question
stringlengths 84
268
| answer
stringlengths 6
879
| reference_sequence
stringlengths 4.1k
4.1k
| mutated_sequence
stringlengths 4.1k
4.1k
| cleaned_pathogenicity
stringclasses 2
values | __index_level_0__
int64 67
343k
|
|---|---|---|---|---|---|
A mutation at chromosome position 153725284 on chromosome X in gene ABCD1 (ATP binding cassette subfamily D member 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Adrenoleukodystrophy'] | CAGACTCATCCTGTTGCTAGAAGGTTTCCCACAGGAAGATGTGAGCTTGTTTCCTGGCAGGGCACAAAAGGTACGGGACTTGTAAGCGCTGGGCAGCCAAGAACATCCAGTTCAGTTACCCTGCGAGGCTGGGGCCGCCACTCTCCACCCTGACCCCCTGCACTTTGCTTCAAAGTCTCTGATGCGCTGGCGGAAGCAGGGCTCCACTCGGCAGGGCCTCTTGGCCAGCAGCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACA | CAGACTCATCCTGTTGCTAGAAGGTTTCCCACAGGAAGATGTGAGCTTGTTTCCTGGCAGGGCACAAAAGGTACGGGACTTGTAAGCGCTGGGCAGCCAAGAACATCCAGTTCAGTTACCCTGCGAGGCTGGGGCCGCCACTCTCCACCCTGACCCCCTGCACTTTGCTTCAAAGTCTCTGATGCGCTGGCGGAAGCAGGGCTCCACTCGGCAGGGCCTCTTGGCCAGCAGCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCAC | pathogenic | 340,421 |
For chromosome X, position 153725297, gene ABCD1 (ATP binding cassette subfamily D member 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Adrenoleukodystrophy'] | TTGCTAGAAGGTTTCCCACAGGAAGATGTGAGCTTGTTTCCTGGCAGGGCACAAAAGGTACGGGACTTGTAAGCGCTGGGCAGCCAAGAACATCCAGTTCAGTTACCCTGCGAGGCTGGGGCCGCCACTCTCCACCCTGACCCCCTGCACTTTGCTTCAAAGTCTCTGATGCGCTGGCGGAAGCAGGGCTCCACTCGGCAGGGCCTCTTGGCCAGCAGCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTA | TTGCTAGAAGGTTTCCCACAGGAAGATGTGAGCTTGTTTCCTGGCAGGGCACAAAAGGTACGGGACTTGTAAGCGCTGGGCAGCCAAGAACATCCAGTTCAGTTACCCTGCGAGGCTGGGGCCGCCACTCTCCACCCTGACCCCCTGCACTTTGCTTCAAAGTCTCTGATGCGCTGGCGGAAGCAGGGCTCCACTCGGCAGGGCCTCTTGGCCAGCAGCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCT | pathogenic | 340,424 |
Mutation found at chromosome X position 153725364, gene ABCD1 (ATP binding cassette subfamily D member 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Adrenoleukodystrophy'] | TGTAAGCGCTGGGCAGCCAAGAACATCCAGTTCAGTTACCCTGCGAGGCTGGGGCCGCCACTCTCCACCCTGACCCCCTGCACTTTGCTTCAAAGTCTCTGATGCGCTGGCGGAAGCAGGGCTCCACTCGGCAGGGCCTCTTGGCCAGCAGCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCT | TGTAAGCGCTGGGCAGCCAAGAACATCCAGTTCAGTTACCCTGCGAGGCTGGGGCCGCCACTCTCCACCCTGACCCCCTGCACTTTGCTTCAAAGTCTCTGATGCGCTGGCGGAAGCAGGGCTCCACTCGGCAGGGCCTCTTGGCCAGCAGCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTN | pathogenic | 340,427 |
Determine if the mutation at chromosome X, position 153725495 in gene ABCD1 (ATP binding cassette subfamily D member 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Adrenoleukodystrophy'] | CAGGGCCTCTTGGCCAGCAGCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACT | CAGGGCCTCTTGGCCAGCAGCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTNNNNNNNNN | pathogenic | 340,434 |
Located at chromosome X position 153725514, the variant affecting gene ABCD1 (ATP binding cassette subfamily D member 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Adrenoleukodystrophy'] | GCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGC | GCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAG | pathogenic | 340,435 |
Evaluate this variant at chromosome X, position 153725514, gene ABCD1 (ATP binding cassette subfamily D member 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Adrenoleukodystrophy'] | GCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGC | GCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCN | pathogenic | 340,436 |
A genetic variant at chromosome X, position 153725579, affecting gene ABCD1 (ATP binding cassette subfamily D member 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Adrenoleukodystrophy'] | AACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTC | AACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCNNNN | pathogenic | 340,444 |
Does the chromosome X mutation at position 153725760 within gene ABCD1 (ATP binding cassette subfamily D member 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Adrenoleukodystrophy'] | GCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGG | GCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 340,465 |
A genetic variant at chromosome X, position 153725986, affecting gene ABCD1 (ATP binding cassette subfamily D member 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Adrenoleukodystrophy'] | AGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCA 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AGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACACTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCANN | pathogenic | 340,478 |
Considering the variant on chromosome X, location 153726135, involving gene ABCD1 (ATP binding cassette subfamily D member 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Adrenoleukodystrophy'] | TCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGCTAGGCAGCTGTCATCAGACGGCTGTGGGGAGGCAAGGCTGGGGTGCGTGCCCCTGGACTGAGCCCAGAAATTC 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TCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGCTAGGCAGCTGTCATCAGACGGCTGTGGGGAGGCAAGGCTGGGGTGCGTGCCCCTGGACTGAGCCCAGAAATTCNNN | pathogenic | 340,491 |
Clinical significance of chromosome X, position 153729221, gene ABCD1 (ATP binding cassette subfamily D member 1): benign or pathogenic? Name the disease(s) if pathogenic. | benign | CCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGCTAGGCAGCTGTCATCAGACGGCTGTGGGGAGGCAAGGCTGGGGTGCGTGCCCCTGGACTGAGCCCAGAAATTCACAACCCCTTGGCTACCTTGCTGGGAGCACTTCCCAACACCTCCCATCTCCCCCGCCTGTCTGACTGCTGCTGCCACCTCTTCCCTGCGGCTGTCCCTTTCCCCACCTGCTGGTGTCCTGACATAGTGGTGGCCAGTGCAGGAAGGGGGACAGAAGGACAGGGGAGGCCTACCCACTGCTGAGGGAGCAAGGTCCAGGCTCAGCAGTGGGGACATCCACTGGGGCGAGTCCTGTAGGGCCCAGCTCAGGAGCGCATCCTCCTGGTTTCAGTGGGAAAATGCCATGCAAATTTCTCACCAAAAGGAAGTGTGGGAAAGTTGAGGGGAAAGAGGGCGTAAATAGGCCCAGACTGTTGAACCGAGTTTTTCAGAACCAAGAGACAGGGTTTCACTGTGCTGCCCAGGCTGGGGTGCAGTGGCGCCATCACTGCAGCTTCAAACTCCAGGGCTCCCGCGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTGCCACCACACCTGGCTAATTTTTTTTTTTAATTATTTTTGGTAGAGACAGCATCTCGCCGTGTTGGCCAGGCTGGTCTCCAACTCCTGGGCTCAGGCAATCCTCCCACCTCAGCCTCTCAAAGTGCTGGGATTGCAGGTGTGAGCTACTGCACTCAGCCCAAGAGCACTGCCTTTTGCTGTCCTGCGCTGCTCTTTGCTTAGTTTAGGGGGGGAAATTAGAGCTGATGGATGATCTCTCCGAGCCAGGAGGAGGGGGCTGGCAGGGAGCCCAAAGAAATGGGCTCAGCAGAGGACAGAAACAAGGTGACTAGAGAGGGAGTGGAGAGGGGACGGGAGCCGCACTGTGACATCAGCCAGTCCCTTATACCCCCTTACACCTTGAGTTTGAGACCTGGCCCCACCCAATCGTAACCTCTGGCTCTCGGCCTTCTGATGGCCACCATGGCACAGCGTGTGTGAGTGGCACTGGGAGACCCTGACCATCGCCCCCACGGGAGCTGCCCCTGTGCATGGCCAGGAAGCCTCTCTGTGTCTGTCACCCCCCGCAGGTGGAGCTGGCCCTGCTACAGCGCTCCTACCAGGACCTGGCCTCGCAGATCAACCTCATCCTTCTGGAACGCCTGTGGTATGTTATGCTGGAGCAGTTCCTCATGAAGTATGTGTGGAGCGCCTCGGGCCTGCTCATGGTGGCTGTCCCCATCATCACTGCCACTGGCTACTCAGAGTCAGGTGAGACCCAGGGCTCCAAGAGGATCCAGGCCAGGGGCCTGTCCCCCATACCGCTGGGTGCTGAGCTCACGAGGGCCCAACTCAGCCAGCCCGCCGCCCACTTCTGCTGCCGGGGCCACCGAGGCCCTGCTGCCAGCCTTGATGCTTTCAGAGGTTGAGCTCGCCTTGCCCCTCCTTGTTGCCTTTTGCCCTGCGCGCACCTCACGCCCTTTGTTACCACTCAGACAAGCCCAGGACTGCAAGTCAGGAACACTACATGTCACTTCTCCAGGCACAGATACCCTCACCCACCTGTCCCTGTCCTCAACCCAACTGCGACTTAGAGGTGGGAGAATGTGCGGAGTACCTGGAGTGAGCCCCTTCATCACTCCAGCCTTGGTTTCCTCGCCCTGAAACAGCTCTTGCACCCTAAGGTGTTTTAGAGGAGTGGGAAGCCTGTTCTACCTGTTATTTTAGTGATAAGATTAAATGTTTAGGTTTCTGCATTCCTGTTGTTTTTGTTTGTTTGTTTTATTTTCTTTTTGGCTTTTGAAACAGGAGTCTGACTGTCGCCCAGGCTGGAGTGCAGTGGCGCGACCTTGGCTCACTGCAGCCTCAACTTCCCAGGCTCAAGTGGTCCTCCCACTTCAGTCTCCCCAGTCGCTGGGACTACAGGCACAAGCCGCCGTACCTGGCTAATTTTAATATTTTTGGTAGAGACAGGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGGTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTGCCGCGCCCGGCCTGCATTCCTGTTTTGTTCCTCTGCCGGATTGCAACTTCTGCATTTGATTTTTAGTCCATTAGTGGTCACCCTTTAAAAGGTCAACACGCAGCCGGGCGCGGGGGCTCCCGCCTGGCATCCCAGCACTTTGGGAGGGTGAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCATCCTGGCTAACAGGGTGAAACCCCATCTCTACTAAAAATACAAAAATTTAGCCGGGCGCGGTGGCGGGCGCCTATAGTCCCAGCTACTCGGGACGCTGAGGCAGAAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCCAGATAGCGCCACTGCACTCCAGCCTGGGCGAAAGAACGAGACTTCGTCTCAAATAAAAATAAAAATAAAAAATAAAAGATCAACACGCATACTTGTTAGGTTAATCAATAGCTCCGCCTTCTCCTGGACCTTAGAACGCAGAAGCAGCCCCGTGGGGCATGGCATCATAGCCCAGCCAAGAGTTGGATTTGTACCTAGTTTTTCCTCTTTGCTATCGCCTTATCCACACGTGTTGAAACTCACTCGCATGTTTGCTGAGTTCTGTGCTCACCATTTCGTTCCTACATCTCAATTTCTCTTCTATGTTCTGTTATCTTCCTCCAGATAGACATGTTTTTAGTTTTTTGTTTGTTTGTTTTTTAACTCACAACTATGCTCAGGACAAACAGTCATCAGTGCTTCTAGTTGTGGTTGGTTTTTAAAAAAGGTTCTTTCAGCAAGGGTTTTGTCATGGGAAATTCTTGATTATTTTATTGTAATTCTTTGTGTTGTTTAGTTTTTTGTTTGTTTGTTTGTTTTTTGTAGAGGCAGGTTCTCGCTGTGTTGCCCAGGCTAGTGTGGAACTCCTGGGCTCAAGCGGTCCTCCCGCATTAGCCTCTCAAAGTGCTGGGATTACAGACGTGAGCCACCACACCCAGGCTGTTGTCATTCTTGATTATTTTTGTTGAAAATGTTTCTATTTCACCCTTATTCCCAAGCTAAAGTTGAGTTGCGCAATGGAGTCTAG | CCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGCTAGGCAGCTGTCATCAGACGGCTGTGGGGAGGCAAGGCTGGGGTGCGTGCCCCTGGACTGAGCCCAGAAATTCACAACCCCTTGGCTACCTTGCTGGGAGCACTTCCCAACACCTCCCATCTCCCCCGCCTGTCTGACTGCTGCTGCCACCTCTTCCCTGCGGCTGTCCCTTTCCCCACCTGCTGGTGTCCTGACATAGTGGTGGCCAGTGCAGGAAGGGGGACAGAAGGACAGGGGAGGCCTACCCACTGCTGAGGGAGCAAGGTCCAGGCTCAGCAGTGGGGACATCCACTGGGGCGAGTCCTGTAGGGCCCAGCTCAGGAGCGCATCCTCCTGGTTTCAGTGGGAAAATGCCATGCAAATTTCTCACCAAAAGGAAGTGTGGGAAAGTTGAGGGGAAAGAGGGCGTAAATAGGCCCAGACTGTTGAACCGAGTTTTTCAGAACCAAGAGACAGGGTTTCACTGTGCTGCCCAGGCTGGGGTGCAGTGGCGCCATCACTGCAGCTTCAAACTCCAGGGCTCCCGCGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTGCCACCACACCTGGCTAATTTTTTTTTTTAATTATTTTTGGTAGAGACAGCATCTCGCCGTGTTGGCCAGGCTGGTCTCCAACTCCTGGGCTCAGGCAATCCTCCCACCTCAGCCTCTCAAAGTGCTGGGATTGCAGGTGTGAGCTACTGCACTCAGCCCAAGAGCACTGCCTTTTGCTGTCCTGCGCTGCTCTTTGCTTAGTTTAGGGGGGGAAATTAGAGCTGATGGATGATCTCTCCGAGCCAGGAGGAGGGGGCTGGCAGGGAGCCCAAAGAAATGGGCTCAGCAGAGGACAGAAACAAGGTGACTAGAGAGGGAGTGGAGAGGGGACGGGAGCCGCACTGTGACATCAGCCAGTCCCTTATACCCCCTTACACCTTGAGTTTGAGACCTGGCCCCACCCAATCGTAACCTCTGGCTCTCGGCCTTCTGATGGCCACCATGGCACAGCGTGTGTGAGTGGCACTGGGAGACCCTGACCATCGCCCCCACGGGAGCTGCCCCTGTGCATGGCCAGGAAGCCTCTCTGTGTCTGTCACCCCCGCAGGTGGAGCTGGCCCTGCTACAGCGCTCCTACCAGGACCTGGCCTCGCAGATCAACCTCATCCTTCTGGAACGCCTGTGGTATGTTATGCTGGAGCAGTTCCTCATGAAGTATGTGTGGAGCGCCTCGGGCCTGCTCATGGTGGCTGTCCCCATCATCACTGCCACTGGCTACTCAGAGTCAGGTGAGACCCAGGGCTCCAAGAGGATCCAGGCCAGGGGCCTGTCCCCCATACCGCTGGGTGCTGAGCTCACGAGGGCCCAACTCAGCCAGCCCGCCGCCCACTTCTGCTGCCGGGGCCACCGAGGCCCTGCTGCCAGCCTTGATGCTTTCAGAGGTTGAGCTCGCCTTGCCCCTCCTTGTTGCCTTTTGCCCTGCGCGCACCTCACGCCCTTTGTTACCACTCAGACAAGCCCAGGACTGCAAGTCAGGAACACTACATGTCACTTCTCCAGGCACAGATACCCTCACCCACCTGTCCCTGTCCTCAACCCAACTGCGACTTAGAGGTGGGAGAATGTGCGGAGTACCTGGAGTGAGCCCCTTCATCACTCCAGCCTTGGTTTCCTCGCCCTGAAACAGCTCTTGCACCCTAAGGTGTTTTAGAGGAGTGGGAAGCCTGTTCTACCTGTTATTTTAGTGATAAGATTAAATGTTTAGGTTTCTGCATTCCTGTTGTTTTTGTTTGTTTGTTTTATTTTCTTTTTGGCTTTTGAAACAGGAGTCTGACTGTCGCCCAGGCTGGAGTGCAGTGGCGCGACCTTGGCTCACTGCAGCCTCAACTTCCCAGGCTCAAGTGGTCCTCCCACTTCAGTCTCCCCAGTCGCTGGGACTACAGGCACAAGCCGCCGTACCTGGCTAATTTTAATATTTTTGGTAGAGACAGGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGGTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTGCCGCGCCCGGCCTGCATTCCTGTTTTGTTCCTCTGCCGGATTGCAACTTCTGCATTTGATTTTTAGTCCATTAGTGGTCACCCTTTAAAAGGTCAACACGCAGCCGGGCGCGGGGGCTCCCGCCTGGCATCCCAGCACTTTGGGAGGGTGAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCATCCTGGCTAACAGGGTGAAACCCCATCTCTACTAAAAATACAAAAATTTAGCCGGGCGCGGTGGCGGGCGCCTATAGTCCCAGCTACTCGGGACGCTGAGGCAGAAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCCAGATAGCGCCACTGCACTCCAGCCTGGGCGAAAGAACGAGACTTCGTCTCAAATAAAAATAAAAATAAAAAATAAAAGATCAACACGCATACTTGTTAGGTTAATCAATAGCTCCGCCTTCTCCTGGACCTTAGAACGCAGAAGCAGCCCCGTGGGGCATGGCATCATAGCCCAGCCAAGAGTTGGATTTGTACCTAGTTTTTCCTCTTTGCTATCGCCTTATCCACACGTGTTGAAACTCACTCGCATGTTTGCTGAGTTCTGTGCTCACCATTTCGTTCCTACATCTCAATTTCTCTTCTATGTTCTGTTATCTTCCTCCAGATAGACATGTTTTTAGTTTTTTGTTTGTTTGTTTTTTAACTCACAACTATGCTCAGGACAAACAGTCATCAGTGCTTCTAGTTGTGGTTGGTTTTTAAAAAAGGTTCTTTCAGCAAGGGTTTTGTCATGGGAAATTCTTGATTATTTTATTGTAATTCTTTGTGTTGTTTAGTTTTTTGTTTGTTTGTTTGTTTTTTGTAGAGGCAGGTTCTCGCTGTGTTGCCCAGGCTAGTGTGGAACTCCTGGGCTCAAGCGGTCCTCCCGCATTAGCCTCTCAAAGTGCTGGGATTACAGACGTGAGCCACCACACCCAGGCTGTTGTCATTCTTGATTATTTTTGTTGAAAATGTTTCTATTTCACCCTTATTCCCAAGCTAAAGTTGAGTTGCGCAATGGAGTCTAGN | benign | 340,498 |
Determine if the mutation at chromosome X, position 153729404 in gene ABCD1 (ATP binding cassette subfamily D member 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Adrenoleukodystrophy'] | TTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGCTAGGCAGCTGTCATCAGACGGCTGTGGGGAGGCAAGGCTGGGGTGCGTGCCCCTGGACTGAGCCCAGAAATTCACAACCCCTTGGCTACCTTGCTGGGAGCACTTCCCAACACCTCCCATCTCCCCCGCCTGTCTGACTGCTGCTGCCACCTCTTCCCTGCGGCTGTCCCTTTCCCCACCTGCTGGTGTCCTGACATAGTGGTGGCCAGTGCAGGAAGGGGGACAGAAGGACAGGGGAGGCCTACCCACTGCTGAGGGAGCAAGGTCCAGGCTCAGCAGTGGGGACATCCACTGGGGCGAGTCCTGTAGGGCCCAGCTCAGGAGCGCATCCTCCTGGTTTCAGTGGGAAAATGCCATGCAAATTTCTCACCAAAAGGAAGTGTGGGAAAGTTGAGGGGAAAGAGGGCGTAAATAGGCCCAGACTGTTGAACCGAGTTTTTCAGAACCAAGAGACAGGGTTTCACTGTGCTGCCCAGGCTGGGGTGCAGTGGCGCCATCACTGCAGCTTCAAACTCCAGGGCTCCCGCGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTGCCACCACACCTGGCTAATTTTTTTTTTTAATTATTTTTGGTAGAGACAGCATCTCGCCGTGTTGGCCAGGCTGGTCTCCAACTCCTGGGCTCAGGCAATCCTCCCACCTCAGCCTCTCAAAGTGCTGGGATTGCAGGTGTGAGCTACTGCACTCAGCCCAAGAGCACTGCCTTTTGCTGTCCTGCGCTGCTCTTTGCTTAGTTTAGGGGGGGAAATTAGAGCTGATGGATGATCTCTCCGAGCCAGGAGGAGGGGGCTGGCAGGGAGCCCAAAGAAATGGGCTCAGCAGAGGACAGAAACAAGGTGACTAGAGAGGGAGTGGAGAGGGGACGGGAGCCGCACTGTGACATCAGCCAGTCCCTTATACCCCCTTACACCTTGAGTTTGAGACCTGGCCCCACCCAATCGTAACCTCTGGCTCTCGGCCTTCTGATGGCCACCATGGCACAGCGTGTGTGAGTGGCACTGGGAGACCCTGACCATCGCCCCCACGGGAGCTGCCCCTGTGCATGGCCAGGAAGCCTCTCTGTGTCTGTCACCCCCCGCAGGTGGAGCTGGCCCTGCTACAGCGCTCCTACCAGGACCTGGCCTCGCAGATCAACCTCATCCTTCTGGAACGCCTGTGGTATGTTATGCTGGAGCAGTTCCTCATGAAGTATGTGTGGAGCGCCTCGGGCCTGCTCATGGTGGCTGTCCCCATCATCACTGCCACTGGCTACTCAGAGTCAGGTGAGACCCAGGGCTCCAAGAGGATCCAGGCCAGGGGCCTGTCCCCCATACCGCTGGGTGCTGAGCTCACGAGGGCCCAACTCAGCCAGCCCGCCGCCCACTTCTGCTGCCGGGGCCACCGAGGCCCTGCTGCCAGCCTTGATGCTTTCAGAGGTTGAGCTCGCCTTGCCCCTCCTTGTTGCCTTTTGCCCTGCGCGCACCTCACGCCCTTTGTTACCACTCAGACAAGCCCAGGACTGCAAGTCAGGAACACTACATGTCACTTCTCCAGGCACAGATACCCTCACCCACCTGTCCCTGTCCTCAACCCAACTGCGACTTAGAGGTGGGAGAATGTGCGGAGTACCTGGAGTGAGCCCCTTCATCACTCCAGCCTTGGTTTCCTCGCCCTGAAACAGCTCTTGCACCCTAAGGTGTTTTAGAGGAGTGGGAAGCCTGTTCTACCTGTTATTTTAGTGATAAGATTAAATGTTTAGGTTTCTGCATTCCTGTTGTTTTTGTTTGTTTGTTTTATTTTCTTTTTGGCTTTTGAAACAGGAGTCTGACTGTCGCCCAGGCTGGAGTGCAGTGGCGCGACCTTGGCTCACTGCAGCCTCAACTTCCCAGGCTCAAGTGGTCCTCCCACTTCAGTCTCCCCAGTCGCTGGGACTACAGGCACAAGCCGCCGTACCTGGCTAATTTTAATATTTTTGGTAGAGACAGGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGGTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTGCCGCGCCCGGCCTGCATTCCTGTTTTGTTCCTCTGCCGGATTGCAACTTCTGCATTTGATTTTTAGTCCATTAGTGGTCACCCTTTAAAAGGTCAACACGCAGCCGGGCGCGGGGGCTCCCGCCTGGCATCCCAGCACTTTGGGAGGGTGAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCATCCTGGCTAACAGGGTGAAACCCCATCTCTACTAAAAATACAAAAATTTAGCCGGGCGCGGTGGCGGGCGCCTATAGTCCCAGCTACTCGGGACGCTGAGGCAGAAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCCAGATAGCGCCACTGCACTCCAGCCTGGGCGAAAGAACGAGACTTCGTCTCAAATAAAAATAAAAATAAAAAATAAAAGATCAACACGCATACTTGTTAGGTTAATCAATAGCTCCGCCTTCTCCTGGACCTTAGAACGCAGAAGCAGCCCCGTGGGGCATGGCATCATAGCCCAGCCAAGAGTTGGATTTGTACCTAGTTTTTCCTCTTTGCTATCGCCTTATCCACACGTGTTGAAACTCACTCGCATGTTTGCTGAGTTCTGTGCTCACCATTTCGTTCCTACATCTCAATTTCTCTTCTATGTTCTGTTATCTTCCTCCAGATAGACATGTTTTTAGTTTTTTGTTTGTTTGTTTTTTAACTCACAACTATGCTCAGGACAAACAGTCATCAGTGCTTCTAGTTGTGGTTGGTTTTTAAAAAAGGTTCTTTCAGCAAGGGTTTTGTCATGGGAAATTCTTGATTATTTTATTGTAATTCTTTGTGTTGTTTAGTTTTTTGTTTGTTTGTTTGTTTTTTGTAGAGGCAGGTTCTCGCTGTGTTGCCCAGGCTAGTGTGGAACTCCTGGGCTCAAGCGGTCCTCCCGCATTAGCCTCTCAAAGTGCTGGGATTACAGACGTGAGCCACCACACCCAGGCTGTTGTCATTCTTGATTATTTTTGTTGAAAATGTTTCTATTTCACCCTTATTCCCAAGCTAAAGTTGAGTTGCGCAATGGAGTCTAGGTGGACTGTTCTTTTCTCTCAGCCCTTTCACAATGTCTCATTGTCTCCCTGCTTCTTCTGTAGCTGCTGACAAATCTGTAGCTGCTAACAAATTGTCCTCCCTGAGTACCCTGTGTTTCTTTTTTTCTGGGTACTTTGATCACTTTCTTTCTTTTTGGCATTCTGCAGTTTCACTATGACATG | TTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGCTAGGCAGCTGTCATCAGACGGCTGTGGGGAGGCAAGGCTGGGGTGCGTGCCCCTGGACTGAGCCCAGAAATTCACAACCCCTTGGCTACCTTGCTGGGAGCACTTCCCAACACCTCCCATCTCCCCCGCCTGTCTGACTGCTGCTGCCACCTCTTCCCTGCGGCTGTCCCTTTCCCCACCTGCTGGTGTCCTGACATAGTGGTGGCCAGTGCAGGAAGGGGGACAGAAGGACAGGGGAGGCCTACCCACTGCTGAGGGAGCAAGGTCCAGGCTCAGCAGTGGGGACATCCACTGGGGCGAGTCCTGTAGGGCCCAGCTCAGGAGCGCATCCTCCTGGTTTCAGTGGGAAAATGCCATGCAAATTTCTCACCAAAAGGAAGTGTGGGAAAGTTGAGGGGAAAGAGGGCGTAAATAGGCCCAGACTGTTGAACCGAGTTTTTCAGAACCAAGAGACAGGGTTTCACTGTGCTGCCCAGGCTGGGGTGCAGTGGCGCCATCACTGCAGCTTCAAACTCCAGGGCTCCCGCGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTGCCACCACACCTGGCTAATTTTTTTTTTTAATTATTTTTGGTAGAGACAGCATCTCGCCGTGTTGGCCAGGCTGGTCTCCAACTCCTGGGCTCAGGCAATCCTCCCACCTCAGCCTCTCAAAGTGCTGGGATTGCAGGTGTGAGCTACTGCACTCAGCCCAAGAGCACTGCCTTTTGCTGTCCTGCGCTGCTCTTTGCTTAGTTTAGGGGGGGAAATTAGAGCTGATGGATGATCTCTCCGAGCCAGGAGGAGGGGGCTGGCAGGGAGCCCAAAGAAATGGGCTCAGCAGAGGACAGAAACAAGGTGACTAGAGAGGGAGTGGAGAGGGGACGGGAGCCGCACTGTGACATCAGCCAGTCCCTTATACCCCCTTACACCTTGAGTTTGAGACCTGGCCCCACCCAATCGTAACCTCTGGCTCTCGGCCTTCTGATGGCCACCATGGCACAGCGTGTGTGAGTGGCACTGGGAGACCCTGACCATCGCCCCCACGGGAGCTGCCCCTGTGCATGGCCAGGAAGCCTCTCTGTGTCTGTCACCCCCCGCAGGTGGAGCTGGCCCTGCTACAGCGCTCCTACCAGGACCTGGCCTCGCAGATCAACCTCATCCTTCTGGAACGCCTGTGGTATGTTATGCTGGAGCAGTTCCTCATGAAGTATGTGTGGAGCGCCTCGGGCCTGCTCATGGTGGCTGTCCCCATCATCACTGCCACTGGCTACTCAGTCAGGTGAGACCCAGGGCTCCAAGAGGATCCAGGCCAGGGGCCTGTCCCCCATACCGCTGGGTGCTGAGCTCACGAGGGCCCAACTCAGCCAGCCCGCCGCCCACTTCTGCTGCCGGGGCCACCGAGGCCCTGCTGCCAGCCTTGATGCTTTCAGAGGTTGAGCTCGCCTTGCCCCTCCTTGTTGCCTTTTGCCCTGCGCGCACCTCACGCCCTTTGTTACCACTCAGACAAGCCCAGGACTGCAAGTCAGGAACACTACATGTCACTTCTCCAGGCACAGATACCCTCACCCACCTGTCCCTGTCCTCAACCCAACTGCGACTTAGAGGTGGGAGAATGTGCGGAGTACCTGGAGTGAGCCCCTTCATCACTCCAGCCTTGGTTTCCTCGCCCTGAAACAGCTCTTGCACCCTAAGGTGTTTTAGAGGAGTGGGAAGCCTGTTCTACCTGTTATTTTAGTGATAAGATTAAATGTTTAGGTTTCTGCATTCCTGTTGTTTTTGTTTGTTTGTTTTATTTTCTTTTTGGCTTTTGAAACAGGAGTCTGACTGTCGCCCAGGCTGGAGTGCAGTGGCGCGACCTTGGCTCACTGCAGCCTCAACTTCCCAGGCTCAAGTGGTCCTCCCACTTCAGTCTCCCCAGTCGCTGGGACTACAGGCACAAGCCGCCGTACCTGGCTAATTTTAATATTTTTGGTAGAGACAGGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGGTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTGCCGCGCCCGGCCTGCATTCCTGTTTTGTTCCTCTGCCGGATTGCAACTTCTGCATTTGATTTTTAGTCCATTAGTGGTCACCCTTTAAAAGGTCAACACGCAGCCGGGCGCGGGGGCTCCCGCCTGGCATCCCAGCACTTTGGGAGGGTGAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCATCCTGGCTAACAGGGTGAAACCCCATCTCTACTAAAAATACAAAAATTTAGCCGGGCGCGGTGGCGGGCGCCTATAGTCCCAGCTACTCGGGACGCTGAGGCAGAAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCCAGATAGCGCCACTGCACTCCAGCCTGGGCGAAAGAACGAGACTTCGTCTCAAATAAAAATAAAAATAAAAAATAAAAGATCAACACGCATACTTGTTAGGTTAATCAATAGCTCCGCCTTCTCCTGGACCTTAGAACGCAGAAGCAGCCCCGTGGGGCATGGCATCATAGCCCAGCCAAGAGTTGGATTTGTACCTAGTTTTTCCTCTTTGCTATCGCCTTATCCACACGTGTTGAAACTCACTCGCATGTTTGCTGAGTTCTGTGCTCACCATTTCGTTCCTACATCTCAATTTCTCTTCTATGTTCTGTTATCTTCCTCCAGATAGACATGTTTTTAGTTTTTTGTTTGTTTGTTTTTTAACTCACAACTATGCTCAGGACAAACAGTCATCAGTGCTTCTAGTTGTGGTTGGTTTTTAAAAAAGGTTCTTTCAGCAAGGGTTTTGTCATGGGAAATTCTTGATTATTTTATTGTAATTCTTTGTGTTGTTTAGTTTTTTGTTTGTTTGTTTGTTTTTTGTAGAGGCAGGTTCTCGCTGTGTTGCCCAGGCTAGTGTGGAACTCCTGGGCTCAAGCGGTCCTCCCGCATTAGCCTCTCAAAGTGCTGGGATTACAGACGTGAGCCACCACACCCAGGCTGTTGTCATTCTTGATTATTTTTGTTGAAAATGTTTCTATTTCACCCTTATTCCCAAGCTAAAGTTGAGTTGCGCAATGGAGTCTAGGTGGACTGTTCTTTTCTCTCAGCCCTTTCACAATGTCTCATTGTCTCCCTGCTTCTTCTGTAGCTGCTGACAAATCTGTAGCTGCTAACAAATTGTCCTCCCTGAGTACCCTGTGTTTCTTTTTTTCTGGGTACTTTGATCACTTTCTTTCTTTTTGGCATTCTGCAGTTTCACTATGACATGNN | pathogenic | 340,508 |
Determine whether the variant at chromosome X, position 153736139, in gene ABCD1 (ATP binding cassette subfamily D member 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Adrenoleukodystrophy'] | TGTGGGGAATCTAAGGATCAAGAAACTGAGAGTCAAGGCCATTGATGAGGGTCAGGGGTGCTGCCACGGGGCCTAGAGTGTGACAGAAAAGCAAATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCA | TGTGGGGAATCTAAGGATCAAGAAACTGAGAGTCAAGGCCATTGATGAGGGTCAGGGGTGCTGCCACGGGGCCTAGAGTGTGACAGAAAAGCAAATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCAN | pathogenic | 340,511 |
Determine whether the variant at chromosome X, position 153736198, in gene ABCD1 (ATP binding cassette subfamily D member 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Adrenoleukodystrophy', 'Inborn_genetic_diseases'] | GCTGCCACGGGGCCTAGAGTGTGACAGAAAAGCAAATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCA | GCTGCCACGGGGCCTAGAGTGTGACAGAAAAGCAAATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCANNNNNNNN | pathogenic | 340,515 |
Is the genetic change at chromosome X, position 153736201, within gene ABCD1 (ATP binding cassette subfamily D member 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Adrenoleukodystrophy'] | GCCACGGGGCCTAGAGTGTGACAGAAAAGCAAATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGG | GCCACGGGGCCTAGAGTGTGACAGAAAAGCAAATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGNNNN | pathogenic | 340,516 |
Gene ABCD1 (ATP binding cassette subfamily D member 1) variant at chromosome position 153736478 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Adrenoleukodystrophy'] | TCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCT | TCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTN | pathogenic | 340,530 |
The chromosome X, position 153736484 genetic variant in gene ABCD1 (ATP binding cassette subfamily D member 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Adrenoleukodystrophy'] | GGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCC | GGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTC | pathogenic | 340,531 |
Evaluate if the mutation on chromosome X at position 153737177 in ABCD1 (ATP binding cassette subfamily D member 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['ABCD1-related_disorder', 'Adrenoleukodystrophy'] | ATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTG | ATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGNN | pathogenic | 340,537 |
Classify the chromosome X variant at position 153737192 affecting gene ABCD1 (ATP binding cassette subfamily D member 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Adrenoleukodystrophy'] | CACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTG | CACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGN | pathogenic | 340,538 |
Considering the genetic mutation at chromosome X, position 153737199, impacting ABCD1 (ATP binding cassette subfamily D member 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Adrenoleukodystrophy', 'likely other unspecified diseases'] | TCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCT | TCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTN | pathogenic | 340,539 |
Clinical classification of chromosome X, position 153737209, gene ABCD1 (ATP binding cassette subfamily D member 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Adrenoleukodystrophy'] | TTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTGA | TTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCAACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTG | pathogenic | 340,541 |
A genetic variant at chromosome X, position 153740082, affecting gene ABCD1 (ATP binding cassette subfamily D member 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTGAAAAAAAAGGCTAAAGTGAGAGGGTCTCTTGAGCCCAGGAGGTTGAGCCTGCAGTGAGCCATGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGGCCCCGTCTCAAAAAGAAAAGAAAGAAACTGCCTTTTGTCCCCAGTGACTCAGGAGGCCAAGGTGAGAGAGTCGCTTGAGGCCAAGAGTTTGAGACCAGCCTGAGTAACATAGCAAGACCCTGTCTCTAAAACAACATTTAAAAATTAGCCAGGCATGGTGGCGTGCATCTGTAGGCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTGGAGACTGCGGTGAGCTGTGATCATACCGCTGCACTCCAGCCTGGGCAACAGAGTGAGGTCTCGTCTCTTGAAAACAAAGTGCCTTTCAGGGCAGTTCCTTAAAGGGGGCTGACAGTTGACCCTGCACTTGGATTCCTGGTGAAGTGGGAGTCGGATGGGACTGAGGACGGCGCTGGCTGTGTTGGAACACACCTACTCATTCAGCTGTGGCAGAATAGGCCCTTCCTCTTGTGCTGGCACCATGTTCTCCAGGCGTGTCAGGGCCTGAGGACTGGGCCGGGGCTTGTCCATTCCTGTGTCCTGGGCCAGGCATTTAGCGAGAGCCAAATTTAGCTAGGGCTGTGGACGCTGGACCCCATCCCCCAGGCCCTGCTGTCCCTTATCAAGAGATCAAGAATGGCCTGCGTGCTGGCCTCGGGCATTGGGAGCCTCTCAAGGCTGGTCAGGAGGCCATAGGGTACGGGAAGGGGCCTGCGCTCTCTGGCGTCAGCGGCTGTTGCCCCTGCAGGTGGAGGAAGGCATGCATCTGCTCATCACAGGCCCCAATGGCTGCGGCAAGAGCTCCCTGTTCCGGATCCTGGGTGGGCTCTGGCCCACGTACGGTGGTGTGCTCTACAAGCCCCCACCCCAGCGCATGTTCTACATCCCGCAGAGGTAAGGAAGCCCGTGCGCCTCTCCTCCACCTCTTCCTGCCTGTGCGCTCACACATGGCTTCCTGCAGAGGCCCAGGAAGTGGTGAAGAGTCAGCACCTCAGGAGAGGACACTGAGGCACTGTCCCCAGAGCCAGAGACGGGCTGTGGTTCCTGCTCCCTCCAAACCCGCCCGATCCACTGCCCTGTTTTGGATCTGTGTGGGGTGTGTGCACGGGCGGCGATGTGAGCGTGTGGATGCGTGTGAGCGTGGCATGTGGACACTGCCTGGGAGGCGCAGAGTATCTTGGGGGAGGCAGAGCCGGCCCTTCCCTCCGTGGACACCCAGCTTTCCCACAGGCCCTACATGTCTGTGGGCTCCCTGCGTGACCAGGTGATCTACCCGGACTCAGTGGAGGACATGCAAAGGAAGGGCTACTCGGAGCAGGACCTGGAAGCCATCCTGGACGTCGTGCACCTGCACCACATCCTGCAGCGGGAGGGAGGTAGGAGGCCTGGGGCTGGCAGCCACCCTTTGTCCCACCCTGGCCTCTCCCTTGGCCTCCAGGGAGTGAAGATTACCTCAACATCCAGAGTCTAAAGTGCCAGGTGCCACGGGGCGGGGCAGAGGCTGCTACCAGGGAGGACCAACACCACACAGATGGCCCCAGGTGCTCTAGGGAAGGGGGCACCTAGCAGGGATGTGCACCTCACTGGGGGACCCAGGATACCCTCTCCCAGAGAAAAGAGGTCTGAGCTGAGCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCAC | GGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTGAAAAAAAAGGCTAAAGTGAGAGGGTCTCTTGAGCCCAGGAGGTTGAGCCTGCAGTGAGCCATGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGGCCCCGTCTCAAAAAGAAAAGAAAGAAACTGCCTTTTGTCCCCAGTGACTCAGGAGGCCAAGGTGAGAGAGTCGCTTGAGGCCAAGAGTTTGAGACCAGCCTGAGTAACATAGCAAGACCCTGTCTCTAAAACAACATTTAAAAATTAGCCAGGCATGGTGGCGTGCATCTGTAGGCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTGGAGACTGCGGTGAGCTGTGATCATACCGCTGCACTCCAGCCTGGGCAACAGAGTGAGGTCTCGTCTCTTGAAAACAAAGTGCCTTTCAGGGCAGTTCCTTAAAGGGGGCTGACAGTTGACCCTGCACTTGGATTCCTGGTGAAGTGGGAGTCGGATGGGACTGAGGACGGCGCTGGCTGTGTTGGAACACACCTACTCATTCAGCTGTGGCAGAATAGGCCCTTCCTCTTGTGCTGGCACCATGTTCTCCAGGCGTGTCAGGGCCTGAGGACTGGGCCGGGGCTTGTCCATTCCTGTGTCCTGGGCCAGGCATTTAGCGAGAGCCAAATTTAGCTAGGGCTGTGGACGCTGGACCCCATCCCCCAGGCCCTGCTGTCCCTTATCAAGAGATCAAGAATGGCCTGCGTGCTGGCCTCGGGCATTGGGAGCCTCTCAAGGCTGGTCAGGAGGCCATAGGGTACGGGAAGGGGCCTGCGCTCTCTGGCGTCAGCGGCTGTTGCCCTGCAGGTGGAGGAAGGCATGCATCTGCTCATCACAGGCCCCAATGGCTGCGGCAAGAGCTCCCTGTTCCGGATCCTGGGTGGGCTCTGGCCCACGTACGGTGGTGTGCTCTACAAGCCCCCACCCCAGCGCATGTTCTACATCCCGCAGAGGTAAGGAAGCCCGTGCGCCTCTCCTCCACCTCTTCCTGCCTGTGCGCTCACACATGGCTTCCTGCAGAGGCCCAGGAAGTGGTGAAGAGTCAGCACCTCAGGAGAGGACACTGAGGCACTGTCCCCAGAGCCAGAGACGGGCTGTGGTTCCTGCTCCCTCCAAACCCGCCCGATCCACTGCCCTGTTTTGGATCTGTGTGGGGTGTGTGCACGGGCGGCGATGTGAGCGTGTGGATGCGTGTGAGCGTGGCATGTGGACACTGCCTGGGAGGCGCAGAGTATCTTGGGGGAGGCAGAGCCGGCCCTTCCCTCCGTGGACACCCAGCTTTCCCACAGGCCCTACATGTCTGTGGGCTCCCTGCGTGACCAGGTGATCTACCCGGACTCAGTGGAGGACATGCAAAGGAAGGGCTACTCGGAGCAGGACCTGGAAGCCATCCTGGACGTCGTGCACCTGCACCACATCCTGCAGCGGGAGGGAGGTAGGAGGCCTGGGGCTGGCAGCCACCCTTTGTCCCACCCTGGCCTCTCCCTTGGCCTCCAGGGAGTGAAGATTACCTCAACATCCAGAGTCTAAAGTGCCAGGTGCCACGGGGCGGGGCAGAGGCTGCTACCAGGGAGGACCAACACCACACAGATGGCCCCAGGTGCTCTAGGGAAGGGGGCACCTAGCAGGGATGTGCACCTCACTGGGGGACCCAGGATACCCTCTCCCAGAGAAAAGAGGTCTGAGCTGAGCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACN | benign | 340,548 |
Gene mutation in ABCD1 (ATP binding cassette subfamily D member 1) at chromosome X, position 153740228—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Adrenoleukodystrophy'] | AAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTGAAAAAAAAGGCTAAAGTGAGAGGGTCTCTTGAGCCCAGGAGGTTGAGCCTGCAGTGAGCCATGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGGCCCCGTCTCAAAAAGAAAAGAAAGAAACTGCCTTTTGTCCCCAGTGACTCAGGAGGCCAAGGTGAGAGAGTCGCTTGAGGCCAAGAGTTTGAGACCAGCCTGAGTAACATAGCAAGACCCTGTCTCTAAAACAACATTTAAAAATTAGCCAGGCATGGTGGCGTGCATCTGTAGGCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTGGAGACTGCGGTGAGCTGTGATCATACCGCTGCACTCCAGCCTGGGCAACAGAGTGAGGTCTCGTCTCTTGAAAACAAAGTGCCTTTCAGGGCAGTTCCTTAAAGGGGGCTGACAGTTGACCCTGCACTTGGATTCCTGGTGAAGTGGGAGTCGGATGGGACTGAGGACGGCGCTGGCTGTGTTGGAACACACCTACTCATTCAGCTGTGGCAGAATAGGCCCTTCCTCTTGTGCTGGCACCATGTTCTCCAGGCGTGTCAGGGCCTGAGGACTGGGCCGGGGCTTGTCCATTCCTGTGTCCTGGGCCAGGCATTTAGCGAGAGCCAAATTTAGCTAGGGCTGTGGACGCTGGACCCCATCCCCCAGGCCCTGCTGTCCCTTATCAAGAGATCAAGAATGGCCTGCGTGCTGGCCTCGGGCATTGGGAGCCTCTCAAGGCTGGTCAGGAGGCCATAGGGTACGGGAAGGGGCCTGCGCTCTCTGGCGTCAGCGGCTGTTGCCCCTGCAGGTGGAGGAAGGCATGCATCTGCTCATCACAGGCCCCAATGGCTGCGGCAAGAGCTCCCTGTTCCGGATCCTGGGTGGGCTCTGGCCCACGTACGGTGGTGTGCTCTACAAGCCCCCACCCCAGCGCATGTTCTACATCCCGCAGAGGTAAGGAAGCCCGTGCGCCTCTCCTCCACCTCTTCCTGCCTGTGCGCTCACACATGGCTTCCTGCAGAGGCCCAGGAAGTGGTGAAGAGTCAGCACCTCAGGAGAGGACACTGAGGCACTGTCCCCAGAGCCAGAGACGGGCTGTGGTTCCTGCTCCCTCCAAACCCGCCCGATCCACTGCCCTGTTTTGGATCTGTGTGGGGTGTGTGCACGGGCGGCGATGTGAGCGTGTGGATGCGTGTGAGCGTGGCATGTGGACACTGCCTGGGAGGCGCAGAGTATCTTGGGGGAGGCAGAGCCGGCCCTTCCCTCCGTGGACACCCAGCTTTCCCACAGGCCCTACATGTCTGTGGGCTCCCTGCGTGACCAGGTGATCTACCCGGACTCAGTGGAGGACATGCAAAGGAAGGGCTACTCGGAGCAGGACCTGGAAGCCATCCTGGACGTCGTGCACCTGCACCACATCCTGCAGCGGGAGGGAGGTAGGAGGCCTGGGGCTGGCAGCCACCCTTTGTCCCACCCTGGCCTCTCCCTTGGCCTCCAGGGAGTGAAGATTACCTCAACATCCAGAGTCTAAAGTGCCAGGTGCCACGGGGCGGGGCAGAGGCTGCTACCAGGGAGGACCAACACCACACAGATGGCCCCAGGTGCTCTAGGGAAGGGGGCACCTAGCAGGGATGTGCACCTCACTGGGGGACCCAGGATACCCTCTCCCAGAGAAAAGAGGTCTGAGCTGAGCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTG | AAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTGAAAAAAAAGGCTAAAGTGAGAGGGTCTCTTGAGCCCAGGAGGTTGAGCCTGCAGTGAGCCATGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGGCCCCGTCTCAAAAAGAAAAGAAAGAAACTGCCTTTTGTCCCCAGTGACTCAGGAGGCCAAGGTGAGAGAGTCGCTTGAGGCCAAGAGTTTGAGACCAGCCTGAGTAACATAGCAAGACCCTGTCTCTAAAACAACATTTAAAAATTAGCCAGGCATGGTGGCGTGCATCTGTAGGCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTGGAGACTGCGGTGAGCTGTGATCATACCGCTGCACTCCAGCCTGGGCAACAGAGTGAGGTCTCGTCTCTTGAAAACAAAGTGCCTTTCAGGGCAGTTCCTTAAAGGGGGCTGACAGTTGACCCTGCACTTGGATTCCTGGTGAAGTGGGAGTCGGATGGGACTGAGGACGGCGCTGGCTGTGTTGGAACACACCTACTCATTCAGCTGTGGCAGAATAGGCCCTTCCTCTTGTGCTGGCACCATGTTCTCCAGGCGTGTCAGGGCCTGAGGACTGGGCCGGGGCTTGTCCATTCCTGTGTCCTGGGCCAGGCATTTAGCGAGAGCCAAATTTAGCTAGGGCTGTGGACGCTGGACCCCATCCCCCAGGCCCTGCTGTCCCTTATCAAGAGATCAAGAATGGCCTGCGTGCTGGCCTCGGGCATTGGGAGCCTCTCAAGGCTGGTCAGGAGGCCATAGGGTACGGGAAGGGGCCTGCGCTCTCTGGCGTCAGCGGCTGTTGCCCCTGCAGGTGGAGGAAGGCATGCATCTGCTCATCACAGGCCCCAATGGCTGCGGCAAGAGCTCCCTGTTCCGGATCCTGGGTGGGCTCTGGCCCACGTACGGTGGTGTGCTCTACAAGCCCCCACCCCAGCGCATGTTCTACATCCGCAGAGGTAAGGAAGCCCGTGCGCCTCTCCTCCACCTCTTCCTGCCTGTGCGCTCACACATGGCTTCCTGCAGAGGCCCAGGAAGTGGTGAAGAGTCAGCACCTCAGGAGAGGACACTGAGGCACTGTCCCCAGAGCCAGAGACGGGCTGTGGTTCCTGCTCCCTCCAAACCCGCCCGATCCACTGCCCTGTTTTGGATCTGTGTGGGGTGTGTGCACGGGCGGCGATGTGAGCGTGTGGATGCGTGTGAGCGTGGCATGTGGACACTGCCTGGGAGGCGCAGAGTATCTTGGGGGAGGCAGAGCCGGCCCTTCCCTCCGTGGACACCCAGCTTTCCCACAGGCCCTACATGTCTGTGGGCTCCCTGCGTGACCAGGTGATCTACCCGGACTCAGTGGAGGACATGCAAAGGAAGGGCTACTCGGAGCAGGACCTGGAAGCCATCCTGGACGTCGTGCACCTGCACCACATCCTGCAGCGGGAGGGAGGTAGGAGGCCTGGGGCTGGCAGCCACCCTTTGTCCCACCCTGGCCTCTCCCTTGGCCTCCAGGGAGTGAAGATTACCTCAACATCCAGAGTCTAAAGTGCCAGGTGCCACGGGGCGGGGCAGAGGCTGCTACCAGGGAGGACCAACACCACACAGATGGCCCCAGGTGCTCTAGGGAAGGGGGCACCTAGCAGGGATGTGCACCTCACTGGGGGACCCAGGATACCCTCTCCCAGAGAAAAGAGGTCTGAGCTGAGCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGN | pathogenic | 340,559 |
Is the genetic change at chromosome X, position 153743023, within gene ABCD1 (ATP binding cassette subfamily D member 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Adrenoleukodystrophy'] | GCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAG | GCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGNNNN | pathogenic | 340,583 |
Benign or pathogenic: chromosome X, position 153743286, gene ABCD1 (ATP binding cassette subfamily D member 1) variant? Disease(s) if pathogenic? | pathogenic; ['Adrenoleukodystrophy'] | GCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGATGTCTAAGCTGCCACACAGGGTGCTGCTGGCCCTTCTAGGGAGAGGCGGCCACTTGTGCAGGGGCCTGGGGGGAACTGGGAGCACAGCGCAGGGTGTTCGTGCTGCATGCAGGGGAAGGGAGGGCAGGGGAAGGGAGGGCTGCGGCCGGCGGGCCTTGGAGGCCACACTACAGAGACAGGACTTAGCCCAGAGGCCACCGAGGAGCTTTCAGCAACAGGGAAGCAGTGTCGAGTACTGCAGGCCACGTGGCTGCA | GCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGATGTCTAAGCTGCCACACAGGGTGCTGCTGGCCCTTCTAGGGAGAGGCGGCCACTTGTGCAGGGGCCTGGGGGGAACTGGGAGCACAGCGCAGGGTGTTCGTGCTGCATGCAGGGGAAGGGAGGGCAGGGGAAGGGAGGGCTGCGGCCGGCGGGCCTTGGAGGCCACACTACAGAGACAGGACTTAGCCCAGAGGCCACCGAGGAGCTTTCAGCAACAGGGAAGCAGTGTCGAGTACTGCAGGCCACGTGGCTGCAN | pathogenic | 340,596 |
Evaluate if the mutation on chromosome X at position 153743495 in ABCD1 (ATP binding cassette subfamily D member 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Adrenoleukodystrophy'] | CTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGATGTCTAAGCTGCCACACAGGGTGCTGCTGGCCCTTCTAGGGAGAGGCGGCCACTTGTGCAGGGGCCTGGGGGGAACTGGGAGCACAGCGCAGGGTGTTCGTGCTGCATGCAGGGGAAGGGAGGGCAGGGGAAGGGAGGGCTGCGGCCGGCGGGCCTTGGAGGCCACACTACAGAGACAGGACTTAGCCCAGAGGCCACCGAGGAGCTTTCAGCAACAGGGAAGCAGTGTCGAGTACTGCAGGCCACGTGGCTGCATGTGAGGGTGGCTGGTGGGAATAGGGTGCGGCAGCCCATCTGGCCTCAGAGGCACGAGAACTGAGAACAGCTGTGCGGCCATACCTTTATGCATGGATGGCCACAGCCTCCCAAAGGTGGGGCAGCCTGAGTGTTCATCAACAGACAAATGGACAAACAGCCTGTCCATAAGGCACAGTGCCATTCTGCCATAACACGACAGATAGACC | CTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGATGTCTAAGCTGCCACACAGGGTGCTGCTGGCCCTTCTAGGGAGAGGCGGCCACTTGTGCAGGGGCCTGGGGGGAACTGGGAGCACAGCGCAGGGTGTTCGTGCTGCATGCAGGGGAAGGGAGGGCAGGGGAAGGGAGGGCTGCGGCCGGCGGGCCTTGGAGGCCACACTACAGAGACAGGACTTAGCCCAGAGGCCACCGAGGAGCTTTCAGCAACAGGGAAGCAGTGTCGAGTACTGCAGGCCACGTGGCTGCATGTGAGGGTGGCTGGTGGGAATAGGGTGCGGCAGCCCATCTGGCCTCAGAGGCACGAGAACTGAGAACAGCTGTGCGGCCATACCTTTATGCATGGATGGCCACAGCCTCCCAAAGGTGGGGCAGCCTGAGTGTTCATCAACAGACAAATGGACAAACAGCCTGTCCATAAGGCACAGTGCCATTCTGCCATAACACGACAGATAGACCNN | pathogenic | 340,604 |
Considering the genetic mutation at chromosome X, position 153864035, impacting L1CAM (L1 cell adhesion molecule): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GAGGCCACTTGGATGTTGTGTGGTGGGTACCGAAGGCAGCGTGTGTATGGAGCTCCTGAAAGCCGGCCATGGGGTGGGCTGGGCGGCGGGAAGAGGCGGTGCTGCCAGAGTGCGATGCTGGGAGTGGGGGGACTCTGGGCTCTCCAGATGGCCTCCCCTGCCCCCGCGGCCAGTTTGCCCGGCTCCCATCCCGGTTGGAGCAGAGATGGCAAAGAAAAGACAGCAGATGGTGGGGACACCGAGTTCTGTTCCCAGTCCCAGCCAGGCTGGCTGGGGAGTGGCTGGGGGAGGGGGAAGGTGCCAACCCTGGTCCTGAGGAGACCCCACCATGTCTGCCCCCAGTCAGGGAGCAAGAAAGACAGCATTTCGGAGACCCTTTCGGGCCACCCCTACTTCTTCTCCCCCAAACCACAGCCTCTCTGCCCAAATGGGCTGGCAAAACAGCACCCAAAGGCCCCTGGCATGTGGGAGATCTGCCCAAGCTGGGGCAGAGCAGCGTGTGCCCAGGAAGGGGTGCAGCTGGGTTTTGGCAATAAAGTGGGGACCGGGTGGTAGGAAGGGGATCCGAGGCAGCAAGTTCTCCTCTGCCCCAACTCCAGCCTCCCATGGGCCTGCTGGAGAGGGAGGGGCCTGGATCCCAAGGCCAGGGGCACAGCATCTCCTGTCCTGGACTCCACTATTCTAGGGCCACGGCAGGGTTGATGGGGGAAGTGGCCCCTGAGCTGTCATTGCCCCCTGCCGCCTCCTTCTCCTTCTTGCCACTGTACTGGCCAATGAACGAACCATCCTCGTTGAACTGAACATCCACGCTGCCCCCATAATCGGCCAGGCTGTCGTCACTGCCCAGGGGCTTGATGTCCCCGTTGAGCGATGGCTGGCTGCTGCCAAAGGCCTTCTCCTCGTTGTCACTGCAGAGGCACAGGGCAGGTGCGAGTGAGAGCACTGCCGAGCCCCTGCAGGAGCCTGGCTGGGGGTGAGGCAGACGCCCGCCTGCCTTCCATTTGTTTAGAATGCGCTCAGAAAGAGCAGCTCTGGCCACCCTGGCAGGCAGGTCTGGAGCTGTCATCTTTGGGCATTCCCCAGATCCTGGGGACTGTGAGGGAGAAAATGTGCGCTCGGCCAGGGGATTATGGGGCCTGGTTCCTGTCTGGGAAGCTGTCTGGGGCCTCCCTTGGGGAGAGGGGAGCAGTGAAGGTATCTGTGTGGAGAGGAGGGGCTGGGGCGTGTTGGCCTCTCCCTGAAATGAGGAGCTGCCGGGCCTGGGGGCTGGGAAGTGAGAGTCCTGTCAGAGCCCCGGCAGCCAGGGGACAATGGCACACCAGGCGCACATTGTCTATAGGGAGACCTTGCTGTTGGCCCCTCCCCACCGCCCCTGCCTTACCTCTCCAGGGACCTGAAGTCACCCGGCAGCACAGAGAAGAGAGAGAGGGGGTGAGATGTGAAGGCCAGGGTGGAGCTGAGTGCCAGCACCCACTCCTGCCCCGGCTCACCTGTACTCGCCGAAGGTCTCATCTTTCATCGGTCGGGCCTCAGAGTCCACCTGGGTGTCCTCCTTATCCTTCACTGGAGACACAGAGAGGGACAGCTTCTTCTCCCGCCCCAGCCTGACCCGGGGCTCCAGGCCCCTCTACGCCCCGCACCCCCAGCACTCTGTCTCAACAGCGCCCAGAGGCAAGAGGCCTTGAAAGAAACCGCTCACCCCCTGCGGTCCAGCCACCACTTGCCTGTTGCCCCAACCCCGGCCTGGGAGGATGATCCCCCTGCCTGCCCCCACCATGCGCCTGTCATCTTGTGGGGAGCTCGGGGAATCCAGGAGGCCTTGCAGAAGGGTGGAAGGGGCGAGGTGCTCCTCTCTGCCCTCGGCTCCACCCCCGTCACGTGGGGCTCAGAGGCTACCTGAGTATTTGCCGCCCTTGCTGCGCTTGATGAAGCAGAGGATGAGCAGGACGAGGAGCAGGAGGATGATGGCACTCACAAAGCCGATGAACCAGCCCTCAGTGGCGAAGCCAGCAGGAGGGAGCCTCACGCGGCCTGAGGGTGAGACACCAGCCCCCCGTGCTGCCGCCCAAGCCAGAACCCGACCTGAGGCCCTGAAGTATGCTCTTAAAGTTGGGGCCCTCTGGGGGGCTAAGGAGTGACAGGGACAGGGAAAAGGGCATCTGCGGAAAGGGTATGAAAGGGGGCTGATTCGGGGACACCCAGATTCTGGGAGGAGAAGCAGACAGGAGCCGTGGAGGGAGCCTGGGCAGTAGTGGCCATTCAGGGGACAGAAGGACATGAATTGTGCAGCCCCCATGCTTCCCTGGCAGGTGATGGCGGGCCCCCGGCGCCTCACCTGTGCCATTGGTCTTCACAGCCATTTGGTGCCGGAACATCCTCTCCTTAAACAAGTGGATCTCGTAGTCAGTGTCAGGCTGCAGGTCCCACTGCGTGTAGGAGCTCTGGTTGTAGCTGACATACTGTGGCGAAAGGGAAGCCCCACCCTTCTCTTCTGCCAGGGAGAGAGGGTGGCAGCAGGGGTGAGTCGGAGTGCCAGGCAACCCCTCTGGCCCAGAGCCCCCTTCCCCACCACGCCCCAAGGCCCCCTTTCACGCTTACCTCCCAAGGCTTTGAACAAGATATGGAACCTGAAGTTGCACTGGCCCTCCTTGGGGACCCAGGAGACGACACTGTAGTTTTCACCCGCTGTGGCTGAGATGTTGCCAAAATCTGAGATCCCTGGGGGGATGCAGGGGAACGAGGAGAGTGTGGCAGCTGCCAGGAAGTCTAAGGCCCTCCCTCCTGGACCCGGCTGGCCGGGGCCTCCCTGTTGGCAGGTCATTCCTCCAGCTTACCAGACAAGGCCATAGTGCCTCCTTCCCGTACGATGGCTTCACCAGGGCCCTCTTTGGTGGTGGCCTGAAGCTGGAAGCGGTACCGCAGGTGGGGGCTGAGATCGGTCAGGTTGTGTGTCCGAAGTTCGGGGTCCCGAAGGTTGAAGGACAGTTGCCCCTTGCCCCCCTCATCCACTGTGGGGACAGACAGGGGTTGGCTGTGGCTGCAGCTCTGCCCCCTCCCCGTGGCCCCTCCACCTCCCTTCCCTGCTGGGGCGGCGCACGCACGGGGGTGGTAGGAGAGCACGTAGCCGGTGAGCACGCCGTTGTGGCTGAGTGGGGGCTGCCAGCGCAGCAGCAGGCTGGTGTTCGACTGGCACTCCAGGTGCAACGCCTCGGGGTGGCCAGGCACTGCAGGGCACAGAACCGAGTGGCAGGTAGGTCCTCGCCCAGGTCTGGGGAGGAGGGCAGGGGATGAGGCGTGGGGTGCAGGACTCACCTCCCTCTGGGGTGCTGAAGGTGAACTCGCTGGCGGGCCCCGATCCTCGCCCGTTAAAGGCCTGCACCTCCAGGTGGTAGGAGCTATAGGGCCGCAAGCCACTGAGGATGACACTGGTGGTGTTGGCGGGCACCACCACATGGTCTTTGTGGATATGTCTCTTGCTGTGCTTCCTCTGACTGCCCTCCCTCCAGTACGTCACCTGCACAAGCGAACAGGAGACCTCGCAGGGGCAGAAGGCACCCAGCAGGGCCCCCAGCGCACACCCCCACCACCCTTAATGGGGACCCTCCTCTCAACCCAAGTCTTCCAGGAGAGCGGCTGGCAGGTGGCAAAGCCCCCTCACCATCCTGTCGCTTTACCTCAGTGATCACCCTCCTGGGCCCCCATGCCTTCAACCCTTACATTGTATCCGCGGAGGTGGCCCTTGACCTGGGCCAGGTCCACCGGCCGCCACTTGACCAGCACGGCACTTGAGTTGAGGATTTCAATGCCTTCCAGCTCAGGGATTGCCTGGGGGTCTGGAAACCACCAGTGACTTGGATAGAGCCATAGGCTCTCACCCCAGCCCTGAGGCCAGGCCCAAGCCCCTACACACAGAGAAGACGAATTCGGATATTTTATGAGGTACAGTTTGAGGAGGAGAGGTGTGTTTGCATGGTCTCAAGATCTCTTCCTGGACTGCTTATTAGTTGCAAAGGTGAAAATAGTAGCTTATACAAAGGAGAAACCATGGCTGGGCGTGATGGTTCACACCCGTATTCCCAACACTTTGGGAGACAGA | GAGGCCACTTGGATGTTGTGTGGTGGGTACCGAAGGCAGCGTGTGTATGGAGCTCCTGAAAGCCGGCCATGGGGTGGGCTGGGCGGCGGGAAGAGGCGGTGCTGCCAGAGTGCGATGCTGGGAGTGGGGGGACTCTGGGCTCTCCAGATGGCCTCCCCTGCCCCCGCGGCCAGTTTGCCCGGCTCCCATCCCGGTTGGAGCAGAGATGGCAAAGAAAAGACAGCAGATGGTGGGGACACCGAGTTCTGTTCCCAGTCCCAGCCAGGCTGGCTGGGGAGTGGCTGGGGGAGGGGGAAGGTGCCAACCCTGGTCCTGAGGAGACCCCACCATGTCTGCCCCCAGTCAGGGAGCAAGAAAGACAGCATTTCGGAGACCCTTTCGGGCCACCCCTACTTCTTCTCCCCCAAACCACAGCCTCTCTGCCCAAATGGGCTGGCAAAACAGCACCCAAAGGCCCCTGGCATGTGGGAGATCTGCCCAAGCTGGGGCAGAGCAGCGTGTGCCCAGGAAGGGGTGCAGCTGGGTTTTGGCAATAAAGTGGGGACCGGGTGGTAGGAAGGGGATCCGAGGCAGCAAGTTCTCCTCTGCCCCAACTCCAGCCTCCCATGGGCCTGCTGGAGAGGGAGGGGCCTGGATCCCAAGGCCAGGGGCACAGCATCTCCTGTCCTGGACTCCACTATTCTAGGGCCACGGCAGGGTTGATGGGGGAAGTGGCCCCTGAGCTGTCATTGCCCCCTGCCGCCTCCTTCTCCTTCTTGCCACTGTACTGGCCAATGAACGAACCATCCTCGTTGAACTGAACATCCACGCTGCCCCCATAATCGGCCAGGCTGTCGTCACTGCCCAGGGGCTTGATGTCCCCGTTGAGCGATGGCTGGCTGCTGCCAAAGGCCTTCTCCTCGTTGTCACTGCAGAGGCACAGGGCAGGTGCGAGTGAGAGCACTGCCGAGCCCCTGCAGGAGCCTGGCTGGGGGTGAGGCAGACGCCCGCCTGCCTTCCATTTGTTTAGAATGCGCTCAGAAAGAGCAGCTCTGGCCACCCTGGCAGGCAGGTCTGGAGCTGTCATCTTTGGGCATTCCCCAGATCCTGGGGACTGTGAGGGAGAAAATGTGCGCTCGGCCAGGGGATTATGGGGCCTGGTTCCTGTCTGGGAAGCTGTCTGGGGCCTCCCTTGGGGAGAGGGGAGCAGTGAAGGTATCTGTGTGGAGAGGAGGGGCTGGGGCGTGTTGGCCTCTCCCTGAAATGAGGAGCTGCCGGGCCTGGGGGCTGGGAAGTGAGAGTCCTGTCAGAGCCCCGGCAGCCAGGGGACAATGGCACACCAGGCGCACATTGTCTATAGGGAGACCTTGCTGTTGGCCCCTCCCCACCGCCCCTGCCTTACCTCTCCAGGGACCTGAAGTCACCCGGCAGCACAGAGAAGAGAGAGAGGGGGTGAGATGTGAAGGCCAGGGTGGAGCTGAGTGCCAGCACCCACTCCTGCCCCGGCTCACCTGTACTCGCCGAAGGTCTCATCTTTCATCGGTCGGGCCTCAGAGTCCACCTGGGTGTCCTCCTTATCCTTCACTGGAGACACAGAGAGGGACAGCTTCTTCTCCCGCCCCAGCCTGACCCGGGGCTCCAGGCCCCTCTACGCCCCGCACCCCCAGCACTCTGTCTCAACAGCGCCCAGAGGCAAGAGGCCTTGAAAGAAACCGCTCACCCCCTGCGGTCCAGCCACCACTTGCCTGTTGCCCCAACCCCGGCCTGGGAGGATGATCCCCCTGCCTGCCCCCACCATGCGCCTGTCATCTTGTGGGGAGCTCGGGGAATCCAGGAGGCCTTGCAGAAGGGTGGAAGGGGCGAGGTGCTCCTCTCTGCCCTCGGCTCCACCCCCGTCACGTGGGGCTCAGAGGCTACCTGAGTATTTGCCGCCCTTGCTGCGCTTGATGAAGCAGAGGATGAGCAGGACGAGGAGCAGGAGGATGATGGCACTCACAAAGCCGATGAACCAGCCCTCAGTGGCGAAGCCAGCAGGAGGGAGCCTCACGCGGCCTGAGGGTGAGACACCAGCCCCCCCGTGCTGCCGCCCAAGCCAGAACCCGACCTGAGGCCCTGAAGTATGCTCTTAAAGTTGGGGCCCTCTGGGGGGCTAAGGAGTGACAGGGACAGGGAAAAGGGCATCTGCGGAAAGGGTATGAAAGGGGGCTGATTCGGGGACACCCAGATTCTGGGAGGAGAAGCAGACAGGAGCCGTGGAGGGAGCCTGGGCAGTAGTGGCCATTCAGGGGACAGAAGGACATGAATTGTGCAGCCCCCATGCTTCCCTGGCAGGTGATGGCGGGCCCCCGGCGCCTCACCTGTGCCATTGGTCTTCACAGCCATTTGGTGCCGGAACATCCTCTCCTTAAACAAGTGGATCTCGTAGTCAGTGTCAGGCTGCAGGTCCCACTGCGTGTAGGAGCTCTGGTTGTAGCTGACATACTGTGGCGAAAGGGAAGCCCCACCCTTCTCTTCTGCCAGGGAGAGAGGGTGGCAGCAGGGGTGAGTCGGAGTGCCAGGCAACCCCTCTGGCCCAGAGCCCCCTTCCCCACCACGCCCCAAGGCCCCCTTTCACGCTTACCTCCCAAGGCTTTGAACAAGATATGGAACCTGAAGTTGCACTGGCCCTCCTTGGGGACCCAGGAGACGACACTGTAGTTTTCACCCGCTGTGGCTGAGATGTTGCCAAAATCTGAGATCCCTGGGGGGATGCAGGGGAACGAGGAGAGTGTGGCAGCTGCCAGGAAGTCTAAGGCCCTCCCTCCTGGACCCGGCTGGCCGGGGCCTCCCTGTTGGCAGGTCATTCCTCCAGCTTACCAGACAAGGCCATAGTGCCTCCTTCCCGTACGATGGCTTCACCAGGGCCCTCTTTGGTGGTGGCCTGAAGCTGGAAGCGGTACCGCAGGTGGGGGCTGAGATCGGTCAGGTTGTGTGTCCGAAGTTCGGGGTCCCGAAGGTTGAAGGACAGTTGCCCCTTGCCCCCCTCATCCACTGTGGGGACAGACAGGGGTTGGCTGTGGCTGCAGCTCTGCCCCCTCCCCGTGGCCCCTCCACCTCCCTTCCCTGCTGGGGCGGCGCACGCACGGGGGTGGTAGGAGAGCACGTAGCCGGTGAGCACGCCGTTGTGGCTGAGTGGGGGCTGCCAGCGCAGCAGCAGGCTGGTGTTCGACTGGCACTCCAGGTGCAACGCCTCGGGGTGGCCAGGCACTGCAGGGCACAGAACCGAGTGGCAGGTAGGTCCTCGCCCAGGTCTGGGGAGGAGGGCAGGGGATGAGGCGTGGGGTGCAGGACTCACCTCCCTCTGGGGTGCTGAAGGTGAACTCGCTGGCGGGCCCCGATCCTCGCCCGTTAAAGGCCTGCACCTCCAGGTGGTAGGAGCTATAGGGCCGCAAGCCACTGAGGATGACACTGGTGGTGTTGGCGGGCACCACCACATGGTCTTTGTGGATATGTCTCTTGCTGTGCTTCCTCTGACTGCCCTCCCTCCAGTACGTCACCTGCACAAGCGAACAGGAGACCTCGCAGGGGCAGAAGGCACCCAGCAGGGCCCCCAGCGCACACCCCCACCACCCTTAATGGGGACCCTCCTCTCAACCCAAGTCTTCCAGGAGAGCGGCTGGCAGGTGGCAAAGCCCCCTCACCATCCTGTCGCTTTACCTCAGTGATCACCCTCCTGGGCCCCCATGCCTTCAACCCTTACATTGTATCCGCGGAGGTGGCCCTTGACCTGGGCCAGGTCCACCGGCCGCCACTTGACCAGCACGGCACTTGAGTTGAGGATTTCAATGCCTTCCAGCTCAGGGATTGCCTGGGGGTCTGGAAACCACCAGTGACTTGGATAGAGCCATAGGCTCTCACCCCAGCCCTGAGGCCAGGCCCAAGCCCCTACACACAGAGAAGACGAATTCGGATATTTTATGAGGTACAGTTTGAGGAGGAGAGGTGTGTTTGCATGGTCTCAAGATCTCTTCCTGGACTGCTTATTAGTTGCAAAGGTGAAAATAGTAGCTTATACAAAGGAGAAACCATGGCTGGGCGTGATGGTTCACACCCGTATTCCCAACACTTTGGGAGACAG | benign | 340,674 |
For chromosome X, position 153865450, gene L1CAM (L1 cell adhesion molecule): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['MASA_syndrome', 'X-linked_hydrocephalus_syndrome'] | AGAAGAGAGAGAGGGGGTGAGATGTGAAGGCCAGGGTGGAGCTGAGTGCCAGCACCCACTCCTGCCCCGGCTCACCTGTACTCGCCGAAGGTCTCATCTTTCATCGGTCGGGCCTCAGAGTCCACCTGGGTGTCCTCCTTATCCTTCACTGGAGACACAGAGAGGGACAGCTTCTTCTCCCGCCCCAGCCTGACCCGGGGCTCCAGGCCCCTCTACGCCCCGCACCCCCAGCACTCTGTCTCAACAGCGCCCAGAGGCAAGAGGCCTTGAAAGAAACCGCTCACCCCCTGCGGTCCAGCCACCACTTGCCTGTTGCCCCAACCCCGGCCTGGGAGGATGATCCCCCTGCCTGCCCCCACCATGCGCCTGTCATCTTGTGGGGAGCTCGGGGAATCCAGGAGGCCTTGCAGAAGGGTGGAAGGGGCGAGGTGCTCCTCTCTGCCCTCGGCTCCACCCCCGTCACGTGGGGCTCAGAGGCTACCTGAGTATTTGCCGCCCTTGCTGCGCTTGATGAAGCAGAGGATGAGCAGGACGAGGAGCAGGAGGATGATGGCACTCACAAAGCCGATGAACCAGCCCTCAGTGGCGAAGCCAGCAGGAGGGAGCCTCACGCGGCCTGAGGGTGAGACACCAGCCCCCCGTGCTGCCGCCCAAGCCAGAACCCGACCTGAGGCCCTGAAGTATGCTCTTAAAGTTGGGGCCCTCTGGGGGGCTAAGGAGTGACAGGGACAGGGAAAAGGGCATCTGCGGAAAGGGTATGAAAGGGGGCTGATTCGGGGACACCCAGATTCTGGGAGGAGAAGCAGACAGGAGCCGTGGAGGGAGCCTGGGCAGTAGTGGCCATTCAGGGGACAGAAGGACATGAATTGTGCAGCCCCCATGCTTCCCTGGCAGGTGATGGCGGGCCCCCGGCGCCTCACCTGTGCCATTGGTCTTCACAGCCATTTGGTGCCGGAACATCCTCTCCTTAAACAAGTGGATCTCGTAGTCAGTGTCAGGCTGCAGGTCCCACTGCGTGTAGGAGCTCTGGTTGTAGCTGACATACTGTGGCGAAAGGGAAGCCCCACCCTTCTCTTCTGCCAGGGAGAGAGGGTGGCAGCAGGGGTGAGTCGGAGTGCCAGGCAACCCCTCTGGCCCAGAGCCCCCTTCCCCACCACGCCCCAAGGCCCCCTTTCACGCTTACCTCCCAAGGCTTTGAACAAGATATGGAACCTGAAGTTGCACTGGCCCTCCTTGGGGACCCAGGAGACGACACTGTAGTTTTCACCCGCTGTGGCTGAGATGTTGCCAAAATCTGAGATCCCTGGGGGGATGCAGGGGAACGAGGAGAGTGTGGCAGCTGCCAGGAAGTCTAAGGCCCTCCCTCCTGGACCCGGCTGGCCGGGGCCTCCCTGTTGGCAGGTCATTCCTCCAGCTTACCAGACAAGGCCATAGTGCCTCCTTCCCGTACGATGGCTTCACCAGGGCCCTCTTTGGTGGTGGCCTGAAGCTGGAAGCGGTACCGCAGGTGGGGGCTGAGATCGGTCAGGTTGTGTGTCCGAAGTTCGGGGTCCCGAAGGTTGAAGGACAGTTGCCCCTTGCCCCCCTCATCCACTGTGGGGACAGACAGGGGTTGGCTGTGGCTGCAGCTCTGCCCCCTCCCCGTGGCCCCTCCACCTCCCTTCCCTGCTGGGGCGGCGCACGCACGGGGGTGGTAGGAGAGCACGTAGCCGGTGAGCACGCCGTTGTGGCTGAGTGGGGGCTGCCAGCGCAGCAGCAGGCTGGTGTTCGACTGGCACTCCAGGTGCAACGCCTCGGGGTGGCCAGGCACTGCAGGGCACAGAACCGAGTGGCAGGTAGGTCCTCGCCCAGGTCTGGGGAGGAGGGCAGGGGATGAGGCGTGGGGTGCAGGACTCACCTCCCTCTGGGGTGCTGAAGGTGAACTCGCTGGCGGGCCCCGATCCTCGCCCGTTAAAGGCCTGCACCTCCAGGTGGTAGGAGCTATAGGGCCGCAAGCCACTGAGGATGACACTGGTGGTGTTGGCGGGCACCACCACATGGTCTTTGTGGATATGTCTCTTGCTGTGCTTCCTCTGACTGCCCTCCCTCCAGTACGTCACCTGCACAAGCGAACAGGAGACCTCGCAGGGGCAGAAGGCACCCAGCAGGGCCCCCAGCGCACACCCCCACCACCCTTAATGGGGACCCTCCTCTCAACCCAAGTCTTCCAGGAGAGCGGCTGGCAGGTGGCAAAGCCCCCTCACCATCCTGTCGCTTTACCTCAGTGATCACCCTCCTGGGCCCCCATGCCTTCAACCCTTACATTGTATCCGCGGAGGTGGCCCTTGACCTGGGCCAGGTCCACCGGCCGCCACTTGACCAGCACGGCACTTGAGTTGAGGATTTCAATGCCTTCCAGCTCAGGGATTGCCTGGGGGTCTGGAAACCACCAGTGACTTGGATAGAGCCATAGGCTCTCACCCCAGCCCTGAGGCCAGGCCCAAGCCCCTACACACAGAGAAGACGAATTCGGATATTTTATGAGGTACAGTTTGAGGAGGAGAGGTGTGTTTGCATGGTCTCAAGATCTCTTCCTGGACTGCTTATTAGTTGCAAAGGTGAAAATAGTAGCTTATACAAAGGAGAAACCATGGCTGGGCGTGATGGTTCACACCCGTATTCCCAACACTTTGGGAGACAGAGGCGAGTGGAACATTTGAGGTCTGGAGTTCGAGACCAACCTGATCAACATGGTGCAACCGCATCTCTACTAAATACGAAAATTAGTTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGCTCCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGGAGAAACCAGAAAAAAAACTTGACCGGGTACTTCAAGTTACCATCTGGTCATGTTCCAGATTCAAGGAAATGAAAGAAGCAGCATTGGCTGATATAACTGGAATACCGCTGCCAATTATAGAAATGTGAAGTGTGGGGAATTTCATAACGTCGCTCTGGTTATGTAAGAGAATATCCTCATCCTTAGGAAAGGCGCACACCAATGCTGAGAGGTGTGGACATGGGCTGGGGTGGAAGCAGGCGAGCTCAACCGTGGGCGAGGGGCCCTGCCGGATACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCC | AGAAGAGAGAGAGGGGGTGAGATGTGAAGGCCAGGGTGGAGCTGAGTGCCAGCACCCACTCCTGCCCCGGCTCACCTGTACTCGCCGAAGGTCTCATCTTTCATCGGTCGGGCCTCAGAGTCCACCTGGGTGTCCTCCTTATCCTTCACTGGAGACACAGAGAGGGACAGCTTCTTCTCCCGCCCCAGCCTGACCCGGGGCTCCAGGCCCCTCTACGCCCCGCACCCCCAGCACTCTGTCTCAACAGCGCCCAGAGGCAAGAGGCCTTGAAAGAAACCGCTCACCCCCTGCGGTCCAGCCACCACTTGCCTGTTGCCCCAACCCCGGCCTGGGAGGATGATCCCCCTGCCTGCCCCCACCATGCGCCTGTCATCTTGTGGGGAGCTCGGGGAATCCAGGAGGCCTTGCAGAAGGGTGGAAGGGGCGAGGTGCTCCTCTCTGCCCTCGGCTCCACCCCCGTCACGTGGGGCTCAGAGGCTACCTGAGTATTTGCCGCCCTTGCTGCGCTTGATGAAGCAGAGGATGAGCAGGACGAGGAGCAGGAGGATGATGGCACTCACAAAGCCGATGAACCAGCCCTCAGTGGCGAAGCCAGCAGGAGGGAGCCTCACGCGGCCTGAGGGTGAGACACCAGCCCCCCGTGCTGCCGCCCAAGCCAGAACCCGACCTGAGGCCCTGAAGTATGCTCTTAAAGTTGGGGCCCTCTGGGGGGCTAAGGAGTGACAGGGACAGGGAAAAGGGCATCTGCGGAAAGGGTATGAAAGGGGGCTGATTCGGGGACACCCAGATTCTGGGAGGAGAAGCAGACAGGAGCCGTGGAGGGAGCCTGGGCAGTAGTGGCCATTCAGGGGACAGAAGGACATGAATTGTGCAGCCCCCATGCTTCCCTGGCAGGTGATGGCGGGCCCCCGGCGCCTCACCTGTGCCATTGGTCTTCACAGCCATTTGGTGCCGGAACATCCTCTCCTTAAACAAGTGGATCTCGTAGTCAGTGTCAGGCTGCAGGTCCCACTGCGTGTAGGAGCTCTGGTTGTAGCTGACATACTGTGGCGAAAGGGAAGCCCCACCCTTCTCTTCTGCCAGGGAGAGAGGGTGGCAGCAGGGGTGAGTCGGAGTGCCAGGCAACCCCTCTGGCCCAGAGCCCCCTTCCCCACCACGCCCCAAGGCCCCCTTTCACGCTTACCTCCCAAGGCTTTGAACAAGATATGGAACCTGAAGTTGCACTGGCCCTCCTTGGGGACCCAGGAGACGACACTGTAGTTTTCACCCGCTGTGGCTGAGATGTTGCCAAAATCTGAGATCCCTGGGGGGATGCAGGGGAACGAGGAGAGTGTGGCAGCTGCCAGGAAGTCTAAGGCCCTCCCTCCTGGACCCGGCTGGCCGGGGCCTCCCTGTTGGCAGGTCATTCCTCCAGCTTACCAGACAAGGCCATAGTGCCTCCTTCCCGTACGATGGCTTCACCAGGGCCCTCTTTGGTGGTGGCCTGAAGCTGGAAGCGGTACCGCAGGTGGGGGCTGAGATCGGTCAGGTTGTGTGTCCGAAGTTCGGGGTCCCGAAGGTTGAAGGACAGTTGCCCCTTGCCCCCCTCATCCACTGTGGGGACAGACAGGGGTTGGCTGTGGCTGCAGCTCTGCCCCCTCCCCGTGGCCCCTCCACCTCCCTTCCCTGCTGGGGCGGCGCACGCACGGGGGTGGTAGGAGAGCACGTAGCCGGTGAGCACGCCGTTGTGGCTGAGTGGGGGCTGCCAGCGCAGCAGCAGGCTGGTGTTCGACTGGCACTCCAGGTGCAACGCCTCGGGGTGGCCAGGCACTGCAGGGCACAGAACCGAGTGGCAGGTAGGTCCTCGCCCAGGTCTGGGGAGGAGGGCAGGGGATGAGGCGTGGGGTGCAGGACTCACCTCCCTCTGGGGTGCTGAAGGTGAACTCGCTGGCGGGCCCCGATCCTCGCCCGTTAAAGGCCTGCACCTCCAGGTGGTAGGAGCTATAGGGCCGCAAGCCACTGAGGATGACACTGGTGGTGTTGGCGGGCACCACCACATGGTCTTTGTGGATGTCTCTTGCTGTGCTTCCTCTGACTGCCCTCCCTCCAGTACGTCACCTGCACAAGCGAACAGGAGACCTCGCAGGGGCAGAAGGCACCCAGCAGGGCCCCCAGCGCACACCCCCACCACCCTTAATGGGGACCCTCCTCTCAACCCAAGTCTTCCAGGAGAGCGGCTGGCAGGTGGCAAAGCCCCCTCACCATCCTGTCGCTTTACCTCAGTGATCACCCTCCTGGGCCCCCATGCCTTCAACCCTTACATTGTATCCGCGGAGGTGGCCCTTGACCTGGGCCAGGTCCACCGGCCGCCACTTGACCAGCACGGCACTTGAGTTGAGGATTTCAATGCCTTCCAGCTCAGGGATTGCCTGGGGGTCTGGAAACCACCAGTGACTTGGATAGAGCCATAGGCTCTCACCCCAGCCCTGAGGCCAGGCCCAAGCCCCTACACACAGAGAAGACGAATTCGGATATTTTATGAGGTACAGTTTGAGGAGGAGAGGTGTGTTTGCATGGTCTCAAGATCTCTTCCTGGACTGCTTATTAGTTGCAAAGGTGAAAATAGTAGCTTATACAAAGGAGAAACCATGGCTGGGCGTGATGGTTCACACCCGTATTCCCAACACTTTGGGAGACAGAGGCGAGTGGAACATTTGAGGTCTGGAGTTCGAGACCAACCTGATCAACATGGTGCAACCGCATCTCTACTAAATACGAAAATTAGTTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGCTCCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGGAGAAACCAGAAAAAAAACTTGACCGGGTACTTCAAGTTACCATCTGGTCATGTTCCAGATTCAAGGAAATGAAAGAAGCAGCATTGGCTGATATAACTGGAATACCGCTGCCAATTATAGAAATGTGAAGTGTGGGGAATTTCATAACGTCGCTCTGGTTATGTAAGAGAATATCCTCATCCTTAGGAAAGGCGCACACCAATGCTGAGAGGTGTGGACATGGGCTGGGGTGGAAGCAGGCGAGCTCAACCGTGGGCGAGGGGCCCTGCCGGATACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCNN | pathogenic | 340,691 |
Does the variant on chromosome X at location 153868136 affecting gene L1CAM (L1 cell adhesion molecule) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GTGGAACATTTGAGGTCTGGAGTTCGAGACCAACCTGATCAACATGGTGCAACCGCATCTCTACTAAATACGAAAATTAGTTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGCTCCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGGAGAAACCAGAAAAAAAACTTGACCGGGTACTTCAAGTTACCATCTGGTCATGTTCCAGATTCAAGGAAATGAAAGAAGCAGCATTGGCTGATATAACTGGAATACCGCTGCCAATTATAGAAATGTGAAGTGTGGGGAATTTCATAACGTCGCTCTGGTTATGTAAGAGAATATCCTCATCCTTAGGAAAGGCGCACACCAATGCTGAGAGGTGTGGACATGGGCTGGGGTGGAAGCAGGCGAGCTCAACCGTGGGCGAGGGGCCCTGCCGGATACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCCAGACTGTACCATTTTTCAGGCGCCATTTCCTTGTCCTCAAATTCAATGTCATATTCTGCCAAGAAATGAACCGACAATGGAGTGATCAGCATGTGGCTTTGGGGGAAGGGCTGTGGAGGGGTTGGGTACAGTCTGGGTCCCTGATTACCCAGGCCAACTGGCATCTCCAGATTCCCATGAGGAACCGTGAGTCCCCCCAAACCGTGTCCCCCCAGGAAGGCTCCAGGAGGAGGGAGGACCCCAGGAGGGGCCAGGGCTGGCAGAAGTGACGGTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTG | GTGGAACATTTGAGGTCTGGAGTTCGAGACCAACCTGATCAACATGGTGCAACCGCATCTCTACTAAATACGAAAATTAGTTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGCTCCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGGAGAAACCAGAAAAAAAACTTGACCGGGTACTTCAAGTTACCATCTGGTCATGTTCCAGATTCAAGGAAATGAAAGAAGCAGCATTGGCTGATATAACTGGAATACCGCTGCCAATTATAGAAATGTGAAGTGTGGGGAATTTCATAACGTCGCTCTGGTTATGTAAGAGAATATCCTCATCCTTAGGAAAGGCGCACACCAATGCTGAGAGGTGTGGACATGGGCTGGGGTGGAAGCAGGCGAGCTCAACCGTGGGCGAGGGGCCCTGCCGGATACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCCAGACTGTACCATTTTTCAGGCGCCATTTCCTTGTCCTCAAATTCAATGTCATATTCTGCCAAGAAATGAACCGACAATGGAGTGATCAGCATGTGGCTTTGGGGGAAGGGCTGTGGAGGGGTTGGGTACAGTCTGGGTCCCTGATTACCCAGGCCAACTGGCATCTCCAGATTCCCATGAGGAACCGTGAGTCCCCCCAAACCGTGTCCCCCCAGGAAGGCTCCAGGAGGAGGGAGGACCCCAGGAGGGGCCAGGGCTGGCAGAAGTGACGGTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGNNNN | benign | 340,716 |
Is the genetic mutation found on chromosome X at position 153868578, within the gene L1CAM (L1 cell adhesion molecule), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['L1CAM-related_disorder', 'Spastic_paraplegia'] | TGTAAGAGAATATCCTCATCCTTAGGAAAGGCGCACACCAATGCTGAGAGGTGTGGACATGGGCTGGGGTGGAAGCAGGCGAGCTCAACCGTGGGCGAGGGGCCCTGCCGGATACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCCAGACTGTACCATTTTTCAGGCGCCATTTCCTTGTCCTCAAATTCAATGTCATATTCTGCCAAGAAATGAACCGACAATGGAGTGATCAGCATGTGGCTTTGGGGGAAGGGCTGTGGAGGGGTTGGGTACAGTCTGGGTCCCTGATTACCCAGGCCAACTGGCATCTCCAGATTCCCATGAGGAACCGTGAGTCCCCCCAAACCGTGTCCCCCCAGGAAGGCTCCAGGAGGAGGGAGGACCCCAGGAGGGGCCAGGGCTGGCAGAAGTGACGGTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGT | TGTAAGAGAATATCCTCATCCTTAGGAAAGGCGCACACCAATGCTGAGAGGTGTGGACATGGGCTGGGGTGGAAGCAGGCGAGCTCAACCGTGGGCGAGGGGCCCTGCCGGATACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCCAGACTGTACCATTTTTCAGGCGCCATTTCCTTGTCCTCAAATTCAATGTCATATTCTGCCAAGAAATGAACCGACAATGGAGTGATCAGCATGTGGCTTTGGGGGAAGGGCTGTGGAGGGGTTGGGTACAGTCTGGGTCCCTGATTACCCAGGCCAACTGGCATCTCCAGATTCCCATGAGGAACCGTGAGTCCCCCCAAACCGTGTCCCCCCAGGAAGGCTCCAGGAGGAGGGAGGACCCCAGGAGGGGCCAGGGCTGGCAGAAGTGACGGTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTN | pathogenic | 340,722 |
Variant chromosome X, position 153905886, gene AVPR2 (arginine vasopressin receptor 2): benign or pathogenic? Disease(s)? | pathogenic; ['Diabetes_insipidus,_nephrogenic,_X-linked', 'Inborn_genetic_diseases'] | CTCGGCTGAGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTA | CTCGGCTGAGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTANNN | pathogenic | 340,799 |
Does the chromosome X mutation at position 153905976 within gene AVPR2 (arginine vasopressin receptor 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Nephrogenic_diabetes_insipidus'] | GAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAG | GAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGN | pathogenic | 340,806 |
The mutation impacting AVPR2 (arginine vasopressin receptor 2) on chromosome X at position 153906058: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Nephrogenic_diabetes_insipidus'] | GCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCA | GCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCAN | pathogenic | 340,811 |
Evaluate the clinical significance of the mutation at chromosome X, position 153906238 in gene AVPR2 (arginine vasopressin receptor 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Diabetes_insipidus,_nephrogenic,_X-linked'] | GCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCTGAGGACAGCAATTCCTTGGTTTAGCCCGGAAGTGGGGACCCCCCTCTTCTCGCCCCCACTCTTTCCCTGGCAGAGATCACAGCCCCCTGCCCATGGCCTCAGGGACCGCCAGCGTGCGGGGACTC | GCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCTGAGGACAGCAATTCCTTGGTTTAGCCCGGAAGTGGGGACCCCCCTCTTCTCGCCCCCACTCTTTCCCTGGCAGAGATCACAGCCCCCTGCCCATGGCCTCAGGGACCGCCAGCGTGCGGGGACTCN | pathogenic | 340,817 |
Clinical significance of chromosome X, position 153906253, gene AVPR2 (arginine vasopressin receptor 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Diabetes_insipidus,_nephrogenic,_X-linked', 'Nephrogenic_diabetes_insipidus', 'Nephrogenic_syndrome_of_inappropriate_antidiuresis'] | TGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCTGAGGACAGCAATTCCTTGGTTTAGCCCGGAAGTGGGGACCCCCCTCTTCTCGCCCCCACTCTTTCCCTGGCAGAGATCACAGCCCCCTGCCCATGGCCTCAGGGACCGCCAGCGTGCGGGGACTCCCCAGTCAATGTCCT | TGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCTGAGGACAGCAATTCCTTGGTTTAGCCCGGAAGTGGGGACCCCCCTCTTCTCGCCCCCACTCTTTCCCTGGCAGAGATCACAGCCCCCTGCCCATGGCCTCAGGGACCGCCAGCGTGCGGGGACTCCCCAGTCAATGTCCTNNNNNNN | pathogenic | 340,819 |
Gene AVPR2 (arginine vasopressin receptor 2) variant at chromosome X, position 153906274—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Nephrogenic_diabetes_insipidus'] | GTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCTGAGGACAGCAATTCCTTGGTTTAGCCCGGAAGTGGGGACCCCCCTCTTCTCGCCCCCACTCTTTCCCTGGCAGAGATCACAGCCCCCTGCCCATGGCCTCAGGGACCGCCAGCGTGCGGGGACTCCCCAGTCAATGTCCTCCCATGGCGTCTCCTGGCTGC | GTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCTGAGGACAGCAATTCCTTGGTTTAGCCCGGAAGTGGGGACCCCCCTCTTCTCGCCCCCACTCTTTCCCTGGCAGAGATCACAGCCCCCTGCCCATGGCCTCAGGGACCGCCAGCGTGCGGGGACTCCCCAGTCAATGTCCTCCCATGGCGTCTCCTGGCTGCN | pathogenic | 340,821 |
The genetic variant at chromosome X, position 153906337, affecting gene AVPR2 (arginine vasopressin receptor 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Diabetes_insipidus,_nephrogenic,_X-linked'] | AGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCTGAGGACAGCAATTCCTTGGTTTAGCCCGGAAGTGGGGACCCCCCTCTTCTCGCCCCCACTCTTTCCCTGGCAGAGATCACAGCCCCCTGCCCATGGCCTCAGGGACCGCCAGCGTGCGGGGACTCCCCAGTCAATGTCCTCCCATGGCGTCTCCTGGCTGCCCTGTCCCTGGCTCCCGCTCCTGCTCCTCCGTGTCTACCGGACCCTCCCTGGGCTCCCTGGGC | AGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCTGAGGACAGCAATTCCTTGGTTTAGCCCGGAAGTGGGGACCCCCCTCTTCTCGCCCCCACTCTTTCCCTGGCAGAGATCACAGCCCCCTGCCCATGGCCTCAGGGACCGCCAGCGTGCGGGGACTCCCCAGTCAATGTCCTCCCATGGCGTCTCCTGGCTGCCCTGTCCCTGGCTCCCGCTCCTGCTCCTCCGTGTCTACCGGACCCTCCCTGGGCTCCCTGGGCNNN | pathogenic | 340,823 |
Evaluate if the mutation on chromosome X at position 153906591 in AVPR2 (arginine vasopressin receptor 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic | GGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCTGAGGACAGCAATTCCTTGGTTTAGCCCGGAAGTGGGGACCCCCCTCTTCTCGCCCCCACTCTTTCCCTGGCAGAGATCACAGCCCCCTGCCCATGGCCTCAGGGACCGCCAGCGTGCGGGGACTCCCCAGTCAATGTCCTCCCATGGCGTCTCCTGGCTGCCCTGTCCCTGGCTCCCGCTCCTGCTCCTCCGTGTCTACCGGACCCTCCCTGGGCTCCCTGGGCCTGGGGGCTTGGCCACACCTGGGACACCCGCATGTTCTTGGGCTCTCTCCTCCTTGGGCTTAGCAACTGTCCCGCGGGCTTCCACGTTCAGCCCGACAGTGTTCACAGGGCCCATGGTACAGAGCACGGAGCAGGGTCCCCCAGGTTGTGCGCTTGCCAGGGCCACATCTTGAGCCTTCGCTCTGCTCCTTCGAGAGCCGCTGCTGCCCCACCCCAATCCCCAACCAGCCACCCCCTCCTGCCTCCCTGCCATC 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GGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCTGAGGACAGCAATTCCTTGGTTTAGCCCGGAAGTGGGGACCCCCCTCTTCTCGCCCCCACTCTTTCCCTGGCAGAGATCACAGCCCCCTGCCCATGGCCTCAGGGACCGCCAGCGTGCGGGGACTCCCCAGTCAATGTCCTCCCATGGCGTCTCCTGGCTGCCCTGTCCCTGGCTCCCGCTCCTGCTCCTCCGTGTCTACCGGACCCTCCCTGGGCTCCCTGGGCCTGGGGGCTTGGCCACACCTGGGACACCCGCATGTTCTTGGGCTCTCTCCTCCTTGGGCTTAGCAACTGTCCCGCGGGCTTCCACGTTCAGCCCGACAGTGTTCACAGGGCCCATGGTACAGAGCACGGAGCAGGGTCCCCCAGGTTGTGCGCTTGCCAGGGCCACATCTTGAGCCTTCGCTCTGCTCCTTCGAGAGCCGCTGCTGCCCCACCCCAATCCCCAACCAGCCACCCCCTCCTGCCTCCCTGCCATCNNNNNNNNNNNNN | pathogenic | 340,828 |
Gene mutation in HCFC1 (host cell factor C1) at chromosome X, position 153951470—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TGGGCCCTGCACCACTGGAGGCCCTGCTGGTGCAGGGCCGGTTAGGGGCCCCCAGTCATTTGACAAGAGGCTGAACCCAGCTATTTCCACCCCTAGTCTCAGAAGGTTCCCGAGAGGGGCTTCCTGCTTACATTTCTGGAGAGGACATGGGCCGCTTGTTGGCTGGCTTGGTGCCAGAGCTGTCTTTACTGGTTTCTGGAAGGAACGGGAGAGATGCGTGAGCAGCATTGTGACAGAACGAGAGCAAGGAACACATGCGCCCTGCCCGCCTGCAGAGTCTCTTGGTGCCACATGGCATGACCCGCAGCTGGCAAGGGTGGGGCGCCTGCCCTATGGGTGGTCACCTTTTACGCCACTCCTTGGGACCAGAACACGACACCACTCACTCCCCTCTGGACGTAGGTTAGAAACCCACTCAGCTCAGCTCCCACCTCTCACTGCCCTCCCAGGTCCCAGAGCCCCAGGGGAGCTGGAGCAGGAGCATGACCTGACAGGAGGCAGGCTGGCCTCCATCCCTCACCTGCTGCACTCCAGGGACCTGGGACGTGCTGTTTTCGGGCCTGGAAACCTACACTTTCCCGCCAGCCCTCTCACTGCTTGTCCCCTCAAACATCCTGGGGTGGCGTCCCCTGCACCCCCAGGCCCGGAGCTGGGTCCCCTGCTCTACTTGATGGCCACCCCCGTGGGGGGCTGTGTGCGCGCCAAAGGAAGCAGGGAGACGCCGCACATGGGAAAAAATCTCAGATGGTGACAGTTCCTCCTGCTGCACCCGGCTTCCTGGGCCTTCCCTGTGCCTGAAGAGCTCCACGAAGGACACTCACCCTGCAGCCACCTCACTTGTGTGGCCGGGCCATAGCCCTTCTCATTGCGGGCGGCGATGCGGAAGATGATGGCGGGCTTGGTGGTGTAGTCGATGTGGGCGTTGGAAAGGCTGGAGGACTGCACCAGGCAGGAGGGGCTGGGCCCGCAGTACACCCGCATGAAGGCCAGCTGGGCCGGGGTGGAGCTCTTGAGCTCGCCCCCAGCCTGTGAGCTCTGGATGGCCAGGTACACGGAGTACTCGATAATCTTGCCGGAGGTCACAGAGGGTGGCTCCCAGGTGAGGTGAGCACCATCCGGACTCTAGAAGCCAGGGGGTCAGAAGGTCAACAGAACAGGCTAGAGGCTTCCAGAACTGACTAATCATGGTTCCCATAAGCCATTTTCTAACACAGTAGAGATATTCCATGTGGTAGTTCAAGGAGCTTCAAAGAGATCTTCCCCCAAGTGGAAGGACTAAGACAAACTGGGACTCAAAACCTAGCTCTCCTATGCCCCCCCCCGGCCACCTCATGTGCTGAGGCAGGCAGAAACCAACCAGGGACAGACGGCCACCCCACAGCAAGACTCACTTTGCTGATTTTAATGGCACAAGGGGCCCCTGGGAAACCAGGCAGGCACGTCTTAAAGGCTGAGATTTCGCTGAAGGGCCCCCGGCCACAGGCATTGATTCCGGCAACACGAAACTTATAGGCTGTGCCTGGCTGCAGCTCCTGCTTCTTCAGCTGGTTATAGTCAGGGACGGTGCCCAAATCATCCTAGGAAAAGAGGAGTGGCATGAACGCCACTGTGGAGAAGGCAGCTCTGGGCCACCCCAGGAACACTGCAGGTCCATGGTAACTATGGGCCAGAGGGAAAAGAGGTCAGCGGTGGCTGGCCCCTCACGGCAAGGAGGGACGTGGCGAGGCTGACTGTGGCCCGGTACTGGCGGGAAGGAACCAAAGCTCTCCTTTTCTACTGCTTCAGGGGGGATGGTCTCTGCCCACCTTCCTCAGGCTTCCTGGCTACTCAGCTTGGCCCAAAGATGGAGGAGTTTCCTGTAAGCCCCGCTCAGGGTGGTGGAGCCAAGACCCACCCACCTGAGGACATCAGCACCTGGGGACACTTACGTCTGATGGGACAGCATCATCTGGTGGCAGGAAATAGTGTGTCACCATTACATTGGTGCCCTTAATGACTCCCACATCAAACCACTGGTTTTCCTTCTTCATGGGGGCTTTGCTGGGTGGGGGCGGCAGGTCTGGCTTCTGCAAGACAGAATCGGTGCGACGAGATCAGGCCCTCAGCACCTAGAGGCAGTGCTGCCCCCCAGGCCACGGACTCAGGAGCCCCAACACACCCGACTCACCACACCCAGGGACTCGATGCCATTGGCCACTTCGGTCAGGGTAGCTGCAGCCTGCAGCTTGGCTGGGCTGGCCACCACAACCGGCTGGGGGGCCACAAATGTGTTGGATGGAGCCAGGCCTAGGAAGAAAGAAGGTGTCAGCGGGAAAGACTCGGGAAACCTGGCTCCCAAGTGAGACCGAGCCTCCCGTCCTGCCCTCACCTCCCTGGGTGCCCCCACCACCCCAGCACCAATTCGCCCTCAGTCGCTTACTCTCAGTGGCCGTTGAGGGCAGCAGCGCCACAGTGCTGGGGACCGTGCCGGCCAGCTCATTGAGGCAATTGCTCTCAATGGCTGGGTCGTTGAGACTGTCGGCAGGGGCCAGGGCCTCAGTGGGGAGGTGGTGATGCTGCTGCTGGGCCTGGGCCTCCTGCAGCTGCTGCTGCTGCACCAGGGCAGCCAGCTCCTGCTGTGTCAGCACAATGGGTATGGTGGTGGCCTGGCCCTCCTGACCCTCGGCCGACAGGTGCCCCAGCTCCGCCTGAGTCACGGTTGCTGCTGCCTCGGAGGTGTCCATGGGCTCGCCGGTGCCTGCTCCAGGGTCGAGAGAAACACTACTTACTAGGAAGGCTGGCCAGAAGCGGGCAGCCCGGGCGGAGGCCCCCAAAGCCTGTCCTAGAGACCCCGTCCACCTCCTACCGTGCTCCACTGTAGGCTAAGCCCTGGCCGAGGGGCCCTGCCTGTTTCCCAGGCGCTAACCCCAGCCAGCCTGTTCTACACGGCAGTCTCTACTACTTGGCCTGCCTGGGGTCCCCTGTGCTCGTCCTCCCCATCACATCTGGCTCATGCCACCCTCGAGGGAAATGGGCTCCTCTTCCCAGGCTGTCTCCGCGGCCTATTGCTCCCCCGAGCGGCCCGGCTTCCCCAGGGTTGCACCGGCACTCACCCATGACGGCCTGCTGCGCGGCCTGGAGCACCGCCTGGATGGCCAGGGCCTGGGCTTCCTCCGTGGCTGCGGCCTGGGCAGCTGCTTCTGCAGCAGCCGTCACTGCCAGCTCCTCGGGGGTGAGCCCCGTTACCATGAGGGTGGTGGTGCCAGCTTGGGCCTCGGCCATTAGCTCTTGGGGAAGTGATAACTGGTCTACTTCGGACTGTGTGGGTGGGGGTGGCTGGACCACCACAGTGGCCACCACCGCAGAGCCGGCAGACTCCTGGCCCGAAGATGGCTCCCCTGTGCTGCTCAGATCCACGGCGGCCGGGAGCTCAGGGGTCTGGGAGGCTGACAGGACCTCGGCGGACTCCCCCATCAGGGCTGTGGAAGCCGACTGCAGAAGCTGCCGTGGCGGCAGCTGCTGGCGAGGACCTGGCGACACCTGGAGTTCCTCTGGGGGCTGCAGGATGTCAACAGCAGAGAAGGGCATGTCAGAAGTTTCTGTGTTGGCTATGGTCACTGTTATTTTGGCCGGGATGGGGACTTCAGTAGTCAGAGCCCTTGGGGCAGTCTCAGTCATTGATGAGATCTTCTAGAAAGGGAGAGAAGCCCCTGTCAGAGGGGAGGAGAGGGGCCAGAGCCAGGCAGCAGGGCTGAGAAGCAAGCCAGCCCTCACCTTTCCTTGTGGGCCTAAGTTTTCATTCTTGATGGGCCAGCTCCAGCCCATGTTAAATAGGGAGGGGACAGTGGTTCTCTGACCAGCATGAGGAGAAAGGCCCTTGAGACCCCCGGTCAGGTTTAACCCGTCCTCAGTCACCCTGGCCTGGACAAATGGGCACTCAGACCCCCGCCATGTCTTATACAGGCTGCGGTGAAGTGACACGCGATGAGAACCAGTCCCAGAAATAAAAGCGCCCCAGAGATGCGGGGGACGGTGAGGCTCCTGCCTCCTGCCGCAGCAGGCACCGAGGCTGCCCTTTTATGGTCCGGAAAAGGGACCAGGAGCGGCCCCATGCCTG | TGGGCCCTGCACCACTGGAGGCCCTGCTGGTGCAGGGCCGGTTAGGGGCCCCCAGTCATTTGACAAGAGGCTGAACCCAGCTATTTCCACCCCTAGTCTCAGAAGGTTCCCGAGAGGGGCTTCCTGCTTACATTTCTGGAGAGGACATGGGCCGCTTGTTGGCTGGCTTGGTGCCAGAGCTGTCTTTACTGGTTTCTGGAAGGAACGGGAGAGATGCGTGAGCAGCATTGTGACAGAACGAGAGCAAGGAACACATGCGCCCTGCCCGCCTGCAGAGTCTCTTGGTGCCACATGGCATGACCCGCAGCTGGCAAGGGTGGGGCGCCTGCCCTATGGGTGGTCACCTTTTACGCCACTCCTTGGGACCAGAACACGACACCACTCACTCCCCTCTGGACGTAGGTTAGAAACCCACTCAGCTCAGCTCCCACCTCTCACTGCCCTCCCAGGTCCCAGAGCCCCAGGGGAGCTGGAGCAGGAGCATGACCTGACAGGAGGCAGGCTGGCCTCCATCCCTCACCTGCTGCACTCCAGGGACCTGGGACGTGCTGTTTTCGGGCCTGGAAACCTACACTTTCCCGCCAGCCCTCTCACTGCTTGTCCCCTCAAACATCCTGGGGTGGCGTCCCCTGCACCCCCAGGCCCGGAGCTGGGTCCCCTGCTCTACTTGATGGCCACCCCCGTGGGGGGCTGTGTGCGCGCCAAAGGAAGCAGGGAGACGCCGCACATGGGAAAAAATCTCAGATGGTGACAGTTCCTCCTGCTGCACCCGGCTTCCTGGGCCTTCCCTGTGCCTGAAGAGCTCCACGAAGGACACTCACCCTGCAGCCACCTCACTTGTGTGGCCGGGCCATAGCCCTTCTCATTGCGGGCGGCGATGCGGAAGATGATGGCGGGCTTGGTGGTGTAGTCGATGTGGGCGTTGGAAAGGCTGGAGGACTGCACCAGGCAGGAGGGGCTGGGCCCGCAGTACACCCGCATGAAGGCCAGCTGGGCCGGGGTGGAGCTCTTGAGCTCGCCCCCAGCCTGTGAGCTCTGGATGGCCAGGTACACGGAGTACTCGATAATCTTGCCGGAGGTCACAGAGGGTGGCTCCCAGGTGAGGTGAGCACCATCCGGACTCTAGAAGCCAGGGGGTCAGAAGGTCAACAGAACAGGCTAGAGGCTTCCAGAACTGACTAATCATGGTTCCCATAAGCCATTTTCTAACACAGTAGAGATATTCCATGTGGTAGTTCAAGGAGCTTCAAAGAGATCTTCCCCCAAGTGGAAGGACTAAGACAAACTGGGACTCAAAACCTAGCTCTCCTATGCCCCCCCCCGGCCACCTCATGTGCTGAGGCAGGCAGAAACCAACCAGGGACAGACGGCCACCCCACAGCAAGACTCACTTTGCTGATTTTAATGGCACAAGGGGCCCCTGGGAAACCAGGCAGGCACGTCTTAAAGGCTGAGATTTCGCTGAAGGGCCCCCGGCCACAGGCATTGATTCCGGCAACACGAAACTTATAGGCTGTGCCTGGCTGCAGCTCCTGCTTCTTCAGCTGGTTATAGTCAGGGACGGTGCCCAAATCATCCTAGGAAAAGAGGAGTGGCATGAACGCCACTGTGGAGAAGGCAGCTCTGGGCCACCCCAGGAACACTGCAGGTCCATGGTAACTATGGGCCAGAGGGAAAAGAGGTCAGCGGTGGCTGGCCCCTCACGGCAAGGAGGGACGTGGCGAGGCTGACTGTGGCCCGGTACTGGCGGGAAGGAACCAAAGCTCTCCTTTTCTACTGCTTCAGGGGGGATGGTCTCTGCCCACCTTCCTCAGGCTTCCTGGCTACTCAGCTTGGCCCAAAGATGGAGGAGTTTCCTGTAAGCCCCGCTCAGGGTGGTGGAGCCAAGACCCACCCACCTGAGGACATCAGCACCTGGGGACACTTACGTCTGATGGGACAGCATCATCTGGTGGCAGGAAATAGTGTGTCACCATTACATTGGTGCCCTTAATGACTCCCACATCAAACCACTGGTTTTCCTTCTTCATGGGGGCTTTGCTGGGTGGGGGCAGGTCTGGCTTCTGCAAGACAGAATCGGTGCGACGAGATCAGGCCCTCAGCACCTAGAGGCAGTGCTGCCCCCCAGGCCACGGACTCAGGAGCCCCAACACACCCGACTCACCACACCCAGGGACTCGATGCCATTGGCCACTTCGGTCAGGGTAGCTGCAGCCTGCAGCTTGGCTGGGCTGGCCACCACAACCGGCTGGGGGGCCACAAATGTGTTGGATGGAGCCAGGCCTAGGAAGAAAGAAGGTGTCAGCGGGAAAGACTCGGGAAACCTGGCTCCCAAGTGAGACCGAGCCTCCCGTCCTGCCCTCACCTCCCTGGGTGCCCCCACCACCCCAGCACCAATTCGCCCTCAGTCGCTTACTCTCAGTGGCCGTTGAGGGCAGCAGCGCCACAGTGCTGGGGACCGTGCCGGCCAGCTCATTGAGGCAATTGCTCTCAATGGCTGGGTCGTTGAGACTGTCGGCAGGGGCCAGGGCCTCAGTGGGGAGGTGGTGATGCTGCTGCTGGGCCTGGGCCTCCTGCAGCTGCTGCTGCTGCACCAGGGCAGCCAGCTCCTGCTGTGTCAGCACAATGGGTATGGTGGTGGCCTGGCCCTCCTGACCCTCGGCCGACAGGTGCCCCAGCTCCGCCTGAGTCACGGTTGCTGCTGCCTCGGAGGTGTCCATGGGCTCGCCGGTGCCTGCTCCAGGGTCGAGAGAAACACTACTTACTAGGAAGGCTGGCCAGAAGCGGGCAGCCCGGGCGGAGGCCCCCAAAGCCTGTCCTAGAGACCCCGTCCACCTCCTACCGTGCTCCACTGTAGGCTAAGCCCTGGCCGAGGGGCCCTGCCTGTTTCCCAGGCGCTAACCCCAGCCAGCCTGTTCTACACGGCAGTCTCTACTACTTGGCCTGCCTGGGGTCCCCTGTGCTCGTCCTCCCCATCACATCTGGCTCATGCCACCCTCGAGGGAAATGGGCTCCTCTTCCCAGGCTGTCTCCGCGGCCTATTGCTCCCCCGAGCGGCCCGGCTTCCCCAGGGTTGCACCGGCACTCACCCATGACGGCCTGCTGCGCGGCCTGGAGCACCGCCTGGATGGCCAGGGCCTGGGCTTCCTCCGTGGCTGCGGCCTGGGCAGCTGCTTCTGCAGCAGCCGTCACTGCCAGCTCCTCGGGGGTGAGCCCCGTTACCATGAGGGTGGTGGTGCCAGCTTGGGCCTCGGCCATTAGCTCTTGGGGAAGTGATAACTGGTCTACTTCGGACTGTGTGGGTGGGGGTGGCTGGACCACCACAGTGGCCACCACCGCAGAGCCGGCAGACTCCTGGCCCGAAGATGGCTCCCCTGTGCTGCTCAGATCCACGGCGGCCGGGAGCTCAGGGGTCTGGGAGGCTGACAGGACCTCGGCGGACTCCCCCATCAGGGCTGTGGAAGCCGACTGCAGAAGCTGCCGTGGCGGCAGCTGCTGGCGAGGACCTGGCGACACCTGGAGTTCCTCTGGGGGCTGCAGGATGTCAACAGCAGAGAAGGGCATGTCAGAAGTTTCTGTGTTGGCTATGGTCACTGTTATTTTGGCCGGGATGGGGACTTCAGTAGTCAGAGCCCTTGGGGCAGTCTCAGTCATTGATGAGATCTTCTAGAAAGGGAGAGAAGCCCCTGTCAGAGGGGAGGAGAGGGGCCAGAGCCAGGCAGCAGGGCTGAGAAGCAAGCCAGCCCTCACCTTTCCTTGTGGGCCTAAGTTTTCATTCTTGATGGGCCAGCTCCAGCCCATGTTAAATAGGGAGGGGACAGTGGTTCTCTGACCAGCATGAGGAGAAAGGCCCTTGAGACCCCCGGTCAGGTTTAACCCGTCCTCAGTCACCCTGGCCTGGACAAATGGGCACTCAGACCCCCGCCATGTCTTATACAGGCTGCGGTGAAGTGACACGCGATGAGAACCAGTCCCAGAAATAAAAGCGCCCCAGAGATGCGGGGGACGGTGAGGCTCCTGCCTCCTGCCGCAGCAGGCACCGAGGCTGCCCTTTTATGGTCCGGAAAAGGGACCAGGAGCGGCCCCATGCCTGNNN | benign | 340,895 |
Variant at chromosome X, position 154030268, gene MECP2 (methyl-CpG binding protein 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GTTTCTGGAAGCATAAGACTGCTGTCTCATTTGCTACTTTGATAAGGTACTTCTCAGTTGGACAGATTTAGATATAAGAGACATCTCTGTAAACACAGAAAAGGATATACCAATATGATGAAGATATGCAGCTAGATAAGGACTTCCTGAACAGAGGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGT | GTTTCTGGAAGCATAAGACTGCTGTCTCATTTGCTACTTTGATAAGGTACTTCTCAGTTGGACAGATTTAGATATAAGAGACATCTCTGTAAACACAGAAAAGGATATACCAATATGATGAAGATATGCAGCTAGATAAGGACTTCCTGAACAGAGGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGG | benign | 341,054 |
Evaluate this variant at chromosome X, position 154030370, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | GGATATACCAATATGATGAAGATATGCAGCTAGATAAGGACTTCCTGAACAGAGGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGG | GGATATACCAATATGATGAAGATATGCAGCTAGATAAGGACTTCCTGAACAGAGGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGNNNN | pathogenic | 341,062 |
Is the chromosome X, position 154030374 variant in MECP2 (methyl-CpG binding protein 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Rett_syndrome'] | ATACCAATATGATGAAGATATGCAGCTAGATAAGGACTTCCTGAACAGAGGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTC | ATACCAATATGATGAAGATATGCAGCTAGATAAGGACTTCCTGAACAGAGGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCNNNN | pathogenic | 341,063 |
Variant chromosome X, position 154030411, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Disease(s)? | pathogenic; ['Rett_syndrome', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome'] | TTCCTGAACAGAGGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGC | TTCCTGAACAGAGGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCNN | pathogenic | 341,074 |
Variant chromosome X, position 154030423, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Disease(s)? | pathogenic; ['Severe_neonatal-onset_encephalopathy_with_microcephaly', 'Syndromic_X-linked_intellectual_disability_Lubs_type'] | GGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTC | GGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTT | pathogenic | 341,075 |
Does the chromosome X mutation at position 154030493 within gene MECP2 (methyl-CpG binding protein 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | CCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGT | CCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTNNNNNNNNN | benign | 341,085 |
Variant chromosome X, position 154030518, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Disease(s)? | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTG | CAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGNN | pathogenic | 341,096 |
Variant at chromosome X, position 154030597, gene MECP2 (methyl-CpG binding protein 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Encephalopathy,_neonatal_severeMental_retardation,_X-linked,_syndromic_13Rett_syndrome', 'Rett_syndrome'] | GAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCA | GAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCANNNNNNNNNNNNNNNNN | pathogenic | 341,109 |
Mutation found at chromosome X position 154030612, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAG | GCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | benign | 341,112 |
Chromosome X, position 154030615, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | GAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCC | GAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGCTCAGGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCC | pathogenic | 341,115 |
Determine if the mutation at chromosome X, position 154030617 in gene MECP2 (methyl-CpG binding protein 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Angelman_syndrome', 'Atypical_Rett_syndrome', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | GGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCAT | GGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 341,116 |
Does the chromosome X mutation at position 154030619 within gene MECP2 (methyl-CpG binding protein 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic | AAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCA | AAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCAN | pathogenic | 341,117 |
Is the chromosome X, position 154030620 variant in MECP2 (methyl-CpG binding protein 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Inborn_genetic_diseases', 'Rett_syndrome'] | AGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCAT | AGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 341,120 |
Does the variant on chromosome X at location 154030620 affecting gene MECP2 (methyl-CpG binding protein 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Rett_syndrome'] | AGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCAT | AGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 341,121 |
Variant at chromosome position 154030620, chromosome X, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Autism,_susceptibility_to,_X-linked_3', 'Delayed_gross_motor_development', 'Delayed_speech_and_language_development', 'Inborn_genetic_diseases', 'Loss_of_ambulation', 'MECP2-related_disorder', 'Rett_syndrome', 'Rett_syndrome,_zappella_variant', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'Smith-Magenis_Syndrome-like', 'Syndromic_X-linked_intellectual_disability_Lubs_type', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome', 'likely other unspecified diseases'] | AGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCAT | AGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 341,122 |
Regarding the variant at chromosome X and position 154030621, affecting gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Rett_syndrome'] | GGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATA | GGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 341,123 |
Evaluate if the mutation on chromosome X at position 154030622 in MECP2 (methyl-CpG binding protein 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Rett_syndrome'] | GGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATAC | GGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 341,125 |
Clinical significance of chromosome X, position 154030627, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | GGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCA | GGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 341,129 |
Clinical classification of chromosome X, position 154030627, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Rett_syndrome'] | GGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCA | GGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 341,130 |
Located at chromosome X position 154030627, the variant affecting gene MECP2 (methyl-CpG binding protein 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Angelman_syndrome', 'MECP2-related_disorder', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | GGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCA | GGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 341,131 |
Determine if the mutation at chromosome X, position 154030627 in gene MECP2 (methyl-CpG binding protein 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Autism,_susceptibility_to,_X-linked_3', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'Syndromic_X-linked_intellectual_disability_Lubs_type', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome'] | GGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCA | GGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 341,132 |
Does the variant on chromosome X at location 154030630 affecting gene MECP2 (methyl-CpG binding protein 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Rett_syndrome'] | ACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGAT | ACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGA | pathogenic | 341,134 |
Evaluate if the mutation on chromosome X at position 154030630 in MECP2 (methyl-CpG binding protein 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | ACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGAT | ACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 341,135 |
The chromosome X, position 154030630 genetic variant in gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Autism,_susceptibility_to,_X-linked_3', 'Rett_syndrome', 'Rett_syndrome,_zappella_variant', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome'] | ACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGAT | ACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 341,136 |
A mutation at chromosome position 154030632 on chromosome X in gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCT | CCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 341,139 |
Does the chromosome X mutation at position 154030637 within gene MECP2 (methyl-CpG binding protein 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | TACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATG | TACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 341,142 |
Assess the variant on chromosome X, position 154030639, impacting MECP2 (methyl-CpG binding protein 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTC | CTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 341,144 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 154030639, gene MECP2 (methyl-CpG binding protein 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Rett_syndrome'] | CTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTC | CTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 341,145 |
Variant chromosome X, position 154030639, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Disease(s)? | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTC | CTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 341,146 |
Determine whether the variant at chromosome X, position 154030639, in gene MECP2 (methyl-CpG binding protein 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTC | CTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 341,147 |
Is the chromosome X, position 154030642 variant in MECP2 (methyl-CpG binding protein 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Rett_syndrome'] | GTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTT | GTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTNNNNNNNN | pathogenic | 341,149 |
Clinical classification of chromosome X, position 154030642, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Rett_syndrome'] | GTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTT | GTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGTGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 341,150 |
Is the chromosome X, position 154030648 variant in MECP2 (methyl-CpG binding protein 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Rett_syndrome'] | GCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAG | GCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGNNNNNNNNNNNNNNNNN | pathogenic | 341,152 |
Considering the variant on chromosome X, location 154030648, involving gene MECP2 (methyl-CpG binding protein 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | GCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAG | GCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGNNNNNNNNNNNNNNNNNN | benign | 341,153 |
Is the chromosome X, position 154030653 variant in MECP2 (methyl-CpG binding protein 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | GGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAA | GGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAANNNNNNNNNNNNNNNN | pathogenic | 341,157 |
Variant on chromosome X, at position 154030654, affecting MECP2 (methyl-CpG binding protein 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAAC | GTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACNNNNNN | benign | 341,158 |
A genetic variant at chromosome X, position 154030655, affecting gene MECP2 (methyl-CpG binding protein 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Neurodevelopmental_delay', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | TCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACA | TCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACANNNNNNNNNNN | pathogenic | 341,159 |
The mutation in gene MECP2 (methyl-CpG binding protein 2) at chromosome X, position 154030655—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACA | TCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACANNNNNNNNNNNNNNNNNN | benign | 341,160 |
Is the variant located on chromosome X at position 154030656, gene MECP2 (methyl-CpG binding protein 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAG | CTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGNNNNNNNNNNNNNNNNNNNN | pathogenic | 341,161 |
Does the variant on chromosome X at location 154030661 affecting gene MECP2 (methyl-CpG binding protein 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACT | GAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTNNNNNN | benign | 341,164 |
Determine if the mutation at chromosome X, position 154030661 in gene MECP2 (methyl-CpG binding protein 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Rett_syndrome'] | GAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACT | GAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTNNNNNNN | pathogenic | 341,165 |
Variant at chromosome X, position 154030661, gene MECP2 (methyl-CpG binding protein 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACT | GAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTNNNNNNNNNNNN | benign | 341,166 |
The mutation impacting MECP2 (methyl-CpG binding protein 2) on chromosome X at position 154030664: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases', 'Rett_syndrome'] | TTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGG | TTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCG | pathogenic | 341,168 |
Considering the variant on chromosome X, location 154030664, involving gene MECP2 (methyl-CpG binding protein 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Severe_neonatal-onset_encephalopathy_with_microcephaly'] | TTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGG | TTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGN | pathogenic | 341,169 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 154030664, gene MECP2 (methyl-CpG binding protein 2): what disease(s) if pathogenic? | benign | TTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGG | TTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGNNN | benign | 341,170 |
Regarding the variant found on chromosome X at position 154030664 in gene MECP2 (methyl-CpG binding protein 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Intellectual_disability', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | TTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGG | TTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 341,171 |
Chromosome X, position 154030665, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome'] | TCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGG | TCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTTAGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGG | pathogenic | 341,173 |
Is the genetic mutation found on chromosome X at position 154030665, within the gene MECP2 (methyl-CpG binding protein 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGG | TCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGNNNNNN | benign | 341,174 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 154030671, gene MECP2 (methyl-CpG binding protein 2): what disease(s) if pathogenic? | pathogenic; ['Developmental_disorder', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | TTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGC | TTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAG | pathogenic | 341,180 |
Variant at chromosome position 154030672, chromosome X, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Inborn_genetic_diseases', 'Rett_syndrome'] | TGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCT | TGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTNNNN | pathogenic | 341,181 |
Is the genetic change at chromosome X, position 154030680, within gene MECP2 (methyl-CpG binding protein 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Neurodevelopmental_delay', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCA | CTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCANNNNNNNNNNNNNN | pathogenic | 341,186 |
Gene MECP2 (methyl-CpG binding protein 2) variant at chromosome position 154030685 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Syndromic_X-linked_intellectual_disability_Lubs_type'] | GCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATAT | GCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATNNNNN | pathogenic | 341,188 |
Chromosome X, position 154030685, gene MECP2 (methyl-CpG binding protein 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Intellectual_disability', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome'] | GCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATAT | GCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATNNNNNNNN | pathogenic | 341,189 |
For chromosome X, position 154030690, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome'] | GCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTT | GCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCT | pathogenic | 341,192 |
Variant at chromosome X, position 154030690, gene MECP2 (methyl-CpG binding protein 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome'] | GCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTT | GCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTN | pathogenic | 341,194 |
Mutation at chromosome X, position 154030710, within MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGT | GGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTTGGGGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGT | benign | 341,206 |
A mutation at chromosome position 154030721 on chromosome X in gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCG | TGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGNNNNNN | benign | 341,208 |
The chromosome X, position 154030741 genetic variant in gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Seizure', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome'] | ATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGT | ATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTG | pathogenic | 341,211 |
Determine whether the variant at chromosome X, position 154030741, in gene MECP2 (methyl-CpG binding protein 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Severe_neonatal-onset_encephalopathy_with_microcephaly'] | ATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGT | ATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTN | pathogenic | 341,212 |
Considering the variant on chromosome X, location 154030765, involving gene MECP2 (methyl-CpG binding protein 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Neurodevelopmental_delay', 'Rett_syndrome'] | ATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCAC | ATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACNN | pathogenic | 341,220 |
Clinical significance of chromosome X, position 154030798, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Rett_syndrome'] | TCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGG | TCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGN | pathogenic | 341,227 |
Subsets and Splits
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