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
|
---|---|---|---|---|---|
Is the genetic variant on chromosome X, position 154030832, gene MECP2 (methyl-CpG binding protein 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Severe_neonatal-onset_encephalopathy_with_microcephaly'] | TCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCA | TCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCANN | pathogenic | 341,230 |
Is the genetic mutation found on chromosome X at position 154030921, within the gene MECP2 (methyl-CpG binding protein 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['MECP2-related_disorder', 'Rett_syndrome'] | CCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCT | CCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTN | pathogenic | 341,252 |
Does the variant impacting MECP2 (methyl-CpG binding protein 2) on chromosome X, position 154030968, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Inborn_genetic_diseases', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGG | CAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGNNNN | pathogenic | 341,269 |
Considering the genetic mutation at chromosome X, position 154030987, impacting MECP2 (methyl-CpG binding protein 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTA | CCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTAN | pathogenic | 341,274 |
For chromosome X, position 154031008, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Rett_syndrome'] | AAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACA | AAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACAN | pathogenic | 341,280 |
Variant in gene MECP2 (methyl-CpG binding protein 2), located at chromosome X position 154031019: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autism,_susceptibility_to,_X-linked_3', 'MECP2-related_disorder', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'Syndromic_X-linked_intellectual_disability_Lubs_type', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome'] | GGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAG | GGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGN | pathogenic | 341,285 |
Is the genetic variant on chromosome X, position 154031021, gene MECP2 (methyl-CpG binding protein 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autism,_susceptibility_to,_X-linked_3', 'Inborn_genetic_diseases', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'Syndromic_X-linked_intellectual_disability_Lubs_type', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome', 'likely other unspecified diseases'] | GCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCC | GCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCN | pathogenic | 341,287 |
Variant chromosome X, position 154031068, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Disease(s)? | pathogenic; ['Rett_syndrome'] | CTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCA | CTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCANNNN | pathogenic | 341,293 |
Determine if the mutation at chromosome X, position 154031072 in gene MECP2 (methyl-CpG binding protein 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Rett_syndrome'] | AGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAA | AGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAN | pathogenic | 341,294 |
Is the chromosome X, position 154031074 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'] | CCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAAT | CCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAA | pathogenic | 341,295 |
Is chromosome X, position 154031074, gene MECP2 (methyl-CpG binding protein 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Rett_syndrome'] | CCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAAT | CCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAA | pathogenic | 341,296 |
Gene MECP2 (methyl-CpG binding protein 2) variant at chromosome X, position 154031074—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['MECP2-related_disorder', 'Rett_syndrome', 'Seizure', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAAT | CCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATN | pathogenic | 341,297 |
A genetic variant at chromosome X, position 154031075, affecting gene MECP2 (methyl-CpG binding protein 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATG | CGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCA | pathogenic | 341,299 |
For chromosome X, position 154031085, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Rett_syndrome'] | GGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCAT | GGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGCACGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATNNNNN | pathogenic | 341,305 |
A mutation at chromosome position 154031112 on chromosome X in gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Inborn_genetic_diseases', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | GAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGAC | GAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACNNNNNNNN | pathogenic | 341,312 |
Classify the chromosome X variant at position 154031117 affecting gene MECP2 (methyl-CpG binding protein 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Autism,_susceptibility_to,_X-linked_3', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | GATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAG | GATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACA | pathogenic | 341,314 |
Does the chromosome X mutation at position 154031117 within gene MECP2 (methyl-CpG binding protein 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Inborn_genetic_diseases', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'likely other unspecified diseases'] | GATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAG | GATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGN | pathogenic | 341,315 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 154031131, gene MECP2 (methyl-CpG binding protein 2): what disease(s) if pathogenic? | pathogenic; ['Autism,_susceptibility_to,_X-linked_3', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | GAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAG | GAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGN | pathogenic | 341,318 |
Benign or pathogenic: chromosome X, position 154031132, gene MECP2 (methyl-CpG binding protein 2) variant? Disease(s) if pathogenic? | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | AGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGG | AGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAG | pathogenic | 341,319 |
Variant at chromosome X, position 154031132, 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'] | AGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGG | AGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGN | pathogenic | 341,320 |
Regarding the variant found on chromosome X at position 154031137 in gene MECP2 (methyl-CpG binding protein 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | GATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCC | GATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCN | pathogenic | 341,323 |
Does the variant impacting MECP2 (methyl-CpG binding protein 2) on chromosome X, position 154031174, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCA | CAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCANNNNNNNNNNNNN | pathogenic | 341,335 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 154031346, gene MECP2 (methyl-CpG binding protein 2): what disease(s) if pathogenic? | pathogenic; ['Rett_syndrome'] | TGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGG | TGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGNN | pathogenic | 341,373 |
Evaluate this variant at chromosome X, position 154031466, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | AATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCC | AATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCN | benign | 341,413 |
The mutation in gene MECP2 (methyl-CpG binding protein 2) at chromosome X, position 154032197—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTG | GGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGNNNN | benign | 341,423 |
Variant on chromosome X, at position 154032288, affecting MECP2 (methyl-CpG binding protein 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | 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'] | GAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTA | GAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTT | pathogenic | 341,439 |
Variant in gene MECP2 (methyl-CpG binding protein 2), located at chromosome X position 154032308: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Rett_syndrome'] | TTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCG | TTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGN | pathogenic | 341,442 |
Is the genetic mutation found on chromosome X at position 154032382, within the gene MECP2 (methyl-CpG binding protein 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | GTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCAC | GTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACN | pathogenic | 341,451 |
The chromosome X, position 154032393 genetic variant in gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | TTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCA | TTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCANN | pathogenic | 341,453 |
The genetic variant at chromosome X, position 154032470, affecting gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | GGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCGACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC | GGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCGACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCNNNNNNN | pathogenic | 341,461 |
Gene MECP2 (methyl-CpG binding protein 2) variant at chromosome position 154032472 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Angelman_syndrome', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome'] | CCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCGACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC | CCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCGACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACNNNN | pathogenic | 341,462 |
Benign or pathogenic: chromosome X, position 154032480, gene MECP2 (methyl-CpG binding protein 2) variant? Disease(s) if pathogenic? | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | TGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCGACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCA | TGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCGACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCANNNN | pathogenic | 341,463 |
Determine if the mutation at chromosome X, position 154032507 in gene MECP2 (methyl-CpG binding protein 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Rett_syndrome', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome'] | CTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCGACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAGAGCTTCCTTTTCATGTCTCTGA | CTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCGACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAGAGCTTCCTTTTCATGTCTCTGAN | pathogenic | 341,464 |
Evaluate this variant at chromosome X, position 154032527, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Rett_syndrome'] | TACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCGACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAGAGCTTCCTTTTCATGTCTCTGAGTCTTACAGCTCTCAATGGG | TACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCGACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAGAGCTTCCTTTTCATGTCTCTGAGTCTTACAGCTCTCAATGG | pathogenic | 341,467 |
Assess the variant on chromosome X, position 154097600, impacting MECP2 (methyl-CpG binding protein 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['MECP2-related_disorder', 'Rett_syndrome'] | GTCTCAAGCTCAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGA | GTCTCAAGCTCAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGANN | pathogenic | 341,476 |
Regarding the variant at chromosome X and position 154097608, affecting gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Inborn_genetic_diseases', 'Rett_syndrome'] | CTCAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGAT | CTCAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTG | pathogenic | 341,479 |
Is the genetic mutation found on chromosome X at position 154097608, within the gene MECP2 (methyl-CpG binding protein 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CTCAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGAT | CTCAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAA | pathogenic | 341,480 |
Regarding the variant at chromosome X and position 154097608, affecting gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CTCAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGAT | CTCAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATNNNNNNNNNNN | pathogenic | 341,481 |
The chromosome X, position 154097610 genetic variant in gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Rett_syndrome'] | CAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATAT | CAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATNNNNNNNN | pathogenic | 341,482 |
Classify the chromosome X variant at position 154097618 affecting gene MECP2 (methyl-CpG binding protein 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAG | CAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTT | benign | 341,485 |
Variant at chromosome position 154097618, chromosome X, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAG | CAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGT | benign | 341,486 |
The genetic variant at chromosome X, position 154097618, affecting gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Disease name(s) if pathogenic? | benign | CAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAG | CAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGNNN | benign | 341,487 |
Does the variant on chromosome X at location 154097642 affecting gene MECP2 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGAACTGAACAAAAGGATTGGATGTA | GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGAACTGAACAAAAGGATTGGAT | benign | 341,488 |
The genetic variant at chromosome X, position 154097642, affecting gene MECP2: benign or pathogenic? Disease name(s) if pathogenic? | benign | GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGAACTGAACAAAAGGATTGGATGTA | GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGAACTGAACAAAAGGATTG | benign | 341,489 |
Considering the variant on chromosome X, location 154097642, involving gene MECP2, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGAACTGAACAAAAGGATTGGATGTA | GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGAACTGAACAAAAGGA | benign | 341,490 |
Clinical significance of chromosome X, position 154097642, gene MECP2: benign or pathogenic? Name the disease(s) if pathogenic. | benign | GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGAACTGAACAAAAGGATTGGATGTA | GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGAACTGAACAAAAGGATTGGATGTANNN | benign | 341,491 |
Mutation found at chromosome X position 154097642, gene MECP2: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGAACTGAACAAAAGGATTGGATGTA | GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGAACTGAACAAAAGGATTGGATGTANNNNNN | benign | 341,492 |
Variant at chromosome X, position 154097642, gene MECP2: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGAACTGAACAAAAGGATTGGATGTA | GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGAACTGAACAAAAGGATTGGATGTANNNNNNNNN | benign | 341,493 |
Variant on chromosome X, at position 154097690, affecting MECP2: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGAACTGAACAAAAGGATTGGATGTAGGGCATAGAGCAAGGGAAGAAACAAGGATGATTCCTGAGATTGGGGCC | CTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGAACTGAACAAAAGGATTGGATGTAGGGCATAGAGCAAGGGAAGAAACAAGGATGATTCCTGAGATTGGGGCCNN | benign | 341,498 |
Chromosome X, position 154348850, gene FLNA: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Frontometaphyseal_dysplasia', 'Heterotopia,_periventricular,_X-linked_dominant', 'Melnick-Needles_syndrome', 'Oto-palato-digital_syndrome,_type_II'] | CCGGTGCCCTTGGTTCACCTAGCCCAGCCCTAGGGCGGTGGCCCTGCCAGGCATGGGGCTTGAGAGGGGATGTGATGGAGCAGACACAGGGAGGGGGCAGGAGACCCTGGGTGACTCGGGACAGGAGGGAGTGCCCCAGAGGTTCAGAATCCTGGGCACACAGTGGGCTGAGCGGACAAGTCGCAGCCTCAGGGGGACCTCCCGTCCTCCCAACTGGCACTGCATCTTTCTGGGCCTGGCTCTGCTGCCTCACAGCCCCGTTCAGCTGGTGGCTTTTAGAGGCTTCCAGAGTGTGCTTGGCCCCTTTACCTCTATGCCATTGGGCCCAGGGGGAGCAGTAGAGTGGCTGCGGCTGGGGGTGGGACTTCCCCTTTCTGTGTCTTGCTTGCCCCGTGTCTCCCAGTGAGTGGCCGCCCTGAGCCTGGGGCCAGCAGCCCAGCCCCAGTGAGAAATAAAAGTAGCCATCCTGCCTGAACTGCCGCTGCCTTTTCTACTTTGCCCTCTCAACAGGGGTCAAGGAGGGTACGCGTGGTGTTGAGGTCTCAGAAGGTCTGGGTTTGACGTGTGCCATGGCTGCAGGCTACGGCCTGGTCGTGTCAGACGCTGTGGAGCTGAGGGAGGATGTGGCGAGAAAGCTGAGCGTTGCCCCCGAGAGCCTTGCTTCCTGGCCCTTGTCTGCAGATGTCTGAGGTGGTGGTGTCCTTGTCAGGGGTTTGATCGAGGGCCAAAGCCTTTGGCCCAGGGAGCAGGCAGCTTTGGGTGCTGCAGTTGGGATGTCCCGATAGCATGCAGGCAGCACCAGGAGCCAGGACGACTTGGGATGTTATGTGTTTGGGGGCAATCTTTACAGTGGGAGACACATAGGTTGGTGTGGGAATCCACGGCAGGGGTACCAATGAGGGGATATTCAGCAGGGGGCCCAGGGTACCTGGGATTGGCACCTTGAATGCATCCACCTCCTGCCACCTGTTAACTAAAGGGCCCTGAGGCCCAGAGCCTGGGGGAGGGGGCCTCATCCCAGTCCCTTGTTTGGGGGAATGGTGGCATGGTGGCATGTTCAAGTTACCTGGCAGATGGCCAGGGCCTGCTGTGATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGGGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGTCTCCTGGGTTCGCACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCGGGCCTGCTGTTGATTATCTGGCCACCTCCACCAGGGAGCCTTCCTGACACCACCCTACCCAGTAATGGGCTCTCCTGCCCAGCTCTTTGCCTCCTTGCTGCCTGGGCTCCATTCCAGGTTGCTACATGTTCCTCTCCTTACGTTGGCTTGAACTCAGGGAGGCAGAGGAAGCAAAGATAGATGGTGCCTTCTGGAGTCAGGGTGGGGTGAAGCAGGAGCCCTGGAGGGAGGTGACCTGTGCTCAGCCCATGCTTTGATCTGCTCATTGGCACCCCTGTCAGGTTGGCCTTGACTGGTCCCCCAACCCCAACAAAGCTACAGCCACGCAAAGGAGAATGGAAGCAAAACTTTATTCCTCTTGGCTGGAGAAGAGAACTAGTGGGTGGTTGTGTACAGGACCCCCATCCCTCACCCCTCCCAGAACCAAAGAAGACAAGCAGCGCCACCAAATGGCTCCCTCTGCCCAAGTGAAAGCCGAGAGGTCAGCGGCTGGCTGGGGAGGCAGGTGAGCGCAGCACGGCACAGGGCAGGGGCGGCTGCAGTGACAGGCGGGCGGCCAGGGCGGCCTGGGCCGGGGTTGAGGGGAAGAGGGCGGGGCTGCTTGGGTAGCGGGGCAGGCTTGGGGGCTGCCGGCTGGCACGGGCCCCAGACTCAGGGCACCACAACGCGGTAGGGGCTGCCTGGGATGTGCTCGTCCCCCCATTTGACCACCAGTGTGTACTCCCCCTTGTCCTTGAGCAGGTAGGACACGCTGTAGAGCCGGCTGCCCACGTGCTTCACCAGGATCTCCTCGCAGGGGGTCCTTGGGCCATGAACCCCCACCAGCAGCATGTTGTTGCCTGAGGCAAGAGGGGTCCTCAGTCCCAGGTCCCAGCCCCCTTCCTCCCGCTGGTGTCCTGCTCTCCTCTCCTGTCCCTAAGCCAGTTCTGGGGTGACAGTTCTCTCTTCCTAAAGAGCTGCCAGCACCTCCCCAACCCAGGCCAGCTTAGCAGATTCCAGCTCCTCCCTGGTCTTTGTTTGAGGGGTCCAGGAGGTGGCAGGGAGGTGGCTCTAGAAGTGAAAGCCACGCCCCAAAGGCGGTCCCTGCTCTCCCAGACACTGGCCATCCTGTGATTTCTGGCCTCATTTTGGTGGGAAGGTGGGCCGGGGGCCCAGGTTGCCCACCTGCTTTGCTGCAGTCTACTGTGAAGCTGCTCTTCTGGCCTACGTAGGCCTTGCTCAGCCCCAGGCCCTTGGCCACCACCTTGCTGGCGTCAGCAGGCCCAGGACCCGGGGCCCCATGCTGGGGGGCACAGGTGGCCTTGGTCAGAGAGTCTACAAACACTGATGATGTCTCGTGGAGGCTGTGGTTGCTGACGAGACGGGGGCCTGCAAGGCAGAGTGGGTGGGGCTAAGAGGTGGCTGTGGTGCCGGGCGTTGGGCAGATGCCAATAGCTTGGCCCCAGGCTCACCTGTGACTTTGGCCTTGAAGGGGCTGCCCCCAATGTGGTAGGGGCCGCCGTACTTGATGGAGATGAGGTAGCTGCCAGGTGCCATGGGGGTATAGGTGACGCGGTAGCCCTCAGGGCACTCCTGGCAATCCATCTTCACCTTGGAGGGGCCGTCAATGGTCACCGACAGGGCACCAGCTCCCGCATTGCTCGTGTTCACGACGAACTCAGCTGGGTTCCCTGGGAGCACAGGAGGTCAGGCAGAGCCAGACTGGCCTGCCTCCCTGTCCTCGGCCACCCAGCACAGGCTTGTCACCTCCAGGTGCCTCCTGTTGTCACCAAGAGCTTGGAGGCAAGGGCCTAGCAGCTGTGTGCACACGTGCAGCCGCACCGACAGACTTACCTGTGACACCGCCTTCCAGACCTGCTCCGTAAGCAGACACCAAGCCTGGGTCCCCTCCATGCCCAGGCTCCCCAACTCGGATCTTGAAGGGGCTTCCAGGGATGTGGGTGCCGTTGAACTTGACGTCAATCAGGTAAACGCCATTCTCCCGAGGGATGAAGCGCACAGCATACTTATCTGAGGAGCAGGGAGTCATGCTGTGGGCCTGGGGCCCCTCCTCAAACCAGCAGATGGTGTCTGTGAGGAACAGCCTCAACCCTGGCCCTCCCCATTTTGCCGGTCCATCAGTGTGAGCCCAGCCACGCTGGGCACCTGCACCCCGCAGCAGACCTCCTGAGGGCCGAAGGTTTAGACACTCAAGCTGCCCACCGTCAGGGTGCATTGGGACGGAAATCTTTTACAAGCCAAACCCAGGCCTTGCTGCCTCCTAAGAAAGGTTACCGTGAACACCATATCCCCTGCATGTTAACAGGCTCAGAGACGGGCAGGAACTTGCTTCAGGTCATGCAGCTGGGAAGGGCAGGACTAGGCCGTGAAATGAAGCCCACTGGGCTCCTCCTACCCACAAGGCTGCCCCAGGCCTGTGCACAAGTACCATGGCCGTGGCTGAAGGGCCGGGCAGCACTGAGGCTGGACTTTGAGTCTTTCCCTGTGGAGATGGCATGGTACTGCAGGGTAGAAGGCCTTCCTAATAGCTGTGGGTGGCGAGCCACATCCCCAGCGGCTTGGGTCACCAATTGGGAAAGGGTTGCCTGGCTTAGGGGGCCCAGGAGTTGGGGCCCCGTCTTGGCTGCTTACAGAAGCGGTACCTTCCTTTTGTACTCTCAGCCTGCTTCCAGCCAGCAGGGCAGGGCGGCCGGGCAGGGA | CCGGTGCCCTTGGTTCACCTAGCCCAGCCCTAGGGCGGTGGCCCTGCCAGGCATGGGGCTTGAGAGGGGATGTGATGGAGCAGACACAGGGAGGGGGCAGGAGACCCTGGGTGACTCGGGACAGGAGGGAGTGCCCCAGAGGTTCAGAATCCTGGGCACACAGTGGGCTGAGCGGACAAGTCGCAGCCTCAGGGGGACCTCCCGTCCTCCCAACTGGCACTGCATCTTTCTGGGCCTGGCTCTGCTGCCTCACAGCCCCGTTCAGCTGGTGGCTTTTAGAGGCTTCCAGAGTGTGCTTGGCCCCTTTACCTCTATGCCATTGGGCCCAGGGGGAGCAGTAGAGTGGCTGCGGCTGGGGGTGGGACTTCCCCTTTCTGTGTCTTGCTTGCCCCGTGTCTCCCAGTGAGTGGCCGCCCTGAGCCTGGGGCCAGCAGCCCAGCCCCAGTGAGAAATAAAAGTAGCCATCCTGCCTGAACTGCCGCTGCCTTTTCTACTTTGCCCTCTCAACAGGGGTCAAGGAGGGTACGCGTGGTGTTGAGGTCTCAGAAGGTCTGGGTTTGACGTGTGCCATGGCTGCAGGCTACGGCCTGGTCGTGTCAGACGCTGTGGAGCTGAGGGAGGATGTGGCGAGAAAGCTGAGCGTTGCCCCCGAGAGCCTTGCTTCCTGGCCCTTGTCTGCAGATGTCTGAGGTGGTGGTGTCCTTGTCAGGGGTTTGATCGAGGGCCAAAGCCTTTGGCCCAGGGAGCAGGCAGCTTTGGGTGCTGCAGTTGGGATGTCCCGATAGCATGCAGGCAGCACCAGGAGCCAGGACGACTTGGGATGTTATGTGTTTGGGGGCAATCTTTACAGTGGGAGACACATAGGTTGGTGTGGGAATCCACGGCAGGGGTACCAATGAGGGGATATTCAGCAGGGGGCCCAGGGTACCTGGGATTGGCACCTTGAATGCATCCACCTCCTGCCACCTGTTAACTAAAGGGCCCTGAGGCCCAGAGCCTGGGGGAGGGGGCCTCATCCCAGTCCCTTGTTTGGGGGAATGGTGGCATGGTGGCATGTTCAAGTTACCTGGCAGATGGCCAGGGCCTGCTGTGATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGGGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGTCTCCTGGGTTCGCACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCGGGCCTGCTGTTGATTATCTGGCCACCTCCACCAGGGAGCCTTCCTGACACCACCCTACCCAGTAATGGGCTCTCCTGCCCAGCTCTTTGCCTCCTTGCTGCCTGGGCTCCATTCCAGGTTGCTACATGTTCCTCTCCTTACGTTGGCTTGAACTCAGGGAGGCAGAGGAAGCAAAGATAGATGGTGCCTTCTGGAGTCAGGGTGGGGTGAAGCAGGAGCCCTGGAGGGAGGTGACCTGTGCTCAGCCCATGCTTTGATCTGCTCATTGGCACCCCTGTCAGGTTGGCCTTGACTGGTCCCCCAACCCCAACAAAGCTACAGCCACGCAAAGGAGAATGGAAGCAAAACTTTATTCCTCTTGGCTGGAGAAGAGAACTAGTGGGTGGTTGTGTACAGGACCCCCATCCCTCACCCCTCCCAGAACCAAAGAAGACAAGCAGCGCCACCAAATGGCTCCCTCTGCCCAAGTGAAAGCCGAGAGGTCAGCGGCTGGCTGGGGAGGCAGGTGAGCGCAGCACGGCACAGGGCAGGGGCGGCTGCAGTGACAGGCGGGCGGCCAGGGCGGCCTGGGCCGGGGTTGAGGGGAAGAGGGCGGGGCTGCTTGGGTAGCGGGGCAGGCTTGGGGGCTGCCGGCTGGCACGGGCCCCAGACTCGGCACCACAACGCGGTAGGGGCTGCCTGGGATGTGCTCGTCCCCCCATTTGACCACCAGTGTGTACTCCCCCTTGTCCTTGAGCAGGTAGGACACGCTGTAGAGCCGGCTGCCCACGTGCTTCACCAGGATCTCCTCGCAGGGGGTCCTTGGGCCATGAACCCCCACCAGCAGCATGTTGTTGCCTGAGGCAAGAGGGGTCCTCAGTCCCAGGTCCCAGCCCCCTTCCTCCCGCTGGTGTCCTGCTCTCCTCTCCTGTCCCTAAGCCAGTTCTGGGGTGACAGTTCTCTCTTCCTAAAGAGCTGCCAGCACCTCCCCAACCCAGGCCAGCTTAGCAGATTCCAGCTCCTCCCTGGTCTTTGTTTGAGGGGTCCAGGAGGTGGCAGGGAGGTGGCTCTAGAAGTGAAAGCCACGCCCCAAAGGCGGTCCCTGCTCTCCCAGACACTGGCCATCCTGTGATTTCTGGCCTCATTTTGGTGGGAAGGTGGGCCGGGGGCCCAGGTTGCCCACCTGCTTTGCTGCAGTCTACTGTGAAGCTGCTCTTCTGGCCTACGTAGGCCTTGCTCAGCCCCAGGCCCTTGGCCACCACCTTGCTGGCGTCAGCAGGCCCAGGACCCGGGGCCCCATGCTGGGGGGCACAGGTGGCCTTGGTCAGAGAGTCTACAAACACTGATGATGTCTCGTGGAGGCTGTGGTTGCTGACGAGACGGGGGCCTGCAAGGCAGAGTGGGTGGGGCTAAGAGGTGGCTGTGGTGCCGGGCGTTGGGCAGATGCCAATAGCTTGGCCCCAGGCTCACCTGTGACTTTGGCCTTGAAGGGGCTGCCCCCAATGTGGTAGGGGCCGCCGTACTTGATGGAGATGAGGTAGCTGCCAGGTGCCATGGGGGTATAGGTGACGCGGTAGCCCTCAGGGCACTCCTGGCAATCCATCTTCACCTTGGAGGGGCCGTCAATGGTCACCGACAGGGCACCAGCTCCCGCATTGCTCGTGTTCACGACGAACTCAGCTGGGTTCCCTGGGAGCACAGGAGGTCAGGCAGAGCCAGACTGGCCTGCCTCCCTGTCCTCGGCCACCCAGCACAGGCTTGTCACCTCCAGGTGCCTCCTGTTGTCACCAAGAGCTTGGAGGCAAGGGCCTAGCAGCTGTGTGCACACGTGCAGCCGCACCGACAGACTTACCTGTGACACCGCCTTCCAGACCTGCTCCGTAAGCAGACACCAAGCCTGGGTCCCCTCCATGCCCAGGCTCCCCAACTCGGATCTTGAAGGGGCTTCCAGGGATGTGGGTGCCGTTGAACTTGACGTCAATCAGGTAAACGCCATTCTCCCGAGGGATGAAGCGCACAGCATACTTATCTGAGGAGCAGGGAGTCATGCTGTGGGCCTGGGGCCCCTCCTCAAACCAGCAGATGGTGTCTGTGAGGAACAGCCTCAACCCTGGCCCTCCCCATTTTGCCGGTCCATCAGTGTGAGCCCAGCCACGCTGGGCACCTGCACCCCGCAGCAGACCTCCTGAGGGCCGAAGGTTTAGACACTCAAGCTGCCCACCGTCAGGGTGCATTGGGACGGAAATCTTTTACAAGCCAAACCCAGGCCTTGCTGCCTCCTAAGAAAGGTTACCGTGAACACCATATCCCCTGCATGTTAACAGGCTCAGAGACGGGCAGGAACTTGCTTCAGGTCATGCAGCTGGGAAGGGCAGGACTAGGCCGTGAAATGAAGCCCACTGGGCTCCTCCTACCCACAAGGCTGCCCCAGGCCTGTGCACAAGTACCATGGCCGTGGCTGAAGGGCCGGGCAGCACTGAGGCTGGACTTTGAGTCTTTCCCTGTGGAGATGGCATGGTACTGCAGGGTAGAAGGCCTTCCTAATAGCTGTGGGTGGCGAGCCACATCCCCAGCGGCTTGGGTCACCAATTGGGAAAGGGTTGCCTGGCTTAGGGGGCCCAGGAGTTGGGGCCCCGTCTTGGCTGCTTACAGAAGCGGTACCTTCCTTTTGTACTCTCAGCCTGCTTCCAGCCAGCAGGGCAGGGCGGCCGGGCAGGGANN | pathogenic | 341,508 |
Clinical significance of chromosome X, position 154349013, gene FLNA: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Frontometaphyseal_dysplasia', 'Heterotopia,_periventricular,_X-linked_dominant', 'Melnick-Needles_syndrome', 'Oto-palato-digital_syndrome,_type_II'] | TGGGCTGAGCGGACAAGTCGCAGCCTCAGGGGGACCTCCCGTCCTCCCAACTGGCACTGCATCTTTCTGGGCCTGGCTCTGCTGCCTCACAGCCCCGTTCAGCTGGTGGCTTTTAGAGGCTTCCAGAGTGTGCTTGGCCCCTTTACCTCTATGCCATTGGGCCCAGGGGGAGCAGTAGAGTGGCTGCGGCTGGGGGTGGGACTTCCCCTTTCTGTGTCTTGCTTGCCCCGTGTCTCCCAGTGAGTGGCCGCCCTGAGCCTGGGGCCAGCAGCCCAGCCCCAGTGAGAAATAAAAGTAGCCATCCTGCCTGAACTGCCGCTGCCTTTTCTACTTTGCCCTCTCAACAGGGGTCAAGGAGGGTACGCGTGGTGTTGAGGTCTCAGAAGGTCTGGGTTTGACGTGTGCCATGGCTGCAGGCTACGGCCTGGTCGTGTCAGACGCTGTGGAGCTGAGGGAGGATGTGGCGAGAAAGCTGAGCGTTGCCCCCGAGAGCCTTGCTTCCTGGCCCTTGTCTGCAGATGTCTGAGGTGGTGGTGTCCTTGTCAGGGGTTTGATCGAGGGCCAAAGCCTTTGGCCCAGGGAGCAGGCAGCTTTGGGTGCTGCAGTTGGGATGTCCCGATAGCATGCAGGCAGCACCAGGAGCCAGGACGACTTGGGATGTTATGTGTTTGGGGGCAATCTTTACAGTGGGAGACACATAGGTTGGTGTGGGAATCCACGGCAGGGGTACCAATGAGGGGATATTCAGCAGGGGGCCCAGGGTACCTGGGATTGGCACCTTGAATGCATCCACCTCCTGCCACCTGTTAACTAAAGGGCCCTGAGGCCCAGAGCCTGGGGGAGGGGGCCTCATCCCAGTCCCTTGTTTGGGGGAATGGTGGCATGGTGGCATGTTCAAGTTACCTGGCAGATGGCCAGGGCCTGCTGTGATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGGGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGTCTCCTGGGTTCGCACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCGGGCCTGCTGTTGATTATCTGGCCACCTCCACCAGGGAGCCTTCCTGACACCACCCTACCCAGTAATGGGCTCTCCTGCCCAGCTCTTTGCCTCCTTGCTGCCTGGGCTCCATTCCAGGTTGCTACATGTTCCTCTCCTTACGTTGGCTTGAACTCAGGGAGGCAGAGGAAGCAAAGATAGATGGTGCCTTCTGGAGTCAGGGTGGGGTGAAGCAGGAGCCCTGGAGGGAGGTGACCTGTGCTCAGCCCATGCTTTGATCTGCTCATTGGCACCCCTGTCAGGTTGGCCTTGACTGGTCCCCCAACCCCAACAAAGCTACAGCCACGCAAAGGAGAATGGAAGCAAAACTTTATTCCTCTTGGCTGGAGAAGAGAACTAGTGGGTGGTTGTGTACAGGACCCCCATCCCTCACCCCTCCCAGAACCAAAGAAGACAAGCAGCGCCACCAAATGGCTCCCTCTGCCCAAGTGAAAGCCGAGAGGTCAGCGGCTGGCTGGGGAGGCAGGTGAGCGCAGCACGGCACAGGGCAGGGGCGGCTGCAGTGACAGGCGGGCGGCCAGGGCGGCCTGGGCCGGGGTTGAGGGGAAGAGGGCGGGGCTGCTTGGGTAGCGGGGCAGGCTTGGGGGCTGCCGGCTGGCACGGGCCCCAGACTCAGGGCACCACAACGCGGTAGGGGCTGCCTGGGATGTGCTCGTCCCCCCATTTGACCACCAGTGTGTACTCCCCCTTGTCCTTGAGCAGGTAGGACACGCTGTAGAGCCGGCTGCCCACGTGCTTCACCAGGATCTCCTCGCAGGGGGTCCTTGGGCCATGAACCCCCACCAGCAGCATGTTGTTGCCTGAGGCAAGAGGGGTCCTCAGTCCCAGGTCCCAGCCCCCTTCCTCCCGCTGGTGTCCTGCTCTCCTCTCCTGTCCCTAAGCCAGTTCTGGGGTGACAGTTCTCTCTTCCTAAAGAGCTGCCAGCACCTCCCCAACCCAGGCCAGCTTAGCAGATTCCAGCTCCTCCCTGGTCTTTGTTTGAGGGGTCCAGGAGGTGGCAGGGAGGTGGCTCTAGAAGTGAAAGCCACGCCCCAAAGGCGGTCCCTGCTCTCCCAGACACTGGCCATCCTGTGATTTCTGGCCTCATTTTGGTGGGAAGGTGGGCCGGGGGCCCAGGTTGCCCACCTGCTTTGCTGCAGTCTACTGTGAAGCTGCTCTTCTGGCCTACGTAGGCCTTGCTCAGCCCCAGGCCCTTGGCCACCACCTTGCTGGCGTCAGCAGGCCCAGGACCCGGGGCCCCATGCTGGGGGGCACAGGTGGCCTTGGTCAGAGAGTCTACAAACACTGATGATGTCTCGTGGAGGCTGTGGTTGCTGACGAGACGGGGGCCTGCAAGGCAGAGTGGGTGGGGCTAAGAGGTGGCTGTGGTGCCGGGCGTTGGGCAGATGCCAATAGCTTGGCCCCAGGCTCACCTGTGACTTTGGCCTTGAAGGGGCTGCCCCCAATGTGGTAGGGGCCGCCGTACTTGATGGAGATGAGGTAGCTGCCAGGTGCCATGGGGGTATAGGTGACGCGGTAGCCCTCAGGGCACTCCTGGCAATCCATCTTCACCTTGGAGGGGCCGTCAATGGTCACCGACAGGGCACCAGCTCCCGCATTGCTCGTGTTCACGACGAACTCAGCTGGGTTCCCTGGGAGCACAGGAGGTCAGGCAGAGCCAGACTGGCCTGCCTCCCTGTCCTCGGCCACCCAGCACAGGCTTGTCACCTCCAGGTGCCTCCTGTTGTCACCAAGAGCTTGGAGGCAAGGGCCTAGCAGCTGTGTGCACACGTGCAGCCGCACCGACAGACTTACCTGTGACACCGCCTTCCAGACCTGCTCCGTAAGCAGACACCAAGCCTGGGTCCCCTCCATGCCCAGGCTCCCCAACTCGGATCTTGAAGGGGCTTCCAGGGATGTGGGTGCCGTTGAACTTGACGTCAATCAGGTAAACGCCATTCTCCCGAGGGATGAAGCGCACAGCATACTTATCTGAGGAGCAGGGAGTCATGCTGTGGGCCTGGGGCCCCTCCTCAAACCAGCAGATGGTGTCTGTGAGGAACAGCCTCAACCCTGGCCCTCCCCATTTTGCCGGTCCATCAGTGTGAGCCCAGCCACGCTGGGCACCTGCACCCCGCAGCAGACCTCCTGAGGGCCGAAGGTTTAGACACTCAAGCTGCCCACCGTCAGGGTGCATTGGGACGGAAATCTTTTACAAGCCAAACCCAGGCCTTGCTGCCTCCTAAGAAAGGTTACCGTGAACACCATATCCCCTGCATGTTAACAGGCTCAGAGACGGGCAGGAACTTGCTTCAGGTCATGCAGCTGGGAAGGGCAGGACTAGGCCGTGAAATGAAGCCCACTGGGCTCCTCCTACCCACAAGGCTGCCCCAGGCCTGTGCACAAGTACCATGGCCGTGGCTGAAGGGCCGGGCAGCACTGAGGCTGGACTTTGAGTCTTTCCCTGTGGAGATGGCATGGTACTGCAGGGTAGAAGGCCTTCCTAATAGCTGTGGGTGGCGAGCCACATCCCCAGCGGCTTGGGTCACCAATTGGGAAAGGGTTGCCTGGCTTAGGGGGCCCAGGAGTTGGGGCCCCGTCTTGGCTGCTTACAGAAGCGGTACCTTCCTTTTGTACTCTCAGCCTGCTTCCAGCCAGCAGGGCAGGGCGGCCGGGCAGGGACAGGGCCTCACCTTGGTCAATTTCTGTGACATAGCACTCCTCCAGGGCTCCTGAGGGGCTGTGCACCTTGGCATCGATCGCCCCCTTGGCCCCGTTCAGGCTGACTGCAAAAGAGGCTGGCTGGTTGACCTTTAGCCCTGACTCCTGGAAGCACAGCAGACAT | TGGGCTGAGCGGACAAGTCGCAGCCTCAGGGGGACCTCCCGTCCTCCCAACTGGCACTGCATCTTTCTGGGCCTGGCTCTGCTGCCTCACAGCCCCGTTCAGCTGGTGGCTTTTAGAGGCTTCCAGAGTGTGCTTGGCCCCTTTACCTCTATGCCATTGGGCCCAGGGGGAGCAGTAGAGTGGCTGCGGCTGGGGGTGGGACTTCCCCTTTCTGTGTCTTGCTTGCCCCGTGTCTCCCAGTGAGTGGCCGCCCTGAGCCTGGGGCCAGCAGCCCAGCCCCAGTGAGAAATAAAAGTAGCCATCCTGCCTGAACTGCCGCTGCCTTTTCTACTTTGCCCTCTCAACAGGGGTCAAGGAGGGTACGCGTGGTGTTGAGGTCTCAGAAGGTCTGGGTTTGACGTGTGCCATGGCTGCAGGCTACGGCCTGGTCGTGTCAGACGCTGTGGAGCTGAGGGAGGATGTGGCGAGAAAGCTGAGCGTTGCCCCCGAGAGCCTTGCTTCCTGGCCCTTGTCTGCAGATGTCTGAGGTGGTGGTGTCCTTGTCAGGGGTTTGATCGAGGGCCAAAGCCTTTGGCCCAGGGAGCAGGCAGCTTTGGGTGCTGCAGTTGGGATGTCCCGATAGCATGCAGGCAGCACCAGGAGCCAGGACGACTTGGGATGTTATGTGTTTGGGGGCAATCTTTACAGTGGGAGACACATAGGTTGGTGTGGGAATCCACGGCAGGGGTACCAATGAGGGGATATTCAGCAGGGGGCCCAGGGTACCTGGGATTGGCACCTTGAATGCATCCACCTCCTGCCACCTGTTAACTAAAGGGCCCTGAGGCCCAGAGCCTGGGGGAGGGGGCCTCATCCCAGTCCCTTGTTTGGGGGAATGGTGGCATGGTGGCATGTTCAAGTTACCTGGCAGATGGCCAGGGCCTGCTGTGATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGGGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGTCTCCTGGGTTCGCACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCGGGCCTGCTGTTGATTATCTGGCCACCTCCACCAGGGAGCCTTCCTGACACCACCCTACCCAGTAATGGGCTCTCCTGCCCAGCTCTTTGCCTCCTTGCTGCCTGGGCTCCATTCCAGGTTGCTACATGTTCCTCTCCTTACGTTGGCTTGAACTCAGGGAGGCAGAGGAAGCAAAGATAGATGGTGCCTTCTGGAGTCAGGGTGGGGTGAAGCAGGAGCCCTGGAGGGAGGTGACCTGTGCTCAGCCCATGCTTTGATCTGCTCATTGGCACCCCTGTCAGGTTGGCCTTGACTGGTCCCCCAACCCCAACAAAGCTACAGCCACGCAAAGGAGAATGGAAGCAAAACTTTATTCCTCTTGGCTGGAGAAGAGAACTAGTGGGTGGTTGTGTACAGGACCCCCATCCCTCACCCCTCCCAGAACCAAAGAAGACAAGCAGCGCCACCAAATGGCTCCCTCTGCCCAAGTGAAAGCCGAGAGGTCAGCGGCTGGCTGGGGAGGCAGGTGAGCGCAGCACGGCACAGGGCAGGGGCGGCTGCAGTGACAGGCGGGCGGCCAGGGCGGCCTGGGCCGGGGTTGAGGGGAAGAGGGCGGGGCTGCTTGGGTAGCGGGGCAGGCTTGGGGGCTGCCGGCTGGCACGGGCCCCAGACTCAGGGCACCACAACGCGGTAGGGGCTGCCTGGGATGTGCTCGTCCCCCCATTTGACCACCAGTGTGTACTCCCCCTTGTCCTTGAGCAGGTAGGACACGCTGTAGAGCCGGCTGCCCACGTGCTTCACCAGGATCTCCTCGCAGGGGGTCCTTGGGCCATGAACCCCCGAACCCCACCAGCAGCATGTTGTTGCCTGAGGCAAGAGGGGTCCTCAGTCCCAGGTCCCAGCCCCCTTCCTCCCGCTGGTGTCCTGCTCTCCTCTCCTGTCCCTAAGCCAGTTCTGGGGTGACAGTTCTCTCTTCCTAAAGAGCTGCCAGCACCTCCCCAACCCAGGCCAGCTTAGCAGATTCCAGCTCCTCCCTGGTCTTTGTTTGAGGGGTCCAGGAGGTGGCAGGGAGGTGGCTCTAGAAGTGAAAGCCACGCCCCAAAGGCGGTCCCTGCTCTCCCAGACACTGGCCATCCTGTGATTTCTGGCCTCATTTTGGTGGGAAGGTGGGCCGGGGGCCCAGGTTGCCCACCTGCTTTGCTGCAGTCTACTGTGAAGCTGCTCTTCTGGCCTACGTAGGCCTTGCTCAGCCCCAGGCCCTTGGCCACCACCTTGCTGGCGTCAGCAGGCCCAGGACCCGGGGCCCCATGCTGGGGGGCACAGGTGGCCTTGGTCAGAGAGTCTACAAACACTGATGATGTCTCGTGGAGGCTGTGGTTGCTGACGAGACGGGGGCCTGCAAGGCAGAGTGGGTGGGGCTAAGAGGTGGCTGTGGTGCCGGGCGTTGGGCAGATGCCAATAGCTTGGCCCCAGGCTCACCTGTGACTTTGGCCTTGAAGGGGCTGCCCCCAATGTGGTAGGGGCCGCCGTACTTGATGGAGATGAGGTAGCTGCCAGGTGCCATGGGGGTATAGGTGACGCGGTAGCCCTCAGGGCACTCCTGGCAATCCATCTTCACCTTGGAGGGGCCGTCAATGGTCACCGACAGGGCACCAGCTCCCGCATTGCTCGTGTTCACGACGAACTCAGCTGGGTTCCCTGGGAGCACAGGAGGTCAGGCAGAGCCAGACTGGCCTGCCTCCCTGTCCTCGGCCACCCAGCACAGGCTTGTCACCTCCAGGTGCCTCCTGTTGTCACCAAGAGCTTGGAGGCAAGGGCCTAGCAGCTGTGTGCACACGTGCAGCCGCACCGACAGACTTACCTGTGACACCGCCTTCCAGACCTGCTCCGTAAGCAGACACCAAGCCTGGGTCCCCTCCATGCCCAGGCTCCCCAACTCGGATCTTGAAGGGGCTTCCAGGGATGTGGGTGCCGTTGAACTTGACGTCAATCAGGTAAACGCCATTCTCCCGAGGGATGAAGCGCACAGCATACTTATCTGAGGAGCAGGGAGTCATGCTGTGGGCCTGGGGCCCCTCCTCAAACCAGCAGATGGTGTCTGTGAGGAACAGCCTCAACCCTGGCCCTCCCCATTTTGCCGGTCCATCAGTGTGAGCCCAGCCACGCTGGGCACCTGCACCCCGCAGCAGACCTCCTGAGGGCCGAAGGTTTAGACACTCAAGCTGCCCACCGTCAGGGTGCATTGGGACGGAAATCTTTTACAAGCCAAACCCAGGCCTTGCTGCCTCCTAAGAAAGGTTACCGTGAACACCATATCCCCTGCATGTTAACAGGCTCAGAGACGGGCAGGAACTTGCTTCAGGTCATGCAGCTGGGAAGGGCAGGACTAGGCCGTGAAATGAAGCCCACTGGGCTCCTCCTACCCACAAGGCTGCCCCAGGCCTGTGCACAAGTACCATGGCCGTGGCTGAAGGGCCGGGCAGCACTGAGGCTGGACTTTGAGTCTTTCCCTGTGGAGATGGCATGGTACTGCAGGGTAGAAGGCCTTCCTAATAGCTGTGGGTGGCGAGCCACATCCCCAGCGGCTTGGGTCACCAATTGGGAAAGGGTTGCCTGGCTTAGGGGGCCCAGGAGTTGGGGCCCCGTCTTGGCTGCTTACAGAAGCGGTACCTTCCTTTTGTACTCTCAGCCTGCTTCCAGCCAGCAGGGCAGGGCGGCCGGGCAGGGACAGGGCCTCACCTTGGTCAATTTCTGTGACATAGCACTCCTCCAGGGCTCCTGAGGGGCTGTGCACCTTGGCATCGATCGCCCCCTTGGCCCCGTTCAGGCTGACTGCAAAAGAGGCTGGCTGGTTGACCTTTAGCCCTGACTCCTGGAAGCACAG | pathogenic | 341,519 |
Determine if the mutation at chromosome X, position 154350871 in gene FLNA (filamin A) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GCTGCCGGCTGGCACGGGCCCCAGACTCAGGGCACCACAACGCGGTAGGGGCTGCCTGGGATGTGCTCGTCCCCCCATTTGACCACCAGTGTGTACTCCCCCTTGTCCTTGAGCAGGTAGGACACGCTGTAGAGCCGGCTGCCCACGTGCTTCACCAGGATCTCCTCGCAGGGGGTCCTTGGGCCATGAACCCCCACCAGCAGCATGTTGTTGCCTGAGGCAAGAGGGGTCCTCAGTCCCAGGTCCCAGCCCCCTTCCTCCCGCTGGTGTCCTGCTCTCCTCTCCTGTCCCTAAGCCAGTTCTGGGGTGACAGTTCTCTCTTCCTAAAGAGCTGCCAGCACCTCCCCAACCCAGGCCAGCTTAGCAGATTCCAGCTCCTCCCTGGTCTTTGTTTGAGGGGTCCAGGAGGTGGCAGGGAGGTGGCTCTAGAAGTGAAAGCCACGCCCCAAAGGCGGTCCCTGCTCTCCCAGACACTGGCCATCCTGTGATTTCTGGCCTCATTTTGGTGGGAAGGTGGGCCGGGGGCCCAGGTTGCCCACCTGCTTTGCTGCAGTCTACTGTGAAGCTGCTCTTCTGGCCTACGTAGGCCTTGCTCAGCCCCAGGCCCTTGGCCACCACCTTGCTGGCGTCAGCAGGCCCAGGACCCGGGGCCCCATGCTGGGGGGCACAGGTGGCCTTGGTCAGAGAGTCTACAAACACTGATGATGTCTCGTGGAGGCTGTGGTTGCTGACGAGACGGGGGCCTGCAAGGCAGAGTGGGTGGGGCTAAGAGGTGGCTGTGGTGCCGGGCGTTGGGCAGATGCCAATAGCTTGGCCCCAGGCTCACCTGTGACTTTGGCCTTGAAGGGGCTGCCCCCAATGTGGTAGGGGCCGCCGTACTTGATGGAGATGAGGTAGCTGCCAGGTGCCATGGGGGTATAGGTGACGCGGTAGCCCTCAGGGCACTCCTGGCAATCCATCTTCACCTTGGAGGGGCCGTCAATGGTCACCGACAGGGCACCAGCTCCCGCATTGCTCGTGTTCACGACGAACTCAGCTGGGTTCCCTGGGAGCACAGGAGGTCAGGCAGAGCCAGACTGGCCTGCCTCCCTGTCCTCGGCCACCCAGCACAGGCTTGTCACCTCCAGGTGCCTCCTGTTGTCACCAAGAGCTTGGAGGCAAGGGCCTAGCAGCTGTGTGCACACGTGCAGCCGCACCGACAGACTTACCTGTGACACCGCCTTCCAGACCTGCTCCGTAAGCAGACACCAAGCCTGGGTCCCCTCCATGCCCAGGCTCCCCAACTCGGATCTTGAAGGGGCTTCCAGGGATGTGGGTGCCGTTGAACTTGACGTCAATCAGGTAAACGCCATTCTCCCGAGGGATGAAGCGCACAGCATACTTATCTGAGGAGCAGGGAGTCATGCTGTGGGCCTGGGGCCCCTCCTCAAACCAGCAGATGGTGTCTGTGAGGAACAGCCTCAACCCTGGCCCTCCCCATTTTGCCGGTCCATCAGTGTGAGCCCAGCCACGCTGGGCACCTGCACCCCGCAGCAGACCTCCTGAGGGCCGAAGGTTTAGACACTCAAGCTGCCCACCGTCAGGGTGCATTGGGACGGAAATCTTTTACAAGCCAAACCCAGGCCTTGCTGCCTCCTAAGAAAGGTTACCGTGAACACCATATCCCCTGCATGTTAACAGGCTCAGAGACGGGCAGGAACTTGCTTCAGGTCATGCAGCTGGGAAGGGCAGGACTAGGCCGTGAAATGAAGCCCACTGGGCTCCTCCTACCCACAAGGCTGCCCCAGGCCTGTGCACAAGTACCATGGCCGTGGCTGAAGGGCCGGGCAGCACTGAGGCTGGACTTTGAGTCTTTCCCTGTGGAGATGGCATGGTACTGCAGGGTAGAAGGCCTTCCTAATAGCTGTGGGTGGCGAGCCACATCCCCAGCGGCTTGGGTCACCAATTGGGAAAGGGTTGCCTGGCTTAGGGGGCCCAGGAGTTGGGGCCCCGTCTTGGCTGCTTACAGAAGCGGTACCTTCCTTTTGTACTCTCAGCCTGCTTCCAGCCAGCAGGGCAGGGCGGCCGGGCAGGGACAGGGCCTCACCTTGGTCAATTTCTGTGACATAGCACTCCTCCAGGGCTCCTGAGGGGCTGTGCACCTTGGCATCGATCGCCCCCTTGGCCCCGTTCAGGCTGACTGCAAAAGAGGCTGGCTGGTTGACCTTTAGCCCTGACTCCTGGAAGCACAGCAGACATGGTTAGATGGGGGTGCTTGAGCCAGGGCAAGGGAGGACGGAAAGGCCCCAGGAGCAAGAGGCCCGCGGGTCGCACTTACCCATCTGGCGTCCAACTTGGTTTAAAGAGGGAGAGCCACTGATTTGCAAGGGGCAGCAAGCCACAGGCGCACATCCCCGCCCCTGCCCCCACACTCTGCCGTCGCACACACCCAGGTGGCAGGAAGGGAGGGCTGCCCCACCCTGTGGGCAGCACCCAGCCTTGGCAGGCTGTCCCTCTTTAAACCGCAGCCCTGGTGCTCAAGGGGCACAGGCTTCTGTTCAAAGCCTTTAGACCTGAGACACGAGAAAAACTCCACGTGGTGGGCAGGATATTTCCTGCCGACCCCAAGCGTGGGCTGCACCCGGCCAGAGCAGAGGCCTGGAACCCAGAGCTGGGCCAGGGGGGTCACTGAACACAGGGCCAAGGCCTGGTCTCTGCGGTGGCTCTGGTCTGTCCGGGCCCAGGAGCCCCAGGTGGGCGGTTTCTCTCGGTGCCTCACCTGAAGGCTAGAAACAGTGAGGCGGCGGGCGTCGCCAGACGGAGAAGCCACAGGCACCACGAAGGGGCTGTCGGGAATGTGTTCCTCGTTGAACTTGACTGAGACTTCGTAGTCACCTGGGCAGGGAAAGAGTGTAAGACCGGCTCATCAGCCTTTGGGCCTCCCACCTCCCACGAACAGCCTGGGTGGCCCTGTGACCTCAAAGTGAAGAGTGAGTGCCAGGCAGGGCTATCTGTGCCAGCCCTGGGTCCAATACCCACACTCAGGCCCCACCTCCTCCAACCCCAGCCGGGTTCCCAGTACCTGGCTCCTGGACCACATAAGCCACACCACAGGAGCCGTCCTTGCGGTCCTCAAAAGAGATCTCAGCCTTGCTGGGGCCCTCGACAGCAATGGCCAGGCCTCCAGCACCAGCTTCCCGGGTCCAGATACTGAATTCGGCTGTGGGAGAACAGTTTGTCCTCACTGAAGGCTGCTTCACCAGCCTCGGCCCCCTCCAGGCATAGCCAAGGTAGACATGCCTGCCGGCTCTTTCCTCCACCCCCAACCCCACCCTGGCCAACGCAGGAGAGCGAGCACTCGGGGTGTGAGCAGGCCTACCTGGCACTCCAGCTTCAGCTCTCTCCAGGCCAGGGCCCCCAGCTCGGACCTTGTGGGCTCCCCCTTCCCCTAGGGGCCCCACGGTGAACTGGAAGGGGCTCCCAGGCACGTGCTGGCCCTTGTACTTCACGCTGACTGTGTGTGTGCCCATCTCAGCGGGAACAAAGCGGATGCAGTAGGTGTGGTTCTCCCCTTCCACGATCTCGGCCTCATGGGTCTTGCCCGATGGGCTGGTCACCTGGGCTGTCATATCCTGGATGCTAATTTCTGCAGGGTGGGGATGGGCTAGTGAGCAGCAGCCCTGGGCTCCACCCCTCCTCTTGGGGCTGCTTGAGCCCCAGGACCCCTCCCCAGGCTTCCCACAGCCCCTACCAGGGATTTTCAGGCTGAGGTCACAATGACTACCAACGTTGGCCACTGAAGGAGCCCGACGCCTGCGGGTGATGCTCTCTTTCACCCGGCCCTCGCCTGTCACCTTCACAGAGAAGGGGCTGCCTGCAGGAAGAAAGCACGGCCCACGCCCCTCCAGTCACATACTGCCTGTGGGCCCTGGTGTAGTGAGGGGGGCTGCCGAGGCACTGCTGCACTCACCAGGCACGTGCTGGTCGGCAAACTTGATGTTGATGATGTAGTTGCCTGGCTCTGTGGGGCAGTAGGTGACCCTGCACGTCCCGTCCTCCAGGTCCTCTGTGTTGATGTCCACCTTGCTGGGGCCCTCAATGGACAGGCTGAGCCCAC | GCTGCCGGCTGGCACGGGCCCCAGACTCAGGGCACCACAACGCGGTAGGGGCTGCCTGGGATGTGCTCGTCCCCCCATTTGACCACCAGTGTGTACTCCCCCTTGTCCTTGAGCAGGTAGGACACGCTGTAGAGCCGGCTGCCCACGTGCTTCACCAGGATCTCCTCGCAGGGGGTCCTTGGGCCATGAACCCCCACCAGCAGCATGTTGTTGCCTGAGGCAAGAGGGGTCCTCAGTCCCAGGTCCCAGCCCCCTTCCTCCCGCTGGTGTCCTGCTCTCCTCTCCTGTCCCTAAGCCAGTTCTGGGGTGACAGTTCTCTCTTCCTAAAGAGCTGCCAGCACCTCCCCAACCCAGGCCAGCTTAGCAGATTCCAGCTCCTCCCTGGTCTTTGTTTGAGGGGTCCAGGAGGTGGCAGGGAGGTGGCTCTAGAAGTGAAAGCCACGCCCCAAAGGCGGTCCCTGCTCTCCCAGACACTGGCCATCCTGTGATTTCTGGCCTCATTTTGGTGGGAAGGTGGGCCGGGGGCCCAGGTTGCCCACCTGCTTTGCTGCAGTCTACTGTGAAGCTGCTCTTCTGGCCTACGTAGGCCTTGCTCAGCCCCAGGCCCTTGGCCACCACCTTGCTGGCGTCAGCAGGCCCAGGACCCGGGGCCCCATGCTGGGGGGCACAGGTGGCCTTGGTCAGAGAGTCTACAAACACTGATGATGTCTCGTGGAGGCTGTGGTTGCTGACGAGACGGGGGCCTGCAAGGCAGAGTGGGTGGGGCTAAGAGGTGGCTGTGGTGCCGGGCGTTGGGCAGATGCCAATAGCTTGGCCCCAGGCTCACCTGTGACTTTGGCCTTGAAGGGGCTGCCCCCAATGTGGTAGGGGCCGCCGTACTTGATGGAGATGAGGTAGCTGCCAGGTGCCATGGGGGTATAGGTGACGCGGTAGCCCTCAGGGCACTCCTGGCAATCCATCTTCACCTTGGAGGGGCCGTCAATGGTCACCGACAGGGCACCAGCTCCCGCATTGCTCGTGTTCACGACGAACTCAGCTGGGTTCCCTGGGAGCACAGGAGGTCAGGCAGAGCCAGACTGGCCTGCCTCCCTGTCCTCGGCCACCCAGCACAGGCTTGTCACCTCCAGGTGCCTCCTGTTGTCACCAAGAGCTTGGAGGCAAGGGCCTAGCAGCTGTGTGCACACGTGCAGCCGCACCGACAGACTTACCTGTGACACCGCCTTCCAGACCTGCTCCGTAAGCAGACACCAAGCCTGGGTCCCCTCCATGCCCAGGCTCCCCAACTCGGATCTTGAAGGGGCTTCCAGGGATGTGGGTGCCGTTGAACTTGACGTCAATCAGGTAAACGCCATTCTCCCGAGGGATGAAGCGCACAGCATACTTATCTGAGGAGCAGGGAGTCATGCTGTGGGCCTGGGGCCCCTCCTCAAACCAGCAGATGGTGTCTGTGAGGAACAGCCTCAACCCTGGCCCTCCCCATTTTGCCGGTCCATCAGTGTGAGCCCAGCCACGCTGGGCACCTGCACCCCGCAGCAGACCTCCTGAGGGCCGAAGGTTTAGACACTCAAGCTGCCCACCGTCAGGGTGCATTGGGACGGAAATCTTTTACAAGCCAAACCCAGGCCTTGCTGCCTCCTAAGAAAGGTTACCGTGAACACCATATCCCCTGCATGTTAACAGGCTCAGAGACGGGCAGGAACTTGCTTCAGGTCATGCAGCTGGGAAGGGCAGGACTAGGCCGTGAAATGAAGCCCACTGGGCTCCTCCTACCCACAAGGCTGCCCCAGGCCTGTGCACAAGTACCATGGCCGTGGCTGAAGGGCCGGGCAGCACTGAGGCTGGACTTTGAGTCTTTCCCTGTGGAGATGGCATGGTACTGCAGGGTAGAAGGCCTTCCTAATAGCTGTGGGTGGCGAGCCACATCCCCAGCGGCTTGGGTCACCAATTGGGAAAGGGTTGCCTGGCTTAGGGGGCCCAGGAGTTGGGGCCCCGTCTTGGCTGCTTACAGAAGCGGTACCTTCCTTTTGTACTCTCAGCCTGCTTCCAGCCGGCAGGGACAGGGCCTCACCTTGGTCAATTTCTGTGACATAGCACTCCTCCAGGGCTCCTGAGGGGCTGTGCACCTTGGCATCGATCGCCCCCTTGGCCCCGTTCAGGCTGACTGCAAAAGAGGCTGGCTGGTTGACCTTTAGCCCTGACTCCTGGAAGCACAGCAGACATGGTTAGATGGGGGTGCTTGAGCCAGGGCAAGGGAGGACGGAAAGGCCCCAGGAGCAAGAGGCCCGCGGGTCGCACTTACCCATCTGGCGTCCAACTTGGTTTAAAGAGGGAGAGCCACTGATTTGCAAGGGGCAGCAAGCCACAGGCGCACATCCCCGCCCCTGCCCCCACACTCTGCCGTCGCACACACCCAGGTGGCAGGAAGGGAGGGCTGCCCCACCCTGTGGGCAGCACCCAGCCTTGGCAGGCTGTCCCTCTTTAAACCGCAGCCCTGGTGCTCAAGGGGCACAGGCTTCTGTTCAAAGCCTTTAGACCTGAGACACGAGAAAAACTCCACGTGGTGGGCAGGATATTTCCTGCCGACCCCAAGCGTGGGCTGCACCCGGCCAGAGCAGAGGCCTGGAACCCAGAGCTGGGCCAGGGGGGTCACTGAACACAGGGCCAAGGCCTGGTCTCTGCGGTGGCTCTGGTCTGTCCGGGCCCAGGAGCCCCAGGTGGGCGGTTTCTCTCGGTGCCTCACCTGAAGGCTAGAAACAGTGAGGCGGCGGGCGTCGCCAGACGGAGAAGCCACAGGCACCACGAAGGGGCTGTCGGGAATGTGTTCCTCGTTGAACTTGACTGAGACTTCGTAGTCACCTGGGCAGGGAAAGAGTGTAAGACCGGCTCATCAGCCTTTGGGCCTCCCACCTCCCACGAACAGCCTGGGTGGCCCTGTGACCTCAAAGTGAAGAGTGAGTGCCAGGCAGGGCTATCTGTGCCAGCCCTGGGTCCAATACCCACACTCAGGCCCCACCTCCTCCAACCCCAGCCGGGTTCCCAGTACCTGGCTCCTGGACCACATAAGCCACACCACAGGAGCCGTCCTTGCGGTCCTCAAAAGAGATCTCAGCCTTGCTGGGGCCCTCGACAGCAATGGCCAGGCCTCCAGCACCAGCTTCCCGGGTCCAGATACTGAATTCGGCTGTGGGAGAACAGTTTGTCCTCACTGAAGGCTGCTTCACCAGCCTCGGCCCCCTCCAGGCATAGCCAAGGTAGACATGCCTGCCGGCTCTTTCCTCCACCCCCAACCCCACCCTGGCCAACGCAGGAGAGCGAGCACTCGGGGTGTGAGCAGGCCTACCTGGCACTCCAGCTTCAGCTCTCTCCAGGCCAGGGCCCCCAGCTCGGACCTTGTGGGCTCCCCCTTCCCCTAGGGGCCCCACGGTGAACTGGAAGGGGCTCCCAGGCACGTGCTGGCCCTTGTACTTCACGCTGACTGTGTGTGTGCCCATCTCAGCGGGAACAAAGCGGATGCAGTAGGTGTGGTTCTCCCCTTCCACGATCTCGGCCTCATGGGTCTTGCCCGATGGGCTGGTCACCTGGGCTGTCATATCCTGGATGCTAATTTCTGCAGGGTGGGGATGGGCTAGTGAGCAGCAGCCCTGGGCTCCACCCCTCCTCTTGGGGCTGCTTGAGCCCCAGGACCCCTCCCCAGGCTTCCCACAGCCCCTACCAGGGATTTTCAGGCTGAGGTCACAATGACTACCAACGTTGGCCACTGAAGGAGCCCGACGCCTGCGGGTGATGCTCTCTTTCACCCGGCCCTCGCCTGTCACCTTCACAGAGAAGGGGCTGCCTGCAGGAAGAAAGCACGGCCCACGCCCCTCCAGTCACATACTGCCTGTGGGCCCTGGTGTAGTGAGGGGGGCTGCCGAGGCACTGCTGCACTCACCAGGCACGTGCTGGTCGGCAAACTTGATGTTGATGATGTAGTTGCCTGGCTCTGTGGGGCAGTAGGTGACCCTGCACGTCCCGTCCTCCAGGTCCTCTGTGTTGATGTCCACCTTGCTGGGGCCCTCAATGGACAGGCTGAGCCCACNNNNNNNNNNNNNNNNNN | benign | 341,579 |
Gene mutation in FLNA (filamin A) at chromosome X, position 154350893—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AGACTCAGGGCACCACAACGCGGTAGGGGCTGCCTGGGATGTGCTCGTCCCCCCATTTGACCACCAGTGTGTACTCCCCCTTGTCCTTGAGCAGGTAGGACACGCTGTAGAGCCGGCTGCCCACGTGCTTCACCAGGATCTCCTCGCAGGGGGTCCTTGGGCCATGAACCCCCACCAGCAGCATGTTGTTGCCTGAGGCAAGAGGGGTCCTCAGTCCCAGGTCCCAGCCCCCTTCCTCCCGCTGGTGTCCTGCTCTCCTCTCCTGTCCCTAAGCCAGTTCTGGGGTGACAGTTCTCTCTTCCTAAAGAGCTGCCAGCACCTCCCCAACCCAGGCCAGCTTAGCAGATTCCAGCTCCTCCCTGGTCTTTGTTTGAGGGGTCCAGGAGGTGGCAGGGAGGTGGCTCTAGAAGTGAAAGCCACGCCCCAAAGGCGGTCCCTGCTCTCCCAGACACTGGCCATCCTGTGATTTCTGGCCTCATTTTGGTGGGAAGGTGGGCCGGGGGCCCAGGTTGCCCACCTGCTTTGCTGCAGTCTACTGTGAAGCTGCTCTTCTGGCCTACGTAGGCCTTGCTCAGCCCCAGGCCCTTGGCCACCACCTTGCTGGCGTCAGCAGGCCCAGGACCCGGGGCCCCATGCTGGGGGGCACAGGTGGCCTTGGTCAGAGAGTCTACAAACACTGATGATGTCTCGTGGAGGCTGTGGTTGCTGACGAGACGGGGGCCTGCAAGGCAGAGTGGGTGGGGCTAAGAGGTGGCTGTGGTGCCGGGCGTTGGGCAGATGCCAATAGCTTGGCCCCAGGCTCACCTGTGACTTTGGCCTTGAAGGGGCTGCCCCCAATGTGGTAGGGGCCGCCGTACTTGATGGAGATGAGGTAGCTGCCAGGTGCCATGGGGGTATAGGTGACGCGGTAGCCCTCAGGGCACTCCTGGCAATCCATCTTCACCTTGGAGGGGCCGTCAATGGTCACCGACAGGGCACCAGCTCCCGCATTGCTCGTGTTCACGACGAACTCAGCTGGGTTCCCTGGGAGCACAGGAGGTCAGGCAGAGCCAGACTGGCCTGCCTCCCTGTCCTCGGCCACCCAGCACAGGCTTGTCACCTCCAGGTGCCTCCTGTTGTCACCAAGAGCTTGGAGGCAAGGGCCTAGCAGCTGTGTGCACACGTGCAGCCGCACCGACAGACTTACCTGTGACACCGCCTTCCAGACCTGCTCCGTAAGCAGACACCAAGCCTGGGTCCCCTCCATGCCCAGGCTCCCCAACTCGGATCTTGAAGGGGCTTCCAGGGATGTGGGTGCCGTTGAACTTGACGTCAATCAGGTAAACGCCATTCTCCCGAGGGATGAAGCGCACAGCATACTTATCTGAGGAGCAGGGAGTCATGCTGTGGGCCTGGGGCCCCTCCTCAAACCAGCAGATGGTGTCTGTGAGGAACAGCCTCAACCCTGGCCCTCCCCATTTTGCCGGTCCATCAGTGTGAGCCCAGCCACGCTGGGCACCTGCACCCCGCAGCAGACCTCCTGAGGGCCGAAGGTTTAGACACTCAAGCTGCCCACCGTCAGGGTGCATTGGGACGGAAATCTTTTACAAGCCAAACCCAGGCCTTGCTGCCTCCTAAGAAAGGTTACCGTGAACACCATATCCCCTGCATGTTAACAGGCTCAGAGACGGGCAGGAACTTGCTTCAGGTCATGCAGCTGGGAAGGGCAGGACTAGGCCGTGAAATGAAGCCCACTGGGCTCCTCCTACCCACAAGGCTGCCCCAGGCCTGTGCACAAGTACCATGGCCGTGGCTGAAGGGCCGGGCAGCACTGAGGCTGGACTTTGAGTCTTTCCCTGTGGAGATGGCATGGTACTGCAGGGTAGAAGGCCTTCCTAATAGCTGTGGGTGGCGAGCCACATCCCCAGCGGCTTGGGTCACCAATTGGGAAAGGGTTGCCTGGCTTAGGGGGCCCAGGAGTTGGGGCCCCGTCTTGGCTGCTTACAGAAGCGGTACCTTCCTTTTGTACTCTCAGCCTGCTTCCAGCCAGCAGGGCAGGGCGGCCGGGCAGGGACAGGGCCTCACCTTGGTCAATTTCTGTGACATAGCACTCCTCCAGGGCTCCTGAGGGGCTGTGCACCTTGGCATCGATCGCCCCCTTGGCCCCGTTCAGGCTGACTGCAAAAGAGGCTGGCTGGTTGACCTTTAGCCCTGACTCCTGGAAGCACAGCAGACATGGTTAGATGGGGGTGCTTGAGCCAGGGCAAGGGAGGACGGAAAGGCCCCAGGAGCAAGAGGCCCGCGGGTCGCACTTACCCATCTGGCGTCCAACTTGGTTTAAAGAGGGAGAGCCACTGATTTGCAAGGGGCAGCAAGCCACAGGCGCACATCCCCGCCCCTGCCCCCACACTCTGCCGTCGCACACACCCAGGTGGCAGGAAGGGAGGGCTGCCCCACCCTGTGGGCAGCACCCAGCCTTGGCAGGCTGTCCCTCTTTAAACCGCAGCCCTGGTGCTCAAGGGGCACAGGCTTCTGTTCAAAGCCTTTAGACCTGAGACACGAGAAAAACTCCACGTGGTGGGCAGGATATTTCCTGCCGACCCCAAGCGTGGGCTGCACCCGGCCAGAGCAGAGGCCTGGAACCCAGAGCTGGGCCAGGGGGGTCACTGAACACAGGGCCAAGGCCTGGTCTCTGCGGTGGCTCTGGTCTGTCCGGGCCCAGGAGCCCCAGGTGGGCGGTTTCTCTCGGTGCCTCACCTGAAGGCTAGAAACAGTGAGGCGGCGGGCGTCGCCAGACGGAGAAGCCACAGGCACCACGAAGGGGCTGTCGGGAATGTGTTCCTCGTTGAACTTGACTGAGACTTCGTAGTCACCTGGGCAGGGAAAGAGTGTAAGACCGGCTCATCAGCCTTTGGGCCTCCCACCTCCCACGAACAGCCTGGGTGGCCCTGTGACCTCAAAGTGAAGAGTGAGTGCCAGGCAGGGCTATCTGTGCCAGCCCTGGGTCCAATACCCACACTCAGGCCCCACCTCCTCCAACCCCAGCCGGGTTCCCAGTACCTGGCTCCTGGACCACATAAGCCACACCACAGGAGCCGTCCTTGCGGTCCTCAAAAGAGATCTCAGCCTTGCTGGGGCCCTCGACAGCAATGGCCAGGCCTCCAGCACCAGCTTCCCGGGTCCAGATACTGAATTCGGCTGTGGGAGAACAGTTTGTCCTCACTGAAGGCTGCTTCACCAGCCTCGGCCCCCTCCAGGCATAGCCAAGGTAGACATGCCTGCCGGCTCTTTCCTCCACCCCCAACCCCACCCTGGCCAACGCAGGAGAGCGAGCACTCGGGGTGTGAGCAGGCCTACCTGGCACTCCAGCTTCAGCTCTCTCCAGGCCAGGGCCCCCAGCTCGGACCTTGTGGGCTCCCCCTTCCCCTAGGGGCCCCACGGTGAACTGGAAGGGGCTCCCAGGCACGTGCTGGCCCTTGTACTTCACGCTGACTGTGTGTGTGCCCATCTCAGCGGGAACAAAGCGGATGCAGTAGGTGTGGTTCTCCCCTTCCACGATCTCGGCCTCATGGGTCTTGCCCGATGGGCTGGTCACCTGGGCTGTCATATCCTGGATGCTAATTTCTGCAGGGTGGGGATGGGCTAGTGAGCAGCAGCCCTGGGCTCCACCCCTCCTCTTGGGGCTGCTTGAGCCCCAGGACCCCTCCCCAGGCTTCCCACAGCCCCTACCAGGGATTTTCAGGCTGAGGTCACAATGACTACCAACGTTGGCCACTGAAGGAGCCCGACGCCTGCGGGTGATGCTCTCTTTCACCCGGCCCTCGCCTGTCACCTTCACAGAGAAGGGGCTGCCTGCAGGAAGAAAGCACGGCCCACGCCCCTCCAGTCACATACTGCCTGTGGGCCCTGGTGTAGTGAGGGGGGCTGCCGAGGCACTGCTGCACTCACCAGGCACGTGCTGGTCGGCAAACTTGATGTTGATGATGTAGTTGCCTGGCTCTGTGGGGCAGTAGGTGACCCTGCACGTCCCGTCCTCCAGGTCCTCTGTGTTGATGTCCACCTTGCTGGGGCCCTCAATGGACAGGCTGAGCCCACCATAGCCTAGGGGATGGATACC | AGACTCAGGGCACCACAACGCGGTAGGGGCTGCCTGGGATGTGCTCGTCCCCCCATTTGACCACCAGTGTGTACTCCCCCTTGTCCTTGAGCAGGTAGGACACGCTGTAGAGCCGGCTGCCCACGTGCTTCACCAGGATCTCCTCGCAGGGGGTCCTTGGGCCATGAACCCCCACCAGCAGCATGTTGTTGCCTGAGGCAAGAGGGGTCCTCAGTCCCAGGTCCCAGCCCCCTTCCTCCCGCTGGTGTCCTGCTCTCCTCTCCTGTCCCTAAGCCAGTTCTGGGGTGACAGTTCTCTCTTCCTAAAGAGCTGCCAGCACCTCCCCAACCCAGGCCAGCTTAGCAGATTCCAGCTCCTCCCTGGTCTTTGTTTGAGGGGTCCAGGAGGTGGCAGGGAGGTGGCTCTAGAAGTGAAAGCCACGCCCCAAAGGCGGTCCCTGCTCTCCCAGACACTGGCCATCCTGTGATTTCTGGCCTCATTTTGGTGGGAAGGTGGGCCGGGGGCCCAGGTTGCCCACCTGCTTTGCTGCAGTCTACTGTGAAGCTGCTCTTCTGGCCTACGTAGGCCTTGCTCAGCCCCAGGCCCTTGGCCACCACCTTGCTGGCGTCAGCAGGCCCAGGACCCGGGGCCCCATGCTGGGGGGCACAGGTGGCCTTGGTCAGAGAGTCTACAAACACTGATGATGTCTCGTGGAGGCTGTGGTTGCTGACGAGACGGGGGCCTGCAAGGCAGAGTGGGTGGGGCTAAGAGGTGGCTGTGGTGCCGGGCGTTGGGCAGATGCCAATAGCTTGGCCCCAGGCTCACCTGTGACTTTGGCCTTGAAGGGGCTGCCCCCAATGTGGTAGGGGCCGCCGTACTTGATGGAGATGAGGTAGCTGCCAGGTGCCATGGGGGTATAGGTGACGCGGTAGCCCTCAGGGCACTCCTGGCAATCCATCTTCACCTTGGAGGGGCCGTCAATGGTCACCGACAGGGCACCAGCTCCCGCATTGCTCGTGTTCACGACGAACTCAGCTGGGTTCCCTGGGAGCACAGGAGGTCAGGCAGAGCCAGACTGGCCTGCCTCCCTGTCCTCGGCCACCCAGCACAGGCTTGTCACCTCCAGGTGCCTCCTGTTGTCACCAAGAGCTTGGAGGCAAGGGCCTAGCAGCTGTGTGCACACGTGCAGCCGCACCGACAGACTTACCTGTGACACCGCCTTCCAGACCTGCTCCGTAAGCAGACACCAAGCCTGGGTCCCCTCCATGCCCAGGCTCCCCAACTCGGATCTTGAAGGGGCTTCCAGGGATGTGGGTGCCGTTGAACTTGACGTCAATCAGGTAAACGCCATTCTCCCGAGGGATGAAGCGCACAGCATACTTATCTGAGGAGCAGGGAGTCATGCTGTGGGCCTGGGGCCCCTCCTCAAACCAGCAGATGGTGTCTGTGAGGAACAGCCTCAACCCTGGCCCTCCCCATTTTGCCGGTCCATCAGTGTGAGCCCAGCCACGCTGGGCACCTGCACCCCGCAGCAGACCTCCTGAGGGCCGAAGGTTTAGACACTCAAGCTGCCCACCGTCAGGGTGCATTGGGACGGAAATCTTTTACAAGCCAAACCCAGGCCTTGCTGCCTCCTAAGAAAGGTTACCGTGAACACCATATCCCCTGCATGTTAACAGGCTCAGAGACGGGCAGGAACTTGCTTCAGGTCATGCAGCTGGGAAGGGCAGGACTAGGCCGTGAAATGAAGCCCACTGGGCTCCTCCTACCCACAAGGCTGCCCCAGGCCTGTGCACAAGTACCATGGCCGTGGCTGAAGGGCCGGGCAGCACTGAGGCTGGACTTTGAGTCTTTCCCTGTGGAGATGGCATGGTACTGCAGGGTAGAAGGCCTTCCTAATAGCTGTGGGTGGCGAGCCACATCCCCAGCGGCTTGGGTCACCAATTGGGAAAGGGTTGCCTGGCTTAGGGGGCCCAGGAGTTGGGGCCCCGTCTTGGCTGCTTACAGAAGCGGTACCTTCCTTTTGTACTCTCAGCCTGCTTCCAGCCAGCAGGGCAGGGCGGCCGGGCAAGGGCCTCACCTTGGTCAATTTCTGTGACATAGCACTCCTCCAGGGCTCCTGAGGGGCTGTGCACCTTGGCATCGATCGCCCCCTTGGCCCCGTTCAGGCTGACTGCAAAAGAGGCTGGCTGGTTGACCTTTAGCCCTGACTCCTGGAAGCACAGCAGACATGGTTAGATGGGGGTGCTTGAGCCAGGGCAAGGGAGGACGGAAAGGCCCCAGGAGCAAGAGGCCCGCGGGTCGCACTTACCCATCTGGCGTCCAACTTGGTTTAAAGAGGGAGAGCCACTGATTTGCAAGGGGCAGCAAGCCACAGGCGCACATCCCCGCCCCTGCCCCCACACTCTGCCGTCGCACACACCCAGGTGGCAGGAAGGGAGGGCTGCCCCACCCTGTGGGCAGCACCCAGCCTTGGCAGGCTGTCCCTCTTTAAACCGCAGCCCTGGTGCTCAAGGGGCACAGGCTTCTGTTCAAAGCCTTTAGACCTGAGACACGAGAAAAACTCCACGTGGTGGGCAGGATATTTCCTGCCGACCCCAAGCGTGGGCTGCACCCGGCCAGAGCAGAGGCCTGGAACCCAGAGCTGGGCCAGGGGGGTCACTGAACACAGGGCCAAGGCCTGGTCTCTGCGGTGGCTCTGGTCTGTCCGGGCCCAGGAGCCCCAGGTGGGCGGTTTCTCTCGGTGCCTCACCTGAAGGCTAGAAACAGTGAGGCGGCGGGCGTCGCCAGACGGAGAAGCCACAGGCACCACGAAGGGGCTGTCGGGAATGTGTTCCTCGTTGAACTTGACTGAGACTTCGTAGTCACCTGGGCAGGGAAAGAGTGTAAGACCGGCTCATCAGCCTTTGGGCCTCCCACCTCCCACGAACAGCCTGGGTGGCCCTGTGACCTCAAAGTGAAGAGTGAGTGCCAGGCAGGGCTATCTGTGCCAGCCCTGGGTCCAATACCCACACTCAGGCCCCACCTCCTCCAACCCCAGCCGGGTTCCCAGTACCTGGCTCCTGGACCACATAAGCCACACCACAGGAGCCGTCCTTGCGGTCCTCAAAAGAGATCTCAGCCTTGCTGGGGCCCTCGACAGCAATGGCCAGGCCTCCAGCACCAGCTTCCCGGGTCCAGATACTGAATTCGGCTGTGGGAGAACAGTTTGTCCTCACTGAAGGCTGCTTCACCAGCCTCGGCCCCCTCCAGGCATAGCCAAGGTAGACATGCCTGCCGGCTCTTTCCTCCACCCCCAACCCCACCCTGGCCAACGCAGGAGAGCGAGCACTCGGGGTGTGAGCAGGCCTACCTGGCACTCCAGCTTCAGCTCTCTCCAGGCCAGGGCCCCCAGCTCGGACCTTGTGGGCTCCCCCTTCCCCTAGGGGCCCCACGGTGAACTGGAAGGGGCTCCCAGGCACGTGCTGGCCCTTGTACTTCACGCTGACTGTGTGTGTGCCCATCTCAGCGGGAACAAAGCGGATGCAGTAGGTGTGGTTCTCCCCTTCCACGATCTCGGCCTCATGGGTCTTGCCCGATGGGCTGGTCACCTGGGCTGTCATATCCTGGATGCTAATTTCTGCAGGGTGGGGATGGGCTAGTGAGCAGCAGCCCTGGGCTCCACCCCTCCTCTTGGGGCTGCTTGAGCCCCAGGACCCCTCCCCAGGCTTCCCACAGCCCCTACCAGGGATTTTCAGGCTGAGGTCACAATGACTACCAACGTTGGCCACTGAAGGAGCCCGACGCCTGCGGGTGATGCTCTCTTTCACCCGGCCCTCGCCTGTCACCTTCACAGAGAAGGGGCTGCCTGCAGGAAGAAAGCACGGCCCACGCCCCTCCAGTCACATACTGCCTGTGGGCCCTGGTGTAGTGAGGGGGGCTGCCGAGGCACTGCTGCACTCACCAGGCACGTGCTGGTCGGCAAACTTGATGTTGATGATGTAGTTGCCTGGCTCTGTGGGGCAGTAGGTGACCCTGCACGTCCCGTCCTCCAGGTCCTCTGTGTTGATGTCCACCTTGCTGGGGCCCTCAATGGACAGGCTGAGCCCACCATAGCCTAGGGGATGGATACCNNNNN | benign | 341,581 |
Clinically, how would you classify the variant at chromosome X, position 154352311, gene FLNA (filamin A): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Frontometaphyseal_dysplasia', 'Heterotopia,_periventricular,_X-linked_dominant', 'Melnick-Needles_syndrome', 'Oto-palato-digital_syndrome,_type_II'] | GGTGTCTGTGAGGAACAGCCTCAACCCTGGCCCTCCCCATTTTGCCGGTCCATCAGTGTGAGCCCAGCCACGCTGGGCACCTGCACCCCGCAGCAGACCTCCTGAGGGCCGAAGGTTTAGACACTCAAGCTGCCCACCGTCAGGGTGCATTGGGACGGAAATCTTTTACAAGCCAAACCCAGGCCTTGCTGCCTCCTAAGAAAGGTTACCGTGAACACCATATCCCCTGCATGTTAACAGGCTCAGAGACGGGCAGGAACTTGCTTCAGGTCATGCAGCTGGGAAGGGCAGGACTAGGCCGTGAAATGAAGCCCACTGGGCTCCTCCTACCCACAAGGCTGCCCCAGGCCTGTGCACAAGTACCATGGCCGTGGCTGAAGGGCCGGGCAGCACTGAGGCTGGACTTTGAGTCTTTCCCTGTGGAGATGGCATGGTACTGCAGGGTAGAAGGCCTTCCTAATAGCTGTGGGTGGCGAGCCACATCCCCAGCGGCTTGGGTCACCAATTGGGAAAGGGTTGCCTGGCTTAGGGGGCCCAGGAGTTGGGGCCCCGTCTTGGCTGCTTACAGAAGCGGTACCTTCCTTTTGTACTCTCAGCCTGCTTCCAGCCAGCAGGGCAGGGCGGCCGGGCAGGGACAGGGCCTCACCTTGGTCAATTTCTGTGACATAGCACTCCTCCAGGGCTCCTGAGGGGCTGTGCACCTTGGCATCGATCGCCCCCTTGGCCCCGTTCAGGCTGACTGCAAAAGAGGCTGGCTGGTTGACCTTTAGCCCTGACTCCTGGAAGCACAGCAGACATGGTTAGATGGGGGTGCTTGAGCCAGGGCAAGGGAGGACGGAAAGGCCCCAGGAGCAAGAGGCCCGCGGGTCGCACTTACCCATCTGGCGTCCAACTTGGTTTAAAGAGGGAGAGCCACTGATTTGCAAGGGGCAGCAAGCCACAGGCGCACATCCCCGCCCCTGCCCCCACACTCTGCCGTCGCACACACCCAGGTGGCAGGAAGGGAGGGCTGCCCCACCCTGTGGGCAGCACCCAGCCTTGGCAGGCTGTCCCTCTTTAAACCGCAGCCCTGGTGCTCAAGGGGCACAGGCTTCTGTTCAAAGCCTTTAGACCTGAGACACGAGAAAAACTCCACGTGGTGGGCAGGATATTTCCTGCCGACCCCAAGCGTGGGCTGCACCCGGCCAGAGCAGAGGCCTGGAACCCAGAGCTGGGCCAGGGGGGTCACTGAACACAGGGCCAAGGCCTGGTCTCTGCGGTGGCTCTGGTCTGTCCGGGCCCAGGAGCCCCAGGTGGGCGGTTTCTCTCGGTGCCTCACCTGAAGGCTAGAAACAGTGAGGCGGCGGGCGTCGCCAGACGGAGAAGCCACAGGCACCACGAAGGGGCTGTCGGGAATGTGTTCCTCGTTGAACTTGACTGAGACTTCGTAGTCACCTGGGCAGGGAAAGAGTGTAAGACCGGCTCATCAGCCTTTGGGCCTCCCACCTCCCACGAACAGCCTGGGTGGCCCTGTGACCTCAAAGTGAAGAGTGAGTGCCAGGCAGGGCTATCTGTGCCAGCCCTGGGTCCAATACCCACACTCAGGCCCCACCTCCTCCAACCCCAGCCGGGTTCCCAGTACCTGGCTCCTGGACCACATAAGCCACACCACAGGAGCCGTCCTTGCGGTCCTCAAAAGAGATCTCAGCCTTGCTGGGGCCCTCGACAGCAATGGCCAGGCCTCCAGCACCAGCTTCCCGGGTCCAGATACTGAATTCGGCTGTGGGAGAACAGTTTGTCCTCACTGAAGGCTGCTTCACCAGCCTCGGCCCCCTCCAGGCATAGCCAAGGTAGACATGCCTGCCGGCTCTTTCCTCCACCCCCAACCCCACCCTGGCCAACGCAGGAGAGCGAGCACTCGGGGTGTGAGCAGGCCTACCTGGCACTCCAGCTTCAGCTCTCTCCAGGCCAGGGCCCCCAGCTCGGACCTTGTGGGCTCCCCCTTCCCCTAGGGGCCCCACGGTGAACTGGAAGGGGCTCCCAGGCACGTGCTGGCCCTTGTACTTCACGCTGACTGTGTGTGTGCCCATCTCAGCGGGAACAAAGCGGATGCAGTAGGTGTGGTTCTCCCCTTCCACGATCTCGGCCTCATGGGTCTTGCCCGATGGGCTGGTCACCTGGGCTGTCATATCCTGGATGCTAATTTCTGCAGGGTGGGGATGGGCTAGTGAGCAGCAGCCCTGGGCTCCACCCCTCCTCTTGGGGCTGCTTGAGCCCCAGGACCCCTCCCCAGGCTTCCCACAGCCCCTACCAGGGATTTTCAGGCTGAGGTCACAATGACTACCAACGTTGGCCACTGAAGGAGCCCGACGCCTGCGGGTGATGCTCTCTTTCACCCGGCCCTCGCCTGTCACCTTCACAGAGAAGGGGCTGCCTGCAGGAAGAAAGCACGGCCCACGCCCCTCCAGTCACATACTGCCTGTGGGCCCTGGTGTAGTGAGGGGGGCTGCCGAGGCACTGCTGCACTCACCAGGCACGTGCTGGTCGGCAAACTTGATGTTGATGATGTAGTTGCCTGGCTCTGTGGGGCAGTAGGTGACCCTGCACGTCCCGTCCTCCAGGTCCTCTGTGTTGATGTCCACCTTGCTGGGGCCCTCAATGGACAGGCTGAGCCCACCATAGCCTAGGGGATGGATACCCCTGAGCCTCGGTGCTATGCACAGTGCTCCCGCCCCAGCTGGTGGGCAGCCACTGCCTACCTGCATCGCGGGTATCAATGATAAACTCTGCAGGCTCAAAGGTGTGGCCTTCGTGAAGGCCCTGACCAGAGACCCGAACACGACTGGCATCCCCAATTTCCGACTGGCTGATCACCACCGGGATGGGGCTGCTGGCCACGTGCTGGCCATTTTTCTTCACATGCACCAGGTGCTCCCCCGTCTCCTTGGGCACGAATGAAATCCCTGGACACAGGGCATGGCTGTCAGTCAGGGAGGGCATGGCTCCCCACAGGCTGCCTCCTTTCTGAACCCCCTGGACCCTTCAGCCGCTTACCCACGTGGCCATTACGCAGCCGCTTCAGCAAACAGGGCTCCTCCCGGCCCGAGGGCGGGACCACAGTGGCCGTCAGCAGGCTGAGATCCGTCTCTGAGATGTTGATGGGGATGTCGGCAGCAGAGCCGACCTTTAGGTGGGACATACGCATGGAGTCGTCACCTGGTGGGGACAGGCCAGCCATCAGTGTGCGTCCAGCCATGGGAGACCATGCCCACCCTGCCACCCGTTTCTGTCACTGCTCCCAGTGCCACCCACCTGTGACCCGAGCAGTGAAGGGGCTGCCTGGGACGTGCTGTTCATTGTACTTGACTAGAATGCTGTAGTCCCCCGGCAGCACAGGCAGGTAGGACACGCTGCATGTCCCATCCTGGTTGTCAGTGCAGCTGATTTCTGCTTTGGACGGGCCCTCAATGGCCAGAGACAGGCCCCCTGGAGAGAGCCGTGGGTGAGCATGGGAACTATGCTGGGGACACTCCAGTTGGCCTGCACTGAGGAGCTCCGATGGCCAGGGCAGCAGGGCAGGGAGCCCCATTCAGGAGTATCTCCTGAGTCCAGCCCTTACCCCGGTGAGGGCATCCCGGGCACAGAGCAGGTCAAGACCAGAGCTATTGCTCACCCTCTCCTGCATCCTTGGTGTTGACGGTGAAGGTGGCAGGCTTGTTCACTACTCCATGGGTGAGGCCAGGCCCATAGGCAGTGACATGGCCACAGTTGACGTAATCCACATAGAACTGCAAGGGGCTTCCTGAGGCAGGAAGAAGGGCCTTGTGGAATGGCAGCCTCGTGTGTCCCCCAGCCCCATCTCTCTGTGAGGTGGTGGCGGTGGAGTGGGCAGAGGCAGGGCAGGCCCACCTGGGATGTGCATGTTGTCATAGCGGATGTCCATCTCGTGCAGGCCAGCCTCGCTGGGTGCATACCGCACGGTCACGGTGCCGTCTTTGTTGTCAGTGATGGTGGGCTGCGCCACCTTGCCTGAGGGCATCCGAACCTCCCCTGTGGGGCAGTGGGGCTGAGGTCAGGGCAGCTCATTGGCACAGTCTGGCCTCCTTGGCTCCCGAGC | GGTGTCTGTGAGGAACAGCCTCAACCCTGGCCCTCCCCATTTTGCCGGTCCATCAGTGTGAGCCCAGCCACGCTGGGCACCTGCACCCCGCAGCAGACCTCCTGAGGGCCGAAGGTTTAGACACTCAAGCTGCCCACCGTCAGGGTGCATTGGGACGGAAATCTTTTACAAGCCAAACCCAGGCCTTGCTGCCTCCTAAGAAAGGTTACCGTGAACACCATATCCCCTGCATGTTAACAGGCTCAGAGACGGGCAGGAACTTGCTTCAGGTCATGCAGCTGGGAAGGGCAGGACTAGGCCGTGAAATGAAGCCCACTGGGCTCCTCCTACCCACAAGGCTGCCCCAGGCCTGTGCACAAGTACCATGGCCGTGGCTGAAGGGCCGGGCAGCACTGAGGCTGGACTTTGAGTCTTTCCCTGTGGAGATGGCATGGTACTGCAGGGTAGAAGGCCTTCCTAATAGCTGTGGGTGGCGAGCCACATCCCCAGCGGCTTGGGTCACCAATTGGGAAAGGGTTGCCTGGCTTAGGGGGCCCAGGAGTTGGGGCCCCGTCTTGGCTGCTTACAGAAGCGGTACCTTCCTTTTGTACTCTCAGCCTGCTTCCAGCCAGCAGGGCAGGGCGGCCGGGCAGGGACAGGGCCTCACCTTGGTCAATTTCTGTGACATAGCACTCCTCCAGGGCTCCTGAGGGGCTGTGCACCTTGGCATCGATCGCCCCCTTGGCCCCGTTCAGGCTGACTGCAAAAGAGGCTGGCTGGTTGACCTTTAGCCCTGACTCCTGGAAGCACAGCAGACATGGTTAGATGGGGGTGCTTGAGCCAGGGCAAGGGAGGACGGAAAGGCCCCAGGAGCAAGAGGCCCGCGGGTCGCACTTACCCATCTGGCGTCCAACTTGGTTTAAAGAGGGAGAGCCACTGATTTGCAAGGGGCAGCAAGCCACAGGCGCACATCCCCGCCCCTGCCCCCACACTCTGCCGTCGCACACACCCAGGTGGCAGGAAGGGAGGGCTGCCCCACCCTGTGGGCAGCACCCAGCCTTGGCAGGCTGTCCCTCTTTAAACCGCAGCCCTGGTGCTCAAGGGGCACAGGCTTCTGTTCAAAGCCTTTAGACCTGAGACACGAGAAAAACTCCACGTGGTGGGCAGGATATTTCCTGCCGACCCCAAGCGTGGGCTGCACCCGGCCAGAGCAGAGGCCTGGAACCCAGAGCTGGGCCAGGGGGGTCACTGAACACAGGGCCAAGGCCTGGTCTCTGCGGTGGCTCTGGTCTGTCCGGGCCCAGGAGCCCCAGGTGGGCGGTTTCTCTCGGTGCCTCACCTGAAGGCTAGAAACAGTGAGGCGGCGGGCGTCGCCAGACGGAGAAGCCACAGGCACCACGAAGGGGCTGTCGGGAATGTGTTCCTCGTTGAACTTGACTGAGACTTCGTAGTCACCTGGGCAGGGAAAGAGTGTAAGACCGGCTCATCAGCCTTTGGGCCTCCCACCTCCCACGAACAGCCTGGGTGGCCCTGTGACCTCAAAGTGAAGAGTGAGTGCCAGGCAGGGCTATCTGTGCCAGCCCTGGGTCCAATACCCACACTCAGGCCCCACCTCCTCCAACCCCAGCCGGGTTCCCAGTACCTGGCTCCTGGACCACATAAGCCACACCACAGGAGCCGTCCTTGCGGTCCTCAAAAGAGATCTCAGCCTTGCTGGGGCCCTCGACAGCAATGGCCAGGCCTCCAGCACCAGCTTCCCGGGTCCAGATACTGAATTCGGCTGTGGGAGAACAGTTTGTCCTCACTGAAGGCTGCTTCACCAGCCTCGGCCCCCTCCAGGCATAGCCAAGGTAGACATGCCTGCCGGCTCTTTCCTCCACCCCCAACCCCACCCTGGCCAACGCAGGAGAGCGAGCACTCGGGGTGTGAGCAGGCCTACCTGGCACTCCAGCTTCAGCTCTCTCCAGGCCAGGGCCCCCAGCTCGGACCTTGTGGGCTCCCCCTTCCCCTAGGGGCCCCACGGTGAACTGGAAGGGGCTCCCAGGCACGTGCTGGCCCTTGTACTTCACGCTGTGTGTGTGCCCATCTCAGCGGGAACAAAGCGGATGCAGTAGGTGTGGTTCTCCCCTTCCACGATCTCGGCCTCATGGGTCTTGCCCGATGGGCTGGTCACCTGGGCTGTCATATCCTGGATGCTAATTTCTGCAGGGTGGGGATGGGCTAGTGAGCAGCAGCCCTGGGCTCCACCCCTCCTCTTGGGGCTGCTTGAGCCCCAGGACCCCTCCCCAGGCTTCCCACAGCCCCTACCAGGGATTTTCAGGCTGAGGTCACAATGACTACCAACGTTGGCCACTGAAGGAGCCCGACGCCTGCGGGTGATGCTCTCTTTCACCCGGCCCTCGCCTGTCACCTTCACAGAGAAGGGGCTGCCTGCAGGAAGAAAGCACGGCCCACGCCCCTCCAGTCACATACTGCCTGTGGGCCCTGGTGTAGTGAGGGGGGCTGCCGAGGCACTGCTGCACTCACCAGGCACGTGCTGGTCGGCAAACTTGATGTTGATGATGTAGTTGCCTGGCTCTGTGGGGCAGTAGGTGACCCTGCACGTCCCGTCCTCCAGGTCCTCTGTGTTGATGTCCACCTTGCTGGGGCCCTCAATGGACAGGCTGAGCCCACCATAGCCTAGGGGATGGATACCCCTGAGCCTCGGTGCTATGCACAGTGCTCCCGCCCCAGCTGGTGGGCAGCCACTGCCTACCTGCATCGCGGGTATCAATGATAAACTCTGCAGGCTCAAAGGTGTGGCCTTCGTGAAGGCCCTGACCAGAGACCCGAACACGACTGGCATCCCCAATTTCCGACTGGCTGATCACCACCGGGATGGGGCTGCTGGCCACGTGCTGGCCATTTTTCTTCACATGCACCAGGTGCTCCCCCGTCTCCTTGGGCACGAATGAAATCCCTGGACACAGGGCATGGCTGTCAGTCAGGGAGGGCATGGCTCCCCACAGGCTGCCTCCTTTCTGAACCCCCTGGACCCTTCAGCCGCTTACCCACGTGGCCATTACGCAGCCGCTTCAGCAAACAGGGCTCCTCCCGGCCCGAGGGCGGGACCACAGTGGCCGTCAGCAGGCTGAGATCCGTCTCTGAGATGTTGATGGGGATGTCGGCAGCAGAGCCGACCTTTAGGTGGGACATACGCATGGAGTCGTCACCTGGTGGGGACAGGCCAGCCATCAGTGTGCGTCCAGCCATGGGAGACCATGCCCACCCTGCCACCCGTTTCTGTCACTGCTCCCAGTGCCACCCACCTGTGACCCGAGCAGTGAAGGGGCTGCCTGGGACGTGCTGTTCATTGTACTTGACTAGAATGCTGTAGTCCCCCGGCAGCACAGGCAGGTAGGACACGCTGCATGTCCCATCCTGGTTGTCAGTGCAGCTGATTTCTGCTTTGGACGGGCCCTCAATGGCCAGAGACAGGCCCCCTGGAGAGAGCCGTGGGTGAGCATGGGAACTATGCTGGGGACACTCCAGTTGGCCTGCACTGAGGAGCTCCGATGGCCAGGGCAGCAGGGCAGGGAGCCCCATTCAGGAGTATCTCCTGAGTCCAGCCCTTACCCCGGTGAGGGCATCCCGGGCACAGAGCAGGTCAAGACCAGAGCTATTGCTCACCCTCTCCTGCATCCTTGGTGTTGACGGTGAAGGTGGCAGGCTTGTTCACTACTCCATGGGTGAGGCCAGGCCCATAGGCAGTGACATGGCCACAGTTGACGTAATCCACATAGAACTGCAAGGGGCTTCCTGAGGCAGGAAGAAGGGCCTTGTGGAATGGCAGCCTCGTGTGTCCCCCAGCCCCATCTCTCTGTGAGGTGGTGGCGGTGGAGTGGGCAGAGGCAGGGCAGGCCCACCTGGGATGTGCATGTTGTCATAGCGGATGTCCATCTCGTGCAGGCCAGCCTCGCTGGGTGCATACCGCACGGTCACGGTGCCGTCTTTGTTGTCAGTGATGGTGGGCTGCGCCACCTTGCCTGAGGGCATCCGAACCTCCCCTGTGGGGCAGTGGGGCTGAGGTCAGGGCAGCTCATTGGCACAGTCTGGCCTCCTTGGCTCCCGAGCNNNN | pathogenic | 341,616 |
The genetic variant at chromosome X, position 154352658, affecting gene FLNA (filamin A): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Frontometaphyseal_dysplasia', 'Heterotopia,_periventricular,_X-linked_dominant', 'Melnick-Needles_syndrome', 'Oto-palato-digital_syndrome,_type_II'] | GCCTGTGCACAAGTACCATGGCCGTGGCTGAAGGGCCGGGCAGCACTGAGGCTGGACTTTGAGTCTTTCCCTGTGGAGATGGCATGGTACTGCAGGGTAGAAGGCCTTCCTAATAGCTGTGGGTGGCGAGCCACATCCCCAGCGGCTTGGGTCACCAATTGGGAAAGGGTTGCCTGGCTTAGGGGGCCCAGGAGTTGGGGCCCCGTCTTGGCTGCTTACAGAAGCGGTACCTTCCTTTTGTACTCTCAGCCTGCTTCCAGCCAGCAGGGCAGGGCGGCCGGGCAGGGACAGGGCCTCACCTTGGTCAATTTCTGTGACATAGCACTCCTCCAGGGCTCCTGAGGGGCTGTGCACCTTGGCATCGATCGCCCCCTTGGCCCCGTTCAGGCTGACTGCAAAAGAGGCTGGCTGGTTGACCTTTAGCCCTGACTCCTGGAAGCACAGCAGACATGGTTAGATGGGGGTGCTTGAGCCAGGGCAAGGGAGGACGGAAAGGCCCCAGGAGCAAGAGGCCCGCGGGTCGCACTTACCCATCTGGCGTCCAACTTGGTTTAAAGAGGGAGAGCCACTGATTTGCAAGGGGCAGCAAGCCACAGGCGCACATCCCCGCCCCTGCCCCCACACTCTGCCGTCGCACACACCCAGGTGGCAGGAAGGGAGGGCTGCCCCACCCTGTGGGCAGCACCCAGCCTTGGCAGGCTGTCCCTCTTTAAACCGCAGCCCTGGTGCTCAAGGGGCACAGGCTTCTGTTCAAAGCCTTTAGACCTGAGACACGAGAAAAACTCCACGTGGTGGGCAGGATATTTCCTGCCGACCCCAAGCGTGGGCTGCACCCGGCCAGAGCAGAGGCCTGGAACCCAGAGCTGGGCCAGGGGGGTCACTGAACACAGGGCCAAGGCCTGGTCTCTGCGGTGGCTCTGGTCTGTCCGGGCCCAGGAGCCCCAGGTGGGCGGTTTCTCTCGGTGCCTCACCTGAAGGCTAGAAACAGTGAGGCGGCGGGCGTCGCCAGACGGAGAAGCCACAGGCACCACGAAGGGGCTGTCGGGAATGTGTTCCTCGTTGAACTTGACTGAGACTTCGTAGTCACCTGGGCAGGGAAAGAGTGTAAGACCGGCTCATCAGCCTTTGGGCCTCCCACCTCCCACGAACAGCCTGGGTGGCCCTGTGACCTCAAAGTGAAGAGTGAGTGCCAGGCAGGGCTATCTGTGCCAGCCCTGGGTCCAATACCCACACTCAGGCCCCACCTCCTCCAACCCCAGCCGGGTTCCCAGTACCTGGCTCCTGGACCACATAAGCCACACCACAGGAGCCGTCCTTGCGGTCCTCAAAAGAGATCTCAGCCTTGCTGGGGCCCTCGACAGCAATGGCCAGGCCTCCAGCACCAGCTTCCCGGGTCCAGATACTGAATTCGGCTGTGGGAGAACAGTTTGTCCTCACTGAAGGCTGCTTCACCAGCCTCGGCCCCCTCCAGGCATAGCCAAGGTAGACATGCCTGCCGGCTCTTTCCTCCACCCCCAACCCCACCCTGGCCAACGCAGGAGAGCGAGCACTCGGGGTGTGAGCAGGCCTACCTGGCACTCCAGCTTCAGCTCTCTCCAGGCCAGGGCCCCCAGCTCGGACCTTGTGGGCTCCCCCTTCCCCTAGGGGCCCCACGGTGAACTGGAAGGGGCTCCCAGGCACGTGCTGGCCCTTGTACTTCACGCTGACTGTGTGTGTGCCCATCTCAGCGGGAACAAAGCGGATGCAGTAGGTGTGGTTCTCCCCTTCCACGATCTCGGCCTCATGGGTCTTGCCCGATGGGCTGGTCACCTGGGCTGTCATATCCTGGATGCTAATTTCTGCAGGGTGGGGATGGGCTAGTGAGCAGCAGCCCTGGGCTCCACCCCTCCTCTTGGGGCTGCTTGAGCCCCAGGACCCCTCCCCAGGCTTCCCACAGCCCCTACCAGGGATTTTCAGGCTGAGGTCACAATGACTACCAACGTTGGCCACTGAAGGAGCCCGACGCCTGCGGGTGATGCTCTCTTTCACCCGGCCCTCGCCTGTCACCTTCACAGAGAAGGGGCTGCCTGCAGGAAGAAAGCACGGCCCACGCCCCTCCAGTCACATACTGCCTGTGGGCCCTGGTGTAGTGAGGGGGGCTGCCGAGGCACTGCTGCACTCACCAGGCACGTGCTGGTCGGCAAACTTGATGTTGATGATGTAGTTGCCTGGCTCTGTGGGGCAGTAGGTGACCCTGCACGTCCCGTCCTCCAGGTCCTCTGTGTTGATGTCCACCTTGCTGGGGCCCTCAATGGACAGGCTGAGCCCACCATAGCCTAGGGGATGGATACCCCTGAGCCTCGGTGCTATGCACAGTGCTCCCGCCCCAGCTGGTGGGCAGCCACTGCCTACCTGCATCGCGGGTATCAATGATAAACTCTGCAGGCTCAAAGGTGTGGCCTTCGTGAAGGCCCTGACCAGAGACCCGAACACGACTGGCATCCCCAATTTCCGACTGGCTGATCACCACCGGGATGGGGCTGCTGGCCACGTGCTGGCCATTTTTCTTCACATGCACCAGGTGCTCCCCCGTCTCCTTGGGCACGAATGAAATCCCTGGACACAGGGCATGGCTGTCAGTCAGGGAGGGCATGGCTCCCCACAGGCTGCCTCCTTTCTGAACCCCCTGGACCCTTCAGCCGCTTACCCACGTGGCCATTACGCAGCCGCTTCAGCAAACAGGGCTCCTCCCGGCCCGAGGGCGGGACCACAGTGGCCGTCAGCAGGCTGAGATCCGTCTCTGAGATGTTGATGGGGATGTCGGCAGCAGAGCCGACCTTTAGGTGGGACATACGCATGGAGTCGTCACCTGGTGGGGACAGGCCAGCCATCAGTGTGCGTCCAGCCATGGGAGACCATGCCCACCCTGCCACCCGTTTCTGTCACTGCTCCCAGTGCCACCCACCTGTGACCCGAGCAGTGAAGGGGCTGCCTGGGACGTGCTGTTCATTGTACTTGACTAGAATGCTGTAGTCCCCCGGCAGCACAGGCAGGTAGGACACGCTGCATGTCCCATCCTGGTTGTCAGTGCAGCTGATTTCTGCTTTGGACGGGCCCTCAATGGCCAGAGACAGGCCCCCTGGAGAGAGCCGTGGGTGAGCATGGGAACTATGCTGGGGACACTCCAGTTGGCCTGCACTGAGGAGCTCCGATGGCCAGGGCAGCAGGGCAGGGAGCCCCATTCAGGAGTATCTCCTGAGTCCAGCCCTTACCCCGGTGAGGGCATCCCGGGCACAGAGCAGGTCAAGACCAGAGCTATTGCTCACCCTCTCCTGCATCCTTGGTGTTGACGGTGAAGGTGGCAGGCTTGTTCACTACTCCATGGGTGAGGCCAGGCCCATAGGCAGTGACATGGCCACAGTTGACGTAATCCACATAGAACTGCAAGGGGCTTCCTGAGGCAGGAAGAAGGGCCTTGTGGAATGGCAGCCTCGTGTGTCCCCCAGCCCCATCTCTCTGTGAGGTGGTGGCGGTGGAGTGGGCAGAGGCAGGGCAGGCCCACCTGGGATGTGCATGTTGTCATAGCGGATGTCCATCTCGTGCAGGCCAGCCTCGCTGGGTGCATACCGCACGGTCACGGTGCCGTCTTTGTTGTCAGTGATGGTGGGCTGCGCCACCTTGCCTGAGGGCATCCGAACCTCCCCTGTGGGGCAGTGGGGCTGAGGTCAGGGCAGCTCATTGGCACAGTCTGGCCTCCTTGGCTCCCGAGCTCCTTCCCAAGTCCCCACTCACCTGTGATCTCGCCCTTCTTGATGGTGAAGGGGATGACAAGGTCAAAGGGCCTCAGGCTGGTCACATCCAGCCCATTGACACCCACCAGGGGCCTCTCCGGGGCCTGCAGTGGAGACACAGGGCATGGGTGAGGGACAGTGGGAGGATCTGGGGTCCCTCCTCACACATGGTAAACTAGGGGCTCACAGAACACCCAGCTGGCTAGCCCCAGTGTCCCTAGCTGGCCAGGCCGTACCCAAGTCTGCTGGCCGCCCTGGGCGTAGGTGTACTGTGGGGCCAGCTGCTGAGACCGTAGAGGGGGCTGCACCGAGGGCTGGTCCCCAGC | GCCTGTGCACAAGTACCATGGCCGTGGCTGAAGGGCCGGGCAGCACTGAGGCTGGACTTTGAGTCTTTCCCTGTGGAGATGGCATGGTACTGCAGGGTAGAAGGCCTTCCTAATAGCTGTGGGTGGCGAGCCACATCCCCAGCGGCTTGGGTCACCAATTGGGAAAGGGTTGCCTGGCTTAGGGGGCCCAGGAGTTGGGGCCCCGTCTTGGCTGCTTACAGAAGCGGTACCTTCCTTTTGTACTCTCAGCCTGCTTCCAGCCAGCAGGGCAGGGCGGCCGGGCAGGGACAGGGCCTCACCTTGGTCAATTTCTGTGACATAGCACTCCTCCAGGGCTCCTGAGGGGCTGTGCACCTTGGCATCGATCGCCCCCTTGGCCCCGTTCAGGCTGACTGCAAAAGAGGCTGGCTGGTTGACCTTTAGCCCTGACTCCTGGAAGCACAGCAGACATGGTTAGATGGGGGTGCTTGAGCCAGGGCAAGGGAGGACGGAAAGGCCCCAGGAGCAAGAGGCCCGCGGGTCGCACTTACCCATCTGGCGTCCAACTTGGTTTAAAGAGGGAGAGCCACTGATTTGCAAGGGGCAGCAAGCCACAGGCGCACATCCCCGCCCCTGCCCCCACACTCTGCCGTCGCACACACCCAGGTGGCAGGAAGGGAGGGCTGCCCCACCCTGTGGGCAGCACCCAGCCTTGGCAGGCTGTCCCTCTTTAAACCGCAGCCCTGGTGCTCAAGGGGCACAGGCTTCTGTTCAAAGCCTTTAGACCTGAGACACGAGAAAAACTCCACGTGGTGGGCAGGATATTTCCTGCCGACCCCAAGCGTGGGCTGCACCCGGCCAGAGCAGAGGCCTGGAACCCAGAGCTGGGCCAGGGGGGTCACTGAACACAGGGCCAAGGCCTGGTCTCTGCGGTGGCTCTGGTCTGTCCGGGCCCAGGAGCCCCAGGTGGGCGGTTTCTCTCGGTGCCTCACCTGAAGGCTAGAAACAGTGAGGCGGCGGGCGTCGCCAGACGGAGAAGCCACAGGCACCACGAAGGGGCTGTCGGGAATGTGTTCCTCGTTGAACTTGACTGAGACTTCGTAGTCACCTGGGCAGGGAAAGAGTGTAAGACCGGCTCATCAGCCTTTGGGCCTCCCACCTCCCACGAACAGCCTGGGTGGCCCTGTGACCTCAAAGTGAAGAGTGAGTGCCAGGCAGGGCTATCTGTGCCAGCCCTGGGTCCAATACCCACACTCAGGCCCCACCTCCTCCAACCCCAGCCGGGTTCCCAGTACCTGGCTCCTGGACCACATAAGCCACACCACAGGAGCCGTCCTTGCGGTCCTCAAAAGAGATCTCAGCCTTGCTGGGGCCCTCGACAGCAATGGCCAGGCCTCCAGCACCAGCTTCCCGGGTCCAGATACTGAATTCGGCTGTGGGAGAACAGTTTGTCCTCACTGAAGGCTGCTTCACCAGCCTCGGCCCCCTCCAGGCATAGCCAAGGTAGACATGCCTGCCGGCTCTTTCCTCCACCCCCAACCCCACCCTGGCCAACGCAGGAGAGCGAGCACTCGGGGTGTGAGCAGGCCTACCTGGCACTCCAGCTTCAGCTCTCTCCAGGCCAGGGCCCCCAGCTCGGACCTTGTGGGCTCCCCCTTCCCCTAGGGGCCCCACGGTGAACTGGAAGGGGCTCCCAGGCACGTGCTGGCCCTTGTACTTCACGCTGACTGTGTGTGTGCCCATCTCAGCGGGAACAAAGCGGATGCAGTAGGTGTGGTTCTCCCCTTCCACGATCTCGGCCTCATGGGTCTTGCCCGATGGGCTGGTCACCTGGGCTGTCATATCCTGGATGCTAATTTCTGCAGGGTGGGGATGGGCTAGTGAGCAGCAGCCCTGGGCTCCACCCCTCCTCTTGGGGCTGCTTGAGCCCCAGGACCCCTCCCCAGGCTTCCCACAGCCCCTACCAGGGATTTTCAGGCTGAGGTCACAATGACTACCAACGTTGGCCACTGAAGGAGCCCGACGCCTGCGGGTGATGCTCTCTTTCACCCGGCCCTCGCCTGTCACCTTCAGAGAAGGGGCTGCCTGCAGGAAGAAAGCACGGCCCACGCCCCTCCAGTCACATACTGCCTGTGGGCCCTGGTGTAGTGAGGGGGGCTGCCGAGGCACTGCTGCACTCACCAGGCACGTGCTGGTCGGCAAACTTGATGTTGATGATGTAGTTGCCTGGCTCTGTGGGGCAGTAGGTGACCCTGCACGTCCCGTCCTCCAGGTCCTCTGTGTTGATGTCCACCTTGCTGGGGCCCTCAATGGACAGGCTGAGCCCACCATAGCCTAGGGGATGGATACCCCTGAGCCTCGGTGCTATGCACAGTGCTCCCGCCCCAGCTGGTGGGCAGCCACTGCCTACCTGCATCGCGGGTATCAATGATAAACTCTGCAGGCTCAAAGGTGTGGCCTTCGTGAAGGCCCTGACCAGAGACCCGAACACGACTGGCATCCCCAATTTCCGACTGGCTGATCACCACCGGGATGGGGCTGCTGGCCACGTGCTGGCCATTTTTCTTCACATGCACCAGGTGCTCCCCCGTCTCCTTGGGCACGAATGAAATCCCTGGACACAGGGCATGGCTGTCAGTCAGGGAGGGCATGGCTCCCCACAGGCTGCCTCCTTTCTGAACCCCCTGGACCCTTCAGCCGCTTACCCACGTGGCCATTACGCAGCCGCTTCAGCAAACAGGGCTCCTCCCGGCCCGAGGGCGGGACCACAGTGGCCGTCAGCAGGCTGAGATCCGTCTCTGAGATGTTGATGGGGATGTCGGCAGCAGAGCCGACCTTTAGGTGGGACATACGCATGGAGTCGTCACCTGGTGGGGACAGGCCAGCCATCAGTGTGCGTCCAGCCATGGGAGACCATGCCCACCCTGCCACCCGTTTCTGTCACTGCTCCCAGTGCCACCCACCTGTGACCCGAGCAGTGAAGGGGCTGCCTGGGACGTGCTGTTCATTGTACTTGACTAGAATGCTGTAGTCCCCCGGCAGCACAGGCAGGTAGGACACGCTGCATGTCCCATCCTGGTTGTCAGTGCAGCTGATTTCTGCTTTGGACGGGCCCTCAATGGCCAGAGACAGGCCCCCTGGAGAGAGCCGTGGGTGAGCATGGGAACTATGCTGGGGACACTCCAGTTGGCCTGCACTGAGGAGCTCCGATGGCCAGGGCAGCAGGGCAGGGAGCCCCATTCAGGAGTATCTCCTGAGTCCAGCCCTTACCCCGGTGAGGGCATCCCGGGCACAGAGCAGGTCAAGACCAGAGCTATTGCTCACCCTCTCCTGCATCCTTGGTGTTGACGGTGAAGGTGGCAGGCTTGTTCACTACTCCATGGGTGAGGCCAGGCCCATAGGCAGTGACATGGCCACAGTTGACGTAATCCACATAGAACTGCAAGGGGCTTCCTGAGGCAGGAAGAAGGGCCTTGTGGAATGGCAGCCTCGTGTGTCCCCCAGCCCCATCTCTCTGTGAGGTGGTGGCGGTGGAGTGGGCAGAGGCAGGGCAGGCCCACCTGGGATGTGCATGTTGTCATAGCGGATGTCCATCTCGTGCAGGCCAGCCTCGCTGGGTGCATACCGCACGGTCACGGTGCCGTCTTTGTTGTCAGTGATGGTGGGCTGCGCCACCTTGCCTGAGGGCATCCGAACCTCCCCTGTGGGGCAGTGGGGCTGAGGTCAGGGCAGCTCATTGGCACAGTCTGGCCTCCTTGGCTCCCGAGCTCCTTCCCAAGTCCCCACTCACCTGTGATCTCGCCCTTCTTGATGGTGAAGGGGATGACAAGGTCAAAGGGCCTCAGGCTGGTCACATCCAGCCCATTGACACCCACCAGGGGCCTCTCCGGGGCCTGCAGTGGAGACACAGGGCATGGGTGAGGGACAGTGGGAGGATCTGGGGTCCCTCCTCACACATGGTAAACTAGGGGCTCACAGAACACCCAGCTGGCTAGCCCCAGTGTCCCTAGCTGGCCAGGCCGTACCCAAGTCTGCTGGCCGCCCTGGGCGTAGGTGTACTGTGGGGCCAGCTGCTGAGACCGTAGAGGGGGCTGCACCGAGGGCTGGTCCCCAGCNN | pathogenic | 341,628 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 154357635, gene FLNA (filamin A). What disease(s) is it linked to if pathogenic? | benign | AGAAGGCTCGCGGTGAAAAGCAGCCCGGTGCAGACAGGAGTGGGAGCGGGGAAGCGGGAGGCAGCGGGGTTAGCACCCGAGTAGCGCAGCGCAGCAGGCTTGGCAGAGCGGGGATAGCACCCAGGGAGACAGGGAACAGGAGGCCCAAGCTACAGCCACCACTGCTGGGTTGCGAGGGCAGAGCAGCTGAGCAGGCTCCAGGGCCCCAGAGTGCCCGAGGAAAGGGGAGAGACAGTGACGTTATGATCTGGGTCTCCGCCGTGGAGGCTTGGGGGGCTGTGGGCTGTGAGGCCTGGCAGTGAGAGTGCCCCCTGCAGCCTGGCCTCCTGCCAGGGAAGCAGCCAGGAGCACGAAACCTACTTGAAGGCCAAGCTCGAGGGGCCCTGCCACCAAGTCCCACTATCGGCCGAGGGCTCCTGCTGCACTAGGCTCCATGCTGGCCTGCCGCGGCCAGGCAGCTCTCCCAGGCTCCAGACCTGGCTGCCGGCTGCCCACGCTGCCCTGGGAGGCTTCACTCATGTGCACCCCATGCCATCTAGTTAGTGGCTTGGGCCCCAACCTCACAGGTACCCGACTGCCCCCACTTTCCCTGCCCGGCTCCCAGCCAACCGCAGGTCTCAGCCACTCCATCCTCAAAGTATGCCTCCTAATTTGGCTCTCACTGAAGCCCCGTGGCCGTCAAGCTTGCCAGAGAGCAACTTCAGCGCCCCCTTCCCCACCCCGGGCTCCCTGTCTCCATTCTGCAAACAGTAGCCAGGGAAACTGAGGTTACTGAGTCTTGCTCCCACCCTCAAAGCCCCCAAGGCCCTGCAATCAGTACTCCCCAGCCTCCCCCGCCCTGCGCACACACGCCTGTCACACACACATCGGATCCTACGGCCTGCTCTATAAAGCCATCTCGCTCCTGCCGCAAAACTCTAGCCACCCTCTCACCCTTTCCTTAGCCACCTCGCCCAAGTGCCAGGCCTGTAGCCTCTCATCAGCATCCCTGGGTGTCCCTGGCTGGGGCAGGTGACCCTCCATGCCTGTTGGGGAATGTCTGAATAACGTCACTGCTGGGGGATAGGGGAAGGGGGAAGGAGGGAGACGGGCCACAGAATGCACTTTGGGGCTCTGAGGCTGGGCCGGGCCCCGCCATGCTGGCCGCCCAAGCAGTCGACACTGGCGCTACTGCACTACCAGCCAGCCCCACCCGCTCATGCACCTCCCCCGGCCCGGGACGCAGAGGCCCCTGGAAGGTGGGGATGGGGGTCTGTGGATCTGGCCAGGGCTGGGGCTCCCATTGAGTTGGGGAGACCCCTTGTTCCCTCAGCCCACGCAGGAGCCCTTGTGCCTCCCTGGGTGCCAAGATCCCGAGACCCCAAAGTCCCCAGTGGGGTGCCTCTCAGGATGCACCTCACCCCAAAGCTCTCAGCTGCAACCCGAGTTCTCAGATGGGGAAATAAAGGCCCAGAGAGGGGAAGAGCTGGAGCGGTCATGCTCAGCTCCGGAAGCCTCCCTGGGCCCTCGCCCTCCAGCCCACGGCCTCATCTTCTGCACCCCACCCAACTCTGTCCCTGCCTAGAGCTGCAGCTGGAACTGTCCTGGGAATCGGCCCCAAGAGGAAAGGAAGCTGCCCCTCTGGGCAGGAGGGGCATTGGGAGTGGCCCCAGCAAGCAGCTTACCTAGCCCGTGACCTCCGATTGACACTGAGGTGAGAGGGCAGAGAGCAAGGAGAAAGGTCAGGTGAGTCACTCAAGGGGGCGGCCCCCACTCCCACACGCCGCCCCAAGCAGCGAGCCCTTGCACACAGGCACAACCCAAGCCCCGTGCCGAGCGCCGCAGCGGCCAACAGCGGGCGGGCTCACCTGTGACAGTGCACTTGCTGGCGTCCCCGGTGGGCACGGCACGCACGCGGTACGGGGAGAAGGGGATCTCGTCACCACCGTACTTGATGAGGATGGTGTAGCGACCTGTCACGTCTGGCACGTAGGCCACTGTATACGTGCCGTCATGGTTGTCTTGGATGTGTGTCTTCTTCGGCTTGCCTTCGGGATCCTGTGTGGCAGAGGCAGGGGAGGCAGTTGGCCCAAGCCCGAGTAGCCCCGGGCCTGCCTCAGGCGCTCCCAGAGTGCCCAGCGCTGCTGCTACAGGGACAGTCTCTGGGCCTCAGGCATCTTAACTGCTATGGCCCAAAAGGGCTGCCTGCACCTGGCAGAGTCCAGAATGGAGACTAAAACATCCCACACTTCCCACATGACAACAGGCGCGGCCAGCCAGCTTGGCACCCATCCTCAGCCCCAGGGCCTGGCCAGCACTAGGAGGAGCTCACCGGGGTGATCTCAAGCTTCTATCCTATACCTGCCCCATGAGAATATTACAGGTGGGGAAACTGAGGCACAGAAGGCTTTGGTGACGTGCTCAAAGTTAGCAGCAAGTGCACGTCTGGGGAAGCCTGTGCCTGTCACCACCATCCTAAGGTAGTCACAACCTTAGCAAACCAAAGACAGGGGCCCTGTCCTTCCCTGCCCTCCTTGGTGCAGCTCCGCAGGGAGATCAGACACCAGCCACCCGCAGCCCACACTCCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATACAGTACTGAGATGCTGTAGGGCCCTTCTCGGCTGGGCACATAATTGACGGTCTGGGTGCCATCAGCGTTGTCTACCACGTCCACTGGCTCCACCAGGCCTGGCCCCAGCCCCAGGGACAGAGCATCAGCTAGTCTCCTGGGCCTCCATTCCTACCCCACCACACTGGACGGCCAGGACCCAGCCCCAGGCCTAGACCTCGCTTTATCCTCATCCACCCGACCCTGGGAATGGCCTTGACCCCCTCTGGCACGAAAGACACCCATCTGGGTGCCAGCTGGGACCCTTGCCTGCCTGCCTTCCTGCCACATCTGCTCAGTGACCAGTCCCATCTGCTCTACCTCCTCCAAGTCCCCCACCTGGCTGCACTGTCACCTGAGGCTCTTCCAAAAACACCTACACACTTGCACCACCTCTGCACTCTGGTCCTCACTTTGGGCCTCCAGTTTCCTTTCCCGGCCCTCAAACAGGACACTGCCCTCCTGACCCCTGGCTCCAGGCATGCAAACACTCACCTTTGGGCCCTTGCACTTTGACCTGCAATGGGGCCACACCAGCCTTGCTTGTGTCCACCTGGAAGGACTGAGGGAGGTTGGCACGAACCATGCCTGGGCTCAGGCCGGGCCCAGAGCACTTGACCTTGGACGCATCTGTCACATCATGCACAGGGACCTTGAAAGGACTGCCTGAGGGTTGGGGCAAAGGGATGGCGGCTGTATGAGACAGGGTGGGGACGAGCAGACAGTCCCAGCCCTGCCCTGGCCGCCACCTCCTCACCTGGCACTTGATGGCCACCATAGGTGACGTTGAGGCTGTAGGTGCCAGCCTCATAAGGGATGTACTCGACCGAGCAGCTGCCGTCCTTGTTATCCATGCAGGACATCTTGGCCTCGGAGGGGCCCTCTACAGCCAGGCCCAGGCCGCCCGTGCCAGCTCCCCTGGTCCAAACAGACAGCCGGTCATTCCTGGGGTTCCCAGGCCCACCAGCCACACGGGCTCCTGGGGGCTCCCTTACCTGGTCTCCACAGTGAACTTGTTGGGCTTGTTGGTGGTGCCACTTTGGATGCCTGGCCCGTGGACACGCACCCGGGAGGGGTCGCAGCCCTCGGTCACGGGCACCTGGAAGGGGCTGCTGGGCACGGGACTGCCGTCATAGGTCACGTCCACGGAGTGCAGTCCTGGAGGAGTGCAGGCCAGGTCAGGAGGAGCCCGGG | AGAAGGCTCGCGGTGAAAAGCAGCCCGGTGCAGACAGGAGTGGGAGCGGGGAAGCGGGAGGCAGCGGGGTTAGCACCCGAGTAGCGCAGCGCAGCAGGCTTGGCAGAGCGGGGATAGCACCCAGGGAGACAGGGAACAGGAGGCCCAAGCTACAGCCACCACTGCTGGGTTGCGAGGGCAGAGCAGCTGAGCAGGCTCCAGGGCCCCAGAGTGCCCGAGGAAAGGGGAGAGACAGTGACGTTATGATCTGGGTCTCCGCCGTGGAGGCTTGGGGGGCTGTGGGCTGTGAGGCCTGGCAGTGAGAGTGCCCCCTGCAGCCTGGCCTCCTGCCAGGGAAGCAGCCAGGAGCACGAAACCTACTTGAAGGCCAAGCTCGAGGGGCCCTGCCACCAAGTCCCACTATCGGCCGAGGGCTCCTGCTGCACTAGGCTCCATGCTGGCCTGCCGCGGCCAGGCAGCTCTCCCAGGCTCCAGACCTGGCTGCCGGCTGCCCACGCTGCCCTGGGAGGCTTCACTCATGTGCACCCCATGCCATCTAGTTAGTGGCTTGGGCCCCAACCTCACAGGTACCCGACTGCCCCCACTTTCCCTGCCCGGCTCCCAGCCAACCGCAGGTCTCAGCCACTCCATCCTCAAAGTATGCCTCCTAATTTGGCTCTCACTGAAGCCCCGTGGCCGTCAAGCTTGCCAGAGAGCAACTTCAGCGCCCCCTTCCCCACCCCGGGCTCCCTGTCTCCATTCTGCAAACAGTAGCCAGGGAAACTGAGGTTACTGAGTCTTGCTCCCACCCTCAAAGCCCCCAAGGCCCTGCAATCAGTACTCCCCAGCCTCCCCCGCCCTGCGCACACACGCCTGTCACACACACATCGGATCCTACGGCCTGCTCTATAAAGCCATCTCGCTCCTGCCGCAAAACTCTAGCCACCCTCTCACCCTTTCCTTAGCCACCTCGCCCAAGTGCCAGGCCTGTAGCCTCTCATCAGCATCCCTGGGTGTCCCTGGCTGGGGCAGGTGACCCTCCATGCCTGTTGGGGAATGTCTGAATAACGTCACTGCTGGGGGATAGGGGAAGGGGGAAGGAGGGAGACGGGCCACAGAATGCACTTTGGGGCTCTGAGGCTGGGCCGGGCCCCGCCATGCTGGCCGCCCAAGCAGTCGACACTGGCGCTACTGCACTACCAGCCAGCCCCACCCGCTCATGCACCTCCCCCGGCCCGGGACGCAGAGGCCCCTGGAAGGTGGGGATGGGGGTCTGTGGATCTGGCCAGGGCTGGGGCTCCCATTGAGTTGGGGAGACCCCTTGTTCCCTCAGCCCACGCAGGAGCCCTTGTGCCTCCCTGGGTGCCAAGATCCCGAGACCCCAAAGTCCCCAGTGGGGTGCCTCTCAGGATGCACCTCACCCCAAAGCTCTCAGCTGCAACCCGAGTTCTCAGATGGGGAAATAAAGGCCCAGAGAGGGGAAGAGCTGGAGCGGTCATGCTCAGCTCCGGAAGCCTCCCTGGGCCCTCGCCCTCCAGCCCACGGCCTCATCTTCTGCACCCCACCCAACTCTGTCCCTGCCTAGAGCTGCAGCTGGAACTGTCCTGGGAATCGGCCCCAAGAGGAAAGGAAGCTGCCCCTCTGGGCAGGAGGGGCATTGGGAGTGGCCCCAGCAAGCAGCTTACCTAGCCCGTGACCTCCGATTGACACTGAGGTGAGAGGGCAGAGAGCAAGGAGAAAGGTCAGGTGAGTCACTCAAGGGGGCGGCCCCCACTCCCACACGCCGCCCCAAGCAGCGAGCCCTTGCACACAGGCACAACCCAAGCCCCGTGCCGAGCGCCGCAGCGGCCAACAGCGGGCGGGCTCACCTGTGACAGTGCACTTGCTGGCGTCCCCGGTGGGCACGGCACGCACGCGGTACGGGGAGAAGGGGATCTCGTCACCACCGTACTTGATGAGGATGGTGTAGCGACCTGTCACGTCTGGCACGTAGGCCACTGTATACGTGCCGTCATGGTTGTCTTGGATGTGTGTCTTCTTCGGCTTGCCTTCGGGATCCTGTGTGGCAGAGCAGGGGAGGCAGTTGGCCCAAGCCCGAGTAGCCCCGGGCCTGCCTCAGGCGCTCCCAGAGTGCCCAGCGCTGCTGCTACAGGGACAGTCTCTGGGCCTCAGGCATCTTAACTGCTATGGCCCAAAAGGGCTGCCTGCACCTGGCAGAGTCCAGAATGGAGACTAAAACATCCCACACTTCCCACATGACAACAGGCGCGGCCAGCCAGCTTGGCACCCATCCTCAGCCCCAGGGCCTGGCCAGCACTAGGAGGAGCTCACCGGGGTGATCTCAAGCTTCTATCCTATACCTGCCCCATGAGAATATTACAGGTGGGGAAACTGAGGCACAGAAGGCTTTGGTGACGTGCTCAAAGTTAGCAGCAAGTGCACGTCTGGGGAAGCCTGTGCCTGTCACCACCATCCTAAGGTAGTCACAACCTTAGCAAACCAAAGACAGGGGCCCTGTCCTTCCCTGCCCTCCTTGGTGCAGCTCCGCAGGGAGATCAGACACCAGCCACCCGCAGCCCACACTCCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATACAGTACTGAGATGCTGTAGGGCCCTTCTCGGCTGGGCACATAATTGACGGTCTGGGTGCCATCAGCGTTGTCTACCACGTCCACTGGCTCCACCAGGCCTGGCCCCAGCCCCAGGGACAGAGCATCAGCTAGTCTCCTGGGCCTCCATTCCTACCCCACCACACTGGACGGCCAGGACCCAGCCCCAGGCCTAGACCTCGCTTTATCCTCATCCACCCGACCCTGGGAATGGCCTTGACCCCCTCTGGCACGAAAGACACCCATCTGGGTGCCAGCTGGGACCCTTGCCTGCCTGCCTTCCTGCCACATCTGCTCAGTGACCAGTCCCATCTGCTCTACCTCCTCCAAGTCCCCCACCTGGCTGCACTGTCACCTGAGGCTCTTCCAAAAACACCTACACACTTGCACCACCTCTGCACTCTGGTCCTCACTTTGGGCCTCCAGTTTCCTTTCCCGGCCCTCAAACAGGACACTGCCCTCCTGACCCCTGGCTCCAGGCATGCAAACACTCACCTTTGGGCCCTTGCACTTTGACCTGCAATGGGGCCACACCAGCCTTGCTTGTGTCCACCTGGAAGGACTGAGGGAGGTTGGCACGAACCATGCCTGGGCTCAGGCCGGGCCCAGAGCACTTGACCTTGGACGCATCTGTCACATCATGCACAGGGACCTTGAAAGGACTGCCTGAGGGTTGGGGCAAAGGGATGGCGGCTGTATGAGACAGGGTGGGGACGAGCAGACAGTCCCAGCCCTGCCCTGGCCGCCACCTCCTCACCTGGCACTTGATGGCCACCATAGGTGACGTTGAGGCTGTAGGTGCCAGCCTCATAAGGGATGTACTCGACCGAGCAGCTGCCGTCCTTGTTATCCATGCAGGACATCTTGGCCTCGGAGGGGCCCTCTACAGCCAGGCCCAGGCCGCCCGTGCCAGCTCCCCTGGTCCAAACAGACAGCCGGTCATTCCTGGGGTTCCCAGGCCCACCAGCCACACGGGCTCCTGGGGGCTCCCTTACCTGGTCTCCACAGTGAACTTGTTGGGCTTGTTGGTGGTGCCACTTTGGATGCCTGGCCCGTGGACACGCACCCGGGAGGGGTCGCAGCCCTCGGTCACGGGCACCTGGAAGGGGCTGCTGGGCACGGGACTGCCGTCATAGGTCACGTCCACGGAGTGCAGTCCTGGAGGAGTGCAGGCCAGGTCAGGAGGAGCCCGGGN | benign | 341,762 |
Is the genetic change at chromosome X, position 154358180, within gene FLNA (filamin A) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiac_valvular_dysplasia,_X-linked'] | GCTTGGGCCCCAACCTCACAGGTACCCGACTGCCCCCACTTTCCCTGCCCGGCTCCCAGCCAACCGCAGGTCTCAGCCACTCCATCCTCAAAGTATGCCTCCTAATTTGGCTCTCACTGAAGCCCCGTGGCCGTCAAGCTTGCCAGAGAGCAACTTCAGCGCCCCCTTCCCCACCCCGGGCTCCCTGTCTCCATTCTGCAAACAGTAGCCAGGGAAACTGAGGTTACTGAGTCTTGCTCCCACCCTCAAAGCCCCCAAGGCCCTGCAATCAGTACTCCCCAGCCTCCCCCGCCCTGCGCACACACGCCTGTCACACACACATCGGATCCTACGGCCTGCTCTATAAAGCCATCTCGCTCCTGCCGCAAAACTCTAGCCACCCTCTCACCCTTTCCTTAGCCACCTCGCCCAAGTGCCAGGCCTGTAGCCTCTCATCAGCATCCCTGGGTGTCCCTGGCTGGGGCAGGTGACCCTCCATGCCTGTTGGGGAATGTCTGAATAACGTCACTGCTGGGGGATAGGGGAAGGGGGAAGGAGGGAGACGGGCCACAGAATGCACTTTGGGGCTCTGAGGCTGGGCCGGGCCCCGCCATGCTGGCCGCCCAAGCAGTCGACACTGGCGCTACTGCACTACCAGCCAGCCCCACCCGCTCATGCACCTCCCCCGGCCCGGGACGCAGAGGCCCCTGGAAGGTGGGGATGGGGGTCTGTGGATCTGGCCAGGGCTGGGGCTCCCATTGAGTTGGGGAGACCCCTTGTTCCCTCAGCCCACGCAGGAGCCCTTGTGCCTCCCTGGGTGCCAAGATCCCGAGACCCCAAAGTCCCCAGTGGGGTGCCTCTCAGGATGCACCTCACCCCAAAGCTCTCAGCTGCAACCCGAGTTCTCAGATGGGGAAATAAAGGCCCAGAGAGGGGAAGAGCTGGAGCGGTCATGCTCAGCTCCGGAAGCCTCCCTGGGCCCTCGCCCTCCAGCCCACGGCCTCATCTTCTGCACCCCACCCAACTCTGTCCCTGCCTAGAGCTGCAGCTGGAACTGTCCTGGGAATCGGCCCCAAGAGGAAAGGAAGCTGCCCCTCTGGGCAGGAGGGGCATTGGGAGTGGCCCCAGCAAGCAGCTTACCTAGCCCGTGACCTCCGATTGACACTGAGGTGAGAGGGCAGAGAGCAAGGAGAAAGGTCAGGTGAGTCACTCAAGGGGGCGGCCCCCACTCCCACACGCCGCCCCAAGCAGCGAGCCCTTGCACACAGGCACAACCCAAGCCCCGTGCCGAGCGCCGCAGCGGCCAACAGCGGGCGGGCTCACCTGTGACAGTGCACTTGCTGGCGTCCCCGGTGGGCACGGCACGCACGCGGTACGGGGAGAAGGGGATCTCGTCACCACCGTACTTGATGAGGATGGTGTAGCGACCTGTCACGTCTGGCACGTAGGCCACTGTATACGTGCCGTCATGGTTGTCTTGGATGTGTGTCTTCTTCGGCTTGCCTTCGGGATCCTGTGTGGCAGAGGCAGGGGAGGCAGTTGGCCCAAGCCCGAGTAGCCCCGGGCCTGCCTCAGGCGCTCCCAGAGTGCCCAGCGCTGCTGCTACAGGGACAGTCTCTGGGCCTCAGGCATCTTAACTGCTATGGCCCAAAAGGGCTGCCTGCACCTGGCAGAGTCCAGAATGGAGACTAAAACATCCCACACTTCCCACATGACAACAGGCGCGGCCAGCCAGCTTGGCACCCATCCTCAGCCCCAGGGCCTGGCCAGCACTAGGAGGAGCTCACCGGGGTGATCTCAAGCTTCTATCCTATACCTGCCCCATGAGAATATTACAGGTGGGGAAACTGAGGCACAGAAGGCTTTGGTGACGTGCTCAAAGTTAGCAGCAAGTGCACGTCTGGGGAAGCCTGTGCCTGTCACCACCATCCTAAGGTAGTCACAACCTTAGCAAACCAAAGACAGGGGCCCTGTCCTTCCCTGCCCTCCTTGGTGCAGCTCCGCAGGGAGATCAGACACCAGCCACCCGCAGCCCACACTCCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATACAGTACTGAGATGCTGTAGGGCCCTTCTCGGCTGGGCACATAATTGACGGTCTGGGTGCCATCAGCGTTGTCTACCACGTCCACTGGCTCCACCAGGCCTGGCCCCAGCCCCAGGGACAGAGCATCAGCTAGTCTCCTGGGCCTCCATTCCTACCCCACCACACTGGACGGCCAGGACCCAGCCCCAGGCCTAGACCTCGCTTTATCCTCATCCACCCGACCCTGGGAATGGCCTTGACCCCCTCTGGCACGAAAGACACCCATCTGGGTGCCAGCTGGGACCCTTGCCTGCCTGCCTTCCTGCCACATCTGCTCAGTGACCAGTCCCATCTGCTCTACCTCCTCCAAGTCCCCCACCTGGCTGCACTGTCACCTGAGGCTCTTCCAAAAACACCTACACACTTGCACCACCTCTGCACTCTGGTCCTCACTTTGGGCCTCCAGTTTCCTTTCCCGGCCCTCAAACAGGACACTGCCCTCCTGACCCCTGGCTCCAGGCATGCAAACACTCACCTTTGGGCCCTTGCACTTTGACCTGCAATGGGGCCACACCAGCCTTGCTTGTGTCCACCTGGAAGGACTGAGGGAGGTTGGCACGAACCATGCCTGGGCTCAGGCCGGGCCCAGAGCACTTGACCTTGGACGCATCTGTCACATCATGCACAGGGACCTTGAAAGGACTGCCTGAGGGTTGGGGCAAAGGGATGGCGGCTGTATGAGACAGGGTGGGGACGAGCAGACAGTCCCAGCCCTGCCCTGGCCGCCACCTCCTCACCTGGCACTTGATGGCCACCATAGGTGACGTTGAGGCTGTAGGTGCCAGCCTCATAAGGGATGTACTCGACCGAGCAGCTGCCGTCCTTGTTATCCATGCAGGACATCTTGGCCTCGGAGGGGCCCTCTACAGCCAGGCCCAGGCCGCCCGTGCCAGCTCCCCTGGTCCAAACAGACAGCCGGTCATTCCTGGGGTTCCCAGGCCCACCAGCCACACGGGCTCCTGGGGGCTCCCTTACCTGGTCTCCACAGTGAACTTGTTGGGCTTGTTGGTGGTGCCACTTTGGATGCCTGGCCCGTGGACACGCACCCGGGAGGGGTCGCAGCCCTCGGTCACGGGCACCTGGAAGGGGCTGCTGGGCACGGGACTGCCGTCATAGGTCACGTCCACGGAGTGCAGTCCTGGAGGAGTGCAGGCCAGGTCAGGAGGAGCCCGGGCCACCCCACCCACCCCGTCTGCCAGCCTGTGGGAGTCCCCAGCACGCACCCTCCTCGTAAGGCGTGTACTCCACTTTGTACATGCCATCGCCACGGTCCTGAACGTAGGTCTCCGTCAGGTTGCCTGAGGGGTTGGCCACACGGGCCTTGACGTGCGGCCCTCCGGTCTGTGTCAGAGCCCGGGCGTCCACACTGAACTCAGTGGTGGCCTCACGGAAGACACCTGCAAAGGCACAGAGAGGAGGCTTGGGGCTCGGGGGTTCTGGTCCCTGTCCCCCGTCACATACCCCACGGCAGGGCAACTCACCCTGGCCCTCAATACCAGGCCCATAGCACTGGACACCGGAAGTGTCCACCGCAGGTTCCACCTGCAGCTTGCTGGGGAAGTTGGGCACGGGCTGGCCGCCGTACTTGATGGTGACGGTGTAGGCCCCGGGGCAGAGGGGAATGTAGGTAATGGTGTGCGTGCCATCACCGTGGTCCTGGATGTACACCTCGGCCGGAAGCCCCGCCTCCGAGCAGATCTCAATGGTCAGCTCCGCGCT | GCTTGGGCCCCAACCTCACAGGTACCCGACTGCCCCCACTTTCCCTGCCCGGCTCCCAGCCAACCGCAGGTCTCAGCCACTCCATCCTCAAAGTATGCCTCCTAATTTGGCTCTCACTGAAGCCCCGTGGCCGTCAAGCTTGCCAGAGAGCAACTTCAGCGCCCCCTTCCCCACCCCGGGCTCCCTGTCTCCATTCTGCAAACAGTAGCCAGGGAAACTGAGGTTACTGAGTCTTGCTCCCACCCTCAAAGCCCCCAAGGCCCTGCAATCAGTACTCCCCAGCCTCCCCCGCCCTGCGCACACACGCCTGTCACACACACATCGGATCCTACGGCCTGCTCTATAAAGCCATCTCGCTCCTGCCGCAAAACTCTAGCCACCCTCTCACCCTTTCCTTAGCCACCTCGCCCAAGTGCCAGGCCTGTAGCCTCTCATCAGCATCCCTGGGTGTCCCTGGCTGGGGCAGGTGACCCTCCATGCCTGTTGGGGAATGTCTGAATAACGTCACTGCTGGGGGATAGGGGAAGGGGGAAGGAGGGAGACGGGCCACAGAATGCACTTTGGGGCTCTGAGGCTGGGCCGGGCCCCGCCATGCTGGCCGCCCAAGCAGTCGACACTGGCGCTACTGCACTACCAGCCAGCCCCACCCGCTCATGCACCTCCCCCGGCCCGGGACGCAGAGGCCCCTGGAAGGTGGGGATGGGGGTCTGTGGATCTGGCCAGGGCTGGGGCTCCCATTGAGTTGGGGAGACCCCTTGTTCCCTCAGCCCACGCAGGAGCCCTTGTGCCTCCCTGGGTGCCAAGATCCCGAGACCCCAAAGTCCCCAGTGGGGTGCCTCTCAGGATGCACCTCACCCCAAAGCTCTCAGCTGCAACCCGAGTTCTCAGATGGGGAAATAAAGGCCCAGAGAGGGGAAGAGCTGGAGCGGTCATGCTCAGCTCCGGAAGCCTCCCTGGGCCCTCGCCCTCCAGCCCACGGCCTCATCTTCTGCACCCCACCCAACTCTGTCCCTGCCTAGAGCTGCAGCTGGAACTGTCCTGGGAATCGGCCCCAAGAGGAAAGGAAGCTGCCCCTCTGGGCAGGAGGGGCATTGGGAGTGGCCCCAGCAAGCAGCTTACCTAGCCCGTGACCTCCGATTGACACTGAGGTGAGAGGGCAGAGAGCAAGGAGAAAGGTCAGGTGAGTCACTCAAGGGGGCGGCCCCCACTCCCACACGCCGCCCCAAGCAGCGAGCCCTTGCACACAGGCACAACCCAAGCCCCGTGCCGAGCGCCGCAGCGGCCAACAGCGGGCGGGCTCACCTGTGACAGTGCACTTGCTGGCGTCCCCGGTGGGCACGGCACGCACGCGGTACGGGGAGAAGGGGATCTCGTCACCACCGTACTTGATGAGGATGGTGTAGCGACCTGTCACGTCTGGCACGTAGGCCACTGTATACGTGCCGTCATGGTTGTCTTGGATGTGTGTCTTCTTCGGCTTGCCTTCGGGATCCTGTGTGGCAGAGGCAGGGGAGGCAGTTGGCCCAAGCCCGAGTAGCCCCGGGCCTGCCTCAGGCGCTCCCAGAGTGCCCAGCGCTGCTGCTACAGGGACAGTCTCTGGGCCTCAGGCATCTTAACTGCTATGGCCCAAAAGGGCTGCCTGCACCTGGCAGAGTCCAGAATGGAGACTAAAACATCCCACACTTCCCACATGACAACAGGCGCGGCCAGCCAGCTTGGCACCCATCCTCAGCCCCAGGGCCTGGCCAGCACTAGGAGGAGCTCACCGGGGTGATCTCAAGCTTCTATCCTATACCTGCCCCATGAGAATATTACAGGTGGGGAAACTGAGGCACAGAAGGCTTTGGTGACGTGCTCAAAGTTAGCAGCAAGTGCACGTCTGGGGAAGCCTGTGCCTGTCACCACCATCCTAAGGTAGTCACAACCTTAGCAAACCAAAGACAGGGGCCCTGTCCTTCCCTGCCCTCCTTGGTGCAGCTCCGCAGGGAGATCAGACACCAGCCACCCGCAGCCCACACTCCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATACAGTACTGAGATGCTGTAGGGCCCTTCTCGGCTGGGCACATAATTGACGGTCTGGGTGCCATCAGCGTTGTCTACCACGTCCACTGGCTCCACCAGGCCTGGCCCCAGCCCCAGGGACAGAGCATCAGCTAGTCTCCTGGGCCTCCATTCCTACCCCACCACACTGGACGGCCAGGACCCAGCCCCAGGCCTAGACCTCGCTTTATCCTCATCCACCCGACCCTGGGAATGGCCTTGACCCCCTCTGGCACGAAAGACACCCATCTGGGTGCCAGCTGGGACCCTTGCCTGCCTGCCTTCCTGCCACATCTGCTCAGTGACCAGTCCCATCTGCTCTACCTCCTCCAAGTCCCCCACCTGGCTGCACTGTCACCTGAGGCTCTTCCAAAAACACCTACACACTTGCACCACCTCTGCACTCTGGTCCTCACTTTGGGCCTCCAGTTTCCTTTCCCGGCCCTCAAACAGGACACTGCCCTCCTGACCCCTGGCTCCAGGCATGCAAACACTCACCTTTGGGCCCTTGCACTTTGACCTGCAATGGGGCCACACCAGCCTTGCTTGTGTCCACCTGGAAGGACTGAGGGAGGTTGGCACGAACCATGCCTGGGCTCAGGCCGGGCCCAGAGCACTTGACCTTGGACGCATCTGTCACATCATGCACAGGGACCTTGAAAGGACTGCCTGAGGGTTGGGGCAAAGGGATGGCGGCTGTATGAGACAGGGTGGGGACGAGCAGACAGTCCCAGCCCTGCCCTGGCCGCCACCTCCTCACCTGGCACTTGATGGCCACCATAGGTGACGTTGAGGCTGTAGGTGCCAGCCTCATAAGGGATGTACTCGACCGAGCAGCTGCCGTCCTTGTTATCCATGCAGGACATCTTGGCCTCGGAGGGGCCCTCTACAGCCAGGCCCAGGCCGCCCGTGCCAGCTCCCCTGGTCCAAACAGACAGCCGGTCATTCCTGGGGTTCCCAGGCCCACCAGCCACACGGGCTCCTGGGGGCTCCCTTACCTGGTCTCCACAGTGAACTTGTTGGGCTTGTTGGTGGTGCCACTTTGGATGCCTGGCCCGTGGACACGCACCCGGGAGGGGTCGCAGCCCTCGGTCACGGGCACCTGGAAGGGGCTGCTGGGCACGGGACTGCCGTCATAGGTCACGTCCACGGAGTGCAGTCCTGGAGGAGTGCAGGCCAGGTCAGGAGGAGCCCGGGCCACCCCACCCACCCCGTCTGCCAGCCTGTGGGAGTCCCCAGCACGCACCCTCCTCGTAAGGCGTGTACTCCACTTTGTACATGCCATCGCCACGGTCCTGAACGTAGGTCTCCGTCAGGTTGCCTGAGGGGTTGGCCACACGGGCCTTGACGTGCGGCCCTCCGGTCTGTGTCAGAGCCCGGGCGTCCACACTGAACTCAGTGGTGGCCTCACGGAAGACACCTGCAAAGGCACAGAGAGGAGGCTTGGGGCTCGGGGGTTCTGGTCCCTGTCCCCCGTCACATACCCCACGGCAGGGCAACTCACCCTGGCCCTCAATACCAGGCCCATAGCACTGGACACCGGAAGTGTCCACCGCAGGTTCCACCTGCAGCTTGCTGGGGAAGTTGGGCACGGGCTGGCCGCCGTACTTGATGGTGACGGTGTAGGCCCCGGGGCAGAGGGGAATGTAGGTAATGGTGTGCGTGCCATCACCGTGGTCCTGGATGTACACCTCGGCCGGAAGCCCCGCCTCCGAGCAGATCTCAATGGTCAGCTCCGCGCTNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 341,763 |
Evaluate the clinical significance of the mutation at chromosome X, position 154359010 in gene FLNA (filamin A): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Heterotopia,_periventricular,_X-linked_dominant'] | GGGTGCCTCTCAGGATGCACCTCACCCCAAAGCTCTCAGCTGCAACCCGAGTTCTCAGATGGGGAAATAAAGGCCCAGAGAGGGGAAGAGCTGGAGCGGTCATGCTCAGCTCCGGAAGCCTCCCTGGGCCCTCGCCCTCCAGCCCACGGCCTCATCTTCTGCACCCCACCCAACTCTGTCCCTGCCTAGAGCTGCAGCTGGAACTGTCCTGGGAATCGGCCCCAAGAGGAAAGGAAGCTGCCCCTCTGGGCAGGAGGGGCATTGGGAGTGGCCCCAGCAAGCAGCTTACCTAGCCCGTGACCTCCGATTGACACTGAGGTGAGAGGGCAGAGAGCAAGGAGAAAGGTCAGGTGAGTCACTCAAGGGGGCGGCCCCCACTCCCACACGCCGCCCCAAGCAGCGAGCCCTTGCACACAGGCACAACCCAAGCCCCGTGCCGAGCGCCGCAGCGGCCAACAGCGGGCGGGCTCACCTGTGACAGTGCACTTGCTGGCGTCCCCGGTGGGCACGGCACGCACGCGGTACGGGGAGAAGGGGATCTCGTCACCACCGTACTTGATGAGGATGGTGTAGCGACCTGTCACGTCTGGCACGTAGGCCACTGTATACGTGCCGTCATGGTTGTCTTGGATGTGTGTCTTCTTCGGCTTGCCTTCGGGATCCTGTGTGGCAGAGGCAGGGGAGGCAGTTGGCCCAAGCCCGAGTAGCCCCGGGCCTGCCTCAGGCGCTCCCAGAGTGCCCAGCGCTGCTGCTACAGGGACAGTCTCTGGGCCTCAGGCATCTTAACTGCTATGGCCCAAAAGGGCTGCCTGCACCTGGCAGAGTCCAGAATGGAGACTAAAACATCCCACACTTCCCACATGACAACAGGCGCGGCCAGCCAGCTTGGCACCCATCCTCAGCCCCAGGGCCTGGCCAGCACTAGGAGGAGCTCACCGGGGTGATCTCAAGCTTCTATCCTATACCTGCCCCATGAGAATATTACAGGTGGGGAAACTGAGGCACAGAAGGCTTTGGTGACGTGCTCAAAGTTAGCAGCAAGTGCACGTCTGGGGAAGCCTGTGCCTGTCACCACCATCCTAAGGTAGTCACAACCTTAGCAAACCAAAGACAGGGGCCCTGTCCTTCCCTGCCCTCCTTGGTGCAGCTCCGCAGGGAGATCAGACACCAGCCACCCGCAGCCCACACTCCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATACAGTACTGAGATGCTGTAGGGCCCTTCTCGGCTGGGCACATAATTGACGGTCTGGGTGCCATCAGCGTTGTCTACCACGTCCACTGGCTCCACCAGGCCTGGCCCCAGCCCCAGGGACAGAGCATCAGCTAGTCTCCTGGGCCTCCATTCCTACCCCACCACACTGGACGGCCAGGACCCAGCCCCAGGCCTAGACCTCGCTTTATCCTCATCCACCCGACCCTGGGAATGGCCTTGACCCCCTCTGGCACGAAAGACACCCATCTGGGTGCCAGCTGGGACCCTTGCCTGCCTGCCTTCCTGCCACATCTGCTCAGTGACCAGTCCCATCTGCTCTACCTCCTCCAAGTCCCCCACCTGGCTGCACTGTCACCTGAGGCTCTTCCAAAAACACCTACACACTTGCACCACCTCTGCACTCTGGTCCTCACTTTGGGCCTCCAGTTTCCTTTCCCGGCCCTCAAACAGGACACTGCCCTCCTGACCCCTGGCTCCAGGCATGCAAACACTCACCTTTGGGCCCTTGCACTTTGACCTGCAATGGGGCCACACCAGCCTTGCTTGTGTCCACCTGGAAGGACTGAGGGAGGTTGGCACGAACCATGCCTGGGCTCAGGCCGGGCCCAGAGCACTTGACCTTGGACGCATCTGTCACATCATGCACAGGGACCTTGAAAGGACTGCCTGAGGGTTGGGGCAAAGGGATGGCGGCTGTATGAGACAGGGTGGGGACGAGCAGACAGTCCCAGCCCTGCCCTGGCCGCCACCTCCTCACCTGGCACTTGATGGCCACCATAGGTGACGTTGAGGCTGTAGGTGCCAGCCTCATAAGGGATGTACTCGACCGAGCAGCTGCCGTCCTTGTTATCCATGCAGGACATCTTGGCCTCGGAGGGGCCCTCTACAGCCAGGCCCAGGCCGCCCGTGCCAGCTCCCCTGGTCCAAACAGACAGCCGGTCATTCCTGGGGTTCCCAGGCCCACCAGCCACACGGGCTCCTGGGGGCTCCCTTACCTGGTCTCCACAGTGAACTTGTTGGGCTTGTTGGTGGTGCCACTTTGGATGCCTGGCCCGTGGACACGCACCCGGGAGGGGTCGCAGCCCTCGGTCACGGGCACCTGGAAGGGGCTGCTGGGCACGGGACTGCCGTCATAGGTCACGTCCACGGAGTGCAGTCCTGGAGGAGTGCAGGCCAGGTCAGGAGGAGCCCGGGCCACCCCACCCACCCCGTCTGCCAGCCTGTGGGAGTCCCCAGCACGCACCCTCCTCGTAAGGCGTGTACTCCACTTTGTACATGCCATCGCCACGGTCCTGAACGTAGGTCTCCGTCAGGTTGCCTGAGGGGTTGGCCACACGGGCCTTGACGTGCGGCCCTCCGGTCTGTGTCAGAGCCCGGGCGTCCACACTGAACTCAGTGGTGGCCTCACGGAAGACACCTGCAAAGGCACAGAGAGGAGGCTTGGGGCTCGGGGGTTCTGGTCCCTGTCCCCCGTCACATACCCCACGGCAGGGCAACTCACCCTGGCCCTCAATACCAGGCCCATAGCACTGGACACCGGAAGTGTCCACCGCAGGTTCCACCTGCAGCTTGCTGGGGAAGTTGGGCACGGGCTGGCCGCCGTACTTGATGGTGACGGTGTAGGCCCCGGGGCAGAGGGGAATGTAGGTAATGGTGTGCGTGCCATCACCGTGGTCCTGGATGTACACCTCGGCCGGAAGCCCCGCCTCCGAGCAGATCTCAATGGTCAGCTCCGCGCTGCCCGCGCTCGAGCAGTCCACTTGGAATTGGCCCACCTCCCCAGCGGTGGCCCGCTCCAGCCCGGGGCCTGAGCACTTGACTTTGGATGCGTCAAAGCAGGGAACCACGTGGGCCTTGAATGGGGAGCCAGGGATGTGGGTGTCAGCGAAGAGGATGTTGATGTTGTAGTCCCCGGGCTCGGTGGGCACGTAGGACACGGAACATGTGCCATCCCCATTGTCCAAGCACTCGAGCTGCGCCTCACAGGGGCCCTCCACCGTCAGGCCCAGGCCACCTGTGCCGGCGCCCTTGGTGTCGATGGTGAAGCGGGCGGGGGAGCCCGCACTGCCTCCCTGCAGCCCCGGCCCAAACGCCTTCACCTGAGGGAAGAAGGGGTCAGGAGCCAAGGCCACACTATGCCCCGATCCCAGACCTCCTGCTTGACTTTCCACCTGCCTCCCCTTGCCCTGGCTTCCTGCCCTCACCAAACAGGGACACGGGCGGGCCCAGGCTGCCTGCCAGATGGGCCATCCATCAGTCATAAGGACAAAAAGGAGGGCAGGGCGCGGTCACTCACGCCTGTAATCTCAGCCCTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAATCTCGTCTCTACTAAAATTACCAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGTATTGCTTGAAGCCAGGAGGCGGAGGGTGCCGTGAGCCAATATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTTTCTCAAAAAAAAAAA | GGGTGCCTCTCAGGATGCACCTCACCCCAAAGCTCTCAGCTGCAACCCGAGTTCTCAGATGGGGAAATAAAGGCCCAGAGAGGGGAAGAGCTGGAGCGGTCATGCTCAGCTCCGGAAGCCTCCCTGGGCCCTCGCCCTCCAGCCCACGGCCTCATCTTCTGCACCCCACCCAACTCTGTCCCTGCCTAGAGCTGCAGCTGGAACTGTCCTGGGAATCGGCCCCAAGAGGAAAGGAAGCTGCCCCTCTGGGCAGGAGGGGCATTGGGAGTGGCCCCAGCAAGCAGCTTACCTAGCCCGTGACCTCCGATTGACACTGAGGTGAGAGGGCAGAGAGCAAGGAGAAAGGTCAGGTGAGTCACTCAAGGGGGCGGCCCCCACTCCCACACGCCGCCCCAAGCAGCGAGCCCTTGCACACAGGCACAACCCAAGCCCCGTGCCGAGCGCCGCAGCGGCCAACAGCGGGCGGGCTCACCTGTGACAGTGCACTTGCTGGCGTCCCCGGTGGGCACGGCACGCACGCGGTACGGGGAGAAGGGGATCTCGTCACCACCGTACTTGATGAGGATGGTGTAGCGACCTGTCACGTCTGGCACGTAGGCCACTGTATACGTGCCGTCATGGTTGTCTTGGATGTGTGTCTTCTTCGGCTTGCCTTCGGGATCCTGTGTGGCAGAGGCAGGGGAGGCAGTTGGCCCAAGCCCGAGTAGCCCCGGGCCTGCCTCAGGCGCTCCCAGAGTGCCCAGCGCTGCTGCTACAGGGACAGTCTCTGGGCCTCAGGCATCTTAACTGCTATGGCCCAAAAGGGCTGCCTGCACCTGGCAGAGTCCAGAATGGAGACTAAAACATCCCACACTTCCCACATGACAACAGGCGCGGCCAGCCAGCTTGGCACCCATCCTCAGCCCCAGGGCCTGGCCAGCACTAGGAGGAGCTCACCGGGGTGATCTCAAGCTTCTATCCTATACCTGCCCCATGAGAATATTACAGGTGGGGAAACTGAGGCACAGAAGGCTTTGGTGACGTGCTCAAAGTTAGCAGCAAGTGCACGTCTGGGGAAGCCTGTGCCTGTCACCACCATCCTAAGGTAGTCACAACCTTAGCAAACCAAAGACAGGGGCCCTGTCCTTCCCTGCCCTCCTTGGTGCAGCTCCGCAGGGAGATCAGACACCAGCCACCCGCAGCCCACACTCCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATACAGTACTGAGATGCTGTAGGGCCCTTCTCGGCTGGGCACATAATTGACGGTCTGGGTGCCATCAGCGTTGTCTACCACGTCCACTGGCTCCACCAGGCCTGGCCCCAGCCCCAGGGACAGAGCATCAGCTAGTCTCCTGGGCCTCCATTCCTACCCCACCACACTGGACGGCCAGGACCCAGCCCCAGGCCTAGACCTCGCTTTATCCTCATCCACCCGACCCTGGGAATGGCCTTGACCCCCTCTGGCACGAAAGACACCCATCTGGGTGCCAGCTGGGACCCTTGCCTGCCTGCCTTCCTGCCACATCTGCTCAGTGACCAGTCCCATCTGCTCTACCTCCTCCAAGTCCCCCACCTGGCTGCACTGTCACCTGAGGCTCTTCCAAAAACACCTACACACTTGCACCACCTCTGCACTCTGGTCCTCACTTTGGGCCTCCAGTTTCCTTTCCCGGCCCTCAAACAGGACACTGCCCTCCTGACCCCTGGCTCCAGGCATGCAAACACTCACCTTTGGGCCCTTGCACTTTGACCTGCAATATGGGGCCACACCAGCCTTGCTTGTGTCCACCTGGAAGGACTGAGGGAGGTTGGCACGAACCATGCCTGGGCTCAGGCCGGGCCCAGAGCACTTGACCTTGGACGCATCTGTCACATCATGCACAGGGACCTTGAAAGGACTGCCTGAGGGTTGGGGCAAAGGGATGGCGGCTGTATGAGACAGGGTGGGGACGAGCAGACAGTCCCAGCCCTGCCCTGGCCGCCACCTCCTCACCTGGCACTTGATGGCCACCATAGGTGACGTTGAGGCTGTAGGTGCCAGCCTCATAAGGGATGTACTCGACCGAGCAGCTGCCGTCCTTGTTATCCATGCAGGACATCTTGGCCTCGGAGGGGCCCTCTACAGCCAGGCCCAGGCCGCCCGTGCCAGCTCCCCTGGTCCAAACAGACAGCCGGTCATTCCTGGGGTTCCCAGGCCCACCAGCCACACGGGCTCCTGGGGGCTCCCTTACCTGGTCTCCACAGTGAACTTGTTGGGCTTGTTGGTGGTGCCACTTTGGATGCCTGGCCCGTGGACACGCACCCGGGAGGGGTCGCAGCCCTCGGTCACGGGCACCTGGAAGGGGCTGCTGGGCACGGGACTGCCGTCATAGGTCACGTCCACGGAGTGCAGTCCTGGAGGAGTGCAGGCCAGGTCAGGAGGAGCCCGGGCCACCCCACCCACCCCGTCTGCCAGCCTGTGGGAGTCCCCAGCACGCACCCTCCTCGTAAGGCGTGTACTCCACTTTGTACATGCCATCGCCACGGTCCTGAACGTAGGTCTCCGTCAGGTTGCCTGAGGGGTTGGCCACACGGGCCTTGACGTGCGGCCCTCCGGTCTGTGTCAGAGCCCGGGCGTCCACACTGAACTCAGTGGTGGCCTCACGGAAGACACCTGCAAAGGCACAGAGAGGAGGCTTGGGGCTCGGGGGTTCTGGTCCCTGTCCCCCGTCACATACCCCACGGCAGGGCAACTCACCCTGGCCCTCAATACCAGGCCCATAGCACTGGACACCGGAAGTGTCCACCGCAGGTTCCACCTGCAGCTTGCTGGGGAAGTTGGGCACGGGCTGGCCGCCGTACTTGATGGTGACGGTGTAGGCCCCGGGGCAGAGGGGAATGTAGGTAATGGTGTGCGTGCCATCACCGTGGTCCTGGATGTACACCTCGGCCGGAAGCCCCGCCTCCGAGCAGATCTCAATGGTCAGCTCCGCGCTGCCCGCGCTCGAGCAGTCCACTTGGAATTGGCCCACCTCCCCAGCGGTGGCCCGCTCCAGCCCGGGGCCTGAGCACTTGACTTTGGATGCGTCAAAGCAGGGAACCACGTGGGCCTTGAATGGGGAGCCAGGGATGTGGGTGTCAGCGAAGAGGATGTTGATGTTGTAGTCCCCGGGCTCGGTGGGCACGTAGGACACGGAACATGTGCCATCCCCATTGTCCAAGCACTCGAGCTGCGCCTCACAGGGGCCCTCCACCGTCAGGCCCAGGCCACCTGTGCCGGCGCCCTTGGTGTCGATGGTGAAGCGGGCGGGGGAGCCCGCACTGCCTCCCTGCAGCCCCGGCCCAAACGCCTTCACCTGAGGGAAGAAGGGGTCAGGAGCCAAGGCCACACTATGCCCCGATCCCAGACCTCCTGCTTGACTTTCCACCTGCCTCCCCTTGCCCTGGCTTCCTGCCCTCACCAAACAGGGACACGGGCGGGCCCAGGCTGCCTGCCAGATGGGCCATCCATCAGTCATAAGGACAAAAAGGAGGGCAGGGCGCGGTCACTCACGCCTGTAATCTCAGCCCTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAATCTCGTCTCTACTAAAATTACCAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGTATTGCTTGAAGCCAGGAGGCGGAGGGTGCCGTGAGCCAATATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTTTCTCAAAAAAAAA | pathogenic | 341,799 |
Variant on chromosome X, at position 154359469, affecting FLNA (filamin A): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CGGGCGGGCTCACCTGTGACAGTGCACTTGCTGGCGTCCCCGGTGGGCACGGCACGCACGCGGTACGGGGAGAAGGGGATCTCGTCACCACCGTACTTGATGAGGATGGTGTAGCGACCTGTCACGTCTGGCACGTAGGCCACTGTATACGTGCCGTCATGGTTGTCTTGGATGTGTGTCTTCTTCGGCTTGCCTTCGGGATCCTGTGTGGCAGAGGCAGGGGAGGCAGTTGGCCCAAGCCCGAGTAGCCCCGGGCCTGCCTCAGGCGCTCCCAGAGTGCCCAGCGCTGCTGCTACAGGGACAGTCTCTGGGCCTCAGGCATCTTAACTGCTATGGCCCAAAAGGGCTGCCTGCACCTGGCAGAGTCCAGAATGGAGACTAAAACATCCCACACTTCCCACATGACAACAGGCGCGGCCAGCCAGCTTGGCACCCATCCTCAGCCCCAGGGCCTGGCCAGCACTAGGAGGAGCTCACCGGGGTGATCTCAAGCTTCTATCCTATACCTGCCCCATGAGAATATTACAGGTGGGGAAACTGAGGCACAGAAGGCTTTGGTGACGTGCTCAAAGTTAGCAGCAAGTGCACGTCTGGGGAAGCCTGTGCCTGTCACCACCATCCTAAGGTAGTCACAACCTTAGCAAACCAAAGACAGGGGCCCTGTCCTTCCCTGCCCTCCTTGGTGCAGCTCCGCAGGGAGATCAGACACCAGCCACCCGCAGCCCACACTCCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATACAGTACTGAGATGCTGTAGGGCCCTTCTCGGCTGGGCACATAATTGACGGTCTGGGTGCCATCAGCGTTGTCTACCACGTCCACTGGCTCCACCAGGCCTGGCCCCAGCCCCAGGGACAGAGCATCAGCTAGTCTCCTGGGCCTCCATTCCTACCCCACCACACTGGACGGCCAGGACCCAGCCCCAGGCCTAGACCTCGCTTTATCCTCATCCACCCGACCCTGGGAATGGCCTTGACCCCCTCTGGCACGAAAGACACCCATCTGGGTGCCAGCTGGGACCCTTGCCTGCCTGCCTTCCTGCCACATCTGCTCAGTGACCAGTCCCATCTGCTCTACCTCCTCCAAGTCCCCCACCTGGCTGCACTGTCACCTGAGGCTCTTCCAAAAACACCTACACACTTGCACCACCTCTGCACTCTGGTCCTCACTTTGGGCCTCCAGTTTCCTTTCCCGGCCCTCAAACAGGACACTGCCCTCCTGACCCCTGGCTCCAGGCATGCAAACACTCACCTTTGGGCCCTTGCACTTTGACCTGCAATGGGGCCACACCAGCCTTGCTTGTGTCCACCTGGAAGGACTGAGGGAGGTTGGCACGAACCATGCCTGGGCTCAGGCCGGGCCCAGAGCACTTGACCTTGGACGCATCTGTCACATCATGCACAGGGACCTTGAAAGGACTGCCTGAGGGTTGGGGCAAAGGGATGGCGGCTGTATGAGACAGGGTGGGGACGAGCAGACAGTCCCAGCCCTGCCCTGGCCGCCACCTCCTCACCTGGCACTTGATGGCCACCATAGGTGACGTTGAGGCTGTAGGTGCCAGCCTCATAAGGGATGTACTCGACCGAGCAGCTGCCGTCCTTGTTATCCATGCAGGACATCTTGGCCTCGGAGGGGCCCTCTACAGCCAGGCCCAGGCCGCCCGTGCCAGCTCCCCTGGTCCAAACAGACAGCCGGTCATTCCTGGGGTTCCCAGGCCCACCAGCCACACGGGCTCCTGGGGGCTCCCTTACCTGGTCTCCACAGTGAACTTGTTGGGCTTGTTGGTGGTGCCACTTTGGATGCCTGGCCCGTGGACACGCACCCGGGAGGGGTCGCAGCCCTCGGTCACGGGCACCTGGAAGGGGCTGCTGGGCACGGGACTGCCGTCATAGGTCACGTCCACGGAGTGCAGTCCTGGAGGAGTGCAGGCCAGGTCAGGAGGAGCCCGGGCCACCCCACCCACCCCGTCTGCCAGCCTGTGGGAGTCCCCAGCACGCACCCTCCTCGTAAGGCGTGTACTCCACTTTGTACATGCCATCGCCACGGTCCTGAACGTAGGTCTCCGTCAGGTTGCCTGAGGGGTTGGCCACACGGGCCTTGACGTGCGGCCCTCCGGTCTGTGTCAGAGCCCGGGCGTCCACACTGAACTCAGTGGTGGCCTCACGGAAGACACCTGCAAAGGCACAGAGAGGAGGCTTGGGGCTCGGGGGTTCTGGTCCCTGTCCCCCGTCACATACCCCACGGCAGGGCAACTCACCCTGGCCCTCAATACCAGGCCCATAGCACTGGACACCGGAAGTGTCCACCGCAGGTTCCACCTGCAGCTTGCTGGGGAAGTTGGGCACGGGCTGGCCGCCGTACTTGATGGTGACGGTGTAGGCCCCGGGGCAGAGGGGAATGTAGGTAATGGTGTGCGTGCCATCACCGTGGTCCTGGATGTACACCTCGGCCGGAAGCCCCGCCTCCGAGCAGATCTCAATGGTCAGCTCCGCGCTGCCCGCGCTCGAGCAGTCCACTTGGAATTGGCCCACCTCCCCAGCGGTGGCCCGCTCCAGCCCGGGGCCTGAGCACTTGACTTTGGATGCGTCAAAGCAGGGAACCACGTGGGCCTTGAATGGGGAGCCAGGGATGTGGGTGTCAGCGAAGAGGATGTTGATGTTGTAGTCCCCGGGCTCGGTGGGCACGTAGGACACGGAACATGTGCCATCCCCATTGTCCAAGCACTCGAGCTGCGCCTCACAGGGGCCCTCCACCGTCAGGCCCAGGCCACCTGTGCCGGCGCCCTTGGTGTCGATGGTGAAGCGGGCGGGGGAGCCCGCACTGCCTCCCTGCAGCCCCGGCCCAAACGCCTTCACCTGAGGGAAGAAGGGGTCAGGAGCCAAGGCCACACTATGCCCCGATCCCAGACCTCCTGCTTGACTTTCCACCTGCCTCCCCTTGCCCTGGCTTCCTGCCCTCACCAAACAGGGACACGGGCGGGCCCAGGCTGCCTGCCAGATGGGCCATCCATCAGTCATAAGGACAAAAAGGAGGGCAGGGCGCGGTCACTCACGCCTGTAATCTCAGCCCTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAATCTCGTCTCTACTAAAATTACCAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGTATTGCTTGAAGCCAGGAGGCGGAGGGTGCCGTGAGCCAATATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAGAAATTCTTCAACCCTGATGACTTTTTGTGGGTTTCTATTTCCCTCCTCCCCTTTACTCTCACTTAAACAGGGTCAAGGTTGACAGTCTGTCTCAGGAAAAAAAAAAAAAAAAAAGGATTTAGGGCAGGTCTGGAGAAGATGGGGTACCTTTGGGGCCCTCAGAGAGCACAGTGGGTTCTACCCTTAGGGCCTCCCATACCCCAATTACCTTGCTAGGCTTGGTGGGGGCCACAGCTTCCAGAGGAAAGGGGCTGCCAGGCACGGGCACGCCGTCATAGGTCACCTCCACCTCATAGGGCCCTTCCTCACGGGGCAGGAAGCGCACCACACTGTTGTCAGCCCCCAGGCCTGGCTCCACCTTGCAGGGCACCGCTGCACCCGAGGGGCCCACAATCTTGGATGCCACTTTGCCTTGAC | CGGGCGGGCTCACCTGTGACAGTGCACTTGCTGGCGTCCCCGGTGGGCACGGCACGCACGCGGTACGGGGAGAAGGGGATCTCGTCACCACCGTACTTGATGAGGATGGTGTAGCGACCTGTCACGTCTGGCACGTAGGCCACTGTATACGTGCCGTCATGGTTGTCTTGGATGTGTGTCTTCTTCGGCTTGCCTTCGGGATCCTGTGTGGCAGAGGCAGGGGAGGCAGTTGGCCCAAGCCCGAGTAGCCCCGGGCCTGCCTCAGGCGCTCCCAGAGTGCCCAGCGCTGCTGCTACAGGGACAGTCTCTGGGCCTCAGGCATCTTAACTGCTATGGCCCAAAAGGGCTGCCTGCACCTGGCAGAGTCCAGAATGGAGACTAAAACATCCCACACTTCCCACATGACAACAGGCGCGGCCAGCCAGCTTGGCACCCATCCTCAGCCCCAGGGCCTGGCCAGCACTAGGAGGAGCTCACCGGGGTGATCTCAAGCTTCTATCCTATACCTGCCCCATGAGAATATTACAGGTGGGGAAACTGAGGCACAGAAGGCTTTGGTGACGTGCTCAAAGTTAGCAGCAAGTGCACGTCTGGGGAAGCCTGTGCCTGTCACCACCATCCTAAGGTAGTCACAACCTTAGCAAACCAAAGACAGGGGCCCTGTCCTTCCCTGCCCTCCTTGGTGCAGCTCCGCAGGGAGATCAGACACCAGCCACCCGCAGCCCACACTCCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATACAGTACTGAGATGCTGTAGGGCCCTTCTCGGCTGGGCACATAATTGACGGTCTGGGTGCCATCAGCGTTGTCTACCACGTCCACTGGCTCCACCAGGCCTGGCCCCAGCCCCAGGGACAGAGCATCAGCTAGTCTCCTGGGCCTCCATTCCTACCCCACCACACTGGACGGCCAGGACCCAGCCCCAGGCCTAGACCTCGCTTTATCCTCATCCACCCGACCCTGGGAATGGCCTTGACCCCCTCTGGCACGAAAGACACCCATCTGGGTGCCAGCTGGGACCCTTGCCTGCCTGCCTTCCTGCCACATCTGCTCAGTGACCAGTCCCATCTGCTCTACCTCCTCCAAGTCCCCCACCTGGCTGCACTGTCACCTGAGGCTCTTCCAAAAACACCTACACACTTGCACCACCTCTGCACTCTGGTCCTCACTTTGGGCCTCCAGTTTCCTTTCCCGGCCCTCAAACAGGACACTGCCCTCCTGACCCCTGGCTCCAGGCATGCAAACACTCACCTTTGGGCCCTTGCACTTTGACCTGCAATGGGGCCACACCAGCCTTGCTTGTGTCCACCTGGAAGGACTGAGGGAGGTTGGCACGAACCATGCCTGGGCTCAGGCCGGGCCCAGAGCACTTGACCTTGGACGCATCTGTCACATCATGCACAGGGACCTTGAAAGGACTGCCTGAGGGTTGGGGCAAAGGGATGGCGGCTGTATGAGACAGGGTGGGGACGAGCAGACAGTCCCAGCCCTGCCCTGGCCGCCACCTCCTCACCTGGCACTTGATGGCCACCATAGGTGACGTTGAGGCTGTAGGTGCCAGCCTCATAAGGGATGTACTCGACCGAGCAGCTGCCGTCCTTGTTATCCATGCAGGACATCTTGGCCTCGGAGGGGCCCTCTACAGCCAGGCCCAGGCCGCCCGTGCCAGCTCCCCTGGTCCAAACAGACAGCCGGTCATTCCTGGGGTTCCCAGGCCCACCAGCCACACGGGCTCCTGGGGGCTCCCGGGGGCTCCCTTACCTGGTCTCCACAGTGAACTTGTTGGGCTTGTTGGTGGTGCCACTTTGGATGCCTGGCCCGTGGACACGCACCCGGGAGGGGTCGCAGCCCTCGGTCACGGGCACCTGGAAGGGGCTGCTGGGCACGGGACTGCCGTCATAGGTCACGTCCACGGAGTGCAGTCCTGGAGGAGTGCAGGCCAGGTCAGGAGGAGCCCGGGCCACCCCACCCACCCCGTCTGCCAGCCTGTGGGAGTCCCCAGCACGCACCCTCCTCGTAAGGCGTGTACTCCACTTTGTACATGCCATCGCCACGGTCCTGAACGTAGGTCTCCGTCAGGTTGCCTGAGGGGTTGGCCACACGGGCCTTGACGTGCGGCCCTCCGGTCTGTGTCAGAGCCCGGGCGTCCACACTGAACTCAGTGGTGGCCTCACGGAAGACACCTGCAAAGGCACAGAGAGGAGGCTTGGGGCTCGGGGGTTCTGGTCCCTGTCCCCCGTCACATACCCCACGGCAGGGCAACTCACCCTGGCCCTCAATACCAGGCCCATAGCACTGGACACCGGAAGTGTCCACCGCAGGTTCCACCTGCAGCTTGCTGGGGAAGTTGGGCACGGGCTGGCCGCCGTACTTGATGGTGACGGTGTAGGCCCCGGGGCAGAGGGGAATGTAGGTAATGGTGTGCGTGCCATCACCGTGGTCCTGGATGTACACCTCGGCCGGAAGCCCCGCCTCCGAGCAGATCTCAATGGTCAGCTCCGCGCTGCCCGCGCTCGAGCAGTCCACTTGGAATTGGCCCACCTCCCCAGCGGTGGCCCGCTCCAGCCCGGGGCCTGAGCACTTGACTTTGGATGCGTCAAAGCAGGGAACCACGTGGGCCTTGAATGGGGAGCCAGGGATGTGGGTGTCAGCGAAGAGGATGTTGATGTTGTAGTCCCCGGGCTCGGTGGGCACGTAGGACACGGAACATGTGCCATCCCCATTGTCCAAGCACTCGAGCTGCGCCTCACAGGGGCCCTCCACCGTCAGGCCCAGGCCACCTGTGCCGGCGCCCTTGGTGTCGATGGTGAAGCGGGCGGGGGAGCCCGCACTGCCTCCCTGCAGCCCCGGCCCAAACGCCTTCACCTGAGGGAAGAAGGGGTCAGGAGCCAAGGCCACACTATGCCCCGATCCCAGACCTCCTGCTTGACTTTCCACCTGCCTCCCCTTGCCCTGGCTTCCTGCCCTCACCAAACAGGGACACGGGCGGGCCCAGGCTGCCTGCCAGATGGGCCATCCATCAGTCATAAGGACAAAAAGGAGGGCAGGGCGCGGTCACTCACGCCTGTAATCTCAGCCCTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAATCTCGTCTCTACTAAAATTACCAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGTATTGCTTGAAGCCAGGAGGCGGAGGGTGCCGTGAGCCAATATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAGAAATTCTTCAACCCTGATGACTTTTTGTGGGTTTCTATTTCCCTCCTCCCCTTTACTCTCACTTAAACAGGGTCAAGGTTGACAGTCTGTCTCAGGAAAAAAAAAAAAAAAAAAGGATTTAGGGCAGGTCTGGAGAAGATGGGGTACCTTTGGGGCCCTCAGAGAGCACAGTGGGTTCTACCCTTAGGGCCTCCCATACCCCAATTACCTTGCTAGGCTTGGTGGGGGCCACAGCTTCCAGAGGAAAGGGGCTGCCAGGCACGGGCACGCCGTCATAGGTCACCTCCACCTCATAGGGCCCTTCCTCACGGGGCAGGAAGCGCACCACACTGTTGTCAGCCCCCAGGCCTGGCTCCACCTTGCAGGGCACCGCTGCACCCGAGGGGCCCACAATCTTGGATGCCACT | benign | 341,812 |
Mutation at chromosome X, position 154359720, within FLNA (filamin A): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CGGGCCTGCCTCAGGCGCTCCCAGAGTGCCCAGCGCTGCTGCTACAGGGACAGTCTCTGGGCCTCAGGCATCTTAACTGCTATGGCCCAAAAGGGCTGCCTGCACCTGGCAGAGTCCAGAATGGAGACTAAAACATCCCACACTTCCCACATGACAACAGGCGCGGCCAGCCAGCTTGGCACCCATCCTCAGCCCCAGGGCCTGGCCAGCACTAGGAGGAGCTCACCGGGGTGATCTCAAGCTTCTATCCTATACCTGCCCCATGAGAATATTACAGGTGGGGAAACTGAGGCACAGAAGGCTTTGGTGACGTGCTCAAAGTTAGCAGCAAGTGCACGTCTGGGGAAGCCTGTGCCTGTCACCACCATCCTAAGGTAGTCACAACCTTAGCAAACCAAAGACAGGGGCCCTGTCCTTCCCTGCCCTCCTTGGTGCAGCTCCGCAGGGAGATCAGACACCAGCCACCCGCAGCCCACACTCCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATACAGTACTGAGATGCTGTAGGGCCCTTCTCGGCTGGGCACATAATTGACGGTCTGGGTGCCATCAGCGTTGTCTACCACGTCCACTGGCTCCACCAGGCCTGGCCCCAGCCCCAGGGACAGAGCATCAGCTAGTCTCCTGGGCCTCCATTCCTACCCCACCACACTGGACGGCCAGGACCCAGCCCCAGGCCTAGACCTCGCTTTATCCTCATCCACCCGACCCTGGGAATGGCCTTGACCCCCTCTGGCACGAAAGACACCCATCTGGGTGCCAGCTGGGACCCTTGCCTGCCTGCCTTCCTGCCACATCTGCTCAGTGACCAGTCCCATCTGCTCTACCTCCTCCAAGTCCCCCACCTGGCTGCACTGTCACCTGAGGCTCTTCCAAAAACACCTACACACTTGCACCACCTCTGCACTCTGGTCCTCACTTTGGGCCTCCAGTTTCCTTTCCCGGCCCTCAAACAGGACACTGCCCTCCTGACCCCTGGCTCCAGGCATGCAAACACTCACCTTTGGGCCCTTGCACTTTGACCTGCAATGGGGCCACACCAGCCTTGCTTGTGTCCACCTGGAAGGACTGAGGGAGGTTGGCACGAACCATGCCTGGGCTCAGGCCGGGCCCAGAGCACTTGACCTTGGACGCATCTGTCACATCATGCACAGGGACCTTGAAAGGACTGCCTGAGGGTTGGGGCAAAGGGATGGCGGCTGTATGAGACAGGGTGGGGACGAGCAGACAGTCCCAGCCCTGCCCTGGCCGCCACCTCCTCACCTGGCACTTGATGGCCACCATAGGTGACGTTGAGGCTGTAGGTGCCAGCCTCATAAGGGATGTACTCGACCGAGCAGCTGCCGTCCTTGTTATCCATGCAGGACATCTTGGCCTCGGAGGGGCCCTCTACAGCCAGGCCCAGGCCGCCCGTGCCAGCTCCCCTGGTCCAAACAGACAGCCGGTCATTCCTGGGGTTCCCAGGCCCACCAGCCACACGGGCTCCTGGGGGCTCCCTTACCTGGTCTCCACAGTGAACTTGTTGGGCTTGTTGGTGGTGCCACTTTGGATGCCTGGCCCGTGGACACGCACCCGGGAGGGGTCGCAGCCCTCGGTCACGGGCACCTGGAAGGGGCTGCTGGGCACGGGACTGCCGTCATAGGTCACGTCCACGGAGTGCAGTCCTGGAGGAGTGCAGGCCAGGTCAGGAGGAGCCCGGGCCACCCCACCCACCCCGTCTGCCAGCCTGTGGGAGTCCCCAGCACGCACCCTCCTCGTAAGGCGTGTACTCCACTTTGTACATGCCATCGCCACGGTCCTGAACGTAGGTCTCCGTCAGGTTGCCTGAGGGGTTGGCCACACGGGCCTTGACGTGCGGCCCTCCGGTCTGTGTCAGAGCCCGGGCGTCCACACTGAACTCAGTGGTGGCCTCACGGAAGACACCTGCAAAGGCACAGAGAGGAGGCTTGGGGCTCGGGGGTTCTGGTCCCTGTCCCCCGTCACATACCCCACGGCAGGGCAACTCACCCTGGCCCTCAATACCAGGCCCATAGCACTGGACACCGGAAGTGTCCACCGCAGGTTCCACCTGCAGCTTGCTGGGGAAGTTGGGCACGGGCTGGCCGCCGTACTTGATGGTGACGGTGTAGGCCCCGGGGCAGAGGGGAATGTAGGTAATGGTGTGCGTGCCATCACCGTGGTCCTGGATGTACACCTCGGCCGGAAGCCCCGCCTCCGAGCAGATCTCAATGGTCAGCTCCGCGCTGCCCGCGCTCGAGCAGTCCACTTGGAATTGGCCCACCTCCCCAGCGGTGGCCCGCTCCAGCCCGGGGCCTGAGCACTTGACTTTGGATGCGTCAAAGCAGGGAACCACGTGGGCCTTGAATGGGGAGCCAGGGATGTGGGTGTCAGCGAAGAGGATGTTGATGTTGTAGTCCCCGGGCTCGGTGGGCACGTAGGACACGGAACATGTGCCATCCCCATTGTCCAAGCACTCGAGCTGCGCCTCACAGGGGCCCTCCACCGTCAGGCCCAGGCCACCTGTGCCGGCGCCCTTGGTGTCGATGGTGAAGCGGGCGGGGGAGCCCGCACTGCCTCCCTGCAGCCCCGGCCCAAACGCCTTCACCTGAGGGAAGAAGGGGTCAGGAGCCAAGGCCACACTATGCCCCGATCCCAGACCTCCTGCTTGACTTTCCACCTGCCTCCCCTTGCCCTGGCTTCCTGCCCTCACCAAACAGGGACACGGGCGGGCCCAGGCTGCCTGCCAGATGGGCCATCCATCAGTCATAAGGACAAAAAGGAGGGCAGGGCGCGGTCACTCACGCCTGTAATCTCAGCCCTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAATCTCGTCTCTACTAAAATTACCAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGTATTGCTTGAAGCCAGGAGGCGGAGGGTGCCGTGAGCCAATATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAGAAATTCTTCAACCCTGATGACTTTTTGTGGGTTTCTATTTCCCTCCTCCCCTTTACTCTCACTTAAACAGGGTCAAGGTTGACAGTCTGTCTCAGGAAAAAAAAAAAAAAAAAAGGATTTAGGGCAGGTCTGGAGAAGATGGGGTACCTTTGGGGCCCTCAGAGAGCACAGTGGGTTCTACCCTTAGGGCCTCCCATACCCCAATTACCTTGCTAGGCTTGGTGGGGGCCACAGCTTCCAGAGGAAAGGGGCTGCCAGGCACGGGCACGCCGTCATAGGTCACCTCCACCTCATAGGGCCCTTCCTCACGGGGCAGGAAGCGCACCACACTGTTGTCAGCCCCCAGGCCTGGCTCCACCTTGCAGGGCACCGCTGCACCCGAGGGGCCCACAATCTTGGATGCCACTTTGCCTTGACCACCAGCACCCTTTGATTTGACTGTGAACTCCTGGTCTTTGCCAACGTCCACCTCTGTGGAAACGATGAAAGGAAGGAGAGAGACATGACACCCAGCTCAGCCAATCCCTGGATGTGACAAAGGCCTTTGCGACAAGGGCCCCAACTACTTACTCTCTCCCAGGCCAGACACCTTGATCTTGCTGAGGTCCAGGCTTGGAGATACTGCCACTGAGAAAGGGCTCTTAGGGATGGGATCCCCTCCATAAGTG | CGGGCCTGCCTCAGGCGCTCCCAGAGTGCCCAGCGCTGCTGCTACAGGGACAGTCTCTGGGCCTCAGGCATCTTAACTGCTATGGCCCAAAAGGGCTGCCTGCACCTGGCAGAGTCCAGAATGGAGACTAAAACATCCCACACTTCCCACATGACAACAGGCGCGGCCAGCCAGCTTGGCACCCATCCTCAGCCCCAGGGCCTGGCCAGCACTAGGAGGAGCTCACCGGGGTGATCTCAAGCTTCTATCCTATACCTGCCCCATGAGAATATTACAGGTGGGGAAACTGAGGCACAGAAGGCTTTGGTGACGTGCTCAAAGTTAGCAGCAAGTGCACGTCTGGGGAAGCCTGTGCCTGTCACCACCATCCTAAGGTAGTCACAACCTTAGCAAACCAAAGACAGGGGCCCTGTCCTTCCCTGCCCTCCTTGGTGCAGCTCCGCAGGGAGATCAGACACCAGCCACCCGCAGCCCACACTCCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATACAGTACTGAGATGCTGTAGGGCCCTTCTCGGCTGGGCACATAATTGACGGTCTGGGTGCCATCAGCGTTGTCTACCACGTCCACTGGCTCCACCAGGCCTGGCCCCAGCCCCAGGGACAGAGCATCAGCTAGTCTCCTGGGCCTCCATTCCTACCCCACCACACTGGACGGCCAGGACCCAGCCCCAGGCCTAGACCTCGCTTTATCCTCATCCACCCGACCCTGGGAATGGCCTTGACCCCCTCTGGCACGAAAGACACCCATCTGGGTGCCAGCTGGGACCCTTGCCTGCCTGCCTTCCTGCCACATCTGCTCAGTGACCAGTCCCATCTGCTCTACCTCCTCCAAGTCCCCCACCTGGCTGCACTGTCACCTGAGGCTCTTCCAAAAACACCTACACACTTGCACCACCTCTGCACTCTGGTCCTCACTTTGGGCCTCCAGTTTCCTTTCCCGGCCCTCAAACAGGACACTGCCCTCCTGACCCCTGGCTCCAGGCATGCAAACACTCACCTTTGGGCCCTTGCACTTTGACCTGCAATGGGGCCACACCAGCCTTGCTTGTGTCCACCTGGAAGGACTGAGGGAGGTTGGCACGAACCATGCCTGGGCTCAGGCCGGGCCCAGAGCACTTGACCTTGGACGCATCTGTCACATCATGCACAGGGACCTTGAAAGGACTGCCTGAGGGTTGGGGCAAAGGGATGGCGGCTGTATGAGACAGGGTGGGGACGAGCAGACAGTCCCAGCCCTGCCCTGGCCGCCACCTCCTCACCTGGCACTTGATGGCCACCATAGGTGACGTTGAGGCTGTAGGTGCCAGCCTCATAAGGGATGTACTCGACCGAGCAGCTGCCGTCCTTGTTATCCATGCAGGACATCTTGGCCTCGGAGGGGCCCTCTACAGCCAGGCCCAGGCCGCCCGTGCCAGCTCCCCTGGTCCAAACAGACAGCCGGTCATTCCTGGGGTTCCCAGGCCCACCAGCCACACGGGCTCCTGGGGGCTCCCTTACCTGGTCTCCACAGTGAACTTGTTGGGCTTGTTGGTGGTGCCACTTTGGATGCCTGGCCCGTGGACACGCACCCGGGAGGGGTCGCAGCCCTCGGTCACGGGCACCTGGAAGGGGCTGCTGGGCACGGGACTGCCGTCATAGGTCACGTCCACGGAGTGCAGTCCTGGAGGAGTGCAGGCCAGGTCAGGAGGAGCCCGGGCCACCCCACCCACCCCGTCTGCCAGCCTGTGGGAGTCCCACGCACCCTCCTCGTAAGGCGTGTACTCCACTTTGTACATGCCATCGCCACGGTCCTGAACGTAGGTCTCCGTCAGGTTGCCTGAGGGGTTGGCCACACGGGCCTTGACGTGCGGCCCTCCGGTCTGTGTCAGAGCCCGGGCGTCCACACTGAACTCAGTGGTGGCCTCACGGAAGACACCTGCAAAGGCACAGAGAGGAGGCTTGGGGCTCGGGGGTTCTGGTCCCTGTCCCCCGTCACATACCCCACGGCAGGGCAACTCACCCTGGCCCTCAATACCAGGCCCATAGCACTGGACACCGGAAGTGTCCACCGCAGGTTCCACCTGCAGCTTGCTGGGGAAGTTGGGCACGGGCTGGCCGCCGTACTTGATGGTGACGGTGTAGGCCCCGGGGCAGAGGGGAATGTAGGTAATGGTGTGCGTGCCATCACCGTGGTCCTGGATGTACACCTCGGCCGGAAGCCCCGCCTCCGAGCAGATCTCAATGGTCAGCTCCGCGCTGCCCGCGCTCGAGCAGTCCACTTGGAATTGGCCCACCTCCCCAGCGGTGGCCCGCTCCAGCCCGGGGCCTGAGCACTTGACTTTGGATGCGTCAAAGCAGGGAACCACGTGGGCCTTGAATGGGGAGCCAGGGATGTGGGTGTCAGCGAAGAGGATGTTGATGTTGTAGTCCCCGGGCTCGGTGGGCACGTAGGACACGGAACATGTGCCATCCCCATTGTCCAAGCACTCGAGCTGCGCCTCACAGGGGCCCTCCACCGTCAGGCCCAGGCCACCTGTGCCGGCGCCCTTGGTGTCGATGGTGAAGCGGGCGGGGGAGCCCGCACTGCCTCCCTGCAGCCCCGGCCCAAACGCCTTCACCTGAGGGAAGAAGGGGTCAGGAGCCAAGGCCACACTATGCCCCGATCCCAGACCTCCTGCTTGACTTTCCACCTGCCTCCCCTTGCCCTGGCTTCCTGCCCTCACCAAACAGGGACACGGGCGGGCCCAGGCTGCCTGCCAGATGGGCCATCCATCAGTCATAAGGACAAAAAGGAGGGCAGGGCGCGGTCACTCACGCCTGTAATCTCAGCCCTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAATCTCGTCTCTACTAAAATTACCAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGTATTGCTTGAAGCCAGGAGGCGGAGGGTGCCGTGAGCCAATATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAGAAATTCTTCAACCCTGATGACTTTTTGTGGGTTTCTATTTCCCTCCTCCCCTTTACTCTCACTTAAACAGGGTCAAGGTTGACAGTCTGTCTCAGGAAAAAAAAAAAAAAAAAAGGATTTAGGGCAGGTCTGGAGAAGATGGGGTACCTTTGGGGCCCTCAGAGAGCACAGTGGGTTCTACCCTTAGGGCCTCCCATACCCCAATTACCTTGCTAGGCTTGGTGGGGGCCACAGCTTCCAGAGGAAAGGGGCTGCCAGGCACGGGCACGCCGTCATAGGTCACCTCCACCTCATAGGGCCCTTCCTCACGGGGCAGGAAGCGCACCACACTGTTGTCAGCCCCCAGGCCTGGCTCCACCTTGCAGGGCACCGCTGCACCCGAGGGGCCCACAATCTTGGATGCCACTTTGCCTTGACCACCAGCACCCTTTGATTTGACTGTGAACTCCTGGTCTTTGCCAACGTCCACCTCTGTGGAAACGATGAAAGGAAGGAGAGAGACATGACACCCAGCTCAGCCAATCCCTGGATGTGACAAAGGCCTTTGCGACAAGGGCCCCAACTACTTACTCTCTCCCAGGCCAGACACCTTGATCTTGCTGAGGTCCAGGCTTGGAGATACTGCCACTGAGAAAGGGCTCTTAGGGATGGGATCCCCTCCATAAGTGNNNN | benign | 341,820 |
Does the variant on chromosome X at location 154361584 affecting gene FLNA (filamin A) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | CTGGCCCGTGGACACGCACCCGGGAGGGGTCGCAGCCCTCGGTCACGGGCACCTGGAAGGGGCTGCTGGGCACGGGACTGCCGTCATAGGTCACGTCCACGGAGTGCAGTCCTGGAGGAGTGCAGGCCAGGTCAGGAGGAGCCCGGGCCACCCCACCCACCCCGTCTGCCAGCCTGTGGGAGTCCCCAGCACGCACCCTCCTCGTAAGGCGTGTACTCCACTTTGTACATGCCATCGCCACGGTCCTGAACGTAGGTCTCCGTCAGGTTGCCTGAGGGGTTGGCCACACGGGCCTTGACGTGCGGCCCTCCGGTCTGTGTCAGAGCCCGGGCGTCCACACTGAACTCAGTGGTGGCCTCACGGAAGACACCTGCAAAGGCACAGAGAGGAGGCTTGGGGCTCGGGGGTTCTGGTCCCTGTCCCCCGTCACATACCCCACGGCAGGGCAACTCACCCTGGCCCTCAATACCAGGCCCATAGCACTGGACACCGGAAGTGTCCACCGCAGGTTCCACCTGCAGCTTGCTGGGGAAGTTGGGCACGGGCTGGCCGCCGTACTTGATGGTGACGGTGTAGGCCCCGGGGCAGAGGGGAATGTAGGTAATGGTGTGCGTGCCATCACCGTGGTCCTGGATGTACACCTCGGCCGGAAGCCCCGCCTCCGAGCAGATCTCAATGGTCAGCTCCGCGCTGCCCGCGCTCGAGCAGTCCACTTGGAATTGGCCCACCTCCCCAGCGGTGGCCCGCTCCAGCCCGGGGCCTGAGCACTTGACTTTGGATGCGTCAAAGCAGGGAACCACGTGGGCCTTGAATGGGGAGCCAGGGATGTGGGTGTCAGCGAAGAGGATGTTGATGTTGTAGTCCCCGGGCTCGGTGGGCACGTAGGACACGGAACATGTGCCATCCCCATTGTCCAAGCACTCGAGCTGCGCCTCACAGGGGCCCTCCACCGTCAGGCCCAGGCCACCTGTGCCGGCGCCCTTGGTGTCGATGGTGAAGCGGGCGGGGGAGCCCGCACTGCCTCCCTGCAGCCCCGGCCCAAACGCCTTCACCTGAGGGAAGAAGGGGTCAGGAGCCAAGGCCACACTATGCCCCGATCCCAGACCTCCTGCTTGACTTTCCACCTGCCTCCCCTTGCCCTGGCTTCCTGCCCTCACCAAACAGGGACACGGGCGGGCCCAGGCTGCCTGCCAGATGGGCCATCCATCAGTCATAAGGACAAAAAGGAGGGCAGGGCGCGGTCACTCACGCCTGTAATCTCAGCCCTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAATCTCGTCTCTACTAAAATTACCAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGTATTGCTTGAAGCCAGGAGGCGGAGGGTGCCGTGAGCCAATATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAGAAATTCTTCAACCCTGATGACTTTTTGTGGGTTTCTATTTCCCTCCTCCCCTTTACTCTCACTTAAACAGGGTCAAGGTTGACAGTCTGTCTCAGGAAAAAAAAAAAAAAAAAAGGATTTAGGGCAGGTCTGGAGAAGATGGGGTACCTTTGGGGCCCTCAGAGAGCACAGTGGGTTCTACCCTTAGGGCCTCCCATACCCCAATTACCTTGCTAGGCTTGGTGGGGGCCACAGCTTCCAGAGGAAAGGGGCTGCCAGGCACGGGCACGCCGTCATAGGTCACCTCCACCTCATAGGGCCCTTCCTCACGGGGCAGGAAGCGCACCACACTGTTGTCAGCCCCCAGGCCTGGCTCCACCTTGCAGGGCACCGCTGCACCCGAGGGGCCCACAATCTTGGATGCCACTTTGCCTTGACCACCAGCACCCTTTGATTTGACTGTGAACTCCTGGTCTTTGCCAACGTCCACCTCTGTGGAAACGATGAAAGGAAGGAGAGAGACATGACACCCAGCTCAGCCAATCCCTGGATGTGACAAAGGCCTTTGCGACAAGGGCCCCAACTACTTACTCTCTCCCAGGCCAGACACCTTGATCTTGCTGAGGTCCAGGCTTGGAGATACTGCCACTGAGAAAGGGCTCTTAGGGATGGGATCCCCTCCATAAGTGACATTGACGCCTACTGGACCCTGGGAAGGGTGCAGAAGGGAAGGGGGTATTTAGAGACACCAGAATTGCTCCCCAACCCCCTCCTGGACCTCCATGCCTGTCCTCTCCCAGGTAAGGAATGAGAGTGGGCAGAAAGTCCCTCGGAGCTGTCCCCTAGGCTGCTGCATGAGGAGGCTGGGGACTCGGTGACTGTAGTGGAGGGTGTGGCTACCTGCTGGACAGGCGTGTACTTGACTGTGTAGGTGTTGTCATGGTGGTCGATGATGTCCACATCTCGCACTGCATCCCCCTTGGTGAGTCCTGAGAACTGGACGTCCAGCTTGCCTTTGCCAGCAGCTTTGGCATTTACTGTGAAGTGGGTGGGCTTGCCAAGCTCGACACCTGAGGAACACACAGGGACCATGTAGGGGCACCCTGCCCCAAGCCCTCCTACCCTTGATGCCCCGCAACCTGCCATGGGGTACCTGTCCTCACCAGTGCGACTGAGGCCAGGGCCCTCGGCCTTCACCTTACTGGCGTCATGAGAGGGCTCCACCTTGACTCGGATGGGGCTGGTGGGCGTGGCCTGCAGGCAGTGGGAGGAGAAGGCCTTAGAGGAGGGCAGACGTCATCCGCAATGACATCTTAGCGGCCAGGAGCGCAGCACCCACCTGGTCAGCAAAGAGGACCATAATGGTGTAGCTGCCAGCCCCCCGGGGCGTGTACTTGACCGTGAAGGTGTCATTGTCATTGCGGATGATGTCGAAGTCGATGTCAGCTTCGGCGGGGCCTACCACTCCAGGGGCACACTTGATGCCGATGCTGACGTCCCCTGCGGCGGGGAGAGGAGCGGAGGCTGAGACCTCGCAGGGACACCCCAGCCACCTGCCCTCCCACCCACAGCCAGGCCTTACCCTGGCCAGCCTCGGCGCAGTCCACAGTGAAGTAGGTGGGCTCGTGGGCCTTGAGCCCTGTCTTGGCTACTCCGGGGCCGTATACTTTGACCTTGTTGGGGTGGCTGCCAGCTCCCACATTCACCTGCAGGGCACAGGGGCAAGGGCAAGGGCATGAGCAGCCTGGAGGAGACTCAGAAGCTCCCTCAGCTACACTGGCAGGCACACAAAATGGTCCAGCTGCCTTGGGAAGAGTCTGGCAGTTCCTCAGTTGACCACAGAGGGACTGTGTGATGCTCCGGTTCACTCCGAGGCAACTACCCAAGAGAAATGAAAGCAAATGTCCACGCAAACACCTGGACTCACTGTTAACAGCACTGTTCATGATCACCAAAGGCAAGCTCATCCTCAATATCTGTTAGCAAGTGAACGGAAAAATGGAATGTGGTCTGGCCACACAATGGAGTATTATGCGGCCATAAAAATAAATGAAGCGGCCGGACGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGCGGACCACCTGGGGTCAGGCGGTTGAGACCAGTCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGAATGGTGGCGTATGCCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGAATTGCTTGAATCTGGCAGGCAGAGGTTGCAGTGAGCTGAGATCACGTCATTGCACTCCAGCCTGGCAATAAGAGCAAAACTCCGGCTCAAAAAAAAAAAACCAGGATGGGCGCGGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGACACCATCCTGGCTAACACAGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCCGGGGGGGTGGCGGGCGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAAGACAATGGTGT | CTGGCCCGTGGACACGCACCCGGGAGGGGTCGCAGCCCTCGGTCACGGGCACCTGGAAGGGGCTGCTGGGCACGGGACTGCCGTCATAGGTCACGTCCACGGAGTGCAGTCCTGGAGGAGTGCAGGCCAGGTCAGGAGGAGCCCGGGCCACCCCACCCACCCCGTCTGCCAGCCTGTGGGAGTCCCCAGCACGCACCCTCCTCGTAAGGCGTGTACTCCACTTTGTACATGCCATCGCCACGGTCCTGAACGTAGGTCTCCGTCAGGTTGCCTGAGGGGTTGGCCACACGGGCCTTGACGTGCGGCCCTCCGGTCTGTGTCAGAGCCCGGGCGTCCACACTGAACTCAGTGGTGGCCTCACGGAAGACACCTGCAAAGGCACAGAGAGGAGGCTTGGGGCTCGGGGGTTCTGGTCCCTGTCCCCCGTCACATACCCCACGGCAGGGCAACTCACCCTGGCCCTCAATACCAGGCCCATAGCACTGGACACCGGAAGTGTCCACCGCAGGTTCCACCTGCAGCTTGCTGGGGAAGTTGGGCACGGGCTGGCCGCCGTACTTGATGGTGACGGTGTAGGCCCCGGGGCAGAGGGGAATGTAGGTAATGGTGTGCGTGCCATCACCGTGGTCCTGGATGTACACCTCGGCCGGAAGCCCCGCCTCCGAGCAGATCTCAATGGTCAGCTCCGCGCTGCCCGCGCTCGAGCAGTCCACTTGGAATTGGCCCACCTCCCCAGCGGTGGCCCGCTCCAGCCCGGGGCCTGAGCACTTGACTTTGGATGCGTCAAAGCAGGGAACCACGTGGGCCTTGAATGGGGAGCCAGGGATGTGGGTGTCAGCGAAGAGGATGTTGATGTTGTAGTCCCCGGGCTCGGTGGGCACGTAGGACACGGAACATGTGCCATCCCCATTGTCCAAGCACTCGAGCTGCGCCTCACAGGGGCCCTCCACCGTCAGGCCCAGGCCACCTGTGCCGGCGCCCTTGGTGTCGATGGTGAAGCGGGCGGGGGAGCCCGCACTGCCTCCCTGCAGCCCCGGCCCAAACGCCTTCACCTGAGGGAAGAAGGGGTCAGGAGCCAAGGCCACACTATGCCCCGATCCCAGACCTCCTGCTTGACTTTCCACCTGCCTCCCCTTGCCCTGGCTTCCTGCCCTCACCAAACAGGGACACGGGCGGGCCCAGGCTGCCTGCCAGATGGGCCATCCATCAGTCATAAGGACAAAAAGGAGGGCAGGGCGCGGTCACTCACGCCTGTAATCTCAGCCCTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAATCTCGTCTCTACTAAAATTACCAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGTATTGCTTGAAGCCAGGAGGCGGAGGGTGCCGTGAGCCAATATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAGAAATTCTTCAACCCTGATGACTTTTTGTGGGTTTCTATTTCCCTCCTCCCCTTTACTCTCACTTAAACAGGGTCAAGGTTGACAGTCTGTCTCAGGAAAAAAAAAAAAAAAAAAGGATTTAGGGCAGGTCTGGAGAAGATGGGGTACCTTTGGGGCCCTCAGAGAGCACAGTGGGTTCTACCCTTAGGGCCTCCCATACCCCAATTACCTTGCTAGGCTTGGTGGGGGCCACAGCTTCCAGAGGAAAGGGGCTGCCAGGCACGGGCACGCCGTCATAGGTCACCTCCACCTCATAGGGCCCTTCCTCACGGGGCAGGAAGCGCACCACACTGTTGTCAGCCCCCAGGCCTGGCTCCACCTTGCAGGGCACCGCTGCACCCGAGGGGCCCACAATCTTGGATGCCACTTTGCCTTGACCACCAGCACCCTTTGATTTGACTGTGAACTCCTGGTCTTTGCCAACGTCCACCTCTGTGGAAACGATGAAAAGGAAGGAGAGAGACATGACACCCAGCTCAGCCAATCCCTGGATGTGACAAAGGCCTTTGCGACAAGGGCCCCAACTACTTACTCTCTCCCAGGCCAGACACCTTGATCTTGCTGAGGTCCAGGCTTGGAGATACTGCCACTGAGAAAGGGCTCTTAGGGATGGGATCCCCTCCATAAGTGACATTGACGCCTACTGGACCCTGGGAAGGGTGCAGAAGGGAAGGGGGTATTTAGAGACACCAGAATTGCTCCCCAACCCCCTCCTGGACCTCCATGCCTGTCCTCTCCCAGGTAAGGAATGAGAGTGGGCAGAAAGTCCCTCGGAGCTGTCCCCTAGGCTGCTGCATGAGGAGGCTGGGGACTCGGTGACTGTAGTGGAGGGTGTGGCTACCTGCTGGACAGGCGTGTACTTGACTGTGTAGGTGTTGTCATGGTGGTCGATGATGTCCACATCTCGCACTGCATCCCCCTTGGTGAGTCCTGAGAACTGGACGTCCAGCTTGCCTTTGCCAGCAGCTTTGGCATTTACTGTGAAGTGGGTGGGCTTGCCAAGCTCGACACCTGAGGAACACACAGGGACCATGTAGGGGCACCCTGCCCCAAGCCCTCCTACCCTTGATGCCCCGCAACCTGCCATGGGGTACCTGTCCTCACCAGTGCGACTGAGGCCAGGGCCCTCGGCCTTCACCTTACTGGCGTCATGAGAGGGCTCCACCTTGACTCGGATGGGGCTGGTGGGCGTGGCCTGCAGGCAGTGGGAGGAGAAGGCCTTAGAGGAGGGCAGACGTCATCCGCAATGACATCTTAGCGGCCAGGAGCGCAGCACCCACCTGGTCAGCAAAGAGGACCATAATGGTGTAGCTGCCAGCCCCCCGGGGCGTGTACTTGACCGTGAAGGTGTCATTGTCATTGCGGATGATGTCGAAGTCGATGTCAGCTTCGGCGGGGCCTACCACTCCAGGGGCACACTTGATGCCGATGCTGACGTCCCCTGCGGCGGGGAGAGGAGCGGAGGCTGAGACCTCGCAGGGACACCCCAGCCACCTGCCCTCCCACCCACAGCCAGGCCTTACCCTGGCCAGCCTCGGCGCAGTCCACAGTGAAGTAGGTGGGCTCGTGGGCCTTGAGCCCTGTCTTGGCTACTCCGGGGCCGTATACTTTGACCTTGTTGGGGTGGCTGCCAGCTCCCACATTCACCTGCAGGGCACAGGGGCAAGGGCAAGGGCATGAGCAGCCTGGAGGAGACTCAGAAGCTCCCTCAGCTACACTGGCAGGCACACAAAATGGTCCAGCTGCCTTGGGAAGAGTCTGGCAGTTCCTCAGTTGACCACAGAGGGACTGTGTGATGCTCCGGTTCACTCCGAGGCAACTACCCAAGAGAAATGAAAGCAAATGTCCACGCAAACACCTGGACTCACTGTTAACAGCACTGTTCATGATCACCAAAGGCAAGCTCATCCTCAATATCTGTTAGCAAGTGAACGGAAAAATGGAATGTGGTCTGGCCACACAATGGAGTATTATGCGGCCATAAAAATAAATGAAGCGGCCGGACGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGCGGACCACCTGGGGTCAGGCGGTTGAGACCAGTCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGAATGGTGGCGTATGCCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGAATTGCTTGAATCTGGCAGGCAGAGGTTGCAGTGAGCTGAGATCACGTCATTGCACTCCAGCCTGGCAATAAGAGCAAAACTCCGGCTCAAAAAAAAAAAACCAGGATGGGCGCGGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGACACCATCCTGGCTAACACAGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCCGGGGGGGTGGCGGGCGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAAGACAATGGTG | benign | 341,901 |
Clinically, how would you classify the variant at chromosome X, position 154361957, gene FLNA (filamin A): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | CAAAGGCACAGAGAGGAGGCTTGGGGCTCGGGGGTTCTGGTCCCTGTCCCCCGTCACATACCCCACGGCAGGGCAACTCACCCTGGCCCTCAATACCAGGCCCATAGCACTGGACACCGGAAGTGTCCACCGCAGGTTCCACCTGCAGCTTGCTGGGGAAGTTGGGCACGGGCTGGCCGCCGTACTTGATGGTGACGGTGTAGGCCCCGGGGCAGAGGGGAATGTAGGTAATGGTGTGCGTGCCATCACCGTGGTCCTGGATGTACACCTCGGCCGGAAGCCCCGCCTCCGAGCAGATCTCAATGGTCAGCTCCGCGCTGCCCGCGCTCGAGCAGTCCACTTGGAATTGGCCCACCTCCCCAGCGGTGGCCCGCTCCAGCCCGGGGCCTGAGCACTTGACTTTGGATGCGTCAAAGCAGGGAACCACGTGGGCCTTGAATGGGGAGCCAGGGATGTGGGTGTCAGCGAAGAGGATGTTGATGTTGTAGTCCCCGGGCTCGGTGGGCACGTAGGACACGGAACATGTGCCATCCCCATTGTCCAAGCACTCGAGCTGCGCCTCACAGGGGCCCTCCACCGTCAGGCCCAGGCCACCTGTGCCGGCGCCCTTGGTGTCGATGGTGAAGCGGGCGGGGGAGCCCGCACTGCCTCCCTGCAGCCCCGGCCCAAACGCCTTCACCTGAGGGAAGAAGGGGTCAGGAGCCAAGGCCACACTATGCCCCGATCCCAGACCTCCTGCTTGACTTTCCACCTGCCTCCCCTTGCCCTGGCTTCCTGCCCTCACCAAACAGGGACACGGGCGGGCCCAGGCTGCCTGCCAGATGGGCCATCCATCAGTCATAAGGACAAAAAGGAGGGCAGGGCGCGGTCACTCACGCCTGTAATCTCAGCCCTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAATCTCGTCTCTACTAAAATTACCAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGTATTGCTTGAAGCCAGGAGGCGGAGGGTGCCGTGAGCCAATATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAGAAATTCTTCAACCCTGATGACTTTTTGTGGGTTTCTATTTCCCTCCTCCCCTTTACTCTCACTTAAACAGGGTCAAGGTTGACAGTCTGTCTCAGGAAAAAAAAAAAAAAAAAAGGATTTAGGGCAGGTCTGGAGAAGATGGGGTACCTTTGGGGCCCTCAGAGAGCACAGTGGGTTCTACCCTTAGGGCCTCCCATACCCCAATTACCTTGCTAGGCTTGGTGGGGGCCACAGCTTCCAGAGGAAAGGGGCTGCCAGGCACGGGCACGCCGTCATAGGTCACCTCCACCTCATAGGGCCCTTCCTCACGGGGCAGGAAGCGCACCACACTGTTGTCAGCCCCCAGGCCTGGCTCCACCTTGCAGGGCACCGCTGCACCCGAGGGGCCCACAATCTTGGATGCCACTTTGCCTTGACCACCAGCACCCTTTGATTTGACTGTGAACTCCTGGTCTTTGCCAACGTCCACCTCTGTGGAAACGATGAAAGGAAGGAGAGAGACATGACACCCAGCTCAGCCAATCCCTGGATGTGACAAAGGCCTTTGCGACAAGGGCCCCAACTACTTACTCTCTCCCAGGCCAGACACCTTGATCTTGCTGAGGTCCAGGCTTGGAGATACTGCCACTGAGAAAGGGCTCTTAGGGATGGGATCCCCTCCATAAGTGACATTGACGCCTACTGGACCCTGGGAAGGGTGCAGAAGGGAAGGGGGTATTTAGAGACACCAGAATTGCTCCCCAACCCCCTCCTGGACCTCCATGCCTGTCCTCTCCCAGGTAAGGAATGAGAGTGGGCAGAAAGTCCCTCGGAGCTGTCCCCTAGGCTGCTGCATGAGGAGGCTGGGGACTCGGTGACTGTAGTGGAGGGTGTGGCTACCTGCTGGACAGGCGTGTACTTGACTGTGTAGGTGTTGTCATGGTGGTCGATGATGTCCACATCTCGCACTGCATCCCCCTTGGTGAGTCCTGAGAACTGGACGTCCAGCTTGCCTTTGCCAGCAGCTTTGGCATTTACTGTGAAGTGGGTGGGCTTGCCAAGCTCGACACCTGAGGAACACACAGGGACCATGTAGGGGCACCCTGCCCCAAGCCCTCCTACCCTTGATGCCCCGCAACCTGCCATGGGGTACCTGTCCTCACCAGTGCGACTGAGGCCAGGGCCCTCGGCCTTCACCTTACTGGCGTCATGAGAGGGCTCCACCTTGACTCGGATGGGGCTGGTGGGCGTGGCCTGCAGGCAGTGGGAGGAGAAGGCCTTAGAGGAGGGCAGACGTCATCCGCAATGACATCTTAGCGGCCAGGAGCGCAGCACCCACCTGGTCAGCAAAGAGGACCATAATGGTGTAGCTGCCAGCCCCCCGGGGCGTGTACTTGACCGTGAAGGTGTCATTGTCATTGCGGATGATGTCGAAGTCGATGTCAGCTTCGGCGGGGCCTACCACTCCAGGGGCACACTTGATGCCGATGCTGACGTCCCCTGCGGCGGGGAGAGGAGCGGAGGCTGAGACCTCGCAGGGACACCCCAGCCACCTGCCCTCCCACCCACAGCCAGGCCTTACCCTGGCCAGCCTCGGCGCAGTCCACAGTGAAGTAGGTGGGCTCGTGGGCCTTGAGCCCTGTCTTGGCTACTCCGGGGCCGTATACTTTGACCTTGTTGGGGTGGCTGCCAGCTCCCACATTCACCTGCAGGGCACAGGGGCAAGGGCAAGGGCATGAGCAGCCTGGAGGAGACTCAGAAGCTCCCTCAGCTACACTGGCAGGCACACAAAATGGTCCAGCTGCCTTGGGAAGAGTCTGGCAGTTCCTCAGTTGACCACAGAGGGACTGTGTGATGCTCCGGTTCACTCCGAGGCAACTACCCAAGAGAAATGAAAGCAAATGTCCACGCAAACACCTGGACTCACTGTTAACAGCACTGTTCATGATCACCAAAGGCAAGCTCATCCTCAATATCTGTTAGCAAGTGAACGGAAAAATGGAATGTGGTCTGGCCACACAATGGAGTATTATGCGGCCATAAAAATAAATGAAGCGGCCGGACGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGCGGACCACCTGGGGTCAGGCGGTTGAGACCAGTCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGAATGGTGGCGTATGCCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGAATTGCTTGAATCTGGCAGGCAGAGGTTGCAGTGAGCTGAGATCACGTCATTGCACTCCAGCCTGGCAATAAGAGCAAAACTCCGGCTCAAAAAAAAAAAACCAGGATGGGCGCGGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGACACCATCCTGGCTAACACAGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCCGGGGGGGTGGCGGGCGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAAGACAATGGTGTGAACCTGGGAGAAAGAGCCTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCGACAGTGTGAGACTCCATCTCAAATAAATAAATAAATAAACAAAATAATTATAAAGGAACAAAGTGCCAAGACATGCCAAACATGAACGAAAACACGGAAAACTTCGTGGTGAGCGAAAGAAGCCAGACACAAAAGGCCACATGGCACACAGTTCCATCTATAGAACATGTCCAGGATAGGCAAAGCCACAGCAGAAAGCAGGTTAGTGGTCACCAGGAGCTGTGGGACAGGGGAGTCAGGATGGTGTGCCACAACCACTTGAAATGGACGAATCGTGTGCTACGTGAATGCTATCGAGATGGACTAAAGGCC | CAAAGGCACAGAGAGGAGGCTTGGGGCTCGGGGGTTCTGGTCCCTGTCCCCCGTCACATACCCCACGGCAGGGCAACTCACCCTGGCCCTCAATACCAGGCCCATAGCACTGGACACCGGAAGTGTCCACCGCAGGTTCCACCTGCAGCTTGCTGGGGAAGTTGGGCACGGGCTGGCCGCCGTACTTGATGGTGACGGTGTAGGCCCCGGGGCAGAGGGGAATGTAGGTAATGGTGTGCGTGCCATCACCGTGGTCCTGGATGTACACCTCGGCCGGAAGCCCCGCCTCCGAGCAGATCTCAATGGTCAGCTCCGCGCTGCCCGCGCTCGAGCAGTCCACTTGGAATTGGCCCACCTCCCCAGCGGTGGCCCGCTCCAGCCCGGGGCCTGAGCACTTGACTTTGGATGCGTCAAAGCAGGGAACCACGTGGGCCTTGAATGGGGAGCCAGGGATGTGGGTGTCAGCGAAGAGGATGTTGATGTTGTAGTCCCCGGGCTCGGTGGGCACGTAGGACACGGAACATGTGCCATCCCCATTGTCCAAGCACTCGAGCTGCGCCTCACAGGGGCCCTCCACCGTCAGGCCCAGGCCACCTGTGCCGGCGCCCTTGGTGTCGATGGTGAAGCGGGCGGGGGAGCCCGCACTGCCTCCCTGCAGCCCCGGCCCAAACGCCTTCACCTGAGGGAAGAAGGGGTCAGGAGCCAAGGCCACACTATGCCCCGATCCCAGACCTCCTGCTTGACTTTCCACCTGCCTCCCCTTGCCCTGGCTTCCTGCCCTCACCAAACAGGGACACGGGCGGGCCCAGGCTGCCTGCCAGATGGGCCATCCATCAGTCATAAGGACAAAAAGGAGGGCAGGGCGCGGTCACTCACGCCTGTAATCTCAGCCCTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAATCTCGTCTCTACTAAAATTACCAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGTATTGCTTGAAGCCAGGAGGCGGAGGGTGCCGTGAGCCAATATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAGAAATTCTTCAACCCTGATGACTTTTTGTGGGTTTCTATTTCCCTCCTCCCCTTTACTCTCACTTAAACAGGGTCAAGGTTGACAGTCTGTCTCAGGAAAAAAAAAAAAAAAAAAGGATTTAGGGCAGGTCTGGAGAAGATGGGGTACCTTTGGGGCCCTCAGAGAGCACAGTGGGTTCTACCCTTAGGGCCTCCCATACCCCAATTACCTTGCTAGGCTTGGTGGGGGCCACAGCTTCCAGAGGAAAGGGGCTGCCAGGCACGGGCACGCCGTCATAGGTCACCTCCACCTCATAGGGCCCTTCCTCACGGGGCAGGAAGCGCACCACACTGTTGTCAGCCCCCAGGCCTGGCTCCACCTTGCAGGGCACCGCTGCACCCGAGGGGCCCACAATCTTGGATGCCACTTTGCCTTGACCACCAGCACCCTTTGATTTGACTGTGAACTCCTGGTCTTTGCCAACGTCCACCTCTGTGGAAACGATGAAAGGAAGGAGAGAGACATGACACCCAGCTCAGCCAATCCCTGGATGTGACAAAGGCCTTTGCGACAAGGGCCCCAACTACTTACTCTCTCCCAGGCCAGACACCTTGATCTTGCTGAGGTCCAGGCTTGGAGATACTGCCACTGAGAAAGGGCTCTTAGGGATGGGATCCCCTCCATAAGTGACATTGACGCCTACTGGACCCTGGGAAGGGTGCAGAAGGGAAGGGGGTATTTAGAGACACCAGAATTGCTCCCCAACCCCCTCCTGGACCTCCATGCCTGTCCTCTCCCAGGTAAGGAATGAGAGTGGGCAGAAAGTCCCTCGGAGCTGTCCCCTAGGCTGCTGCATGAGGAGGCTGGGGACTCGGTGACTAGTGGAGGGTGTGGCTACCTGCTGGACAGGCGTGTACTTGACTGTGTAGGTGTTGTCATGGTGGTCGATGATGTCCACATCTCGCACTGCATCCCCCTTGGTGAGTCCTGAGAACTGGACGTCCAGCTTGCCTTTGCCAGCAGCTTTGGCATTTACTGTGAAGTGGGTGGGCTTGCCAAGCTCGACACCTGAGGAACACACAGGGACCATGTAGGGGCACCCTGCCCCAAGCCCTCCTACCCTTGATGCCCCGCAACCTGCCATGGGGTACCTGTCCTCACCAGTGCGACTGAGGCCAGGGCCCTCGGCCTTCACCTTACTGGCGTCATGAGAGGGCTCCACCTTGACTCGGATGGGGCTGGTGGGCGTGGCCTGCAGGCAGTGGGAGGAGAAGGCCTTAGAGGAGGGCAGACGTCATCCGCAATGACATCTTAGCGGCCAGGAGCGCAGCACCCACCTGGTCAGCAAAGAGGACCATAATGGTGTAGCTGCCAGCCCCCCGGGGCGTGTACTTGACCGTGAAGGTGTCATTGTCATTGCGGATGATGTCGAAGTCGATGTCAGCTTCGGCGGGGCCTACCACTCCAGGGGCACACTTGATGCCGATGCTGACGTCCCCTGCGGCGGGGAGAGGAGCGGAGGCTGAGACCTCGCAGGGACACCCCAGCCACCTGCCCTCCCACCCACAGCCAGGCCTTACCCTGGCCAGCCTCGGCGCAGTCCACAGTGAAGTAGGTGGGCTCGTGGGCCTTGAGCCCTGTCTTGGCTACTCCGGGGCCGTATACTTTGACCTTGTTGGGGTGGCTGCCAGCTCCCACATTCACCTGCAGGGCACAGGGGCAAGGGCAAGGGCATGAGCAGCCTGGAGGAGACTCAGAAGCTCCCTCAGCTACACTGGCAGGCACACAAAATGGTCCAGCTGCCTTGGGAAGAGTCTGGCAGTTCCTCAGTTGACCACAGAGGGACTGTGTGATGCTCCGGTTCACTCCGAGGCAACTACCCAAGAGAAATGAAAGCAAATGTCCACGCAAACACCTGGACTCACTGTTAACAGCACTGTTCATGATCACCAAAGGCAAGCTCATCCTCAATATCTGTTAGCAAGTGAACGGAAAAATGGAATGTGGTCTGGCCACACAATGGAGTATTATGCGGCCATAAAAATAAATGAAGCGGCCGGACGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGCGGACCACCTGGGGTCAGGCGGTTGAGACCAGTCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGAATGGTGGCGTATGCCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGAATTGCTTGAATCTGGCAGGCAGAGGTTGCAGTGAGCTGAGATCACGTCATTGCACTCCAGCCTGGCAATAAGAGCAAAACTCCGGCTCAAAAAAAAAAAACCAGGATGGGCGCGGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGACACCATCCTGGCTAACACAGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCCGGGGGGGTGGCGGGCGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAAGACAATGGTGTGAACCTGGGAGAAAGAGCCTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCGACAGTGTGAGACTCCATCTCAAATAAATAAATAAATAAACAAAATAATTATAAAGGAACAAAGTGCCAAGACATGCCAAACATGAACGAAAACACGGAAAACTTCGTGGTGAGCGAAAGAAGCCAGACACAAAAGGCCACATGGCACACAGTTCCATCTATAGAACATGTCCAGGATAGGCAAAGCCACAGCAGAAAGCAGGTTAGTGGTCACCAGGAGCTGTGGGACAGGGGAGTCAGGATGGTGTGCCACAACCACTTGAAATGGACGAATCGTGTGCTACGTGAATGCTATCGAGATGGACTAAAGGCCNN | benign | 341,908 |
A genetic variant on chromosome X, position 154362344, affects the gene FLNA (filamin A). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | CTGAGCACTTGACTTTGGATGCGTCAAAGCAGGGAACCACGTGGGCCTTGAATGGGGAGCCAGGGATGTGGGTGTCAGCGAAGAGGATGTTGATGTTGTAGTCCCCGGGCTCGGTGGGCACGTAGGACACGGAACATGTGCCATCCCCATTGTCCAAGCACTCGAGCTGCGCCTCACAGGGGCCCTCCACCGTCAGGCCCAGGCCACCTGTGCCGGCGCCCTTGGTGTCGATGGTGAAGCGGGCGGGGGAGCCCGCACTGCCTCCCTGCAGCCCCGGCCCAAACGCCTTCACCTGAGGGAAGAAGGGGTCAGGAGCCAAGGCCACACTATGCCCCGATCCCAGACCTCCTGCTTGACTTTCCACCTGCCTCCCCTTGCCCTGGCTTCCTGCCCTCACCAAACAGGGACACGGGCGGGCCCAGGCTGCCTGCCAGATGGGCCATCCATCAGTCATAAGGACAAAAAGGAGGGCAGGGCGCGGTCACTCACGCCTGTAATCTCAGCCCTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAATCTCGTCTCTACTAAAATTACCAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGTATTGCTTGAAGCCAGGAGGCGGAGGGTGCCGTGAGCCAATATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAGAAATTCTTCAACCCTGATGACTTTTTGTGGGTTTCTATTTCCCTCCTCCCCTTTACTCTCACTTAAACAGGGTCAAGGTTGACAGTCTGTCTCAGGAAAAAAAAAAAAAAAAAAGGATTTAGGGCAGGTCTGGAGAAGATGGGGTACCTTTGGGGCCCTCAGAGAGCACAGTGGGTTCTACCCTTAGGGCCTCCCATACCCCAATTACCTTGCTAGGCTTGGTGGGGGCCACAGCTTCCAGAGGAAAGGGGCTGCCAGGCACGGGCACGCCGTCATAGGTCACCTCCACCTCATAGGGCCCTTCCTCACGGGGCAGGAAGCGCACCACACTGTTGTCAGCCCCCAGGCCTGGCTCCACCTTGCAGGGCACCGCTGCACCCGAGGGGCCCACAATCTTGGATGCCACTTTGCCTTGACCACCAGCACCCTTTGATTTGACTGTGAACTCCTGGTCTTTGCCAACGTCCACCTCTGTGGAAACGATGAAAGGAAGGAGAGAGACATGACACCCAGCTCAGCCAATCCCTGGATGTGACAAAGGCCTTTGCGACAAGGGCCCCAACTACTTACTCTCTCCCAGGCCAGACACCTTGATCTTGCTGAGGTCCAGGCTTGGAGATACTGCCACTGAGAAAGGGCTCTTAGGGATGGGATCCCCTCCATAAGTGACATTGACGCCTACTGGACCCTGGGAAGGGTGCAGAAGGGAAGGGGGTATTTAGAGACACCAGAATTGCTCCCCAACCCCCTCCTGGACCTCCATGCCTGTCCTCTCCCAGGTAAGGAATGAGAGTGGGCAGAAAGTCCCTCGGAGCTGTCCCCTAGGCTGCTGCATGAGGAGGCTGGGGACTCGGTGACTGTAGTGGAGGGTGTGGCTACCTGCTGGACAGGCGTGTACTTGACTGTGTAGGTGTTGTCATGGTGGTCGATGATGTCCACATCTCGCACTGCATCCCCCTTGGTGAGTCCTGAGAACTGGACGTCCAGCTTGCCTTTGCCAGCAGCTTTGGCATTTACTGTGAAGTGGGTGGGCTTGCCAAGCTCGACACCTGAGGAACACACAGGGACCATGTAGGGGCACCCTGCCCCAAGCCCTCCTACCCTTGATGCCCCGCAACCTGCCATGGGGTACCTGTCCTCACCAGTGCGACTGAGGCCAGGGCCCTCGGCCTTCACCTTACTGGCGTCATGAGAGGGCTCCACCTTGACTCGGATGGGGCTGGTGGGCGTGGCCTGCAGGCAGTGGGAGGAGAAGGCCTTAGAGGAGGGCAGACGTCATCCGCAATGACATCTTAGCGGCCAGGAGCGCAGCACCCACCTGGTCAGCAAAGAGGACCATAATGGTGTAGCTGCCAGCCCCCCGGGGCGTGTACTTGACCGTGAAGGTGTCATTGTCATTGCGGATGATGTCGAAGTCGATGTCAGCTTCGGCGGGGCCTACCACTCCAGGGGCACACTTGATGCCGATGCTGACGTCCCCTGCGGCGGGGAGAGGAGCGGAGGCTGAGACCTCGCAGGGACACCCCAGCCACCTGCCCTCCCACCCACAGCCAGGCCTTACCCTGGCCAGCCTCGGCGCAGTCCACAGTGAAGTAGGTGGGCTCGTGGGCCTTGAGCCCTGTCTTGGCTACTCCGGGGCCGTATACTTTGACCTTGTTGGGGTGGCTGCCAGCTCCCACATTCACCTGCAGGGCACAGGGGCAAGGGCAAGGGCATGAGCAGCCTGGAGGAGACTCAGAAGCTCCCTCAGCTACACTGGCAGGCACACAAAATGGTCCAGCTGCCTTGGGAAGAGTCTGGCAGTTCCTCAGTTGACCACAGAGGGACTGTGTGATGCTCCGGTTCACTCCGAGGCAACTACCCAAGAGAAATGAAAGCAAATGTCCACGCAAACACCTGGACTCACTGTTAACAGCACTGTTCATGATCACCAAAGGCAAGCTCATCCTCAATATCTGTTAGCAAGTGAACGGAAAAATGGAATGTGGTCTGGCCACACAATGGAGTATTATGCGGCCATAAAAATAAATGAAGCGGCCGGACGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGCGGACCACCTGGGGTCAGGCGGTTGAGACCAGTCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGAATGGTGGCGTATGCCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGAATTGCTTGAATCTGGCAGGCAGAGGTTGCAGTGAGCTGAGATCACGTCATTGCACTCCAGCCTGGCAATAAGAGCAAAACTCCGGCTCAAAAAAAAAAAACCAGGATGGGCGCGGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGACACCATCCTGGCTAACACAGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCCGGGGGGGTGGCGGGCGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAAGACAATGGTGTGAACCTGGGAGAAAGAGCCTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCGACAGTGTGAGACTCCATCTCAAATAAATAAATAAATAAACAAAATAATTATAAAGGAACAAAGTGCCAAGACATGCCAAACATGAACGAAAACACGGAAAACTTCGTGGTGAGCGAAAGAAGCCAGACACAAAAGGCCACATGGCACACAGTTCCATCTATAGAACATGTCCAGGATAGGCAAAGCCACAGCAGAAAGCAGGTTAGTGGTCACCAGGAGCTGTGGGACAGGGGAGTCAGGATGGTGTGCCACAACCACTTGAAATGGACGAATCGTGTGCTACGTGAATGCTATCGAGATGGACTAAAGGCCGGTGGAGGTTGGCTCACCCTGAAGGGGCTGTTGGGGATGCTGACGCCTCCCCAGGACACCATGGCTGTGTGCTTCACCGGCTTCCTGGGCACGTAGGAGCAGCTGTAAGTGCCATTGCCGTTGTCCTTGACCAACGCCTCCACAGGGCAGCCTTCATTGTCCTGTCAGGCAGATAGGAGCAGGTGGCCTGCTGGTCAGTGCCCAGGCCTGGGTGCCCACACCTGCCCTGCCCCCAACACCCGTGGGTGCTCTACCTGGACTTGGACCCGAAGTGGGGCCTTGCCACCGTGCTTGGCATCCACTGTGAACTCTGCTGGCTTGTTGACGGCCACACCTGTCTTCTCCAATCCAGGCCCACGTGCCTTCACCTAGCGGGAGACCACCCAG | CTGAGCACTTGACTTTGGATGCGTCAAAGCAGGGAACCACGTGGGCCTTGAATGGGGAGCCAGGGATGTGGGTGTCAGCGAAGAGGATGTTGATGTTGTAGTCCCCGGGCTCGGTGGGCACGTAGGACACGGAACATGTGCCATCCCCATTGTCCAAGCACTCGAGCTGCGCCTCACAGGGGCCCTCCACCGTCAGGCCCAGGCCACCTGTGCCGGCGCCCTTGGTGTCGATGGTGAAGCGGGCGGGGGAGCCCGCACTGCCTCCCTGCAGCCCCGGCCCAAACGCCTTCACCTGAGGGAAGAAGGGGTCAGGAGCCAAGGCCACACTATGCCCCGATCCCAGACCTCCTGCTTGACTTTCCACCTGCCTCCCCTTGCCCTGGCTTCCTGCCCTCACCAAACAGGGACACGGGCGGGCCCAGGCTGCCTGCCAGATGGGCCATCCATCAGTCATAAGGACAAAAAGGAGGGCAGGGCGCGGTCACTCACGCCTGTAATCTCAGCCCTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAATCTCGTCTCTACTAAAATTACCAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGTATTGCTTGAAGCCAGGAGGCGGAGGGTGCCGTGAGCCAATATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAGAAATTCTTCAACCCTGATGACTTTTTGTGGGTTTCTATTTCCCTCCTCCCCTTTACTCTCACTTAAACAGGGTCAAGGTTGACAGTCTGTCTCAGGAAAAAAAAAAAAAAAAAAGGATTTAGGGCAGGTCTGGAGAAGATGGGGTACCTTTGGGGCCCTCAGAGAGCACAGTGGGTTCTACCCTTAGGGCCTCCCATACCCCAATTACCTTGCTAGGCTTGGTGGGGGCCACAGCTTCCAGAGGAAAGGGGCTGCCAGGCACGGGCACGCCGTCATAGGTCACCTCCACCTCATAGGGCCCTTCCTCACGGGGCAGGAAGCGCACCACACTGTTGTCAGCCCCCAGGCCTGGCTCCACCTTGCAGGGCACCGCTGCACCCGAGGGGCCCACAATCTTGGATGCCACTTTGCCTTGACCACCAGCACCCTTTGATTTGACTGTGAACTCCTGGTCTTTGCCAACGTCCACCTCTGTGGAAACGATGAAAGGAAGGAGAGAGACATGACACCCAGCTCAGCCAATCCCTGGATGTGACAAAGGCCTTTGCGACAAGGGCCCCAACTACTTACTCTCTCCCAGGCCAGACACCTTGATCTTGCTGAGGTCCAGGCTTGGAGATACTGCCACTGAGAAAGGGCTCTTAGGGATGGGATCCCCTCCATAAGTGACATTGACGCCTACTGGACCCTGGGAAGGGTGCAGAAGGGAAGGGGGTATTTAGAGACACCAGAATTGCTCCCCAACCCCCTCCTGGACCTCCATGCCTGTCCTCTCCCAGGTAAGGAATGAGAGTGGGCAGAAAGTCCCTCGGAGCTGTCCCCTAGGCTGCTGCATGAGGAGGCTGGGGACTCGGTGACTGTAGTGGAGGGTGTGGCTACCTGCTGGACAGGCGTGTACTTGACTGTGTAGGTGTTGTCATGGTGGTCGATGATGTCCACATCTCGCACTGCATCCCCCTTGGTGAGTCCTGAGAACTGGACGTCCAGCTTGCCTTTGCCAGCAGCTTTGGCATTTACTGTGAAGTGGGTGGGCTTGCCAAGCTCGACACCTGAGGAACACACAGGGACCATGTAGGGGCACCCTGCCCCAAGCCCTCCTACCCTTGATGCCCCGCAACCTGCCATGGGGTACCTGTCCTCACCAGTGCGACTGAGGCCAGGGCCCTCGGCCTTCACCTTACTGGCGTCATGAGAGGGCTCCACCTTGACTCGGATGGGGCTGGTGGGCGTGGCCTGCAGGCAGTGGGAGAAGGCCTTAGAGGAGGGCAGACGTCATCCGCAATGACATCTTAGCGGCCAGGAGCGCAGCACCCACCTGGTCAGCAAAGAGGACCATAATGGTGTAGCTGCCAGCCCCCCGGGGCGTGTACTTGACCGTGAAGGTGTCATTGTCATTGCGGATGATGTCGAAGTCGATGTCAGCTTCGGCGGGGCCTACCACTCCAGGGGCACACTTGATGCCGATGCTGACGTCCCCTGCGGCGGGGAGAGGAGCGGAGGCTGAGACCTCGCAGGGACACCCCAGCCACCTGCCCTCCCACCCACAGCCAGGCCTTACCCTGGCCAGCCTCGGCGCAGTCCACAGTGAAGTAGGTGGGCTCGTGGGCCTTGAGCCCTGTCTTGGCTACTCCGGGGCCGTATACTTTGACCTTGTTGGGGTGGCTGCCAGCTCCCACATTCACCTGCAGGGCACAGGGGCAAGGGCAAGGGCATGAGCAGCCTGGAGGAGACTCAGAAGCTCCCTCAGCTACACTGGCAGGCACACAAAATGGTCCAGCTGCCTTGGGAAGAGTCTGGCAGTTCCTCAGTTGACCACAGAGGGACTGTGTGATGCTCCGGTTCACTCCGAGGCAACTACCCAAGAGAAATGAAAGCAAATGTCCACGCAAACACCTGGACTCACTGTTAACAGCACTGTTCATGATCACCAAAGGCAAGCTCATCCTCAATATCTGTTAGCAAGTGAACGGAAAAATGGAATGTGGTCTGGCCACACAATGGAGTATTATGCGGCCATAAAAATAAATGAAGCGGCCGGACGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGCGGACCACCTGGGGTCAGGCGGTTGAGACCAGTCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGAATGGTGGCGTATGCCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGAATTGCTTGAATCTGGCAGGCAGAGGTTGCAGTGAGCTGAGATCACGTCATTGCACTCCAGCCTGGCAATAAGAGCAAAACTCCGGCTCAAAAAAAAAAAACCAGGATGGGCGCGGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGACACCATCCTGGCTAACACAGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCCGGGGGGGTGGCGGGCGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAAGACAATGGTGTGAACCTGGGAGAAAGAGCCTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCGACAGTGTGAGACTCCATCTCAAATAAATAAATAAATAAACAAAATAATTATAAAGGAACAAAGTGCCAAGACATGCCAAACATGAACGAAAACACGGAAAACTTCGTGGTGAGCGAAAGAAGCCAGACACAAAAGGCCACATGGCACACAGTTCCATCTATAGAACATGTCCAGGATAGGCAAAGCCACAGCAGAAAGCAGGTTAGTGGTCACCAGGAGCTGTGGGACAGGGGAGTCAGGATGGTGTGCCACAACCACTTGAAATGGACGAATCGTGTGCTACGTGAATGCTATCGAGATGGACTAAAGGCCGGTGGAGGTTGGCTCACCCTGAAGGGGCTGTTGGGGATGCTGACGCCTCCCCAGGACACCATGGCTGTGTGCTTCACCGGCTTCCTGGGCACGTAGGAGCAGCTGTAAGTGCCATTGCCGTTGTCCTTGACCAACGCCTCCACAGGGCAGCCTTCATTGTCCTGTCAGGCAGATAGGAGCAGGTGGCCTGCTGGTCAGTGCCCAGGCCTGGGTGCCCACACCTGCCCTGCCCCCAACACCCGTGGGTGCTCTACCTGGACTTGGACCCGAAGTGGGGCCTTGCCACCGTGCTTGGCATCCACTGTGAACTCTGCTGGCTTGTTGACGGCCACACCTGTCTTCTCCAATCCAGGCCCACGTGCCTTCACCTAGCGGGAGACCACCCAGNNN | benign | 341,926 |
Determine whether the variant at chromosome X, position 154364108, in gene FLNA (filamin A) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Frontometaphyseal_dysplasia', 'Heterotopia,_periventricular,_X-linked_dominant', 'Melnick-Needles_syndrome', 'Oto-palato-digital_syndrome,_type_II'] | GGTGAGTCCTGAGAACTGGACGTCCAGCTTGCCTTTGCCAGCAGCTTTGGCATTTACTGTGAAGTGGGTGGGCTTGCCAAGCTCGACACCTGAGGAACACACAGGGACCATGTAGGGGCACCCTGCCCCAAGCCCTCCTACCCTTGATGCCCCGCAACCTGCCATGGGGTACCTGTCCTCACCAGTGCGACTGAGGCCAGGGCCCTCGGCCTTCACCTTACTGGCGTCATGAGAGGGCTCCACCTTGACTCGGATGGGGCTGGTGGGCGTGGCCTGCAGGCAGTGGGAGGAGAAGGCCTTAGAGGAGGGCAGACGTCATCCGCAATGACATCTTAGCGGCCAGGAGCGCAGCACCCACCTGGTCAGCAAAGAGGACCATAATGGTGTAGCTGCCAGCCCCCCGGGGCGTGTACTTGACCGTGAAGGTGTCATTGTCATTGCGGATGATGTCGAAGTCGATGTCAGCTTCGGCGGGGCCTACCACTCCAGGGGCACACTTGATGCCGATGCTGACGTCCCCTGCGGCGGGGAGAGGAGCGGAGGCTGAGACCTCGCAGGGACACCCCAGCCACCTGCCCTCCCACCCACAGCCAGGCCTTACCCTGGCCAGCCTCGGCGCAGTCCACAGTGAAGTAGGTGGGCTCGTGGGCCTTGAGCCCTGTCTTGGCTACTCCGGGGCCGTATACTTTGACCTTGTTGGGGTGGCTGCCAGCTCCCACATTCACCTGCAGGGCACAGGGGCAAGGGCAAGGGCATGAGCAGCCTGGAGGAGACTCAGAAGCTCCCTCAGCTACACTGGCAGGCACACAAAATGGTCCAGCTGCCTTGGGAAGAGTCTGGCAGTTCCTCAGTTGACCACAGAGGGACTGTGTGATGCTCCGGTTCACTCCGAGGCAACTACCCAAGAGAAATGAAAGCAAATGTCCACGCAAACACCTGGACTCACTGTTAACAGCACTGTTCATGATCACCAAAGGCAAGCTCATCCTCAATATCTGTTAGCAAGTGAACGGAAAAATGGAATGTGGTCTGGCCACACAATGGAGTATTATGCGGCCATAAAAATAAATGAAGCGGCCGGACGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGCGGACCACCTGGGGTCAGGCGGTTGAGACCAGTCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGAATGGTGGCGTATGCCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGAATTGCTTGAATCTGGCAGGCAGAGGTTGCAGTGAGCTGAGATCACGTCATTGCACTCCAGCCTGGCAATAAGAGCAAAACTCCGGCTCAAAAAAAAAAAACCAGGATGGGCGCGGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGACACCATCCTGGCTAACACAGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCCGGGGGGGTGGCGGGCGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAAGACAATGGTGTGAACCTGGGAGAAAGAGCCTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCGACAGTGTGAGACTCCATCTCAAATAAATAAATAAATAAACAAAATAATTATAAAGGAACAAAGTGCCAAGACATGCCAAACATGAACGAAAACACGGAAAACTTCGTGGTGAGCGAAAGAAGCCAGACACAAAAGGCCACATGGCACACAGTTCCATCTATAGAACATGTCCAGGATAGGCAAAGCCACAGCAGAAAGCAGGTTAGTGGTCACCAGGAGCTGTGGGACAGGGGAGTCAGGATGGTGTGCCACAACCACTTGAAATGGACGAATCGTGTGCTACGTGAATGCTATCGAGATGGACTAAAGGCCGGTGGAGGTTGGCTCACCCTGAAGGGGCTGTTGGGGATGCTGACGCCTCCCCAGGACACCATGGCTGTGTGCTTCACCGGCTTCCTGGGCACGTAGGAGCAGCTGTAAGTGCCATTGCCGTTGTCCTTGACCAACGCCTCCACAGGGCAGCCTTCATTGTCCTGTCAGGCAGATAGGAGCAGGTGGCCTGCTGGTCAGTGCCCAGGCCTGGGTGCCCACACCTGCCCTGCCCCCAACACCCGTGGGTGCTCTACCTGGACTTGGACCCGAAGTGGGGCCTTGCCACCGTGCTTGGCATCCACTGTGAACTCTGCTGGCTTGTTGACGGCCACACCTGTCTTCTCCAATCCAGGCCCACGTGCCTTCACCTAGCGGGAGACCACCCAGCTGTCAGGGGGCCAGGTCCAGGCTGCCAGAGCTACAACCCAGGCAGGGTGGCCAGGGACACAGAGTGCCATCCCCACCAGACCCCAAGCAGGAGCAGCAGGGCGAGACTTAGGCCATCACAGCCTGCTCTTTACCCTGTCTGGGTGGAAGTCCTGGGGCGCGTCACGGATGTCAGCCATGAAGGGGCTGAGGCGGATGTCTTCGCTGTTGCACAGCACGTGAACGGCATACTCGCCAGCCTCCTGCGGCCAGTAGCGCACATCACAGGAGCCGTCGCCCTTGTCGTCACATTCGATCTTAGCCTGCGATGGCCCTTCCACCGAGAAGCCTGACAACAGCCACCAGTCCCCTCAGTGCCCTGGAGCCTCAGGGTGGGCCGTCCTTGCCATCGTCTGTCCCCAGGTGCCCATGCTGCAGCCTCCAACTTACCCAGCGTGCCCACGTCGTCCCCGATAGCCTCCACCACAAAGTCTGCTGACTTGCCAACGACGCCGCCCTCCAGCCCAGGGCCCCAGGCCCGTACCTTCTGATTGCCACACTCGGTGCCCACCTTCACTTCGAAGGGACTGCAAATGCGAGAGCCACACAGGGAACACCGAGGATCACCACATGAGCCAGCGTGGGCCCCACTGTGGCGGCCAGGCAGGAAGAGCCCATGTGGCCCCTCATCATCAGGTGGGGAGGCAGAAGGAAGAGAAGAGGCAGAGTGTGCAGAGCTGGGAGAGGGATGCCTGGGGGCCTCACCTGCGCCCGATGTTCTGACCACCCCACGTGATGGTGACGATATAGGTTCCAGGGACCATGGGGTAATACTCGAAGCCATACACGCCATCCCCCAGGTCCTTCTGCTTCACGCGCTCCTCTCCCTCTGCCAAGACAAGGAGGGCCTCAGGCCTGCCCAGCAGTGAACCCGGGGGCTGCCGCCACCCATCCTGGCCTGGCTCCAGGCCAACTTACTGGGGCCCTTCACGGTGACCTTCAGCTCCCCACTGCCAGCGCCCTTTGTGTACACCTTGAAGTCAGCTGTCTCCTTCACCCGCACACCCTTGGGCTGGAGGCCCCGGCCAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCCTCCCACCTGCTCCACACCAGCCCAGAGCCCCCCACCCTCCCCCTTCCAAGAAGAAGACAGATCCAAGTACCGTTGACCCTGTGGGCAGAGCAGAGAGCAGCAGGTTTCTAGACAGCTGGAGCGAGCTCTTCCGAAGGTGAAAGCGTGAGGAGAGAGATGGAGAGGGGCGAGGAGAGGAGAGGAGGAAGGGCCCCAGCAGGGGAGGAAAAACAGCATGTGCCCAGACAGTAGAAGCTCAAAGAGTAGGGGCCCCGGGGCGGGCTGCAGCGGGACTGGCCCAGGGGGTCCCCCTCCTGTGGGAGGCCCAGACTGCAGTGCCACAGCAGAGGGCAGTCAGGGCCGGGCCTACCTTGGCCAACAGTGACAGTGTAGGGGCTGCGAGGGATGGGCACGCCGGCAAACGTGACGTGCACGGTGTGGACGCCCTCCATGGTGGGCTGGTAGCTGCAGCGGTATGTGCTGTCGCCCCGGGCCTCCAGCT | GGTGAGTCCTGAGAACTGGACGTCCAGCTTGCCTTTGCCAGCAGCTTTGGCATTTACTGTGAAGTGGGTGGGCTTGCCAAGCTCGACACCTGAGGAACACACAGGGACCATGTAGGGGCACCCTGCCCCAAGCCCTCCTACCCTTGATGCCCCGCAACCTGCCATGGGGTACCTGTCCTCACCAGTGCGACTGAGGCCAGGGCCCTCGGCCTTCACCTTACTGGCGTCATGAGAGGGCTCCACCTTGACTCGGATGGGGCTGGTGGGCGTGGCCTGCAGGCAGTGGGAGGAGAAGGCCTTAGAGGAGGGCAGACGTCATCCGCAATGACATCTTAGCGGCCAGGAGCGCAGCACCCACCTGGTCAGCAAAGAGGACCATAATGGTGTAGCTGCCAGCCCCCCGGGGCGTGTACTTGACCGTGAAGGTGTCATTGTCATTGCGGATGATGTCGAAGTCGATGTCAGCTTCGGCGGGGCCTACCACTCCAGGGGCACACTTGATGCCGATGCTGACGTCCCCTGCGGCGGGGAGAGGAGCGGAGGCTGAGACCTCGCAGGGACACCCCAGCCACCTGCCCTCCCACCCACAGCCAGGCCTTACCCTGGCCAGCCTCGGCGCAGTCCACAGTGAAGTAGGTGGGCTCGTGGGCCTTGAGCCCTGTCTTGGCTACTCCGGGGCCGTATACTTTGACCTTGTTGGGGTGGCTGCCAGCTCCCACATTCACCTGCAGGGCACAGGGGCAAGGGCAAGGGCATGAGCAGCCTGGAGGAGACTCAGAAGCTCCCTCAGCTACACTGGCAGGCACACAAAATGGTCCAGCTGCCTTGGGAAGAGTCTGGCAGTTCCTCAGTTGACCACAGAGGGACTGTGTGATGCTCCGGTTCACTCCGAGGCAACTACCCAAGAGAAATGAAAGCAAATGTCCACGCAAACACCTGGACTCACTGTTAACAGCACTGTTCATGATCACCAAAGGCAAGCTCATCCTCAATATCTGTTAGCAAGTGAACGGAAAAATGGAATGTGGTCTGGCCACACAATGGAGTATTATGCGGCCATAAAAATAAATGAAGCGGCCGGACGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGCGGACCACCTGGGGTCAGGCGGTTGAGACCAGTCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGAATGGTGGCGTATGCCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGAATTGCTTGAATCTGGCAGGCAGAGGTTGCAGTGAGCTGAGATCACGTCATTGCACTCCAGCCTGGCAATAAGAGCAAAACTCCGGCTCAAAAAAAAAAAACCAGGATGGGCGCGGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGACACCATCCTGGCTAACACAGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCCGGGGGGGTGGCGGGCGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAAGACAATGGTGTGAACCTGGGAGAAAGAGCCTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCGACAGTGTGAGACTCCATCTCAAATAAATAAATAAATAAACAAAATAATTATAAAGGAACAAAGTGCCAAGACATGCCAAACATGAACGAAAACACGGAAAACTTCGTGGTGAGCGAAAGAAGCCAGACACAAAAGGCCACATGGCACACAGTTCCATCTATAGAACATGTCCAGGATAGGCAAAGCCACAGCAGAAAGCAGGTTAGTGGTCACCAGGAGCTGTGGGACAGGGGAGTCAGGATGGTGTGCCACAACCACTTGAAATGGACGAATCGTGTGCTACGTGAATGCTATCGAGATGGACTAAAGGCCGGTGGAGGTTGGCTCACCCTGAAGGGGCTGTTGGGGATGCTGACGCCTCCCCAGGACACCATGGCTGTGTGCTTCACCGGCTTCCTGGGCACGTAGGAGCAGCTGTGCCATTGCCGTTGTCCTTGACCAACGCCTCCACAGGGCAGCCTTCATTGTCCTGTCAGGCAGATAGGAGCAGGTGGCCTGCTGGTCAGTGCCCAGGCCTGGGTGCCCACACCTGCCCTGCCCCCAACACCCGTGGGTGCTCTACCTGGACTTGGACCCGAAGTGGGGCCTTGCCACCGTGCTTGGCATCCACTGTGAACTCTGCTGGCTTGTTGACGGCCACACCTGTCTTCTCCAATCCAGGCCCACGTGCCTTCACCTAGCGGGAGACCACCCAGCTGTCAGGGGGCCAGGTCCAGGCTGCCAGAGCTACAACCCAGGCAGGGTGGCCAGGGACACAGAGTGCCATCCCCACCAGACCCCAAGCAGGAGCAGCAGGGCGAGACTTAGGCCATCACAGCCTGCTCTTTACCCTGTCTGGGTGGAAGTCCTGGGGCGCGTCACGGATGTCAGCCATGAAGGGGCTGAGGCGGATGTCTTCGCTGTTGCACAGCACGTGAACGGCATACTCGCCAGCCTCCTGCGGCCAGTAGCGCACATCACAGGAGCCGTCGCCCTTGTCGTCACATTCGATCTTAGCCTGCGATGGCCCTTCCACCGAGAAGCCTGACAACAGCCACCAGTCCCCTCAGTGCCCTGGAGCCTCAGGGTGGGCCGTCCTTGCCATCGTCTGTCCCCAGGTGCCCATGCTGCAGCCTCCAACTTACCCAGCGTGCCCACGTCGTCCCCGATAGCCTCCACCACAAAGTCTGCTGACTTGCCAACGACGCCGCCCTCCAGCCCAGGGCCCCAGGCCCGTACCTTCTGATTGCCACACTCGGTGCCCACCTTCACTTCGAAGGGACTGCAAATGCGAGAGCCACACAGGGAACACCGAGGATCACCACATGAGCCAGCGTGGGCCCCACTGTGGCGGCCAGGCAGGAAGAGCCCATGTGGCCCCTCATCATCAGGTGGGGAGGCAGAAGGAAGAGAAGAGGCAGAGTGTGCAGAGCTGGGAGAGGGATGCCTGGGGGCCTCACCTGCGCCCGATGTTCTGACCACCCCACGTGATGGTGACGATATAGGTTCCAGGGACCATGGGGTAATACTCGAAGCCATACACGCCATCCCCCAGGTCCTTCTGCTTCACGCGCTCCTCTCCCTCTGCCAAGACAAGGAGGGCCTCAGGCCTGCCCAGCAGTGAACCCGGGGGCTGCCGCCACCCATCCTGGCCTGGCTCCAGGCCAACTTACTGGGGCCCTTCACGGTGACCTTCAGCTCCCCACTGCCAGCGCCCTTTGTGTACACCTTGAAGTCAGCTGTCTCCTTCACCCGCACACCCTTGGGCTGGAGGCCCCGGCCAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCCTCCCACCTGCTCCACACCAGCCCAGAGCCCCCCACCCTCCCCCTTCCAAGAAGAAGACAGATCCAAGTACCGTTGACCCTGTGGGCAGAGCAGAGAGCAGCAGGTTTCTAGACAGCTGGAGCGAGCTCTTCCGAAGGTGAAAGCGTGAGGAGAGAGATGGAGAGGGGCGAGGAGAGGAGAGGAGGAAGGGCCCCAGCAGGGGAGGAAAAACAGCATGTGCCCAGACAGTAGAAGCTCAAAGAGTAGGGGCCCCGGGGCGGGCTGCAGCGGGACTGGCCCAGGGGGTCCCCCTCCTGTGGGAGGCCCAGACTGCAGTGCCACAGCAGAGGGCAGTCAGGGCCGGGCCTACCTTGGCCAACAGTGACAGTGTAGGGGCTGCGAGGGATGGGCACGCCGGCAAACGTGACGTGCACGGTGTGGACGCCCTCCATGGTGGGCTGGTAGCTGCAGCGGTATGTGCTGTCGCCCCGGGCCTCCAGCTNNNN | pathogenic | 341,961 |
Variant in FLNA (filamin A), chromosome X, position 154365501—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | GCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGACACCATCCTGGCTAACACAGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCCGGGGGGGTGGCGGGCGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAAGACAATGGTGTGAACCTGGGAGAAAGAGCCTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCGACAGTGTGAGACTCCATCTCAAATAAATAAATAAATAAACAAAATAATTATAAAGGAACAAAGTGCCAAGACATGCCAAACATGAACGAAAACACGGAAAACTTCGTGGTGAGCGAAAGAAGCCAGACACAAAAGGCCACATGGCACACAGTTCCATCTATAGAACATGTCCAGGATAGGCAAAGCCACAGCAGAAAGCAGGTTAGTGGTCACCAGGAGCTGTGGGACAGGGGAGTCAGGATGGTGTGCCACAACCACTTGAAATGGACGAATCGTGTGCTACGTGAATGCTATCGAGATGGACTAAAGGCCGGTGGAGGTTGGCTCACCCTGAAGGGGCTGTTGGGGATGCTGACGCCTCCCCAGGACACCATGGCTGTGTGCTTCACCGGCTTCCTGGGCACGTAGGAGCAGCTGTAAGTGCCATTGCCGTTGTCCTTGACCAACGCCTCCACAGGGCAGCCTTCATTGTCCTGTCAGGCAGATAGGAGCAGGTGGCCTGCTGGTCAGTGCCCAGGCCTGGGTGCCCACACCTGCCCTGCCCCCAACACCCGTGGGTGCTCTACCTGGACTTGGACCCGAAGTGGGGCCTTGCCACCGTGCTTGGCATCCACTGTGAACTCTGCTGGCTTGTTGACGGCCACACCTGTCTTCTCCAATCCAGGCCCACGTGCCTTCACCTAGCGGGAGACCACCCAGCTGTCAGGGGGCCAGGTCCAGGCTGCCAGAGCTACAACCCAGGCAGGGTGGCCAGGGACACAGAGTGCCATCCCCACCAGACCCCAAGCAGGAGCAGCAGGGCGAGACTTAGGCCATCACAGCCTGCTCTTTACCCTGTCTGGGTGGAAGTCCTGGGGCGCGTCACGGATGTCAGCCATGAAGGGGCTGAGGCGGATGTCTTCGCTGTTGCACAGCACGTGAACGGCATACTCGCCAGCCTCCTGCGGCCAGTAGCGCACATCACAGGAGCCGTCGCCCTTGTCGTCACATTCGATCTTAGCCTGCGATGGCCCTTCCACCGAGAAGCCTGACAACAGCCACCAGTCCCCTCAGTGCCCTGGAGCCTCAGGGTGGGCCGTCCTTGCCATCGTCTGTCCCCAGGTGCCCATGCTGCAGCCTCCAACTTACCCAGCGTGCCCACGTCGTCCCCGATAGCCTCCACCACAAAGTCTGCTGACTTGCCAACGACGCCGCCCTCCAGCCCAGGGCCCCAGGCCCGTACCTTCTGATTGCCACACTCGGTGCCCACCTTCACTTCGAAGGGACTGCAAATGCGAGAGCCACACAGGGAACACCGAGGATCACCACATGAGCCAGCGTGGGCCCCACTGTGGCGGCCAGGCAGGAAGAGCCCATGTGGCCCCTCATCATCAGGTGGGGAGGCAGAAGGAAGAGAAGAGGCAGAGTGTGCAGAGCTGGGAGAGGGATGCCTGGGGGCCTCACCTGCGCCCGATGTTCTGACCACCCCACGTGATGGTGACGATATAGGTTCCAGGGACCATGGGGTAATACTCGAAGCCATACACGCCATCCCCCAGGTCCTTCTGCTTCACGCGCTCCTCTCCCTCTGCCAAGACAAGGAGGGCCTCAGGCCTGCCCAGCAGTGAACCCGGGGGCTGCCGCCACCCATCCTGGCCTGGCTCCAGGCCAACTTACTGGGGCCCTTCACGGTGACCTTCAGCTCCCCACTGCCAGCGCCCTTTGTGTACACCTTGAAGTCAGCTGTCTCCTTCACCCGCACACCCTTGGGCTGGAGGCCCCGGCCAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCCTCCCACCTGCTCCACACCAGCCCAGAGCCCCCCACCCTCCCCCTTCCAAGAAGAAGACAGATCCAAGTACCGTTGACCCTGTGGGCAGAGCAGAGAGCAGCAGGTTTCTAGACAGCTGGAGCGAGCTCTTCCGAAGGTGAAAGCGTGAGGAGAGAGATGGAGAGGGGCGAGGAGAGGAGAGGAGGAAGGGCCCCAGCAGGGGAGGAAAAACAGCATGTGCCCAGACAGTAGAAGCTCAAAGAGTAGGGGCCCCGGGGCGGGCTGCAGCGGGACTGGCCCAGGGGGTCCCCCTCCTGTGGGAGGCCCAGACTGCAGTGCCACAGCAGAGGGCAGTCAGGGCCGGGCCTACCTTGGCCAACAGTGACAGTGTAGGGGCTGCGAGGGATGGGCACGCCGGCAAACGTGACGTGCACGGTGTGGACGCCCTCCATGGTGGGCTGGTAGCTGCAGCGGTATGTGCTGTCGCCCCGGGCCTCCAGCTGAGGCTCTACCGTGCCCTTCTGTCCCATGGGGTCCTGGATCACAACCTCGACCTCGCCCGTGCCAGCTCCTGCCACGAGGCACCTGCTCAGCTCCCAGGCCCCAGTGCGGCTCTCCCCACAGACCAGCTGGGCCTTGGCAGCCTCCCCTCACCTGCCGTAAAGATCTCAAAGTAGGTGGTCTTGTTGGCGATGTTGCCACTGGGCTCCAGGCCGGGACCTTGGGCTGTCACTTTGCTGGCGTCACCCTGTGACTTATCCACGTACACCTCGAAGGGGCTCTTGGCGATGTGCTGGCCAGCAAAGAGCACAGTAACCTGTCCCCAGAAGGGTGGGCCGTGAGGGTAGGGCTGGGGGCCTCCAGCCACTGCCTGAGGTCACAAGCCTCCCCCCTGGCCAAGGGCTCACCTTATGAGTCCCCGTCACCTCGGGGACGTACCAGACGGAGAAGGTGCGGTTCTTGTCGTTATTGGCGGTCACTTTTGCCTGCAGTGGGAAGGAGCCTGTGAGCCTTTGCTAAGAGCAGCCCCACTGAAAGGGAGCGCTGCGGGGCCTCTGCTGCCAGCAGCTGGCCCTACCTCCTCCTGGTGTCCGGCCGGGTCCTCCACGTACACCAGCACCTCTCCCTGGCCAGCACTTCTGGTCTCCACAGTGAACTCTGCCCGCTTCTTCACCATGTTGCCTGTGGGCTCGATGCCTGGCAGGGGAAGGCGAGCCAACCACGGGCCAGCTGTTAAGGCCACAGCCTCACCCCTCCACCCTTCAGCCCTCCCTGCTGGCCCCTAAGTCAGGCACATTCCAAACTGGGCAAGTTCATTCAGTGTGAGCTGTGGCACAGAGCCTGGCCTCGGGACCCAGCTGTGCTCTCGCTGCTGGGACAGGCCCAGCCTGTTTTCTGGAACATTCATTCTCACCGCACTGGGCCCTTGTTCCTGTGTGAGCCTTGACTGGGTTTTAGGTCCCTGTTACTGAGACCTGGTTCATCTCCATTTATAATAAAGACCGCTGGATGCTACCTCCCCGAGGACCCCACGCAGCAGGCTTCTGTGACTGGAGGAACCTATTAGCATTCTCTTGTCGTTTTCACTAGTCCCAAAAACCCACTCTTGTCTGACTCTTGGGTGGCTTGATCACCTAGCCGCCATGTAACCCAAGACCCCTGGGGACCGCCACGTTTAGATGGGACACTGTCTTATGGGGAAGACGTTGGCACACGGGTGCACCCCTGGTGGGGCTCCCTCACCTGGCCCGTAGGCACGGGCTTTCTTCGGGTTCAGTTTGGGCCGCAAGGGAGCCCCTGGCTTCAGCTTGGCCTTGGGGAACTGGGACAGGTAGGTCATGACAGAGTGCTCGTCCACGTTGGGGTCCACAATCTCCTCGGGGGTGATCACCTGT | GCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGACACCATCCTGGCTAACACAGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCCGGGGGGGTGGCGGGCGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAAGACAATGGTGTGAACCTGGGAGAAAGAGCCTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCGACAGTGTGAGACTCCATCTCAAATAAATAAATAAATAAACAAAATAATTATAAAGGAACAAAGTGCCAAGACATGCCAAACATGAACGAAAACACGGAAAACTTCGTGGTGAGCGAAAGAAGCCAGACACAAAAGGCCACATGGCACACAGTTCCATCTATAGAACATGTCCAGGATAGGCAAAGCCACAGCAGAAAGCAGGTTAGTGGTCACCAGGAGCTGTGGGACAGGGGAGTCAGGATGGTGTGCCACAACCACTTGAAATGGACGAATCGTGTGCTACGTGAATGCTATCGAGATGGACTAAAGGCCGGTGGAGGTTGGCTCACCCTGAAGGGGCTGTTGGGGATGCTGACGCCTCCCCAGGACACCATGGCTGTGTGCTTCACCGGCTTCCTGGGCACGTAGGAGCAGCTGTAAGTGCCATTGCCGTTGTCCTTGACCAACGCCTCCACAGGGCAGCCTTCATTGTCCTGTCAGGCAGATAGGAGCAGGTGGCCTGCTGGTCAGTGCCCAGGCCTGGGTGCCCACACCTGCCCTGCCCCCAACACCCGTGGGTGCTCTACCTGGACTTGGACCCGAAGTGGGGCCTTGCCACCGTGCTTGGCATCCACTGTGAACTCTGCTGGCTTGTTGACGGCCACACCTGTCTTCTCCAATCCAGGCCCACGTGCCTTCACCTAGCGGGAGACCACCCAGCTGTCAGGGGGCCAGGTCCAGGCTGCCAGAGCTACAACCCAGGCAGGGTGGCCAGGGACACAGAGTGCCATCCCCACCAGACCCCAAGCAGGAGCAGCAGGGCGAGACTTAGGCCATCACAGCCTGCTCTTTACCCTGTCTGGGTGGAAGTCCTGGGGCGCGTCACGGATGTCAGCCATGAAGGGGCTGAGGCGGATGTCTTCGCTGTTGCACAGCACGTGAACGGCATACTCGCCAGCCTCCTGCGGCCAGTAGCGCACATCACAGGAGCCGTCGCCCTTGTCGTCACATTCGATCTTAGCCTGCGATGGCCCTTCCACCGAGAAGCCTGACAACAGCCACCAGTCCCCTCAGTGCCCTGGAGCCTCAGGGTGGGCCGTCCTTGCCATCGTCTGTCCCCAGGTGCCCATGCTGCAGCCTCCAACTTACCCAGCGTGCCCACGTCGTCCCCGATAGCCTCCACCACAAAGTCTGCTGACTTGCCAACGACGCCGCCCTCCAGCCCAGGGCCCCAGGCCCGTACCTTCTGATTGCCACACTCGGTGCCCACCTTCACTTCGAAGGGACTGCAAATGCGAGAGCCACACAGGGAACACCGAGGATCACCACATGAGCCAGCGTGGGCCCCACTGTGGCGGCCAGGCAGGAAGAGCCCATGTGGCCCCTCATCATCAGGTGGGGAGGCAGAAGGAAGAGAAGAGGCAGAGTGTGCAGAGCTGGGAGAGGGATGCCTGGGGGCCTCACCTGCGCCCGATGTTCTGACCACCCCACGTGATGGTGACGATATAGGTTCCAGGGACCATGGGGTAATACTCGAAGCCATACACGCCATCCCCCAGGTCCTTCTGCTTCACGCGCTCCTCTCCCTCTGCCAAGACAAGGAGGGCCTCAGGCCTGCCCAGCAGTGAACCCGGGGGCTGCCGCCACCCATCCTGGCCTGGCTCCAGGCCAACTTACTGGGGCCCTTCACGGTGACCTTCAGCTCCCCACTGCCAGCGCCCTTTGTGTACACCTTGAAGTCAGCTGTCTCCTTCACCCGCACACCCTTGGGCTGGAGGCCCCGGCCAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCCTCCCACCTGCTCCACACCAGCCCAGAGCCCCCCACCCTCCCCCTTCCAAGAAGAAGACAGATCCAAGTACCGTTGACCCTGTGGGCAGAGCAGAGAGCAGCAGGTTTCTAGACAGCTGGAGCGAGCTCTTCCGAAGGTGAAAGCGTGAGGAGAGAGATGGAGAGGGGCGAGGAGAGGAGAGGAGGAAGGGCCCCAGCAGGGGAGGAAAAACAGCATGTGCCCAGACAGTAGAAGCTCAAAGAGTAGGGGCCCCGGGGCGGGCTGCAGCGGGACTGGCCCAGGGGGTCCCCCTCCTGTGGGAGGCCCAGACTGCAGTGCCACAGCAGAGGGCAGTCAGGGCCGGGCCTACCTTGGCCAACAGTGACAGTGTAGGGGCTGCGAGGGATGGGCACGCCGGCAAACGTGACGTGCACGGTGTGGACGCCCTCCATGGTGGGCTGGTAGCTGCAGCGGTATGTGCTGTCGCCCCGGGCCTCCAGCTGAGGCTCTACCGTGCCCTTCTGTCCCATGGGGTCCTGGATCACAACCTCGACCTCGCCCGTGCCAGCTCCTGCCACGAGGCACCTGCTCAGCTCCCAGGCCCCAGTGCGGCTCTCCCCACAGACCAGCTGGGCCTTGGCAGCCTCCCCTCACCTGCCGTAAAGATCTCAAAGTAGGTGGTCTTGTTGGCGATGTTGCCACTGGGCTCCAGGCCGGGACCTTGGGCTGTCACTTTGCTGGCGTCACCCTGTGACTTATCCACGTACACCTCGAAGGGGCTCTTGGCGATGTGCTGGCCAGCAAAGAGCACAGTAACCTGTCCCCAGAAGGGTGGGCCGTGAGGGTAGGGCTGGGGGCCTCCAGCCACTGCCTGAGGTCACAAGCCTCCCCCCTGGCCAAGGGCTCACCTTATGAGTCCCCGTCACCTCGGGGACGTACCAGACGGAGAAGGTGCGGTTCTTGTCGTTATTGGCGGTCACTTTTGCCTGCAGTGGGAAGGAGCCTGTGAGCCTTTGCTAAGAGCAGCCCCACTGAAAGGGAGCGCTGCGGGGCCTCTGCTGCCAGCAGCTGGCCCTACCTCCTCCTGGTGTCCGGCCGGGTCCTCCACGTACACCAGCACCTCTCCCTGGCCAGCACTTCTGGTCTCCACAGTGAACTCTGCCCGCTTCTTCACCATGTTGCCTGTGGGCTCGATGCCTGGCAGGGGAAGGCGAGCCAACCACGGGCCAGCTGTTAAGGCCACAGCCTCACCCCTCCACCCTTCAGCCCTCCCTGCTGGCCCCTAAGTCAGGCACATTCCAAACTGGGCAAGTTCATTCAGTGTGAGCTGTGGCACAGAGCCTGGCCTCGGGACCCAGCTGTGCTCTCGCTGCTGGGACAGGCCCAGCCTGTTTTCTGGAACATTCATTCTCACCGCACTGGGCCCTTGTTCCTGTGTGAGCCTTGACTGGGTTTTAGGTCCCTGTTACTGAGACCTGGTTCATCTCCATTTATAATAAAGACCGCTGGATGCTACCTCCCCGAGGACCCCACGCAGCAGGCTTCTGTGACTGGAGGAACCTATTAGCATTCTCTTGTCGTTTTCACTAGTCCCAAAAACCCACTCTTGTCTGACTCTTGGGTGGCTTGATCACCTAGCCGCCATGTAACCCAAGACCCCTGGGGACCGCCACGTTTAGATGGGACACTGTCTTATGGGGAAGACGTTGGCACACGGGTGCACCCCTGGTGGGGCTCCCTCACCTGGCCCGTAGGCACGGGCTTTCTTCGGGTTCAGTTTGGGCCGCAAGGGAGCCCCTGGCTTCAGCTTGGCCTTGGGGAACTGGGACAGGTAGGTCATGACAGAGTGCTCGTCCACGTTGGGGTCCACAATCTCCTCGGGGGTGATCACCTGTN | benign | 342,026 |
Assess the variant on chromosome X, position 154366401, impacting FLNA (filamin A): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Frontometaphyseal_dysplasia', 'Heterotopia,_periventricular,_X-linked_dominant', 'Melnick-Needles_syndrome', 'Oto-palato-digital_syndrome,_type_II'] | CCAGGCCCACGTGCCTTCACCTAGCGGGAGACCACCCAGCTGTCAGGGGGCCAGGTCCAGGCTGCCAGAGCTACAACCCAGGCAGGGTGGCCAGGGACACAGAGTGCCATCCCCACCAGACCCCAAGCAGGAGCAGCAGGGCGAGACTTAGGCCATCACAGCCTGCTCTTTACCCTGTCTGGGTGGAAGTCCTGGGGCGCGTCACGGATGTCAGCCATGAAGGGGCTGAGGCGGATGTCTTCGCTGTTGCACAGCACGTGAACGGCATACTCGCCAGCCTCCTGCGGCCAGTAGCGCACATCACAGGAGCCGTCGCCCTTGTCGTCACATTCGATCTTAGCCTGCGATGGCCCTTCCACCGAGAAGCCTGACAACAGCCACCAGTCCCCTCAGTGCCCTGGAGCCTCAGGGTGGGCCGTCCTTGCCATCGTCTGTCCCCAGGTGCCCATGCTGCAGCCTCCAACTTACCCAGCGTGCCCACGTCGTCCCCGATAGCCTCCACCACAAAGTCTGCTGACTTGCCAACGACGCCGCCCTCCAGCCCAGGGCCCCAGGCCCGTACCTTCTGATTGCCACACTCGGTGCCCACCTTCACTTCGAAGGGACTGCAAATGCGAGAGCCACACAGGGAACACCGAGGATCACCACATGAGCCAGCGTGGGCCCCACTGTGGCGGCCAGGCAGGAAGAGCCCATGTGGCCCCTCATCATCAGGTGGGGAGGCAGAAGGAAGAGAAGAGGCAGAGTGTGCAGAGCTGGGAGAGGGATGCCTGGGGGCCTCACCTGCGCCCGATGTTCTGACCACCCCACGTGATGGTGACGATATAGGTTCCAGGGACCATGGGGTAATACTCGAAGCCATACACGCCATCCCCCAGGTCCTTCTGCTTCACGCGCTCCTCTCCCTCTGCCAAGACAAGGAGGGCCTCAGGCCTGCCCAGCAGTGAACCCGGGGGCTGCCGCCACCCATCCTGGCCTGGCTCCAGGCCAACTTACTGGGGCCCTTCACGGTGACCTTCAGCTCCCCACTGCCAGCGCCCTTTGTGTACACCTTGAAGTCAGCTGTCTCCTTCACCCGCACACCCTTGGGCTGGAGGCCCCGGCCAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCCTCCCACCTGCTCCACACCAGCCCAGAGCCCCCCACCCTCCCCCTTCCAAGAAGAAGACAGATCCAAGTACCGTTGACCCTGTGGGCAGAGCAGAGAGCAGCAGGTTTCTAGACAGCTGGAGCGAGCTCTTCCGAAGGTGAAAGCGTGAGGAGAGAGATGGAGAGGGGCGAGGAGAGGAGAGGAGGAAGGGCCCCAGCAGGGGAGGAAAAACAGCATGTGCCCAGACAGTAGAAGCTCAAAGAGTAGGGGCCCCGGGGCGGGCTGCAGCGGGACTGGCCCAGGGGGTCCCCCTCCTGTGGGAGGCCCAGACTGCAGTGCCACAGCAGAGGGCAGTCAGGGCCGGGCCTACCTTGGCCAACAGTGACAGTGTAGGGGCTGCGAGGGATGGGCACGCCGGCAAACGTGACGTGCACGGTGTGGACGCCCTCCATGGTGGGCTGGTAGCTGCAGCGGTATGTGCTGTCGCCCCGGGCCTCCAGCTGAGGCTCTACCGTGCCCTTCTGTCCCATGGGGTCCTGGATCACAACCTCGACCTCGCCCGTGCCAGCTCCTGCCACGAGGCACCTGCTCAGCTCCCAGGCCCCAGTGCGGCTCTCCCCACAGACCAGCTGGGCCTTGGCAGCCTCCCCTCACCTGCCGTAAAGATCTCAAAGTAGGTGGTCTTGTTGGCGATGTTGCCACTGGGCTCCAGGCCGGGACCTTGGGCTGTCACTTTGCTGGCGTCACCCTGTGACTTATCCACGTACACCTCGAAGGGGCTCTTGGCGATGTGCTGGCCAGCAAAGAGCACAGTAACCTGTCCCCAGAAGGGTGGGCCGTGAGGGTAGGGCTGGGGGCCTCCAGCCACTGCCTGAGGTCACAAGCCTCCCCCCTGGCCAAGGGCTCACCTTATGAGTCCCCGTCACCTCGGGGACGTACCAGACGGAGAAGGTGCGGTTCTTGTCGTTATTGGCGGTCACTTTTGCCTGCAGTGGGAAGGAGCCTGTGAGCCTTTGCTAAGAGCAGCCCCACTGAAAGGGAGCGCTGCGGGGCCTCTGCTGCCAGCAGCTGGCCCTACCTCCTCCTGGTGTCCGGCCGGGTCCTCCACGTACACCAGCACCTCTCCCTGGCCAGCACTTCTGGTCTCCACAGTGAACTCTGCCCGCTTCTTCACCATGTTGCCTGTGGGCTCGATGCCTGGCAGGGGAAGGCGAGCCAACCACGGGCCAGCTGTTAAGGCCACAGCCTCACCCCTCCACCCTTCAGCCCTCCCTGCTGGCCCCTAAGTCAGGCACATTCCAAACTGGGCAAGTTCATTCAGTGTGAGCTGTGGCACAGAGCCTGGCCTCGGGACCCAGCTGTGCTCTCGCTGCTGGGACAGGCCCAGCCTGTTTTCTGGAACATTCATTCTCACCGCACTGGGCCCTTGTTCCTGTGTGAGCCTTGACTGGGTTTTAGGTCCCTGTTACTGAGACCTGGTTCATCTCCATTTATAATAAAGACCGCTGGATGCTACCTCCCCGAGGACCCCACGCAGCAGGCTTCTGTGACTGGAGGAACCTATTAGCATTCTCTTGTCGTTTTCACTAGTCCCAAAAACCCACTCTTGTCTGACTCTTGGGTGGCTTGATCACCTAGCCGCCATGTAACCCAAGACCCCTGGGGACCGCCACGTTTAGATGGGACACTGTCTTATGGGGAAGACGTTGGCACACGGGTGCACCCCTGGTGGGGCTCCCTCACCTGGCCCGTAGGCACGGGCTTTCTTCGGGTTCAGTTTGGGCCGCAAGGGAGCCCCTGGCTTCAGCTTGGCCTTGGGGAACTGGGACAGGTAGGTCATGACAGAGTGCTCGTCCACGTTGGGGTCCACAATCTCCTCGGGGGTGATCACCTGTCACAGGCAGAAAACAGGAGCCATCGGGCCTCCGAGTCTCTCCCAACTGCCGATCCGGTCCCCTACAGCTGTAGCCAGGCCGGGCGGGTGTACCTGGGGGATGCCCAGCCAGTCATCCGCCTGCTGCATGGCCTCTCGCGCATTGGTAACGGGCTTGCTGGCGTCCCAAGAGTCCCAGTCAGGACACAGGCCTGTGGCGCAAGGGAGGCTGTGAGTCTGGGGGCCGCAGAACCCCCTCAAGGGCCACCCATGGGTGACCCCAGCCCAGTCTCTCCTGCCTCTGCGCCCCCTCACCCGGGGCACAGCTGTCCACCAGGGCGCCCAGGGCCCGGCCGCTCTGCCAGTCCCGGCTGAAGTTGGTGATGGGCAGCTGCGGCAGCTTGTTCTGGATCCAGCCCAGGAGCCTCTGCTTGGGGGTCTGCTTCTTGGCCTCCTCATCCTCCTCCTCGTCCCACATGGGCATGGAGATGGAGTAGTGCAGGATCAGGGTCCAGATGAGGCCCAGGATCAGCTTCAGGTTCCCGTCCACGATGGCCTTGCTGTCTGTGAGTAGAAGAGTGGCCACGCTGGGCACACGGCTGTGCGGGAGGGGCCGATCCCAGGCTTTGGGGTCAGGGTCTGGCAGCACGGGGTAGCAGGGGCCAAGGAGGAGGTAGACACCCCCTCTTGGCCAGTGGTAGGATGTGGATGAGGCCCTCTCTGCCCAGGGTCCCAGGGGGTGTTCAGAGGTGAAGGAGACTTTGGGGTGAGGGCAGATACACACAGACACACACACACGATGCCAGCAGGGTATGATTACTGCCAGAAGCCCTGGGCCCAGAGGAAGGGCAGAGGGCAGACCCAGCCTGCAGATGGGCAGCTCTGGAGAACAGCTGGACAGTGTCCACAGCTGCCAGAGCAG | CCAGGCCCACGTGCCTTCACCTAGCGGGAGACCACCCAGCTGTCAGGGGGCCAGGTCCAGGCTGCCAGAGCTACAACCCAGGCAGGGTGGCCAGGGACACAGAGTGCCATCCCCACCAGACCCCAAGCAGGAGCAGCAGGGCGAGACTTAGGCCATCACAGCCTGCTCTTTACCCTGTCTGGGTGGAAGTCCTGGGGCGCGTCACGGATGTCAGCCATGAAGGGGCTGAGGCGGATGTCTTCGCTGTTGCACAGCACGTGAACGGCATACTCGCCAGCCTCCTGCGGCCAGTAGCGCACATCACAGGAGCCGTCGCCCTTGTCGTCACATTCGATCTTAGCCTGCGATGGCCCTTCCACCGAGAAGCCTGACAACAGCCACCAGTCCCCTCAGTGCCCTGGAGCCTCAGGGTGGGCCGTCCTTGCCATCGTCTGTCCCCAGGTGCCCATGCTGCAGCCTCCAACTTACCCAGCGTGCCCACGTCGTCCCCGATAGCCTCCACCACAAAGTCTGCTGACTTGCCAACGACGCCGCCCTCCAGCCCAGGGCCCCAGGCCCGTACCTTCTGATTGCCACACTCGGTGCCCACCTTCACTTCGAAGGGACTGCAAATGCGAGAGCCACACAGGGAACACCGAGGATCACCACATGAGCCAGCGTGGGCCCCACTGTGGCGGCCAGGCAGGAAGAGCCCATGTGGCCCCTCATCATCAGGTGGGGAGGCAGAAGGAAGAGAAGAGGCAGAGTGTGCAGAGCTGGGAGAGGGATGCCTGGGGGCCTCACCTGCGCCCGATGTTCTGACCACCCCACGTGATGGTGACGATATAGGTTCCAGGGACCATGGGGTAATACTCGAAGCCATACACGCCATCCCCCAGGTCCTTCTGCTTCACGCGCTCCTCTCCCTCTGCCAAGACAAGGAGGGCCTCAGGCCTGCCCAGCAGTGAACCCGGGGGCTGCCGCCACCCATCCTGGCCTGGCTCCAGGCCAACTTACTGGGGCCCTTCACGGTGACCTTCAGCTCCCCACTGCCAGCGCCCTTTGTGTACACCTTGAAGTCAGCTGTCTCCTTCACCCGCACACCCTTGGGCTGGAGGCCCCGGCCAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCCTCCCACCTGCTCCACACCAGCCCAGAGCCCCCCACCCTCCCCCTTCCAAGAAGAAGACAGATCCAAGTACCGTTGACCCTGTGGGCAGAGCAGAGAGCAGCAGGTTTCTAGACAGCTGGAGCGAGCTCTTCCGAAGGTGAAAGCGTGAGGAGAGAGATGGAGAGGGGCGAGGAGAGGAGAGGAGGAAGGGCCCCAGCAGGGGAGGAAAAACAGCATGTGCCCAGACAGTAGAAGCTCAAAGAGTAGGGGCCCCGGGGCGGGCTGCAGCGGGACTGGCCCAGGGGGTCCCCCTCCTGTGGGAGGCCCAGACTGCAGTGCCACAGCAGAGGGCAGTCAGGGCCGGGCCTACCTTGGCCAACAGTGACAGTGTAGGGGCTGCGAGGGATGGGCACGCCGGCAAACGTGACGTGCACGGTGTGGACGCCCTCCATGGTGGGCTGGTAGCTGCAGCGGTATGTGCTGTCGCCCCGGGCCTCCAGCTGAGGCTCTACCGTGCCCTTCTGTCCCATGGGGTCCTGGATCACAACCTCGACCTCGCCCGTGCCAGCTCCTGCCACGAGGCACCTGCTCAGCTCCCAGGCCCCAGTGCGGCTCTCCCCACAGACCAGCTGGGCCTTGGCAGCCTCCCCTCACCTGCCGTAAAGATCTCAAAGTAGGTGGTCTTGTTGGCGATGTTGCCACTGGGCTCCAGGCCGGGACCTTGGGCTGTCACTTTGCTGGCGTCACCGTGACTTATCCACGTACACCTCGAAGGGGCTCTTGGCGATGTGCTGGCCAGCAAAGAGCACAGTAACCTGTCCCCAGAAGGGTGGGCCGTGAGGGTAGGGCTGGGGGCCTCCAGCCACTGCCTGAGGTCACAAGCCTCCCCCCTGGCCAAGGGCTCACCTTATGAGTCCCCGTCACCTCGGGGACGTACCAGACGGAGAAGGTGCGGTTCTTGTCGTTATTGGCGGTCACTTTTGCCTGCAGTGGGAAGGAGCCTGTGAGCCTTTGCTAAGAGCAGCCCCACTGAAAGGGAGCGCTGCGGGGCCTCTGCTGCCAGCAGCTGGCCCTACCTCCTCCTGGTGTCCGGCCGGGTCCTCCACGTACACCAGCACCTCTCCCTGGCCAGCACTTCTGGTCTCCACAGTGAACTCTGCCCGCTTCTTCACCATGTTGCCTGTGGGCTCGATGCCTGGCAGGGGAAGGCGAGCCAACCACGGGCCAGCTGTTAAGGCCACAGCCTCACCCCTCCACCCTTCAGCCCTCCCTGCTGGCCCCTAAGTCAGGCACATTCCAAACTGGGCAAGTTCATTCAGTGTGAGCTGTGGCACAGAGCCTGGCCTCGGGACCCAGCTGTGCTCTCGCTGCTGGGACAGGCCCAGCCTGTTTTCTGGAACATTCATTCTCACCGCACTGGGCCCTTGTTCCTGTGTGAGCCTTGACTGGGTTTTAGGTCCCTGTTACTGAGACCTGGTTCATCTCCATTTATAATAAAGACCGCTGGATGCTACCTCCCCGAGGACCCCACGCAGCAGGCTTCTGTGACTGGAGGAACCTATTAGCATTCTCTTGTCGTTTTCACTAGTCCCAAAAACCCACTCTTGTCTGACTCTTGGGTGGCTTGATCACCTAGCCGCCATGTAACCCAAGACCCCTGGGGACCGCCACGTTTAGATGGGACACTGTCTTATGGGGAAGACGTTGGCACACGGGTGCACCCCTGGTGGGGCTCCCTCACCTGGCCCGTAGGCACGGGCTTTCTTCGGGTTCAGTTTGGGCCGCAAGGGAGCCCCTGGCTTCAGCTTGGCCTTGGGGAACTGGGACAGGTAGGTCATGACAGAGTGCTCGTCCACGTTGGGGTCCACAATCTCCTCGGGGGTGATCACCTGTCACAGGCAGAAAACAGGAGCCATCGGGCCTCCGAGTCTCTCCCAACTGCCGATCCGGTCCCCTACAGCTGTAGCCAGGCCGGGCGGGTGTACCTGGGGGATGCCCAGCCAGTCATCCGCCTGCTGCATGGCCTCTCGCGCATTGGTAACGGGCTTGCTGGCGTCCCAAGAGTCCCAGTCAGGACACAGGCCTGTGGCGCAAGGGAGGCTGTGAGTCTGGGGGCCGCAGAACCCCCTCAAGGGCCACCCATGGGTGACCCCAGCCCAGTCTCTCCTGCCTCTGCGCCCCCTCACCCGGGGCACAGCTGTCCACCAGGGCGCCCAGGGCCCGGCCGCTCTGCCAGTCCCGGCTGAAGTTGGTGATGGGCAGCTGCGGCAGCTTGTTCTGGATCCAGCCCAGGAGCCTCTGCTTGGGGGTCTGCTTCTTGGCCTCCTCATCCTCCTCCTCGTCCCACATGGGCATGGAGATGGAGTAGTGCAGGATCAGGGTCCAGATGAGGCCCAGGATCAGCTTCAGGTTCCCGTCCACGATGGCCTTGCTGTCTGTGAGTAGAAGAGTGGCCACGCTGGGCACACGGCTGTGCGGGAGGGGCCGATCCCAGGCTTTGGGGTCAGGGTCTGGCAGCACGGGGTAGCAGGGGCCAAGGAGGAGGTAGACACCCCCTCTTGGCCAGTGGTAGGATGTGGATGAGGCCCTCTCTGCCCAGGGTCCCAGGGGGTGTTCAGAGGTGAAGGAGACTTTGGGGTGAGGGCAGATACACACAGACACACACACACGATGCCAGCAGGGTATGATTACTGCCAGAAGCCCTGGGCCCAGAGGAAGGGCAGAGGGCAGACCCAGCCTGCAGATGGGCAGCTCTGGAGAACAGCTGGACAGTGTCCACAGCTGCCAGAGCAGNN | pathogenic | 342,052 |
Mutation found at chromosome X position 154366598, gene FLNA (filamin A): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Periventricular_nodular_heterotopia'] | CGCGTCACGGATGTCAGCCATGAAGGGGCTGAGGCGGATGTCTTCGCTGTTGCACAGCACGTGAACGGCATACTCGCCAGCCTCCTGCGGCCAGTAGCGCACATCACAGGAGCCGTCGCCCTTGTCGTCACATTCGATCTTAGCCTGCGATGGCCCTTCCACCGAGAAGCCTGACAACAGCCACCAGTCCCCTCAGTGCCCTGGAGCCTCAGGGTGGGCCGTCCTTGCCATCGTCTGTCCCCAGGTGCCCATGCTGCAGCCTCCAACTTACCCAGCGTGCCCACGTCGTCCCCGATAGCCTCCACCACAAAGTCTGCTGACTTGCCAACGACGCCGCCCTCCAGCCCAGGGCCCCAGGCCCGTACCTTCTGATTGCCACACTCGGTGCCCACCTTCACTTCGAAGGGACTGCAAATGCGAGAGCCACACAGGGAACACCGAGGATCACCACATGAGCCAGCGTGGGCCCCACTGTGGCGGCCAGGCAGGAAGAGCCCATGTGGCCCCTCATCATCAGGTGGGGAGGCAGAAGGAAGAGAAGAGGCAGAGTGTGCAGAGCTGGGAGAGGGATGCCTGGGGGCCTCACCTGCGCCCGATGTTCTGACCACCCCACGTGATGGTGACGATATAGGTTCCAGGGACCATGGGGTAATACTCGAAGCCATACACGCCATCCCCCAGGTCCTTCTGCTTCACGCGCTCCTCTCCCTCTGCCAAGACAAGGAGGGCCTCAGGCCTGCCCAGCAGTGAACCCGGGGGCTGCCGCCACCCATCCTGGCCTGGCTCCAGGCCAACTTACTGGGGCCCTTCACGGTGACCTTCAGCTCCCCACTGCCAGCGCCCTTTGTGTACACCTTGAAGTCAGCTGTCTCCTTCACCCGCACACCCTTGGGCTGGAGGCCCCGGCCAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCCTCCCACCTGCTCCACACCAGCCCAGAGCCCCCCACCCTCCCCCTTCCAAGAAGAAGACAGATCCAAGTACCGTTGACCCTGTGGGCAGAGCAGAGAGCAGCAGGTTTCTAGACAGCTGGAGCGAGCTCTTCCGAAGGTGAAAGCGTGAGGAGAGAGATGGAGAGGGGCGAGGAGAGGAGAGGAGGAAGGGCCCCAGCAGGGGAGGAAAAACAGCATGTGCCCAGACAGTAGAAGCTCAAAGAGTAGGGGCCCCGGGGCGGGCTGCAGCGGGACTGGCCCAGGGGGTCCCCCTCCTGTGGGAGGCCCAGACTGCAGTGCCACAGCAGAGGGCAGTCAGGGCCGGGCCTACCTTGGCCAACAGTGACAGTGTAGGGGCTGCGAGGGATGGGCACGCCGGCAAACGTGACGTGCACGGTGTGGACGCCCTCCATGGTGGGCTGGTAGCTGCAGCGGTATGTGCTGTCGCCCCGGGCCTCCAGCTGAGGCTCTACCGTGCCCTTCTGTCCCATGGGGTCCTGGATCACAACCTCGACCTCGCCCGTGCCAGCTCCTGCCACGAGGCACCTGCTCAGCTCCCAGGCCCCAGTGCGGCTCTCCCCACAGACCAGCTGGGCCTTGGCAGCCTCCCCTCACCTGCCGTAAAGATCTCAAAGTAGGTGGTCTTGTTGGCGATGTTGCCACTGGGCTCCAGGCCGGGACCTTGGGCTGTCACTTTGCTGGCGTCACCCTGTGACTTATCCACGTACACCTCGAAGGGGCTCTTGGCGATGTGCTGGCCAGCAAAGAGCACAGTAACCTGTCCCCAGAAGGGTGGGCCGTGAGGGTAGGGCTGGGGGCCTCCAGCCACTGCCTGAGGTCACAAGCCTCCCCCCTGGCCAAGGGCTCACCTTATGAGTCCCCGTCACCTCGGGGACGTACCAGACGGAGAAGGTGCGGTTCTTGTCGTTATTGGCGGTCACTTTTGCCTGCAGTGGGAAGGAGCCTGTGAGCCTTTGCTAAGAGCAGCCCCACTGAAAGGGAGCGCTGCGGGGCCTCTGCTGCCAGCAGCTGGCCCTACCTCCTCCTGGTGTCCGGCCGGGTCCTCCACGTACACCAGCACCTCTCCCTGGCCAGCACTTCTGGTCTCCACAGTGAACTCTGCCCGCTTCTTCACCATGTTGCCTGTGGGCTCGATGCCTGGCAGGGGAAGGCGAGCCAACCACGGGCCAGCTGTTAAGGCCACAGCCTCACCCCTCCACCCTTCAGCCCTCCCTGCTGGCCCCTAAGTCAGGCACATTCCAAACTGGGCAAGTTCATTCAGTGTGAGCTGTGGCACAGAGCCTGGCCTCGGGACCCAGCTGTGCTCTCGCTGCTGGGACAGGCCCAGCCTGTTTTCTGGAACATTCATTCTCACCGCACTGGGCCCTTGTTCCTGTGTGAGCCTTGACTGGGTTTTAGGTCCCTGTTACTGAGACCTGGTTCATCTCCATTTATAATAAAGACCGCTGGATGCTACCTCCCCGAGGACCCCACGCAGCAGGCTTCTGTGACTGGAGGAACCTATTAGCATTCTCTTGTCGTTTTCACTAGTCCCAAAAACCCACTCTTGTCTGACTCTTGGGTGGCTTGATCACCTAGCCGCCATGTAACCCAAGACCCCTGGGGACCGCCACGTTTAGATGGGACACTGTCTTATGGGGAAGACGTTGGCACACGGGTGCACCCCTGGTGGGGCTCCCTCACCTGGCCCGTAGGCACGGGCTTTCTTCGGGTTCAGTTTGGGCCGCAAGGGAGCCCCTGGCTTCAGCTTGGCCTTGGGGAACTGGGACAGGTAGGTCATGACAGAGTGCTCGTCCACGTTGGGGTCCACAATCTCCTCGGGGGTGATCACCTGTCACAGGCAGAAAACAGGAGCCATCGGGCCTCCGAGTCTCTCCCAACTGCCGATCCGGTCCCCTACAGCTGTAGCCAGGCCGGGCGGGTGTACCTGGGGGATGCCCAGCCAGTCATCCGCCTGCTGCATGGCCTCTCGCGCATTGGTAACGGGCTTGCTGGCGTCCCAAGAGTCCCAGTCAGGACACAGGCCTGTGGCGCAAGGGAGGCTGTGAGTCTGGGGGCCGCAGAACCCCCTCAAGGGCCACCCATGGGTGACCCCAGCCCAGTCTCTCCTGCCTCTGCGCCCCCTCACCCGGGGCACAGCTGTCCACCAGGGCGCCCAGGGCCCGGCCGCTCTGCCAGTCCCGGCTGAAGTTGGTGATGGGCAGCTGCGGCAGCTTGTTCTGGATCCAGCCCAGGAGCCTCTGCTTGGGGGTCTGCTTCTTGGCCTCCTCATCCTCCTCCTCGTCCCACATGGGCATGGAGATGGAGTAGTGCAGGATCAGGGTCCAGATGAGGCCCAGGATCAGCTTCAGGTTCCCGTCCACGATGGCCTTGCTGTCTGTGAGTAGAAGAGTGGCCACGCTGGGCACACGGCTGTGCGGGAGGGGCCGATCCCAGGCTTTGGGGTCAGGGTCTGGCAGCACGGGGTAGCAGGGGCCAAGGAGGAGGTAGACACCCCCTCTTGGCCAGTGGTAGGATGTGGATGAGGCCCTCTCTGCCCAGGGTCCCAGGGGGTGTTCAGAGGTGAAGGAGACTTTGGGGTGAGGGCAGATACACACAGACACACACACACGATGCCAGCAGGGTATGATTACTGCCAGAAGCCCTGGGCCCAGAGGAAGGGCAGAGGGCAGACCCAGCCTGCAGATGGGCAGCTCTGGAGAACAGCTGGACAGTGTCCACAGCTGCCAGAGCAGGGGTCCGCCACACACCTCAGGGGCCTATGGGGAACCAGGAGGAGGAGGCTGACTCCAGCTGGCCCAGAATCCAGGGCCCATGACCTGGAGTGGGGCTGGGGCTGAGGAAGAGGAAGGTGGGTGGCCCTGGGTGGTTGGGAAATACAACTGTTGTTCCAGGGTGGGTGGGGTGAGGCAGGGGAAGTGGGGGAGTTGGG | CGCGTCACGGATGTCAGCCATGAAGGGGCTGAGGCGGATGTCTTCGCTGTTGCACAGCACGTGAACGGCATACTCGCCAGCCTCCTGCGGCCAGTAGCGCACATCACAGGAGCCGTCGCCCTTGTCGTCACATTCGATCTTAGCCTGCGATGGCCCTTCCACCGAGAAGCCTGACAACAGCCACCAGTCCCCTCAGTGCCCTGGAGCCTCAGGGTGGGCCGTCCTTGCCATCGTCTGTCCCCAGGTGCCCATGCTGCAGCCTCCAACTTACCCAGCGTGCCCACGTCGTCCCCGATAGCCTCCACCACAAAGTCTGCTGACTTGCCAACGACGCCGCCCTCCAGCCCAGGGCCCCAGGCCCGTACCTTCTGATTGCCACACTCGGTGCCCACCTTCACTTCGAAGGGACTGCAAATGCGAGAGCCACACAGGGAACACCGAGGATCACCACATGAGCCAGCGTGGGCCCCACTGTGGCGGCCAGGCAGGAAGAGCCCATGTGGCCCCTCATCATCAGGTGGGGAGGCAGAAGGAAGAGAAGAGGCAGAGTGTGCAGAGCTGGGAGAGGGATGCCTGGGGGCCTCACCTGCGCCCGATGTTCTGACCACCCCACGTGATGGTGACGATATAGGTTCCAGGGACCATGGGGTAATACTCGAAGCCATACACGCCATCCCCCAGGTCCTTCTGCTTCACGCGCTCCTCTCCCTCTGCCAAGACAAGGAGGGCCTCAGGCCTGCCCAGCAGTGAACCCGGGGGCTGCCGCCACCCATCCTGGCCTGGCTCCAGGCCAACTTACTGGGGCCCTTCACGGTGACCTTCAGCTCCCCACTGCCAGCGCCCTTTGTGTACACCTTGAAGTCAGCTGTCTCCTTCACCCGCACACCCTTGGGCTGGAGGCCCCGGCCAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCCTCCCACCTGCTCCACACCAGCCCAGAGCCCCCCACCCTCCCCCTTCCAAGAAGAAGACAGATCCAAGTACCGTTGACCCTGTGGGCAGAGCAGAGAGCAGCAGGTTTCTAGACAGCTGGAGCGAGCTCTTCCGAAGGTGAAAGCGTGAGGAGAGAGATGGAGAGGGGCGAGGAGAGGAGAGGAGGAAGGGCCCCAGCAGGGGAGGAAAAACAGCATGTGCCCAGACAGTAGAAGCTCAAAGAGTAGGGGCCCCGGGGCGGGCTGCAGCGGGACTGGCCCAGGGGGTCCCCCTCCTGTGGGAGGCCCAGACTGCAGTGCCACAGCAGAGGGCAGTCAGGGCCGGGCCTACCTTGGCCAACAGTGACAGTGTAGGGGCTGCGAGGGATGGGCACGCCGGCAAACGTGACGTGCACGGTGTGGACGCCCTCCATGGTGGGCTGGTAGCTGCAGCGGTATGTGCTGTCGCCCCGGGCCTCCAGCTGAGGCTCTACCGTGCCCTTCTGTCCCATGGGGTCCTGGATCACAACCTCGACCTCGCCCGTGCCAGCTCCTGCCACGAGGCACCTGCTCAGCTCCCAGGCCCCAGTGCGGCTCTCCCCACAGACCAGCTGGGCCTTGGCAGCCTCCCCTCACCTGCCGTAAAGATCTCAAAGTAGGTGGTCTTGTTGGCGATGTTGCCACTGGGCTCCAGGCCGGGACCTTGGGCTGTCACTTTGCTGGCGTCACCCTGTGACTTATCCACGTACACCTCGAAGGGGCTCTTGGCGATGTGCTGGCCAGCAAAGAGCACAGTAACCTGTCCCCAGAAGGGTGGGCCGTGAGGGTAGGGCTGGGGGCCTCCAGCCACTGCCTGAGGTCACAAGCCTCCCCCCTGGCCAAGGGCTCACCTTATGAGTCCCCGTCACCTCGGGGACGTACCAGACGGAAGGTGCGGTTCTTGTCGTTATTGGCGGTCACTTTTGCCTGCAGTGGGAAGGAGCCTGTGAGCCTTTGCTAAGAGCAGCCCCACTGAAAGGGAGCGCTGCGGGGCCTCTGCTGCCAGCAGCTGGCCCTACCTCCTCCTGGTGTCCGGCCGGGTCCTCCACGTACACCAGCACCTCTCCCTGGCCAGCACTTCTGGTCTCCACAGTGAACTCTGCCCGCTTCTTCACCATGTTGCCTGTGGGCTCGATGCCTGGCAGGGGAAGGCGAGCCAACCACGGGCCAGCTGTTAAGGCCACAGCCTCACCCCTCCACCCTTCAGCCCTCCCTGCTGGCCCCTAAGTCAGGCACATTCCAAACTGGGCAAGTTCATTCAGTGTGAGCTGTGGCACAGAGCCTGGCCTCGGGACCCAGCTGTGCTCTCGCTGCTGGGACAGGCCCAGCCTGTTTTCTGGAACATTCATTCTCACCGCACTGGGCCCTTGTTCCTGTGTGAGCCTTGACTGGGTTTTAGGTCCCTGTTACTGAGACCTGGTTCATCTCCATTTATAATAAAGACCGCTGGATGCTACCTCCCCGAGGACCCCACGCAGCAGGCTTCTGTGACTGGAGGAACCTATTAGCATTCTCTTGTCGTTTTCACTAGTCCCAAAAACCCACTCTTGTCTGACTCTTGGGTGGCTTGATCACCTAGCCGCCATGTAACCCAAGACCCCTGGGGACCGCCACGTTTAGATGGGACACTGTCTTATGGGGAAGACGTTGGCACACGGGTGCACCCCTGGTGGGGCTCCCTCACCTGGCCCGTAGGCACGGGCTTTCTTCGGGTTCAGTTTGGGCCGCAAGGGAGCCCCTGGCTTCAGCTTGGCCTTGGGGAACTGGGACAGGTAGGTCATGACAGAGTGCTCGTCCACGTTGGGGTCCACAATCTCCTCGGGGGTGATCACCTGTCACAGGCAGAAAACAGGAGCCATCGGGCCTCCGAGTCTCTCCCAACTGCCGATCCGGTCCCCTACAGCTGTAGCCAGGCCGGGCGGGTGTACCTGGGGGATGCCCAGCCAGTCATCCGCCTGCTGCATGGCCTCTCGCGCATTGGTAACGGGCTTGCTGGCGTCCCAAGAGTCCCAGTCAGGACACAGGCCTGTGGCGCAAGGGAGGCTGTGAGTCTGGGGGCCGCAGAACCCCCTCAAGGGCCACCCATGGGTGACCCCAGCCCAGTCTCTCCTGCCTCTGCGCCCCCTCACCCGGGGCACAGCTGTCCACCAGGGCGCCCAGGGCCCGGCCGCTCTGCCAGTCCCGGCTGAAGTTGGTGATGGGCAGCTGCGGCAGCTTGTTCTGGATCCAGCCCAGGAGCCTCTGCTTGGGGGTCTGCTTCTTGGCCTCCTCATCCTCCTCCTCGTCCCACATGGGCATGGAGATGGAGTAGTGCAGGATCAGGGTCCAGATGAGGCCCAGGATCAGCTTCAGGTTCCCGTCCACGATGGCCTTGCTGTCTGTGAGTAGAAGAGTGGCCACGCTGGGCACACGGCTGTGCGGGAGGGGCCGATCCCAGGCTTTGGGGTCAGGGTCTGGCAGCACGGGGTAGCAGGGGCCAAGGAGGAGGTAGACACCCCCTCTTGGCCAGTGGTAGGATGTGGATGAGGCCCTCTCTGCCCAGGGTCCCAGGGGGTGTTCAGAGGTGAAGGAGACTTTGGGGTGAGGGCAGATACACACAGACACACACACACGATGCCAGCAGGGTATGATTACTGCCAGAAGCCCTGGGCCCAGAGGAAGGGCAGAGGGCAGACCCAGCCTGCAGATGGGCAGCTCTGGAGAACAGCTGGACAGTGTCCACAGCTGCCAGAGCAGGGGTCCGCCACACACCTCAGGGGCCTATGGGGAACCAGGAGGAGGAGGCTGACTCCAGCTGGCCCAGAATCCAGGGCCCATGACCTGGAGTGGGGCTGGGGCTGAGGAAGAGGAAGGTGGGTGGCCCTGGGTGGTTGGGAAATACAACTGTTGTTCCAGGGTGGGTGGGGTGAGGCAGGGGAAGTGGGGGAGTTGGGNN | pathogenic | 342,067 |
Variant on chromosome X, at position 154371181, affecting FLNA (filamin A): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CATGGCAGCTGCTTCCCAGCCCAGCAGGCAGCACCTGGAGGGCCAGGTGAGCCGCTCAGAGTGGCCTCCCCAGTTCCCAGGTTGGTCCTGGCCCCACGAGGCTGCCTTTCACTCTCCCCAAATGGCAGCAGGGAGGGGGACTCGGAGAGGACCAAGGGTGCAGGGCCAGGGAACAAGGCCAGCCAGGGCTTCCCATCAGGCCCCCACCCCAGTCCAGCCTCAGACCCCTCAACGACCCCCACACGGGGAGCAACCAGGCCCACCAGGTCCATGTTAGGCCAGCCTACTCCGTCCCCATCCCCCTCCCAAAAGAGAGAGGGAAGGACCAGGGCCCAGGGCTGGGAGACTGTCTGGCTGGATGGCCCCGCCCCATCCCACCCCCCTTTCCCCAGCCCCTGGGCCAGCCAACCCCTCCCTCCCCTAATCACTGCTGCTTTCCAACATTTTTTTGCCTTATATGGCAAAGCTCTGGGAACTAGGCCTGCTCCAGCCAGCTCACAAGGAGGAGGGGAGCTGGGAGGAGGGAGGAGACCCCCCCTAAAGAGCTGGGGTGTGGCCCGCCTCCCCACATCCGGTCGCCCCCCCTACCATCCAGGACTGAGATGACTCAGCTTGGCTAGACTGAGGCTGGGACTTGTGGGGGTGGGCCTGCCCCTCGCCTCAACTGGCATTCCAAAGAAAGAACTTTGGTTCTTGGGATCTGCCCTCTGAGTGGCTGGGGGAACCCAAGTCTTGGTCCCTCACTTTCTTGGGTTCAGCAAGGGCCATTCCAGGGCTGCAGGGTAACTGGAAGGCCTCTCAATTCTGAAGAAGAGAAGACTCATCATCCCTCTCCTCTCCCTGTTCCACATCACCCCCGAGTCACCCATTCTGGGGCCTGCCCTCTCATGCAGCCCCTATCTTGAGAACGAATTGGGCTGCTGCAGCAGGCCTGGTCAATGCCAGCCTCTCCAGTCCAGTGACACAGACACTGGGCTGGCACAATGCACGCTGGAGCATCTACCAACCAACTCCTGCGTGCTACACGCAGAAAAGCAAGGCCTACATGGAAGCAAGAGTTTGGCCCAAGATGAAGAGAAAAGTTGGCGTCCAAGTAGTCTACAAGCCAGGTCTCTCAGTCAACCACGCCCAACTCACCCCGGGTGCAGTTTTGCTAACTATGCTTCTTTCTGGCCCCCAGGTTGCCTGTGTGTGTGTGGGGGGGTAGATCTAAACTGGTGGTTGGAGCCATCTCCGATGGGCGACCCATCCTCCAGGGACACAAAGAGCCCAGAGCCCCAGACAATGGGACGCACGAGCTCCAACCCACACTTCAGAACCAACGGGCCTCTGAAGGCCAGAGGGCCCTCTCTAAACAGCTGTGGGGGGAGAGCCCGGGCCTCCTCCTCCTCGGGGACGGGGCGCAGGGCCAGGAGCCTGCCCAGTGCCCGACCCCCCAGGCCCACTCCCACCGCGAGCACAGCCGCGGAGGCGCGGCCTGCGGAGGATGTGAGTTCAGCCTGGGCGCCGGCCAGCCGGGGCGCAGCGGGCGGGGGCGCGTAGCGGTTCGCACGCCCGGCCGGCCAGCCAGCCAGCCCGCGCGCCTTTGTTCTGCAGGCCCGCGTGGAGCAGAGCAGCCGGAGGCCTCGGGAGTTGCGCTGCGGCCCGGAAGGGGGTGGTTTGGAGGGGTCCGCCCGGGGAGATGGAAGGACGCACGGAGTCCCCGCCCCCGCCCGCCCGGCGCTTCGGGGCGTCCCTCACCGATGGACACCAGTTTGATGCTCTCGCGGTCCAGGAACTCGAGCGCCACCGACACGTTCTCAAGCTGCATTTGGCGGAAAGTGGGCCGCTGGTTGTGCTTGCGGTGCATCTTCTTCTGGCTGAGCACCTCCAACAGCGCGATAAGCCGCAGCCCGTCGCTCAGGTCCGTCTGCAGGTTGGCGATGCGCTTGCTCACGCACTTCAGGTGCTCGTTGCACCAGCGCGTGAAAGTGTTCTGCTGGATCTTCTTCCACGGCGCGTCCTCCGCCAGGTCCTTCTCGGTGGCCGGCATCTCGGCGTCCCGCGTGTCGACGCCGCCGCCCGGAGCCGCGCCTGCTGCGCTCTGGCCCGCCCGAGAGTGGGAGCTACTCATTTTGAGGCGCGAGAAGCCGGGGGGGCGGTGCTGCAGCCTCGGCGAGGGGACGGCCCTTTAATTAAAGTCGCAGGCACCTAGGCGCGCGGGAGGCGAGGCAGGGAGCAGAGGTTGCGCTGCGGAGAGAGCGAGCCCTTTAAATGCGGGAGGAGGGCGGGGCCAGAGGGCGGGCCTCCTGCGGGGAGGGGCCGTGGGGTGGGGCTTCGAGGGCGCGCCTGCCCCACCCCGCCCCGCCCGTTGGAATGCCCCCACTAGGCCCCCGGGTTCGGCTGATCAGACGCGAAACCCGGGCTCCAGGGTGGGTCGCTGGGCAGTGGGGTGGGCAAGGATGCTCCCAGCCCCGCAGCCTCGCGTTGGCGCTGCAGGAAACGCGCCCTAGAGCGAGGAAAGGCTGAGCAGTGTCTGGCGCGGGACTGCTTGGCCTGCAGCCGGCGCGCCTTACAAGGGACTTTCCTTCCCCAGGGCCCCTGCGGGGGGTGGGGTGGCTCTCTTCCCTAAGTCACTTGGGCTCTGCCCCGTCCCTGCACATCCCTACCCCCCGCCGTCATCCCCCTTCCCCGGGCCCCCAGGGCCTAGGGTTCCCCGGCGGCATCCCCGTCCGCCGGCCCGGCAGCGGCGGGAAGGGGCCAACCCTAAGAGCGAACCCCTGGAGAGCGGCAGCCCCGGACCAGGCACTGCCGAGGGCGCTTTGTGTGCTCATCACCTGGGAAGCGGCTGCAGGGCAAGGCCTGCGCCTACGCGGTCCCCGCAGACCCCCTGCCACGGGCCCGCCTTCCCAGTCCGTAGGGCCCTCGCCCGCGCACCTGTGCCCGCTGCTTCCCACCGCCTCCCTCTCTGCTTCCCTCCACCCGGGAGGATATGGGGCACTGGGCCAGGAGGCCGCCGGCACTCCAGGAGCAAGCAGCCTTCGAAGGGGTCCGGGCATGCCCACGGGCACGCCAGTGGGCGCGGGCAGAGGGCGCCGTGCGATGCATGCAGAGACGTGTGCCCGCCTAACCCTTCATGCCAGTTCACCCGGGGCACTGGGGGGAGCTGAAGCGGGGGGTCCTCTCCTGTCGGAAAGTCCCCTCAGCCCAGCGTGGCCAGGGCAGGGGGCAAACACGGGAGTGGCATTCCAGACCCAGAGGGGCCTGCTCAGAGGTTCCCATAAGACTTGTCAGGCTCTGAGCACCTGGGTCTGGGTGGGCTTCAGGTGTGGTGGCAGGTGCAGAGGAGGCCTGAGGACAGGGATCAGGGGCCTGGGGGGTTGTGTCCCCAGAGCTGTGGGGGCTCTTCACTCAAAATTTTCTGGTAGATAACTCTGGAGATGGTGCAGTGGCTGCTGTGCCGAGATGTAGACTGGGACCAGGGGACGGCTGGGGACGCTCACTGCTACTATCTTCAGTCAGAAGCCAGCCTGCCTATGGCTTCCTCCCCATTGTGCACTCCCCTCCCTCTCAGTCCTCGGTACCTCCCCTCTCCAGAATGTTTCCTCCTCTGAGTGTTTTTTTTTTTTTTCTAGGAAGGCAGGTATCTGTCCCTCCTGTTCAATTCTAGTAATAATTAATTTATCTGCTAAAGACCAGTGAGAGATGGAGGCCCTGGGTTGGCCAGCACGTCATGCCCAAATATGGTTGACTCTCCTGTAGCCCTGGGTGTCTACATGACACGTGGTGGGGCTGTGATCCGCCCAGCACATTCACTTCGGGGCAGCCTGTGGCCCCACTGGTTTTTCCCACTAGTAGTGGTGTTAGGGGGTGCAAATGGCATTTTCCAGTACTGAGGCCAACCCCTGTATATTGTCCCCTCTCCTGACCACTTTGAGACACACCTGCACCAAGTGCGCCTGGGCGTCTGGGAGCTGGGGTGGAGGTGGGAGGGAGGGCTGGGAAGGGGGAACCCATACAGACCCCTCCCTGCACGGGCCCCATTCAAGACGGGCTTGAAGTTGTCCTTCTGGTCCCCCTGCCCCACTGGAAAGCAAGTTCCCAGGCACGGAATTCC | CATGGCAGCTGCTTCCCAGCCCAGCAGGCAGCACCTGGAGGGCCAGGTGAGCCGCTCAGAGTGGCCTCCCCAGTTCCCAGGTTGGTCCTGGCCCCACGAGGCTGCCTTTCACTCTCCCCAAATGGCAGCAGGGAGGGGGACTCGGAGAGGACCAAGGGTGCAGGGCCAGGGAACAAGGCCAGCCAGGGCTTCCCATCAGGCCCCCACCCCAGTCCAGCCTCAGACCCCTCAACGACCCCCACACGGGGAGCAACCAGGCCCACCAGGTCCATGTTAGGCCAGCCTACTCCGTCCCCATCCCCCTCCCAAAAGAGAGAGGGAAGGACCAGGGCCCAGGGCTGGGAGACTGTCTGGCTGGATGGCCCCGCCCCATCCCACCCCCCTTTCCCCAGCCCCTGGGCCAGCCAACCCCTCCCTCCCCTAATCACTGCTGCTTTCCAACATTTTTTTGCCTTATATGGCAAAGCTCTGGGAACTAGGCCTGCTCCAGCCAGCTCACAAGGAGGAGGGGAGCTGGGAGGAGGGAGGAGACCCCCCCTAAAGAGCTGGGGTGTGGCCCGCCTCCCCACATCCGGTCGCCCCCCCTACCATCCAGGACTGAGATGACTCAGCTTGGCTAGACTGAGGCTGGGACTTGTGGGGGTGGGCCTGCCCCTCGCCTCAACTGGCATTCCAAAGAAAGAACTTTGGTTCTTGGGATCTGCCCTCTGAGTGGCTGGGGGAACCCAAGTCTTGGTCCCTCACTTTCTTGGGTTCAGCAAGGGCCATTCCAGGGCTGCAGGGTAACTGGAAGGCCTCTCAATTCTGAAGAAGAGAAGACTCATCATCCCTCTCCTCTCCCTGTTCCACATCACCCCCGAGTCACCCATTCTGGGGCCTGCCCTCTCATGCAGCCCCTATCTTGAGAACGAATTGGGCTGCTGCAGCAGGCCTGGTCAATGCCAGCCTCTCCAGTCCAGTGACACAGACACTGGGCTGGCACAATGCACGCTGGAGCATCTACCAACCAACTCCTGCGTGCTACACGCAGAAAAGCAAGGCCTACATGGAAGCAAGAGTTTGGCCCAAGATGAAGAGAAAAGTTGGCGTCCAAGTAGTCTACAAGCCAGGTCTCTCAGTCAACCACGCCCAACTCACCCCGGGTGCAGTTTTGCTAACTATGCTTCTTTCTGGCCCCCAGGTTGCCTGTGTGTGTGTGGGGGGGTAGATCTAAACTGGTGGTTGGAGCCATCTCCGATGGGCGACCCATCCTCCAGGGACACAAAGAGCCCAGAGCCCCAGACAATGGGACGCACGAGCTCCAACCCACACTTCAGAACCAACGGGCCTCTGAAGGCCAGAGGGCCCTCTCTAAACAGCTGTGGGGGGAGAGCCCGGGCCTCCTCCTCCTCGGGGACGGGGCGCAGGGCCAGGAGCCTGCCCAGTGCCCGACCCCCCAGGCCCACTCCCACCGCGAGCACAGCCGCGGAGGCGCGGCCTGCGGAGGATGTGAGTTCAGCCTGGGCGCCGGCCAGCCGGGGCGCAGCGGGCGGGGGCGCGTAGCGGTTCGCACGCCCGGCCGGCCAGCCAGCCAGCCCGCGCGCCTTTGTTCTGCAGGCCCGCGTGGAGCAGAGCAGCCGGAGGCCTCGGGAGTTGCGCTGCGGCCCGGAAGGGGGTGGTTTGGAGGGGTCCGCCCGGGGAGATGGAAGGACGCACGGAGTCCCCGCCCCCGCCCGCCCGGCGCTTCGGGGCGTCCCTCACCGATGGACACCAGTTTGATGCTCTCGCGGTCCAGGAACTCGAGCGCCACCGACACGTTCTCAAGCTGCATTTGGCGGAAAGTGGGCCGCTGGTTGTGCTTGCGGTGCATCTTCTTCTGGCTGAGCACCTCCAACAGCGCGATAAGCCGCAGCCCGTCGCTCAGGTCCGTCTGCAGGTTGGCGATGCGCTTGCTCACGCACTTCAGGTGCTCGTTGCACCAGCGCGTGAAAGTGTTCTGCTGGATCTTCTTCCACGGCGCGTCCTCCGCCAGGTCCTTCTCGGTGGCCGGCATCTCGGCGTCCCGCGTGTCGACGACGCCGCCGCCCGGAGCCGCGCCTGCTGCGCTCTGGCCCGCCCGAGAGTGGGAGCTACTCATTTTGAGGCGCGAGAAGCCGGGGGGGCGGTGCTGCAGCCTCGGCGAGGGGACGGCCCTTTAATTAAAGTCGCAGGCACCTAGGCGCGCGGGAGGCGAGGCAGGGAGCAGAGGTTGCGCTGCGGAGAGAGCGAGCCCTTTAAATGCGGGAGGAGGGCGGGGCCAGAGGGCGGGCCTCCTGCGGGGAGGGGCCGTGGGGTGGGGCTTCGAGGGCGCGCCTGCCCCACCCCGCCCCGCCCGTTGGAATGCCCCCACTAGGCCCCCGGGTTCGGCTGATCAGACGCGAAACCCGGGCTCCAGGGTGGGTCGCTGGGCAGTGGGGTGGGCAAGGATGCTCCCAGCCCCGCAGCCTCGCGTTGGCGCTGCAGGAAACGCGCCCTAGAGCGAGGAAAGGCTGAGCAGTGTCTGGCGCGGGACTGCTTGGCCTGCAGCCGGCGCGCCTTACAAGGGACTTTCCTTCCCCAGGGCCCCTGCGGGGGGTGGGGTGGCTCTCTTCCCTAAGTCACTTGGGCTCTGCCCCGTCCCTGCACATCCCTACCCCCCGCCGTCATCCCCCTTCCCCGGGCCCCCAGGGCCTAGGGTTCCCCGGCGGCATCCCCGTCCGCCGGCCCGGCAGCGGCGGGAAGGGGCCAACCCTAAGAGCGAACCCCTGGAGAGCGGCAGCCCCGGACCAGGCACTGCCGAGGGCGCTTTGTGTGCTCATCACCTGGGAAGCGGCTGCAGGGCAAGGCCTGCGCCTACGCGGTCCCCGCAGACCCCCTGCCACGGGCCCGCCTTCCCAGTCCGTAGGGCCCTCGCCCGCGCACCTGTGCCCGCTGCTTCCCACCGCCTCCCTCTCTGCTTCCCTCCACCCGGGAGGATATGGGGCACTGGGCCAGGAGGCCGCCGGCACTCCAGGAGCAAGCAGCCTTCGAAGGGGTCCGGGCATGCCCACGGGCACGCCAGTGGGCGCGGGCAGAGGGCGCCGTGCGATGCATGCAGAGACGTGTGCCCGCCTAACCCTTCATGCCAGTTCACCCGGGGCACTGGGGGGAGCTGAAGCGGGGGGTCCTCTCCTGTCGGAAAGTCCCCTCAGCCCAGCGTGGCCAGGGCAGGGGGCAAACACGGGAGTGGCATTCCAGACCCAGAGGGGCCTGCTCAGAGGTTCCCATAAGACTTGTCAGGCTCTGAGCACCTGGGTCTGGGTGGGCTTCAGGTGTGGTGGCAGGTGCAGAGGAGGCCTGAGGACAGGGATCAGGGGCCTGGGGGGTTGTGTCCCCAGAGCTGTGGGGGCTCTTCACTCAAAATTTTCTGGTAGATAACTCTGGAGATGGTGCAGTGGCTGCTGTGCCGAGATGTAGACTGGGACCAGGGGACGGCTGGGGACGCTCACTGCTACTATCTTCAGTCAGAAGCCAGCCTGCCTATGGCTTCCTCCCCATTGTGCACTCCCCTCCCTCTCAGTCCTCGGTACCTCCCCTCTCCAGAATGTTTCCTCCTCTGAGTGTTTTTTTTTTTTTTCTAGGAAGGCAGGTATCTGTCCCTCCTGTTCAATTCTAGTAATAATTAATTTATCTGCTAAAGACCAGTGAGAGATGGAGGCCCTGGGTTGGCCAGCACGTCATGCCCAAATATGGTTGACTCTCCTGTAGCCCTGGGTGTCTACATGACACGTGGTGGGGCTGTGATCCGCCCAGCACATTCACTTCGGGGCAGCCTGTGGCCCCACTGGTTTTTCCCACTAGTAGTGGTGTTAGGGGGTGCAAATGGCATTTTCCAGTACTGAGGCCAACCCCTGTATATTGTCCCCTCTCCTGACCACTTTGAGACACACCTGCACCAAGTGCGCCTGGGCGTCTGGGAGCTGGGGTGGAGGTGGGAGGGAGGGCTGGGAAGGGGGAACCCATACAGACCCCTCCCTGCACGGGCCCCATTCAAGACGGGCTTGAAGTTGTCCTTCTGGTCCCCCTGCCCCACTGGAAAGCAAGTTCCCAGGCACGGAAT | benign | 342,145 |
Classify the chromosome X variant at position 154371263 affecting gene FLNA (filamin A) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TGGTCCTGGCCCCACGAGGCTGCCTTTCACTCTCCCCAAATGGCAGCAGGGAGGGGGACTCGGAGAGGACCAAGGGTGCAGGGCCAGGGAACAAGGCCAGCCAGGGCTTCCCATCAGGCCCCCACCCCAGTCCAGCCTCAGACCCCTCAACGACCCCCACACGGGGAGCAACCAGGCCCACCAGGTCCATGTTAGGCCAGCCTACTCCGTCCCCATCCCCCTCCCAAAAGAGAGAGGGAAGGACCAGGGCCCAGGGCTGGGAGACTGTCTGGCTGGATGGCCCCGCCCCATCCCACCCCCCTTTCCCCAGCCCCTGGGCCAGCCAACCCCTCCCTCCCCTAATCACTGCTGCTTTCCAACATTTTTTTGCCTTATATGGCAAAGCTCTGGGAACTAGGCCTGCTCCAGCCAGCTCACAAGGAGGAGGGGAGCTGGGAGGAGGGAGGAGACCCCCCCTAAAGAGCTGGGGTGTGGCCCGCCTCCCCACATCCGGTCGCCCCCCCTACCATCCAGGACTGAGATGACTCAGCTTGGCTAGACTGAGGCTGGGACTTGTGGGGGTGGGCCTGCCCCTCGCCTCAACTGGCATTCCAAAGAAAGAACTTTGGTTCTTGGGATCTGCCCTCTGAGTGGCTGGGGGAACCCAAGTCTTGGTCCCTCACTTTCTTGGGTTCAGCAAGGGCCATTCCAGGGCTGCAGGGTAACTGGAAGGCCTCTCAATTCTGAAGAAGAGAAGACTCATCATCCCTCTCCTCTCCCTGTTCCACATCACCCCCGAGTCACCCATTCTGGGGCCTGCCCTCTCATGCAGCCCCTATCTTGAGAACGAATTGGGCTGCTGCAGCAGGCCTGGTCAATGCCAGCCTCTCCAGTCCAGTGACACAGACACTGGGCTGGCACAATGCACGCTGGAGCATCTACCAACCAACTCCTGCGTGCTACACGCAGAAAAGCAAGGCCTACATGGAAGCAAGAGTTTGGCCCAAGATGAAGAGAAAAGTTGGCGTCCAAGTAGTCTACAAGCCAGGTCTCTCAGTCAACCACGCCCAACTCACCCCGGGTGCAGTTTTGCTAACTATGCTTCTTTCTGGCCCCCAGGTTGCCTGTGTGTGTGTGGGGGGGTAGATCTAAACTGGTGGTTGGAGCCATCTCCGATGGGCGACCCATCCTCCAGGGACACAAAGAGCCCAGAGCCCCAGACAATGGGACGCACGAGCTCCAACCCACACTTCAGAACCAACGGGCCTCTGAAGGCCAGAGGGCCCTCTCTAAACAGCTGTGGGGGGAGAGCCCGGGCCTCCTCCTCCTCGGGGACGGGGCGCAGGGCCAGGAGCCTGCCCAGTGCCCGACCCCCCAGGCCCACTCCCACCGCGAGCACAGCCGCGGAGGCGCGGCCTGCGGAGGATGTGAGTTCAGCCTGGGCGCCGGCCAGCCGGGGCGCAGCGGGCGGGGGCGCGTAGCGGTTCGCACGCCCGGCCGGCCAGCCAGCCAGCCCGCGCGCCTTTGTTCTGCAGGCCCGCGTGGAGCAGAGCAGCCGGAGGCCTCGGGAGTTGCGCTGCGGCCCGGAAGGGGGTGGTTTGGAGGGGTCCGCCCGGGGAGATGGAAGGACGCACGGAGTCCCCGCCCCCGCCCGCCCGGCGCTTCGGGGCGTCCCTCACCGATGGACACCAGTTTGATGCTCTCGCGGTCCAGGAACTCGAGCGCCACCGACACGTTCTCAAGCTGCATTTGGCGGAAAGTGGGCCGCTGGTTGTGCTTGCGGTGCATCTTCTTCTGGCTGAGCACCTCCAACAGCGCGATAAGCCGCAGCCCGTCGCTCAGGTCCGTCTGCAGGTTGGCGATGCGCTTGCTCACGCACTTCAGGTGCTCGTTGCACCAGCGCGTGAAAGTGTTCTGCTGGATCTTCTTCCACGGCGCGTCCTCCGCCAGGTCCTTCTCGGTGGCCGGCATCTCGGCGTCCCGCGTGTCGACGCCGCCGCCCGGAGCCGCGCCTGCTGCGCTCTGGCCCGCCCGAGAGTGGGAGCTACTCATTTTGAGGCGCGAGAAGCCGGGGGGGCGGTGCTGCAGCCTCGGCGAGGGGACGGCCCTTTAATTAAAGTCGCAGGCACCTAGGCGCGCGGGAGGCGAGGCAGGGAGCAGAGGTTGCGCTGCGGAGAGAGCGAGCCCTTTAAATGCGGGAGGAGGGCGGGGCCAGAGGGCGGGCCTCCTGCGGGGAGGGGCCGTGGGGTGGGGCTTCGAGGGCGCGCCTGCCCCACCCCGCCCCGCCCGTTGGAATGCCCCCACTAGGCCCCCGGGTTCGGCTGATCAGACGCGAAACCCGGGCTCCAGGGTGGGTCGCTGGGCAGTGGGGTGGGCAAGGATGCTCCCAGCCCCGCAGCCTCGCGTTGGCGCTGCAGGAAACGCGCCCTAGAGCGAGGAAAGGCTGAGCAGTGTCTGGCGCGGGACTGCTTGGCCTGCAGCCGGCGCGCCTTACAAGGGACTTTCCTTCCCCAGGGCCCCTGCGGGGGGTGGGGTGGCTCTCTTCCCTAAGTCACTTGGGCTCTGCCCCGTCCCTGCACATCCCTACCCCCCGCCGTCATCCCCCTTCCCCGGGCCCCCAGGGCCTAGGGTTCCCCGGCGGCATCCCCGTCCGCCGGCCCGGCAGCGGCGGGAAGGGGCCAACCCTAAGAGCGAACCCCTGGAGAGCGGCAGCCCCGGACCAGGCACTGCCGAGGGCGCTTTGTGTGCTCATCACCTGGGAAGCGGCTGCAGGGCAAGGCCTGCGCCTACGCGGTCCCCGCAGACCCCCTGCCACGGGCCCGCCTTCCCAGTCCGTAGGGCCCTCGCCCGCGCACCTGTGCCCGCTGCTTCCCACCGCCTCCCTCTCTGCTTCCCTCCACCCGGGAGGATATGGGGCACTGGGCCAGGAGGCCGCCGGCACTCCAGGAGCAAGCAGCCTTCGAAGGGGTCCGGGCATGCCCACGGGCACGCCAGTGGGCGCGGGCAGAGGGCGCCGTGCGATGCATGCAGAGACGTGTGCCCGCCTAACCCTTCATGCCAGTTCACCCGGGGCACTGGGGGGAGCTGAAGCGGGGGGTCCTCTCCTGTCGGAAAGTCCCCTCAGCCCAGCGTGGCCAGGGCAGGGGGCAAACACGGGAGTGGCATTCCAGACCCAGAGGGGCCTGCTCAGAGGTTCCCATAAGACTTGTCAGGCTCTGAGCACCTGGGTCTGGGTGGGCTTCAGGTGTGGTGGCAGGTGCAGAGGAGGCCTGAGGACAGGGATCAGGGGCCTGGGGGGTTGTGTCCCCAGAGCTGTGGGGGCTCTTCACTCAAAATTTTCTGGTAGATAACTCTGGAGATGGTGCAGTGGCTGCTGTGCCGAGATGTAGACTGGGACCAGGGGACGGCTGGGGACGCTCACTGCTACTATCTTCAGTCAGAAGCCAGCCTGCCTATGGCTTCCTCCCCATTGTGCACTCCCCTCCCTCTCAGTCCTCGGTACCTCCCCTCTCCAGAATGTTTCCTCCTCTGAGTGTTTTTTTTTTTTTTCTAGGAAGGCAGGTATCTGTCCCTCCTGTTCAATTCTAGTAATAATTAATTTATCTGCTAAAGACCAGTGAGAGATGGAGGCCCTGGGTTGGCCAGCACGTCATGCCCAAATATGGTTGACTCTCCTGTAGCCCTGGGTGTCTACATGACACGTGGTGGGGCTGTGATCCGCCCAGCACATTCACTTCGGGGCAGCCTGTGGCCCCACTGGTTTTTCCCACTAGTAGTGGTGTTAGGGGGTGCAAATGGCATTTTCCAGTACTGAGGCCAACCCCTGTATATTGTCCCCTCTCCTGACCACTTTGAGACACACCTGCACCAAGTGCGCCTGGGCGTCTGGGAGCTGGGGTGGAGGTGGGAGGGAGGGCTGGGAAGGGGGAACCCATACAGACCCCTCCCTGCACGGGCCCCATTCAAGACGGGCTTGAAGTTGTCCTTCTGGTCCCCCTGCCCCACTGGAAAGCAAGTTCCCAGGCACGGAATTCCATCAATAATTGACTCTCTCTCCACTAAGGGCCATTGAGCTGGGTTGTCTGGGTTCATTCCTTAATCTTCAGAGCTCAGGGAA | TGGTCCTGGCCCCACGAGGCTGCCTTTCACTCTCCCCAAATGGCAGCAGGGAGGGGGACTCGGAGAGGACCAAGGGTGCAGGGCCAGGGAACAAGGCCAGCCAGGGCTTCCCATCAGGCCCCCACCCCAGTCCAGCCTCAGACCCCTCAACGACCCCCACACGGGGAGCAACCAGGCCCACCAGGTCCATGTTAGGCCAGCCTACTCCGTCCCCATCCCCCTCCCAAAAGAGAGAGGGAAGGACCAGGGCCCAGGGCTGGGAGACTGTCTGGCTGGATGGCCCCGCCCCATCCCACCCCCCTTTCCCCAGCCCCTGGGCCAGCCAACCCCTCCCTCCCCTAATCACTGCTGCTTTCCAACATTTTTTTGCCTTATATGGCAAAGCTCTGGGAACTAGGCCTGCTCCAGCCAGCTCACAAGGAGGAGGGGAGCTGGGAGGAGGGAGGAGACCCCCCCTAAAGAGCTGGGGTGTGGCCCGCCTCCCCACATCCGGTCGCCCCCCCTACCATCCAGGACTGAGATGACTCAGCTTGGCTAGACTGAGGCTGGGACTTGTGGGGGTGGGCCTGCCCCTCGCCTCAACTGGCATTCCAAAGAAAGAACTTTGGTTCTTGGGATCTGCCCTCTGAGTGGCTGGGGGAACCCAAGTCTTGGTCCCTCACTTTCTTGGGTTCAGCAAGGGCCATTCCAGGGCTGCAGGGTAACTGGAAGGCCTCTCAATTCTGAAGAAGAGAAGACTCATCATCCCTCTCCTCTCCCTGTTCCACATCACCCCCGAGTCACCCATTCTGGGGCCTGCCCTCTCATGCAGCCCCTATCTTGAGAACGAATTGGGCTGCTGCAGCAGGCCTGGTCAATGCCAGCCTCTCCAGTCCAGTGACACAGACACTGGGCTGGCACAATGCACGCTGGAGCATCTACCAACCAACTCCTGCGTGCTACACGCAGAAAAGCAAGGCCTACATGGAAGCAAGAGTTTGGCCCAAGATGAAGAGAAAAGTTGGCGTCCAAGTAGTCTACAAGCCAGGTCTCTCAGTCAACCACGCCCAACTCACCCCGGGTGCAGTTTTGCTAACTATGCTTCTTTCTGGCCCCCAGGTTGCCTGTGTGTGTGTGGGGGGGTAGATCTAAACTGGTGGTTGGAGCCATCTCCGATGGGCGACCCATCCTCCAGGGACACAAAGAGCCCAGAGCCCCAGACAATGGGACGCACGAGCTCCAACCCACACTTCAGAACCAACGGGCCTCTGAAGGCCAGAGGGCCCTCTCTAAACAGCTGTGGGGGGAGAGCCCGGGCCTCCTCCTCCTCGGGGACGGGGCGCAGGGCCAGGAGCCTGCCCAGTGCCCGACCCCCCAGGCCCACTCCCACCGCGAGCACAGCCGCGGAGGCGCGGCCTGCGGAGGATGTGAGTTCAGCCTGGGCGCCGGCCAGCCGGGGCGCAGCGGGCGGGGGCGCGTAGCGGTTCGCACGCCCGGCCGGCCAGCCAGCCAGCCCGCGCGCCTTTGTTCTGCAGGCCCGCGTGGAGCAGAGCAGCCGGAGGCCTCGGGAGTTGCGCTGCGGCCCGGAAGGGGGTGGTTTGGAGGGGTCCGCCCGGGGAGATGGAAGGACGCACGGAGTCCCCGCCCCCGCCCGCCCGGCGCTTCGGGGCGTCCCTCACCGATGGACACCAGTTTGATGCTCTCGCGGTCCAGGAACTCGAGCGCCACCGACACGTTCTCAAGCTGCATTTGGCGGAAAGTGGGCCGCTGGTTGTGCTTGCGGTGCATCTTCTTCTGGCTGAGCACCTCCAACAGCGCGATAAGCCGCAGCCCGTCGCTCAGGTCCGTCTGCAGGTTGGCGATGCGCTTGCTCACGCACTTCAGGTGCTCGTTGCACCAGCGCGTGAAAGTGTTCTGCTGGATCTTCTTCCACGGCGCGTCCTCCGCCAGGTCCTTCTCGGTGGCCGGCATCTCGGCGTCCCGCGTGTCGACGCCGCCGCCCGGAGCCGCGCCTGCTGCGCTCTGGCCCGCCCGAGAGTGGGAGCTACTCATTTTGAGGCGCGAGAAGCCGGGGGGGGCGGTGCTGCAGCCTCGGCGAGGGGACGGCCCTTTAATTAAAGTCGCAGGCACCTAGGCGCGCGGGAGGCGAGGCAGGGAGCAGAGGTTGCGCTGCGGAGAGAGCGAGCCCTTTAAATGCGGGAGGAGGGCGGGGCCAGAGGGCGGGCCTCCTGCGGGGAGGGGCCGTGGGGTGGGGCTTCGAGGGCGCGCCTGCCCCACCCCGCCCCGCCCGTTGGAATGCCCCCACTAGGCCCCCGGGTTCGGCTGATCAGACGCGAAACCCGGGCTCCAGGGTGGGTCGCTGGGCAGTGGGGTGGGCAAGGATGCTCCCAGCCCCGCAGCCTCGCGTTGGCGCTGCAGGAAACGCGCCCTAGAGCGAGGAAAGGCTGAGCAGTGTCTGGCGCGGGACTGCTTGGCCTGCAGCCGGCGCGCCTTACAAGGGACTTTCCTTCCCCAGGGCCCCTGCGGGGGGTGGGGTGGCTCTCTTCCCTAAGTCACTTGGGCTCTGCCCCGTCCCTGCACATCCCTACCCCCCGCCGTCATCCCCCTTCCCCGGGCCCCCAGGGCCTAGGGTTCCCCGGCGGCATCCCCGTCCGCCGGCCCGGCAGCGGCGGGAAGGGGCCAACCCTAAGAGCGAACCCCTGGAGAGCGGCAGCCCCGGACCAGGCACTGCCGAGGGCGCTTTGTGTGCTCATCACCTGGGAAGCGGCTGCAGGGCAAGGCCTGCGCCTACGCGGTCCCCGCAGACCCCCTGCCACGGGCCCGCCTTCCCAGTCCGTAGGGCCCTCGCCCGCGCACCTGTGCCCGCTGCTTCCCACCGCCTCCCTCTCTGCTTCCCTCCACCCGGGAGGATATGGGGCACTGGGCCAGGAGGCCGCCGGCACTCCAGGAGCAAGCAGCCTTCGAAGGGGTCCGGGCATGCCCACGGGCACGCCAGTGGGCGCGGGCAGAGGGCGCCGTGCGATGCATGCAGAGACGTGTGCCCGCCTAACCCTTCATGCCAGTTCACCCGGGGCACTGGGGGGAGCTGAAGCGGGGGGTCCTCTCCTGTCGGAAAGTCCCCTCAGCCCAGCGTGGCCAGGGCAGGGGGCAAACACGGGAGTGGCATTCCAGACCCAGAGGGGCCTGCTCAGAGGTTCCCATAAGACTTGTCAGGCTCTGAGCACCTGGGTCTGGGTGGGCTTCAGGTGTGGTGGCAGGTGCAGAGGAGGCCTGAGGACAGGGATCAGGGGCCTGGGGGGTTGTGTCCCCAGAGCTGTGGGGGCTCTTCACTCAAAATTTTCTGGTAGATAACTCTGGAGATGGTGCAGTGGCTGCTGTGCCGAGATGTAGACTGGGACCAGGGGACGGCTGGGGACGCTCACTGCTACTATCTTCAGTCAGAAGCCAGCCTGCCTATGGCTTCCTCCCCATTGTGCACTCCCCTCCCTCTCAGTCCTCGGTACCTCCCCTCTCCAGAATGTTTCCTCCTCTGAGTGTTTTTTTTTTTTTTCTAGGAAGGCAGGTATCTGTCCCTCCTGTTCAATTCTAGTAATAATTAATTTATCTGCTAAAGACCAGTGAGAGATGGAGGCCCTGGGTTGGCCAGCACGTCATGCCCAAATATGGTTGACTCTCCTGTAGCCCTGGGTGTCTACATGACACGTGGTGGGGCTGTGATCCGCCCAGCACATTCACTTCGGGGCAGCCTGTGGCCCCACTGGTTTTTCCCACTAGTAGTGGTGTTAGGGGGTGCAAATGGCATTTTCCAGTACTGAGGCCAACCCCTGTATATTGTCCCCTCTCCTGACCACTTTGAGACACACCTGCACCAAGTGCGCCTGGGCGTCTGGGAGCTGGGGTGGAGGTGGGAGGGAGGGCTGGGAAGGGGGAACCCATACAGACCCCTCCCTGCACGGGCCCCATTCAAGACGGGCTTGAAGTTGTCCTTCTGGTCCCCCTGCCCCACTGGAAAGCAAGTTCCCAGGCACGGAATTCCATCAATAATTGACTCTCTCTCCACTAAGGGCCATTGAGCTGGGTTGTCTGGGTTCATTCCTTAATCTTCAGAGCTCAGGGA | benign | 342,154 |
Is the genetic mutation found on chromosome X at position 154379314, within the gene EMD (emerin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GGATCTTTGCGTGTAGTCAAAACAGGGCCCCATCTCCTCATTACTCCCCCAGGTGTCTACCTCTTCCCACCCCATGGGCAAACCTCCATGGATGACTGGTCTGTGACCCTCACCAGCCAGGCCAGCCATTCTGGACATGACCAGAGCCCTCCCCTCTTCTTCCCTTGTCACCAGCCCTCAACTGTGAAACTACAGATGGCATGTCACCTCTTCATGCTCCCAGTTTGGGGCCTACCCAGTGAGGGGCACACTAGTTGATTCCATACACCCTCAGCTGGCTTTGTTTAGAATGTGAATGTCACAGCCAGGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGCCGGACTGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCTGTTTCTACTAAAAATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTG | GGATCTTTGCGTGTAGTCAAAACAGGGCCCCATCTCCTCATTACTCCCCCAGGTGTCTACCTCTTCCCACCCCATGGGCAAACCTCCATGGATGACTGGTCTGTGACCCTCACCAGCCAGGCCAGCCATTCTGGACATGACCAGAGCCCTCCCCTCTTCTTCCCTTGTCACCAGCCCTCAACTGTGAAACTACAGATGGCATGTCACCTCTTCATGCTCCCAGTTTGGGGCCTACCCAGTGAGGGGCACACTAGTTGATTCCATACACCCTCAGCTGGCTTTGTTTAGAATGTGAATGTCACAGCCAGGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGCCGGACTGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCTGTTTCTACTAAAAATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGNNNNNNNNNNNNNNNNNNNNNN | benign | 342,157 |
Regarding the variant found on chromosome X at position 154379543 in gene EMD (emerin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Emery-Dreifuss_muscular_dystrophy_1,_X-linked', 'X-linked_Emery-Dreifuss_muscular_dystrophy'] | GCCTACCCAGTGAGGGGCACACTAGTTGATTCCATACACCCTCAGCTGGCTTTGTTTAGAATGTGAATGTCACAGCCAGGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGCCGGACTGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCTGTTTCTACTAAAAATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCC | GCCTACCCAGTGAGGGGCACACTAGTTGATTCCATACACCCTCAGCTGGCTTTGTTTAGAATGTGAATGTCACAGCCAGGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGCCGGACTGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCTGTTTCTACTAAAAATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAAATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCN | pathogenic | 342,163 |
Mutation at chromosome X, position 154379720, within EMD (emerin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Emery-Dreifuss_muscular_dystrophy_1,_X-linked', 'X-linked_Emery-Dreifuss_muscular_dystrophy'] | AAATCCTGTTTCTACTAAAAATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAA | AAATCCTGTTTCTACTAAAAATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAANNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 342,167 |
Is the genetic variant on chromosome X, position 154379725, gene EMD (emerin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['X-linked_Emery-Dreifuss_muscular_dystrophy'] | CTGTTTCTACTAAAAATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCAC | CTGTTTCTACTAAAAATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 342,169 |
Does the genetic variant at chromosome X, position 154379740, impacting gene EMD (emerin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Emery-Dreifuss_muscular_dystrophy', 'X-linked_Emery-Dreifuss_muscular_dystrophy'] | ATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCA | ATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGC | pathogenic | 342,171 |
Chromosome X, position 154379754, gene EMD (emerin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cardiovascular_phenotype', 'X-linked_Emery-Dreifuss_muscular_dystrophy'] | TACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACG | TACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCAC | pathogenic | 342,172 |
For chromosome X, position 154380001, gene EMD (emerin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['EMD-related_disorder', 'Emery-Dreifuss_muscular_dystrophy_1,_X-linked', 'X-linked_Emery-Dreifuss_muscular_dystrophy'] | CTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACGCTACCAGCAGTCTGCGGGTGTTTTAACTGGAAAAAGCTGAAGTCCACCTCGGTGTCCAATGGCATGGGGATGGAAAGAAAATGAGGCGTCTCTGGCACATCATTCTCAGCTCCTGGAACTGCTGCTTGTTTAACATGGGAGAAAAGCTCCAAAGGCTGAAATGCCCCATCATCCCTGGGTGATTGAATTCACCTGCCTATATTCTCACTTAGCTCCCAGGTTTTCTGCCCTGGGTATGTATTTCATA | CTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACGCTACCAGCAGTCTGCGGGTGTTTTAACTGGAAAAAGCTGAAGTCCACCTCGGTGTCCAATGGCATGGGGATGGAAAGAAAATGAGGCGTCTCTGGCACATCATTCTCAGCTCCTGGAACTGCTGCTTGTTTAACATGGGAGAAAAGCTCCAAAGGCTGAAATGCCCCATCATCCCTGGGTGATTGAATTCACCTGCCTATATTCTCACTTAGCTCCCAGGTTTTCTGCCCTGGGTATGTATTTCATANNNNN | pathogenic | 342,184 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 154380194, gene EMD (emerin): what disease(s) if pathogenic? | benign | CACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACGCTACCAGCAGTCTGCGGGTGTTTTAACTGGAAAAAGCTGAAGTCCACCTCGGTGTCCAATGGCATGGGGATGGAAAGAAAATGAGGCGTCTCTGGCACATCATTCTCAGCTCCTGGAACTGCTGCTTGTTTAACATGGGAGAAAAGCTCCAAAGGCTGAAATGCCCCATCATCCCTGGGTGATTGAATTCACCTGCCTATATTCTCACTTAGCTCCCAGGTTTTCTGCCCTGGGTATGTATTTCATAATCTTCAAAGTATATATATATATAATTTTTTTTTTTGAGACGGAGTCATGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCTAGTAGCTGGGACTACAGTCGCGCACCACCATACCTGGCTAATTTTTGTAT | CACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACGCTACCAGCAGTCTGCGGGTGTTTTAACTGGAAAAAGCTGAAGTCCACCTCGGTGTCCAATGGCATGGGGATGGAAAGAAAATGAGGCGTCTCTGGCACATCATTCTCAGCTCCTGGAACTGCTGCTTGTTTAACATGGGAGAAAAGCTCCAAAGGCTGAAATGCCCCATCATCCCTGGGTGATTGAATTCACCTGCCTATATTCTCACTTAGCTCCCAGGTTTTCTGCCCTGGGTATGTATTTCATAATCTTCAAAGTATATATATATATAATTTTTTTTTTTGAGACGGAGTCATGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCTAGTAGCTGGGACTACAGTCGCGCACCACCATA | benign | 342,185 |
For chromosome X, position 154380739, gene EMD (emerin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACGCTACCAGCAGTCTGCGGGTGTTTTAACTGGAAAAAGCTGAAGTCCACCTCGGTGTCCAATGGCATGGGGATGGAAAGAAAATGAGGCGTCTCTGGCACATCATTCTCAGCTCCTGGAACTGCTGCTTGTTTAACATGGGAGAAAAGCTCCAAAGGCTGAAATGCCCCATCATCCCTGGGTGATTGAATTCACCTGCCTATATTCTCACTTAGCTCCCAGGTTTTCTGCCCTGGGTATGTATTTCATAATCTTCAAAGTATATATATATATAATTTTTTTTTTTGAGACGGAGTCATGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCTAGTAGCTGGGACTACAGTCGCGCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTATTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGGGATTACAAGTATGAGCCACCGTGCCCAGCCGAAGTTTACTATATATATTATATATTTATTTATTTTTTTGAGATGCAGTCTCACTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCATCGCAACCTCTGCCTCCTGAGTCCAAGCGATTCCCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCACCGTGCACGGCTATTGCTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCATGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACCGTGCCCAGTCTACATATATGTTTTTAAGTGGAAAGTGGGTACTAAAACCCAAGACAATGCCACGTGTTGCTGTGCATGCCTGGCTCTATGCTGCTGGCAGAGGGCGGGAGAGCAC | CAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACGCTACCAGCAGTCTGCGGGTGTTTTAACTGGAAAAAGCTGAAGTCCACCTCGGTGTCCAATGGCATGGGGATGGAAAGAAAATGAGGCGTCTCTGGCACATCATTCTCAGCTCCTGGAACTGCTGCTTGTTTAACATGGGAGAAAAGCTCCAAAGGCTGAAATGCCCCATCATCCCTGGGTGATTGAATTCACCTGCCTATATTCTCACTTAGCTCCCAGGTTTTCTGCCCTGGGTATGTATTTCATAATCTTCAAAGTATATATATATATAATTTTTTTTTTTGAGACGGAGTCATGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCTAGTAGCTGGGACTACAGTCGCGCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTATTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGGGATTACAAGTATGAGCCACCGTGCCCAGCCGAAGTTTACTATATATATTATATATTTATTTATTTTTTTGAGATGCAGTCTCACTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCATCGCAACCTCTGCCTCCTGAGTCCAAGCGATTCCCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCACCGTGCACGGCTATTGCTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCATGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACCGTGCCCAGTCTACATATATGTTTTTAAGTGGAAAGTGGGTACTAAAACCCAAGACAATGCCACGTGTTGCTGTGCATGCCTGGCTCTATGCTGCTGGCAGAGGGCGGGAGAGCACNN | benign | 342,205 |
Gene EMD (emerin) variant at chromosome position 154381051 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['X-linked_Emery-Dreifuss_muscular_dystrophy'] | CCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACGCTACCAGCAGTCTGCGGGTGTTTTAACTGGAAAAAGCTGAAGTCCACCTCGGTGTCCAATGGCATGGGGATGGAAAGAAAATGAGGCGTCTCTGGCACATCATTCTCAGCTCCTGGAACTGCTGCTTGTTTAACATGGGAGAAAAGCTCCAAAGGCTGAAATGCCCCATCATCCCTGGGTGATTGAATTCACCTGCCTATATTCTCACTTAGCTCCCAGGTTTTCTGCCCTGGGTATGTATTTCATAATCTTCAAAGTATATATATATATAATTTTTTTTTTTGAGACGGAGTCATGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCTAGTAGCTGGGACTACAGTCGCGCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTATTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGGGATTACAAGTATGAGCCACCGTGCCCAGCCGAAGTTTACTATATATATTATATATTTATTTATTTTTTTGAGATGCAGTCTCACTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCATCGCAACCTCTGCCTCCTGAGTCCAAGCGATTCCCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCACCGTGCACGGCTATTGCTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCATGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACCGTGCCCAGTCTACATATATGTTTTTAAGTGGAAAGTGGGTACTAAAACCCAAGACAATGCCACGTGTTGCTGTGCATGCCTGGCTCTATGCTGCTGGCAGAGGGCGGGAGAGCACAGAGGGGCTGCCGTCCACTGCACACGGGCAGGTGGGAAGCAGAGGCCCAGCAAGGGGTGGGGTGCTGGCATTAGTCACCCAAGCCTTTGGCTCCTTGCTGCAGGTAGTGGGACAGCCCAGCCTCCCACACTTGGCACAGCTCCCATGTAGTGCCTGCACATGCATTTGTGGAGGCAGGGCTGGGGCTGGGACCCTCCCTGGCTACTCCTGACCATTTATCTTGGCTGCATCCTCGTCTCTCCTCACGTATATTTTTGGTCCTAAAATAGTACATGGTCCTTGTGTGTTGCAAACATGCAGAAAAGAGTGAAT | CCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACGCTACCAGCAGTCTGCGGGTGTTTTAACTGGAAAAAGCTGAAGTCCACCTCGGTGTCCAATGGCATGGGGATGGAAAGAAAATGAGGCGTCTCTGGCACATCATTCTCAGCTCCTGGAACTGCTGCTTGTTTAACATGGGAGAAAAGCTCCAAAGGCTGAAATGCCCCATCATCCCTGGGTGATTGAATTCACCTGCCTATATTCTCACTTAGCTCCCAGGTTTTCTGCCCTGGGTATGTATTTCATAATCTTCAAAGTATATATATATATAATTTTTTTTTTTGAGACGGAGTCATGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCTAGTAGCTGGGACTACAGTCGCGCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTATTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGGGATTACAAGTATGAGCCACCGTGCCCAGCCGAAGTTTACTATATATATTATATATTTATTTATTTTTTTGAGATGCAGTCTCACTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCATCGCAACCTCTGCCTCCTGAGTCCAAGCGATTCCCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCACCGTGCACGGCTATTGCTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCATGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACCGTGCCCAGTCTACATATATGTTTTTAAGTGGAAAGTGGGTACTAAAACCCAAGACAATGCCACGTGTTGCTGTGCATGCCTGGCTCTATGCTGCTGGCAGAGGGCGGGAGAGCACAGAGGGGCTGCCGTCCACTGCACACGGGCAGGTGGGAAGCAGAGGCCCAGCAAGGGGTGGGGTGCTGGCATTAGTCACCCAAGCCTTTGGCTCCTTGCTGCAGGTAGTGGGACAGCCCAGCCTCCCACACTTGGCACAGCTCCCATGTAGTGCCTGCACATGCATTTGTGGAGGCAGGGCTGGGGCTGGGACCCTCCCTGGCTACTCCTGACCATTTATCTTGGCTGCATCCTCGTCTCTCCTCACGTATATTTTTGGTCCTAAAATAGTACATGGTCCTTGTGTGTTGCAAACATGCAGAAAAGAGTGAATN | pathogenic | 342,231 |
Variant in EMD (emerin), chromosome X, position 154381071—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['X-linked_Emery-Dreifuss_muscular_dystrophy'] | AGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACGCTACCAGCAGTCTGCGGGTGTTTTAACTGGAAAAAGCTGAAGTCCACCTCGGTGTCCAATGGCATGGGGATGGAAAGAAAATGAGGCGTCTCTGGCACATCATTCTCAGCTCCTGGAACTGCTGCTTGTTTAACATGGGAGAAAAGCTCCAAAGGCTGAAATGCCCCATCATCCCTGGGTGATTGAATTCACCTGCCTATATTCTCACTTAGCTCCCAGGTTTTCTGCCCTGGGTATGTATTTCATAATCTTCAAAGTATATATATATATAATTTTTTTTTTTGAGACGGAGTCATGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCTAGTAGCTGGGACTACAGTCGCGCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTATTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGGGATTACAAGTATGAGCCACCGTGCCCAGCCGAAGTTTACTATATATATTATATATTTATTTATTTTTTTGAGATGCAGTCTCACTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCATCGCAACCTCTGCCTCCTGAGTCCAAGCGATTCCCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCACCGTGCACGGCTATTGCTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCATGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACCGTGCCCAGTCTACATATATGTTTTTAAGTGGAAAGTGGGTACTAAAACCCAAGACAATGCCACGTGTTGCTGTGCATGCCTGGCTCTATGCTGCTGGCAGAGGGCGGGAGAGCACAGAGGGGCTGCCGTCCACTGCACACGGGCAGGTGGGAAGCAGAGGCCCAGCAAGGGGTGGGGTGCTGGCATTAGTCACCCAAGCCTTTGGCTCCTTGCTGCAGGTAGTGGGACAGCCCAGCCTCCCACACTTGGCACAGCTCCCATGTAGTGCCTGCACATGCATTTGTGGAGGCAGGGCTGGGGCTGGGACCCTCCCTGGCTACTCCTGACCATTTATCTTGGCTGCATCCTCGTCTCTCCTCACGTATATTTTTGGTCCTAAAATAGTACATGGTCCTTGTGTGTTGCAAACATGCAGAAAAGAGTGAATCACTTCTAATTTTCTTACCA | AGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACGCTACCAGCAGTCTGCGGGTGTTTTAACTGGAAAAAGCTGAAGTCCACCTCGGTGTCCAATGGCATGGGGATGGAAAGAAAATGAGGCGTCTCTGGCACATCATTCTCAGCTCCTGGAACTGCTGCTTGTTTAACATGGGAGAAAAGCTCCAAAGGCTGAAATGCCCCATCATCCCTGGGTGATTGAATTCACCTGCCTATATTCTCACTTAGCTCCCAGGTTTTCTGCCCTGGGTATGTATTTCATAATCTTCAAAGTATATATATATATAATTTTTTTTTTTGAGACGGAGTCATGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCTAGTAGCTGGGACTACAGTCGCGCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTATTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGGGATTACAAGTATGAGCCACCGTGCCCAGCCGAAGTTTACTATATATATTATATATTTATTTATTTTTTTGAGATGCAGTCTCACTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCATCGCAACCTCTGCCTCCTGAGTCCAAGCGATTCCCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCACCGTGCACGGCTATTGCTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCATGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACCGTGCCCAGTCTACATATATGTTTTTAAGTGGAAAGTGGGTACTAAAACCCAAGACAATGCCACGTGTTGCTGTGCATGCCTGGCTCTATGCTGCTGGCAGAGGGCGGGAGAGCACAGAGGGGCTGCCGTCCACTGCACACGGGCAGGTGGGAAGCAGAGGCCCAGCAAGGGGTGGGGTGCTGGCATTAGTCACCCAAGCCTTTGGCTCCTTGCTGCAGGTAGTGGGACAGCCCAGCCTCCCACACTTGGCACAGCTCCCATGTAGTGCCTGCACATGCATTTGTGGAGGCAGGGCTGGGGCTGGGACCCTCCCTGGCTACTCCTGACCATTTATCTTGGCTGCATCCTCGTCTCTCCTCACGTATATTTTTGGTCCTAAAATAGTACATGGTCCTTGTGTGTTGCAAACATGCAGAAAAGAGTGAATCACTTCTAATTTTCT | pathogenic | 342,233 |
Variant in EMD (emerin), chromosome X, position 154381072—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Neuromuscular_disease', 'X-linked_Emery-Dreifuss_muscular_dystrophy'] | GACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACGCTACCAGCAGTCTGCGGGTGTTTTAACTGGAAAAAGCTGAAGTCCACCTCGGTGTCCAATGGCATGGGGATGGAAAGAAAATGAGGCGTCTCTGGCACATCATTCTCAGCTCCTGGAACTGCTGCTTGTTTAACATGGGAGAAAAGCTCCAAAGGCTGAAATGCCCCATCATCCCTGGGTGATTGAATTCACCTGCCTATATTCTCACTTAGCTCCCAGGTTTTCTGCCCTGGGTATGTATTTCATAATCTTCAAAGTATATATATATATAATTTTTTTTTTTGAGACGGAGTCATGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCTAGTAGCTGGGACTACAGTCGCGCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTATTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGGGATTACAAGTATGAGCCACCGTGCCCAGCCGAAGTTTACTATATATATTATATATTTATTTATTTTTTTGAGATGCAGTCTCACTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCATCGCAACCTCTGCCTCCTGAGTCCAAGCGATTCCCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCACCGTGCACGGCTATTGCTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCATGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACCGTGCCCAGTCTACATATATGTTTTTAAGTGGAAAGTGGGTACTAAAACCCAAGACAATGCCACGTGTTGCTGTGCATGCCTGGCTCTATGCTGCTGGCAGAGGGCGGGAGAGCACAGAGGGGCTGCCGTCCACTGCACACGGGCAGGTGGGAAGCAGAGGCCCAGCAAGGGGTGGGGTGCTGGCATTAGTCACCCAAGCCTTTGGCTCCTTGCTGCAGGTAGTGGGACAGCCCAGCCTCCCACACTTGGCACAGCTCCCATGTAGTGCCTGCACATGCATTTGTGGAGGCAGGGCTGGGGCTGGGACCCTCCCTGGCTACTCCTGACCATTTATCTTGGCTGCATCCTCGTCTCTCCTCACGTATATTTTTGGTCCTAAAATAGTACATGGTCCTTGTGTGTTGCAAACATGCAGAAAAGAGTGAATCACTTCTAATTTTCTTACCAC | GACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACGCTACCAGCAGTCTGCGGGTGTTTTAACTGGAAAAAGCTGAAGTCCACCTCGGTGTCCAATGGCATGGGGATGGAAAGAAAATGAGGCGTCTCTGGCACATCATTCTCAGCTCCTGGAACTGCTGCTTGTTTAACATGGGAGAAAAGCTCCAAAGGCTGAAATGCCCCATCATCCCTGGGTGATTGAATTCACCTGCCTATATTCTCACTTAGCTCCCAGGTTTTCTGCCCTGGGTATGTATTTCATAATCTTCAAAGTATATATATATATAATTTTTTTTTTTGAGACGGAGTCATGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCTAGTAGCTGGGACTACAGTCGCGCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTATTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGGGATTACAAGTATGAGCCACCGTGCCCAGCCGAAGTTTACTATATATATTATATATTTATTTATTTTTTTGAGATGCAGTCTCACTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCATCGCAACCTCTGCCTCCTGAGTCCAAGCGATTCCCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCACCGTGCACGGCTATTGCTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCATGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACCGTGCCCAGTCTACATATATGTTTTTAAGTGGAAAGTGGGTACTAAAACCCAAGACAATGCCACGTGTTGCTGTGCATGCCTGGCTCTATGCTGCTGGCAGAGGGCGGGAGAGCACAGAGGGGCTGCCGTCCACTGCACACGGGCAGGTGGGAAGCAGAGGCCCAGCAAGGGGTGGGGTGCTGGCATTAGTCACCCAAGCCTTTGGCTCCTTGCTGCAGGTAGTGGGACAGCCCAGCCTCCCACACTTGGCACAGCTCCCATGTAGTGCCTGCACATGCATTTGTGGAGGCAGGGCTGGGGCTGGGACCCTCCCTGGCTACTCCTGACCATTTATCTTGGCTGCATCCTCGTCTCTCCTCACGTATATTTTTGGTCCTAAAATAGTACATGGTCCTTGTGTGTTGCAAACATGCAGAAAAGAGTGAATCACTTCTAATTTTCTT | pathogenic | 342,234 |
Gene EMD (emerin) variant at chromosome position 154381105 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Emery-Dreifuss_muscular_dystrophy_1,_X-linked', 'X-linked_Emery-Dreifuss_muscular_dystrophy'] | CCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACGCTACCAGCAGTCTGCGGGTGTTTTAACTGGAAAAAGCTGAAGTCCACCTCGGTGTCCAATGGCATGGGGATGGAAAGAAAATGAGGCGTCTCTGGCACATCATTCTCAGCTCCTGGAACTGCTGCTTGTTTAACATGGGAGAAAAGCTCCAAAGGCTGAAATGCCCCATCATCCCTGGGTGATTGAATTCACCTGCCTATATTCTCACTTAGCTCCCAGGTTTTCTGCCCTGGGTATGTATTTCATAATCTTCAAAGTATATATATATATAATTTTTTTTTTTGAGACGGAGTCATGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCTAGTAGCTGGGACTACAGTCGCGCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTATTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGGGATTACAAGTATGAGCCACCGTGCCCAGCCGAAGTTTACTATATATATTATATATTTATTTATTTTTTTGAGATGCAGTCTCACTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCATCGCAACCTCTGCCTCCTGAGTCCAAGCGATTCCCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCACCGTGCACGGCTATTGCTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCATGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACCGTGCCCAGTCTACATATATGTTTTTAAGTGGAAAGTGGGTACTAAAACCCAAGACAATGCCACGTGTTGCTGTGCATGCCTGGCTCTATGCTGCTGGCAGAGGGCGGGAGAGCACAGAGGGGCTGCCGTCCACTGCACACGGGCAGGTGGGAAGCAGAGGCCCAGCAAGGGGTGGGGTGCTGGCATTAGTCACCCAAGCCTTTGGCTCCTTGCTGCAGGTAGTGGGACAGCCCAGCCTCCCACACTTGGCACAGCTCCCATGTAGTGCCTGCACATGCATTTGTGGAGGCAGGGCTGGGGCTGGGACCCTCCCTGGCTACTCCTGACCATTTATCTTGGCTGCATCCTCGTCTCTCCTCACGTATATTTTTGGTCCTAAAATAGTACATGGTCCTTGTGTGTTGCAAACATGCAGAAAAGAGTGAATCACTTCTAATTTTCTTACCACTCACAGTTTCAGCCTTTCTTGTTTCATTGCTAT | CCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACGCTACCAGCAGTCTGCGGGTGTTTTAACTGGAAAAAGCTGAAGTCCACCTCGGTGTCCAATGGCATGGGGATGGAAAGAAAATGAGGCGTCTCTGGCACATCATTCTCAGCTCCTGGAACTGCTGCTTGTTTAACATGGGAGAAAAGCTCCAAAGGCTGAAATGCCCCATCATCCCTGGGTGATTGAATTCACCTGCCTATATTCTCACTTAGCTCCCAGGTTTTCTGCCCTGGGTATGTATTTCATAATCTTCAAAGTATATATATATATAATTTTTTTTTTTGAGACGGAGTCATGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCTAGTAGCTGGGACTACAGTCGCGCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTATTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGGGATTACAAGTATGAGCCACCGTGCCCAGCCGAAGTTTACTATATATATTATATATTTATTTATTTTTTTGAGATGCAGTCTCACTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCATCGCAACCTCTGCCTCCTGAGTCCAAGCGATTCCCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCACCGTGCACGGCTATTGCTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCATGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACCGTGCCCAGTCTACATATATGTTTTTAAGTGGAAAGTGGGTACTAAAACCCAAGACAATGCCACGTGTTGCTGTGCATGCCTGGCTCTATGCTGCTGGCAGAGGGCGGGAGAGCACAGAGGGGCTGCCGTCCACTGCACACGGGCAGGTGGGAAGCAGAGGCCCAGCAAGGGGTGGGGTGCTGGCATTAGTCACCCAAGCCTTTGGCTCCTTGCTGCAGGTAGTGGGACAGCCCAGCCTCCCACACTTGGCACAGCTCCCATGTAGTGCCTGCACATGCATTTGTGGAGGCAGGGCTGGGGCTGGGACCCTCCCTGGCTACTCCTGACCATTTATCTTGGCTGCATCCTCGTCTCTCCTCACGTATATTTTTGGTCCTAAAATAGTACATGGTCCTTGTGTGTTGCAAACATGCAGAAAAGAGTGAATCACTTCTAATTTTCTTACCACTCACAGTTTCAGCCTTTCTTGTTTCATTGCTATN | pathogenic | 342,236 |
Variant on chromosome X, at position 154412119, affecting TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['3-Methylglutaconic_aciduria_type_2', 'Cardiovascular_phenotype'] | CTACTAAAAATACAAAAAATTAGCCCGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAGCCTGGAAGGCGGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCGCACTCCAGCCCGGGCGACAGTGCGAGACTCCATCTCAAAAAAAAAAATCAATAAATTATGGTTTAAAAATAAAAAACAGGCCAGGTAGGATGACTCACACTTTGGGAGGAGAGGCAGACAGATCACCTGAGGCCGGGAGTTCGAGACCAGCTTGACCAACATGAAGAAACCCAGCCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCTTGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAATGAGCTGAGATCTCGTCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAATAAAAATAAATAAAAATAAAAATAAAAAACTGCCGGGTGCGGTGGCCCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGACTGCCTGAGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAAAAAAAAAAAATTAGCCGGGCGTGGCGACCTGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGTCTGGCGACAGAGCGAGACTCCTAAAAAAATAATAATAAATAAATAAATATAAAATAAAAATAAAAAACTGGCTGCTTAATGCATAGGGGGCTTTCTTTCCGGGTCATGAATATGTTTCAGAACTAGAGGTAGTAGCTGACATTGTGACTGTATCAGATGGTATAAAATACTGTTTCTTGTATTACATATGATACACAATATGTTTGTATATATTGCTGTATATATTGTATATTTTGCCATACAGTAGATTATACATTGCTACATACACATAGTATCATGTAGTACTGTAACTATGTCAAATTGTATATGTGGCTGGGCGGGGTGGCTCACGGCTGTCATCCCAACACTTTGGGAGGCCGAGGCGGGTGGATCAGAGTGTGATGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAGTCTGGGAGATCGAGGCTGCAGTGAGCCATGATCCCATCACTGCACTCCAGCCTGGGTCTGGCTGGACCCTGTGTCAAACAAAAAACAGAAACACTAGAGAGACAAAAGGCGAGCGCAGGAGGCTGCCAGGAAGCGGGAGCCCCACGGGGTGACGGCCACTTCCCGCCGCCCCGGGGCTGGCCTCGCTGCCGTCAAGCGGCCCGTGCGCGCTTTGCGACAGTCGGTCGGGCTGGGCACCGGCGCAGGTTCGCTTTCCGGCGGTTGCACCGGGCCGGGGTGCCAGCGCCCGCCTTCCCGTTTCCTCCCGTTCCGCAGCGCGCCCACGGCCTGTGACCCCGGCGACCGCTCCCCAGTGACGAGAGAGCGGGGCCGGGCGCTGCTCCGGCCTGACCTGCGAAGGGACCTCGGTCCAGTCCCCTGTTGCGCCGCGCCCCCGTCCGTCCGTGCGCGGGCCAGTCAGGGGCCAGTGTCTCGAGCGGTCGAGGTCGCAGACCTAGAGGCGCCCCACAGGCCGGCCCGGGGCGCTGGGAGCGCCGGCCGCGGGCCGGGTGGGGATGCCTCTGCACGTGAAGTGGCCGTTCCCCGCGGTGCCGCCGCTCACCTGGACCCTGGCCAGCAGCGTCGTCATGGGCTTGGTGGGCACCTACAGCTGCTTCTGGACCAGTGAGTGGGCCCAGGCCGAGGCAGGCCCGCCCGGGTACCCATGCCCGGCCGGAGGTGGGACTTAGGGTGGGGGACGCCGCGGCCCCGACCTAGCGGGCGAGCCCGGAGCGCCTGACTTCTCCTTCCCCGCCAGAGTACATGAACCACCTGACCGTGCACAACAGGGAGGTGCTGTACGAGCTCATCGAGAAGCGAGGCCCGGCCACGCCCCTCATCACCGTGTCCAATCACCAGTCCTGCATGGACGACCCTCATCTCTGGGGTACCCGGGCCAGTGTGCTGGGCAGGGGGAGGAAAGGCGAGGATTCGGGACGGGCCCAGCCTCGTCAGAACAAACCCCTTCTCGCTGCCTTTTCATGGAGCCCTGGCACTCCGGTTTCCGGGCGTTCTGCCCCAGGGCTGAGACTTGGATTTGTGGCTCCTGCAGCATCCCTGAGGGAGCATGATTTGGAGAGGGCCTTGGGCATGGAGCAGGACCAAGGAACGGCCACAGGGCATATCTTACAGCTCCTTTAACGTCAGGCCTCCAGAACCCTCTGTTCTCTAAACCATCCAGGGCCCCACAGTCTTGGGAAAAATTTGGGGGTTGGACATAGGATATCCTGTGAGGAAGTTCTGGGCCAGGGACTGGAAGCCCAGTGTCCTGGCTTCAGGTTTGCCCCTGGCTGGGCGTGTACCGTTCAGCCCTATTTGGGAGCCTGGTTGCCACACCTAGAGGTTCCTGCTCTGCTGACTTCACAGGAAGTTGCTTGGCTCTGGTAACCAGATGGCCGGGTGGAGGGGTGCCTGGGGCTTCCACTCCTGAACAGAGAGCTTAACTGTCCTAGAGTTCATGGGGAGCCACCTAGCCACACTGGAGCCCTTCAGAGCTCACCCTGGCTGCTGGGTGGAGAAAGGCCTATAGATGTCACAGGTGGATCCTGGGAGGCCAGGAAGGAGGACTTGGAGCCATCCACTAGCCTAGACTGGGCTGGTTGCAGTGACAGTACAGGGAGAAGTATAGAAGAATGGGCATTGTCCAAGTATGTTGGGGAGGTAGGCAGTCCAGGTGCAGTGATTAGTAAGATGTGGAGGGTGGGGGAGAGGGAGGAGCCAGGGAGAACTGAATGATCTGGCCTAAGGGTCTGAAAGATGCCACTTTGGGCTGTAGGGAAATGGTAGTGCTGCTGTCCCTCATTCCCTGAGATGGGGTGAAGGAAGGGCACTCCCTGGGGATATGGGAAGTTGGGGCATGAAGCCTTTCCTGTCCTCTAGGGATCCTGAAACTCCGCCACATCTGGAACCTGAAGTTGATGCGTTGGTGAGGAGGAATGGGCCCCTCGAAGTGGGCCGGGCCGGCCCCACCTGCCTCTGCCCAGATTTGCCCTCCTCCTGCTCTGCCCAGGAGGTGGCGTCCAGCAGTCCAGGCAGGGCATGGGGTGGGGCCCCGCAGGCCCTCCCCTGTGCCTCCCTTCTGCATGCTGATGCTGGGGGCAGGGTGGTGGAGCGGGGTGCAGGGGGCAGGACTAATTGCATCTGTCCCTGCTTAGGACCCCTGCAGCTGCAGACATCTGCTTCACCAAGGAGCTACACTCCCACTTCTTCAGCTTGGGCAAGTGTGTGCCTGTGTGCCGAGGTGAGCTGCTCCTCCAGCGAGTGCAGGGAGGCACTTCTGGGGCAGGAAAGCTGGTGGCCAGTGTCTCTGTTTTGGAGGGACCTATGGGGGTAGGCATCCCGGGAGCCAACATGAGGCCCAGCTCCATCACATGCCAGCAGAGGGGACAGAGGCTGTGGGAGGAGGGATGGGTCCTTGGAAAGTCCTCAACTCTCTGCAACTGCCCAGGGATCCTGTGGACCTGGAGCCTTGGCATTAGAATTCAAGGAGGCATTATCCATAACCCCTTCTCTCAGGGATGTCACTAAGAGACTCATTGAGAACAGTGCGTTGTCATTGGTCCATGGTGGCAGTAGCATGTACCTGCAGGCCAGAGGGTTTTGCTTCTAGGAGAACAAACAGGCTTGTGGGGTGAGAACCCCAGGGGATAGGGGCCATTTTGATCCCTATTCTCCAGACAGGGAGGATCACAGAGATTAAGCTGCTGGCCCAAGGTCATGGGGTAGGAGGTGGCAAAGCCAGGATTTGAATCCAGATTGCTCCTTCCTCTGCAGGAGCAGAATTTTTCCAAGCAGAGAATGAGGGGAAAGGTGTTCTAGACACAGGCAGGCACATGCCAG | CTACTAAAAATACAAAAAATTAGCCCGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAGCCTGGAAGGCGGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCGCACTCCAGCCCGGGCGACAGTGCGAGACTCCATCTCAAAAAAAAAAATCAATAAATTATGGTTTAAAAATAAAAAACAGGCCAGGTAGGATGACTCACACTTTGGGAGGAGAGGCAGACAGATCACCTGAGGCCGGGAGTTCGAGACCAGCTTGACCAACATGAAGAAACCCAGCCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCTTGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAATGAGCTGAGATCTCGTCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAATAAAAATAAATAAAAATAAAAATAAAAAACTGCCGGGTGCGGTGGCCCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGACTGCCTGAGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAAAAAAAAAAAATTAGCCGGGCGTGGCGACCTGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGTCTGGCGACAGAGCGAGACTCCTAAAAAAATAATAATAAATAAATAAATATAAAATAAAAATAAAAAACTGGCTGCTTAATGCATAGGGGGCTTTCTTTCCGGGTCATGAATATGTTTCAGAACTAGAGGTAGTAGCTGACATTGTGACTGTATCAGATGGTATAAAATACTGTTTCTTGTATTACATATGATACACAATATGTTTGTATATATTGCTGTATATATTGTATATTTTGCCATACAGTAGATTATACATTGCTACATACACATAGTATCATGTAGTACTGTAACTATGTCAAATTGTATATGTGGCTGGGCGGGGTGGCTCACGGCTGTCATCCCAACACTTTGGGAGGCCGAGGCGGGTGGATCAGAGTGTGATGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAGTCTGGGAGATCGAGGCTGCAGTGAGCCATGATCCCATCACTGCACTCCAGCCTGGGTCTGGCTGGACCCTGTGTCAAACAAAAAACAGAAACACTAGAGAGACAAAAGGCGAGCGCAGGAGGCTGCCAGGAAGCGGGAGCCCCACGGGGTGACGGCCACTTCCCGCCGCCCCGGGGCTGGCCTCGCTGCCGTCAAGCGGCCCGTGCGCGCTTTGCGACAGTCGGTCGGGCTGGGCACCGGCGCAGGTTCGCTTTCCGGCGGTTGCACCGGGCCGGGGTGCCAGCGCCCGCCTTCCCGTTTCCTCCCGTTCCGCAGCGCGCCCACGGCCTGTGACCCCGGCGACCGCTCCCCAGTGACGAGAGAGCGGGGCCGGGCGCTGCTCCGGCCTGACCTGCGAAGGGACCTCGGTCCAGTCCCCTGTTGCGCCGCGCCCCCGTCCGTCCGTGCGCGGGCCAGTCAGGGGCCAGTGTCTCGAGCGGTCGAGGTCGCAGACCTAGAGGCGCCCCACAGGCCGGCCCGGGGCGCTGGGAGCGCCGGCCGCGGGCCGGGTGGGGATGCCTCTGCACGTGAAGTGGCCGTTCCCCGCGGTGCCGCCGCTCACCTGGACCCTGGCCAGCAGCGTCGTCATGGGCTTGGTGGGCACCTACAGCTGCTTCTGGACCAGTGAGTGGGCCCAGGCCGAGGCAGGCCCGCCCGGGTACCCATGCCCGGCCGGAGGTGGGACTTAGGGTGGGGGACGCCGCGGCCCCGACCTAGCGGGCGAGCCCGGAGCGCCTGACTTCTCCTTCCCCGCCAGAGTACATGAACCACCTGACCGTGCACAACAGGGAGTGCTGTACGAGCTCATCGAGAAGCGAGGCCCGGCCACGCCCCTCATCACCGTGTCCAATCACCAGTCCTGCATGGACGACCCTCATCTCTGGGGTACCCGGGCCAGTGTGCTGGGCAGGGGGAGGAAAGGCGAGGATTCGGGACGGGCCCAGCCTCGTCAGAACAAACCCCTTCTCGCTGCCTTTTCATGGAGCCCTGGCACTCCGGTTTCCGGGCGTTCTGCCCCAGGGCTGAGACTTGGATTTGTGGCTCCTGCAGCATCCCTGAGGGAGCATGATTTGGAGAGGGCCTTGGGCATGGAGCAGGACCAAGGAACGGCCACAGGGCATATCTTACAGCTCCTTTAACGTCAGGCCTCCAGAACCCTCTGTTCTCTAAACCATCCAGGGCCCCACAGTCTTGGGAAAAATTTGGGGGTTGGACATAGGATATCCTGTGAGGAAGTTCTGGGCCAGGGACTGGAAGCCCAGTGTCCTGGCTTCAGGTTTGCCCCTGGCTGGGCGTGTACCGTTCAGCCCTATTTGGGAGCCTGGTTGCCACACCTAGAGGTTCCTGCTCTGCTGACTTCACAGGAAGTTGCTTGGCTCTGGTAACCAGATGGCCGGGTGGAGGGGTGCCTGGGGCTTCCACTCCTGAACAGAGAGCTTAACTGTCCTAGAGTTCATGGGGAGCCACCTAGCCACACTGGAGCCCTTCAGAGCTCACCCTGGCTGCTGGGTGGAGAAAGGCCTATAGATGTCACAGGTGGATCCTGGGAGGCCAGGAAGGAGGACTTGGAGCCATCCACTAGCCTAGACTGGGCTGGTTGCAGTGACAGTACAGGGAGAAGTATAGAAGAATGGGCATTGTCCAAGTATGTTGGGGAGGTAGGCAGTCCAGGTGCAGTGATTAGTAAGATGTGGAGGGTGGGGGAGAGGGAGGAGCCAGGGAGAACTGAATGATCTGGCCTAAGGGTCTGAAAGATGCCACTTTGGGCTGTAGGGAAATGGTAGTGCTGCTGTCCCTCATTCCCTGAGATGGGGTGAAGGAAGGGCACTCCCTGGGGATATGGGAAGTTGGGGCATGAAGCCTTTCCTGTCCTCTAGGGATCCTGAAACTCCGCCACATCTGGAACCTGAAGTTGATGCGTTGGTGAGGAGGAATGGGCCCCTCGAAGTGGGCCGGGCCGGCCCCACCTGCCTCTGCCCAGATTTGCCCTCCTCCTGCTCTGCCCAGGAGGTGGCGTCCAGCAGTCCAGGCAGGGCATGGGGTGGGGCCCCGCAGGCCCTCCCCTGTGCCTCCCTTCTGCATGCTGATGCTGGGGGCAGGGTGGTGGAGCGGGGTGCAGGGGGCAGGACTAATTGCATCTGTCCCTGCTTAGGACCCCTGCAGCTGCAGACATCTGCTTCACCAAGGAGCTACACTCCCACTTCTTCAGCTTGGGCAAGTGTGTGCCTGTGTGCCGAGGTGAGCTGCTCCTCCAGCGAGTGCAGGGAGGCACTTCTGGGGCAGGAAAGCTGGTGGCCAGTGTCTCTGTTTTGGAGGGACCTATGGGGGTAGGCATCCCGGGAGCCAACATGAGGCCCAGCTCCATCACATGCCAGCAGAGGGGACAGAGGCTGTGGGAGGAGGGATGGGTCCTTGGAAAGTCCTCAACTCTCTGCAACTGCCCAGGGATCCTGTGGACCTGGAGCCTTGGCATTAGAATTCAAGGAGGCATTATCCATAACCCCTTCTCTCAGGGATGTCACTAAGAGACTCATTGAGAACAGTGCGTTGTCATTGGTCCATGGTGGCAGTAGCATGTACCTGCAGGCCAGAGGGTTTTGCTTCTAGGAGAACAAACAGGCTTGTGGGGTGAGAACCCCAGGGGATAGGGGCCATTTTGATCCCTATTCTCCAGACAGGGAGGATCACAGAGATTAAGCTGCTGGCCCAAGGTCATGGGGTAGGAGGTGGCAAAGCCAGGATTTGAATCCAGATTGCTCCTTCCTCTGCAGGAGCAGAATTTTTCCAAGCAGAGAATGAGGGGAAAGGTGTTCTAGACACAGGCAGGCACATGCCAGN | pathogenic | 342,257 |
Variant on chromosome X, at position 154413199, affecting TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ATTGTATATGTGGCTGGGCGGGGTGGCTCACGGCTGTCATCCCAACACTTTGGGAGGCCGAGGCGGGTGGATCAGAGTGTGATGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAGTCTGGGAGATCGAGGCTGCAGTGAGCCATGATCCCATCACTGCACTCCAGCCTGGGTCTGGCTGGACCCTGTGTCAAACAAAAAACAGAAACACTAGAGAGACAAAAGGCGAGCGCAGGAGGCTGCCAGGAAGCGGGAGCCCCACGGGGTGACGGCCACTTCCCGCCGCCCCGGGGCTGGCCTCGCTGCCGTCAAGCGGCCCGTGCGCGCTTTGCGACAGTCGGTCGGGCTGGGCACCGGCGCAGGTTCGCTTTCCGGCGGTTGCACCGGGCCGGGGTGCCAGCGCCCGCCTTCCCGTTTCCTCCCGTTCCGCAGCGCGCCCACGGCCTGTGACCCCGGCGACCGCTCCCCAGTGACGAGAGAGCGGGGCCGGGCGCTGCTCCGGCCTGACCTGCGAAGGGACCTCGGTCCAGTCCCCTGTTGCGCCGCGCCCCCGTCCGTCCGTGCGCGGGCCAGTCAGGGGCCAGTGTCTCGAGCGGTCGAGGTCGCAGACCTAGAGGCGCCCCACAGGCCGGCCCGGGGCGCTGGGAGCGCCGGCCGCGGGCCGGGTGGGGATGCCTCTGCACGTGAAGTGGCCGTTCCCCGCGGTGCCGCCGCTCACCTGGACCCTGGCCAGCAGCGTCGTCATGGGCTTGGTGGGCACCTACAGCTGCTTCTGGACCAGTGAGTGGGCCCAGGCCGAGGCAGGCCCGCCCGGGTACCCATGCCCGGCCGGAGGTGGGACTTAGGGTGGGGGACGCCGCGGCCCCGACCTAGCGGGCGAGCCCGGAGCGCCTGACTTCTCCTTCCCCGCCAGAGTACATGAACCACCTGACCGTGCACAACAGGGAGGTGCTGTACGAGCTCATCGAGAAGCGAGGCCCGGCCACGCCCCTCATCACCGTGTCCAATCACCAGTCCTGCATGGACGACCCTCATCTCTGGGGTACCCGGGCCAGTGTGCTGGGCAGGGGGAGGAAAGGCGAGGATTCGGGACGGGCCCAGCCTCGTCAGAACAAACCCCTTCTCGCTGCCTTTTCATGGAGCCCTGGCACTCCGGTTTCCGGGCGTTCTGCCCCAGGGCTGAGACTTGGATTTGTGGCTCCTGCAGCATCCCTGAGGGAGCATGATTTGGAGAGGGCCTTGGGCATGGAGCAGGACCAAGGAACGGCCACAGGGCATATCTTACAGCTCCTTTAACGTCAGGCCTCCAGAACCCTCTGTTCTCTAAACCATCCAGGGCCCCACAGTCTTGGGAAAAATTTGGGGGTTGGACATAGGATATCCTGTGAGGAAGTTCTGGGCCAGGGACTGGAAGCCCAGTGTCCTGGCTTCAGGTTTGCCCCTGGCTGGGCGTGTACCGTTCAGCCCTATTTGGGAGCCTGGTTGCCACACCTAGAGGTTCCTGCTCTGCTGACTTCACAGGAAGTTGCTTGGCTCTGGTAACCAGATGGCCGGGTGGAGGGGTGCCTGGGGCTTCCACTCCTGAACAGAGAGCTTAACTGTCCTAGAGTTCATGGGGAGCCACCTAGCCACACTGGAGCCCTTCAGAGCTCACCCTGGCTGCTGGGTGGAGAAAGGCCTATAGATGTCACAGGTGGATCCTGGGAGGCCAGGAAGGAGGACTTGGAGCCATCCACTAGCCTAGACTGGGCTGGTTGCAGTGACAGTACAGGGAGAAGTATAGAAGAATGGGCATTGTCCAAGTATGTTGGGGAGGTAGGCAGTCCAGGTGCAGTGATTAGTAAGATGTGGAGGGTGGGGGAGAGGGAGGAGCCAGGGAGAACTGAATGATCTGGCCTAAGGGTCTGAAAGATGCCACTTTGGGCTGTAGGGAAATGGTAGTGCTGCTGTCCCTCATTCCCTGAGATGGGGTGAAGGAAGGGCACTCCCTGGGGATATGGGAAGTTGGGGCATGAAGCCTTTCCTGTCCTCTAGGGATCCTGAAACTCCGCCACATCTGGAACCTGAAGTTGATGCGTTGGTGAGGAGGAATGGGCCCCTCGAAGTGGGCCGGGCCGGCCCCACCTGCCTCTGCCCAGATTTGCCCTCCTCCTGCTCTGCCCAGGAGGTGGCGTCCAGCAGTCCAGGCAGGGCATGGGGTGGGGCCCCGCAGGCCCTCCCCTGTGCCTCCCTTCTGCATGCTGATGCTGGGGGCAGGGTGGTGGAGCGGGGTGCAGGGGGCAGGACTAATTGCATCTGTCCCTGCTTAGGACCCCTGCAGCTGCAGACATCTGCTTCACCAAGGAGCTACACTCCCACTTCTTCAGCTTGGGCAAGTGTGTGCCTGTGTGCCGAGGTGAGCTGCTCCTCCAGCGAGTGCAGGGAGGCACTTCTGGGGCAGGAAAGCTGGTGGCCAGTGTCTCTGTTTTGGAGGGACCTATGGGGGTAGGCATCCCGGGAGCCAACATGAGGCCCAGCTCCATCACATGCCAGCAGAGGGGACAGAGGCTGTGGGAGGAGGGATGGGTCCTTGGAAAGTCCTCAACTCTCTGCAACTGCCCAGGGATCCTGTGGACCTGGAGCCTTGGCATTAGAATTCAAGGAGGCATTATCCATAACCCCTTCTCTCAGGGATGTCACTAAGAGACTCATTGAGAACAGTGCGTTGTCATTGGTCCATGGTGGCAGTAGCATGTACCTGCAGGCCAGAGGGTTTTGCTTCTAGGAGAACAAACAGGCTTGTGGGGTGAGAACCCCAGGGGATAGGGGCCATTTTGATCCCTATTCTCCAGACAGGGAGGATCACAGAGATTAAGCTGCTGGCCCAAGGTCATGGGGTAGGAGGTGGCAAAGCCAGGATTTGAATCCAGATTGCTCCTTCCTCTGCAGGAGCAGAATTTTTCCAAGCAGAGAATGAGGGGAAAGGTGTTCTAGACACAGGCAGGCACATGCCAGGTGCTGGAAAAAGAAGAGAGAAAGGTAAGCCAGGCATAGCGGTTCACACTTGTCATCCCAGCACTTTGTGAGGTCGAGGTGAGAGGATCACTCAAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTAAGACCCTGTCTCTTTAAAAATAAAAATATTTTAAACAAAAGAAAGGTAGAAAATATGAGTTGTATGTAGAATATGAAGGTTCTAGAATAATCCTATTAAGAATTTTGGATTCTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCAGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTAGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGTGGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAGTGCCGGCCACGGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAATTCGAGACCAGCCTAACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGTGTGCCTGTAATCTCAGCTACTTGGGAGACTGAGACGGGAGCATTGCTTGAACCCGGGAGGTGGAGGTTGTGGTGAGCTGAGATCCTGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTGGAAAAAAAAAAAAAAAAAAAGAATTTTGAATTAGCTGGCTGCATTGGTGCATGCCTACAGTCCCAGCTCCTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCTCGATTTTCTTTTTCCTTGAGACAATGTCTGTTTCTGTTGTCCAGGCTGGAGTGCCGTGGCGTGATGATGGCTCACTGCAGCTTCTGTTTCCTGGGTTCAAGGGATCCTGTCACCTCAGCCTCCTGAGCAGCTGGGACTAAGGAGTGTGCCCA | ATTGTATATGTGGCTGGGCGGGGTGGCTCACGGCTGTCATCCCAACACTTTGGGAGGCCGAGGCGGGTGGATCAGAGTGTGATGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAGTCTGGGAGATCGAGGCTGCAGTGAGCCATGATCCCATCACTGCACTCCAGCCTGGGTCTGGCTGGACCCTGTGTCAAACAAAAAACAGAAACACTAGAGAGACAAAAGGCGAGCGCAGGAGGCTGCCAGGAAGCGGGAGCCCCACGGGGTGACGGCCACTTCCCGCCGCCCCGGGGCTGGCCTCGCTGCCGTCAAGCGGCCCGTGCGCGCTTTGCGACAGTCGGTCGGGCTGGGCACCGGCGCAGGTTCGCTTTCCGGCGGTTGCACCGGGCCGGGGTGCCAGCGCCCGCCTTCCCGTTTCCTCCCGTTCCGCAGCGCGCCCACGGCCTGTGACCCCGGCGACCGCTCCCCAGTGACGAGAGAGCGGGGCCGGGCGCTGCTCCGGCCTGACCTGCGAAGGGACCTCGGTCCAGTCCCCTGTTGCGCCGCGCCCCCGTCCGTCCGTGCGCGGGCCAGTCAGGGGCCAGTGTCTCGAGCGGTCGAGGTCGCAGACCTAGAGGCGCCCCACAGGCCGGCCCGGGGCGCTGGGAGCGCCGGCCGCGGGCCGGGTGGGGATGCCTCTGCACGTGAAGTGGCCGTTCCCCGCGGTGCCGCCGCTCACCTGGACCCTGGCCAGCAGCGTCGTCATGGGCTTGGTGGGCACCTACAGCTGCTTCTGGACCAGTGAGTGGGCCCAGGCCGAGGCAGGCCCGCCCGGGTACCCATGCCCGGCCGGAGGTGGGACTTAGGGTGGGGGACGCCGCGGCCCCGACCTAGCGGGCGAGCCCGGAGCGCCTGACTTCTCCTTCCCCGCCAGAGTACATGAACCACCTGACCGTGCACAACAGGGAGGTGCTGTACGAGCTCATCGAGAAGCGAGGCCCGGCCACGCCCCTCATCACCGTGTCCAATCACCAGTCCTGCATGGACGACCCTCATCTCTGGGGTACCCGGGCCAGTGTGCTGGGCAGGGGGAGGAAAGGCGAGGATTCGGGACGGGCCCAGCCTCGTCAGAACAAACCCCTTCTCGCTGCCTTTTCATGGAGCCCTGGCACTCCGGTTTCCGGGCGTTCTGCCCCAGGGCTGAGACTTGGATTTGTGGCTCCTGCAGCATCCCTGAGGGAGCATGATTTGGAGAGGGCCTTGGGCATGGAGCAGGACCAAGGAACGGCCACAGGGCATATCTTACAGCTCCTTTAACGTCAGGCCTCCAGAACCCTCTGTTCTCTAAACCATCCAGGGCCCCACAGTCTTGGGAAAAATTTGGGGGTTGGACATAGGATATCCTGTGAGGAAGTTCTGGGCCAGGGACTGGAAGCCCAGTGTCCTGGCTTCAGGTTTGCCCCTGGCTGGGCGTGTACCGTTCAGCCCTATTTGGGAGCCTGGTTGCCACACCTAGAGGTTCCTGCTCTGCTGACTTCACAGGAAGTTGCTTGGCTCTGGTAACCAGATGGCCGGGTGGAGGGGTGCCTGGGGCTTCCACTCCTGAACAGAGAGCTTAACTGTCCTAGAGTTCATGGGGAGCCACCTAGCCACACTGGAGCCCTTCAGAGCTCACCCTGGCTGCTGGGTGGAGAAAGGCCTATAGATGTCACAGGTGGATCCTGGGAGGCCAGGAAGGAGGACTTGGAGCCATCCACTAGCCTAGACTGGGCTGGTTGCAGTGACAGTACAGGGAGAAGTATAGAAGAATGGGCATTGTCCAAGTATGTTGGGGAGGTAGGCAGTCCAGGTGCAGTGATTAGTAAGATGTGGAGGGTGGGGGAGAGGGAGGAGCCAGGGAGAACTGAATGATCTGGCCTAAGGGTCTGAAAGATGCCACTTTGGGCTGTAGGGAAATGGTAGTGCTGCTGTCCCTCATTCCCTGAGATGGGGTGAAGGAAGGGCACTCCCTGGGGATATGGGAAGTTGGGGCATGAAGCCTTTCCTGTCTCTAGGGATCCTGAAACTCCGCCACATCTGGAACCTGAAGTTGATGCGTTGGTGAGGAGGAATGGGCCCCTCGAAGTGGGCCGGGCCGGCCCCACCTGCCTCTGCCCAGATTTGCCCTCCTCCTGCTCTGCCCAGGAGGTGGCGTCCAGCAGTCCAGGCAGGGCATGGGGTGGGGCCCCGCAGGCCCTCCCCTGTGCCTCCCTTCTGCATGCTGATGCTGGGGGCAGGGTGGTGGAGCGGGGTGCAGGGGGCAGGACTAATTGCATCTGTCCCTGCTTAGGACCCCTGCAGCTGCAGACATCTGCTTCACCAAGGAGCTACACTCCCACTTCTTCAGCTTGGGCAAGTGTGTGCCTGTGTGCCGAGGTGAGCTGCTCCTCCAGCGAGTGCAGGGAGGCACTTCTGGGGCAGGAAAGCTGGTGGCCAGTGTCTCTGTTTTGGAGGGACCTATGGGGGTAGGCATCCCGGGAGCCAACATGAGGCCCAGCTCCATCACATGCCAGCAGAGGGGACAGAGGCTGTGGGAGGAGGGATGGGTCCTTGGAAAGTCCTCAACTCTCTGCAACTGCCCAGGGATCCTGTGGACCTGGAGCCTTGGCATTAGAATTCAAGGAGGCATTATCCATAACCCCTTCTCTCAGGGATGTCACTAAGAGACTCATTGAGAACAGTGCGTTGTCATTGGTCCATGGTGGCAGTAGCATGTACCTGCAGGCCAGAGGGTTTTGCTTCTAGGAGAACAAACAGGCTTGTGGGGTGAGAACCCCAGGGGATAGGGGCCATTTTGATCCCTATTCTCCAGACAGGGAGGATCACAGAGATTAAGCTGCTGGCCCAAGGTCATGGGGTAGGAGGTGGCAAAGCCAGGATTTGAATCCAGATTGCTCCTTCCTCTGCAGGAGCAGAATTTTTCCAAGCAGAGAATGAGGGGAAAGGTGTTCTAGACACAGGCAGGCACATGCCAGGTGCTGGAAAAAGAAGAGAGAAAGGTAAGCCAGGCATAGCGGTTCACACTTGTCATCCCAGCACTTTGTGAGGTCGAGGTGAGAGGATCACTCAAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTAAGACCCTGTCTCTTTAAAAATAAAAATATTTTAAACAAAAGAAAGGTAGAAAATATGAGTTGTATGTAGAATATGAAGGTTCTAGAATAATCCTATTAAGAATTTTGGATTCTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCAGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTAGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGTGGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAGTGCCGGCCACGGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAATTCGAGACCAGCCTAACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGTGTGCCTGTAATCTCAGCTACTTGGGAGACTGAGACGGGAGCATTGCTTGAACCCGGGAGGTGGAGGTTGTGGTGAGCTGAGATCCTGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTGGAAAAAAAAAAAAAAAAAAAGAATTTTGAATTAGCTGGCTGCATTGGTGCATGCCTACAGTCCCAGCTCCTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCTCGATTTTCTTTTTCCTTGAGACAATGTCTGTTTCTGTTGTCCAGGCTGGAGTGCCGTGGCGTGATGATGGCTCACTGCAGCTTCTGTTTCCTGGGTTCAAGGGATCCTGTCACCTCAGCCTCCTGAGCAGCTGGGACTAAGGAGTGTGCCCAN | benign | 342,267 |
Clinical classification of chromosome X, position 154419595, gene TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['3-Methylglutaconic_aciduria_type_2'] | AGGAGGGGTTTATTATTTCTAGCTGGTCAAAGTAGAATGTGGTAAAACCCAATAAAGTAACAGCAAATAACAAAGAGGGGCTTTTAATGGAAAGCTGCAGTGCCTGCCCCTCACCTCCCTAGCCCCACTCCTCAGAAGCAGCCCCCTGGAGCGGTTTCTCTTTCTGCTGCTTTTGGAGGCTACTTCTGTCTCTGTAAAGGAACTTCTGTCTCTGTAAAGGAACAAGCAGAGGCCACAGTGTCTTGGCAAATGACCGTGGCATTGTTTATCCCAACCTGCTCTGAGAGATGGGGACTCTGCTGATTCACCCCTCGTCCCTGCCTCTTTAGTTCCTTCAGCAAAGAACTAATAATATGTCATTAAGGCAAAGGCAGTATTTGGCACACTTGGCTTCTGTGTTCCAAAAAATTCCCTTTTTCTCCAAGCGTAGATTTTAATATGGTATTTAAGTATCAAAGTGATTTGACACAAGTGACACAAGTGAGCAGTAGTAGCATTTGCAAAAGCTACAAATGATGAAGTCTTGCTCCAAAAGCATATTATTATTATTTTTTAAATTCCAGTTTCAAGCTCAATGGATAGGTTGCGTCAGTGGGTTTTAGTAGAGAAGGGGCCAGTACCTATGAAGACTCCCCTGTACTATTACACATGCTGCGTCCCAAGTAGGGAAACTCCAGTGGGTCATCACCCCCTCCCTCTAGCCCAAGTGGGCTGCTGGGTCAGGGCACTGTTTGGGTTGGGTTGAGATTCCTGGATCCCTAACTAGCACCTTCCAAAGAATCGGCCTTGCAGAGAACAAAGTTCATTGCCAAAGGTATTCCCAATGTCTGTCTCTCGCTCTGTGATAGGGCTTCTTTACTCCCCACTTTATAAGATGAGGATATCTGCTATACCCCATTCCTTCAACCTCTCCACCTCTTTCCTCTTTTGTCTGCCATGTGATTACTTTTCCATCACCAAGGTTGATGAGATCCTTACTGTGTACTTACTGTCTCCAAGCATCCCCAGGCTTCCAGCCAGCACGCAGCAGCCAACATTGGCTTCAGAAGGAAGGAGGTTTGCATTTCCTTCTCTTGGGTCCAGTGCCATGGTCTCAGGGTTATCTCCAATGTGGAAAGTTGCTAGACCAGGAGCAGTTTGACTCCACTGTTTTTCAGTCTAGCAAGTTTGAGTTTTTCCCAAGCTCTTGATGTGTGTTCAAATGAATGTTCTCCCTTTCCCAAGAGACCTCCCTATAAGGGAGGGTCTAGTTTCCCGGGGTGCCCTGAGAAGAAGGGGTCAGCAGGGGGGAGGAATGGTGGAGGCTGAGGCCTCAGGCAGGTGCCCTGTGAGGAGTGGCTGTGACAAGCGGCTGAGATCCCAGCAAAGGGTTGTTGCCCAGAATCTGGGGCCTAAGCGAGGTTGGAAATCACAAATGCACTTGGTTTCTCTAGCAGCTGGCACATAGTAGGATCAGCCCAGGAGTGGCACCTTCAAAGAGAAAGGAACGCATGAGGCTCCGAGAGCGGTCGGCTGGCAGCCAGGGCCTGGCTGGGGAGGGAGGGCAGGTGGTGCGCTGACCTGGGGATCTTTGAGAGTGTGCAGGAGTATGTGGCTGAAGCGGCCCAGCTGGTGAGCCACTGAAGATGGGGGTCATAGGTAGATGGAGGAATTGCCAGGTCAGAATCTCGGTAGGAGATGACTTGAGCTGATGCTGCCTGGCACATAGGGGTTTAGAAGATATTAGGAAGGAAGCCCCACAGCGTGCCCAAGTGCCATGCAGGCCCTGGAGACGGTCATTGGAGGGCGTCTGTGGATGGCGCAGTGGGGGATGGGAAGTCCCTAATCTGCTGGGGCTTTCCCAGCAAGCAGGGACTGAGGGGGATAGTCCCCAACACATGGGCCCCAGGGAGAAGGGCCTGTTTCATTGAGGTTTGGAGAGTGTTGAGGGTAAGCTAACCTGTCACCCCACGCCCCCGAGAATGGTTACTGATAGGGAGAGGCCTTTTCCTTGCAGGAGATGGCGTCTACCAGAAGGGGATGGACTTCATTTTGGAGAAGCTCAACCATGGGGACTGGGTGCATATCTTCCCAGAAGGTCAGCAGGGCTGACTGGGTCGAGCCCCCCCAGTATGAGCGGGATGGGCTCCCAAGCCTCGCCTCTGTGCTCTCTCACCAGGGAAAGTGAACATGAGTTCCGAATTCCTGCGTTTCAAGTGGGGTAAGGGCTGCTGGTCTCTGGCCACAGCCATCCTCCCGGCCCAGAGATGGCCCTGTGGGCCCCTGGCTCCCGCCCCCTCGGGCTGGCTTGTATGGGGGTAGATGGGCGTGTTTGTAGCGCCAGGAAGGGGACAGGTGCTGAGACTAGGCCTGCCTCTCGCAGGGGCTTGCCCAAGGGAGCTGAATTGAACTGGAGGATGTCGGGGGTGGCAGTGGCCAGAGGCTGGCACAGAAGCTTGGCTCAGGGCCCAGCTTATGCTAACATTTCTACCTCCCCCCTGGGCAGGAATCGGGCGCCTGATTGCTGAGTGTCATCTCAACCCCATCATCCTGCCCCTGTGGCATGTCGGTGAGCCTGGGGACGGGGACAGAGAGATGGCATCTGGGGTGGGGGGCCTGGGACTCCCTCTGGTCCCAGGCTGCCCTGCTCCACCCCACGTCTGGCCTTCTGTCCACTGTGCTGCAGGAATGAATGACGTCCTTCCTAACAGTCCGCCCTACTTCCCCCGCTTTGGACAGGTGGGTGGGGACTGCTGACCTTCGGCTGTCTGCCTGTCTGCTGTCTGCTCCGTGTCTCCCACTCAGCACTATGGAGGCCAGCTGCAGGAGGAGCTGAGCATGAGGCTACAGCAGGGGACAGAGTGGAACATAGACAGGGACTTCCTGGCACCGAGACATTAAAATGAGAGCAGAGGAAGTCAGGCTGGGGCAGAGGTGGGCTGTGGGGTCAGGACAGGACAGGTCATCTACAGCACAGGACCCAGGACCAGGACCTTGTTTTAGAGGAAGAGTGGCCCCTGGGGAGTGTGTGGCACAGCAGGGCCGGGGCTTAGCTTCTGGCTCCCGGGTTGCTTGGGCTGGGGCTGTGGGCACTCCTACTGCTCCTCATCACTCTTGGCGGCCACCCCACAGAAAATCACTGTGCTGATCGGGAAGCCCTTCAGTGCCCTGCCTGTACTCGAGCGGCTCCGGGCGGAGAACAAGTCGGCTGTGAGTTTCCTCCTGGGTCCCCCGTAGCTGTCCCCGGACCCCCTGCTGCTGGCTTCCAGCAGGGTGCCTCCACCCTCTCCATCCCGTCACCCTCCCAGGGCACCCTCCCAGGGCACCTTGGCCAAGCTTCCCGAGGGGTGCAGGCCATCCCTGGTCCTTTCCCTCAGGTGGAGATGCGGAAAGCCCTGACGGACTTCATTCAAGAGGAATTCCAGCATCTGAAGACTCAGGCAGAGCAGCTCCACAACCACCTCCAGCCTGGGAGATAGGCCTTGCTTGCTGCCTTCTGGATTCTTGGCCCGCACAGAGCTGGGGCTGAGGGATGGACTGATGCTTTTAGCTCAAACGTGGCTTTTAGACAGATTTGTTCATAGACCCTCTCAAGTGCCCTCTCCGAGCTGGTAGGCATTCCAGCTCCTCCGTGCTTCCTCAGTTACACAAAGGACCTCAGCTGCTTCTCCCACTTGGCCAAGCAGGGAGGAAGAAGCTTAGGCAGGGCTCTCTTTCCTTCTTGCCTTCAGATGTTCTCTCCCAGGGGCTGGCTTCAGGAGGGAGCATAGAAGGCAGGTGAGCAACCAGTTGGCTAGGGGAGCAGGGGGCCCACCAGAGCTGTGGAGAGGGGACCCTAAGACTCCTCGGCCTGGCTCCTACCCACCGCCCTTGCCGAACCAGGAGCTGCTCACTACCTCCTCAGGGATGGCCGTTGGCCACGTCTTCCTTCTGCCTGAGCTTCCCCCCCACCACAGGCCCTTTCCTCAGGCAAGGTCTGGCCTCAGGTGGGCCGCAGGCGGGAAAAGCAGCCCTTGGCCAGAAGTCAAGCCCAGCCACGTGGAGCCTAGAGTGAGGGCCTGAGGTCTGGCTGCTTGCCCCCATGCTGGCGCCAACAACTTCTCCATCCTTTCTGCCT | AGGAGGGGTTTATTATTTCTAGCTGGTCAAAGTAGAATGTGGTAAAACCCAATAAAGTAACAGCAAATAACAAAGAGGGGCTTTTAATGGAAAGCTGCAGTGCCTGCCCCTCACCTCCCTAGCCCCACTCCTCAGAAGCAGCCCCCTGGAGCGGTTTCTCTTTCTGCTGCTTTTGGAGGCTACTTCTGTCTCTGTAAAGGAACTTCTGTCTCTGTAAAGGAACAAGCAGAGGCCACAGTGTCTTGGCAAATGACCGTGGCATTGTTTATCCCAACCTGCTCTGAGAGATGGGGACTCTGCTGATTCACCCCTCGTCCCTGCCTCTTTAGTTCCTTCAGCAAAGAACTAATAATATGTCATTAAGGCAAAGGCAGTATTTGGCACACTTGGCTTCTGTGTTCCAAAAAATTCCCTTTTTCTCCAAGCGTAGATTTTAATATGGTATTTAAGTATCAAAGTGATTTGACACAAGTGACACAAGTGAGCAGTAGTAGCATTTGCAAAAGCTACAAATGATGAAGTCTTGCTCCAAAAGCATATTATTATTATTTTTTAAATTCCAGTTTCAAGCTCAATGGATAGGTTGCGTCAGTGGGTTTTAGTAGAGAAGGGGCCAGTACCTATGAAGACTCCCCTGTACTATTACACATGCTGCGTCCCAAGTAGGGAAACTCCAGTGGGTCATCACCCCCTCCCTCTAGCCCAAGTGGGCTGCTGGGTCAGGGCACTGTTTGGGTTGGGTTGAGATTCCTGGATCCCTAACTAGCACCTTCCAAAGAATCGGCCTTGCAGAGAACAAAGTTCATTGCCAAAGGTATTCCCAATGTCTGTCTCTCGCTCTGTGATAGGGCTTCTTTACTCCCCACTTTATAAGATGAGGATATCTGCTATACCCCATTCCTTCAACCTCTCCACCTCTTTCCTCTTTTGTCTGCCATGTGATTACTTTTCCATCACCAAGGTTGATGAGATCCTTACTGTGTACTTACTGTCTCCAAGCATCCCCAGGCTTCCAGCCAGCACGCAGCAGCCAACATTGGCTTCAGAAGGAAGGAGGTTTGCATTTCCTTCTCTTGGGTCCAGTGCCATGGTCTCAGGGTTATCTCCAATGTGGAAAGTTGCTAGACCAGGAGCAGTTTGACTCCACTGTTTTTCAGTCTAGCAAGTTTGAGTTTTTCCCAAGCTCTTGATGTGTGTTCAAATGAATGTTCTCCCTTTCCCAAGAGACCTCCCTATAAGGGAGGGTCTAGTTTCCCGGGGTGCCCTGAGAAGAAGGGGTCAGCAGGGGGGAGGAATGGTGGAGGCTGAGGCCTCAGGCAGGTGCCCTGTGAGGAGTGGCTGTGACAAGCGGCTGAGATCCCAGCAAAGGGTTGTTGCCCAGAATCTGGGGCCTAAGCGAGGTTGGAAATCACAAATGCACTTGGTTTCTCTAGCAGCTGGCACATAGTAGGATCAGCCCAGGAGTGGCACCTTCAAAGAGAAAGGAACGCATGAGGCTCCGAGAGCGGTCGGCTGGCAGCCAGGGCCTGGCTGGGGAGGGAGGGCAGGTGGTGCGCTGACCTGGGGATCTTTGAGAGTGTGCAGGAGTATGTGGCTGAAGCGGCCCAGCTGGTGAGCCACTGAAGATGGGGGTCATAGGTAGATGGAGGAATTGCCAGGTCAGAATCTCGGTAGGAGATGACTTGAGCTGATGCTGCCTGGCACATAGGGGTTTAGAAGATATTAGGAAGGAAGCCCCACAGCGTGCCCAAGTGCCATGCAGGCCCTGGAGACGGTCATTGGAGGGCGTCTGTGGATGGCGCAGTGGGGGATGGGAAGTCCCTAATCTGCTGGGGCTTTCCCAGCAAGCAGGGACTGAGGGGGATAGTCCCCAACACATGGGCCCCAGGGAGAAGGGCCTGTTTCATTGAGGTTTGGAGAGTGTTGAGGGTAAGCTAACCTGTCACCCCACGCCCCCGAGAATGGTTACTGATAGGGAGAGGCCTTTTCCTTGCAGGAGATGGCGTCTACCAGAAGGGGATGGACTTCATTTTGGAGAAGCTCAACCATGGGACTGGGTGCATATCTTCCCAGAAGGTCAGCAGGGCTGACTGGGTCGAGCCCCCCCAGTATGAGCGGGATGGGCTCCCAAGCCTCGCCTCTGTGCTCTCTCACCAGGGAAAGTGAACATGAGTTCCGAATTCCTGCGTTTCAAGTGGGGTAAGGGCTGCTGGTCTCTGGCCACAGCCATCCTCCCGGCCCAGAGATGGCCCTGTGGGCCCCTGGCTCCCGCCCCCTCGGGCTGGCTTGTATGGGGGTAGATGGGCGTGTTTGTAGCGCCAGGAAGGGGACAGGTGCTGAGACTAGGCCTGCCTCTCGCAGGGGCTTGCCCAAGGGAGCTGAATTGAACTGGAGGATGTCGGGGGTGGCAGTGGCCAGAGGCTGGCACAGAAGCTTGGCTCAGGGCCCAGCTTATGCTAACATTTCTACCTCCCCCCTGGGCAGGAATCGGGCGCCTGATTGCTGAGTGTCATCTCAACCCCATCATCCTGCCCCTGTGGCATGTCGGTGAGCCTGGGGACGGGGACAGAGAGATGGCATCTGGGGTGGGGGGCCTGGGACTCCCTCTGGTCCCAGGCTGCCCTGCTCCACCCCACGTCTGGCCTTCTGTCCACTGTGCTGCAGGAATGAATGACGTCCTTCCTAACAGTCCGCCCTACTTCCCCCGCTTTGGACAGGTGGGTGGGGACTGCTGACCTTCGGCTGTCTGCCTGTCTGCTGTCTGCTCCGTGTCTCCCACTCAGCACTATGGAGGCCAGCTGCAGGAGGAGCTGAGCATGAGGCTACAGCAGGGGACAGAGTGGAACATAGACAGGGACTTCCTGGCACCGAGACATTAAAATGAGAGCAGAGGAAGTCAGGCTGGGGCAGAGGTGGGCTGTGGGGTCAGGACAGGACAGGTCATCTACAGCACAGGACCCAGGACCAGGACCTTGTTTTAGAGGAAGAGTGGCCCCTGGGGAGTGTGTGGCACAGCAGGGCCGGGGCTTAGCTTCTGGCTCCCGGGTTGCTTGGGCTGGGGCTGTGGGCACTCCTACTGCTCCTCATCACTCTTGGCGGCCACCCCACAGAAAATCACTGTGCTGATCGGGAAGCCCTTCAGTGCCCTGCCTGTACTCGAGCGGCTCCGGGCGGAGAACAAGTCGGCTGTGAGTTTCCTCCTGGGTCCCCCGTAGCTGTCCCCGGACCCCCTGCTGCTGGCTTCCAGCAGGGTGCCTCCACCCTCTCCATCCCGTCACCCTCCCAGGGCACCCTCCCAGGGCACCTTGGCCAAGCTTCCCGAGGGGTGCAGGCCATCCCTGGTCCTTTCCCTCAGGTGGAGATGCGGAAAGCCCTGACGGACTTCATTCAAGAGGAATTCCAGCATCTGAAGACTCAGGCAGAGCAGCTCCACAACCACCTCCAGCCTGGGAGATAGGCCTTGCTTGCTGCCTTCTGGATTCTTGGCCCGCACAGAGCTGGGGCTGAGGGATGGACTGATGCTTTTAGCTCAAACGTGGCTTTTAGACAGATTTGTTCATAGACCCTCTCAAGTGCCCTCTCCGAGCTGGTAGGCATTCCAGCTCCTCCGTGCTTCCTCAGTTACACAAAGGACCTCAGCTGCTTCTCCCACTTGGCCAAGCAGGGAGGAAGAAGCTTAGGCAGGGCTCTCTTTCCTTCTTGCCTTCAGATGTTCTCTCCCAGGGGCTGGCTTCAGGAGGGAGCATAGAAGGCAGGTGAGCAACCAGTTGGCTAGGGGAGCAGGGGGCCCACCAGAGCTGTGGAGAGGGGACCCTAAGACTCCTCGGCCTGGCTCCTACCCACCGCCCTTGCCGAACCAGGAGCTGCTCACTACCTCCTCAGGGATGGCCGTTGGCCACGTCTTCCTTCTGCCTGAGCTTCCCCCCCACCACAGGCCCTTTCCTCAGGCAAGGTCTGGCCTCAGGTGGGCCGCAGGCGGGAAAAGCAGCCCTTGGCCAGAAGTCAAGCCCAGCCACGTGGAGCCTAGAGTGAGGGCCTGAGGTCTGGCTGCTTGCCCCCATGCTGGCGCCAACAACTTCTCCATCCTTTCTGCCTN | pathogenic | 342,284 |
Assess the variant on chromosome X, position 154420024, impacting TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | GATTTTAATATGGTATTTAAGTATCAAAGTGATTTGACACAAGTGACACAAGTGAGCAGTAGTAGCATTTGCAAAAGCTACAAATGATGAAGTCTTGCTCCAAAAGCATATTATTATTATTTTTTAAATTCCAGTTTCAAGCTCAATGGATAGGTTGCGTCAGTGGGTTTTAGTAGAGAAGGGGCCAGTACCTATGAAGACTCCCCTGTACTATTACACATGCTGCGTCCCAAGTAGGGAAACTCCAGTGGGTCATCACCCCCTCCCTCTAGCCCAAGTGGGCTGCTGGGTCAGGGCACTGTTTGGGTTGGGTTGAGATTCCTGGATCCCTAACTAGCACCTTCCAAAGAATCGGCCTTGCAGAGAACAAAGTTCATTGCCAAAGGTATTCCCAATGTCTGTCTCTCGCTCTGTGATAGGGCTTCTTTACTCCCCACTTTATAAGATGAGGATATCTGCTATACCCCATTCCTTCAACCTCTCCACCTCTTTCCTCTTTTGTCTGCCATGTGATTACTTTTCCATCACCAAGGTTGATGAGATCCTTACTGTGTACTTACTGTCTCCAAGCATCCCCAGGCTTCCAGCCAGCACGCAGCAGCCAACATTGGCTTCAGAAGGAAGGAGGTTTGCATTTCCTTCTCTTGGGTCCAGTGCCATGGTCTCAGGGTTATCTCCAATGTGGAAAGTTGCTAGACCAGGAGCAGTTTGACTCCACTGTTTTTCAGTCTAGCAAGTTTGAGTTTTTCCCAAGCTCTTGATGTGTGTTCAAATGAATGTTCTCCCTTTCCCAAGAGACCTCCCTATAAGGGAGGGTCTAGTTTCCCGGGGTGCCCTGAGAAGAAGGGGTCAGCAGGGGGGAGGAATGGTGGAGGCTGAGGCCTCAGGCAGGTGCCCTGTGAGGAGTGGCTGTGACAAGCGGCTGAGATCCCAGCAAAGGGTTGTTGCCCAGAATCTGGGGCCTAAGCGAGGTTGGAAATCACAAATGCACTTGGTTTCTCTAGCAGCTGGCACATAGTAGGATCAGCCCAGGAGTGGCACCTTCAAAGAGAAAGGAACGCATGAGGCTCCGAGAGCGGTCGGCTGGCAGCCAGGGCCTGGCTGGGGAGGGAGGGCAGGTGGTGCGCTGACCTGGGGATCTTTGAGAGTGTGCAGGAGTATGTGGCTGAAGCGGCCCAGCTGGTGAGCCACTGAAGATGGGGGTCATAGGTAGATGGAGGAATTGCCAGGTCAGAATCTCGGTAGGAGATGACTTGAGCTGATGCTGCCTGGCACATAGGGGTTTAGAAGATATTAGGAAGGAAGCCCCACAGCGTGCCCAAGTGCCATGCAGGCCCTGGAGACGGTCATTGGAGGGCGTCTGTGGATGGCGCAGTGGGGGATGGGAAGTCCCTAATCTGCTGGGGCTTTCCCAGCAAGCAGGGACTGAGGGGGATAGTCCCCAACACATGGGCCCCAGGGAGAAGGGCCTGTTTCATTGAGGTTTGGAGAGTGTTGAGGGTAAGCTAACCTGTCACCCCACGCCCCCGAGAATGGTTACTGATAGGGAGAGGCCTTTTCCTTGCAGGAGATGGCGTCTACCAGAAGGGGATGGACTTCATTTTGGAGAAGCTCAACCATGGGGACTGGGTGCATATCTTCCCAGAAGGTCAGCAGGGCTGACTGGGTCGAGCCCCCCCAGTATGAGCGGGATGGGCTCCCAAGCCTCGCCTCTGTGCTCTCTCACCAGGGAAAGTGAACATGAGTTCCGAATTCCTGCGTTTCAAGTGGGGTAAGGGCTGCTGGTCTCTGGCCACAGCCATCCTCCCGGCCCAGAGATGGCCCTGTGGGCCCCTGGCTCCCGCCCCCTCGGGCTGGCTTGTATGGGGGTAGATGGGCGTGTTTGTAGCGCCAGGAAGGGGACAGGTGCTGAGACTAGGCCTGCCTCTCGCAGGGGCTTGCCCAAGGGAGCTGAATTGAACTGGAGGATGTCGGGGGTGGCAGTGGCCAGAGGCTGGCACAGAAGCTTGGCTCAGGGCCCAGCTTATGCTAACATTTCTACCTCCCCCCTGGGCAGGAATCGGGCGCCTGATTGCTGAGTGTCATCTCAACCCCATCATCCTGCCCCTGTGGCATGTCGGTGAGCCTGGGGACGGGGACAGAGAGATGGCATCTGGGGTGGGGGGCCTGGGACTCCCTCTGGTCCCAGGCTGCCCTGCTCCACCCCACGTCTGGCCTTCTGTCCACTGTGCTGCAGGAATGAATGACGTCCTTCCTAACAGTCCGCCCTACTTCCCCCGCTTTGGACAGGTGGGTGGGGACTGCTGACCTTCGGCTGTCTGCCTGTCTGCTGTCTGCTCCGTGTCTCCCACTCAGCACTATGGAGGCCAGCTGCAGGAGGAGCTGAGCATGAGGCTACAGCAGGGGACAGAGTGGAACATAGACAGGGACTTCCTGGCACCGAGACATTAAAATGAGAGCAGAGGAAGTCAGGCTGGGGCAGAGGTGGGCTGTGGGGTCAGGACAGGACAGGTCATCTACAGCACAGGACCCAGGACCAGGACCTTGTTTTAGAGGAAGAGTGGCCCCTGGGGAGTGTGTGGCACAGCAGGGCCGGGGCTTAGCTTCTGGCTCCCGGGTTGCTTGGGCTGGGGCTGTGGGCACTCCTACTGCTCCTCATCACTCTTGGCGGCCACCCCACAGAAAATCACTGTGCTGATCGGGAAGCCCTTCAGTGCCCTGCCTGTACTCGAGCGGCTCCGGGCGGAGAACAAGTCGGCTGTGAGTTTCCTCCTGGGTCCCCCGTAGCTGTCCCCGGACCCCCTGCTGCTGGCTTCCAGCAGGGTGCCTCCACCCTCTCCATCCCGTCACCCTCCCAGGGCACCCTCCCAGGGCACCTTGGCCAAGCTTCCCGAGGGGTGCAGGCCATCCCTGGTCCTTTCCCTCAGGTGGAGATGCGGAAAGCCCTGACGGACTTCATTCAAGAGGAATTCCAGCATCTGAAGACTCAGGCAGAGCAGCTCCACAACCACCTCCAGCCTGGGAGATAGGCCTTGCTTGCTGCCTTCTGGATTCTTGGCCCGCACAGAGCTGGGGCTGAGGGATGGACTGATGCTTTTAGCTCAAACGTGGCTTTTAGACAGATTTGTTCATAGACCCTCTCAAGTGCCCTCTCCGAGCTGGTAGGCATTCCAGCTCCTCCGTGCTTCCTCAGTTACACAAAGGACCTCAGCTGCTTCTCCCACTTGGCCAAGCAGGGAGGAAGAAGCTTAGGCAGGGCTCTCTTTCCTTCTTGCCTTCAGATGTTCTCTCCCAGGGGCTGGCTTCAGGAGGGAGCATAGAAGGCAGGTGAGCAACCAGTTGGCTAGGGGAGCAGGGGGCCCACCAGAGCTGTGGAGAGGGGACCCTAAGACTCCTCGGCCTGGCTCCTACCCACCGCCCTTGCCGAACCAGGAGCTGCTCACTACCTCCTCAGGGATGGCCGTTGGCCACGTCTTCCTTCTGCCTGAGCTTCCCCCCCACCACAGGCCCTTTCCTCAGGCAAGGTCTGGCCTCAGGTGGGCCGCAGGCGGGAAAAGCAGCCCTTGGCCAGAAGTCAAGCCCAGCCACGTGGAGCCTAGAGTGAGGGCCTGAGGTCTGGCTGCTTGCCCCCATGCTGGCGCCAACAACTTCTCCATCCTTTCTGCCTCTCAACATCACTTGAATCCTAGGGCCTGGGTTTTCATGTTTTTGAAACAGAACCATAAAGCATATGTGTTGGCTTGTTGTAAAATGTCTCTGGCCTCTCTGTAGGGGTGAAAATGGGAAGTGACTGCTGGACAGAAAGGCTGAACCCTTAGTGCCCTGGGGACATGGAGCACACTTGAGCAGATGGGCATCAACCTCTTCTGCACCAGTCACTTAAGGCTTCAGTTATTGTCTGTAATCCCTGTAACAACATTGCAGAAATAGGGATTAATCTCATTTTGCCAAGGAGGTGGAGTGAGGCTAATGAACTTGCTTCAAAACCCAAAGCTAGCCAGGTAGATTGGGGCCACACTTCAGAGAGACCCAAGTGTGGAGAATCAATTGGATCCTACCTGGGCTGCATCATAGGTGGGAGAGGAGCTCTGAAGAG | GATTTTAATATGGTATTTAAGTATCAAAGTGATTTGACACAAGTGACACAAGTGAGCAGTAGTAGCATTTGCAAAAGCTACAAATGATGAAGTCTTGCTCCAAAAGCATATTATTATTATTTTTTAAATTCCAGTTTCAAGCTCAATGGATAGGTTGCGTCAGTGGGTTTTAGTAGAGAAGGGGCCAGTACCTATGAAGACTCCCCTGTACTATTACACATGCTGCGTCCCAAGTAGGGAAACTCCAGTGGGTCATCACCCCCTCCCTCTAGCCCAAGTGGGCTGCTGGGTCAGGGCACTGTTTGGGTTGGGTTGAGATTCCTGGATCCCTAACTAGCACCTTCCAAAGAATCGGCCTTGCAGAGAACAAAGTTCATTGCCAAAGGTATTCCCAATGTCTGTCTCTCGCTCTGTGATAGGGCTTCTTTACTCCCCACTTTATAAGATGAGGATATCTGCTATACCCCATTCCTTCAACCTCTCCACCTCTTTCCTCTTTTGTCTGCCATGTGATTACTTTTCCATCACCAAGGTTGATGAGATCCTTACTGTGTACTTACTGTCTCCAAGCATCCCCAGGCTTCCAGCCAGCACGCAGCAGCCAACATTGGCTTCAGAAGGAAGGAGGTTTGCATTTCCTTCTCTTGGGTCCAGTGCCATGGTCTCAGGGTTATCTCCAATGTGGAAAGTTGCTAGACCAGGAGCAGTTTGACTCCACTGTTTTTCAGTCTAGCAAGTTTGAGTTTTTCCCAAGCTCTTGATGTGTGTTCAAATGAATGTTCTCCCTTTCCCAAGAGACCTCCCTATAAGGGAGGGTCTAGTTTCCCGGGGTGCCCTGAGAAGAAGGGGTCAGCAGGGGGGAGGAATGGTGGAGGCTGAGGCCTCAGGCAGGTGCCCTGTGAGGAGTGGCTGTGACAAGCGGCTGAGATCCCAGCAAAGGGTTGTTGCCCAGAATCTGGGGCCTAAGCGAGGTTGGAAATCACAAATGCACTTGGTTTCTCTAGCAGCTGGCACATAGTAGGATCAGCCCAGGAGTGGCACCTTCAAAGAGAAAGGAACGCATGAGGCTCCGAGAGCGGTCGGCTGGCAGCCAGGGCCTGGCTGGGGAGGGAGGGCAGGTGGTGCGCTGACCTGGGGATCTTTGAGAGTGTGCAGGAGTATGTGGCTGAAGCGGCCCAGCTGGTGAGCCACTGAAGATGGGGGTCATAGGTAGATGGAGGAATTGCCAGGTCAGAATCTCGGTAGGAGATGACTTGAGCTGATGCTGCCTGGCACATAGGGGTTTAGAAGATATTAGGAAGGAAGCCCCACAGCGTGCCCAAGTGCCATGCAGGCCCTGGAGACGGTCATTGGAGGGCGTCTGTGGATGGCGCAGTGGGGGATGGGAAGTCCCTAATCTGCTGGGGCTTTCCCAGCAAGCAGGGACTGAGGGGGATAGTCCCCAACACATGGGCCCCAGGGAGAAGGGCCTGTTTCATTGAGGTTTGGAGAGTGTTGAGGGTAAGCTAACCTGTCACCCCACGCCCCCGAGAATGGTTACTGATAGGGAGAGGCCTTTTCCTTGCAGGAGATGGCGTCTACCAGAAGGGGATGGACTTCATTTTGGAGAAGCTCAACCATGGGGACTGGGTGCATATCTTCCCAGAAGGTCAGCAGGGCTGACTGGGTCGAGCCCCCCCAGTATGAGCGGGATGGGCTCCCAAGCCTCGCCTCTGTGCTCTCTCACCAGGGAAAGTGAACATGAGTTCCGAATTCCTGCGTTTCAAGTGGGGTAAGGGCTGCTGGTCTCTGGCCACAGCCATCCTCCCGGCCCAGAGATGGCCCTGTGGGCCCCTGGCTCCCGCCCCCTCGGGCTGGCTTGTATGGGGGTAGATGGGCGTGTTTGTAGCGCCAGGAAGGGGACAGGTGCTGAGACTAGGCCTGCCTCTCGCAGGGGCTTGCCCAAGGGAGCTGAATTGAACTGGAGGATGTCGGGGGTGGCAGTGGCCAGAGGCTGGCACAGAAGCTTGGCTCAGGGCCCAGCTTATGCTAACATTTCTACCTCCCCCCGGGCAGGAATCGGGCGCCTGATTGCTGAGTGTCATCTCAACCCCATCATCCTGCCCCTGTGGCATGTCGGTGAGCCTGGGGACGGGGACAGAGAGATGGCATCTGGGGTGGGGGGCCTGGGACTCCCTCTGGTCCCAGGCTGCCCTGCTCCACCCCACGTCTGGCCTTCTGTCCACTGTGCTGCAGGAATGAATGACGTCCTTCCTAACAGTCCGCCCTACTTCCCCCGCTTTGGACAGGTGGGTGGGGACTGCTGACCTTCGGCTGTCTGCCTGTCTGCTGTCTGCTCCGTGTCTCCCACTCAGCACTATGGAGGCCAGCTGCAGGAGGAGCTGAGCATGAGGCTACAGCAGGGGACAGAGTGGAACATAGACAGGGACTTCCTGGCACCGAGACATTAAAATGAGAGCAGAGGAAGTCAGGCTGGGGCAGAGGTGGGCTGTGGGGTCAGGACAGGACAGGTCATCTACAGCACAGGACCCAGGACCAGGACCTTGTTTTAGAGGAAGAGTGGCCCCTGGGGAGTGTGTGGCACAGCAGGGCCGGGGCTTAGCTTCTGGCTCCCGGGTTGCTTGGGCTGGGGCTGTGGGCACTCCTACTGCTCCTCATCACTCTTGGCGGCCACCCCACAGAAAATCACTGTGCTGATCGGGAAGCCCTTCAGTGCCCTGCCTGTACTCGAGCGGCTCCGGGCGGAGAACAAGTCGGCTGTGAGTTTCCTCCTGGGTCCCCCGTAGCTGTCCCCGGACCCCCTGCTGCTGGCTTCCAGCAGGGTGCCTCCACCCTCTCCATCCCGTCACCCTCCCAGGGCACCCTCCCAGGGCACCTTGGCCAAGCTTCCCGAGGGGTGCAGGCCATCCCTGGTCCTTTCCCTCAGGTGGAGATGCGGAAAGCCCTGACGGACTTCATTCAAGAGGAATTCCAGCATCTGAAGACTCAGGCAGAGCAGCTCCACAACCACCTCCAGCCTGGGAGATAGGCCTTGCTTGCTGCCTTCTGGATTCTTGGCCCGCACAGAGCTGGGGCTGAGGGATGGACTGATGCTTTTAGCTCAAACGTGGCTTTTAGACAGATTTGTTCATAGACCCTCTCAAGTGCCCTCTCCGAGCTGGTAGGCATTCCAGCTCCTCCGTGCTTCCTCAGTTACACAAAGGACCTCAGCTGCTTCTCCCACTTGGCCAAGCAGGGAGGAAGAAGCTTAGGCAGGGCTCTCTTTCCTTCTTGCCTTCAGATGTTCTCTCCCAGGGGCTGGCTTCAGGAGGGAGCATAGAAGGCAGGTGAGCAACCAGTTGGCTAGGGGAGCAGGGGGCCCACCAGAGCTGTGGAGAGGGGACCCTAAGACTCCTCGGCCTGGCTCCTACCCACCGCCCTTGCCGAACCAGGAGCTGCTCACTACCTCCTCAGGGATGGCCGTTGGCCACGTCTTCCTTCTGCCTGAGCTTCCCCCCCACCACAGGCCCTTTCCTCAGGCAAGGTCTGGCCTCAGGTGGGCCGCAGGCGGGAAAAGCAGCCCTTGGCCAGAAGTCAAGCCCAGCCACGTGGAGCCTAGAGTGAGGGCCTGAGGTCTGGCTGCTTGCCCCCATGCTGGCGCCAACAACTTCTCCATCCTTTCTGCCTCTCAACATCACTTGAATCCTAGGGCCTGGGTTTTCATGTTTTTGAAACAGAACCATAAAGCATATGTGTTGGCTTGTTGTAAAATGTCTCTGGCCTCTCTGTAGGGGTGAAAATGGGAAGTGACTGCTGGACAGAAAGGCTGAACCCTTAGTGCCCTGGGGACATGGAGCACACTTGAGCAGATGGGCATCAACCTCTTCTGCACCAGTCACTTAAGGCTTCAGTTATTGTCTGTAATCCCTGTAACAACATTGCAGAAATAGGGATTAATCTCATTTTGCCAAGGAGGTGGAGTGAGGCTAATGAACTTGCTTCAAAACCCAAAGCTAGCCAGGTAGATTGGGGCCACACTTCAGAGAGACCCAAGTGTGGAGAATCAATTGGATCCTACCTGGGCTGCATCATAGGTGGGAGAGGAGCTCTGAAGAGN | benign | 342,292 |
Is chromosome X, position 154420248, gene TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['3-Methylglutaconic_aciduria_type_2', 'Cardiomyopathy'] | GCGTCCCAAGTAGGGAAACTCCAGTGGGTCATCACCCCCTCCCTCTAGCCCAAGTGGGCTGCTGGGTCAGGGCACTGTTTGGGTTGGGTTGAGATTCCTGGATCCCTAACTAGCACCTTCCAAAGAATCGGCCTTGCAGAGAACAAAGTTCATTGCCAAAGGTATTCCCAATGTCTGTCTCTCGCTCTGTGATAGGGCTTCTTTACTCCCCACTTTATAAGATGAGGATATCTGCTATACCCCATTCCTTCAACCTCTCCACCTCTTTCCTCTTTTGTCTGCCATGTGATTACTTTTCCATCACCAAGGTTGATGAGATCCTTACTGTGTACTTACTGTCTCCAAGCATCCCCAGGCTTCCAGCCAGCACGCAGCAGCCAACATTGGCTTCAGAAGGAAGGAGGTTTGCATTTCCTTCTCTTGGGTCCAGTGCCATGGTCTCAGGGTTATCTCCAATGTGGAAAGTTGCTAGACCAGGAGCAGTTTGACTCCACTGTTTTTCAGTCTAGCAAGTTTGAGTTTTTCCCAAGCTCTTGATGTGTGTTCAAATGAATGTTCTCCCTTTCCCAAGAGACCTCCCTATAAGGGAGGGTCTAGTTTCCCGGGGTGCCCTGAGAAGAAGGGGTCAGCAGGGGGGAGGAATGGTGGAGGCTGAGGCCTCAGGCAGGTGCCCTGTGAGGAGTGGCTGTGACAAGCGGCTGAGATCCCAGCAAAGGGTTGTTGCCCAGAATCTGGGGCCTAAGCGAGGTTGGAAATCACAAATGCACTTGGTTTCTCTAGCAGCTGGCACATAGTAGGATCAGCCCAGGAGTGGCACCTTCAAAGAGAAAGGAACGCATGAGGCTCCGAGAGCGGTCGGCTGGCAGCCAGGGCCTGGCTGGGGAGGGAGGGCAGGTGGTGCGCTGACCTGGGGATCTTTGAGAGTGTGCAGGAGTATGTGGCTGAAGCGGCCCAGCTGGTGAGCCACTGAAGATGGGGGTCATAGGTAGATGGAGGAATTGCCAGGTCAGAATCTCGGTAGGAGATGACTTGAGCTGATGCTGCCTGGCACATAGGGGTTTAGAAGATATTAGGAAGGAAGCCCCACAGCGTGCCCAAGTGCCATGCAGGCCCTGGAGACGGTCATTGGAGGGCGTCTGTGGATGGCGCAGTGGGGGATGGGAAGTCCCTAATCTGCTGGGGCTTTCCCAGCAAGCAGGGACTGAGGGGGATAGTCCCCAACACATGGGCCCCAGGGAGAAGGGCCTGTTTCATTGAGGTTTGGAGAGTGTTGAGGGTAAGCTAACCTGTCACCCCACGCCCCCGAGAATGGTTACTGATAGGGAGAGGCCTTTTCCTTGCAGGAGATGGCGTCTACCAGAAGGGGATGGACTTCATTTTGGAGAAGCTCAACCATGGGGACTGGGTGCATATCTTCCCAGAAGGTCAGCAGGGCTGACTGGGTCGAGCCCCCCCAGTATGAGCGGGATGGGCTCCCAAGCCTCGCCTCTGTGCTCTCTCACCAGGGAAAGTGAACATGAGTTCCGAATTCCTGCGTTTCAAGTGGGGTAAGGGCTGCTGGTCTCTGGCCACAGCCATCCTCCCGGCCCAGAGATGGCCCTGTGGGCCCCTGGCTCCCGCCCCCTCGGGCTGGCTTGTATGGGGGTAGATGGGCGTGTTTGTAGCGCCAGGAAGGGGACAGGTGCTGAGACTAGGCCTGCCTCTCGCAGGGGCTTGCCCAAGGGAGCTGAATTGAACTGGAGGATGTCGGGGGTGGCAGTGGCCAGAGGCTGGCACAGAAGCTTGGCTCAGGGCCCAGCTTATGCTAACATTTCTACCTCCCCCCTGGGCAGGAATCGGGCGCCTGATTGCTGAGTGTCATCTCAACCCCATCATCCTGCCCCTGTGGCATGTCGGTGAGCCTGGGGACGGGGACAGAGAGATGGCATCTGGGGTGGGGGGCCTGGGACTCCCTCTGGTCCCAGGCTGCCCTGCTCCACCCCACGTCTGGCCTTCTGTCCACTGTGCTGCAGGAATGAATGACGTCCTTCCTAACAGTCCGCCCTACTTCCCCCGCTTTGGACAGGTGGGTGGGGACTGCTGACCTTCGGCTGTCTGCCTGTCTGCTGTCTGCTCCGTGTCTCCCACTCAGCACTATGGAGGCCAGCTGCAGGAGGAGCTGAGCATGAGGCTACAGCAGGGGACAGAGTGGAACATAGACAGGGACTTCCTGGCACCGAGACATTAAAATGAGAGCAGAGGAAGTCAGGCTGGGGCAGAGGTGGGCTGTGGGGTCAGGACAGGACAGGTCATCTACAGCACAGGACCCAGGACCAGGACCTTGTTTTAGAGGAAGAGTGGCCCCTGGGGAGTGTGTGGCACAGCAGGGCCGGGGCTTAGCTTCTGGCTCCCGGGTTGCTTGGGCTGGGGCTGTGGGCACTCCTACTGCTCCTCATCACTCTTGGCGGCCACCCCACAGAAAATCACTGTGCTGATCGGGAAGCCCTTCAGTGCCCTGCCTGTACTCGAGCGGCTCCGGGCGGAGAACAAGTCGGCTGTGAGTTTCCTCCTGGGTCCCCCGTAGCTGTCCCCGGACCCCCTGCTGCTGGCTTCCAGCAGGGTGCCTCCACCCTCTCCATCCCGTCACCCTCCCAGGGCACCCTCCCAGGGCACCTTGGCCAAGCTTCCCGAGGGGTGCAGGCCATCCCTGGTCCTTTCCCTCAGGTGGAGATGCGGAAAGCCCTGACGGACTTCATTCAAGAGGAATTCCAGCATCTGAAGACTCAGGCAGAGCAGCTCCACAACCACCTCCAGCCTGGGAGATAGGCCTTGCTTGCTGCCTTCTGGATTCTTGGCCCGCACAGAGCTGGGGCTGAGGGATGGACTGATGCTTTTAGCTCAAACGTGGCTTTTAGACAGATTTGTTCATAGACCCTCTCAAGTGCCCTCTCCGAGCTGGTAGGCATTCCAGCTCCTCCGTGCTTCCTCAGTTACACAAAGGACCTCAGCTGCTTCTCCCACTTGGCCAAGCAGGGAGGAAGAAGCTTAGGCAGGGCTCTCTTTCCTTCTTGCCTTCAGATGTTCTCTCCCAGGGGCTGGCTTCAGGAGGGAGCATAGAAGGCAGGTGAGCAACCAGTTGGCTAGGGGAGCAGGGGGCCCACCAGAGCTGTGGAGAGGGGACCCTAAGACTCCTCGGCCTGGCTCCTACCCACCGCCCTTGCCGAACCAGGAGCTGCTCACTACCTCCTCAGGGATGGCCGTTGGCCACGTCTTCCTTCTGCCTGAGCTTCCCCCCCACCACAGGCCCTTTCCTCAGGCAAGGTCTGGCCTCAGGTGGGCCGCAGGCGGGAAAAGCAGCCCTTGGCCAGAAGTCAAGCCCAGCCACGTGGAGCCTAGAGTGAGGGCCTGAGGTCTGGCTGCTTGCCCCCATGCTGGCGCCAACAACTTCTCCATCCTTTCTGCCTCTCAACATCACTTGAATCCTAGGGCCTGGGTTTTCATGTTTTTGAAACAGAACCATAAAGCATATGTGTTGGCTTGTTGTAAAATGTCTCTGGCCTCTCTGTAGGGGTGAAAATGGGAAGTGACTGCTGGACAGAAAGGCTGAACCCTTAGTGCCCTGGGGACATGGAGCACACTTGAGCAGATGGGCATCAACCTCTTCTGCACCAGTCACTTAAGGCTTCAGTTATTGTCTGTAATCCCTGTAACAACATTGCAGAAATAGGGATTAATCTCATTTTGCCAAGGAGGTGGAGTGAGGCTAATGAACTTGCTTCAAAACCCAAAGCTAGCCAGGTAGATTGGGGCCACACTTCAGAGAGACCCAAGTGTGGAGAATCAATTGGATCCTACCTGGGCTGCATCATAGGTGGGAGAGGAGCTCTGAAGAGCCCGGCAAGTAGCCAGCCATGAGCAGTGCACGCTGTGATCAGGAGGTAGGATTGGGGTTGCCCAGATGGAGCTGGGGGTCCTGGGTGGGAGCAAAGGCAAATCCAGGGTGGTGGCGTAGACACAGTATTAAAAATACTATAACAGAAACGTGGAAAGAAAGAAAATATAGAACCACCAAAGATGAGCCAGCAACAAGAGAAGATTCAGACAACCAGGTCTTTCA | GCGTCCCAAGTAGGGAAACTCCAGTGGGTCATCACCCCCTCCCTCTAGCCCAAGTGGGCTGCTGGGTCAGGGCACTGTTTGGGTTGGGTTGAGATTCCTGGATCCCTAACTAGCACCTTCCAAAGAATCGGCCTTGCAGAGAACAAAGTTCATTGCCAAAGGTATTCCCAATGTCTGTCTCTCGCTCTGTGATAGGGCTTCTTTACTCCCCACTTTATAAGATGAGGATATCTGCTATACCCCATTCCTTCAACCTCTCCACCTCTTTCCTCTTTTGTCTGCCATGTGATTACTTTTCCATCACCAAGGTTGATGAGATCCTTACTGTGTACTTACTGTCTCCAAGCATCCCCAGGCTTCCAGCCAGCACGCAGCAGCCAACATTGGCTTCAGAAGGAAGGAGGTTTGCATTTCCTTCTCTTGGGTCCAGTGCCATGGTCTCAGGGTTATCTCCAATGTGGAAAGTTGCTAGACCAGGAGCAGTTTGACTCCACTGTTTTTCAGTCTAGCAAGTTTGAGTTTTTCCCAAGCTCTTGATGTGTGTTCAAATGAATGTTCTCCCTTTCCCAAGAGACCTCCCTATAAGGGAGGGTCTAGTTTCCCGGGGTGCCCTGAGAAGAAGGGGTCAGCAGGGGGGAGGAATGGTGGAGGCTGAGGCCTCAGGCAGGTGCCCTGTGAGGAGTGGCTGTGACAAGCGGCTGAGATCCCAGCAAAGGGTTGTTGCCCAGAATCTGGGGCCTAAGCGAGGTTGGAAATCACAAATGCACTTGGTTTCTCTAGCAGCTGGCACATAGTAGGATCAGCCCAGGAGTGGCACCTTCAAAGAGAAAGGAACGCATGAGGCTCCGAGAGCGGTCGGCTGGCAGCCAGGGCCTGGCTGGGGAGGGAGGGCAGGTGGTGCGCTGACCTGGGGATCTTTGAGAGTGTGCAGGAGTATGTGGCTGAAGCGGCCCAGCTGGTGAGCCACTGAAGATGGGGGTCATAGGTAGATGGAGGAATTGCCAGGTCAGAATCTCGGTAGGAGATGACTTGAGCTGATGCTGCCTGGCACATAGGGGTTTAGAAGATATTAGGAAGGAAGCCCCACAGCGTGCCCAAGTGCCATGCAGGCCCTGGAGACGGTCATTGGAGGGCGTCTGTGGATGGCGCAGTGGGGGATGGGAAGTCCCTAATCTGCTGGGGCTTTCCCAGCAAGCAGGGACTGAGGGGGATAGTCCCCAACACATGGGCCCCAGGGAGAAGGGCCTGTTTCATTGAGGTTTGGAGAGTGTTGAGGGTAAGCTAACCTGTCACCCCACGCCCCCGAGAATGGTTACTGATAGGGAGAGGCCTTTTCCTTGCAGGAGATGGCGTCTACCAGAAGGGGATGGACTTCATTTTGGAGAAGCTCAACCATGGGGACTGGGTGCATATCTTCCCAGAAGGTCAGCAGGGCTGACTGGGTCGAGCCCCCCCAGTATGAGCGGGATGGGCTCCCAAGCCTCGCCTCTGTGCTCTCTCACCAGGGAAAGTGAACATGAGTTCCGAATTCCTGCGTTTCAAGTGGGGTAAGGGCTGCTGGTCTCTGGCCACAGCCATCCTCCCGGCCCAGAGATGGCCCTGTGGGCCCCTGGCTCCCGCCCCCTCGGGCTGGCTTGTATGGGGGTAGATGGGCGTGTTTGTAGCGCCAGGAAGGGGACAGGTGCTGAGACTAGGCCTGCCTCTCGCAGGGGCTTGCCCAAGGGAGCTGAATTGAACTGGAGGATGTCGGGGGTGGCAGTGGCCAGAGGCTGGCACAGAAGCTTGGCTCAGGGCCCAGCTTATGCTAACATTTCTACCTCCCCCCTGGGCAGGAATCGGGCGCCTGATTGCTGAGTGTCATCTCAACCCCATCATCCTGCCCCTGTGGCATGTCGGTGAGCCTGGGGACGGGGACAGAGAGATGGCATCTGGGGTGGGGGGCCTGGGACTCCCTCTGGTCCCAGGCTGCCCTGCTCCACCCCACGTCTGGCCTTCTGTCCACTGTGCTGCAGGAATGAATGACGTCCTTCCTAACAGTCCGCCCTACTTCCCCGCTTTGGACAGGTGGGTGGGGACTGCTGACCTTCGGCTGTCTGCCTGTCTGCTGTCTGCTCCGTGTCTCCCACTCAGCACTATGGAGGCCAGCTGCAGGAGGAGCTGAGCATGAGGCTACAGCAGGGGACAGAGTGGAACATAGACAGGGACTTCCTGGCACCGAGACATTAAAATGAGAGCAGAGGAAGTCAGGCTGGGGCAGAGGTGGGCTGTGGGGTCAGGACAGGACAGGTCATCTACAGCACAGGACCCAGGACCAGGACCTTGTTTTAGAGGAAGAGTGGCCCCTGGGGAGTGTGTGGCACAGCAGGGCCGGGGCTTAGCTTCTGGCTCCCGGGTTGCTTGGGCTGGGGCTGTGGGCACTCCTACTGCTCCTCATCACTCTTGGCGGCCACCCCACAGAAAATCACTGTGCTGATCGGGAAGCCCTTCAGTGCCCTGCCTGTACTCGAGCGGCTCCGGGCGGAGAACAAGTCGGCTGTGAGTTTCCTCCTGGGTCCCCCGTAGCTGTCCCCGGACCCCCTGCTGCTGGCTTCCAGCAGGGTGCCTCCACCCTCTCCATCCCGTCACCCTCCCAGGGCACCCTCCCAGGGCACCTTGGCCAAGCTTCCCGAGGGGTGCAGGCCATCCCTGGTCCTTTCCCTCAGGTGGAGATGCGGAAAGCCCTGACGGACTTCATTCAAGAGGAATTCCAGCATCTGAAGACTCAGGCAGAGCAGCTCCACAACCACCTCCAGCCTGGGAGATAGGCCTTGCTTGCTGCCTTCTGGATTCTTGGCCCGCACAGAGCTGGGGCTGAGGGATGGACTGATGCTTTTAGCTCAAACGTGGCTTTTAGACAGATTTGTTCATAGACCCTCTCAAGTGCCCTCTCCGAGCTGGTAGGCATTCCAGCTCCTCCGTGCTTCCTCAGTTACACAAAGGACCTCAGCTGCTTCTCCCACTTGGCCAAGCAGGGAGGAAGAAGCTTAGGCAGGGCTCTCTTTCCTTCTTGCCTTCAGATGTTCTCTCCCAGGGGCTGGCTTCAGGAGGGAGCATAGAAGGCAGGTGAGCAACCAGTTGGCTAGGGGAGCAGGGGGCCCACCAGAGCTGTGGAGAGGGGACCCTAAGACTCCTCGGCCTGGCTCCTACCCACCGCCCTTGCCGAACCAGGAGCTGCTCACTACCTCCTCAGGGATGGCCGTTGGCCACGTCTTCCTTCTGCCTGAGCTTCCCCCCCACCACAGGCCCTTTCCTCAGGCAAGGTCTGGCCTCAGGTGGGCCGCAGGCGGGAAAAGCAGCCCTTGGCCAGAAGTCAAGCCCAGCCACGTGGAGCCTAGAGTGAGGGCCTGAGGTCTGGCTGCTTGCCCCCATGCTGGCGCCAACAACTTCTCCATCCTTTCTGCCTCTCAACATCACTTGAATCCTAGGGCCTGGGTTTTCATGTTTTTGAAACAGAACCATAAAGCATATGTGTTGGCTTGTTGTAAAATGTCTCTGGCCTCTCTGTAGGGGTGAAAATGGGAAGTGACTGCTGGACAGAAAGGCTGAACCCTTAGTGCCCTGGGGACATGGAGCACACTTGAGCAGATGGGCATCAACCTCTTCTGCACCAGTCACTTAAGGCTTCAGTTATTGTCTGTAATCCCTGTAACAACATTGCAGAAATAGGGATTAATCTCATTTTGCCAAGGAGGTGGAGTGAGGCTAATGAACTTGCTTCAAAACCCAAAGCTAGCCAGGTAGATTGGGGCCACACTTCAGAGAGACCCAAGTGTGGAGAATCAATTGGATCCTACCTGGGCTGCATCATAGGTGGGAGAGGAGCTCTGAAGAGCCCGGCAAGTAGCCAGCCATGAGCAGTGCACGCTGTGATCAGGAGGTAGGATTGGGGTTGCCCAGATGGAGCTGGGGGTCCTGGGTGGGAGCAAAGGCAAATCCAGGGTGGTGGCGTAGACACAGTATTAAAAATACTATAACAGAAACGTGGAAAGAAAGAAAATATAGAACCACCAAAGATGAGCCAGCAACAAGAGAAGATTCAGACAACCAGGTCTTTCAN | pathogenic | 342,306 |
Is chromosome X, position 154420822, gene TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CCTCCCTATAAGGGAGGGTCTAGTTTCCCGGGGTGCCCTGAGAAGAAGGGGTCAGCAGGGGGGAGGAATGGTGGAGGCTGAGGCCTCAGGCAGGTGCCCTGTGAGGAGTGGCTGTGACAAGCGGCTGAGATCCCAGCAAAGGGTTGTTGCCCAGAATCTGGGGCCTAAGCGAGGTTGGAAATCACAAATGCACTTGGTTTCTCTAGCAGCTGGCACATAGTAGGATCAGCCCAGGAGTGGCACCTTCAAAGAGAAAGGAACGCATGAGGCTCCGAGAGCGGTCGGCTGGCAGCCAGGGCCTGGCTGGGGAGGGAGGGCAGGTGGTGCGCTGACCTGGGGATCTTTGAGAGTGTGCAGGAGTATGTGGCTGAAGCGGCCCAGCTGGTGAGCCACTGAAGATGGGGGTCATAGGTAGATGGAGGAATTGCCAGGTCAGAATCTCGGTAGGAGATGACTTGAGCTGATGCTGCCTGGCACATAGGGGTTTAGAAGATATTAGGAAGGAAGCCCCACAGCGTGCCCAAGTGCCATGCAGGCCCTGGAGACGGTCATTGGAGGGCGTCTGTGGATGGCGCAGTGGGGGATGGGAAGTCCCTAATCTGCTGGGGCTTTCCCAGCAAGCAGGGACTGAGGGGGATAGTCCCCAACACATGGGCCCCAGGGAGAAGGGCCTGTTTCATTGAGGTTTGGAGAGTGTTGAGGGTAAGCTAACCTGTCACCCCACGCCCCCGAGAATGGTTACTGATAGGGAGAGGCCTTTTCCTTGCAGGAGATGGCGTCTACCAGAAGGGGATGGACTTCATTTTGGAGAAGCTCAACCATGGGGACTGGGTGCATATCTTCCCAGAAGGTCAGCAGGGCTGACTGGGTCGAGCCCCCCCAGTATGAGCGGGATGGGCTCCCAAGCCTCGCCTCTGTGCTCTCTCACCAGGGAAAGTGAACATGAGTTCCGAATTCCTGCGTTTCAAGTGGGGTAAGGGCTGCTGGTCTCTGGCCACAGCCATCCTCCCGGCCCAGAGATGGCCCTGTGGGCCCCTGGCTCCCGCCCCCTCGGGCTGGCTTGTATGGGGGTAGATGGGCGTGTTTGTAGCGCCAGGAAGGGGACAGGTGCTGAGACTAGGCCTGCCTCTCGCAGGGGCTTGCCCAAGGGAGCTGAATTGAACTGGAGGATGTCGGGGGTGGCAGTGGCCAGAGGCTGGCACAGAAGCTTGGCTCAGGGCCCAGCTTATGCTAACATTTCTACCTCCCCCCTGGGCAGGAATCGGGCGCCTGATTGCTGAGTGTCATCTCAACCCCATCATCCTGCCCCTGTGGCATGTCGGTGAGCCTGGGGACGGGGACAGAGAGATGGCATCTGGGGTGGGGGGCCTGGGACTCCCTCTGGTCCCAGGCTGCCCTGCTCCACCCCACGTCTGGCCTTCTGTCCACTGTGCTGCAGGAATGAATGACGTCCTTCCTAACAGTCCGCCCTACTTCCCCCGCTTTGGACAGGTGGGTGGGGACTGCTGACCTTCGGCTGTCTGCCTGTCTGCTGTCTGCTCCGTGTCTCCCACTCAGCACTATGGAGGCCAGCTGCAGGAGGAGCTGAGCATGAGGCTACAGCAGGGGACAGAGTGGAACATAGACAGGGACTTCCTGGCACCGAGACATTAAAATGAGAGCAGAGGAAGTCAGGCTGGGGCAGAGGTGGGCTGTGGGGTCAGGACAGGACAGGTCATCTACAGCACAGGACCCAGGACCAGGACCTTGTTTTAGAGGAAGAGTGGCCCCTGGGGAGTGTGTGGCACAGCAGGGCCGGGGCTTAGCTTCTGGCTCCCGGGTTGCTTGGGCTGGGGCTGTGGGCACTCCTACTGCTCCTCATCACTCTTGGCGGCCACCCCACAGAAAATCACTGTGCTGATCGGGAAGCCCTTCAGTGCCCTGCCTGTACTCGAGCGGCTCCGGGCGGAGAACAAGTCGGCTGTGAGTTTCCTCCTGGGTCCCCCGTAGCTGTCCCCGGACCCCCTGCTGCTGGCTTCCAGCAGGGTGCCTCCACCCTCTCCATCCCGTCACCCTCCCAGGGCACCCTCCCAGGGCACCTTGGCCAAGCTTCCCGAGGGGTGCAGGCCATCCCTGGTCCTTTCCCTCAGGTGGAGATGCGGAAAGCCCTGACGGACTTCATTCAAGAGGAATTCCAGCATCTGAAGACTCAGGCAGAGCAGCTCCACAACCACCTCCAGCCTGGGAGATAGGCCTTGCTTGCTGCCTTCTGGATTCTTGGCCCGCACAGAGCTGGGGCTGAGGGATGGACTGATGCTTTTAGCTCAAACGTGGCTTTTAGACAGATTTGTTCATAGACCCTCTCAAGTGCCCTCTCCGAGCTGGTAGGCATTCCAGCTCCTCCGTGCTTCCTCAGTTACACAAAGGACCTCAGCTGCTTCTCCCACTTGGCCAAGCAGGGAGGAAGAAGCTTAGGCAGGGCTCTCTTTCCTTCTTGCCTTCAGATGTTCTCTCCCAGGGGCTGGCTTCAGGAGGGAGCATAGAAGGCAGGTGAGCAACCAGTTGGCTAGGGGAGCAGGGGGCCCACCAGAGCTGTGGAGAGGGGACCCTAAGACTCCTCGGCCTGGCTCCTACCCACCGCCCTTGCCGAACCAGGAGCTGCTCACTACCTCCTCAGGGATGGCCGTTGGCCACGTCTTCCTTCTGCCTGAGCTTCCCCCCCACCACAGGCCCTTTCCTCAGGCAAGGTCTGGCCTCAGGTGGGCCGCAGGCGGGAAAAGCAGCCCTTGGCCAGAAGTCAAGCCCAGCCACGTGGAGCCTAGAGTGAGGGCCTGAGGTCTGGCTGCTTGCCCCCATGCTGGCGCCAACAACTTCTCCATCCTTTCTGCCTCTCAACATCACTTGAATCCTAGGGCCTGGGTTTTCATGTTTTTGAAACAGAACCATAAAGCATATGTGTTGGCTTGTTGTAAAATGTCTCTGGCCTCTCTGTAGGGGTGAAAATGGGAAGTGACTGCTGGACAGAAAGGCTGAACCCTTAGTGCCCTGGGGACATGGAGCACACTTGAGCAGATGGGCATCAACCTCTTCTGCACCAGTCACTTAAGGCTTCAGTTATTGTCTGTAATCCCTGTAACAACATTGCAGAAATAGGGATTAATCTCATTTTGCCAAGGAGGTGGAGTGAGGCTAATGAACTTGCTTCAAAACCCAAAGCTAGCCAGGTAGATTGGGGCCACACTTCAGAGAGACCCAAGTGTGGAGAATCAATTGGATCCTACCTGGGCTGCATCATAGGTGGGAGAGGAGCTCTGAAGAGCCCGGCAAGTAGCCAGCCATGAGCAGTGCACGCTGTGATCAGGAGGTAGGATTGGGGTTGCCCAGATGGAGCTGGGGGTCCTGGGTGGGAGCAAAGGCAAATCCAGGGTGGTGGCGTAGACACAGTATTAAAAATACTATAACAGAAACGTGGAAAGAAAGAAAATATAGAACCACCAAAGATGAGCCAGCAACAAGAGAAGATTCAGACAACCAGGTCTTTCAGCAGTGTTGGTGCCTAATTATTTCAAAATAAAAGGTTTTTAAAAAAATGACCAAAAAGGGAAAAAAATTACCTGGGAAAAAACAAACACTTGTAATTAAATATAGATAGAAGCAGCTGGGCACCATGGCTCACGCCTGTAATCCCAACACTTTAGGAAGCCAAGGTGGGCGGATCATTTGAAGTCAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGGCCAGTCGCAGTGGCTCACACCTGTAATCCCAACACTTTAGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTGAAAATACAAAATTAGCAGGGCATGGTAGCGCATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGAAACAGCAGCGAAACTCCGTCTCAAAAAAAGAAAAAAAAAAGGCTGGGCCTGGTGGCTCACACCTG | CCTCCCTATAAGGGAGGGTCTAGTTTCCCGGGGTGCCCTGAGAAGAAGGGGTCAGCAGGGGGGAGGAATGGTGGAGGCTGAGGCCTCAGGCAGGTGCCCTGTGAGGAGTGGCTGTGACAAGCGGCTGAGATCCCAGCAAAGGGTTGTTGCCCAGAATCTGGGGCCTAAGCGAGGTTGGAAATCACAAATGCACTTGGTTTCTCTAGCAGCTGGCACATAGTAGGATCAGCCCAGGAGTGGCACCTTCAAAGAGAAAGGAACGCATGAGGCTCCGAGAGCGGTCGGCTGGCAGCCAGGGCCTGGCTGGGGAGGGAGGGCAGGTGGTGCGCTGACCTGGGGATCTTTGAGAGTGTGCAGGAGTATGTGGCTGAAGCGGCCCAGCTGGTGAGCCACTGAAGATGGGGGTCATAGGTAGATGGAGGAATTGCCAGGTCAGAATCTCGGTAGGAGATGACTTGAGCTGATGCTGCCTGGCACATAGGGGTTTAGAAGATATTAGGAAGGAAGCCCCACAGCGTGCCCAAGTGCCATGCAGGCCCTGGAGACGGTCATTGGAGGGCGTCTGTGGATGGCGCAGTGGGGGATGGGAAGTCCCTAATCTGCTGGGGCTTTCCCAGCAAGCAGGGACTGAGGGGGATAGTCCCCAACACATGGGCCCCAGGGAGAAGGGCCTGTTTCATTGAGGTTTGGAGAGTGTTGAGGGTAAGCTAACCTGTCACCCCACGCCCCCGAGAATGGTTACTGATAGGGAGAGGCCTTTTCCTTGCAGGAGATGGCGTCTACCAGAAGGGGATGGACTTCATTTTGGAGAAGCTCAACCATGGGGACTGGGTGCATATCTTCCCAGAAGGTCAGCAGGGCTGACTGGGTCGAGCCCCCCCAGTATGAGCGGGATGGGCTCCCAAGCCTCGCCTCTGTGCTCTCTCACCAGGGAAAGTGAACATGAGTTCCGAATTCCTGCGTTTCAAGTGGGGTAAGGGCTGCTGGTCTCTGGCCACAGCCATCCTCCCGGCCCAGAGATGGCCCTGTGGGCCCCTGGCTCCCGCCCCCTCGGGCTGGCTTGTATGGGGGTAGATGGGCGTGTTTGTAGCGCCAGGAAGGGGACAGGTGCTGAGACTAGGCCTGCCTCTCGCAGGGGCTTGCCCAAGGGAGCTGAATTGAACTGGAGGATGTCGGGGGTGGCAGTGGCCAGAGGCTGGCACAGAAGCTTGGCTCAGGGCCCAGCTTATGCTAACATTTCTACCTCCCCCCTGGGCAGGAATCGGGCGCCTGATTGCTGAGTGTCATCTCAACCCCATCATCCTGCCCCTGTGGCATGTCGGTGAGCCTGGGGACGGGGACAGAGAGATGGCATCTGGGGTGGGGGGCCTGGGACTCCCTCTGGTCCCAGGCTGCCCTGCTCCACCCCACGTCTGGCCTTCTGTCCACTGTGCTGCAGGAATGAATGACGTCCTTCCTAACAGTCCGCCCTACTTCCCCCGCTTTGGACAGGTGGGTGGGGACTGCTGACCTTCGGCTGTCTGCCTGTCTGCTGTCTGCTCCGTGTCTCCCACTCAGCACTATGGAGGCCAGCTGCAGGAGGAGCTGAGCATGAGGCTACAGCAGGGGACAGAGTGGAACATAGACAGGGACTTCCTGGCACCGAGACATTAAAATGAGAGCAGAGGAAGTCAGGCTGGGGCAGAGGTGGGCTGTGGGGTCAGGACAGGACAGGTCATCTACAGCACAGGACCCAGGACCAGGACCTTGTTTTAGAGGAAGAGTGGCCCCTGGGGAGTGTGTGGCACAGCAGGGCCGGGGCTTAGCTTCTGGCTCCCGGGTTGCTTGGGCTGGGGCTGTGGGCACTCCTACTGCTCCTCATCACTCTTGGCGGCCACCCCACAGAAAATCACTGTGCTGATCGGGAAGCCCTTCAGTGCCCTGCCTGTACTCGAGCGGCTCCGGGCGGAGAACAAGTCGGCTGTGAGTTTCCTCCTGGGTCCCCCGTAGCTGTCCCCGGACCCCCTGCTGCTGGCTTCCAGCAGGGTGCCTCCACCCTCTCCATCCCGTCACCCTCCCAGGGCACCTTGGCCAAGCTTCCCGAGGGGTGCAGGCCATCCCTGGTCCTTTCCCTCAGGTGGAGATGCGGAAAGCCCTGACGGACTTCATTCAAGAGGAATTCCAGCATCTGAAGACTCAGGCAGAGCAGCTCCACAACCACCTCCAGCCTGGGAGATAGGCCTTGCTTGCTGCCTTCTGGATTCTTGGCCCGCACAGAGCTGGGGCTGAGGGATGGACTGATGCTTTTAGCTCAAACGTGGCTTTTAGACAGATTTGTTCATAGACCCTCTCAAGTGCCCTCTCCGAGCTGGTAGGCATTCCAGCTCCTCCGTGCTTCCTCAGTTACACAAAGGACCTCAGCTGCTTCTCCCACTTGGCCAAGCAGGGAGGAAGAAGCTTAGGCAGGGCTCTCTTTCCTTCTTGCCTTCAGATGTTCTCTCCCAGGGGCTGGCTTCAGGAGGGAGCATAGAAGGCAGGTGAGCAACCAGTTGGCTAGGGGAGCAGGGGGCCCACCAGAGCTGTGGAGAGGGGACCCTAAGACTCCTCGGCCTGGCTCCTACCCACCGCCCTTGCCGAACCAGGAGCTGCTCACTACCTCCTCAGGGATGGCCGTTGGCCACGTCTTCCTTCTGCCTGAGCTTCCCCCCCACCACAGGCCCTTTCCTCAGGCAAGGTCTGGCCTCAGGTGGGCCGCAGGCGGGAAAAGCAGCCCTTGGCCAGAAGTCAAGCCCAGCCACGTGGAGCCTAGAGTGAGGGCCTGAGGTCTGGCTGCTTGCCCCCATGCTGGCGCCAACAACTTCTCCATCCTTTCTGCCTCTCAACATCACTTGAATCCTAGGGCCTGGGTTTTCATGTTTTTGAAACAGAACCATAAAGCATATGTGTTGGCTTGTTGTAAAATGTCTCTGGCCTCTCTGTAGGGGTGAAAATGGGAAGTGACTGCTGGACAGAAAGGCTGAACCCTTAGTGCCCTGGGGACATGGAGCACACTTGAGCAGATGGGCATCAACCTCTTCTGCACCAGTCACTTAAGGCTTCAGTTATTGTCTGTAATCCCTGTAACAACATTGCAGAAATAGGGATTAATCTCATTTTGCCAAGGAGGTGGAGTGAGGCTAATGAACTTGCTTCAAAACCCAAAGCTAGCCAGGTAGATTGGGGCCACACTTCAGAGAGACCCAAGTGTGGAGAATCAATTGGATCCTACCTGGGCTGCATCATAGGTGGGAGAGGAGCTCTGAAGAGCCCGGCAAGTAGCCAGCCATGAGCAGTGCACGCTGTGATCAGGAGGTAGGATTGGGGTTGCCCAGATGGAGCTGGGGGTCCTGGGTGGGAGCAAAGGCAAATCCAGGGTGGTGGCGTAGACACAGTATTAAAAATACTATAACAGAAACGTGGAAAGAAAGAAAATATAGAACCACCAAAGATGAGCCAGCAACAAGAGAAGATTCAGACAACCAGGTCTTTCAGCAGTGTTGGTGCCTAATTATTTCAAAATAAAAGGTTTTTAAAAAAATGACCAAAAAGGGAAAAAAATTACCTGGGAAAAAACAAACACTTGTAATTAAATATAGATAGAAGCAGCTGGGCACCATGGCTCACGCCTGTAATCCCAACACTTTAGGAAGCCAAGGTGGGCGGATCATTTGAAGTCAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGGCCAGTCGCAGTGGCTCACACCTGTAATCCCAACACTTTAGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTGAAAATACAAAATTAGCAGGGCATGGTAGCGCATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGAAACAGCAGCGAAACTCCGTCTCAAAAAAAGAAAAAAAAAAGGCTGGGCCTGGTGGCTCACACCTGNNNNNNNNNNNNN | benign | 342,314 |
Evaluate this variant at chromosome X, position 154428787, gene ATP6AP1 (ATPase H+ transporting accessory protein 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | CGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTTGCTAGGCTGGTCTCAAACTCTTGACCTCAGGTTATCTGCCCGCCTCAGCCTCCCAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGGATTTCAATGAACAAAATGCTTTTACCCTAAAGATGAAGTCCCCAGACAGAAGGTGCTCATTGGTGCTGTCAACATTTGGTGATTGGTTCAGTTTAGATATCACCTCCTGGTGGGAGCAGCTTCATCGGTGCCCCTCTCCTTACATCCCTCCCAGTCCCATGTCTCAACCTTTGGAATATTCATGACCCTGTATCATGACCTGCTGTCCTGCATGTCCTCTAGACCAAACTGTCAACTTCCGGGGCAGAGTCCAGGTGCCTGGCCCATAGCAGGTGCTTCAGGAAGCCTCCAGGGCCATCACTCCAGGGACCCCTAGCAATGCAGGGAAGAATAAAAGCAGCCACAGGTGGGTTTCTTCCCTAAGCATGGAAGCAGCTCAGCAACAGAGTCCTGGCGGAGGCAAGATTGCCTTCCGCATTCCAGAGGAAGTATTTGCCTTGAAACTATGTAACAAAAGTAACAGAAACATAATAGACATGCTTTCCTTTTTAAGTTTGCTGGATTCTCCTGGGATACAGTGAAGCTCCAGTGAAAACCTCTCTCCTCAGCTAGTTAAGGCCTGGAAATGGCCACTTGGGGGTTTCCCTAAGCACCCGAAACTCAGTGAGCCCCCAAGTGACCTCGTCTCCCAGTCCCCAACTCAGAGAGACCCAAAAGCTACAATCTTCTTTGACTGTATTGTCAGACCCACTTCCTCTCTCCAGCTCAACTGCCACTATCCTAGTCCTAGTCTGAATCACATGTGACAATCATGACTACAATCTTTTTTTTTTTTTTTTTTTGAGATGGACTCTCACTCTGTCGCCCAGGATGGAGTGCAGTGGCGCGATCTCGGCCCACTGCAACCTCCGCCTCGCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAACTGGGACTACAGGTGTGCACCACCATGCCCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGTGCAGGATGGTCTCGATCTCTTGACCTCATGATTCGCCCGCCTCGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCGTTAGGGTGTCTTTGATGCCACGCTTCGCTCTGGGTTTTCTCCTTCCTCTTTGATTGCTCCTTGTCCGATCTCTTTTCTGGACCCTTCTCCTCCTGCCCAATGTAAGTGCTGGGTGTTCCCCTAGATGCTATCCTGAGCCCGCTTCACTCCTCGTTCTAAGGGATTACAGTCTCCTCTCACCTGTATCAGGGAGGGTCCATCTGCAGGAAAAAGACACCACTTTTGCAATTTTAAGGAAAAGGATTAAAACAGGGATTGGCCGGGTGCGGCGATGCGCGCCTGTAGTCCCACTTTTCCGGAGGCTGAGGCGGGAGGATCGCTTGAGCCCGGGGACTCGAGACCAGCCTGGCCAACATAGCTAGACCCCGTCTCTAAAGAAAAAAAAAAGACAAAAGAAGAGAACAACAACAAAAAAACCAAAATAAAAATAAAAATAAAAACGGACGGGCGAACGCGTCGGGTGGGCGTAGGGTTCCGCGAAGCCTCCCTGTCCCTCTTGTCTCGTCCTAGTCGGTCTAGCTGGGCCCCATCCCCTTTCCCACTCGGAGCGTGAGCGCCTGGAGACACGTACAGCCAACCAGTGAGAAGGAGTGGCCGCGAGTGGCATGCACTTGGTCCAATTACCTGCGGCCCTGCCGGTCGGCCCGCGCTGGGGCCAATGGAGGTGCGAGGCGGGGCTCGGGCGGGGGCAACGGTCACCTGATCTGCGGCTGTCGAGGCCGCTGAGGCAGTGGAGGCTGAGGCTATGATGGCGGCCATGGCGACGGCTCGAGTGCGGATGGGGCCGCGGTGCGCCCAGGCGCTCTGGCGCATGCCGTGGCTGCCGGTGTTTTTGTCGTTGGCGGCGGCGGCGGCGGCGGCAGCGGCGGAGCAGCAGGTCCCGCTGGTGCTGTGGTCGAGTGACCGGTGAGCGGGCCGGGGTGGGATGCGCTGTGGCGGCTGAGGCGCCCTCGCCCGACTCCGGCGCTGTCCTAGGCGAGGGGTGGTGAGGCCCGGAGGTGGACTGTTCCTTGCTCGGGGGCTCGCAGCGAATCTGCCGGCGACAGAGCTCCAGTCCACATGCGCCCCCGTCTGACAGCACCTCTTCTGTGCCCTGCCAGGGACTTGTGGGCTCCTGCGGCCGACACTCATGAAGGCCACATCACCAGCGACTTGCAGCTCTCTACCTACTTAGATCCCGCCCTGGAGCTGGGTCCCAGGAATGTGCTGCTGTTCCTGCAGGACAAGGTGCGCCCGCCCCAGCCCACTCTCCCCCGGTCATCGGGAGGCAGCCAGGCCCCCTCCCCCCATGACACTGACGCCCATTCCCCAAGGGAAGCTTCAGTGACCTTGTCCCAACTGTAGGGAGGTGTGGGTCGTCTCATGGGAAGGCCTGTAGTAAACGCTTCAGTGGGCATGGCGACAGCCTCGGAAATGGCACCAACTTGATTGGAGGAAGCGACGGACCAGAGGCCAGGTACCTACTGAGTACCAAGCACTTTGGATATCTGACTTAGTCCAATATGGTGGGTGGGGATTATCGTCCCTGTTTGTTTATAGATGAGAAGACTGAGGCTGGAGGTTAAGTGACTTGTCCAAGCTCATACAGCTAATGGGTGGCAGAGTTGTAATTCTAGCTGTGATGATCATAATAATGATAATTGGAAAATGCTCACCTGTTTAGTGCTTTGTAGGCACTTGCTACACTGATGTCATTATCTTGGTTTCACTGCCAAGGAAAGTAAGGTTTGTCGAGATACAATGTTTCACTACAGTTGATAGATACCACTTTGGTTCCAGCCTGAGTCTGCCAATCCTCCCTCCCAATTGGAGCTCATAACCCGCATGCTGTTTTCCTTCCCATCCAGGATCTTTGCCCCAAAAGCAGGCGTGGAGACCATGAGATGACTCTAAGATAGCAAGTCTCTGCTAGGCCCTCCCTTGTTGGTGGCCTGTATGGCTCATTGCCCTTGTAGTCTCCCTTGGTTGCTGTGTGGGCAGATGGTGGTGGCCTGAAGTCTTTTCAGGAGGTGGTAAATAATATAGTCAAATAGGAACTGAGTCCTAGTTCTACCATGTAACCAGCCATTGGAGGCATGAAATAATCTTTGTGAATGACAGTTTCTACATCTGTAAAATGAAGACACCACCTATATCAGAGGGCTGTGAGTGGGAAATCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAATGCAGTGGTGCAATGTCAGCTCAGCTCACTGCACCCTCCGCCTCCCGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTAGGATTACAGGGCGCCCGCCACTACACCCAGCTAATTTTTGTATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAACTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTGAGGGGGAATTCTTATAATCCACATAAAACATCTAGCCAGGATCCCCCAGTCTTAGGGCATTCACCCATTCATTCATTTGCCCAATATGGAAAGCCTACTATGTGCCAGGTATTGTGAAGTGTTGGGGATATGGCAGTGAGCAGAAGAACCCAAGCCCCCACCCTCAGGAAGCTGACATTCTTGTGAGGGTGGCCAGTAAATACTAAGTCGGTATAGGATATGATGTCAGTGTTACGGCCTTTAGGGAAGGAAGCAGGCTAAGGGGACAGAGTGACTGGGATGCTATTTTAGATAAGGGTGGTCAGGCCAGGCCTCATTGAGGAGGTGATATATGAGCAGCGATCTTAATGGAGGGAGGGAGCCGTTTGGGGAAGGACATTCCTGGAACAGCAAATGCGAGGGTCCTGGGCGA | CGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTTGCTAGGCTGGTCTCAAACTCTTGACCTCAGGTTATCTGCCCGCCTCAGCCTCCCAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGGATTTCAATGAACAAAATGCTTTTACCCTAAAGATGAAGTCCCCAGACAGAAGGTGCTCATTGGTGCTGTCAACATTTGGTGATTGGTTCAGTTTAGATATCACCTCCTGGTGGGAGCAGCTTCATCGGTGCCCCTCTCCTTACATCCCTCCCAGTCCCATGTCTCAACCTTTGGAATATTCATGACCCTGTATCATGACCTGCTGTCCTGCATGTCCTCTAGACCAAACTGTCAACTTCCGGGGCAGAGTCCAGGTGCCTGGCCCATAGCAGGTGCTTCAGGAAGCCTCCAGGGCCATCACTCCAGGGACCCCTAGCAATGCAGGGAAGAATAAAAGCAGCCACAGGTGGGTTTCTTCCCTAAGCATGGAAGCAGCTCAGCAACAGAGTCCTGGCGGAGGCAAGATTGCCTTCCGCATTCCAGAGGAAGTATTTGCCTTGAAACTATGTAACAAAAGTAACAGAAACATAATAGACATGCTTTCCTTTTTAAGTTTGCTGGATTCTCCTGGGATACAGTGAAGCTCCAGTGAAAACCTCTCTCCTCAGCTAGTTAAGGCCTGGAAATGGCCACTTGGGGGTTTCCCTAAGCACCCGAAACTCAGTGAGCCCCCAAGTGACCTCGTCTCCCAGTCCCCAACTCAGAGAGACCCAAAAGCTACAATCTTCTTTGACTGTATTGTCAGACCCACTTCCTCTCTCCAGCTCAACTGCCACTATCCTAGTCCTAGTCTGAATCACATGTGACAATCATGACTACAATCTTTTTTTTTTTTTTTTTTTGAGATGGACTCTCACTCTGTCGCCCAGGATGGAGTGCAGTGGCGCGATCTCGGCCCACTGCAACCTCCGCCTCGCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAACTGGGACTACAGGTGTGCACCACCATGCCCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGTGCAGGATGGTCTCGATCTCTTGACCTCATGATTCGCCCGCCTCGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCGTTAGGGTGTCTTTGATGCCACGCTTCGCTCTGGGTTTTCTCCTTCCTCTTTGATTGCTCCTTGTCCGATCTCTTTTCTGGACCCTTCTCCTCCTGCCCAATGTAAGTGCTGGGTGTTCCCCTAGATGCTATCCTGAGCCCGCTTCACTCCTCGTTCTAAGGGATTACAGTCTCCTCTCACCTGTATCAGGGAGGGTCCATCTGCAGGAAAAAGACACCACTTTTGCAATTTTAAGGAAAAGGATTAAAACAGGGATTGGCCGGGTGCGGCGATGCGCGCCTGTAGTCCCACTTTTCCGGAGGCTGAGGCGGGAGGATCGCTTGAGCCCGGGGACTCGAGACCAGCCTGGCCAACATAGCTAGACCCCGTCTCTAAAGAAAAAAAAAAGACAAAAGAAGAGAACAACAACAAAAAAACCAAAATAAAAATAAAAATAAAAACGGACGGGCGAACGCGTCGGGTGGGCGTAGGGTTCCGCGAAGCCTCCCTGTCCCTCTTGTCTCGTCCTAGTCGGTCTAGCTGGGCCCCATCCCCTTTCCCACTCGGAGCGTGAGCGCCTGGAGACACGTACAGCCAACCAGTGAGAAGGAGTGGCCGCGAGTGGCATGCACTTGGTCCAATTACCTGCGGCCCTGCCGGTCGGCCCGCGCTGGGGCCAATGGAGGTGCGAGGCGGGGCTCGGGCGGGGGCAACGGTCACCTGATCTGCGGCTGTCGAGGCCGCTGAGGCAGTGGAGGCTGAGGCTATGATGGCGGCCATGGCGACGGCTCGAGTGCGGATGGGGCCGCGGTGCGCCCAGGCGCTCTGGCGCATGCCGTGGCTGCCGGTGTTTTTGTCGTTGGCGGCGGCGGCGGCGGCGGCGGCAGCGGCGGAGCAGCAGGTCCCGCTGGTGCTGTGGTCGAGTGACCGGTGAGCGGGCCGGGGTGGGATGCGCTGTGGCGGCTGAGGCGCCCTCGCCCGACTCCGGCGCTGTCCTAGGCGAGGGGTGGTGAGGCCCGGAGGTGGACTGTTCCTTGCTCGGGGGCTCGCAGCGAATCTGCCGGCGACAGAGCTCCAGTCCACATGCGCCCCCGTCTGACAGCACCTCTTCTGTGCCCTGCCAGGGACTTGTGGGCTCCTGCGGCCGACACTCATGAAGGCCACATCACCAGCGACTTGCAGCTCTCTACCTACTTAGATCCCGCCCTGGAGCTGGGTCCCAGGAATGTGCTGCTGTTCCTGCAGGACAAGGTGCGCCCGCCCCAGCCCACTCTCCCCCGGTCATCGGGAGGCAGCCAGGCCCCCTCCCCCCATGACACTGACGCCCATTCCCCAAGGGAAGCTTCAGTGACCTTGTCCCAACTGTAGGGAGGTGTGGGTCGTCTCATGGGAAGGCCTGTAGTAAACGCTTCAGTGGGCATGGCGACAGCCTCGGAAATGGCACCAACTTGATTGGAGGAAGCGACGGACCAGAGGCCAGGTACCTACTGAGTACCAAGCACTTTGGATATCTGACTTAGTCCAATATGGTGGGTGGGGATTATCGTCCCTGTTTGTTTATAGATGAGAAGACTGAGGCTGGAGGTTAAGTGACTTGTCCAAGCTCATACAGCTAATGGGTGGCAGAGTTGTAATTCTAGCTGTGATGATCATAATAATGATAATTGGAAAATGCTCACCTGTTTAGTGCTTTGTAGGCACTTGCTACACTGATGTCATTATCTTGGTTTCACTGCCAAGGAAAGTAAGGTTTGTCGAGATACAATGTTTCACTACAGTTGATAGATACCACTTTGGTTCCAGCCTGAGTCTGCCAATCCTCCCTCCCAATTGGAGCTCATAACCCGCATGCTGTTTTCCTTCCCATCCAGGATCTTTGCCCCAAAAGCAGGCGTGGAGACCATGAGATGACTCTAAGATAGCAAGTCTCTGCTAGGCCCTCCCTTGTTGGTGGCCTGTATGGCTCATTGCCCTTGTAGTCTCCCTTGGTTGCTGTGTGGGCAGATGGTGGTGGCCTGAAGTCTTTTCAGGAGGTGGTAAATAATATAGTCAAATAGGAACTGAGTCCTAGTTCTACCATGTAACCAGCCATTGGAGGCATGAAATAATCTTTGTGAATGACAGTTTCTACATCTGTAAAATGAAGACACCACCTATATCAGAGGGCTGTGAGTGGGAAATCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAATGCAGTGGTGCAATGTCAGCTCAGCTCACTGCACCCTCCGCCTCCCGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTAGGATTACAGGGCGCCCGCCACTACACCCAGCTAATTTTTGTATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAACTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTGAGGGGGAATTCTTATAATCCACATAAAACATCTAGCCAGGATCCCCCAGTCTTAGGGCATTCACCCATTCATTCATTTGCCCAATATGGAAAGCCTACTATGTGCCAGGTATTGTGAAGTGTTGGGGATATGGCAGTGAGCAGAAGAACCCAAGCCCCCACCCTCAGGAAGCTGACATTCTTGTGAGGGTGGCCAGTAAATACTAAGTCGGTATAGGATATGATGTCAGTGTTACGGCCTTTAGGGAAGGAAGCAGGCTAAGGGGACAGAGTGACTGGGATGCTATTTTAGATAAGGGTGGTCAGGCCAGGCCTCATTGAGGAGGTGATATATGAGCAGCGATCTTAATGGAGGGAGGGAGCCGTTTGGGGAAGGACATTCCTGGAACAGCAAATGCGAGGGTCCTGGG | benign | 342,320 |
Variant chromosome X, position 154428787, gene ATP6AP1 (ATPase H+ transporting accessory protein 1): benign or pathogenic? Disease(s)? | benign | CGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTTGCTAGGCTGGTCTCAAACTCTTGACCTCAGGTTATCTGCCCGCCTCAGCCTCCCAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGGATTTCAATGAACAAAATGCTTTTACCCTAAAGATGAAGTCCCCAGACAGAAGGTGCTCATTGGTGCTGTCAACATTTGGTGATTGGTTCAGTTTAGATATCACCTCCTGGTGGGAGCAGCTTCATCGGTGCCCCTCTCCTTACATCCCTCCCAGTCCCATGTCTCAACCTTTGGAATATTCATGACCCTGTATCATGACCTGCTGTCCTGCATGTCCTCTAGACCAAACTGTCAACTTCCGGGGCAGAGTCCAGGTGCCTGGCCCATAGCAGGTGCTTCAGGAAGCCTCCAGGGCCATCACTCCAGGGACCCCTAGCAATGCAGGGAAGAATAAAAGCAGCCACAGGTGGGTTTCTTCCCTAAGCATGGAAGCAGCTCAGCAACAGAGTCCTGGCGGAGGCAAGATTGCCTTCCGCATTCCAGAGGAAGTATTTGCCTTGAAACTATGTAACAAAAGTAACAGAAACATAATAGACATGCTTTCCTTTTTAAGTTTGCTGGATTCTCCTGGGATACAGTGAAGCTCCAGTGAAAACCTCTCTCCTCAGCTAGTTAAGGCCTGGAAATGGCCACTTGGGGGTTTCCCTAAGCACCCGAAACTCAGTGAGCCCCCAAGTGACCTCGTCTCCCAGTCCCCAACTCAGAGAGACCCAAAAGCTACAATCTTCTTTGACTGTATTGTCAGACCCACTTCCTCTCTCCAGCTCAACTGCCACTATCCTAGTCCTAGTCTGAATCACATGTGACAATCATGACTACAATCTTTTTTTTTTTTTTTTTTTGAGATGGACTCTCACTCTGTCGCCCAGGATGGAGTGCAGTGGCGCGATCTCGGCCCACTGCAACCTCCGCCTCGCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAACTGGGACTACAGGTGTGCACCACCATGCCCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGTGCAGGATGGTCTCGATCTCTTGACCTCATGATTCGCCCGCCTCGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCGTTAGGGTGTCTTTGATGCCACGCTTCGCTCTGGGTTTTCTCCTTCCTCTTTGATTGCTCCTTGTCCGATCTCTTTTCTGGACCCTTCTCCTCCTGCCCAATGTAAGTGCTGGGTGTTCCCCTAGATGCTATCCTGAGCCCGCTTCACTCCTCGTTCTAAGGGATTACAGTCTCCTCTCACCTGTATCAGGGAGGGTCCATCTGCAGGAAAAAGACACCACTTTTGCAATTTTAAGGAAAAGGATTAAAACAGGGATTGGCCGGGTGCGGCGATGCGCGCCTGTAGTCCCACTTTTCCGGAGGCTGAGGCGGGAGGATCGCTTGAGCCCGGGGACTCGAGACCAGCCTGGCCAACATAGCTAGACCCCGTCTCTAAAGAAAAAAAAAAGACAAAAGAAGAGAACAACAACAAAAAAACCAAAATAAAAATAAAAATAAAAACGGACGGGCGAACGCGTCGGGTGGGCGTAGGGTTCCGCGAAGCCTCCCTGTCCCTCTTGTCTCGTCCTAGTCGGTCTAGCTGGGCCCCATCCCCTTTCCCACTCGGAGCGTGAGCGCCTGGAGACACGTACAGCCAACCAGTGAGAAGGAGTGGCCGCGAGTGGCATGCACTTGGTCCAATTACCTGCGGCCCTGCCGGTCGGCCCGCGCTGGGGCCAATGGAGGTGCGAGGCGGGGCTCGGGCGGGGGCAACGGTCACCTGATCTGCGGCTGTCGAGGCCGCTGAGGCAGTGGAGGCTGAGGCTATGATGGCGGCCATGGCGACGGCTCGAGTGCGGATGGGGCCGCGGTGCGCCCAGGCGCTCTGGCGCATGCCGTGGCTGCCGGTGTTTTTGTCGTTGGCGGCGGCGGCGGCGGCGGCAGCGGCGGAGCAGCAGGTCCCGCTGGTGCTGTGGTCGAGTGACCGGTGAGCGGGCCGGGGTGGGATGCGCTGTGGCGGCTGAGGCGCCCTCGCCCGACTCCGGCGCTGTCCTAGGCGAGGGGTGGTGAGGCCCGGAGGTGGACTGTTCCTTGCTCGGGGGCTCGCAGCGAATCTGCCGGCGACAGAGCTCCAGTCCACATGCGCCCCCGTCTGACAGCACCTCTTCTGTGCCCTGCCAGGGACTTGTGGGCTCCTGCGGCCGACACTCATGAAGGCCACATCACCAGCGACTTGCAGCTCTCTACCTACTTAGATCCCGCCCTGGAGCTGGGTCCCAGGAATGTGCTGCTGTTCCTGCAGGACAAGGTGCGCCCGCCCCAGCCCACTCTCCCCCGGTCATCGGGAGGCAGCCAGGCCCCCTCCCCCCATGACACTGACGCCCATTCCCCAAGGGAAGCTTCAGTGACCTTGTCCCAACTGTAGGGAGGTGTGGGTCGTCTCATGGGAAGGCCTGTAGTAAACGCTTCAGTGGGCATGGCGACAGCCTCGGAAATGGCACCAACTTGATTGGAGGAAGCGACGGACCAGAGGCCAGGTACCTACTGAGTACCAAGCACTTTGGATATCTGACTTAGTCCAATATGGTGGGTGGGGATTATCGTCCCTGTTTGTTTATAGATGAGAAGACTGAGGCTGGAGGTTAAGTGACTTGTCCAAGCTCATACAGCTAATGGGTGGCAGAGTTGTAATTCTAGCTGTGATGATCATAATAATGATAATTGGAAAATGCTCACCTGTTTAGTGCTTTGTAGGCACTTGCTACACTGATGTCATTATCTTGGTTTCACTGCCAAGGAAAGTAAGGTTTGTCGAGATACAATGTTTCACTACAGTTGATAGATACCACTTTGGTTCCAGCCTGAGTCTGCCAATCCTCCCTCCCAATTGGAGCTCATAACCCGCATGCTGTTTTCCTTCCCATCCAGGATCTTTGCCCCAAAAGCAGGCGTGGAGACCATGAGATGACTCTAAGATAGCAAGTCTCTGCTAGGCCCTCCCTTGTTGGTGGCCTGTATGGCTCATTGCCCTTGTAGTCTCCCTTGGTTGCTGTGTGGGCAGATGGTGGTGGCCTGAAGTCTTTTCAGGAGGTGGTAAATAATATAGTCAAATAGGAACTGAGTCCTAGTTCTACCATGTAACCAGCCATTGGAGGCATGAAATAATCTTTGTGAATGACAGTTTCTACATCTGTAAAATGAAGACACCACCTATATCAGAGGGCTGTGAGTGGGAAATCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAATGCAGTGGTGCAATGTCAGCTCAGCTCACTGCACCCTCCGCCTCCCGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTAGGATTACAGGGCGCCCGCCACTACACCCAGCTAATTTTTGTATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAACTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTGAGGGGGAATTCTTATAATCCACATAAAACATCTAGCCAGGATCCCCCAGTCTTAGGGCATTCACCCATTCATTCATTTGCCCAATATGGAAAGCCTACTATGTGCCAGGTATTGTGAAGTGTTGGGGATATGGCAGTGAGCAGAAGAACCCAAGCCCCCACCCTCAGGAAGCTGACATTCTTGTGAGGGTGGCCAGTAAATACTAAGTCGGTATAGGATATGATGTCAGTGTTACGGCCTTTAGGGAAGGAAGCAGGCTAAGGGGACAGAGTGACTGGGATGCTATTTTAGATAAGGGTGGTCAGGCCAGGCCTCATTGAGGAGGTGATATATGAGCAGCGATCTTAATGGAGGGAGGGAGCCGTTTGGGGAAGGACATTCCTGGAACAGCAAATGCGAGGGTCCTGGGCGA | CGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTTGCTAGGCTGGTCTCAAACTCTTGACCTCAGGTTATCTGCCCGCCTCAGCCTCCCAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGGATTTCAATGAACAAAATGCTTTTACCCTAAAGATGAAGTCCCCAGACAGAAGGTGCTCATTGGTGCTGTCAACATTTGGTGATTGGTTCAGTTTAGATATCACCTCCTGGTGGGAGCAGCTTCATCGGTGCCCCTCTCCTTACATCCCTCCCAGTCCCATGTCTCAACCTTTGGAATATTCATGACCCTGTATCATGACCTGCTGTCCTGCATGTCCTCTAGACCAAACTGTCAACTTCCGGGGCAGAGTCCAGGTGCCTGGCCCATAGCAGGTGCTTCAGGAAGCCTCCAGGGCCATCACTCCAGGGACCCCTAGCAATGCAGGGAAGAATAAAAGCAGCCACAGGTGGGTTTCTTCCCTAAGCATGGAAGCAGCTCAGCAACAGAGTCCTGGCGGAGGCAAGATTGCCTTCCGCATTCCAGAGGAAGTATTTGCCTTGAAACTATGTAACAAAAGTAACAGAAACATAATAGACATGCTTTCCTTTTTAAGTTTGCTGGATTCTCCTGGGATACAGTGAAGCTCCAGTGAAAACCTCTCTCCTCAGCTAGTTAAGGCCTGGAAATGGCCACTTGGGGGTTTCCCTAAGCACCCGAAACTCAGTGAGCCCCCAAGTGACCTCGTCTCCCAGTCCCCAACTCAGAGAGACCCAAAAGCTACAATCTTCTTTGACTGTATTGTCAGACCCACTTCCTCTCTCCAGCTCAACTGCCACTATCCTAGTCCTAGTCTGAATCACATGTGACAATCATGACTACAATCTTTTTTTTTTTTTTTTTTTGAGATGGACTCTCACTCTGTCGCCCAGGATGGAGTGCAGTGGCGCGATCTCGGCCCACTGCAACCTCCGCCTCGCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAACTGGGACTACAGGTGTGCACCACCATGCCCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGTGCAGGATGGTCTCGATCTCTTGACCTCATGATTCGCCCGCCTCGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCGTTAGGGTGTCTTTGATGCCACGCTTCGCTCTGGGTTTTCTCCTTCCTCTTTGATTGCTCCTTGTCCGATCTCTTTTCTGGACCCTTCTCCTCCTGCCCAATGTAAGTGCTGGGTGTTCCCCTAGATGCTATCCTGAGCCCGCTTCACTCCTCGTTCTAAGGGATTACAGTCTCCTCTCACCTGTATCAGGGAGGGTCCATCTGCAGGAAAAAGACACCACTTTTGCAATTTTAAGGAAAAGGATTAAAACAGGGATTGGCCGGGTGCGGCGATGCGCGCCTGTAGTCCCACTTTTCCGGAGGCTGAGGCGGGAGGATCGCTTGAGCCCGGGGACTCGAGACCAGCCTGGCCAACATAGCTAGACCCCGTCTCTAAAGAAAAAAAAAAGACAAAAGAAGAGAACAACAACAAAAAAACCAAAATAAAAATAAAAATAAAAACGGACGGGCGAACGCGTCGGGTGGGCGTAGGGTTCCGCGAAGCCTCCCTGTCCCTCTTGTCTCGTCCTAGTCGGTCTAGCTGGGCCCCATCCCCTTTCCCACTCGGAGCGTGAGCGCCTGGAGACACGTACAGCCAACCAGTGAGAAGGAGTGGCCGCGAGTGGCATGCACTTGGTCCAATTACCTGCGGCCCTGCCGGTCGGCCCGCGCTGGGGCCAATGGAGGTGCGAGGCGGGGCTCGGGCGGGGGCAACGGTCACCTGATCTGCGGCTGTCGAGGCCGCTGAGGCAGTGGAGGCTGAGGCTATGATGGCGGCCATGGCGACGGCTCGAGTGCGGATGGGGCCGCGGTGCGCCCAGGCGCTCTGGCGCATGCCGTGGCTGCCGGTGTTTTTGTCGTTGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCGGCGGAGCAGCAGGTCCCGCTGGTGCTGTGGTCGAGTGACCGGTGAGCGGGCCGGGGTGGGATGCGCTGTGGCGGCTGAGGCGCCCTCGCCCGACTCCGGCGCTGTCCTAGGCGAGGGGTGGTGAGGCCCGGAGGTGGACTGTTCCTTGCTCGGGGGCTCGCAGCGAATCTGCCGGCGACAGAGCTCCAGTCCACATGCGCCCCCGTCTGACAGCACCTCTTCTGTGCCCTGCCAGGGACTTGTGGGCTCCTGCGGCCGACACTCATGAAGGCCACATCACCAGCGACTTGCAGCTCTCTACCTACTTAGATCCCGCCCTGGAGCTGGGTCCCAGGAATGTGCTGCTGTTCCTGCAGGACAAGGTGCGCCCGCCCCAGCCCACTCTCCCCCGGTCATCGGGAGGCAGCCAGGCCCCCTCCCCCCATGACACTGACGCCCATTCCCCAAGGGAAGCTTCAGTGACCTTGTCCCAACTGTAGGGAGGTGTGGGTCGTCTCATGGGAAGGCCTGTAGTAAACGCTTCAGTGGGCATGGCGACAGCCTCGGAAATGGCACCAACTTGATTGGAGGAAGCGACGGACCAGAGGCCAGGTACCTACTGAGTACCAAGCACTTTGGATATCTGACTTAGTCCAATATGGTGGGTGGGGATTATCGTCCCTGTTTGTTTATAGATGAGAAGACTGAGGCTGGAGGTTAAGTGACTTGTCCAAGCTCATACAGCTAATGGGTGGCAGAGTTGTAATTCTAGCTGTGATGATCATAATAATGATAATTGGAAAATGCTCACCTGTTTAGTGCTTTGTAGGCACTTGCTACACTGATGTCATTATCTTGGTTTCACTGCCAAGGAAAGTAAGGTTTGTCGAGATACAATGTTTCACTACAGTTGATAGATACCACTTTGGTTCCAGCCTGAGTCTGCCAATCCTCCCTCCCAATTGGAGCTCATAACCCGCATGCTGTTTTCCTTCCCATCCAGGATCTTTGCCCCAAAAGCAGGCGTGGAGACCATGAGATGACTCTAAGATAGCAAGTCTCTGCTAGGCCCTCCCTTGTTGGTGGCCTGTATGGCTCATTGCCCTTGTAGTCTCCCTTGGTTGCTGTGTGGGCAGATGGTGGTGGCCTGAAGTCTTTTCAGGAGGTGGTAAATAATATAGTCAAATAGGAACTGAGTCCTAGTTCTACCATGTAACCAGCCATTGGAGGCATGAAATAATCTTTGTGAATGACAGTTTCTACATCTGTAAAATGAAGACACCACCTATATCAGAGGGCTGTGAGTGGGAAATCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAATGCAGTGGTGCAATGTCAGCTCAGCTCACTGCACCCTCCGCCTCCCGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTAGGATTACAGGGCGCCCGCCACTACACCCAGCTAATTTTTGTATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAACTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTGAGGGGGAATTCTTATAATCCACATAAAACATCTAGCCAGGATCCCCCAGTCTTAGGGCATTCACCCATTCATTCATTTGCCCAATATGGAAAGCCTACTATGTGCCAGGTATTGTGAAGTGTTGGGGATATGGCAGTGAGCAGAAGAACCCAAGCCCCCACCCTCAGGAAGCTGACATTCTTGTGAGGGTGGCCAGTAAATACTAAGTCGGTATAGGATATGATGTCAGTGTTACGGCCTTTAGGGAAGGAAGCAGGCTAAGGGGACAGAGTGACTGGGATGCTATTTTAGATAAGGGTGGTCAGGCCAGGCCTCATTGAGGAGGTGATATATGAGCAGCGATCTTAATGGAGGGAGGGAGCCGTTTGGGGAAGGACATTCCTGGAACAGCAAATGCGAGGGTCCT | benign | 342,321 |
Gene mutation in G6PD (glucose-6-phosphate dehydrogenase) at chromosome X, position 154532268—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency'] | TGTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGTTATTTTGTTCCCTGCCGGCCTCACCTCCTAGAACCCGGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGCTGCCCAGTGTGTGGCCCTTCTGCCTGGAAGGGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCATGGCTGGACATGGGGTCAGAACCAGAAGTGAGGAGGCTCCTCAGTGGCCACAGAGGAAGCACCCGGGTGACTTGGGGAGTGGGACAAGGAAGTGGGTCCTCAGGGAAGCAAATGACAAGGGGACAGGAGGGGCTGTTTGCGGATTTAATGGCAGGGCATTGAGGTTGGGAGGGGTCCCAGCTGCTGCGTCTGCTTTTCTTATAGCAGAGAGGCTGCCTACGGGTGGCACGGGGTGGCCATGGAGTGCAGAGTTGGTGGGACAGGGGACATCCAGGGGGCTCGAGATGTTGCTGGTGACAAGGAATGTCAAGTGGCACTGAGGCTGGCGGGCAAGGCCACAGGCAGATTCTCTCACGTGGGTGCTCGCCCCTTTCCTCCCCCTCGTCCCTCCCTCCCACCCTGGCCCCACTCAGGAGTGAGACCCAGTGGCCAATAAGCTCTGGGACAGACGAATGGGCGCCCTCCTCCTTCCTTCTGTTGGGCTGGAGTGAGTGGAGGAGGTGACTCAGCTCCTGGGCTCAGGCAGGGTCTGGAGGGGCCAGGATGGTCTCGAGTGCTTGGCAGCTGAGGAATGTAGCTGGGCTCGGGTAGTAGCAGCAGCGAGGGGCGGGCCAGGGTGGCCAGAGCCCGGGGCCAGGAATGTGCAGCTGAGGTCAATGGTCCCGGAGTCCTCCCGACTCGGGGTCGGGCGGCGGGAAGGAGGGTGGCCGTGGCGGGGGTGGAGGTGGGTGCCCAGGGCTCAGAGCTTGTGGGGGTTCACCCACTTGTAGGTGCCCTCATACTGGAAACCCACTCTCTTCATCAGCTCGTCTGCCTCCGTGGGGCCTCGGCTGGAGAGTGACGGGTGGAGGAGAGGCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTTCCTCACCTGCCATAAATATAGGGGATGGGCTTGGGCTTCTCCAGCTCAATCTGGTGCAGCAGTGGGGTGAAAATACGCCAGGCCTCACGGAGCTCGTCGCTGAGGGGACATGGTATGGCTTGGGAGGCCGGTGGCACACAGGGAGGGAGGGCAAAGGCCACCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCTCGTTGGGCTGCACGCGGATCACCAGCTCGTTGCGCTTGCACTGCTGGTGGAAGATGTCGCCGGCCACATCATGGAACTGCAGCCTCACCTCGGCCTTGCGCTCGTTCAGGGCCTTGCCGCAGCGCAGGATGAAGGGCACCCCTACGTGGCGGAAAGGGCAGCCTCAGCACCAGCTCTCTCAGGGTGTGGACCAGTGCGTGAGTGTCTCAGTGGGAGCTCCAGTGCCCGCACACAGGGCATGCCCAGTTCTGCCTTGCTGGGCCTCGAAGGCATCACCTACCATCCCACCTCTCATTCTCCACATAGAGGACGACGGCTGCAAAAGTGGCGGTGGTGGACCCGCGGGGCACCGTGGGGTCGTCCAGGTACCCTTTGGTGGCCTCGCCCTCTCCATCGGGGTTCCCCACGTACTGGCCCAGGACCACATTGTTGGCCTGCACCTCTGAGATGCATTTCAACACCTTGACCTGAGAGAAAGCCAAGGGAGAGAATGGGCTCCTTGGGTGTTGAGTTGGGGTGCAGGGATGACTGTGGCCACAGATGTGCAGCCCTCAGGGCAGGAGGAGGCCCCTGCTTGGCTCTGCTCACCCTGCCAGAGGCCCAGCTCAGGGCCCCTCCCTGAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCGTCACAGATGGGCCTGCGACAGGGCATGCTCCTGGGGACTGGGGTGCACCCCCTACCTTCTCATCACGGACGTCATCTGAGTTGGTGGAGGCGGGCTTCTCCATGGCCACCAGACACAGCATCTGCAGTAGGTGGTTCTGCATCACGTCCCTGGGGACGGAAGAGGCCAGAGCTCGCCTTAGCTCCCCGCCCTGTTCACCTGGTTCAAGGGCATGGGGACCCCAAACAAGGCTTCCTAGTGACAAGCTGCAAGACTCACTTCCTGATCCCCCTTGTCTTCCAGGTCCCCTTAAATCAAGGAAGGACATGGTGATGCTATCACTGAATCATAAAACCGTGGGGTGCTTGGCTGTGTAGGGGTCCAGCCCTTTCCAGCCCGGTCTGATAGCTCAGACACTTAGGTTTTGAACTGCAGGGTGAGGAGGAGCTCCCCCAAGATAGGGAAGAGTAGCCCTGCAGGGTGACTGGCTCTGCCACCCTGTGCCAGCCTCCCAGGAGAGAGGAAGAGCTCTCACCGGATGATCCCAAATTCATCGAAATAGCCCCCGCGACCCTCAGTGCCAAAGGGCTCCTTGAAGGTGAGGATAACGCAGGCGATGTTGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCCCCACCCTGGTCC | TGTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGTTATTTTGTTCCCTGCCGGCCTCACCTCCTAGAACCCGGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGCTGCCCAGTGTGTGGCCCTTCTGCCTGGAAGGGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCATGGCTGGACATGGGGTCAGAACCAGAAGTGAGGAGGCTCCTCAGTGGCCACAGAGGAAGCACCCGGGTGACTTGGGGAGTGGGACAAGGAAGTGGGTCCTCAGGGAAGCAAATGACAAGGGGACAGGAGGGGCTGTTTGCGGATTTAATGGCAGGGCATTGAGGTTGGGAGGGGTCCCAGCTGCTGCGTCTGCTTTTCTTATAGCAGAGAGGCTGCCTACGGGTGGCACGGGGTGGCCATGGAGTGCAGAGTTGGTGGGACAGGGGACATCCAGGGGGCTCGAGATGTTGCTGGTGACAAGGAATGTCAAGTGGCACTGAGGCTGGCGGGCAAGGCCACAGGCAGATTCTCTCACGTGGGTGCTCGCCCCTTTCCTCCCCCTCGTCCCTCCCTCCCACCCTGGCCCCACTCAGGAGTGAGACCCAGTGGCCAATAAGCTCTGGGACAGACGAATGGGCGCCCTCCTCCTTCCTTCTGTTGGGCTGGAGTGAGTGGAGGAGGTGACTCAGCTCCTGGGCTCAGGCAGGGTCTGGAGGGGCCAGGATGGTCTCGAGTGCTTGGCAGCTGAGGAATGTAGCTGGGCTCGGGTAGTAGCAGCAGCGAGGGGCGGGCCAGGGTGGCCAGAGCCCGGGGCCAGGAATGTGCAGCTGAGGTCAATGGTCCCGGAGTCCTCCCGACTCGGGGTCGGGCGGCGGGAAGGAGGGTGGCCGTGGCGGGGGTGGAGGTGGGTGCCCAGGGCTCAGAGCTTGTGGGGGTTCACCCACTTGTAGGTGCCCTCATACTGGAAACCCACTCTCTTCATCAGCTCGTCTGCCTCCGTGGGGCCTCGGCTGGAGAGTGACGGGTGGAGGAGAGGCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTTCCTCACCTGCCATAAATATAGGGGATGGGCTTGGGCTTCTCCAGCTCAATCTGGTGCAGCAGTGGGGTGAAAATACGCCAGGCCTCAGGAGCTCGTCGCTGAGGGGACATGGTATGGCTTGGGAGGCCGGTGGCACACAGGGAGGGAGGGCAAAGGCCACCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCTCGTTGGGCTGCACGCGGATCACCAGCTCGTTGCGCTTGCACTGCTGGTGGAAGATGTCGCCGGCCACATCATGGAACTGCAGCCTCACCTCGGCCTTGCGCTCGTTCAGGGCCTTGCCGCAGCGCAGGATGAAGGGCACCCCTACGTGGCGGAAAGGGCAGCCTCAGCACCAGCTCTCTCAGGGTGTGGACCAGTGCGTGAGTGTCTCAGTGGGAGCTCCAGTGCCCGCACACAGGGCATGCCCAGTTCTGCCTTGCTGGGCCTCGAAGGCATCACCTACCATCCCACCTCTCATTCTCCACATAGAGGACGACGGCTGCAAAAGTGGCGGTGGTGGACCCGCGGGGCACCGTGGGGTCGTCCAGGTACCCTTTGGTGGCCTCGCCCTCTCCATCGGGGTTCCCCACGTACTGGCCCAGGACCACATTGTTGGCCTGCACCTCTGAGATGCATTTCAACACCTTGACCTGAGAGAAAGCCAAGGGAGAGAATGGGCTCCTTGGGTGTTGAGTTGGGGTGCAGGGATGACTGTGGCCACAGATGTGCAGCCCTCAGGGCAGGAGGAGGCCCCTGCTTGGCTCTGCTCACCCTGCCAGAGGCCCAGCTCAGGGCCCCTCCCTGAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCGTCACAGATGGGCCTGCGACAGGGCATGCTCCTGGGGACTGGGGTGCACCCCCTACCTTCTCATCACGGACGTCATCTGAGTTGGTGGAGGCGGGCTTCTCCATGGCCACCAGACACAGCATCTGCAGTAGGTGGTTCTGCATCACGTCCCTGGGGACGGAAGAGGCCAGAGCTCGCCTTAGCTCCCCGCCCTGTTCACCTGGTTCAAGGGCATGGGGACCCCAAACAAGGCTTCCTAGTGACAAGCTGCAAGACTCACTTCCTGATCCCCCTTGTCTTCCAGGTCCCCTTAAATCAAGGAAGGACATGGTGATGCTATCACTGAATCATAAAACCGTGGGGTGCTTGGCTGTGTAGGGGTCCAGCCCTTTCCAGCCCGGTCTGATAGCTCAGACACTTAGGTTTTGAACTGCAGGGTGAGGAGGAGCTCCCCCAAGATAGGGAAGAGTAGCCCTGCAGGGTGACTGGCTCTGCCACCCTGTGCCAGCCTCCCAGGAGAGAGGAAGAGCTCTCACCGGATGATCCCAAATTCATCGAAATAGCCCCCGCGACCCTCAGTGCCAAAGGGCTCCTTGAAGGTGAGGATAACGCAGGCGATGTTGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCCCCACCCTGGTCCN | pathogenic | 342,381 |
Mutation at chromosome X, position 154533012, within G6PD (glucose-6-phosphate dehydrogenase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency', 'Malaria,_susceptibility_to'] | GCTGCCCAGTGTGTGGCCCTTCTGCCTGGAAGGGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCATGGCTGGACATGGGGTCAGAACCAGAAGTGAGGAGGCTCCTCAGTGGCCACAGAGGAAGCACCCGGGTGACTTGGGGAGTGGGACAAGGAAGTGGGTCCTCAGGGAAGCAAATGACAAGGGGACAGGAGGGGCTGTTTGCGGATTTAATGGCAGGGCATTGAGGTTGGGAGGGGTCCCAGCTGCTGCGTCTGCTTTTCTTATAGCAGAGAGGCTGCCTACGGGTGGCACGGGGTGGCCATGGAGTGCAGAGTTGGTGGGACAGGGGACATCCAGGGGGCTCGAGATGTTGCTGGTGACAAGGAATGTCAAGTGGCACTGAGGCTGGCGGGCAAGGCCACAGGCAGATTCTCTCACGTGGGTGCTCGCCCCTTTCCTCCCCCTCGTCCCTCCCTCCCACCCTGGCCCCACTCAGGAGTGAGACCCAGTGGCCAATAAGCTCTGGGACAGACGAATGGGCGCCCTCCTCCTTCCTTCTGTTGGGCTGGAGTGAGTGGAGGAGGTGACTCAGCTCCTGGGCTCAGGCAGGGTCTGGAGGGGCCAGGATGGTCTCGAGTGCTTGGCAGCTGAGGAATGTAGCTGGGCTCGGGTAGTAGCAGCAGCGAGGGGCGGGCCAGGGTGGCCAGAGCCCGGGGCCAGGAATGTGCAGCTGAGGTCAATGGTCCCGGAGTCCTCCCGACTCGGGGTCGGGCGGCGGGAAGGAGGGTGGCCGTGGCGGGGGTGGAGGTGGGTGCCCAGGGCTCAGAGCTTGTGGGGGTTCACCCACTTGTAGGTGCCCTCATACTGGAAACCCACTCTCTTCATCAGCTCGTCTGCCTCCGTGGGGCCTCGGCTGGAGAGTGACGGGTGGAGGAGAGGCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTTCCTCACCTGCCATAAATATAGGGGATGGGCTTGGGCTTCTCCAGCTCAATCTGGTGCAGCAGTGGGGTGAAAATACGCCAGGCCTCACGGAGCTCGTCGCTGAGGGGACATGGTATGGCTTGGGAGGCCGGTGGCACACAGGGAGGGAGGGCAAAGGCCACCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCTCGTTGGGCTGCACGCGGATCACCAGCTCGTTGCGCTTGCACTGCTGGTGGAAGATGTCGCCGGCCACATCATGGAACTGCAGCCTCACCTCGGCCTTGCGCTCGTTCAGGGCCTTGCCGCAGCGCAGGATGAAGGGCACCCCTACGTGGCGGAAAGGGCAGCCTCAGCACCAGCTCTCTCAGGGTGTGGACCAGTGCGTGAGTGTCTCAGTGGGAGCTCCAGTGCCCGCACACAGGGCATGCCCAGTTCTGCCTTGCTGGGCCTCGAAGGCATCACCTACCATCCCACCTCTCATTCTCCACATAGAGGACGACGGCTGCAAAAGTGGCGGTGGTGGACCCGCGGGGCACCGTGGGGTCGTCCAGGTACCCTTTGGTGGCCTCGCCCTCTCCATCGGGGTTCCCCACGTACTGGCCCAGGACCACATTGTTGGCCTGCACCTCTGAGATGCATTTCAACACCTTGACCTGAGAGAAAGCCAAGGGAGAGAATGGGCTCCTTGGGTGTTGAGTTGGGGTGCAGGGATGACTGTGGCCACAGATGTGCAGCCCTCAGGGCAGGAGGAGGCCCCTGCTTGGCTCTGCTCACCCTGCCAGAGGCCCAGCTCAGGGCCCCTCCCTGAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCGTCACAGATGGGCCTGCGACAGGGCATGCTCCTGGGGACTGGGGTGCACCCCCTACCTTCTCATCACGGACGTCATCTGAGTTGGTGGAGGCGGGCTTCTCCATGGCCACCAGACACAGCATCTGCAGTAGGTGGTTCTGCATCACGTCCCTGGGGACGGAAGAGGCCAGAGCTCGCCTTAGCTCCCCGCCCTGTTCACCTGGTTCAAGGGCATGGGGACCCCAAACAAGGCTTCCTAGTGACAAGCTGCAAGACTCACTTCCTGATCCCCCTTGTCTTCCAGGTCCCCTTAAATCAAGGAAGGACATGGTGATGCTATCACTGAATCATAAAACCGTGGGGTGCTTGGCTGTGTAGGGGTCCAGCCCTTTCCAGCCCGGTCTGATAGCTCAGACACTTAGGTTTTGAACTGCAGGGTGAGGAGGAGCTCCCCCAAGATAGGGAAGAGTAGCCCTGCAGGGTGACTGGCTCTGCCACCCTGTGCCAGCCTCCCAGGAGAGAGGAAGAGCTCTCACCGGATGATCCCAAATTCATCGAAATAGCCCCCGCGACCCTCAGTGCCAAAGGGCTCCTTGAAGGTGAGGATAACGCAGGCGATGTTGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCCCCACCCTGGTCCCCCGGCCCAGGCTTGGCCCCACCTCAGCACCATGAGGTTCTGCACCATCTCCTTGCCCAGGTAGTGGTCGATGCGGTAGATCTGGTCCTCACGGAACAGGGAGGAGATGTGGTTGGACAGCCGGTCAGAGCTCTGCAGGTCCCTCCCGAAGGGCTTCTCCACGATGATGCGGTTCCAGCCTCTGCTGGGAGCCCGGAGCTGCGTTACCCCCTTGAACCCCTCTTCGGGGAGTGAGGATCAGAGCTGCATCATTCAGACGCCCTCCCAGGGGAGTAGAGGCCAGAACCTCCTCGCCCCCGTGGCCACCTCCCGTGCCTTGTGTTCCCAGATGACCCTCTGGCTCAACACCTTCCGGGAAGCCTTCCCACCCTGGGTGCCAGGGTGGCATTGCTGGCATGCTGCCGGGGGCCCGTTCCCCTCCTGCCTCATGCTGGGTCCCCGGTGGGTCTGAGTGGCCTGAAGGCCTGTAGGGGAGCAGGGGGAGGAGGCATCCAAGCCATGGCTTCCTCATTGGTTTTGAAAATGAGAAGAGGACCTTTGCTTTACTACCCCCGCATTCAAAACCAGCCAGAGGACAAGAGCCTCTGGCTGGGTTGGGAAACCACCCAGCGCGGGCCATGCTGCATTCGCAGAGCAAGGCTGCCACCCTGCGGCCTGGCCGGGCCTTTGGGGAAGCAGAGCGGAAAGGCGGTGTTTCGTGGAGCAACGCTGCCACCTTGTGGTCCCGCTGGGGATGGCCCCGGC | GCTGCCCAGTGTGTGGCCCTTCTGCCTGGAAGGGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCATGGCTGGACATGGGGTCAGAACCAGAAGTGAGGAGGCTCCTCAGTGGCCACAGAGGAAGCACCCGGGTGACTTGGGGAGTGGGACAAGGAAGTGGGTCCTCAGGGAAGCAAATGACAAGGGGACAGGAGGGGCTGTTTGCGGATTTAATGGCAGGGCATTGAGGTTGGGAGGGGTCCCAGCTGCTGCGTCTGCTTTTCTTATAGCAGAGAGGCTGCCTACGGGTGGCACGGGGTGGCCATGGAGTGCAGAGTTGGTGGGACAGGGGACATCCAGGGGGCTCGAGATGTTGCTGGTGACAAGGAATGTCAAGTGGCACTGAGGCTGGCGGGCAAGGCCACAGGCAGATTCTCTCACGTGGGTGCTCGCCCCTTTCCTCCCCCTCGTCCCTCCCTCCCACCCTGGCCCCACTCAGGAGTGAGACCCAGTGGCCAATAAGCTCTGGGACAGACGAATGGGCGCCCTCCTCCTTCCTTCTGTTGGGCTGGAGTGAGTGGAGGAGGTGACTCAGCTCCTGGGCTCAGGCAGGGTCTGGAGGGGCCAGGATGGTCTCGAGTGCTTGGCAGCTGAGGAATGTAGCTGGGCTCGGGTAGTAGCAGCAGCGAGGGGCGGGCCAGGGTGGCCAGAGCCCGGGGCCAGGAATGTGCAGCTGAGGTCAATGGTCCCGGAGTCCTCCCGACTCGGGGTCGGGCGGCGGGAAGGAGGGTGGCCGTGGCGGGGGTGGAGGTGGGTGCCCAGGGCTCAGAGCTTGTGGGGGTTCACCCACTTGTAGGTGCCCTCATACTGGAAACCCACTCTCTTCATCAGCTCGTCTGCCTCCGTGGGGCCTCGGCTGGAGAGTGACGGGTGGAGGAGAGGCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTTCCTCACCTGCCATAAATATAGGGGATGGGCTTGGGCTTCTCCAGCTCAATCTGGTGCAGCAGTGGGGTGAAAATACGCCAGGCCTCACGGAGCTCGTCGCTGAGGGGACATGGTATGGCTTGGGAGGCCGGTGGCACACAGGGAGGGAGGGCAAAGGCCACCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCTCGTTGGGCTGCACGCGGATCACCAGCTCGTTGCGCTTGCACTGCTGGTGGAAGATGTCGCCGGCCACATCATGGAACTGCAGCCTCACCTCGGCCTTGCGCTCGTTCAGGGCCTTGCCGCAGCGCAGGATGAAGGGCACCCCTACGTGGCGGAAAGGGCAGCCTCAGCACCAGCTCTCTCAGGGTGTGGACCAGTGCGTGAGTGTCTCAGTGGGAGCTCCAGTGCCCGCACACAGGGCATGCCCAGTTCTGCCTTGCTGGGCCTCGAAGGCATCACCTACCATCCCACCTCTCATTCTCCACATAGAGGACGACGGCTGCAAAAGTGGCGGTGGTGGACCCGCGGGGCACCGTGGCCTCGCCCTCTCCATCGGGGTTCCCCACGTACTGGCCCAGGACCACATTGTTGGCCTGCACCTCTGAGATGCATTTCAACACCTTGACCTGAGAGAAAGCCAAGGGAGAGAATGGGCTCCTTGGGTGTTGAGTTGGGGTGCAGGGATGACTGTGGCCACAGATGTGCAGCCCTCAGGGCAGGAGGAGGCCCCTGCTTGGCTCTGCTCACCCTGCCAGAGGCCCAGCTCAGGGCCCCTCCCTGAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCGTCACAGATGGGCCTGCGACAGGGCATGCTCCTGGGGACTGGGGTGCACCCCCTACCTTCTCATCACGGACGTCATCTGAGTTGGTGGAGGCGGGCTTCTCCATGGCCACCAGACACAGCATCTGCAGTAGGTGGTTCTGCATCACGTCCCTGGGGACGGAAGAGGCCAGAGCTCGCCTTAGCTCCCCGCCCTGTTCACCTGGTTCAAGGGCATGGGGACCCCAAACAAGGCTTCCTAGTGACAAGCTGCAAGACTCACTTCCTGATCCCCCTTGTCTTCCAGGTCCCCTTAAATCAAGGAAGGACATGGTGATGCTATCACTGAATCATAAAACCGTGGGGTGCTTGGCTGTGTAGGGGTCCAGCCCTTTCCAGCCCGGTCTGATAGCTCAGACACTTAGGTTTTGAACTGCAGGGTGAGGAGGAGCTCCCCCAAGATAGGGAAGAGTAGCCCTGCAGGGTGACTGGCTCTGCCACCCTGTGCCAGCCTCCCAGGAGAGAGGAAGAGCTCTCACCGGATGATCCCAAATTCATCGAAATAGCCCCCGCGACCCTCAGTGCCAAAGGGCTCCTTGAAGGTGAGGATAACGCAGGCGATGTTGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCCCCACCCTGGTCCCCCGGCCCAGGCTTGGCCCCACCTCAGCACCATGAGGTTCTGCACCATCTCCTTGCCCAGGTAGTGGTCGATGCGGTAGATCTGGTCCTCACGGAACAGGGAGGAGATGTGGTTGGACAGCCGGTCAGAGCTCTGCAGGTCCCTCCCGAAGGGCTTCTCCACGATGATGCGGTTCCAGCCTCTGCTGGGAGCCCGGAGCTGCGTTACCCCCTTGAACCCCTCTTCGGGGAGTGAGGATCAGAGCTGCATCATTCAGACGCCCTCCCAGGGGAGTAGAGGCCAGAACCTCCTCGCCCCCGTGGCCACCTCCCGTGCCTTGTGTTCCCAGATGACCCTCTGGCTCAACACCTTCCGGGAAGCCTTCCCACCCTGGGTGCCAGGGTGGCATTGCTGGCATGCTGCCGGGGGCCCGTTCCCCTCCTGCCTCATGCTGGGTCCCCGGTGGGTCTGAGTGGCCTGAAGGCCTGTAGGGGAGCAGGGGGAGGAGGCATCCAAGCCATGGCTTCCTCATTGGTTTTGAAAATGAGAAGAGGACCTTTGCTTTACTACCCCCGCATTCAAAACCAGCCAGAGGACAAGAGCCTCTGGCTGGGTTGGGAAACCACCCAGCGCGGGCCATGCTGCATTCGCAGAGCAAGGCTGCCACCCTGCGGCCTGGCCGGGCCTTTGGGGAAGCAGAGCGGAAAGGCGGTGTTTCGTGGAGCAACGCTGCCACCTTGTGGTCCCGCTGGGGATGGCCCCGGCNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 342,412 |
Chromosome X, position 154533567, gene G6PD (glucose-6-phosphate dehydrogenase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GACAGGGGACATCCAGGGGGCTCGAGATGTTGCTGGTGACAAGGAATGTCAAGTGGCACTGAGGCTGGCGGGCAAGGCCACAGGCAGATTCTCTCACGTGGGTGCTCGCCCCTTTCCTCCCCCTCGTCCCTCCCTCCCACCCTGGCCCCACTCAGGAGTGAGACCCAGTGGCCAATAAGCTCTGGGACAGACGAATGGGCGCCCTCCTCCTTCCTTCTGTTGGGCTGGAGTGAGTGGAGGAGGTGACTCAGCTCCTGGGCTCAGGCAGGGTCTGGAGGGGCCAGGATGGTCTCGAGTGCTTGGCAGCTGAGGAATGTAGCTGGGCTCGGGTAGTAGCAGCAGCGAGGGGCGGGCCAGGGTGGCCAGAGCCCGGGGCCAGGAATGTGCAGCTGAGGTCAATGGTCCCGGAGTCCTCCCGACTCGGGGTCGGGCGGCGGGAAGGAGGGTGGCCGTGGCGGGGGTGGAGGTGGGTGCCCAGGGCTCAGAGCTTGTGGGGGTTCACCCACTTGTAGGTGCCCTCATACTGGAAACCCACTCTCTTCATCAGCTCGTCTGCCTCCGTGGGGCCTCGGCTGGAGAGTGACGGGTGGAGGAGAGGCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTTCCTCACCTGCCATAAATATAGGGGATGGGCTTGGGCTTCTCCAGCTCAATCTGGTGCAGCAGTGGGGTGAAAATACGCCAGGCCTCACGGAGCTCGTCGCTGAGGGGACATGGTATGGCTTGGGAGGCCGGTGGCACACAGGGAGGGAGGGCAAAGGCCACCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCTCGTTGGGCTGCACGCGGATCACCAGCTCGTTGCGCTTGCACTGCTGGTGGAAGATGTCGCCGGCCACATCATGGAACTGCAGCCTCACCTCGGCCTTGCGCTCGTTCAGGGCCTTGCCGCAGCGCAGGATGAAGGGCACCCCTACGTGGCGGAAAGGGCAGCCTCAGCACCAGCTCTCTCAGGGTGTGGACCAGTGCGTGAGTGTCTCAGTGGGAGCTCCAGTGCCCGCACACAGGGCATGCCCAGTTCTGCCTTGCTGGGCCTCGAAGGCATCACCTACCATCCCACCTCTCATTCTCCACATAGAGGACGACGGCTGCAAAAGTGGCGGTGGTGGACCCGCGGGGCACCGTGGGGTCGTCCAGGTACCCTTTGGTGGCCTCGCCCTCTCCATCGGGGTTCCCCACGTACTGGCCCAGGACCACATTGTTGGCCTGCACCTCTGAGATGCATTTCAACACCTTGACCTGAGAGAAAGCCAAGGGAGAGAATGGGCTCCTTGGGTGTTGAGTTGGGGTGCAGGGATGACTGTGGCCACAGATGTGCAGCCCTCAGGGCAGGAGGAGGCCCCTGCTTGGCTCTGCTCACCCTGCCAGAGGCCCAGCTCAGGGCCCCTCCCTGAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCGTCACAGATGGGCCTGCGACAGGGCATGCTCCTGGGGACTGGGGTGCACCCCCTACCTTCTCATCACGGACGTCATCTGAGTTGGTGGAGGCGGGCTTCTCCATGGCCACCAGACACAGCATCTGCAGTAGGTGGTTCTGCATCACGTCCCTGGGGACGGAAGAGGCCAGAGCTCGCCTTAGCTCCCCGCCCTGTTCACCTGGTTCAAGGGCATGGGGACCCCAAACAAGGCTTCCTAGTGACAAGCTGCAAGACTCACTTCCTGATCCCCCTTGTCTTCCAGGTCCCCTTAAATCAAGGAAGGACATGGTGATGCTATCACTGAATCATAAAACCGTGGGGTGCTTGGCTGTGTAGGGGTCCAGCCCTTTCCAGCCCGGTCTGATAGCTCAGACACTTAGGTTTTGAACTGCAGGGTGAGGAGGAGCTCCCCCAAGATAGGGAAGAGTAGCCCTGCAGGGTGACTGGCTCTGCCACCCTGTGCCAGCCTCCCAGGAGAGAGGAAGAGCTCTCACCGGATGATCCCAAATTCATCGAAATAGCCCCCGCGACCCTCAGTGCCAAAGGGCTCCTTGAAGGTGAGGATAACGCAGGCGATGTTGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCCCCACCCTGGTCCCCCGGCCCAGGCTTGGCCCCACCTCAGCACCATGAGGTTCTGCACCATCTCCTTGCCCAGGTAGTGGTCGATGCGGTAGATCTGGTCCTCACGGAACAGGGAGGAGATGTGGTTGGACAGCCGGTCAGAGCTCTGCAGGTCCCTCCCGAAGGGCTTCTCCACGATGATGCGGTTCCAGCCTCTGCTGGGAGCCCGGAGCTGCGTTACCCCCTTGAACCCCTCTTCGGGGAGTGAGGATCAGAGCTGCATCATTCAGACGCCCTCCCAGGGGAGTAGAGGCCAGAACCTCCTCGCCCCCGTGGCCACCTCCCGTGCCTTGTGTTCCCAGATGACCCTCTGGCTCAACACCTTCCGGGAAGCCTTCCCACCCTGGGTGCCAGGGTGGCATTGCTGGCATGCTGCCGGGGGCCCGTTCCCCTCCTGCCTCATGCTGGGTCCCCGGTGGGTCTGAGTGGCCTGAAGGCCTGTAGGGGAGCAGGGGGAGGAGGCATCCAAGCCATGGCTTCCTCATTGGTTTTGAAAATGAGAAGAGGACCTTTGCTTTACTACCCCCGCATTCAAAACCAGCCAGAGGACAAGAGCCTCTGGCTGGGTTGGGAAACCACCCAGCGCGGGCCATGCTGCATTCGCAGAGCAAGGCTGCCACCCTGCGGCCTGGCCGGGCCTTTGGGGAAGCAGAGCGGAAAGGCGGTGTTTCGTGGAGCAACGCTGCCACCTTGTGGTCCCGCTGGGGATGGCCCCGGCACCATGGATGCTGCCCAGATCCCCGGCCCCGGACACGCTCATAGAGTGGTGGGAGCACTGCCTGGGCCAGCCTGGCAGGCGGGAAGGGAGGGCAACGGCAAGCCTTACATCTGGCTCATGCAGGACTCGTGAATGTTCTTGGTGACGGCCTCGTAGACGGTCGGGGGCAAGGCCAGGTAGAAGAGGCGGTTGGCCTGTGACCCCAGGTGGAGGGCATTCATGTGGCTGTTGAGGCGCTGGTAGGAGGCTGCATCATCGTACTGGCCAGCCACATAGGAGTTGCGGGCAAAGAAGTCCTCCAGCTTGAGCTTCTCCTCTGGGGTGGCCTGGGAGACACGGACAGACAGACACACAGACAGATGTCAGCCCCTCTCTTTGAGTCCGTGTGTGTTCTGCCCCAGGGGAGTGGAGGGTCTTCCCTGGAGGTCCAGGGAGGGTGCCCTCAGAAGTCAGTGTCCCCGTCCCACACTGGGTTCAGCCCCATCTTAGCAGCTCTGCACATCCAGAGGGAGGGAGGCCAAAGCAGGCAGCACAGACACTGCCCCAGGCTGGGAC | GACAGGGGACATCCAGGGGGCTCGAGATGTTGCTGGTGACAAGGAATGTCAAGTGGCACTGAGGCTGGCGGGCAAGGCCACAGGCAGATTCTCTCACGTGGGTGCTCGCCCCTTTCCTCCCCCTCGTCCCTCCCTCCCACCCTGGCCCCACTCAGGAGTGAGACCCAGTGGCCAATAAGCTCTGGGACAGACGAATGGGCGCCCTCCTCCTTCCTTCTGTTGGGCTGGAGTGAGTGGAGGAGGTGACTCAGCTCCTGGGCTCAGGCAGGGTCTGGAGGGGCCAGGATGGTCTCGAGTGCTTGGCAGCTGAGGAATGTAGCTGGGCTCGGGTAGTAGCAGCAGCGAGGGGCGGGCCAGGGTGGCCAGAGCCCGGGGCCAGGAATGTGCAGCTGAGGTCAATGGTCCCGGAGTCCTCCCGACTCGGGGTCGGGCGGCGGGAAGGAGGGTGGCCGTGGCGGGGGTGGAGGTGGGTGCCCAGGGCTCAGAGCTTGTGGGGGTTCACCCACTTGTAGGTGCCCTCATACTGGAAACCCACTCTCTTCATCAGCTCGTCTGCCTCCGTGGGGCCTCGGCTGGAGAGTGACGGGTGGAGGAGAGGCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTTCCTCACCTGCCATAAATATAGGGGATGGGCTTGGGCTTCTCCAGCTCAATCTGGTGCAGCAGTGGGGTGAAAATACGCCAGGCCTCACGGAGCTCGTCGCTGAGGGGACATGGTATGGCTTGGGAGGCCGGTGGCACACAGGGAGGGAGGGCAAAGGCCACCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCTCGTTGGGCTGCACGCGGATCACCAGCTCGTTGCGCTTGCACTGCTGGTGGAAGATGTCGCCGGCCACATCATGGAACTGCAGCCTCACCTCGGCCTTGCGCTCGTTCAGGGCCTTGCCGCAGCGCAGGATGAAGGGCACCCCTACGTGGCGGAAAGGGCAGCCTCAGCACCAGCTCTCTCAGGGTGTGGACCAGTGCGTGAGTGTCTCAGTGGGAGCTCCAGTGCCCGCACACAGGGCATGCCCAGTTCTGCCTTGCTGGGCCTCGAAGGCATCACCTACCATCCCACCTCTCATTCTCCACATAGAGGACGACGGCTGCAAAAGTGGCGGTGGTGGACCCGCGGGGCACCGTGGGGTCGTCCAGGTACCCTTTGGTGGCCTCGCCCTCTCCATCGGGGTTCCCCACGTACTGGCCCAGGACCACATTGTTGGCCTGCACCTCTGAGATGCATTTCAACACCTTGACCTGAGAGAAAGCCAAGGGAGAGAATGGGCTCCTTGGGTGTTGAGTTGGGGTGCAGGGATGACTGTGGCCACAGATGTGCAGCCCTCAGGGCAGGAGGAGGCCCCTGCTTGGCTCTGCTCACCCTGCCAGAGGCCCAGCTCAGGGCCCCTCCCTGAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCGTCACAGATGGGCCTGCGACAGGGCATGCTCCTGGGGACTGGGGTGCACCCCCCTACCTTCTCATCACGGACGTCATCTGAGTTGGTGGAGGCGGGCTTCTCCATGGCCACCAGACACAGCATCTGCAGTAGGTGGTTCTGCATCACGTCCCTGGGGACGGAAGAGGCCAGAGCTCGCCTTAGCTCCCCGCCCTGTTCACCTGGTTCAAGGGCATGGGGACCCCAAACAAGGCTTCCTAGTGACAAGCTGCAAGACTCACTTCCTGATCCCCCTTGTCTTCCAGGTCCCCTTAAATCAAGGAAGGACATGGTGATGCTATCACTGAATCATAAAACCGTGGGGTGCTTGGCTGTGTAGGGGTCCAGCCCTTTCCAGCCCGGTCTGATAGCTCAGACACTTAGGTTTTGAACTGCAGGGTGAGGAGGAGCTCCCCCAAGATAGGGAAGAGTAGCCCTGCAGGGTGACTGGCTCTGCCACCCTGTGCCAGCCTCCCAGGAGAGAGGAAGAGCTCTCACCGGATGATCCCAAATTCATCGAAATAGCCCCCGCGACCCTCAGTGCCAAAGGGCTCCTTGAAGGTGAGGATAACGCAGGCGATGTTGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCCCCACCCTGGTCCCCCGGCCCAGGCTTGGCCCCACCTCAGCACCATGAGGTTCTGCACCATCTCCTTGCCCAGGTAGTGGTCGATGCGGTAGATCTGGTCCTCACGGAACAGGGAGGAGATGTGGTTGGACAGCCGGTCAGAGCTCTGCAGGTCCCTCCCGAAGGGCTTCTCCACGATGATGCGGTTCCAGCCTCTGCTGGGAGCCCGGAGCTGCGTTACCCCCTTGAACCCCTCTTCGGGGAGTGAGGATCAGAGCTGCATCATTCAGACGCCCTCCCAGGGGAGTAGAGGCCAGAACCTCCTCGCCCCCGTGGCCACCTCCCGTGCCTTGTGTTCCCAGATGACCCTCTGGCTCAACACCTTCCGGGAAGCCTTCCCACCCTGGGTGCCAGGGTGGCATTGCTGGCATGCTGCCGGGGGCCCGTTCCCCTCCTGCCTCATGCTGGGTCCCCGGTGGGTCTGAGTGGCCTGAAGGCCTGTAGGGGAGCAGGGGGAGGAGGCATCCAAGCCATGGCTTCCTCATTGGTTTTGAAAATGAGAAGAGGACCTTTGCTTTACTACCCCCGCATTCAAAACCAGCCAGAGGACAAGAGCCTCTGGCTGGGTTGGGAAACCACCCAGCGCGGGCCATGCTGCATTCGCAGAGCAAGGCTGCCACCCTGCGGCCTGGCCGGGCCTTTGGGGAAGCAGAGCGGAAAGGCGGTGTTTCGTGGAGCAACGCTGCCACCTTGTGGTCCCGCTGGGGATGGCCCCGGCACCATGGATGCTGCCCAGATCCCCGGCCCCGGACACGCTCATAGAGTGGTGGGAGCACTGCCTGGGCCAGCCTGGCAGGCGGGAAGGGAGGGCAACGGCAAGCCTTACATCTGGCTCATGCAGGACTCGTGAATGTTCTTGGTGACGGCCTCGTAGACGGTCGGGGGCAAGGCCAGGTAGAAGAGGCGGTTGGCCTGTGACCCCAGGTGGAGGGCATTCATGTGGCTGTTGAGGCGCTGGTAGGAGGCTGCATCATCGTACTGGCCAGCCACATAGGAGTTGCGGGCAAAGAAGTCCTCCAGCTTGAGCTTCTCCTCTGGGGTGGCCTGGGAGACACGGACAGACAGACACACAGACAGATGTCAGCCCCTCTCTTTGAGTCCGTGTGTGTTCTGCCCCAGGGGAGTGGAGGGTCTTCCCTGGAGGTCCAGGGAGGGTGCCCTCAGAAGTCAGTGTCCCCGTCCCACACTGGGTTCAGCCCCATCTTAGCAGCTCTGCACATCCAGAGGGAGGGAGGCCAAAGCAGGCAGCACAGACACTGCCCCAGGCTGGGA | benign | 342,419 |
A genetic variant at chromosome X, position 154534164, affecting gene G6PD (glucose-6-phosphate dehydrogenase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTTCCTCACCTGCCATAAATATAGGGGATGGGCTTGGGCTTCTCCAGCTCAATCTGGTGCAGCAGTGGGGTGAAAATACGCCAGGCCTCACGGAGCTCGTCGCTGAGGGGACATGGTATGGCTTGGGAGGCCGGTGGCACACAGGGAGGGAGGGCAAAGGCCACCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCTCGTTGGGCTGCACGCGGATCACCAGCTCGTTGCGCTTGCACTGCTGGTGGAAGATGTCGCCGGCCACATCATGGAACTGCAGCCTCACCTCGGCCTTGCGCTCGTTCAGGGCCTTGCCGCAGCGCAGGATGAAGGGCACCCCTACGTGGCGGAAAGGGCAGCCTCAGCACCAGCTCTCTCAGGGTGTGGACCAGTGCGTGAGTGTCTCAGTGGGAGCTCCAGTGCCCGCACACAGGGCATGCCCAGTTCTGCCTTGCTGGGCCTCGAAGGCATCACCTACCATCCCACCTCTCATTCTCCACATAGAGGACGACGGCTGCAAAAGTGGCGGTGGTGGACCCGCGGGGCACCGTGGGGTCGTCCAGGTACCCTTTGGTGGCCTCGCCCTCTCCATCGGGGTTCCCCACGTACTGGCCCAGGACCACATTGTTGGCCTGCACCTCTGAGATGCATTTCAACACCTTGACCTGAGAGAAAGCCAAGGGAGAGAATGGGCTCCTTGGGTGTTGAGTTGGGGTGCAGGGATGACTGTGGCCACAGATGTGCAGCCCTCAGGGCAGGAGGAGGCCCCTGCTTGGCTCTGCTCACCCTGCCAGAGGCCCAGCTCAGGGCCCCTCCCTGAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCGTCACAGATGGGCCTGCGACAGGGCATGCTCCTGGGGACTGGGGTGCACCCCCTACCTTCTCATCACGGACGTCATCTGAGTTGGTGGAGGCGGGCTTCTCCATGGCCACCAGACACAGCATCTGCAGTAGGTGGTTCTGCATCACGTCCCTGGGGACGGAAGAGGCCAGAGCTCGCCTTAGCTCCCCGCCCTGTTCACCTGGTTCAAGGGCATGGGGACCCCAAACAAGGCTTCCTAGTGACAAGCTGCAAGACTCACTTCCTGATCCCCCTTGTCTTCCAGGTCCCCTTAAATCAAGGAAGGACATGGTGATGCTATCACTGAATCATAAAACCGTGGGGTGCTTGGCTGTGTAGGGGTCCAGCCCTTTCCAGCCCGGTCTGATAGCTCAGACACTTAGGTTTTGAACTGCAGGGTGAGGAGGAGCTCCCCCAAGATAGGGAAGAGTAGCCCTGCAGGGTGACTGGCTCTGCCACCCTGTGCCAGCCTCCCAGGAGAGAGGAAGAGCTCTCACCGGATGATCCCAAATTCATCGAAATAGCCCCCGCGACCCTCAGTGCCAAAGGGCTCCTTGAAGGTGAGGATAACGCAGGCGATGTTGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCCCCACCCTGGTCCCCCGGCCCAGGCTTGGCCCCACCTCAGCACCATGAGGTTCTGCACCATCTCCTTGCCCAGGTAGTGGTCGATGCGGTAGATCTGGTCCTCACGGAACAGGGAGGAGATGTGGTTGGACAGCCGGTCAGAGCTCTGCAGGTCCCTCCCGAAGGGCTTCTCCACGATGATGCGGTTCCAGCCTCTGCTGGGAGCCCGGAGCTGCGTTACCCCCTTGAACCCCTCTTCGGGGAGTGAGGATCAGAGCTGCATCATTCAGACGCCCTCCCAGGGGAGTAGAGGCCAGAACCTCCTCGCCCCCGTGGCCACCTCCCGTGCCTTGTGTTCCCAGATGACCCTCTGGCTCAACACCTTCCGGGAAGCCTTCCCACCCTGGGTGCCAGGGTGGCATTGCTGGCATGCTGCCGGGGGCCCGTTCCCCTCCTGCCTCATGCTGGGTCCCCGGTGGGTCTGAGTGGCCTGAAGGCCTGTAGGGGAGCAGGGGGAGGAGGCATCCAAGCCATGGCTTCCTCATTGGTTTTGAAAATGAGAAGAGGACCTTTGCTTTACTACCCCCGCATTCAAAACCAGCCAGAGGACAAGAGCCTCTGGCTGGGTTGGGAAACCACCCAGCGCGGGCCATGCTGCATTCGCAGAGCAAGGCTGCCACCCTGCGGCCTGGCCGGGCCTTTGGGGAAGCAGAGCGGAAAGGCGGTGTTTCGTGGAGCAACGCTGCCACCTTGTGGTCCCGCTGGGGATGGCCCCGGCACCATGGATGCTGCCCAGATCCCCGGCCCCGGACACGCTCATAGAGTGGTGGGAGCACTGCCTGGGCCAGCCTGGCAGGCGGGAAGGGAGGGCAACGGCAAGCCTTACATCTGGCTCATGCAGGACTCGTGAATGTTCTTGGTGACGGCCTCGTAGACGGTCGGGGGCAAGGCCAGGTAGAAGAGGCGGTTGGCCTGTGACCCCAGGTGGAGGGCATTCATGTGGCTGTTGAGGCGCTGGTAGGAGGCTGCATCATCGTACTGGCCAGCCACATAGGAGTTGCGGGCAAAGAAGTCCTCCAGCTTGAGCTTCTCCTCTGGGGTGGCCTGGGAGACACGGACAGACAGACACACAGACAGATGTCAGCCCCTCTCTTTGAGTCCGTGTGTGTTCTGCCCCAGGGGAGTGGAGGGTCTTCCCTGGAGGTCCAGGGAGGGTGCCCTCAGAAGTCAGTGTCCCCGTCCCACACTGGGTTCAGCCCCATCTTAGCAGCTCTGCACATCCAGAGGGAGGGAGGCCAAAGCAGGCAGCACAGACACTGCCCCAGGCTGGGACCCCTGTGCCTTAGGACAGAGGCCAGATTTCAGGATATTTTGACCTGGGAGAAATACACTGGAGAAAGCTCTCTCTCCAAAATCATGACACCCAACTATGATTGGCGGAGAAAACGCAGCAGAGCACAGCAGGAGGGGACCTGTGGGTCCTGGTCACGGGGGCTGGTAATGGGGGTCTCAAGGAAGTACGAGAGCAGGCGGGGCGGGGCAGGAGAGGAGGAGAGCATCCCGGGATGGGATGGGGGGAGGTCCCCGAAGCTGGCCATGCTGGGGGCTGGTAGAGAGGGCAGAACCAGGCTGGGGGAGGCCCTGACACCACCCACCTTGAAGAAGGGCTCACTCTGTTTGCGGATGTCAGCCACTGTGAGGCGGGAACGGGCATAGCCCACGATGAAGGTGTTTTCGGGCAGAAGGCCATCCCGGAACAGCCACCTGAGGGCAGGGCACAGCTGTAACCAGTGCGGGCAGGGCAGGACCAGGCCTGTCCCTGGCGGGAGGTCACAGGGGCAGTGGTGGGACACACTTACCAGATGGTGGGGTAGATCTTCTTCTTGGCCAGGTCACCCTGTGGCAGAGGGAACAGGTGTGTGGTTAGAAG | GCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTTCCTCACCTGCCATAAATATAGGGGATGGGCTTGGGCTTCTCCAGCTCAATCTGGTGCAGCAGTGGGGTGAAAATACGCCAGGCCTCACGGAGCTCGTCGCTGAGGGGACATGGTATGGCTTGGGAGGCCGGTGGCACACAGGGAGGGAGGGCAAAGGCCACCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCTCGTTGGGCTGCACGCGGATCACCAGCTCGTTGCGCTTGCACTGCTGGTGGAAGATGTCGCCGGCCACATCATGGAACTGCAGCCTCACCTCGGCCTTGCGCTCGTTCAGGGCCTTGCCGCAGCGCAGGATGAAGGGCACCCCTACGTGGCGGAAAGGGCAGCCTCAGCACCAGCTCTCTCAGGGTGTGGACCAGTGCGTGAGTGTCTCAGTGGGAGCTCCAGTGCCCGCACACAGGGCATGCCCAGTTCTGCCTTGCTGGGCCTCGAAGGCATCACCTACCATCCCACCTCTCATTCTCCACATAGAGGACGACGGCTGCAAAAGTGGCGGTGGTGGACCCGCGGGGCACCGTGGGGTCGTCCAGGTACCCTTTGGTGGCCTCGCCCTCTCCATCGGGGTTCCCCACGTACTGGCCCAGGACCACATTGTTGGCCTGCACCTCTGAGATGCATTTCAACACCTTGACCTGAGAGAAAGCCAAGGGAGAGAATGGGCTCCTTGGGTGTTGAGTTGGGGTGCAGGGATGACTGTGGCCACAGATGTGCAGCCCTCAGGGCAGGAGGAGGCCCCTGCTTGGCTCTGCTCACCCTGCCAGAGGCCCAGCTCAGGGCCCCTCCCTGAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCGTCACAGATGGGCCTGCGACAGGGCATGCTCCTGGGGACTGGGGTGCACCCCCTACCTTCTCATCACGGACGTCATCTGAGTTGGTGGAGGCGGGCTTCTCCATGGCCACCAGACACAGCATCTGCAGTAGGTGGTTCTGCATCACGTCCCTGGGGACGGAAGAGGCCAGAGCTCGCCTTAGCTCCCCGCCCTGTTCACCTGGTTCAAGGGCATGGGGACCCCAAACAAGGCTTCCTAGTGACAAGCTGCAAGACTCACTTCCTGATCCCCCTTGTCTTCCAGGTCCCCTTAAATCAAGGAAGGACATGGTGATGCTATCACTGAATCATAAAACCGTGGGGTGCTTGGCTGTGTAGGGGTCCAGCCCTTTCCAGCCCGGTCTGATAGCTCAGACACTTAGGTTTTGAACTGCAGGGTGAGGAGGAGCTCCCCCAAGATAGGGAAGAGTAGCCCTGCAGGGTGACTGGCTCTGCCACCCTGTGCCAGCCTCCCAGGAGAGAGGAAGAGCTCTCACCGGATGATCCCAAATTCATCGAAATAGCCCCCGCGACCCTCAGTGCCAAAGGGCTCCTTGAAGGTGAGGATAACGCAGGCGATGTTGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCCCCACCCTGGTCCCCCGGCCCAGGCTTGGCCCCACCTCAGCACCATGAGGTTCTGCACCATCTCCTTGCCCAGGTAGTGGTCGATGCGGTAGATCTGGTCCTCACGGAACAGGGAGGAGATGTGGTTGGACAGCCGGTCAGAGCTCTGCAGGTCCCTCCCGAAGGGCTTCTCCACGATGATGCGGTTCCAGCCTCTGCTGGGAGCCCGGAGCTGCGTTACCCCCTTGAACCCCTCTTCGGGGAGTGAGGATCAGAGCTGCATCATTCAGACGCCCTCCCAGGGGAGTAGAGGCCAGAACCTCCTCGCCCCCGTGGCCACCTCCCGTGCCTTGTGTTCCCAGATGACCCTCTGGCTCAACACCTTCCGGGAAGCCTTCCCACCCTGGGTGCCAGGGTGGCATTGCTGGCATGCTGCCGGGGGCCCGTTCCCCTCCTGCCTCATGCTGGGTCCCCGGTGGGTCTGAGTGGCCTGAAGGCCTGTAGGGGAGCAGGGGGAGGAGGCATCCAAGCCATGGCTTCCTCATTGGTTTTGAAAATGAGAAGAGGACCTTTGCTTTACTACCCCCGCATTCAAAACCAGCCAGAGGACAAGAGCCTCTGGCTGGGTTGGGAAACCACCCAGCGCGGGCCATGCTGCATTCGCAGAGCAAGGCTGCCACCCTGCGGCCTGGCCGGGCCTTTGGGGAAGCAGAGCGGAAAGGCGGTGTTTCGTGGAGCAACGCTGCCACCTTGTGGTCCCGCTGGGGATGGCCCCGGCACCATGGATGCTGCCCAGATCCCCGGCCCCGGACACGCTCATAGAGTGGTGGGAGCACTGCCTGGGCCAGCCTGGCAGGCGGGAAGGGAGGGCAACGGCAAGCCTTACATCTGGCTCATGCAGGACTCGTGAATGTTCTTGGTGACGGCCTCGTAGACGGTCGGGGGCAAGGCCAGGTAGAAGAGGCGGTTGGCCTGTGACCCCAGGTGGAGGGCATTCATGTGGCTGTTGAGGCGCTGGTAGGAGGCTGCATCATCGTACTGGCCAGCCACATAGGAGTTGCGGGCAAAGAAGTCCTCCAGCTTGAGCTTCTCCTCTGGGGTGGCCTGGGAGACACGGACAGACAGACACACAGACAGATGTCAGCCCCTCTCTTTGAGTCCGTGTGTGTTCTGCCCCAGGGGAGTGGAGGGTCTTCCCTGGAGGTCCAGGGAGGGTGCCCTCAGAAGTCAGTGTCCCCGTCCCACACTGGGTTCAGCCCCATCTTAGCAGCTCTGCACATCCAGAGGGAGGGAGGCCAAAGCAGGCAGCACAGACACTGCCCCAGGCTGGGACCCCTGTGCCTTAGGACAGAGGCCAGATTTCAGGATATTTTGACCTGGGAGAAATACACTGGAGAAAGCTCTCTCTCCAAAATCATGACACCCAACTATGATTGGCGGAGAAAACGCAGCAGAGCACAGCAGGAGGGGACCTGTGGGTCCTGGTCACGGGGGCTGGTAATGGGGGTCTCAAGGAAGTACGAGAGCAGGCGGGGCGGGGCAGGAGAGGAGGAGAGCATCCCGGGATGGGATGGGGGGAGGTCCCCGAAGCTGGCCATGCTGGGGGCTGGTAGAGAGGGCAGAACCAGGCTGGGGGAGGCCCTGACACCACCCACCTTGAAGAAGGGCTCACTCTGTTTGCGGATGTCAGCCACTGTGAGGCGGGAACGGGCATAGCCCACGATGAAGGTGTTTTCGGGCAGAAGGCCATCCCGGAACAGCCACCTGAGGGCAGGGCACAGCTGTAACCAGTGCGGGCAGGGCAGGACCAGGCCTGTCCCTGGCGGGAGGTCACAGGGGCAGTGGTGGGACACACTTACCAGATGGTGGGGTAGATCTTCTTCTTGGCCAGGTCACCCTGTGGCAGAGGGAACAGGTGTGTGGTTAGAAGNNNN | benign | 342,431 |
Does the variant impacting IKBKG on chromosome X, position 154545836, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GGTTCAAGCGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGATGGGTGCCACTACACCTAACTAATTTTTGTTATTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAATGCAGTGTTGCGATTTCTGCTCACTGCAAGCTCCGCCTCCCGAGTTCACGCCTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGACTACAGGTGCCCACACCAGGCCTGGCTAATTTTTTATTTAGTAGAGACGGGATTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCACCCGCTTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGCCCGGCCTTTTTGTTTTGTTTTGTTTTGAGACAGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCTGACTCCCTGATTCAAGCGATTCTACTGCCTCAGCCTACTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCCACCTTGGCCCCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGCGCCCAGCCAATTTTTGTATTTTAAGTAGAGACTGGGTTTCGCCATGTTGGCCAGGCTGGTGTCAAACTCCTGACCTCAGGCGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGAATACAGGCGTGAGCCACCGTGCCCGGCCAGGTATGGCTCTTCTGAGGGGACCAGGCTGGGGCTGGGGCTGAGGCCAAGCCCAATCTACTGTGGGCTCCACCTGGTACCTCTCCTGGGTCTCAGGCTTATGGGGAGTCAGAGGACAATGGCCCCTCCTTACTCTGCCACTGGCAGAGCCCTTCTCCCTCGGCTGCCTCCTCATTCCCTTTTGGCTCTCCTTTTCTAAGTTCTGATCAGAAGTACAAAGGTGTCAAGGAGTAGGTTTGACAAAGTGTGACAGCGCGTTGTTCTATGTGAACAAAGAACCACTGAGCTCAGCCAGCACTGAGGGGCGCACGATGTGGAAGAACTAACTAGTTTTGATAGAGCTCCTGCTCAAGGTTACAAGGTAAGTTAATGGCAAAGATGGTCATACAGTAATGAGCAGAGAGATTCTTGAGTGCATCCAGGGTTAAAAGTGAAAACTGAGACCACGTGTAATTTGAGATGAAGCCCTTGTTCCACCAGCCCCTGCACAGTCTCACTGCCCCATGGGACACAGGGGAGGGTGCTCTAGTCTCGGGCGATGGCTGTCCTAGGACCACCCCTCCCTCCCCTCCCATGGAAATCCTCATGCTATACTATTCTTTTGTCTTTCCTATGAGTGCAGAATGGCGGTTCTACAAGCTGGACAATTGGGGCCAGGTGGGGTGAGGCAGAGCTCCTTGGTAGGCTTTCGAAATTGAGGCAAAGAGACAGTGTTCAAAGAAAAGCTAAGTGTTTGTATCGACGGAACTTGAAGTGTTAGTGAAGAGGCAGAGATCAGGCCTCAGATCCTGCCTTTGGAACTCATTTGTTAAGGCATGAACAGGTCTGAAAAAACTACAGAATGAATAGCATTCCCTGTTTTCCCCAAGAAGTCCATCTAGACAGTCCCTAAAGAGCCTGCAACTCCAGGATTAAGGGCTACATTCAGCGGCTAGGCACAGGGTTCAGAAACGTCCTGCAGCCGGGCGTGGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACTCCGTCTCTACTAACAATACAAAAATTAGCCGGGTGTGGTGGTGCATGCCTGTAATCTCAGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCCGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACCCCATCCTGGGCGACCAGAGCAAAACTCCGTCTCCAAAAAAAAAAAAAAAAAAAAGTCTTGCAAGTGCATATGCACACCAGGTAGAGCCGGGATGATCCTGGCGCACTAGCAGGAGCGGGAGGAGGAGCTCAACTTAGCAGAGCCTGTGGGGCCCTGCAACAATTAGTTGGAAAAGCTGAGGCATGGAGCAGGCACTTCCTGGCTTTTAAGATTGGGGCCTGGGAGATACTCACCGATGCACCCATGATGATGAATATGTGTGTATCCGACTGATGGAAGGCATCGCCCTGGAAAAGCTCTTCCCGCAGGATCCCGCACACCTGGGTCCGGCTCAGGGCCACCTGCTCTGCCATGACGCTGTCTGGTGGAAGAAAGGCTCGTTAACAAGGCAGAAGAACAGGAGAGCATTGAGAAGTTAGCCCCTTTCTTGAGAGTTCCTCTGGGGTCTCACACCAGGGTGACACCTGATTGCCCAAATCACTCCTTGTGAACGGCTGGGCATTGGGGAGTGGTTGATGGGTTAGAAACTGCTGGCTCTGGGCTCCAGCCACTCTCTCCTAGGCAGCCTTCATTCAGGGTGTACATTACAAAATTACTCAAAGCATTGGTGTATTCCGACTACAGCATCAATTCTGGACAACCGAGTAAAATCCTTGTGGGGCATGGAACTGCGTGCCCAGGACCATCTCATTCCCGACTGTAGCGGGAACTCCACAATGACCTGGAGCATGGGAGATGGTGCAGATGCTGGAGTTCAGCTCCAGCCCTCCCCTTGCCAAGCTGGGTGACCCCGGTCGGCAAGTCCCCTTCGCTCTCGGGGTCTCAGGGGCTCAAGAGAGGAGGTGCGGGGTATAAAGGGATTGGTTAAGACCCTCTCGATTCTGCTCGGTTCTCAAGCACAACAAACAGCGTGTATTTTACCGCCGCGCGGCGCAGCGCGGGACAGTACGCTCCTCCGCCTGCGCGGCGCCCGCCCGGCCGGTTACCTGCGCTTCGTCGTCGTCGCCCTCCGCGCTCGCAGCCCCGAAGTGTACGACCGTTTCCGGGGGCTGAGCCCCGCCGGCCCATTTAATCGGCGGGGGCGGGGGCGGGCGCCTGGGCTGAGCGGACCCGCCTCAGGCGAGGCGTGCGGGGCGGGGCCTCGGCCACCACCCCTCGTGCGGGCGGGGCGGGGCGAGGGCAGGTGCGCGCGCATCCCAGGCCAGCCCCTGCCTCTCGGGCACCTGCGCTGGAGGCCGGCCCGCCGGCTGCCTGCCATACCCGCTGCCGCTGCTCTGCATCCCCAATTCCGGCGGGCACGGGTGCAGCTCCGCGTAGTGCTCCCGCATCCCCATCGCCGGCCCGGCCCCGCCCCTACTGTCCGGTTTCCCCGCCTGCCCCGGCGGCCTCGCGCGCTCGCGGAGGGCTCCACTTCCGCCGGCAGCGTGGCCACGCCTCCTCTGGGCTGTCCCTCGGCTCCTGGGCGGGGCCTTCTGCCGCGCCACTCCCCCGGGAACCCTCGCCTGTTCGCGGGTCAAGCCGGCCCTATTGGGCAGTCTCTTCTTGATTCCTCCCCCGGAGAGGGCGGGGCGGCCGAGCGCCCCGAGGCTAGACGCCGCCGTCCGAGAGACGAGGGGGCGTGTAGGCGGTGACGCCCTGCAAAGTGGCCGGCGTGCTTATCATTACCGAGCTTCCGCGGGCCTGCAGAGCCTGGCGGACTCAGACTTCTCTCCGGAGCGGGATGCGGCCCTACCGCGGCCTCACACTTCTCGCCGGCTTCCCGAGTTCTCGGGGGCGGGGCTTGTGTTTTTACTTCCGGATCCCACAGCTATGACACCGGAAGCCGGAAGCGTGGTAGGGAAGGGCGACCGCGAAACTGGGACTTTCTCGGAGCGCCGGGGCCCTACCAGCGTTCACAGTCCGCCGCTCCCACCCTTCTCACGTCTGACGGACTCTGCTGACAGGTGTGGTCCTTTTCCCCAAAGACAGGGTTCCATCCGTGGGCGTTCCGCCGCCTCCGAAACTTCCCCCGGACGTTCAGGCTCCCCCCTCTTTTTTGGGCCCCAGCCCGTTCCTGCTCCGCGCTTCTGGAGCACTGGCCA | GGTTCAAGCGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGATGGGTGCCACTACACCTAACTAATTTTTGTTATTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAATGCAGTGTTGCGATTTCTGCTCACTGCAAGCTCCGCCTCCCGAGTTCACGCCTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGACTACAGGTGCCCACACCAGGCCTGGCTAATTTTTTATTTAGTAGAGACGGGATTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCACCCGCTTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGCCCGGCCTTTTTGTTTTGTTTTGTTTTGAGACAGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCTGACTCCCTGATTCAAGCGATTCTACTGCCTCAGCCTACTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCCACCTTGGCCCCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGCGCCCAGCCAATTTTTGTATTTTAAGTAGAGACTGGGTTTCGCCATGTTGGCCAGGCTGGTGTCAAACTCCTGACCTCAGGCGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGAATACAGGCGTGAGCCACCGTGCCCGGCCAGGTATGGCTCTTCTGAGGGGACCAGGCTGGGGCTGGGGCTGAGGCCAAGCCCAATCTACTGTGGGCTCCACCTGGTACCTCTCCTGGGTCTCAGGCTTATGGGGAGTCAGAGGACAATGGCCCCTCCTTACTCTGCCACTGGCAGAGCCCTTCTCCCTCGGCTGCCTCCTCATTCCCTTTTGGCTCTCCTTTTCTAAGTTCTGATCAGAAGTACAAAGGTGTCAAGGAGTAGGTTTGACAAAGTGTGACAGCGCGTTGTTCTATGTGAACAAAGAACCACTGAGCTCAGCCAGCACTGAGGGGCGCACGATGTGGAAGAACTAACTAGTTTTGATAGAGCTCCTGCTCAAGGTTACAAGGTAAGTTAATGGCAAAGATGGTCATACAGTAATGAGCAGAGAGATTCTTGAGTGCATCCAGGGTTAAAAGTGAAAACTGAGACCACGTGTAATTTGAGATGAAGCCCTTGTTCCACCAGCCCCTGCACAGTCTCACTGCCCCATGGGACACAGGGGAGGGTGCTCTAGTCTCGGGCGATGGCTGTCCTAGGACCACCCCTCCCTCCCCTCCCATGGAAATCCTCATGCTATACTATTCTTTTGTCTTTCCTATGAGTGCAGAATGGCGGTTCTACAAGCTGGACAATTGGGGCCAGGTGGGGTGAGGCAGAGCTCCTTGGTAGGCTTTCGAAATTGAGGCAAAGAGACAGTGTTCAAAGAAAAGCTAAGTGTTTGTATCGACGGAACTTGAAGTGTTAGTGAAGAGGCAGAGATCAGGCCTCAGATCCTGCCTTTGGAACTCATTTGTTAAGGCATGAACAGGTCTGAAAAAACTACAGAATGAATAGCATTCCCTGTTTTCCCCAAGAAGTCCATCTAGACAGTCCCTAAAGAGCCTGCAACTCCAGGATTAAGGGCTACATTCAGCGGCTAGGCACAGGGTTCAGAAACGTCCTGCAGCCGGGCGTGGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACTCCGTCTCTACTAACAATACAAAAATTAGCCGGGTGTGGTGGTGCATGCCTGTAATCTCAGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCCGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACCCCATCCTGGGCGACCAGAGCAAAACTCCGTCTCCAAAAAAAAAAAAAAAAAAAAAGTCTTGCAAGTGCATATGCACACCAGGTAGAGCCGGGATGATCCTGGCGCACTAGCAGGAGCGGGAGGAGGAGCTCAACTTAGCAGAGCCTGTGGGGCCCTGCAACAATTAGTTGGAAAAGCTGAGGCATGGAGCAGGCACTTCCTGGCTTTTAAGATTGGGGCCTGGGAGATACTCACCGATGCACCCATGATGATGAATATGTGTGTATCCGACTGATGGAAGGCATCGCCCTGGAAAAGCTCTTCCCGCAGGATCCCGCACACCTGGGTCCGGCTCAGGGCCACCTGCTCTGCCATGACGCTGTCTGGTGGAAGAAAGGCTCGTTAACAAGGCAGAAGAACAGGAGAGCATTGAGAAGTTAGCCCCTTTCTTGAGAGTTCCTCTGGGGTCTCACACCAGGGTGACACCTGATTGCCCAAATCACTCCTTGTGAACGGCTGGGCATTGGGGAGTGGTTGATGGGTTAGAAACTGCTGGCTCTGGGCTCCAGCCACTCTCTCCTAGGCAGCCTTCATTCAGGGTGTACATTACAAAATTACTCAAAGCATTGGTGTATTCCGACTACAGCATCAATTCTGGACAACCGAGTAAAATCCTTGTGGGGCATGGAACTGCGTGCCCAGGACCATCTCATTCCCGACTGTAGCGGGAACTCCACAATGACCTGGAGCATGGGAGATGGTGCAGATGCTGGAGTTCAGCTCCAGCCCTCCCCTTGCCAAGCTGGGTGACCCCGGTCGGCAAGTCCCCTTCGCTCTCGGGGTCTCAGGGGCTCAAGAGAGGAGGTGCGGGGTATAAAGGGATTGGTTAAGACCCTCTCGATTCTGCTCGGTTCTCAAGCACAACAAACAGCGTGTATTTTACCGCCGCGCGGCGCAGCGCGGGACAGTACGCTCCTCCGCCTGCGCGGCGCCCGCCCGGCCGGTTACCTGCGCTTCGTCGTCGTCGCCCTCCGCGCTCGCAGCCCCGAAGTGTACGACCGTTTCCGGGGGCTGAGCCCCGCCGGCCCATTTAATCGGCGGGGGCGGGGGCGGGCGCCTGGGCTGAGCGGACCCGCCTCAGGCGAGGCGTGCGGGGCGGGGCCTCGGCCACCACCCCTCGTGCGGGCGGGGCGGGGCGAGGGCAGGTGCGCGCGCATCCCAGGCCAGCCCCTGCCTCTCGGGCACCTGCGCTGGAGGCCGGCCCGCCGGCTGCCTGCCATACCCGCTGCCGCTGCTCTGCATCCCCAATTCCGGCGGGCACGGGTGCAGCTCCGCGTAGTGCTCCCGCATCCCCATCGCCGGCCCGGCCCCGCCCCTACTGTCCGGTTTCCCCGCCTGCCCCGGCGGCCTCGCGCGCTCGCGGAGGGCTCCACTTCCGCCGGCAGCGTGGCCACGCCTCCTCTGGGCTGTCCCTCGGCTCCTGGGCGGGGCCTTCTGCCGCGCCACTCCCCCGGGAACCCTCGCCTGTTCGCGGGTCAAGCCGGCCCTATTGGGCAGTCTCTTCTTGATTCCTCCCCCGGAGAGGGCGGGGCGGCCGAGCGCCCCGAGGCTAGACGCCGCCGTCCGAGAGACGAGGGGGCGTGTAGGCGGTGACGCCCTGCAAAGTGGCCGGCGTGCTTATCATTACCGAGCTTCCGCGGGCCTGCAGAGCCTGGCGGACTCAGACTTCTCTCCGGAGCGGGATGCGGCCCTACCGCGGCCTCACACTTCTCGCCGGCTTCCCGAGTTCTCGGGGGCGGGGCTTGTGTTTTTACTTCCGGATCCCACAGCTATGACACCGGAAGCCGGAAGCGTGGTAGGGAAGGGCGACCGCGAAACTGGGACTTTCTCGGAGCGCCGGGGCCCTACCAGCGTTCACAGTCCGCCGCTCCCACCCTTCTCACGTCTGACGGACTCTGCTGACAGGTGTGGTCCTTTTCCCCAAAGACAGGGTTCCATCCGTGGGCGTTCCGCCGCCTCCGAAACTTCCCCCGGACGTTCAGGCTCCCCCCTCTTTTTTGGGCCCCAGCCCGTTCCTGCTCCGCGCTTCTGGAGCACTGGCC | benign | 342,467 |
Chromosome X, position 154560403, gene IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Incontinentia_pigmenti_syndrome'] | GGCCCTTGGGCTCATGAGGCCCTAGGGCACCCAGGTTTGGGGGTGCCGAGGGCAGGAAAAAAGGCCTCATGGCGCGCAGGCCTCAGCCGCTTGCGGGTTGCCCCGGGCTTGCGGATGGCAGGAGTGGGCCGCTGGGGAGAAAGCAGTGCTGACAGGAAGTGGCTTTTTATCCTGCAGCAGATGGCTGAGGACAAGGCCTCTGTGAAAGCCCAGGTGACGTCCTTGCTCGGGGAGCTGCAGGAGAGCCAGAGTCGCTTGGAGGCTGCCACTAAGGAATGCCAGGCTCTGGAGGGTCGGTGAGTCGGGGGAGCCGGCTCCGGAGACCCCTTCCAGGGTTTCCAAAAGCAATGAGGTGGGTTTAGGGGCCTCCAGGGTGCTCCTTGATGAGGATAGACCGGGGCAGGCTGCGTAAAGACGTCGGGGCAGACGTCGGGAGAGGTCTGGGCCAGGCATCCGGGACCTGGGTCCCAGCCGGCTCTCCGCACTCTGTGACCCTTTGATGGAGTTTGGATTATTTCCTTAGGAGGCATTCTGGGGGCCCCGAGCCCACACCCACAGTGTCTAGTTCTCTGGAAGGACTTCTGGGACCGGCGCACAGTCGCCCTCGTGGCTGAGGTTGATGACAGGGAAAAAGGCACAGGGCAGGAGCCGCCAGGGCAGGAGCCGTGGGGGGAGTTGGAGAAGCCCTGTCCCAGCCTCCCGCTGCCCTGCGAGCGGCACAGTGAGAAGCGCCTCCCACACGGGCCGTGTTCCTGCCCAGGGATGCCCGCTAGAGACTCAGCGCCCTGGGTGTTTACTGGGGGCAGGTCCTGTCAGCGCCCTCTGCCAGGCAGGTACCTAAATCCCCGACTCCCAGCAGCAGAGCGGGTGCTCACGTCAACCACGTTCTTCCTACAAATGGCCTAGGTGCAGGGACCGACCTGACCACTAGAGAAAGTGTCACTGTGGCAAGGGAACTTCACCAGCCAAGGGCCAACCTTGCCAGCCGGTGGCCTCAGGCCTGCTGGTTACTCTCTTTTGCAAAGGGGTCTTGGTTCTTGTGAGTGGGACCATTGGGTCAAAGGGCAGGGAGGTTTCTGTGGTTCTCATTCGGTCCTGCTTCTGCCCTCCAGACAGATGGATCAGCTGCCAGGGGGGCCCCAGCCATCCCAGCACAGTAGGCGGTCAAGGTGCACTTGGGGCAGCCAGCAGGGCAGAGGGGAGGGGAGCTTGACCCAGGCTCTGATGGGCAGAGGGAACCCGTGCAGGGTGTGGGGGCAGTATGCAGGCAGGCGCGGAGGGGAGAGCCAAGCAGCCAGGCCTGCCAGGCAGAGTTGGGGTGACTGGAGAAGGGCCGTGTCTGCCTGTGGCCAGAGGCCACCCAGGACCTGGACAGATGCACCCACCATTGTCCCTGCAGTGAGGCTGTGGAAGGGCTTGGTGTGGTGGGATGAGGCCAGACCCTGGAAACTGGAGGTTAAGGGAGCTGTAGGGGGGCAGGTGTGGGAACTGAGCATCCGAGCAGGTCGTCTGGGACTCCAGCAGAGCTCTGGGCAGCAGCAGGGATGGGGCCGAGGCCCGGTCTGCATTGAGCTCAGTGCTTGCACGCCCAGGTGGGCAGTCTCTCATTTTTGGAACAGCAGTCTCTCCTGACCCCCTCCACTGAGACTGCTTTTGCTGGGGCCCCCAGCAGTCCCCCAGTGGAACTCCACGGGCAGTTCCGAGGGCTCCTCTCACCTGGCCCCAGCACTGCGGGATGCAGGCGACCCCATCCTTTTCTCGGACCACCCCCTTCCCCTGGCTTCCAGGTCTCCTTGCCATCTGTACTTGGTCACCTGCTGGGCCCCTGCATTGAAGCAAACACGTCTTAAGCAAAGCTCCTCACCTGCTGCTCCCACCTGGCCCCCTGCAGTTGTCCTCGTGTCTGTTGACGGTGCCTCCACCCTGCCGCCTGGCATCAGCTCGCAGTCACAGGGTGTTCAGAGCCGACCCCCACCCCCCGCCCACGCCCTGCGCATAGCCCCTGCCGTCCCCCCGTTCGTCCTCCCTGAGTCTGCTCTTTCCCCGTGCCAGGGCCCGGGCGGCCAGCGAGCAGGCGCGGCAGCTGGAGAGTGAGCGCGAGGCGCTGCAGCAGCAGCACAGCGTGCAGGTGGACCAGCTGCGCATGCAGGGCCAGAGCGTGGAGGCCGCGCTCCGCATGGAGCGCCAGGCCGCCTCGGAGGAGAAGTGAGTCAGCGGGGGCGGGGCCGCACCGCAGGGTCTGTGGTTCTACACTTGATCTTAGCCGAAAGGCTGAGAAGTGTCGGGTCCATGGTTCTTTCTGCCTTCTGAGGACTCCTTCAGATTCTGCCTGTGGCTGTGGGCCCATTCTGTCCCTTAGCCTTGCTAACGGTAGAGGCGACCATGATGACACCCGGTTTGTCTTTGATACAGTCATGCCATCTGCTCTCCAGACCACGTTTCACTGCGTGTCCACACGTGGCCTTTTTTGTAGTTTTTTTTTCCTAGCCACTAGGTCATCAGGGGACTTGTCCTTTAAAACCCCTTCTAGGCCAGGTGCTGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAAGTGGGTAGATGGCTTAAGCCCGGGAGTTCCAAGACCAGCCTGGGCAACAGAAAGACAACAAAAATACCCCCAAACCCCCCCGTCTACCAGCATCCAATCTGGGACCTCAGGTTCCTGTCCTTGGCGTGCCTTTTCAGTCTCCTTTAATCTAGAACAGTTCCCCTGCCTTTCTGAGCTGTTTGTGAAGTTCACAGTTTTGAACAGTGCAGGGTAGTTCCATTGTATTATTACTATTATTTTCAAGACAGGGTCTTGCTCTACCGTCCAGGCTGGAGTGCAGTGGCATAATCTCGGCTTACTGTACCTTCCGCCTCTTGGTCTCAAGCGATCCTCCCAGGTAGCTGGGACTATAGGCGCAGGCCAGCACACCTGGCTAATTTTTGCATTTTTGGTAGAGGTGGCGTTTTCCTATGTTGCCCGGGCTGGTCTTGAACTCCTGAGCTCAAGCGATCCTCCTGCCTTGGCTTCTCAAAGTGTTGGGATTATGGGCGTGAGCCACCGCGTCTGGCCGCGATTTTATTATAAACATTAAAAATACTAGCTTTTAGGAAAACGATATTAACTGCCTGGTGACCAGCCCACCAAAGCCTGCTTTAGAGTTGACGGCCTCAGGAGTCCTCACACAGCCTTGGAAGACCCCATTCCAGGCCTGTGATGCGAGGGAGGGAAGGAAGGGGGTAGAGTTGGAAGCAGGCAGCACCGTGGCTGGACTGGCATGAGGTGGTTTCTCCAGCAAAAGCTCCCTTTCCTCAGGAGGAAGCTGGCCCAGTTGCAGGTGGCCTATCACCAGCTCTTCCAAGAATACGACAACCACATCAAGAGCAGCGTGGTGGGCAGTGAGCGGAAGCGAGTGAGTGCGACCACTGGGGCTCTAGGGCTGGCCTTGCCTCTTCCTCTCCCCGTGGCCCTGAACCTTGAGAATGGGTAGACCTGCCTTAGACTTGCCTTAGACCTGTGTCAGGCTGCAGCTGCGACAGCTCAGGGAAGCTGTGGGGAGATGGCAACCCCAGGATGTTGCTCTCAGGAGTGTCAGCAGGCCATCTTAATGGGGGGCTGGGCCAGAGCCTTGGGGTGCTCCCTCTGTGGGGCTGGGGACGTCTTGTCTCCATGGACATTCCCTCTTGCCAGCCATCGCCATCTGGCACCTGGCTCAGCTTCCCCCAAGCCAAGGTAAGCCCGACAGCATTTCCACCCCAGTGTTGGCTGGGAGCCTTTTCCTAGTTTGTCCTCATCAGACCTAAGCTGGGGTGCAGTTTGCTAGTGATCACATTTTAGCAGGACACCGTCAATCGTAAGTGTACCCAGAGGAGATTTATAAGGACAAAGCCTGAAGCCAGGTCACATGGGGAAGAGTTAGCTACAAAACTGGCCACTTAATCTCTGGAGGGGGGCGTTGGTGGGGTGTGTCTGTGTGTGTCTCAGGGGGCTGGAGATGCCTGCGTGGGAGGAGTGCACCTCTGACCAGGTGGCAGAGTGGAAGGACTGAGGGCTCTCAGCTGAGCTGTGCACATGGCGG | GGCCCTTGGGCTCATGAGGCCCTAGGGCACCCAGGTTTGGGGGTGCCGAGGGCAGGAAAAAAGGCCTCATGGCGCGCAGGCCTCAGCCGCTTGCGGGTTGCCCCGGGCTTGCGGATGGCAGGAGTGGGCCGCTGGGGAGAAAGCAGTGCTGACAGGAAGTGGCTTTTTATCCTGCAGCAGATGGCTGAGGACAAGGCCTCTGTGAAAGCCCAGGTGACGTCCTTGCTCGGGGAGCTGCAGGAGAGCCAGAGTCGCTTGGAGGCTGCCACTAAGGAATGCCAGGCTCTGGAGGGTCGGTGAGTCGGGGGAGCCGGCTCCGGAGACCCCTTCCAGGGTTTCCAAAAGCAATGAGGTGGGTTTAGGGGCCTCCAGGGTGCTCCTTGATGAGGATAGACCGGGGCAGGCTGCGTAAAGACGTCGGGGCAGACGTCGGGAGAGGTCTGGGCCAGGCATCCGGGACCTGGGTCCCAGCCGGCTCTCCGCACTCTGTGACCCTTTGATGGAGTTTGGATTATTTCCTTAGGAGGCATTCTGGGGGCCCCGAGCCCACACCCACAGTGTCTAGTTCTCTGGAAGGACTTCTGGGACCGGCGCACAGTCGCCCTCGTGGCTGAGGTTGATGACAGGGAAAAAGGCACAGGGCAGGAGCCGCCAGGGCAGGAGCCGTGGGGGGAGTTGGAGAAGCCCTGTCCCAGCCTCCCGCTGCCCTGCGAGCGGCACAGTGAGAAGCGCCTCCCACACGGGCCGTGTTCCTGCCCAGGGATGCCCGCTAGAGACTCAGCGCCCTGGGTGTTTACTGGGGGCAGGTCCTGTCAGCGCCCTCTGCCAGGCAGGTACCTAAATCCCCGACTCCCAGCAGCAGAGCGGGTGCTCACGTCAACCACGTTCTTCCTACAAATGGCCTAGGTGCAGGGACCGACCTGACCACTAGAGAAAGTGTCACTGTGGCAAGGGAACTTCACCAGCCAAGGGCCAACCTTGCCAGCCGGTGGCCTCAGGCCTGCTGGTTACTCTCTTTTGCAAAGGGGTCTTGGTTCTTGTGAGTGGGACCATTGGGTCAAAGGGCAGGGAGGTTTCTGTGGTTCTCATTCGGTCCTGCTTCTGCCCTCCAGACAGATGGATCAGCTGCCAGGGGGGCCCCAGCCATCCCAGCACAGTAGGCGGTCAAGGTGCACTTGGGGCAGCCAGCAGGGCAGAGGGGAGGGGAGCTTGACCCAGGCTCTGATGGGCAGAGGGAACCCGTGCAGGGTGTGGGGGCAGTATGCAGGCAGGCGCGGAGGGGAGAGCCAAGCAGCCAGGCCTGCCAGGCAGAGTTGGGGTGACTGGAGAAGGGCCGTGTCTGCCTGTGGCCAGAGGCCACCCAGGACCTGGACAGATGCACCCACCATTGTCCCTGCAGTGAGGCTGTGGAAGGGCTTGGTGTGGTGGGATGAGGCCAGACCCTGGAAACTGGAGGTTAAGGGAGCTGTAGGGGGGCAGGTGTGGGAACTGAGCATCCGAGCAGGTCGTCTGGGACTCCAGCAGAGCTCTGGGCAGCAGCAGGGATGGGGCCGAGGCCCGGTCTGCATTGAGCTCAGTGCTTGCACGCCCAGGTGGGCAGTCTCTCATTTTTGGAACAGCAGTCTCTCCTGACCCCCTCCACTGAGACTGCTTTTGCTGGGGCCCCCAGCAGTCCCCCAGTGGAACTCCACGGGCAGTTCCGAGGGCTCCTCTCACCTGGCCCCAGCACTGCGGGATGCAGGCGACCCCATCCTTTTCTCGGACCACCCCCTTCCCCTGGCTTCCAGGTCTCCTTGCCATCTGTACTTGGTCACCTGCTGGGCCCCTGCATTGAAGCAAACACGTCTTAAGCAAAGCTCCTCACCTGCTGCTCCCACCTGGCCCCCTGCAGTTGTCCTCGTGTCTGTTGACGGTGCCTCCACCCTGCCGCCTGGCATCAGCTCGCAGTCACAGGGTGTTCAGAGCCGACCCCCACCCCCCGCCCACGCCCTGCGCATAGCCCCTGCCGTCCCCCCGTTCGTCCTCCCTGAGTCTGCTCTTTCCCCGTGCCAGGCAGGGCCCGGGCGGCCAGCGAGCAGGCGCGGCAGCTGGAGAGTGAGCGCGAGGCGCTGCAGCAGCAGCACAGCGTGCAGGTGGACCAGCTGCGCATGCAGGGCCAGAGCGTGGAGGCCGCGCTCCGCATGGAGCGCCAGGCCGCCTCGGAGGAGAAGTGAGTCAGCGGGGGCGGGGCCGCACCGCAGGGTCTGTGGTTCTACACTTGATCTTAGCCGAAAGGCTGAGAAGTGTCGGGTCCATGGTTCTTTCTGCCTTCTGAGGACTCCTTCAGATTCTGCCTGTGGCTGTGGGCCCATTCTGTCCCTTAGCCTTGCTAACGGTAGAGGCGACCATGATGACACCCGGTTTGTCTTTGATACAGTCATGCCATCTGCTCTCCAGACCACGTTTCACTGCGTGTCCACACGTGGCCTTTTTTGTAGTTTTTTTTTCCTAGCCACTAGGTCATCAGGGGACTTGTCCTTTAAAACCCCTTCTAGGCCAGGTGCTGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAAGTGGGTAGATGGCTTAAGCCCGGGAGTTCCAAGACCAGCCTGGGCAACAGAAAGACAACAAAAATACCCCCAAACCCCCCCGTCTACCAGCATCCAATCTGGGACCTCAGGTTCCTGTCCTTGGCGTGCCTTTTCAGTCTCCTTTAATCTAGAACAGTTCCCCTGCCTTTCTGAGCTGTTTGTGAAGTTCACAGTTTTGAACAGTGCAGGGTAGTTCCATTGTATTATTACTATTATTTTCAAGACAGGGTCTTGCTCTACCGTCCAGGCTGGAGTGCAGTGGCATAATCTCGGCTTACTGTACCTTCCGCCTCTTGGTCTCAAGCGATCCTCCCAGGTAGCTGGGACTATAGGCGCAGGCCAGCACACCTGGCTAATTTTTGCATTTTTGGTAGAGGTGGCGTTTTCCTATGTTGCCCGGGCTGGTCTTGAACTCCTGAGCTCAAGCGATCCTCCTGCCTTGGCTTCTCAAAGTGTTGGGATTATGGGCGTGAGCCACCGCGTCTGGCCGCGATTTTATTATAAACATTAAAAATACTAGCTTTTAGGAAAACGATATTAACTGCCTGGTGACCAGCCCACCAAAGCCTGCTTTAGAGTTGACGGCCTCAGGAGTCCTCACACAGCCTTGGAAGACCCCATTCCAGGCCTGTGATGCGAGGGAGGGAAGGAAGGGGGTAGAGTTGGAAGCAGGCAGCACCGTGGCTGGACTGGCATGAGGTGGTTTCTCCAGCAAAAGCTCCCTTTCCTCAGGAGGAAGCTGGCCCAGTTGCAGGTGGCCTATCACCAGCTCTTCCAAGAATACGACAACCACATCAAGAGCAGCGTGGTGGGCAGTGAGCGGAAGCGAGTGAGTGCGACCACTGGGGCTCTAGGGCTGGCCTTGCCTCTTCCTCTCCCCGTGGCCCTGAACCTTGAGAATGGGTAGACCTGCCTTAGACTTGCCTTAGACCTGTGTCAGGCTGCAGCTGCGACAGCTCAGGGAAGCTGTGGGGAGATGGCAACCCCAGGATGTTGCTCTCAGGAGTGTCAGCAGGCCATCTTAATGGGGGGCTGGGCCAGAGCCTTGGGGTGCTCCCTCTGTGGGGCTGGGGACGTCTTGTCTCCATGGACATTCCCTCTTGCCAGCCATCGCCATCTGGCACCTGGCTCAGCTTCCCCCAAGCCAAGGTAAGCCCGACAGCATTTCCACCCCAGTGTTGGCTGGGAGCCTTTTCCTAGTTTGTCCTCATCAGACCTAAGCTGGGGTGCAGTTTGCTAGTGATCACATTTTAGCAGGACACCGTCAATCGTAAGTGTACCCAGAGGAGATTTATAAGGACAAAGCCTGAAGCCAGGTCACATGGGGAAGAGTTAGCTACAAAACTGGCCACTTAATCTCTGGAGGGGGGCGTTGGTGGGGTGTGTCTGTGTGTGTCTCAGGGGGCTGGAGATGCCTGCGTGGGAGGAGTGCACCTCTGACCAGGTGGCAGAGTGGAAGGACTGAGGGCTCTCAGCTGAGCTGTGCACATG | pathogenic | 342,473 |
Does the variant on chromosome X at location 154564361 affecting gene IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Ectodermal_dysplasia_and_immunodeficiency_1', 'Immunodeficiency_33', 'Incontinentia_pigmenti_syndrome'] | CTCTGGAGGGGGGCGTTGGTGGGGTGTGTCTGTGTGTGTCTCAGGGGGCTGGAGATGCCTGCGTGGGAGGAGTGCACCTCTGACCAGGTGGCAGAGTGGAAGGACTGAGGGCTCTCAGCTGAGCTGTGCACATGGCGGGCACAGGACCGGCTGGCTGTGAGTGGGTGTGGCCTGTGGCCTGTGAAGGGTGGGAGGAGGGCTGTGGAGCTGGGGATTCTGGGAAGGGAATGTCGGCCCAGCTGGGAGGTTGTACCAGATGACCTCAGCGGCCTCTTCAGTCCTGAAAAAAACCTCAGCATCTCCTCTGTCGTTTTGGGCCGTGACAGGACGCAGCCATCTCCCTGTGCACGCTGAGATCCTGCAATGGGCCCTCAAATCAGGGGCTGGCATCACCCAGCCTGGTCAGCCAGGGCCACTCTTTCATCCTTCTCAGTTCTTCTCAGCCAGCCTCGCCCTGGGCTGACGAGGCTCCGTCAGCTCCCCTTGCCCGTCCTTAGGGAATGCAGCTGGAAGATCTCAAACAGCAGCTCCAGCAGGCCGAGGAGGCCCTGGTGGCCAAACAGGAGGTGATCGATAAGCTGAAGGAGGAGGCCGAGCAGCACAAGATTGTGATGGAGACCGTTCCGGTGCTGAAGGCCCAGGTGAGGGCCCTCCTCTCTGACCCACCCTGGCACTGGGACCTGGAGAGTCTCTTTGGCGTCTTTTTTTTTTTTTTTGCTTTTGCTTTTTGAGATTGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCCACTAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAACAATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCGCCATGCCCGTCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCCAGCTGGTCTCGAACTTCTGGCCTCAGGTGATCTGCCCACCGCAGTCTCTCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTCTTTGGCATCATTTTGTAGTGGCCTTTCGTAAGCTTCTGAGCCACTTGTGCTGCTCCTTAGACCTCTCGGTGAGCTTGGCATTACTCGCCGACGTATCTGTTTCCTCTGCGCCGCTGGGGGCTCTGGGAGGACAGCAGTGGGTTCTGCTTTGTTCCTGTGGTGCCTGGCGCAGTGCCTGGTGGGTGGCTGGCTTGTGGCGGGCACATCCCTTTCTGTTGGATTTGCCAGGCGGATATCTACAAGGCGGACTTCCAGGCTGAGAGGCAGGCCCGGGAGAAGCTGGCCGAGAAGAAGGAGCTCCTGCAGGAGCAGCTGGAGCAGCTGCAGAGGGAGTACAGCAAACTGAAGGCCAGCTGTCAGGAGTCGGCCAGGTGGGCCTCTGAGAGCGTGCCCGTGTGAGCAGTGGGTGCGACACTGGGGGGTCGCCAGTGGTGACCCCGCAGTGGGTGCGACACTGGGGGGTTGCCAGTGGTGACCACAGGAGACGGATGGCTCCTGGTGTTCTGGGTTAGGGCTCACTGTGGTCCCTCTCCTCTCACCTGAGCTTCCAAGAGCTGCTTTGACACTAGTCCAGCCAAGGAGCTTTACAGAAATGCGTGGCTTGACTGGACGGTTTCTGTTTCCAAAGGATCGAGGACATGAGGAAGCGGCATGTCGAGGTCTCCCAGGCCCCCTTGCCCCCCGCCCCTGGTGAGTGAGCGAGAACTGGGCCTGCGGGAGGAGGTGGGTGGGGAGGGCAGGTGCTGCGCCGCGGGAGGTCACAGTTCGACCTTCCTGTTGCTCTCTGGAGACTTGACGGCGGGAGCTCGTGTAGGCCACCCCATCGGTAGCCCACCCCCTTCCCCGAGGCTAAGGGAGGCATGCCGTGGTAGCGGCGGCTCCTGGTCTTACATGAGTGGCCTGTGAGACCAGGCCTGCCATTGACAGTCCTGCCAAGTCTCCGTCCCCCTCCATCCTCCCCTTCCCTCTGACTCTTCTCTTTTCCCAGCCTACCTCTCCTCTCCCCTGGCCCTGCCCAGCCAGAGGAGGAGCCCCCCCGAGGAGCCACCTGACTTCTGCTGTCCCAAGTGCCAGTATCAGGCCCCTGATATGGACACCCTGCAGATACATGTCATGGAGTGCATTGAGTAGGGCCGGCCAGTGCAAGGCCACTGCCTGCCGAGGACGTGCCCGGGACCGTGCAGTCTGCGCTTTCCTCTCCCGCCTGCCTAGCCCAGGATGAAGGGCTGGGTGGCCACAACTGGGATGCCACCTGGAGCCCCACCCAGGAGCTGGCCGCGGCACCTTACGCTTCAGCTGTTGATCCGCTGGTCCCCTCTTTTGGGGTAGATGCGGCCCCGATCAGGCCTGACTCGCTGCTCTTTTTGTTCCCTTCTGTCTGCTCGAACCACTTGCCTCGGGCTAATCCCTCCCTCTTCCTCCACCCGGCACTGGGGAAGTCAAGAATGGGGCCTGGGGCTCTCAGGGAGAACTGCTTCCCCTGGCAGAGCTGGGTGGCCGCTCTTCCTCCCACCGGACACCGACCCGCCCGCCGCTGTGCCCTGGGAGTGCTGCCCTCTTACCATGCACACGGGTGCTCTCCTTTTGGGCTGCATGCTATTCCATTTTGCAGCCAGACCGATGTGTATTTAACCAGTCACTATTGATGGACATTTGGGTTGTTTCCCATCTTTTTGTTACCATAAATAATGGCATAGTAAAAATCCTTGTGCATTAGTCGTGCGTATCTTTGGCATAGATTCTGAGAAGTGACACCACTGAGCATGGGCGATGGCGTAGATGGTACCTGAGCCCCCTTCCTCCTTGGAGCTTGGTTTCCCATCTCTCCCCACCCCCTATTTCCCTAGCCTTGCCAAGGAGGAGGTGGGAAAGCCCGTTTGGGTTTTTGTCATTCGCTAGGCCATGCAGTTCTCTGTTAAGAGTGAGCTTAAACATCTTTCCTGAGGCTTTAAGGACCTTTTTTAGTTCTGCTTCTGAATGGGCTGCTCATATCATATATATATATGTATATGTATAGTTGTGTATATGTATGTGTGTGTGTGTGTGTGTGTGTGTATTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTCTCGCCCAGACTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGCGTTCAACCTATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCGCCTGCCACCACGCTCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCACGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTACCTGGCCAATTTTTGTATTTTTAGTAGAGATGGGGGTTTCAGCACTTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCCCGCTGGGCTGCTCATATCTTTTATCCGTTTTTCTACTGGGTTATCTTTTGTTGCTCAGCTTTTAGAAACTCTTTGTCCATGAGCAGGATTGGGTTTGTGGCTGTGATAGAAATTGCAGATATCTTTTCCTGCTTTGACCTCGCTACTAGTGTTTCTTTGTTTTTTGTTTTGAGATAAGGTCTCTGTCACCCGGGTGGGAGTGTAGTGGCACAATCAGAGCTCACTGCAGCCTTGACCTCCTGAGCTCCAGCAGTCCTCCTGCCTCGGCCTTGCGAGTAGCTGGGATCACAGGCGTGCGCCACCACACCCTGCTAAACTACTGGTGCTTCTCAGCCTCGAAGTTTTTTTTTCTTTATGTAGTCACATTTATCCATTTTTTCCCCCTTTTACTGCTTTGACTTTGGAGTCGTCGTGACCACCTTGTGGTCTGTGGGAGGGATGCTTCACACATGAGCACTTTTCTTTTTCTAACACCGAAGCGTGCTCTTGTCTTCACCAAGAGTGTTGTTGCCCAGTGTGACTGGTGATGGCTGTTTCATCATATTCCAGAAGTTTGTGATGCCATTTCCCACACTGGCCCCAATTAGGAAGA | CTCTGGAGGGGGGCGTTGGTGGGGTGTGTCTGTGTGTGTCTCAGGGGGCTGGAGATGCCTGCGTGGGAGGAGTGCACCTCTGACCAGGTGGCAGAGTGGAAGGACTGAGGGCTCTCAGCTGAGCTGTGCACATGGCGGGCACAGGACCGGCTGGCTGTGAGTGGGTGTGGCCTGTGGCCTGTGAAGGGTGGGAGGAGGGCTGTGGAGCTGGGGATTCTGGGAAGGGAATGTCGGCCCAGCTGGGAGGTTGTACCAGATGACCTCAGCGGCCTCTTCAGTCCTGAAAAAAACCTCAGCATCTCCTCTGTCGTTTTGGGCCGTGACAGGACGCAGCCATCTCCCTGTGCACGCTGAGATCCTGCAATGGGCCCTCAAATCAGGGGCTGGCATCACCCAGCCTGGTCAGCCAGGGCCACTCTTTCATCCTTCTCAGTTCTTCTCAGCCAGCCTCGCCCTGGGCTGACGAGGCTCCGTCAGCTCCCCTTGCCCGTCCTTAGGGAATGCAGCTGGAAGATCTCAAACAGCAGCTCCAGCAGGCCGAGGAGGCCCTGGTGGCCAAACAGGAGGTGATCGATAAGCTGAAGGAGGAGGCCGAGCAGCACAAGATTGTGATGGAGACCGTTCCGGTGCTGAAGGCCCAGGTGAGGGCCCTCCTCTCTGACCCACCCTGGCACTGGGACCTGGAGAGTCTCTTTGGCGTCTTTTTTTTTTTTTTTGCTTTTGCTTTTTGAGATTGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCCACTAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAACAATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCGCCATGCCCGTCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCCAGCTGGTCTCGAACTTCTGGCCTCAGGTGATCTGCCCACCGCAGTCTCTCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTCTTTGGCATCATTTTGTAGTGGCCTTTCGTAAGCTTCTGAGCCACTTGTGCTGCTCCTTAGACCTCTCGGTGAGCTTGGCATTACTCGCCGACGTATCTGTTTCCTCTGCGCCGCTGGGGGCTCTGGGAGGACAGCAGTGGGTTCTGCTTTGTTCCTGTGGTGCCTGGCGCAGTGCCTGGTGGGTGGCTGGCTTGTGGCGGGCACATCCCTTTCTGTTGGATTTGCCAGGCGGATATCTACAAGGCGGACTTCCAGGCTGAGAGGCAGGCCCGGGAGAAGCTGGCCGAGAAGAAGGAGCTCCTGCAGGAGCAGCTGGAGCAGCTGCAGAGGGAGTACAGCAAACTGAAGGCCAGCTGTCAGGAGTCGGCCAGGTGGGCCTCTGAGAGCGTGCCCGTGTGAGCAGTGGGTGCGACACTGGGGGGTCGCCAGTGGTGACCCCGCAGTGGGTGCGACACTGGGGGGTTGCCAGTGGTGACCACAGGAGACGGATGGCTCCTGGTGTTCTGGGTTAGGGCTCACTGTGGTCCCTCTCCTCTCACCTGAGCTTCCAAGAGCTGCTTTGACACTAGTCCAGCCAAGGAGCTTTACAGAAATGCGTGGCTTGACTGGACGGTTTCTGTTTCCAAAGGATCGAGGACATGAGGAAGCGGCATGTCGAGGTCTCCCAGGCCCCCTTGCCCCCCGCCCCTGGTGAGTGAGCGAGAACTGGGCCTGCGGGAGGAGGTGGGTGGGGAGGGCAGGTGCTGCGCCGCGGGAGGTCACAGTTCGACCTTCCTGTTGCTCTCTGGAGACTTGACGGCGGGAGCTCGTGTAGGCCACCCCATCGGTAGCCCACCCCCTTCCCCGAGGCTAAGGGAGGCATGCCGTGGTAGCGGCGGCTCCTGGTCTTACATGAGTGGCCTGTGAGACCAGGCCTGCCATTGACAGTCCTGCCAAGTCTCCGTCCCCCTCCATCCTCCCCTTCCCTCTGACTCTTCTCTTTTCCCAGCCTACCTCTCCTCTCCCCTGGCCCTGCCCAGCCAGAGGAGGAGCCCCCCCCGAGGAGCCACCTGACTTCTGCTGTCCCAAGTGCCAGTATCAGGCCCCTGATATGGACACCCTGCAGATACATGTCATGGAGTGCATTGAGTAGGGCCGGCCAGTGCAAGGCCACTGCCTGCCGAGGACGTGCCCGGGACCGTGCAGTCTGCGCTTTCCTCTCCCGCCTGCCTAGCCCAGGATGAAGGGCTGGGTGGCCACAACTGGGATGCCACCTGGAGCCCCACCCAGGAGCTGGCCGCGGCACCTTACGCTTCAGCTGTTGATCCGCTGGTCCCCTCTTTTGGGGTAGATGCGGCCCCGATCAGGCCTGACTCGCTGCTCTTTTTGTTCCCTTCTGTCTGCTCGAACCACTTGCCTCGGGCTAATCCCTCCCTCTTCCTCCACCCGGCACTGGGGAAGTCAAGAATGGGGCCTGGGGCTCTCAGGGAGAACTGCTTCCCCTGGCAGAGCTGGGTGGCCGCTCTTCCTCCCACCGGACACCGACCCGCCCGCCGCTGTGCCCTGGGAGTGCTGCCCTCTTACCATGCACACGGGTGCTCTCCTTTTGGGCTGCATGCTATTCCATTTTGCAGCCAGACCGATGTGTATTTAACCAGTCACTATTGATGGACATTTGGGTTGTTTCCCATCTTTTTGTTACCATAAATAATGGCATAGTAAAAATCCTTGTGCATTAGTCGTGCGTATCTTTGGCATAGATTCTGAGAAGTGACACCACTGAGCATGGGCGATGGCGTAGATGGTACCTGAGCCCCCTTCCTCCTTGGAGCTTGGTTTCCCATCTCTCCCCACCCCCTATTTCCCTAGCCTTGCCAAGGAGGAGGTGGGAAAGCCCGTTTGGGTTTTTGTCATTCGCTAGGCCATGCAGTTCTCTGTTAAGAGTGAGCTTAAACATCTTTCCTGAGGCTTTAAGGACCTTTTTTAGTTCTGCTTCTGAATGGGCTGCTCATATCATATATATATATGTATATGTATAGTTGTGTATATGTATGTGTGTGTGTGTGTGTGTGTGTGTATTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTCTCGCCCAGACTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGCGTTCAACCTATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCGCCTGCCACCACGCTCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCACGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTACCTGGCCAATTTTTGTATTTTTAGTAGAGATGGGGGTTTCAGCACTTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCCCGCTGGGCTGCTCATATCTTTTATCCGTTTTTCTACTGGGTTATCTTTTGTTGCTCAGCTTTTAGAAACTCTTTGTCCATGAGCAGGATTGGGTTTGTGGCTGTGATAGAAATTGCAGATATCTTTTCCTGCTTTGACCTCGCTACTAGTGTTTCTTTGTTTTTTGTTTTGAGATAAGGTCTCTGTCACCCGGGTGGGAGTGTAGTGGCACAATCAGAGCTCACTGCAGCCTTGACCTCCTGAGCTCCAGCAGTCCTCCTGCCTCGGCCTTGCGAGTAGCTGGGATCACAGGCGTGCGCCACCACACCCTGCTAAACTACTGGTGCTTCTCAGCCTCGAAGTTTTTTTTTCTTTATGTAGTCACATTTATCCATTTTTTCCCCCTTTTACTGCTTTGACTTTGGAGTCGTCGTGACCACCTTGTGGTCTGTGGGAGGGATGCTTCACACATGAGCACTTTTCTTTTTCTAACACCGAAGCGTGCTCTTGTCTTCACCAAGAGTGTTGTTGCCCAGTGTGACTGGTGATGGCTGTTTCATCATATTCCAGAAGTTTGTGATGCCATTTCCCACACTGGCCCCAATTAGGAAG | pathogenic | 342,476 |
Does the chromosome X mutation at position 154765540 within gene DKC1 (dyskerin pseudouridine synthase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GCGCTTCTGTGGGATGTTTAAGCTCTGCCATAGCCACGTGGTGAACCGGAAGGGAAGCCGACACGTGCAGTAGCCTACAGTCAGTTACCCAGCCATGGGACCCATACATTTGGCCTTACACACCTTGTTTTCTCGCTTACCTACGGATATACGTTCTAAGAAATGGGTCGTTAGGCGATTTCATCATTGTGTGAACATCAGAGGGCTCTTACACAAACCTAGGTGGCATAGGCTACTACACACCTAGGCTGTATATGGTGTAGCGTATGGCTCCTAGGCTTCAAACCTGGACAGCATGGTATTGTGCGGAATGCTGTAGGCAGTTGGGACACAGCGTCGAGAGTTTGTGTACTTAAACATGTCTAAGCAGAAAAAGGACAGTAAAAATATAGCACAGGGCCGGGCGCGGTGGCTCAGGCCTGTGATCCCAGCCCAGGCTGGCGGATCACCTGCGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTTAGGTGGGCGTGGTGGTATACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGAAGGAGGTTGCAGTGAGCCGAGTTTCTGCCACTGCACTCCAGCCTGGGGAAAGAGTGTGACCGTCTCAAAAAAAAAAAATTATATATATATATAAATATGTGTGTGTATATATGTATATTATATATGTATGTATTATATGTATGTATATTATATATATATAGTACACAAGGTTATAAGTGGTGCACCCGTAGAGGAGGGCACTTACCATGAATGGAGCTTGCTGAGCTGGAAGTTGCCCTGGTTGAGTCGGTGACTGAATGTGAAGGCCTCAGACATTACACTACTGGAGACTTTATAATCTGTACACCTAGGCTACACTAAATTTATAAAAATATATTTTTCTTCAGAATAAATCAACCTTAGCTTACTGTAACTTTATAAACTTTTTACTTCGACTGTTGTAATAATACTTAGCTTAAAACAAACACATTATTTAGCTGTACGTAAATATTTTCTCTGCTTATCTCCTTATTTATAAGTTTTCTATTTTAAAATTTTTTAATTTTTTTCTTAAAAAATTTTTTTTTGTTAACTAAGACACAAACACAGCACACACAGTAGCCTTGACCTACACAGGGTCAGGATCATCAAGACATCACTAGGAGATAGGAATTTTTCAGCTCTGTTATAATCTTATGGGGGCCACCATCACATACGCAGTCTGTACTTGCAAAACATTATGTGGCATGTGACTGTAATTGTAGACCTAAAATCCATTTCCTACCTGCCCTAATTTCGGTCTTTATTTTAAACCCTTGTTTCATTTATTCTTGGGGAAAATTCCCAAATCCTGTGTTTGTTTTTTTAGTAATTATTTTGCCAAAGAAACATAAGAAGAAAAAGGAGCGGAAGTCATTGCCAGAAGAAGATGTAGCCGTGAGTAGTAATGTGTTTGACTTCACTTTGACTAAAAAGAAAGTTTACTTAAATAACAAACTAAAGGAAAGAAGTGTTTTTAAAGGTTTCCAAGGAATGGGCCAGCATTGGTAGTCATTGTGTAGATTCGAAAAAGCACTGAAATGACACAGCCCCAGACAGTCCAAGTGTCCTTCAGGCATAGCTTACTAAATGGTGCTGGCCTTACCAACTGCTGTCTCTGAATTTGTCTTCCTTATGCCACCCACAGACCCGCCATCCCCCTTTCTCTTTAAATGTTTGGACCCATCTTAGTGACATTTCACTTCCCCTCTGTACTCCTGGTTCATTTCTTCTCTCTCTTTCCCTTGGAGGTCCCAGTGAAAAGGCATAGGAAGCCTTGTTTTCTGTTTAAAAGGCATACATTTCCATGGCAGTAATGGAATTGTTCAAAATCGGGTGGGAAGTTTAATAGGTTATATTTCTGTCCTGTCGAAGGAAATACAACACGCTGAAGAATTTCTTATCAAACCTGAATCCAAAGTTGCTAAGTTGGACACGTCTCAGTGGCCCCTTTTGCTAAAGGTATGTGGTTAAAATCGTGCATCAGATGAATGCCTGCTTTTACGTTATTTCCAAGTGTTAAACAATTGATTGAGAATGCTTACTGCTGGCATCCTTGACTTTGGGAAGTGCCCACTGATACAGTTTAAAGCAGGATTCCTTAAGGTATCTGAAATGAGAACCAAGTTTTTAAAAAATTGGCAGTGCACTCAACACTGTTGTAGAACACATGTCCCCACAATGTTAAATTGCTGAGTTTGTCAACAGTTCTCAGTTTTTGTACTTAGTCCATCTTGCAGACCTATGCCAGTTTGTGGGCCACATAGTGGTACTGACTCTTTTTTTACATGTGCTCACGACATGGTATTTTGTTTTGTGTTGTGTCGTTGCTTTGTAGAATTTTGATAAGCTGAATGTAAGGACAACACACTATACACCTCTTGCATGTGGTTCAAATCCTCTGAAGAGAGAGATTGGGGACTATATCAGGTAAGTGTTGGGAGGAGGCACTGTGCAAACTTACTTTCTTTTGAAAATGCTTTCACATCAGCTATTCAGGAAGGCAGTGGCATGCCAGAATAGCTTTGTCTTGAATATATAACCTGTACCCGCAGTGAATTATTTTTCTTTTTAACTTTTCAGATTTGTTGTTTCACTGGAGCATTAAGAGTGGGTGATACATTAATTTTTTTTTTTTCCATTCCAGGACAGGTTTCATTAATCTTGACAAGCCCTCTAACCCCTCTTCCCATGAGGTGGTAGCCTGGATTCGACGGATACTTCGGGTGGAGAAGACAGGGCACAGTGGTACGCTGGATCCCAAGGTGACTGGTTGTTTAATCGTGTGCATAGAACGAGCCACTCGCTTGGTGAAGTCACAACAGAGTGCAGGTATGTGGGAGAGGGAGGGAAGGACTGGCTAGAGTGAAAAGCTTTCTGTATTTCCCTTCTATGTTTTGTCTGCTGGAAACTATTTCTTCATTAAGAAAAAAAAAAATCCTAAAGCAAGGATATTGTTTTGGTTTCTGTGTACGTTCTGTCCCCTGCCAGATCTTGGTGGTCCGCGCTTTTTGGAATTCCACATACTAAGCATGTATTCATCAAGCTGACTGGATCCATTTGTCCGGGTTCAGCTCTCAGCTTGTCACTCCAGGCTTCTCACTCTGTGCTACCGCTTCTGCCTAAAGTATCCTTCGTTCATTTTTATCTGAGAAAAGCCTGCTTATCTTGCAAGGCTTTTTCCACGCAGCTTCTACACTGAGTACTCCCAACTGTCCCTGTTAGTACATTGAATTCCCAGTGAGAAAGTGTCTTCATTCTTTCCCACATCATCACCATGAAATCTCTCTTAATGCAAATTTTATAGAAACACAAGGTCAAACTGCCGCTTTTCCTGCTGTGCAAAATGGGAGTGACTGAGCATATAAGAAATATGGAAAACAGAAAACTCAGTGGCCACACCTGACTACTCTTTTGTCATTTTTCAGGCAAAGAGTATGTGGGGATTGTCCGGCTGCACAATGCTATTGAAGGGGGGACCCAGCTTTCTAGGGTAAGTCTGCAATTGTAGGGAGGACACCCTTTGTTGACTTGGATCTCTGAGCCCCTAAACATCTGGAGATGGGTTAGCTGTCCTGACTGACTCCTTTTGTCCCCTTTTCAGTCGGCTGCTGCAGCCAGCCTGGACCAGTGACTGCACATGTACATTCTGATGAGGTGTTTGTTTTCATTTGTGTTTGTTCTTAGGCCCTAGAAACTCTGACAGGTGCCTTATTCCAGCGACCCCCACTTATTGCTGCAGTAAAGAGGCAGCTCCGAGTGAGGACCATCTACGAGAGCAAAATGATTGAATACGATCCTGAAAGAAGATTAGGTGAGTCATTAGGCCTGTGAGTGGGTATGAACACATTCTTCAGGATTCTGTTCTCTTATTAAAAGTAGATGCCCTTGAAGTTGAAGACTTTCTAAAACCTGCCCTACAGCTGGGATATTGTCTGTGGGCGATAGTTTTTGTTATCTTTTGTTGAAAAAGTGAACAGTGCCTAGTAAAGTGAGATGGCTTTTACACCTTTTATGAT | GCGCTTCTGTGGGATGTTTAAGCTCTGCCATAGCCACGTGGTGAACCGGAAGGGAAGCCGACACGTGCAGTAGCCTACAGTCAGTTACCCAGCCATGGGACCCATACATTTGGCCTTACACACCTTGTTTTCTCGCTTACCTACGGATATACGTTCTAAGAAATGGGTCGTTAGGCGATTTCATCATTGTGTGAACATCAGAGGGCTCTTACACAAACCTAGGTGGCATAGGCTACTACACACCTAGGCTGTATATGGTGTAGCGTATGGCTCCTAGGCTTCAAACCTGGACAGCATGGTATTGTGCGGAATGCTGTAGGCAGTTGGGACACAGCGTCGAGAGTTTGTGTACTTAAACATGTCTAAGCAGAAAAAGGACAGTAAAAATATAGCACAGGGCCGGGCGCGGTGGCTCAGGCCTGTGATCCCAGCCCAGGCTGGCGGATCACCTGCGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTTAGGTGGGCGTGGTGGTATACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGAAGGAGGTTGCAGTGAGCCGAGTTTCTGCCACTGCACTCCAGCCTGGGGAAAGAGTGTGACCGTCTCAAAAAAAAAAAATTATATATATATATAAATATGTGTGTGTATATATGTATATTATATATGTATGTATTATATGTATGTATATTATATATATATAGTACACAAGGTTATAAGTGGTGCACCCGTAGAGGAGGGCACTTACCATGAATGGAGCTTGCTGAGCTGGAAGTTGCCCTGGTTGAGTCGGTGACTGAATGTGAAGGCCTCAGACATTACACTACTGGAGACTTTATAATCTGTACACCTAGGCTACACTAAATTTATAAAAATATATTTTTCTTCAGAATAAATCAACCTTAGCTTACTGTAACTTTATAAACTTTTTACTTCGACTGTTGTAATAATACTTAGCTTAAAACAAACACATTATTTAGCTGTACGTAAATATTTTCTCTGCTTATCTCCTTATTTATAAGTTTTCTATTTTAAAATTTTTTAATTTTTTTCTTAAAAAATTTTTTTTTGTTAACTAAGACACAAACACAGCACACACAGTAGCCTTGACCTACACAGGGTCAGGATCATCAAGACATCACTAGGAGATAGGAATTTTTCAGCTCTGTTATAATCTTATGGGGGCCACCATCACATACGCAGTCTGTACTTGCAAAACATTATGTGGCATGTGACTGTAATTGTAGACCTAAAATCCATTTCCTACCTGCCCTAATTTCGGTCTTTATTTTAAACCCTTGTTTCATTTATTCTTGGGGAAAATTCCCAAATCCTGTGTTTGTTTTTTTAGTAATTATTTTGCCAAAGAAACATAAGAAGAAAAAGGAGCGGAAGTCATTGCCAGAAGAAGATGTAGCCGTGAGTAGTAATGTGTTTGACTTCACTTTGACTAAAAAGAAAGTTTACTTAAATAACAAACTAAAGGAAAGAAGTGTTTTTAAAGGTTTCCAAGGAATGGGCCAGCATTGGTAGTCATTGTGTAGATTCGAAAAAGCACTGAAATGACACAGCCCCAGACAGTCCAAGTGTCCTTCAGGCATAGCTTACTAAATGGTGCTGGCCTTACCAACTGCTGTCTCTGAATTTGTCTTCCTTATGCCACCCACAGACCCGCCATCCCCCTTTCTCTTTAAATGTTTGGACCCATCTTAGTGACATTTCACTTCCCCTCTGTACTCCTGGTTCATTTCTTCTCTCTCTTTCCCTTGGAGGTCCCAGTGAAAAGGCATAGGAAGCCTTGTTTTCTGTTTAAAAGGCATACATTTCCATGGCAGTAATGGAATTGTTCAAAATCGGGTGGGAAGTTTAATAGGTTATATTTCTGTCCTGTCGAAGGAAATACAACACGCTGAAGAATTTCTTATCAAACCTGAATCCAAAGTTGCTAAGTTGGACACGTCTCAGTGGCCCCTTTTGCTAAAGGTATGTGGTTAAATCGTGCATCAGATGAATGCCTGCTTTTACGTTATTTCCAAGTGTTAAACAATTGATTGAGAATGCTTACTGCTGGCATCCTTGACTTTGGGAAGTGCCCACTGATACAGTTTAAAGCAGGATTCCTTAAGGTATCTGAAATGAGAACCAAGTTTTTAAAAAATTGGCAGTGCACTCAACACTGTTGTAGAACACATGTCCCCACAATGTTAAATTGCTGAGTTTGTCAACAGTTCTCAGTTTTTGTACTTAGTCCATCTTGCAGACCTATGCCAGTTTGTGGGCCACATAGTGGTACTGACTCTTTTTTTACATGTGCTCACGACATGGTATTTTGTTTTGTGTTGTGTCGTTGCTTTGTAGAATTTTGATAAGCTGAATGTAAGGACAACACACTATACACCTCTTGCATGTGGTTCAAATCCTCTGAAGAGAGAGATTGGGGACTATATCAGGTAAGTGTTGGGAGGAGGCACTGTGCAAACTTACTTTCTTTTGAAAATGCTTTCACATCAGCTATTCAGGAAGGCAGTGGCATGCCAGAATAGCTTTGTCTTGAATATATAACCTGTACCCGCAGTGAATTATTTTTCTTTTTAACTTTTCAGATTTGTTGTTTCACTGGAGCATTAAGAGTGGGTGATACATTAATTTTTTTTTTTTCCATTCCAGGACAGGTTTCATTAATCTTGACAAGCCCTCTAACCCCTCTTCCCATGAGGTGGTAGCCTGGATTCGACGGATACTTCGGGTGGAGAAGACAGGGCACAGTGGTACGCTGGATCCCAAGGTGACTGGTTGTTTAATCGTGTGCATAGAACGAGCCACTCGCTTGGTGAAGTCACAACAGAGTGCAGGTATGTGGGAGAGGGAGGGAAGGACTGGCTAGAGTGAAAAGCTTTCTGTATTTCCCTTCTATGTTTTGTCTGCTGGAAACTATTTCTTCATTAAGAAAAAAAAAAATCCTAAAGCAAGGATATTGTTTTGGTTTCTGTGTACGTTCTGTCCCCTGCCAGATCTTGGTGGTCCGCGCTTTTTGGAATTCCACATACTAAGCATGTATTCATCAAGCTGACTGGATCCATTTGTCCGGGTTCAGCTCTCAGCTTGTCACTCCAGGCTTCTCACTCTGTGCTACCGCTTCTGCCTAAAGTATCCTTCGTTCATTTTTATCTGAGAAAAGCCTGCTTATCTTGCAAGGCTTTTTCCACGCAGCTTCTACACTGAGTACTCCCAACTGTCCCTGTTAGTACATTGAATTCCCAGTGAGAAAGTGTCTTCATTCTTTCCCACATCATCACCATGAAATCTCTCTTAATGCAAATTTTATAGAAACACAAGGTCAAACTGCCGCTTTTCCTGCTGTGCAAAATGGGAGTGACTGAGCATATAAGAAATATGGAAAACAGAAAACTCAGTGGCCACACCTGACTACTCTTTTGTCATTTTTCAGGCAAAGAGTATGTGGGGATTGTCCGGCTGCACAATGCTATTGAAGGGGGGACCCAGCTTTCTAGGGTAAGTCTGCAATTGTAGGGAGGACACCCTTTGTTGACTTGGATCTCTGAGCCCCTAAACATCTGGAGATGGGTTAGCTGTCCTGACTGACTCCTTTTGTCCCCTTTTCAGTCGGCTGCTGCAGCCAGCCTGGACCAGTGACTGCACATGTACATTCTGATGAGGTGTTTGTTTTCATTTGTGTTTGTTCTTAGGCCCTAGAAACTCTGACAGGTGCCTTATTCCAGCGACCCCCACTTATTGCTGCAGTAAAGAGGCAGCTCCGAGTGAGGACCATCTACGAGAGCAAAATGATTGAATACGATCCTGAAAGAAGATTAGGTGAGTCATTAGGCCTGTGAGTGGGTATGAACACATTCTTCAGGATTCTGTTCTCTTATTAAAAGTAGATGCCCTTGAAGTTGAAGACTTTCTAAAACCTGCCCTACAGCTGGGATATTGTCTGTGGGCGATAGTTTTTGTTATCTTTTGTTGAAAAAGTGAACAGTGCCTAGTAAAGTGAGATGGCTTTTACACCTTTTATGATN | benign | 342,487 |
Variant at chromosome position 154776255, chromosome X, gene DKC1 (dyskerin pseudouridine synthase 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TCTGTCACCTGGAGTGTCCACAGTGGTCAAGGAGTCTGGTCAAGGGATTGTCTGTTAAGCCACACCGGTGTGAAGAGTGGGTTAGGTGTTGGTGAAGTGAAGAGGGGAGGGGAGAGTTCAGGGCATTGGGAGCAAGCAGCATGTGCAAAGGCAAAAAAGTAGAGTGGCTGCGGTGGGGACGTTATGTCTGCAGAGGCTCTCACTAATAAGCTTTGTGATCTTCAACAAGTCCTGTGTGTGTTGGAGTTAGTGGGCAAATTCTGAATGCTCTGGAGAGGAGTTTGAGGCCCTGCTGAGAATACACCAGGGAGGAACCTTGTTCTATTCTTTGTAGTCACCATGCCCGCTTCCAGCATTGACACCATTCTAATGTTGACACCTTGATGTTCCACCAGGCAAGTCAGAAGAAGCTGATGATCAAGCAGGGCCTTCTGGACAAGCATGGGAAGCCCACAGACAGCACACCTGCCACCTGGAAGCAGGAGTATGTTGACTACAGGTGAGGGCAGGATGTTTCAGAGCCGGGGTGGGTAGAGACGGCACACTTGCTGCCTTGATGCAGGAGTATGTCAACAACAGGTGAGGATGGGAAGGTAGAGCCCACTTGCCATCTGGACGCAGGAGTACATGGACAACAGGTGAGGAACAGGTGAGCATGGAGGTTGTAGAGCCCAGGGGAGGGGGAGTCACTTGGTTTGGGGCAAACTTGCTAAATGCAGGACCACAGGAACCAGCTCTTCAGCTCCCGTGAGATTTTGGCTGCCCAGGCCAGTTAGGGGTGTGGGCCTGCACGGCAGACAGTTATCCCTTTCTAGTCTGGCTCGTGGGACTCTAGAGGGAGTCAGTCTGCAACAGTAAGTGGTGAGTTCTTCTGTCCAGCGTCAGTATTTTGATGGTGGCTTTAGACTTGCCAGATAACACTACATAACATCAGTACTGCCCTGGAAAGCCATTCAGTGAATTTGACCTATTGCTACCTCTTTTTCAGTGAGTCTGCCAAAAAAGAGGTGGTTGCTGAAGTGGTAAAAGCCCCGCAGGTAGTTGCCGAAGCAGCAAAAACTGCGAAGGTGAGTGGCATGCTGTCCTCAGTTTGGAATGTGCTTAGGGAGATAATCCTAAGAGGCACTGGCATTCGTCTTACTTTGTGACTGTCCGCAGTCCAGCCATATACGCTAGCATCAGAGGTGCAGCGCATACACAGGTAATGCTGCCTCATACCCTGGGGTGCTTGTTTGGGCTCTGCAGGCTCCTCTGATTTGTATTCTCTGTCCTATCTGCTGGGAGGAGGAATGTGGGCTCAGGAATCAGATGGGCCTCGACTCCTACCTCAGCTATGGCAGCAACACAGTGATGGAATGGGTGGTGGTGTGTGTGTCAATTCTGGCCCCCGCCCTGGGTCAAATGGTAGGACAGATGTGTTGAAATCAGAGGCCATGGCTGTTGGACATTCGAGGCCATACAAAATTCAGCAGAGAGCAGAATTGCATCTTAACCTGGCACCACCCAGTGTTGAAAGAGTCAGTCAAGCATGGGTTGGCAACTCCACCCCATGGAGCTGCTGGCATTAGAGCACAGAATGACAGGTCTGCACTCAGAAACCGGGGGCGGTACTGAGTATCCTGCACAGGCTGTGTGGGAGGAGCTTCTGACTTGTCAGATGTGAATTCCTGCTTTGCCTGCTTTCTGTGAGAGGTCCTTGCAGTCATGAGAGAAACAGCTCCTCCGGGCCTTTCCACCCCAAGCCCCGTGCTGCTGCTGTGCTCCTTCTCTTGTGCCTGCCTCAAGGCTTCTTGGATTTGGGGGATGAGACTGTCTTCAAATCCTCAGTAAACTAAGGCCCTGTCCGGGTTTGTAGTCAGAAAACGTCCTGTTAGATTCAGTTGGGATCTTTCTTGGTGCCTTGCTACCTTTTGACTCACTGAACCTTTCTTGTCCATTATTGCCCAAGATCTAACACTTAACCAATTGCTTTCATCTCAGCGGAAGCGAGAGAGTGAGAGTGAAAGTGACGAGACTCCTCCAGCAGCTCCTCAGTTGATCAAGAAGGAAAAGAAGAAGAGTAAGAAGGACAAGAAGGCCAAAGCTGGTCTGGAGAGCGGGGCCGAGCCTGGAGATGGGGTGTGTGGAAACACGTTCAGGTTCCTTGGGCTGGCTTAGTCCCTGCGTGGGGAAAGAATTACCCAGGTGGTACCAGCTTTGTTACTCTTCTTGGAGGAGCTGTGGCCTGGGGGTGGGATGCCACCGAGTGCCTTTAGTGCTTCCCCATGTTCCTGGAGTGCTTTTGCCCTCCCTGTGGAATGGACAGATAGAGGCACCCGACCTCTACCACTTATACTTAGAGCTCTATTGATGGTGGGTGGAGAGGATGTGTAGGATGGTGATCTGAATGTTTCCACTTCCAAAAGTAGACCACTAGGGTGTCACTGAAAGGTTTACAGAACTTTGTGTCACATGCAGCATTTAACCCAAAATATCCTTACAGGTCCTGAAAAAGGCTTGCTTGACTGTGGACCTTTACCAGATTTCCTTCTGGGAGAGTCATAGCTTTGTTAGTGGATGGTATCTGTGAGCTTTCATTCTCTTTCTTTCTAGGACAGTGATACCACCAAGAAGAAGAAGAAGAAGAAGAAAGCAAAAGAGGTAGAATTGGTTTCTGAGTAGTGAAGGCCACTTGAAGCTGGAGGAGAAACTAAAGCCTTATTGAGAAAACATGTTATAGATCCTTTTGTTGCTGAGAGAGTGGAACATAGGTCCTAGACAGGGTGAAGAGTTCTGGCACATTTTAGCTGCTACTTTGAGACCTCGGTGATGTTACCTGGTGTGGTCATCCCATCTTGTCCTGTTTTAAGGATATGGGTGGTGAAAGATGAAAGAGGCAGAGTTTATCCCAATGACTTCTCTGTTTGAGTTGGGAAGCCTCACCTTCAGACCCAGTAACTGTCCGCAGCTGTCTGCTAGTGGTTGTCTTAACATCGTAGTCCTAGTTTGCATTTTTTAAATCCCCTCTGTTTAAAAGGTTTGTAAAACAAAAACAAAAAACTAAGTCTGCTCAGTGAAATGCTGTAGAACCCTAAATAAGTGGTAGAAGAGTGTCACTGAATTTTGTCTCTGAATTCAGTATAACTGAGTTTTGTCCATGCTGGTGTCTGGGTTATAGGCCTGATGGGCCTGGTAGTTTTCCATCTTGTTCTGGCCTAGAGGTCAGTCCTTTGCACTTCCTCAAAGCTTGTGTACAGTGCTCACCTAAATCCATCTGACTACTTGTTCCTGTGCCCTCTTGTTTTAGGCCTCGTTTACTTTTAAAAAATGAAATTGTTCATTGCTGGGAGAAGAATGTTGTAATTTTTACTTATTAAAGTCAACTTGTTAAGTTTTTTATGTATTCCTGTTGGGTTTTCTTGTTGATCTCATGCTAGCAGAGCAAAAATTGTAAAATATTTTGATTAAAAATCTAGGGACCTTTATGTCCTATTTGAAATGTGATGCTTTTATGTTTGTTTTCTGGTTTTTACATTTTTGTTCTGTATCTTACACAATCCACCTTGGGCCCTGTCATCTGATGTGAGATCAAGTACTCAGAGGCAGTGATTACCACAAAACCACTGATCTCTAGAAGAACAGAGAAGGAGAGGGTTAATGTATTTATACATAGTGGGCCTGGCAGGAGCGGGGGGCAGGGTGAGTCGGGAGAACGAAGCTGAGGGTGGGGACATGCAGGAATCTGAAGGCCTTGGTGACAGATTAGTGGAAGAAAGGTCTAGGGTTGCTTCCGATTTGGTATTAAGAACCAAGAAAGAGGCCGGGTGCAATGGCTCACACCTATAATCCCAGTGCTTTGGGAGGCTGAGGCGGGCAGATCACCCGAGGTCAGGAGTCTGAGACCAGCCTGGGCCAACATGGCAAAACCCATCTCTACTACAAATACAAAAATTAGCCAGGTGTGGTGGCGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCCTGGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCCTGCCACTGCACTCCAGCCTGGCAAAACAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAA | TCTGTCACCTGGAGTGTCCACAGTGGTCAAGGAGTCTGGTCAAGGGATTGTCTGTTAAGCCACACCGGTGTGAAGAGTGGGTTAGGTGTTGGTGAAGTGAAGAGGGGAGGGGAGAGTTCAGGGCATTGGGAGCAAGCAGCATGTGCAAAGGCAAAAAAGTAGAGTGGCTGCGGTGGGGACGTTATGTCTGCAGAGGCTCTCACTAATAAGCTTTGTGATCTTCAACAAGTCCTGTGTGTGTTGGAGTTAGTGGGCAAATTCTGAATGCTCTGGAGAGGAGTTTGAGGCCCTGCTGAGAATACACCAGGGAGGAACCTTGTTCTATTCTTTGTAGTCACCATGCCCGCTTCCAGCATTGACACCATTCTAATGTTGACACCTTGATGTTCCACCAGGCAAGTCAGAAGAAGCTGATGATCAAGCAGGGCCTTCTGGACAAGCATGGGAAGCCCACAGACAGCACACCTGCCACCTGGAAGCAGGAGTATGTTGACTACAGGTGAGGGCAGGATGTTTCAGAGCCGGGGTGGGTAGAGACGGCACACTTGCTGCCTTGATGCAGGAGTATGTCAACAACAGGTGAGGATGGGAAGGTAGAGCCCACTTGCCATCTGGACGCAGGAGTACATGGACAACAGGTGAGGAACAGGTGAGCATGGAGGTTGTAGAGCCCAGGGGAGGGGGAGTCACTTGGTTTGGGGCAAACTTGCTAAATGCAGGACCACAGGAACCAGCTCTTCAGCTCCCGTGAGATTTTGGCTGCCCAGGCCAGTTAGGGGTGTGGGCCTGCACGGCAGACAGTTATCCCTTTCTAGTCTGGCTCGTGGGACTCTAGAGGGAGTCAGTCTGCAACAGTAAGTGGTGAGTTCTTCTGTCCAGCGTCAGTATTTTGATGGTGGCTTTAGACTTGCCAGATAACACTACATAACATCAGTACTGCCCTGGAAAGCCATTCAGTGAATTTGACCTATTGCTACCTCTTTTTCAGTGAGTCTGCCAAAAAAGAGGTGGTTGCTGAAGTGGTAAAAGCCCCGCAGGTAGTTGCCGAAGCAGCAAAAACTGCGAAGGTGAGTGGCATGCTGTCCTCAGTTTGGAATGTGCTTAGGGAGATAATCCTAAGAGGCACTGGCATTCGTCTTACTTTGTGACTGTCCGCAGTCCAGCCATATACGCTAGCATCAGAGGTGCAGCGCATACACAGGTAATGCTGCCTCATACCCTGGGGTGCTTGTTTGGGCTCTGCAGGCTCCTCTGATTTGTATTCTCTGTCCTATCTGCTGGGAGGAGGAATGTGGGCTCAGGAATCAGATGGGCCTCGACTCCTACCTCAGCTATGGCAGCAACACAGTGATGGAATGGGTGGTGGTGTGTGTGTCAATTCTGGCCCCCGCCCTGGGTCAAATGGTAGGACAGATGTGTTGAAATCAGAGGCCATGGCTGTTGGACATTCGAGGCCATACAAAATTCAGCAGAGAGCAGAATTGCATCTTAACCTGGCACCACCCAGTGTTGAAAGAGTCAGTCAAGCATGGGTTGGCAACTCCACCCCATGGAGCTGCTGGCATTAGAGCACAGAATGACAGGTCTGCACTCAGAAACCGGGGGCGGTACTGAGTATCCTGCACAGGCTGTGTGGGAGGAGCTTCTGACTTGTCAGATGTGAATTCCTGCTTTGCCTGCTTTCTGTGAGAGGTCCTTGCAGTCATGAGAGAAACAGCTCCTCCGGGCCTTTCCACCCCAAGCCCCGTGCTGCTGCTGTGCTCCTTCTCTTGTGCCTGCCTCAAGGCTTCTTGGATTTGGGGGATGAGACTGTCTTCAAATCCTCAGTAAACTAAGGCCCTGTCCGGGTTTGTAGTCAGAAAACGTCCTGTTAGATTCAGTTGGGATCTTTCTTGGTGCCTTGCTACCTTTTGACTCACTGAACCTTTCTTGTCCATTATTGCCCAAGATCTAACACTTAACCAATTGCTTTCATCTCAGCGGAAGCGAGAGAGTGAGAGTGAAAGTGACGAGACTCCTCCAGCAGCTCCTCAGTTGATCAAGAAGGAAAAGAAGAGTAAGAAGGACAAGAAGGCCAAAGCTGGTCTGGAGAGCGGGGCCGAGCCTGGAGATGGGGTGTGTGGAAACACGTTCAGGTTCCTTGGGCTGGCTTAGTCCCTGCGTGGGGAAAGAATTACCCAGGTGGTACCAGCTTTGTTACTCTTCTTGGAGGAGCTGTGGCCTGGGGGTGGGATGCCACCGAGTGCCTTTAGTGCTTCCCCATGTTCCTGGAGTGCTTTTGCCCTCCCTGTGGAATGGACAGATAGAGGCACCCGACCTCTACCACTTATACTTAGAGCTCTATTGATGGTGGGTGGAGAGGATGTGTAGGATGGTGATCTGAATGTTTCCACTTCCAAAAGTAGACCACTAGGGTGTCACTGAAAGGTTTACAGAACTTTGTGTCACATGCAGCATTTAACCCAAAATATCCTTACAGGTCCTGAAAAAGGCTTGCTTGACTGTGGACCTTTACCAGATTTCCTTCTGGGAGAGTCATAGCTTTGTTAGTGGATGGTATCTGTGAGCTTTCATTCTCTTTCTTTCTAGGACAGTGATACCACCAAGAAGAAGAAGAAGAAGAAGAAAGCAAAAGAGGTAGAATTGGTTTCTGAGTAGTGAAGGCCACTTGAAGCTGGAGGAGAAACTAAAGCCTTATTGAGAAAACATGTTATAGATCCTTTTGTTGCTGAGAGAGTGGAACATAGGTCCTAGACAGGGTGAAGAGTTCTGGCACATTTTAGCTGCTACTTTGAGACCTCGGTGATGTTACCTGGTGTGGTCATCCCATCTTGTCCTGTTTTAAGGATATGGGTGGTGAAAGATGAAAGAGGCAGAGTTTATCCCAATGACTTCTCTGTTTGAGTTGGGAAGCCTCACCTTCAGACCCAGTAACTGTCCGCAGCTGTCTGCTAGTGGTTGTCTTAACATCGTAGTCCTAGTTTGCATTTTTTAAATCCCCTCTGTTTAAAAGGTTTGTAAAACAAAAACAAAAAACTAAGTCTGCTCAGTGAAATGCTGTAGAACCCTAAATAAGTGGTAGAAGAGTGTCACTGAATTTTGTCTCTGAATTCAGTATAACTGAGTTTTGTCCATGCTGGTGTCTGGGTTATAGGCCTGATGGGCCTGGTAGTTTTCCATCTTGTTCTGGCCTAGAGGTCAGTCCTTTGCACTTCCTCAAAGCTTGTGTACAGTGCTCACCTAAATCCATCTGACTACTTGTTCCTGTGCCCTCTTGTTTTAGGCCTCGTTTACTTTTAAAAAATGAAATTGTTCATTGCTGGGAGAAGAATGTTGTAATTTTTACTTATTAAAGTCAACTTGTTAAGTTTTTTATGTATTCCTGTTGGGTTTTCTTGTTGATCTCATGCTAGCAGAGCAAAAATTGTAAAATATTTTGATTAAAAATCTAGGGACCTTTATGTCCTATTTGAAATGTGATGCTTTTATGTTTGTTTTCTGGTTTTTACATTTTTGTTCTGTATCTTACACAATCCACCTTGGGCCCTGTCATCTGATGTGAGATCAAGTACTCAGAGGCAGTGATTACCACAAAACCACTGATCTCTAGAAGAACAGAGAAGGAGAGGGTTAATGTATTTATACATAGTGGGCCTGGCAGGAGCGGGGGGCAGGGTGAGTCGGGAGAACGAAGCTGAGGGTGGGGACATGCAGGAATCTGAAGGCCTTGGTGACAGATTAGTGGAAGAAAGGTCTAGGGTTGCTTCCGATTTGGTATTAAGAACCAAGAAAGAGGCCGGGTGCAATGGCTCACACCTATAATCCCAGTGCTTTGGGAGGCTGAGGCGGGCAGATCACCCGAGGTCAGGAGTCTGAGACCAGCCTGGGCCAACATGGCAAAACCCATCTCTACTACAAATACAAAAATTAGCCAGGTGTGGTGGCGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCCTGGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCCTGCCACTGCACTCCAGCCTGGCAAAACAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAANNN | benign | 342,518 |
Variant at chromosome X, position 154776813, gene DKC1 (dyskerin pseudouridine synthase 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GCAGGAGTATGTCAACAACAGGTGAGGATGGGAAGGTAGAGCCCACTTGCCATCTGGACGCAGGAGTACATGGACAACAGGTGAGGAACAGGTGAGCATGGAGGTTGTAGAGCCCAGGGGAGGGGGAGTCACTTGGTTTGGGGCAAACTTGCTAAATGCAGGACCACAGGAACCAGCTCTTCAGCTCCCGTGAGATTTTGGCTGCCCAGGCCAGTTAGGGGTGTGGGCCTGCACGGCAGACAGTTATCCCTTTCTAGTCTGGCTCGTGGGACTCTAGAGGGAGTCAGTCTGCAACAGTAAGTGGTGAGTTCTTCTGTCCAGCGTCAGTATTTTGATGGTGGCTTTAGACTTGCCAGATAACACTACATAACATCAGTACTGCCCTGGAAAGCCATTCAGTGAATTTGACCTATTGCTACCTCTTTTTCAGTGAGTCTGCCAAAAAAGAGGTGGTTGCTGAAGTGGTAAAAGCCCCGCAGGTAGTTGCCGAAGCAGCAAAAACTGCGAAGGTGAGTGGCATGCTGTCCTCAGTTTGGAATGTGCTTAGGGAGATAATCCTAAGAGGCACTGGCATTCGTCTTACTTTGTGACTGTCCGCAGTCCAGCCATATACGCTAGCATCAGAGGTGCAGCGCATACACAGGTAATGCTGCCTCATACCCTGGGGTGCTTGTTTGGGCTCTGCAGGCTCCTCTGATTTGTATTCTCTGTCCTATCTGCTGGGAGGAGGAATGTGGGCTCAGGAATCAGATGGGCCTCGACTCCTACCTCAGCTATGGCAGCAACACAGTGATGGAATGGGTGGTGGTGTGTGTGTCAATTCTGGCCCCCGCCCTGGGTCAAATGGTAGGACAGATGTGTTGAAATCAGAGGCCATGGCTGTTGGACATTCGAGGCCATACAAAATTCAGCAGAGAGCAGAATTGCATCTTAACCTGGCACCACCCAGTGTTGAAAGAGTCAGTCAAGCATGGGTTGGCAACTCCACCCCATGGAGCTGCTGGCATTAGAGCACAGAATGACAGGTCTGCACTCAGAAACCGGGGGCGGTACTGAGTATCCTGCACAGGCTGTGTGGGAGGAGCTTCTGACTTGTCAGATGTGAATTCCTGCTTTGCCTGCTTTCTGTGAGAGGTCCTTGCAGTCATGAGAGAAACAGCTCCTCCGGGCCTTTCCACCCCAAGCCCCGTGCTGCTGCTGTGCTCCTTCTCTTGTGCCTGCCTCAAGGCTTCTTGGATTTGGGGGATGAGACTGTCTTCAAATCCTCAGTAAACTAAGGCCCTGTCCGGGTTTGTAGTCAGAAAACGTCCTGTTAGATTCAGTTGGGATCTTTCTTGGTGCCTTGCTACCTTTTGACTCACTGAACCTTTCTTGTCCATTATTGCCCAAGATCTAACACTTAACCAATTGCTTTCATCTCAGCGGAAGCGAGAGAGTGAGAGTGAAAGTGACGAGACTCCTCCAGCAGCTCCTCAGTTGATCAAGAAGGAAAAGAAGAAGAGTAAGAAGGACAAGAAGGCCAAAGCTGGTCTGGAGAGCGGGGCCGAGCCTGGAGATGGGGTGTGTGGAAACACGTTCAGGTTCCTTGGGCTGGCTTAGTCCCTGCGTGGGGAAAGAATTACCCAGGTGGTACCAGCTTTGTTACTCTTCTTGGAGGAGCTGTGGCCTGGGGGTGGGATGCCACCGAGTGCCTTTAGTGCTTCCCCATGTTCCTGGAGTGCTTTTGCCCTCCCTGTGGAATGGACAGATAGAGGCACCCGACCTCTACCACTTATACTTAGAGCTCTATTGATGGTGGGTGGAGAGGATGTGTAGGATGGTGATCTGAATGTTTCCACTTCCAAAAGTAGACCACTAGGGTGTCACTGAAAGGTTTACAGAACTTTGTGTCACATGCAGCATTTAACCCAAAATATCCTTACAGGTCCTGAAAAAGGCTTGCTTGACTGTGGACCTTTACCAGATTTCCTTCTGGGAGAGTCATAGCTTTGTTAGTGGATGGTATCTGTGAGCTTTCATTCTCTTTCTTTCTAGGACAGTGATACCACCAAGAAGAAGAAGAAGAAGAAGAAAGCAAAAGAGGTAGAATTGGTTTCTGAGTAGTGAAGGCCACTTGAAGCTGGAGGAGAAACTAAAGCCTTATTGAGAAAACATGTTATAGATCCTTTTGTTGCTGAGAGAGTGGAACATAGGTCCTAGACAGGGTGAAGAGTTCTGGCACATTTTAGCTGCTACTTTGAGACCTCGGTGATGTTACCTGGTGTGGTCATCCCATCTTGTCCTGTTTTAAGGATATGGGTGGTGAAAGATGAAAGAGGCAGAGTTTATCCCAATGACTTCTCTGTTTGAGTTGGGAAGCCTCACCTTCAGACCCAGTAACTGTCCGCAGCTGTCTGCTAGTGGTTGTCTTAACATCGTAGTCCTAGTTTGCATTTTTTAAATCCCCTCTGTTTAAAAGGTTTGTAAAACAAAAACAAAAAACTAAGTCTGCTCAGTGAAATGCTGTAGAACCCTAAATAAGTGGTAGAAGAGTGTCACTGAATTTTGTCTCTGAATTCAGTATAACTGAGTTTTGTCCATGCTGGTGTCTGGGTTATAGGCCTGATGGGCCTGGTAGTTTTCCATCTTGTTCTGGCCTAGAGGTCAGTCCTTTGCACTTCCTCAAAGCTTGTGTACAGTGCTCACCTAAATCCATCTGACTACTTGTTCCTGTGCCCTCTTGTTTTAGGCCTCGTTTACTTTTAAAAAATGAAATTGTTCATTGCTGGGAGAAGAATGTTGTAATTTTTACTTATTAAAGTCAACTTGTTAAGTTTTTTATGTATTCCTGTTGGGTTTTCTTGTTGATCTCATGCTAGCAGAGCAAAAATTGTAAAATATTTTGATTAAAAATCTAGGGACCTTTATGTCCTATTTGAAATGTGATGCTTTTATGTTTGTTTTCTGGTTTTTACATTTTTGTTCTGTATCTTACACAATCCACCTTGGGCCCTGTCATCTGATGTGAGATCAAGTACTCAGAGGCAGTGATTACCACAAAACCACTGATCTCTAGAAGAACAGAGAAGGAGAGGGTTAATGTATTTATACATAGTGGGCCTGGCAGGAGCGGGGGGCAGGGTGAGTCGGGAGAACGAAGCTGAGGGTGGGGACATGCAGGAATCTGAAGGCCTTGGTGACAGATTAGTGGAAGAAAGGTCTAGGGTTGCTTCCGATTTGGTATTAAGAACCAAGAAAGAGGCCGGGTGCAATGGCTCACACCTATAATCCCAGTGCTTTGGGAGGCTGAGGCGGGCAGATCACCCGAGGTCAGGAGTCTGAGACCAGCCTGGGCCAACATGGCAAAACCCATCTCTACTACAAATACAAAAATTAGCCAGGTGTGGTGGCGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCCTGGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCCTGCCACTGCACTCCAGCCTGGCAAAACAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCGCTCTTGGATGCAGCGAGGCGAGGCCCTGAGCTGTAGCCATATCATGAGCCAGGCATGCAGGGTGGGCCCCAGCCCTGGCTCAGCGACCGGCCTCCACTGTACCACGGGACCCCAGGCTTGGATTTTCTCTCGTTCTAAATATGTGCCCACAATGAGCGCTCCACTAGCTACAACAACCTTAAGGGTGTTTTTCTACATGGGCACTAGCCAGTAGAGCCCTGCAGTGGGGGCAGAGAATGGGGACTCTTCCAGGGCACCAGTGTTTATCATCTGAACACAAGAGAGGCATCTTGTGTTAATGCTGTTGTCCAGGAGCTTAAGTGAAATGGGCCACATTTCTTTTTGTGTGGAAACCCAGAGTTACAAGGTCATTGGCATTTCAACACAGCATTTTTATTGCTTTTGAAGGTTTCCCTAGAGCAGACATCATTCTATTGCACAGATGTGTCATTTTGGCATTATAGAAAGTTGCAGTTAAAAACGCTTTCTCCAAAATAAAAAGACAAATGAAATACCCAGCATATACAGTTGAAGGCAAAGGAGGGCAG | GCAGGAGTATGTCAACAACAGGTGAGGATGGGAAGGTAGAGCCCACTTGCCATCTGGACGCAGGAGTACATGGACAACAGGTGAGGAACAGGTGAGCATGGAGGTTGTAGAGCCCAGGGGAGGGGGAGTCACTTGGTTTGGGGCAAACTTGCTAAATGCAGGACCACAGGAACCAGCTCTTCAGCTCCCGTGAGATTTTGGCTGCCCAGGCCAGTTAGGGGTGTGGGCCTGCACGGCAGACAGTTATCCCTTTCTAGTCTGGCTCGTGGGACTCTAGAGGGAGTCAGTCTGCAACAGTAAGTGGTGAGTTCTTCTGTCCAGCGTCAGTATTTTGATGGTGGCTTTAGACTTGCCAGATAACACTACATAACATCAGTACTGCCCTGGAAAGCCATTCAGTGAATTTGACCTATTGCTACCTCTTTTTCAGTGAGTCTGCCAAAAAAGAGGTGGTTGCTGAAGTGGTAAAAGCCCCGCAGGTAGTTGCCGAAGCAGCAAAAACTGCGAAGGTGAGTGGCATGCTGTCCTCAGTTTGGAATGTGCTTAGGGAGATAATCCTAAGAGGCACTGGCATTCGTCTTACTTTGTGACTGTCCGCAGTCCAGCCATATACGCTAGCATCAGAGGTGCAGCGCATACACAGGTAATGCTGCCTCATACCCTGGGGTGCTTGTTTGGGCTCTGCAGGCTCCTCTGATTTGTATTCTCTGTCCTATCTGCTGGGAGGAGGAATGTGGGCTCAGGAATCAGATGGGCCTCGACTCCTACCTCAGCTATGGCAGCAACACAGTGATGGAATGGGTGGTGGTGTGTGTGTCAATTCTGGCCCCCGCCCTGGGTCAAATGGTAGGACAGATGTGTTGAAATCAGAGGCCATGGCTGTTGGACATTCGAGGCCATACAAAATTCAGCAGAGAGCAGAATTGCATCTTAACCTGGCACCACCCAGTGTTGAAAGAGTCAGTCAAGCATGGGTTGGCAACTCCACCCCATGGAGCTGCTGGCATTAGAGCACAGAATGACAGGTCTGCACTCAGAAACCGGGGGCGGTACTGAGTATCCTGCACAGGCTGTGTGGGAGGAGCTTCTGACTTGTCAGATGTGAATTCCTGCTTTGCCTGCTTTCTGTGAGAGGTCCTTGCAGTCATGAGAGAAACAGCTCCTCCGGGCCTTTCCACCCCAAGCCCCGTGCTGCTGCTGTGCTCCTTCTCTTGTGCCTGCCTCAAGGCTTCTTGGATTTGGGGGATGAGACTGTCTTCAAATCCTCAGTAAACTAAGGCCCTGTCCGGGTTTGTAGTCAGAAAACGTCCTGTTAGATTCAGTTGGGATCTTTCTTGGTGCCTTGCTACCTTTTGACTCACTGAACCTTTCTTGTCCATTATTGCCCAAGATCTAACACTTAACCAATTGCTTTCATCTCAGCGGAAGCGAGAGAGTGAGAGTGAAAGTGACGAGACTCCTCCAGCAGCTCCTCAGTTGATCAAGAAGGAAAAGAAGAAGAGTAAGAAGGACAAGAAGGCCAAAGCTGGTCTGGAGAGCGGGGCCGAGCCTGGAGATGGGGTGTGTGGAAACACGTTCAGGTTCCTTGGGCTGGCTTAGTCCCTGCGTGGGGAAAGAATTACCCAGGTGGTACCAGCTTTGTTACTCTTCTTGGAGGAGCTGTGGCCTGGGGGTGGGATGCCACCGAGTGCCTTTAGTGCTTCCCCATGTTCCTGGAGTGCTTTTGCCCTCCCTGTGGAATGGACAGATAGAGGCACCCGACCTCTACCACTTATACTTAGAGCTCTATTGATGGTGGGTGGAGAGGATGTGTAGGATGGTGATCTGAATGTTTCCACTTCCAAAAGTAGACCACTAGGGTGTCACTGAAAGGTTTACAGAACTTTGTGTCACATGCAGCATTTAACCCAAAATATCCTTACAGGTCCTGAAAAAGGCTTGCTTGACTGTGGACCTTTACCAGATTTCCTTCTGGGAGAGTCATAGCTTTGTTAGTGGATGGTATCTGTGAGCTTTCATTCTCTTTCTTTCTAGGACAGTGATACCACCAAGAAGAAGAAGAAGAAGAAGAAGAAAGCAAAAGAGGTAGAATTGGTTTCTGAGTAGTGAAGGCCACTTGAAGCTGGAGGAGAAACTAAAGCCTTATTGAGAAAACATGTTATAGATCCTTTTGTTGCTGAGAGAGTGGAACATAGGTCCTAGACAGGGTGAAGAGTTCTGGCACATTTTAGCTGCTACTTTGAGACCTCGGTGATGTTACCTGGTGTGGTCATCCCATCTTGTCCTGTTTTAAGGATATGGGTGGTGAAAGATGAAAGAGGCAGAGTTTATCCCAATGACTTCTCTGTTTGAGTTGGGAAGCCTCACCTTCAGACCCAGTAACTGTCCGCAGCTGTCTGCTAGTGGTTGTCTTAACATCGTAGTCCTAGTTTGCATTTTTTAAATCCCCTCTGTTTAAAAGGTTTGTAAAACAAAAACAAAAAACTAAGTCTGCTCAGTGAAATGCTGTAGAACCCTAAATAAGTGGTAGAAGAGTGTCACTGAATTTTGTCTCTGAATTCAGTATAACTGAGTTTTGTCCATGCTGGTGTCTGGGTTATAGGCCTGATGGGCCTGGTAGTTTTCCATCTTGTTCTGGCCTAGAGGTCAGTCCTTTGCACTTCCTCAAAGCTTGTGTACAGTGCTCACCTAAATCCATCTGACTACTTGTTCCTGTGCCCTCTTGTTTTAGGCCTCGTTTACTTTTAAAAAATGAAATTGTTCATTGCTGGGAGAAGAATGTTGTAATTTTTACTTATTAAAGTCAACTTGTTAAGTTTTTTATGTATTCCTGTTGGGTTTTCTTGTTGATCTCATGCTAGCAGAGCAAAAATTGTAAAATATTTTGATTAAAAATCTAGGGACCTTTATGTCCTATTTGAAATGTGATGCTTTTATGTTTGTTTTCTGGTTTTTACATTTTTGTTCTGTATCTTACACAATCCACCTTGGGCCCTGTCATCTGATGTGAGATCAAGTACTCAGAGGCAGTGATTACCACAAAACCACTGATCTCTAGAAGAACAGAGAAGGAGAGGGTTAATGTATTTATACATAGTGGGCCTGGCAGGAGCGGGGGGCAGGGTGAGTCGGGAGAACGAAGCTGAGGGTGGGGACATGCAGGAATCTGAAGGCCTTGGTGACAGATTAGTGGAAGAAAGGTCTAGGGTTGCTTCCGATTTGGTATTAAGAACCAAGAAAGAGGCCGGGTGCAATGGCTCACACCTATAATCCCAGTGCTTTGGGAGGCTGAGGCGGGCAGATCACCCGAGGTCAGGAGTCTGAGACCAGCCTGGGCCAACATGGCAAAACCCATCTCTACTACAAATACAAAAATTAGCCAGGTGTGGTGGCGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCCTGGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCCTGCCACTGCACTCCAGCCTGGCAAAACAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCGCTCTTGGATGCAGCGAGGCGAGGCCCTGAGCTGTAGCCATATCATGAGCCAGGCATGCAGGGTGGGCCCCAGCCCTGGCTCAGCGACCGGCCTCCACTGTACCACGGGACCCCAGGCTTGGATTTTCTCTCGTTCTAAATATGTGCCCACAATGAGCGCTCCACTAGCTACAACAACCTTAAGGGTGTTTTTCTACATGGGCACTAGCCAGTAGAGCCCTGCAGTGGGGGCAGAGAATGGGGACTCTTCCAGGGCACCAGTGTTTATCATCTGAACACAAGAGAGGCATCTTGTGTTAATGCTGTTGTCCAGGAGCTTAAGTGAAATGGGCCACATTTCTTTTTGTGTGGAAACCCAGAGTTACAAGGTCATTGGCATTTCAACACAGCATTTTTATTGCTTTTGAAGGTTTCCCTAGAGCAGACATCATTCTATTGCACAGATGTGTCATTTTGGCATTATAGAAAGTTGCAGTTAAAAACGCTTTCTCCAAAATAAAAAGACAAATGAAATACCCAGCATATACAGTTGAAGGCAAAGGAGGG | benign | 342,521 |
Subsets and Splits
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