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