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 |
|---|---|---|---|---|---|
Chromosome 9, position 108880103, gene ELP1 (elongator acetyltransferase complex subunit 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_dysautonomia', 'Medulloblastoma'] | CAACTGCAGCGTATCTTCAAAGGCCTTCTGTAATTCCCTTCCTTGTTCATCAAACTCAAAGAGAAAGAGTACCTTTAAAATATGGTATACTTCATCTAGAGAGAAGAAATTTGAAAGAGTGGTAAGTTATATTCCCAGCTCCATTGACAGAATCATACATAGCTTCTATCCAAAGCCAAAAATTTCTATGATCCCACTGCAGGTCCTTTCTCCCACATTATCTTTTTTCTTCCCAAATGCTGGAATAATTAAACACATGTACTACAAAAAGAAAATCAAGCACGCTGGGGGGCCTACGCAGAAAGCAGTGTCCCACAATTCTTTATCCTGGCCTAAGCATCTCTCCCAGTTCAGTTAGGGGGATGCCAAATGGAGGAAGGCTTCTCAGTTACCAGCTAAGAAGGGCTGCTTCAGGAATGTGTGCAGACATGACCCTTCCTGCTAAAAGTTCTCATCTTTCCTCAAATTGGGAAAATGGTAGCTTAATCACCTACTGAACTCTGCCTGTCTGTACTGCCTATTCACTATTGTTTGTGGTCAGGAATCATCATCAGGACTGAGAATATACCTTTCAGGTTTTCAGTGTTCTGCACCACTTCACTCAGTGCCTCCAGGAGGGCCAGGTCCTCCAGCGGACTGCCTTCTTTGAGGCTGTGCTTCTTCCGCTCCGCTTTTCGGCGATTCTTGGATGATCTCCTGTTAGAAATTACACAGATATTTTTAAGCCTCCTGAGTAGCTAGGACTACAGGCATGTGCTACCTTGCCTGGCTACTTTCTTGCAGTTGCTGATGACCCCACACAACTTCACAGATCTCCATTTTAAATTCCTAAAGCAAAATTCAGTTTGAATATATAATCTTGCATTGCTTTACACATCCCAAGCAAGACTATAAACTCTTATAACTCATATCTCCTTATAAGTTTTTGGTAACATCTACTGCACCTACCATATGAGTGCTGAATAAATATTTCTGACAAATTACTATATTTGGTAAAAGTGTTATGACTTATTTTACATTTATGGTCTCTTCCAATCCTGATTTTGAATTGAAGAAGCTTATCTTTTCATTTTTTCAGTGCCTATAATTTAGTCACAACATTTGTTCAAAAAATAAAATCAGATGTTAATATAAACTGAGCATTCAGGGGAGGAACTGCCTCGTGGGGAATGGGAAAACACACAAGCCACAAGGCTGAGGAAGAAAACCTTCCAATGCCAAGTTTAATGTCTCAGATATGCTGGGAAAGTGTCTGAACAACTTCCACACAGCGCTGAAGAATATTCTCCCCACTCCCACTACACCGTCCCAGTAGAAAACCAATCTATTTGCTTCCACTTTCCCTATATGCCCAGGATATAGTCAATGTGCTGAATCAATGTGATACGTACGCTGATATCCTGGAGTTACTATGGGAGTATTTGCCACTCATCTCACTGCCACTCACGACACTGCTAGTTTCAGAGAAGAGGTCTGACTCTTGCCCGTGGGGTACCTCATCATCTAGAAAAGAAGAACCAGAAGCCGATGAAAACACTGCCTGCTAATGTGTGGGTTTACTTTCAGGGCGGTAAATGAACTAACTAGAGTCAACTGGTGCATATCAAAGGATGGATGAAAATGATTGCAAAGTTGATCTCAAAATGAATGAGATAATATTAAATACAGTAATTACTAATGTAAATCAGTAGTTTCCTGAACTTTTTTCTGGAAATGAGGAAACTCATTTTGTTAGACACGGAAGTGGTCAGCTGCTCTGGGTGAATGGGGGTAGGTGGGAATGTCTGGCAGAGCTCTCCCCATTCATGCTTGGTCCTGCCCTTCACCAACACACAAACACAGACACAGAGGGCCCTGAAGGGGCTCCACAGAAGCCTCACACTTGCCCATGGCACAGTAATCAGATTGCAGGCGGATCACCAAGCAATCTAGACAATGTGTGGCGTTACCCAACCCCACTGCCCCCGCACGTCGATGGCCTTCACGCAGATACTCACCCAGACCTGCCTGCTGGGCTTGCTCCTTGAGCTCTCGAACTACCAATAAACGTTTCTTGTGGCGACTGAATGTGGCTGTCTGAGAGTCCAGAAATGCCATATAATTTTTCTGGGCTGGAGATGCAGAATGGAAAATAGTTTGAGCATGAGGTTTAAGCAAAGAGAAAAAACTAAAGGCGGGGAGCAGTGAAGGAGGGTTAAAATTCAGCAAAAAGAAAGAGGTTACTAGGTTTTCCAAGCGAGCTCTTTTTCCTTAATAAGCATTAACAAATTAGAGACTGAGATTCCAGATCTTAGAGTTCATCAACATTATCCCAGAATATGCGCTACCACTGAACTTGTAAAATCACCTGAACGAAGACTTGATACCTAAAGCAAGGGAGGATTGGCAAAACAAACAAACAAACAAAACAAACAAACAAAAAAAGGGGGGGTAGGGGAGGGGAGCTCAGTTAACAAAAATAAGAAGAAAATTACCTAAATGTTTCTGGCTAAACATCCATCAAAATGCCCATGGATGTGGAAAAAATGTATCTAATAAATATTGTCCAATGGAAAAATACACAAGAGAAAAATAACACTAGTAGAATACATTTTAAAAAAGCAAAATACTACTATCCAAGGATGCATTTTATTAATAGGTTTTGGGCCTATGTAGATGAATTATCGGCATTTATCTAAGAAAGGTTCTCATTAGTGGTGAAAATCTAAGTAAGAGCTGGTTAGATTATTATAGATGAGGAATGATGTTTTCAGTACCCAGTTAGAGGTACCTAAAGTGAATGACATAAAAAGTACCCCAGCAACGTTTTAATTAGGATGGAGGAAGGGGGTGCAGACAAGGTAAGAATGTGCATACATGTAAATGTCAGAAAGGCCAGACGTTACTTACAGGGTAGATGTGCATAAAAATGCAGAACTTAAAATCAACCACTCCCTAAGGTTTCTATAAGTCAAACTGATGTCCTTCTCCACTTTGCTTTTAAGAGGTCACAGTGACCATCTGAGTATTCTAGAACTGGTAATATTCATATGTTCTCTAAGAACCACAAACTTCATTTGAAAAGGTAACTTTTAAAAAATACTTTGAAACGTTGAAACCTACATAAAAGTTGTAAGAGTTCAATGAACACACATATACCCTTTACTTTGATTTACCAATTACTAACATTTTGACATTTTTTTGCTTCCTGTTTCTCTGCATGCATACACACATTCATTAATACTTTTGTGGAACCTTTTAAGAGTAAGGCAGAGATATGATCCTTCATTCCTAAATATTTCAGCATTTATCTCTTGAGAATAATAGGATATTATCTTATATAACCACAACATGATTATTAAATGCCAGAAATTTATCAGTGTTATATTATTATCTAATATAGTTCATATTCAAGTTTACTATTTCCAAATACAAAGATTCTTAATCATATTTGATCACAGGTTTCTAACATTTAAATATTTTGTTACCATTTAATAGTTCAGCATATTTAAAAATTCTAGTGAGAATTAAATATTATATCCAGGTGGTAATTTTGATTGAGTCTACATGACATATTATTAAGAAAACACAGTAAATAGGAGGAGACTCTCTCATCTCTCTCTCCTCACCTTCTTCCAAATGAGGAATTCTATCTAAAATGGAACCCTCACCTTCTAAAATGGAAGGCTTTACGTTGGTTTCTATAATATCCAGTCTGTTATATTTGTATACCTAGAAGGAAAAACACAATAATTTTAGGAAGGAAAACTTCTAGTCACTGGAGAGTTAAGATACTTAGAAAGACATGGATTACTTTCAGAGGTAATCAGAATATTTTCCTGAAAAACAGGCCTCCTACAAGGCAGCCAAGGAAATTCAATTCATTTCAGTAAAAGACAGTAATATTTCAAATTATTATCAAGAATGATAAAAATGATTTTAAAAACACCGCTTTTCCTTAAGCCAGGAACCTGACCTATTTCTACTTATTTCATGAACCTCAGAAGACAAGAGATTCCAACTGACCTGGAATCCCTTGCTTGCTCTCTCTGCTTAGCACCCAACATCCAGAGGATTTACAAGATTCTTACCAGCCTCAAAGCTTCTTCCCAGGCAG | CAACTGCAGCGTATCTTCAAAGGCCTTCTGTAATTCCCTTCCTTGTTCATCAAACTCAAAGAGAAAGAGTACCTTTAAAATATGGTATACTTCATCTAGAGAGAAGAAATTTGAAAGAGTGGTAAGTTATATTCCCAGCTCCATTGACAGAATCATACATAGCTTCTATCCAAAGCCAAAAATTTCTATGATCCCACTGCAGGTCCTTTCTCCCACATTATCTTTTTTCTTCCCAAATGCTGGAATAATTAAACACATGTACTACAAAAAGAAAATCAAGCACGCTGGGGGGCCTACGCAGAAAGCAGTGTCCCACAATTCTTTATCCTGGCCTAAGCATCTCTCCCAGTTCAGTTAGGGGGATGCCAAATGGAGGAAGGCTTCTCAGTTACCAGCTAAGAAGGGCTGCTTCAGGAATGTGTGCAGACATGACCCTTCCTGCTAAAAGTTCTCATCTTTCCTCAAATTGGGAAAATGGTAGCTTAATCACCTACTGAACTCTGCCTGTCTGTACTGCCTATTCACTATTGTTTGTGGTCAGGAATCATCATCAGGACTGAGAATATACCTTTCAGGTTTTCAGTGTTCTGCACCACTTCACTCAGTGCCTCCAGGAGGGCCAGGTCCTCCAGCGGACTGCCTTCTTTGAGGCTGTGCTTCTTCCGCTCCGCTTTTCGGCGATTCTTGGATGATCTCCTGTTAGAAATTACACAGATATTTTTAAGCCTCCTGAGTAGCTAGGACTACAGGCATGTGCTACCTTGCCTGGCTACTTTCTTGCAGTTGCTGATGACCCCACACAACTTCACAGATCTCCATTTTAAATTCCTAAAGCAAAATTCAGTTTGAATATATAATCTTGCATTGCTTTACACATCCCAAGCAAGACTATAAACTCTTATAACTCATATCTCCTTATAAGTTTTTGGTAACATCTACTGCACCTACCATATGAGTGCTGAATAAATATTTCTGACAAATTACTATATTTGGTAAAAGTGTTATGACTTATTTTACATTTATGGTCTCTTCCAATCCTGATTTTGAATTGAAGAAGCTTATCTTTTCATTTTTTCAGTGCCTATAATTTAGTCACAACATTTGTTCAAAAAATAAAATCAGATGTTAATATAAACTGAGCATTCAGGGGAGGAACTGCCTCGTGGGGAATGGGAAAACACACAAGCCACAAGGCTGAGGAAGAAAACCTTCCAATGCCAAGTTTAATGTCTCAGATATGCTGGGAAAGTGTCTGAACAACTTCCACACAGCGCTGAAGAATATTCTCCCCACTCCCACTACACCGTCCCAGTAGAAAACCAATCTATTTGCTTCCACTTTCCCTATATGCCCAGGATATAGTCAATGTGCTGAATCAATGTGATACGTACGCTGATATCCTGGAGTTACTATGGGAGTATTTGCCACTCATCTCACTGCCACTCACGACACTGCTAGTTTCAGAGAAGAGGTCTGACTCTTGCCCGTGGGGTACCTCATCATCTAGAAAAGAAGAACCAGAAGCCGATGAAAACACTGCCTGCTAATGTGTGGGTTTACTTTCAGGGCGGTAAATGAACTAACTAGAGTCAACTGGTGCATATCAAAGGATGGATGAAAATGATTGCAAAGTTGATCTCAAAATGAATGAGATAATATTAAATACAGTAATTACTAATGTAAATCAGTAGTTTCCTGAACTTTTTTCTGGAAATGAGGAAACTCATTTTGTTAGACACGGAAGTGGTCAGCTGCTCTGGGTGAATGGGGGTAGGTGGGAATGTCTGGCAGAGCTCTCCCCATTCATGCTTGGTCCTGCCCTTCACCAACACACAAACACAGACACAGAGGGCCCTGAAGGGGCTCCACAGAAGCCTCACACTTGCCCATGGCACAGTAATCAGATTGCAGGCGGATCACCAAGCAATCTAGACAATGTGTGGCGTTACCCAACCCCACTGCCCCCGCACGTCGATGGCCTTCACGCAGATACTCACCCAGACCTGCCTGCTGGGCTTGCTCCTTGAGCTCTCGAACTACCAATAAACGTTCTTGTGGCGACTGAATGTGGCTGTCTGAGAGTCCAGAAATGCCATATAATTTTTCTGGGCTGGAGATGCAGAATGGAAAATAGTTTGAGCATGAGGTTTAAGCAAAGAGAAAAAACTAAAGGCGGGGAGCAGTGAAGGAGGGTTAAAATTCAGCAAAAAGAAAGAGGTTACTAGGTTTTCCAAGCGAGCTCTTTTTCCTTAATAAGCATTAACAAATTAGAGACTGAGATTCCAGATCTTAGAGTTCATCAACATTATCCCAGAATATGCGCTACCACTGAACTTGTAAAATCACCTGAACGAAGACTTGATACCTAAAGCAAGGGAGGATTGGCAAAACAAACAAACAAACAAAACAAACAAACAAAAAAAGGGGGGGTAGGGGAGGGGAGCTCAGTTAACAAAAATAAGAAGAAAATTACCTAAATGTTTCTGGCTAAACATCCATCAAAATGCCCATGGATGTGGAAAAAATGTATCTAATAAATATTGTCCAATGGAAAAATACACAAGAGAAAAATAACACTAGTAGAATACATTTTAAAAAAGCAAAATACTACTATCCAAGGATGCATTTTATTAATAGGTTTTGGGCCTATGTAGATGAATTATCGGCATTTATCTAAGAAAGGTTCTCATTAGTGGTGAAAATCTAAGTAAGAGCTGGTTAGATTATTATAGATGAGGAATGATGTTTTCAGTACCCAGTTAGAGGTACCTAAAGTGAATGACATAAAAAGTACCCCAGCAACGTTTTAATTAGGATGGAGGAAGGGGGTGCAGACAAGGTAAGAATGTGCATACATGTAAATGTCAGAAAGGCCAGACGTTACTTACAGGGTAGATGTGCATAAAAATGCAGAACTTAAAATCAACCACTCCCTAAGGTTTCTATAAGTCAAACTGATGTCCTTCTCCACTTTGCTTTTAAGAGGTCACAGTGACCATCTGAGTATTCTAGAACTGGTAATATTCATATGTTCTCTAAGAACCACAAACTTCATTTGAAAAGGTAACTTTTAAAAAATACTTTGAAACGTTGAAACCTACATAAAAGTTGTAAGAGTTCAATGAACACACATATACCCTTTACTTTGATTTACCAATTACTAACATTTTGACATTTTTTTGCTTCCTGTTTCTCTGCATGCATACACACATTCATTAATACTTTTGTGGAACCTTTTAAGAGTAAGGCAGAGATATGATCCTTCATTCCTAAATATTTCAGCATTTATCTCTTGAGAATAATAGGATATTATCTTATATAACCACAACATGATTATTAAATGCCAGAAATTTATCAGTGTTATATTATTATCTAATATAGTTCATATTCAAGTTTACTATTTCCAAATACAAAGATTCTTAATCATATTTGATCACAGGTTTCTAACATTTAAATATTTTGTTACCATTTAATAGTTCAGCATATTTAAAAATTCTAGTGAGAATTAAATATTATATCCAGGTGGTAATTTTGATTGAGTCTACATGACATATTATTAAGAAAACACAGTAAATAGGAGGAGACTCTCTCATCTCTCTCTCCTCACCTTCTTCCAAATGAGGAATTCTATCTAAAATGGAACCCTCACCTTCTAAAATGGAAGGCTTTACGTTGGTTTCTATAATATCCAGTCTGTTATATTTGTATACCTAGAAGGAAAAACACAATAATTTTAGGAAGGAAAACTTCTAGTCACTGGAGAGTTAAGATACTTAGAAAGACATGGATTACTTTCAGAGGTAATCAGAATATTTTCCTGAAAAACAGGCCTCCTACAAGGCAGCCAAGGAAATTCAATTCATTTCAGTAAAAGACAGTAATATTTCAAATTATTATCAAGAATGATAAAAATGATTTTAAAAACACCGCTTTTCCTTAAGCCAGGAACCTGACCTATTTCTACTTATTTCATGAACCTCAGAAGACAAGAGATTCCAACTGACCTGGAATCCCTTGCTTGCTCTCTCTGCTTAGCACCCAACATCCAGAGGATTTACAAGATTCTTACCAGCCTCAAAGCTTCTTCCCAGGCAGN | pathogenic | 148,805 |
Clinical impact (benign or pathogenic) of the variant at chromosome 9, location 108880126, gene ELP1 (elongator acetyltransferase complex subunit 1): what disease(s) if pathogenic? | pathogenic; ['Familial_dysautonomia', 'Medulloblastoma'] | CCTTCTGTAATTCCCTTCCTTGTTCATCAAACTCAAAGAGAAAGAGTACCTTTAAAATATGGTATACTTCATCTAGAGAGAAGAAATTTGAAAGAGTGGTAAGTTATATTCCCAGCTCCATTGACAGAATCATACATAGCTTCTATCCAAAGCCAAAAATTTCTATGATCCCACTGCAGGTCCTTTCTCCCACATTATCTTTTTTCTTCCCAAATGCTGGAATAATTAAACACATGTACTACAAAAAGAAAATCAAGCACGCTGGGGGGCCTACGCAGAAAGCAGTGTCCCACAATTCTTTATCCTGGCCTAAGCATCTCTCCCAGTTCAGTTAGGGGGATGCCAAATGGAGGAAGGCTTCTCAGTTACCAGCTAAGAAGGGCTGCTTCAGGAATGTGTGCAGACATGACCCTTCCTGCTAAAAGTTCTCATCTTTCCTCAAATTGGGAAAATGGTAGCTTAATCACCTACTGAACTCTGCCTGTCTGTACTGCCTATTCACTATTGTTTGTGGTCAGGAATCATCATCAGGACTGAGAATATACCTTTCAGGTTTTCAGTGTTCTGCACCACTTCACTCAGTGCCTCCAGGAGGGCCAGGTCCTCCAGCGGACTGCCTTCTTTGAGGCTGTGCTTCTTCCGCTCCGCTTTTCGGCGATTCTTGGATGATCTCCTGTTAGAAATTACACAGATATTTTTAAGCCTCCTGAGTAGCTAGGACTACAGGCATGTGCTACCTTGCCTGGCTACTTTCTTGCAGTTGCTGATGACCCCACACAACTTCACAGATCTCCATTTTAAATTCCTAAAGCAAAATTCAGTTTGAATATATAATCTTGCATTGCTTTACACATCCCAAGCAAGACTATAAACTCTTATAACTCATATCTCCTTATAAGTTTTTGGTAACATCTACTGCACCTACCATATGAGTGCTGAATAAATATTTCTGACAAATTACTATATTTGGTAAAAGTGTTATGACTTATTTTACATTTATGGTCTCTTCCAATCCTGATTTTGAATTGAAGAAGCTTATCTTTTCATTTTTTCAGTGCCTATAATTTAGTCACAACATTTGTTCAAAAAATAAAATCAGATGTTAATATAAACTGAGCATTCAGGGGAGGAACTGCCTCGTGGGGAATGGGAAAACACACAAGCCACAAGGCTGAGGAAGAAAACCTTCCAATGCCAAGTTTAATGTCTCAGATATGCTGGGAAAGTGTCTGAACAACTTCCACACAGCGCTGAAGAATATTCTCCCCACTCCCACTACACCGTCCCAGTAGAAAACCAATCTATTTGCTTCCACTTTCCCTATATGCCCAGGATATAGTCAATGTGCTGAATCAATGTGATACGTACGCTGATATCCTGGAGTTACTATGGGAGTATTTGCCACTCATCTCACTGCCACTCACGACACTGCTAGTTTCAGAGAAGAGGTCTGACTCTTGCCCGTGGGGTACCTCATCATCTAGAAAAGAAGAACCAGAAGCCGATGAAAACACTGCCTGCTAATGTGTGGGTTTACTTTCAGGGCGGTAAATGAACTAACTAGAGTCAACTGGTGCATATCAAAGGATGGATGAAAATGATTGCAAAGTTGATCTCAAAATGAATGAGATAATATTAAATACAGTAATTACTAATGTAAATCAGTAGTTTCCTGAACTTTTTTCTGGAAATGAGGAAACTCATTTTGTTAGACACGGAAGTGGTCAGCTGCTCTGGGTGAATGGGGGTAGGTGGGAATGTCTGGCAGAGCTCTCCCCATTCATGCTTGGTCCTGCCCTTCACCAACACACAAACACAGACACAGAGGGCCCTGAAGGGGCTCCACAGAAGCCTCACACTTGCCCATGGCACAGTAATCAGATTGCAGGCGGATCACCAAGCAATCTAGACAATGTGTGGCGTTACCCAACCCCACTGCCCCCGCACGTCGATGGCCTTCACGCAGATACTCACCCAGACCTGCCTGCTGGGCTTGCTCCTTGAGCTCTCGAACTACCAATAAACGTTTCTTGTGGCGACTGAATGTGGCTGTCTGAGAGTCCAGAAATGCCATATAATTTTTCTGGGCTGGAGATGCAGAATGGAAAATAGTTTGAGCATGAGGTTTAAGCAAAGAGAAAAAACTAAAGGCGGGGAGCAGTGAAGGAGGGTTAAAATTCAGCAAAAAGAAAGAGGTTACTAGGTTTTCCAAGCGAGCTCTTTTTCCTTAATAAGCATTAACAAATTAGAGACTGAGATTCCAGATCTTAGAGTTCATCAACATTATCCCAGAATATGCGCTACCACTGAACTTGTAAAATCACCTGAACGAAGACTTGATACCTAAAGCAAGGGAGGATTGGCAAAACAAACAAACAAACAAAACAAACAAACAAAAAAAGGGGGGGTAGGGGAGGGGAGCTCAGTTAACAAAAATAAGAAGAAAATTACCTAAATGTTTCTGGCTAAACATCCATCAAAATGCCCATGGATGTGGAAAAAATGTATCTAATAAATATTGTCCAATGGAAAAATACACAAGAGAAAAATAACACTAGTAGAATACATTTTAAAAAAGCAAAATACTACTATCCAAGGATGCATTTTATTAATAGGTTTTGGGCCTATGTAGATGAATTATCGGCATTTATCTAAGAAAGGTTCTCATTAGTGGTGAAAATCTAAGTAAGAGCTGGTTAGATTATTATAGATGAGGAATGATGTTTTCAGTACCCAGTTAGAGGTACCTAAAGTGAATGACATAAAAAGTACCCCAGCAACGTTTTAATTAGGATGGAGGAAGGGGGTGCAGACAAGGTAAGAATGTGCATACATGTAAATGTCAGAAAGGCCAGACGTTACTTACAGGGTAGATGTGCATAAAAATGCAGAACTTAAAATCAACCACTCCCTAAGGTTTCTATAAGTCAAACTGATGTCCTTCTCCACTTTGCTTTTAAGAGGTCACAGTGACCATCTGAGTATTCTAGAACTGGTAATATTCATATGTTCTCTAAGAACCACAAACTTCATTTGAAAAGGTAACTTTTAAAAAATACTTTGAAACGTTGAAACCTACATAAAAGTTGTAAGAGTTCAATGAACACACATATACCCTTTACTTTGATTTACCAATTACTAACATTTTGACATTTTTTTGCTTCCTGTTTCTCTGCATGCATACACACATTCATTAATACTTTTGTGGAACCTTTTAAGAGTAAGGCAGAGATATGATCCTTCATTCCTAAATATTTCAGCATTTATCTCTTGAGAATAATAGGATATTATCTTATATAACCACAACATGATTATTAAATGCCAGAAATTTATCAGTGTTATATTATTATCTAATATAGTTCATATTCAAGTTTACTATTTCCAAATACAAAGATTCTTAATCATATTTGATCACAGGTTTCTAACATTTAAATATTTTGTTACCATTTAATAGTTCAGCATATTTAAAAATTCTAGTGAGAATTAAATATTATATCCAGGTGGTAATTTTGATTGAGTCTACATGACATATTATTAAGAAAACACAGTAAATAGGAGGAGACTCTCTCATCTCTCTCTCCTCACCTTCTTCCAAATGAGGAATTCTATCTAAAATGGAACCCTCACCTTCTAAAATGGAAGGCTTTACGTTGGTTTCTATAATATCCAGTCTGTTATATTTGTATACCTAGAAGGAAAAACACAATAATTTTAGGAAGGAAAACTTCTAGTCACTGGAGAGTTAAGATACTTAGAAAGACATGGATTACTTTCAGAGGTAATCAGAATATTTTCCTGAAAAACAGGCCTCCTACAAGGCAGCCAAGGAAATTCAATTCATTTCAGTAAAAGACAGTAATATTTCAAATTATTATCAAGAATGATAAAAATGATTTTAAAAACACCGCTTTTCCTTAAGCCAGGAACCTGACCTATTTCTACTTATTTCATGAACCTCAGAAGACAAGAGATTCCAACTGACCTGGAATCCCTTGCTTGCTCTCTCTGCTTAGCACCCAACATCCAGAGGATTTACAAGATTCTTACCAGCCTCAAAGCTTCTTCCCAGGCAGCTCCTTCTAACAGCAAGAGCACA | CCTTCTGTAATTCCCTTCCTTGTTCATCAAACTCAAAGAGAAAGAGTACCTTTAAAATATGGTATACTTCATCTAGAGAGAAGAAATTTGAAAGAGTGGTAAGTTATATTCCCAGCTCCATTGACAGAATCATACATAGCTTCTATCCAAAGCCAAAAATTTCTATGATCCCACTGCAGGTCCTTTCTCCCACATTATCTTTTTTCTTCCCAAATGCTGGAATAATTAAACACATGTACTACAAAAAGAAAATCAAGCACGCTGGGGGGCCTACGCAGAAAGCAGTGTCCCACAATTCTTTATCCTGGCCTAAGCATCTCTCCCAGTTCAGTTAGGGGGATGCCAAATGGAGGAAGGCTTCTCAGTTACCAGCTAAGAAGGGCTGCTTCAGGAATGTGTGCAGACATGACCCTTCCTGCTAAAAGTTCTCATCTTTCCTCAAATTGGGAAAATGGTAGCTTAATCACCTACTGAACTCTGCCTGTCTGTACTGCCTATTCACTATTGTTTGTGGTCAGGAATCATCATCAGGACTGAGAATATACCTTTCAGGTTTTCAGTGTTCTGCACCACTTCACTCAGTGCCTCCAGGAGGGCCAGGTCCTCCAGCGGACTGCCTTCTTTGAGGCTGTGCTTCTTCCGCTCCGCTTTTCGGCGATTCTTGGATGATCTCCTGTTAGAAATTACACAGATATTTTTAAGCCTCCTGAGTAGCTAGGACTACAGGCATGTGCTACCTTGCCTGGCTACTTTCTTGCAGTTGCTGATGACCCCACACAACTTCACAGATCTCCATTTTAAATTCCTAAAGCAAAATTCAGTTTGAATATATAATCTTGCATTGCTTTACACATCCCAAGCAAGACTATAAACTCTTATAACTCATATCTCCTTATAAGTTTTTGGTAACATCTACTGCACCTACCATATGAGTGCTGAATAAATATTTCTGACAAATTACTATATTTGGTAAAAGTGTTATGACTTATTTTACATTTATGGTCTCTTCCAATCCTGATTTTGAATTGAAGAAGCTTATCTTTTCATTTTTTCAGTGCCTATAATTTAGTCACAACATTTGTTCAAAAAATAAAATCAGATGTTAATATAAACTGAGCATTCAGGGGAGGAACTGCCTCGTGGGGAATGGGAAAACACACAAGCCACAAGGCTGAGGAAGAAAACCTTCCAATGCCAAGTTTAATGTCTCAGATATGCTGGGAAAGTGTCTGAACAACTTCCACACAGCGCTGAAGAATATTCTCCCCACTCCCACTACACCGTCCCAGTAGAAAACCAATCTATTTGCTTCCACTTTCCCTATATGCCCAGGATATAGTCAATGTGCTGAATCAATGTGATACGTACGCTGATATCCTGGAGTTACTATGGGAGTATTTGCCACTCATCTCACTGCCACTCACGACACTGCTAGTTTCAGAGAAGAGGTCTGACTCTTGCCCGTGGGGTACCTCATCATCTAGAAAAGAAGAACCAGAAGCCGATGAAAACACTGCCTGCTAATGTGTGGGTTTACTTTCAGGGCGGTAAATGAACTAACTAGAGTCAACTGGTGCATATCAAAGGATGGATGAAAATGATTGCAAAGTTGATCTCAAAATGAATGAGATAATATTAAATACAGTAATTACTAATGTAAATCAGTAGTTTCCTGAACTTTTTTCTGGAAATGAGGAAACTCATTTTGTTAGACACGGAAGTGGTCAGCTGCTCTGGGTGAATGGGGGTAGGTGGGAATGTCTGGCAGAGCTCTCCCCATTCATGCTTGGTCCTGCCCTTCACCAACACACAAACACAGACACAGAGGGCCCTGAAGGGGCTCCACAGAAGCCTCACACTTGCCCATGGCACAGTAATCAGATTGCAGGCGGATCACCAAGCAATCTAGACAATGTGTGGCGTTACCCAACCCCACTGCCCCCGCACGTCGATGGCCTTCACGCAGATACTCACCCAGACCTGCCTGCTGGGCTTGCTCCTTGAGCTCTCGAACTACCAATAAACGTTTCTTGTGGCGACTGAATGTGGCTGAGAGTCCAGAAATGCCATATAATTTTTCTGGGCTGGAGATGCAGAATGGAAAATAGTTTGAGCATGAGGTTTAAGCAAAGAGAAAAAACTAAAGGCGGGGAGCAGTGAAGGAGGGTTAAAATTCAGCAAAAAGAAAGAGGTTACTAGGTTTTCCAAGCGAGCTCTTTTTCCTTAATAAGCATTAACAAATTAGAGACTGAGATTCCAGATCTTAGAGTTCATCAACATTATCCCAGAATATGCGCTACCACTGAACTTGTAAAATCACCTGAACGAAGACTTGATACCTAAAGCAAGGGAGGATTGGCAAAACAAACAAACAAACAAAACAAACAAACAAAAAAAGGGGGGGTAGGGGAGGGGAGCTCAGTTAACAAAAATAAGAAGAAAATTACCTAAATGTTTCTGGCTAAACATCCATCAAAATGCCCATGGATGTGGAAAAAATGTATCTAATAAATATTGTCCAATGGAAAAATACACAAGAGAAAAATAACACTAGTAGAATACATTTTAAAAAAGCAAAATACTACTATCCAAGGATGCATTTTATTAATAGGTTTTGGGCCTATGTAGATGAATTATCGGCATTTATCTAAGAAAGGTTCTCATTAGTGGTGAAAATCTAAGTAAGAGCTGGTTAGATTATTATAGATGAGGAATGATGTTTTCAGTACCCAGTTAGAGGTACCTAAAGTGAATGACATAAAAAGTACCCCAGCAACGTTTTAATTAGGATGGAGGAAGGGGGTGCAGACAAGGTAAGAATGTGCATACATGTAAATGTCAGAAAGGCCAGACGTTACTTACAGGGTAGATGTGCATAAAAATGCAGAACTTAAAATCAACCACTCCCTAAGGTTTCTATAAGTCAAACTGATGTCCTTCTCCACTTTGCTTTTAAGAGGTCACAGTGACCATCTGAGTATTCTAGAACTGGTAATATTCATATGTTCTCTAAGAACCACAAACTTCATTTGAAAAGGTAACTTTTAAAAAATACTTTGAAACGTTGAAACCTACATAAAAGTTGTAAGAGTTCAATGAACACACATATACCCTTTACTTTGATTTACCAATTACTAACATTTTGACATTTTTTTGCTTCCTGTTTCTCTGCATGCATACACACATTCATTAATACTTTTGTGGAACCTTTTAAGAGTAAGGCAGAGATATGATCCTTCATTCCTAAATATTTCAGCATTTATCTCTTGAGAATAATAGGATATTATCTTATATAACCACAACATGATTATTAAATGCCAGAAATTTATCAGTGTTATATTATTATCTAATATAGTTCATATTCAAGTTTACTATTTCCAAATACAAAGATTCTTAATCATATTTGATCACAGGTTTCTAACATTTAAATATTTTGTTACCATTTAATAGTTCAGCATATTTAAAAATTCTAGTGAGAATTAAATATTATATCCAGGTGGTAATTTTGATTGAGTCTACATGACATATTATTAAGAAAACACAGTAAATAGGAGGAGACTCTCTCATCTCTCTCTCCTCACCTTCTTCCAAATGAGGAATTCTATCTAAAATGGAACCCTCACCTTCTAAAATGGAAGGCTTTACGTTGGTTTCTATAATATCCAGTCTGTTATATTTGTATACCTAGAAGGAAAAACACAATAATTTTAGGAAGGAAAACTTCTAGTCACTGGAGAGTTAAGATACTTAGAAAGACATGGATTACTTTCAGAGGTAATCAGAATATTTTCCTGAAAAACAGGCCTCCTACAAGGCAGCCAAGGAAATTCAATTCATTTCAGTAAAAGACAGTAATATTTCAAATTATTATCAAGAATGATAAAAATGATTTTAAAAACACCGCTTTTCCTTAAGCCAGGAACCTGACCTATTTCTACTTATTTCATGAACCTCAGAAGACAAGAGATTCCAACTGACCTGGAATCCCTTGCTTGCTCTCTCTGCTTAGCACCCAACATCCAGAGGATTTACAAGATTCTTACCAGCCTCAAAGCTTCTTCCCAGGCAGCTCCTTCTAACAGCAAGAGCACANNNN | pathogenic | 148,806 |
Classify the chromosome 9 variant at position 108880133 affecting gene ELP1 (elongator acetyltransferase complex subunit 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_dysautonomia', 'Medulloblastoma'] | TAATTCCCTTCCTTGTTCATCAAACTCAAAGAGAAAGAGTACCTTTAAAATATGGTATACTTCATCTAGAGAGAAGAAATTTGAAAGAGTGGTAAGTTATATTCCCAGCTCCATTGACAGAATCATACATAGCTTCTATCCAAAGCCAAAAATTTCTATGATCCCACTGCAGGTCCTTTCTCCCACATTATCTTTTTTCTTCCCAAATGCTGGAATAATTAAACACATGTACTACAAAAAGAAAATCAAGCACGCTGGGGGGCCTACGCAGAAAGCAGTGTCCCACAATTCTTTATCCTGGCCTAAGCATCTCTCCCAGTTCAGTTAGGGGGATGCCAAATGGAGGAAGGCTTCTCAGTTACCAGCTAAGAAGGGCTGCTTCAGGAATGTGTGCAGACATGACCCTTCCTGCTAAAAGTTCTCATCTTTCCTCAAATTGGGAAAATGGTAGCTTAATCACCTACTGAACTCTGCCTGTCTGTACTGCCTATTCACTATTGTTTGTGGTCAGGAATCATCATCAGGACTGAGAATATACCTTTCAGGTTTTCAGTGTTCTGCACCACTTCACTCAGTGCCTCCAGGAGGGCCAGGTCCTCCAGCGGACTGCCTTCTTTGAGGCTGTGCTTCTTCCGCTCCGCTTTTCGGCGATTCTTGGATGATCTCCTGTTAGAAATTACACAGATATTTTTAAGCCTCCTGAGTAGCTAGGACTACAGGCATGTGCTACCTTGCCTGGCTACTTTCTTGCAGTTGCTGATGACCCCACACAACTTCACAGATCTCCATTTTAAATTCCTAAAGCAAAATTCAGTTTGAATATATAATCTTGCATTGCTTTACACATCCCAAGCAAGACTATAAACTCTTATAACTCATATCTCCTTATAAGTTTTTGGTAACATCTACTGCACCTACCATATGAGTGCTGAATAAATATTTCTGACAAATTACTATATTTGGTAAAAGTGTTATGACTTATTTTACATTTATGGTCTCTTCCAATCCTGATTTTGAATTGAAGAAGCTTATCTTTTCATTTTTTCAGTGCCTATAATTTAGTCACAACATTTGTTCAAAAAATAAAATCAGATGTTAATATAAACTGAGCATTCAGGGGAGGAACTGCCTCGTGGGGAATGGGAAAACACACAAGCCACAAGGCTGAGGAAGAAAACCTTCCAATGCCAAGTTTAATGTCTCAGATATGCTGGGAAAGTGTCTGAACAACTTCCACACAGCGCTGAAGAATATTCTCCCCACTCCCACTACACCGTCCCAGTAGAAAACCAATCTATTTGCTTCCACTTTCCCTATATGCCCAGGATATAGTCAATGTGCTGAATCAATGTGATACGTACGCTGATATCCTGGAGTTACTATGGGAGTATTTGCCACTCATCTCACTGCCACTCACGACACTGCTAGTTTCAGAGAAGAGGTCTGACTCTTGCCCGTGGGGTACCTCATCATCTAGAAAAGAAGAACCAGAAGCCGATGAAAACACTGCCTGCTAATGTGTGGGTTTACTTTCAGGGCGGTAAATGAACTAACTAGAGTCAACTGGTGCATATCAAAGGATGGATGAAAATGATTGCAAAGTTGATCTCAAAATGAATGAGATAATATTAAATACAGTAATTACTAATGTAAATCAGTAGTTTCCTGAACTTTTTTCTGGAAATGAGGAAACTCATTTTGTTAGACACGGAAGTGGTCAGCTGCTCTGGGTGAATGGGGGTAGGTGGGAATGTCTGGCAGAGCTCTCCCCATTCATGCTTGGTCCTGCCCTTCACCAACACACAAACACAGACACAGAGGGCCCTGAAGGGGCTCCACAGAAGCCTCACACTTGCCCATGGCACAGTAATCAGATTGCAGGCGGATCACCAAGCAATCTAGACAATGTGTGGCGTTACCCAACCCCACTGCCCCCGCACGTCGATGGCCTTCACGCAGATACTCACCCAGACCTGCCTGCTGGGCTTGCTCCTTGAGCTCTCGAACTACCAATAAACGTTTCTTGTGGCGACTGAATGTGGCTGTCTGAGAGTCCAGAAATGCCATATAATTTTTCTGGGCTGGAGATGCAGAATGGAAAATAGTTTGAGCATGAGGTTTAAGCAAAGAGAAAAAACTAAAGGCGGGGAGCAGTGAAGGAGGGTTAAAATTCAGCAAAAAGAAAGAGGTTACTAGGTTTTCCAAGCGAGCTCTTTTTCCTTAATAAGCATTAACAAATTAGAGACTGAGATTCCAGATCTTAGAGTTCATCAACATTATCCCAGAATATGCGCTACCACTGAACTTGTAAAATCACCTGAACGAAGACTTGATACCTAAAGCAAGGGAGGATTGGCAAAACAAACAAACAAACAAAACAAACAAACAAAAAAAGGGGGGGTAGGGGAGGGGAGCTCAGTTAACAAAAATAAGAAGAAAATTACCTAAATGTTTCTGGCTAAACATCCATCAAAATGCCCATGGATGTGGAAAAAATGTATCTAATAAATATTGTCCAATGGAAAAATACACAAGAGAAAAATAACACTAGTAGAATACATTTTAAAAAAGCAAAATACTACTATCCAAGGATGCATTTTATTAATAGGTTTTGGGCCTATGTAGATGAATTATCGGCATTTATCTAAGAAAGGTTCTCATTAGTGGTGAAAATCTAAGTAAGAGCTGGTTAGATTATTATAGATGAGGAATGATGTTTTCAGTACCCAGTTAGAGGTACCTAAAGTGAATGACATAAAAAGTACCCCAGCAACGTTTTAATTAGGATGGAGGAAGGGGGTGCAGACAAGGTAAGAATGTGCATACATGTAAATGTCAGAAAGGCCAGACGTTACTTACAGGGTAGATGTGCATAAAAATGCAGAACTTAAAATCAACCACTCCCTAAGGTTTCTATAAGTCAAACTGATGTCCTTCTCCACTTTGCTTTTAAGAGGTCACAGTGACCATCTGAGTATTCTAGAACTGGTAATATTCATATGTTCTCTAAGAACCACAAACTTCATTTGAAAAGGTAACTTTTAAAAAATACTTTGAAACGTTGAAACCTACATAAAAGTTGTAAGAGTTCAATGAACACACATATACCCTTTACTTTGATTTACCAATTACTAACATTTTGACATTTTTTTGCTTCCTGTTTCTCTGCATGCATACACACATTCATTAATACTTTTGTGGAACCTTTTAAGAGTAAGGCAGAGATATGATCCTTCATTCCTAAATATTTCAGCATTTATCTCTTGAGAATAATAGGATATTATCTTATATAACCACAACATGATTATTAAATGCCAGAAATTTATCAGTGTTATATTATTATCTAATATAGTTCATATTCAAGTTTACTATTTCCAAATACAAAGATTCTTAATCATATTTGATCACAGGTTTCTAACATTTAAATATTTTGTTACCATTTAATAGTTCAGCATATTTAAAAATTCTAGTGAGAATTAAATATTATATCCAGGTGGTAATTTTGATTGAGTCTACATGACATATTATTAAGAAAACACAGTAAATAGGAGGAGACTCTCTCATCTCTCTCTCCTCACCTTCTTCCAAATGAGGAATTCTATCTAAAATGGAACCCTCACCTTCTAAAATGGAAGGCTTTACGTTGGTTTCTATAATATCCAGTCTGTTATATTTGTATACCTAGAAGGAAAAACACAATAATTTTAGGAAGGAAAACTTCTAGTCACTGGAGAGTTAAGATACTTAGAAAGACATGGATTACTTTCAGAGGTAATCAGAATATTTTCCTGAAAAACAGGCCTCCTACAAGGCAGCCAAGGAAATTCAATTCATTTCAGTAAAAGACAGTAATATTTCAAATTATTATCAAGAATGATAAAAATGATTTTAAAAACACCGCTTTTCCTTAAGCCAGGAACCTGACCTATTTCTACTTATTTCATGAACCTCAGAAGACAAGAGATTCCAACTGACCTGGAATCCCTTGCTTGCTCTCTCTGCTTAGCACCCAACATCCAGAGGATTTACAAGATTCTTACCAGCCTCAAAGCTTCTTCCCAGGCAGCTCCTTCTAACAGCAAGAGCACAGCTTCTT | TAATTCCCTTCCTTGTTCATCAAACTCAAAGAGAAAGAGTACCTTTAAAATATGGTATACTTCATCTAGAGAGAAGAAATTTGAAAGAGTGGTAAGTTATATTCCCAGCTCCATTGACAGAATCATACATAGCTTCTATCCAAAGCCAAAAATTTCTATGATCCCACTGCAGGTCCTTTCTCCCACATTATCTTTTTTCTTCCCAAATGCTGGAATAATTAAACACATGTACTACAAAAAGAAAATCAAGCACGCTGGGGGGCCTACGCAGAAAGCAGTGTCCCACAATTCTTTATCCTGGCCTAAGCATCTCTCCCAGTTCAGTTAGGGGGATGCCAAATGGAGGAAGGCTTCTCAGTTACCAGCTAAGAAGGGCTGCTTCAGGAATGTGTGCAGACATGACCCTTCCTGCTAAAAGTTCTCATCTTTCCTCAAATTGGGAAAATGGTAGCTTAATCACCTACTGAACTCTGCCTGTCTGTACTGCCTATTCACTATTGTTTGTGGTCAGGAATCATCATCAGGACTGAGAATATACCTTTCAGGTTTTCAGTGTTCTGCACCACTTCACTCAGTGCCTCCAGGAGGGCCAGGTCCTCCAGCGGACTGCCTTCTTTGAGGCTGTGCTTCTTCCGCTCCGCTTTTCGGCGATTCTTGGATGATCTCCTGTTAGAAATTACACAGATATTTTTAAGCCTCCTGAGTAGCTAGGACTACAGGCATGTGCTACCTTGCCTGGCTACTTTCTTGCAGTTGCTGATGACCCCACACAACTTCACAGATCTCCATTTTAAATTCCTAAAGCAAAATTCAGTTTGAATATATAATCTTGCATTGCTTTACACATCCCAAGCAAGACTATAAACTCTTATAACTCATATCTCCTTATAAGTTTTTGGTAACATCTACTGCACCTACCATATGAGTGCTGAATAAATATTTCTGACAAATTACTATATTTGGTAAAAGTGTTATGACTTATTTTACATTTATGGTCTCTTCCAATCCTGATTTTGAATTGAAGAAGCTTATCTTTTCATTTTTTCAGTGCCTATAATTTAGTCACAACATTTGTTCAAAAAATAAAATCAGATGTTAATATAAACTGAGCATTCAGGGGAGGAACTGCCTCGTGGGGAATGGGAAAACACACAAGCCACAAGGCTGAGGAAGAAAACCTTCCAATGCCAAGTTTAATGTCTCAGATATGCTGGGAAAGTGTCTGAACAACTTCCACACAGCGCTGAAGAATATTCTCCCCACTCCCACTACACCGTCCCAGTAGAAAACCAATCTATTTGCTTCCACTTTCCCTATATGCCCAGGATATAGTCAATGTGCTGAATCAATGTGATACGTACGCTGATATCCTGGAGTTACTATGGGAGTATTTGCCACTCATCTCACTGCCACTCACGACACTGCTAGTTTCAGAGAAGAGGTCTGACTCTTGCCCGTGGGGTACCTCATCATCTAGAAAAGAAGAACCAGAAGCCGATGAAAACACTGCCTGCTAATGTGTGGGTTTACTTTCAGGGCGGTAAATGAACTAACTAGAGTCAACTGGTGCATATCAAAGGATGGATGAAAATGATTGCAAAGTTGATCTCAAAATGAATGAGATAATATTAAATACAGTAATTACTAATGTAAATCAGTAGTTTCCTGAACTTTTTTCTGGAAATGAGGAAACTCATTTTGTTAGACACGGAAGTGGTCAGCTGCTCTGGGTGAATGGGGGTAGGTGGGAATGTCTGGCAGAGCTCTCCCCATTCATGCTTGGTCCTGCCCTTCACCAACACACAAACACAGACACAGAGGGCCCTGAAGGGGCTCCACAGAAGCCTCACACTTGCCCATGGCACAGTAATCAGATTGCAGGCGGATCACCAAGCAATCTAGACAATGTGTGGCGTTACCCAACCCCACTGCCCCCGCACGTCGATGGCCTTCACGCAGATACTCACCCAGACCTGCCTGCTGGGCTTGCTCCTTGAGCTCTCGAACTACCAATAAACGTTTCTTGTGGCGACTGAATGTGGCTGTCTGAAGAGTCCAGAAATGCCATATAATTTTTCTGGGCTGGAGATGCAGAATGGAAAATAGTTTGAGCATGAGGTTTAAGCAAAGAGAAAAAACTAAAGGCGGGGAGCAGTGAAGGAGGGTTAAAATTCAGCAAAAAGAAAGAGGTTACTAGGTTTTCCAAGCGAGCTCTTTTTCCTTAATAAGCATTAACAAATTAGAGACTGAGATTCCAGATCTTAGAGTTCATCAACATTATCCCAGAATATGCGCTACCACTGAACTTGTAAAATCACCTGAACGAAGACTTGATACCTAAAGCAAGGGAGGATTGGCAAAACAAACAAACAAACAAAACAAACAAACAAAAAAAGGGGGGGTAGGGGAGGGGAGCTCAGTTAACAAAAATAAGAAGAAAATTACCTAAATGTTTCTGGCTAAACATCCATCAAAATGCCCATGGATGTGGAAAAAATGTATCTAATAAATATTGTCCAATGGAAAAATACACAAGAGAAAAATAACACTAGTAGAATACATTTTAAAAAAGCAAAATACTACTATCCAAGGATGCATTTTATTAATAGGTTTTGGGCCTATGTAGATGAATTATCGGCATTTATCTAAGAAAGGTTCTCATTAGTGGTGAAAATCTAAGTAAGAGCTGGTTAGATTATTATAGATGAGGAATGATGTTTTCAGTACCCAGTTAGAGGTACCTAAAGTGAATGACATAAAAAGTACCCCAGCAACGTTTTAATTAGGATGGAGGAAGGGGGTGCAGACAAGGTAAGAATGTGCATACATGTAAATGTCAGAAAGGCCAGACGTTACTTACAGGGTAGATGTGCATAAAAATGCAGAACTTAAAATCAACCACTCCCTAAGGTTTCTATAAGTCAAACTGATGTCCTTCTCCACTTTGCTTTTAAGAGGTCACAGTGACCATCTGAGTATTCTAGAACTGGTAATATTCATATGTTCTCTAAGAACCACAAACTTCATTTGAAAAGGTAACTTTTAAAAAATACTTTGAAACGTTGAAACCTACATAAAAGTTGTAAGAGTTCAATGAACACACATATACCCTTTACTTTGATTTACCAATTACTAACATTTTGACATTTTTTTGCTTCCTGTTTCTCTGCATGCATACACACATTCATTAATACTTTTGTGGAACCTTTTAAGAGTAAGGCAGAGATATGATCCTTCATTCCTAAATATTTCAGCATTTATCTCTTGAGAATAATAGGATATTATCTTATATAACCACAACATGATTATTAAATGCCAGAAATTTATCAGTGTTATATTATTATCTAATATAGTTCATATTCAAGTTTACTATTTCCAAATACAAAGATTCTTAATCATATTTGATCACAGGTTTCTAACATTTAAATATTTTGTTACCATTTAATAGTTCAGCATATTTAAAAATTCTAGTGAGAATTAAATATTATATCCAGGTGGTAATTTTGATTGAGTCTACATGACATATTATTAAGAAAACACAGTAAATAGGAGGAGACTCTCTCATCTCTCTCTCCTCACCTTCTTCCAAATGAGGAATTCTATCTAAAATGGAACCCTCACCTTCTAAAATGGAAGGCTTTACGTTGGTTTCTATAATATCCAGTCTGTTATATTTGTATACCTAGAAGGAAAAACACAATAATTTTAGGAAGGAAAACTTCTAGTCACTGGAGAGTTAAGATACTTAGAAAGACATGGATTACTTTCAGAGGTAATCAGAATATTTTCCTGAAAAACAGGCCTCCTACAAGGCAGCCAAGGAAATTCAATTCATTTCAGTAAAAGACAGTAATATTTCAAATTATTATCAAGAATGATAAAAATGATTTTAAAAACACCGCTTTTCCTTAAGCCAGGAACCTGACCTATTTCTACTTATTTCATGAACCTCAGAAGACAAGAGATTCCAACTGACCTGGAATCCCTTGCTTGCTCTCTCTGCTTAGCACCCAACATCCAGAGGATTTACAAGATTCTTACCAGCCTCAAAGCTTCTTCCCAGGCAGCTCCTTCTAACAGCAAGAGCACAGCTTCT | pathogenic | 148,807 |
Evaluate the clinical significance of the mutation at chromosome 9, position 108894023 in gene ELP1 (elongator acetyltransferase complex subunit 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_dysautonomia', 'Medulloblastoma'] | GTGGAAGAGAACAGAAAACAAGGGCAAAGAGGTAGCCACTGGCCAAATCCTCGATTCTCCAGGCTGGATGTTAGCCAGAGATTCAGAGAGGAATACAACATGGAGTCCCTGCCCTTAAGGAGCCCACAGCCTGGTGGAGGCGACAAACCAGCTAATCAGCAGTTTGACAAATGCAATCACCAAGGCGAGGGCAGGCTGCTCTGGGGGCTCAGTGTTTGGCGCCTGGTCCAGGAATGGCATTCAGGAGTAACCCAAGGGTTCTGATGGACAAATGGGGCTAAAGGAAGGCTGGTGGGTAGAGAAATGACAGAGGAATCACACGATGTGACATCTGTAGAACTACCTACAAGTAACTGGGAATGTGGACAGTGGCAGAAGCTGGTGCTAAAGAAGCTGGCAGGGGCTTGATCAAAGAAAGATGTGTATATTGTCTGAGGACAAACTGAAAATGGTGATGCTGGTGGCATGGTAGAGTGGTGGTTAATGGCATGGGCAGGGTGGTCAGGCAGCCTGGGCTCTGTATCCCAGGTCCAGCACTTTGTAGCTCTGGATCCTCAGGCAAGTTGCTTCCTCATCTACAAATTGTGTACAGCACCCTATGAGGCTGTTAAGAGGATCATATAACACATTTAACTTAGAAGCAAAGTGTGTGGTATATAAAAAAAGCTAAAGGGATGCTTTTTCAAGCAAACAAAAATTTCCCTTTATGCTGAAATATATGGGAAAGATCTGTACTTGTTAGGATAATCAGACTTACAGCAGTAAGGTTGGGCTAGAGGAGGGGTGGGAAAGAAGCAGGGAACCCCACGAGGAAGGTGCTGTGGTATTCCAGATGAGGAATCAGAGAACAGGTCAGGACCATTCTCCCAGATAAGAAGTTCAAATTGAGGCTAATTAGTTTTAAGATAAATTTTGAAGCCAAGGATGGTGTTATGAACTTAGGATCCTCACTCCTTTCCTACTAAAGCAAAAAGCAAAACCAGGAGAGCCTCATTTTCACATACCACATACCTGGTACTGTTGTGAGCTTGGTGAATATAACTTCAGAGCTTCGTTATACAAGTTTTTATCTTTTATCAAGTTTAAGCATTCTGGGAAGTACTCAGGTCCTGCAGGAAAAAGATTCACACAAAGACAGGCTTAAGACATGGGAAGCATAATGGACTTCATTTATACCAATGGTCACCAAACAAAATAAATGAGGAACTTTTTAAGACCTAAATAATCAGAGAATCTGAAGAATGGGATCCTGGAATTTGAATTTTTAATGAGCACCACTGCAGATTCTGAGGCAAGAGCAGCACTGATTGGGATCAGCATCCTACTTAAGAGTCCCAGCTTTCCAGCCCAGTGTTTTCTCAGCCTCCTTGAAAAGACATCACCTGGGAAGCTTATTAGACACATGCACGCCTCAGTCCTATCCCAGACCACCTGAATCAGATTCTCCAAGGATGCCAGCAGCTGAAGGCTTAACATGCACCCCAGGTGATTCTTCCTTTCCCCCATCAGTCCTCAGTAAAGAATCACAACTGTTCCAGCATGGGAAGAACAACTGGCACCCCATCACTGTCAATTAAAACTGCGTCTTGCAGGGCACGGGGAGGTGGCCTCATCACTCTCTCCAGACAAGCAGAGTTTCCCTGACATGTCTGCAAACAGCATGAGAAGGAAGAACTGACAACCAATTTTGATTCTGAGACACTGAAGTTAACTTCACAGGTGCTCATTCTTAACCAAAAAAGGATCTACTTGACGTTCTTACCTAGGGAGCTCCTCCAGTTCATTAAAAGTGATTACCTTCAGCTTTTCAGAACACAGGACAAAATAACGTGAGCATACATAATTGTTAGAGTTTTCAGGAGTGGGAAGTGAAATCAGTCACTGTCTAAACTAACAGTTTAATTTATACCTTGCCTAGTTCCAAAGAAGATCTGAAGTAGAGATAAACATACTAATCCCCACACTTACCACATTTGCTGAGGTGGCCAATGGCTTTTTCATATCGTTTCAAGTATTTGTCTATAGTAAACCGCTGATAATTAGTTTCCATTTTCTTAAGTGTATTAAGAAATGGAAGATATTCTTTGGGATCCTAAAAAAATGATTAATGAGAACTTTATTACTTGTGATATTCATATATAGGAATAGAAACTAGCATTTACATATAGCAATAAACCCAAAGCTACATAATTTTTAAATGTGTATTATATATTAACTGCATATTATATAATATATAAAATCAAACTACAGTTGTCCCCCAGTATCTATGGGGAATTGGTTCCAGGACACCCCAAGGATACCAAAATCCAAGCATACCCCAGTCCTACATTTGACCCCATGGAGCCTGGATACACAAAATGTTGGCCCTCTGTATCTGCAAGTTTCAAATCCTGCAAATATTGTACTTTTGATCCACACTGATTGTGGATGCAGAAGCCGTGGACACAAAGGGCCAACTGTGTTTGAGAGAGATCCACATTTAGATAAACCCACACAGTTCAAACTCGCACAGTTGAAACTCACGTTGTGCAAGGGTCAGCTGAACATCAAACAAGCTTTGGCAAAAATGCTTTCACATACGGATATTAATAAGTTACACTTGGAATAATAGTAACTTCCTTAACTAAGTCTCACAGTATCATTTATTTCATAGGCTAATAAGGGAAATAAGGTTTCAGTCTAGAAGATATTCAACAAATGCATCTAAGTTTCTCCTAAAAGTCTAAGACATTGCTCTTGGTGCTGTTTTCATGACATTCCATGCTCTCCTGAAATGATCACATTAAAACAAACATAAAATTATACTGAGTTGGACACAAAACTCTGAGACCCTGCCAACCTAGTATTTATTGGCACTATCATCTCCAGCTCTATGCCATGCCCTGTAAGCAAATTGTTTTTCTTCCTAATGGAGAGGTGTTTCCTGTTTTTAATGCAATTTCCCTGGGCTGACAGGATAAATACATGTAAGAACAACATAGGAAGAAAACCCAAGACAACAAATAATTAAGTGCTCATTCCCAGCACTCTGGGAGGCCGAGGCAGATGGATTGCTTCAGCTCACAAGTTTGAGACCAGCCTGGGCAACATGGCGAAACCCCGTCTCAACAAAAAAAATTCAAAACTTAGCCGGGCATGGTGGTGCACGCCTGTAAGCTGAGGTGAGATTGCTTGAGCCTAGGAGGCGTAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCCGGGTGATAGAGCCCGACCTTGTCTCAAAAATAAATAAATAAATACCGCACTCTAGATAAAGACACACTGTAGTCTGCAGGGGTAGGCACTGTGTGCAACAGAAGCATATAGGAGGGTCACCTCACCCAGTCCCTGGAGGGAAGCATGAATGGCTTACTGGGAAGAGGCCACCTTGGCATCCTTTAACCTAGATTAGTGAGAATTAGCCAGGGGAATGGTGAGGGTGGAAGCAGTCAAAGCCCATGGATGGCAGAAGTAATGCTGCCCACCAAGGCATGTGGTGGTGAGGGGCAAGGGAAGGGGGACAAAAGCATTGTCTTTCCTCCATGGGCAGAGGAAAAAAAGACAATACCAAGAAGTGAGAATGGAAAGATACACAGAGGCCAGGTCAAGGAAGGGTTTTTAAGCAGTATTATGGCTTCTGAATTATATCCTCGGAACAATGGGAGCTCATGAAGTATTTTAAGCAGAGAGATGAAGGATCCGATTTTCATTTTTGGAGAGGTCATGGGGAAGAGACTGAGGCTGCAAAAAAATAAATAAAAAATATGCATACCAGTGGTGTTCAAAGTTTTTGATCATAGCAAATGTACCAACATAGGAAAGGAGGCCATGAGCCTTCTGTGCTCCATGTGCCCACCCTCCACTAGAAAAAAGAGCCATGTGAGAAAGAACCGGAGTGGAACATGAACCACTTGTTACATTTCCTTTATAAGAGAAGAAATTAGCTCACACATATGCCCATCATCTTAAAAATAACCATGTAATTTTAGGCCGCACATGGTGGCCCACACCTGTAATTCCAGCACTTTGGGAGACTGAGGTAGGCGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAA | GTGGAAGAGAACAGAAAACAAGGGCAAAGAGGTAGCCACTGGCCAAATCCTCGATTCTCCAGGCTGGATGTTAGCCAGAGATTCAGAGAGGAATACAACATGGAGTCCCTGCCCTTAAGGAGCCCACAGCCTGGTGGAGGCGACAAACCAGCTAATCAGCAGTTTGACAAATGCAATCACCAAGGCGAGGGCAGGCTGCTCTGGGGGCTCAGTGTTTGGCGCCTGGTCCAGGAATGGCATTCAGGAGTAACCCAAGGGTTCTGATGGACAAATGGGGCTAAAGGAAGGCTGGTGGGTAGAGAAATGACAGAGGAATCACACGATGTGACATCTGTAGAACTACCTACAAGTAACTGGGAATGTGGACAGTGGCAGAAGCTGGTGCTAAAGAAGCTGGCAGGGGCTTGATCAAAGAAAGATGTGTATATTGTCTGAGGACAAACTGAAAATGGTGATGCTGGTGGCATGGTAGAGTGGTGGTTAATGGCATGGGCAGGGTGGTCAGGCAGCCTGGGCTCTGTATCCCAGGTCCAGCACTTTGTAGCTCTGGATCCTCAGGCAAGTTGCTTCCTCATCTACAAATTGTGTACAGCACCCTATGAGGCTGTTAAGAGGATCATATAACACATTTAACTTAGAAGCAAAGTGTGTGGTATATAAAAAAAGCTAAAGGGATGCTTTTTCAAGCAAACAAAAATTTCCCTTTATGCTGAAATATATGGGAAAGATCTGTACTTGTTAGGATAATCAGACTTACAGCAGTAAGGTTGGGCTAGAGGAGGGGTGGGAAAGAAGCAGGGAACCCCACGAGGAAGGTGCTGTGGTATTCCAGATGAGGAATCAGAGAACAGGTCAGGACCATTCTCCCAGATAAGAAGTTCAAATTGAGGCTAATTAGTTTTAAGATAAATTTTGAAGCCAAGGATGGTGTTATGAACTTAGGATCCTCACTCCTTTCCTACTAAAGCAAAAAGCAAAACCAGGAGAGCCTCATTTTCACATACCACATACCTGGTACTGTTGTGAGCTTGGTGAATATAACTTCAGAGCTTCGTTATACAAGTTTTTATCTTTTATCAAGTTTAAGCATTCTGGGAAGTACTCAGGTCCTGCAGGAAAAAGATTCACACAAAGACAGGCTTAAGACATGGGAAGCATAATGGACTTCATTTATACCAATGGTCACCAAACAAAATAAATGAGGAACTTTTTAAGACCTAAATAATCAGAGAATCTGAAGAATGGGATCCTGGAATTTGAATTTTTAATGAGCACCACTGCAGATTCTGAGGCAAGAGCAGCACTGATTGGGATCAGCATCCTACTTAAGAGTCCCAGCTTTCCAGCCCAGTGTTTTCTCAGCCTCCTTGAAAAGACATCACCTGGGAAGCTTATTAGACACATGCACGCCTCAGTCCTATCCCAGACCACCTGAATCAGATTCTCCAAGGATGCCAGCAGCTGAAGGCTTAACATGCACCCCAGGTGATTCTTCCTTTCCCCCATCAGTCCTCAGTAAAGAATCACAACTGTTCCAGCATGGGAAGAACAACTGGCACCCCATCACTGTCAATTAAAACTGCGTCTTGCAGGGCACGGGGAGGTGGCCTCATCACTCTCTCCAGACAAGCAGAGTTTCCCTGACATGTCTGCAAACAGCATGAGAAGGAAGAACTGACAACCAATTTTGATTCTGAGACACTGAAGTTAACTTCACAGGTGCTCATTCTTAACCAAAAAAGGATCTACTTGACGTTCTTACCTAGGGAGCTCCTCCAGTTCATTAAAAGTGATTACCTTCAGCTTTTCAGAACACAGGACAAAATAACGTGAGCATACATAATTGTTAGAGTTTTCAGGAGTGGGAAGTGAAATCAGTCACTGTCTAAACTAACAGTTTAATTTATACCTTGCCTAGTTCCAAAGAAGATCTGAAGTAGAGATAAACATACTAATCCCCACACTTACCACATTTGCTGAGGTGGCCAATGGCTTTTTCATATCGTTTCAAGTATTTGTCTATAGTAAACCGCTGATAATTAGTTTCCATTTCTTAAGTGTATTAAGAAATGGAAGATATTCTTTGGGATCCTAAAAAAATGATTAATGAGAACTTTATTACTTGTGATATTCATATATAGGAATAGAAACTAGCATTTACATATAGCAATAAACCCAAAGCTACATAATTTTTAAATGTGTATTATATATTAACTGCATATTATATAATATATAAAATCAAACTACAGTTGTCCCCCAGTATCTATGGGGAATTGGTTCCAGGACACCCCAAGGATACCAAAATCCAAGCATACCCCAGTCCTACATTTGACCCCATGGAGCCTGGATACACAAAATGTTGGCCCTCTGTATCTGCAAGTTTCAAATCCTGCAAATATTGTACTTTTGATCCACACTGATTGTGGATGCAGAAGCCGTGGACACAAAGGGCCAACTGTGTTTGAGAGAGATCCACATTTAGATAAACCCACACAGTTCAAACTCGCACAGTTGAAACTCACGTTGTGCAAGGGTCAGCTGAACATCAAACAAGCTTTGGCAAAAATGCTTTCACATACGGATATTAATAAGTTACACTTGGAATAATAGTAACTTCCTTAACTAAGTCTCACAGTATCATTTATTTCATAGGCTAATAAGGGAAATAAGGTTTCAGTCTAGAAGATATTCAACAAATGCATCTAAGTTTCTCCTAAAAGTCTAAGACATTGCTCTTGGTGCTGTTTTCATGACATTCCATGCTCTCCTGAAATGATCACATTAAAACAAACATAAAATTATACTGAGTTGGACACAAAACTCTGAGACCCTGCCAACCTAGTATTTATTGGCACTATCATCTCCAGCTCTATGCCATGCCCTGTAAGCAAATTGTTTTTCTTCCTAATGGAGAGGTGTTTCCTGTTTTTAATGCAATTTCCCTGGGCTGACAGGATAAATACATGTAAGAACAACATAGGAAGAAAACCCAAGACAACAAATAATTAAGTGCTCATTCCCAGCACTCTGGGAGGCCGAGGCAGATGGATTGCTTCAGCTCACAAGTTTGAGACCAGCCTGGGCAACATGGCGAAACCCCGTCTCAACAAAAAAAATTCAAAACTTAGCCGGGCATGGTGGTGCACGCCTGTAAGCTGAGGTGAGATTGCTTGAGCCTAGGAGGCGTAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCCGGGTGATAGAGCCCGACCTTGTCTCAAAAATAAATAAATAAATACCGCACTCTAGATAAAGACACACTGTAGTCTGCAGGGGTAGGCACTGTGTGCAACAGAAGCATATAGGAGGGTCACCTCACCCAGTCCCTGGAGGGAAGCATGAATGGCTTACTGGGAAGAGGCCACCTTGGCATCCTTTAACCTAGATTAGTGAGAATTAGCCAGGGGAATGGTGAGGGTGGAAGCAGTCAAAGCCCATGGATGGCAGAAGTAATGCTGCCCACCAAGGCATGTGGTGGTGAGGGGCAAGGGAAGGGGGACAAAAGCATTGTCTTTCCTCCATGGGCAGAGGAAAAAAAGACAATACCAAGAAGTGAGAATGGAAAGATACACAGAGGCCAGGTCAAGGAAGGGTTTTTAAGCAGTATTATGGCTTCTGAATTATATCCTCGGAACAATGGGAGCTCATGAAGTATTTTAAGCAGAGAGATGAAGGATCCGATTTTCATTTTTGGAGAGGTCATGGGGAAGAGACTGAGGCTGCAAAAAAATAAATAAAAAATATGCATACCAGTGGTGTTCAAAGTTTTTGATCATAGCAAATGTACCAACATAGGAAAGGAGGCCATGAGCCTTCTGTGCTCCATGTGCCCACCCTCCACTAGAAAAAAGAGCCATGTGAGAAAGAACCGGAGTGGAACATGAACCACTTGTTACATTTCCTTTATAAGAGAAGAAATTAGCTCACACATATGCCCATCATCTTAAAAATAACCATGTAATTTTAGGCCGCACATGGTGGCCCACACCTGTAATTCCAGCACTTTGGGAGACTGAGGTAGGCGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAAN | pathogenic | 148,842 |
Evaluate if the mutation on chromosome 9 at position 108896654 in ELP1 (elongator acetyltransferase complex subunit 1) is benign or pathogenic. Disease name(s) if pathogenic? | benign | CACAGTATCATTTATTTCATAGGCTAATAAGGGAAATAAGGTTTCAGTCTAGAAGATATTCAACAAATGCATCTAAGTTTCTCCTAAAAGTCTAAGACATTGCTCTTGGTGCTGTTTTCATGACATTCCATGCTCTCCTGAAATGATCACATTAAAACAAACATAAAATTATACTGAGTTGGACACAAAACTCTGAGACCCTGCCAACCTAGTATTTATTGGCACTATCATCTCCAGCTCTATGCCATGCCCTGTAAGCAAATTGTTTTTCTTCCTAATGGAGAGGTGTTTCCTGTTTTTAATGCAATTTCCCTGGGCTGACAGGATAAATACATGTAAGAACAACATAGGAAGAAAACCCAAGACAACAAATAATTAAGTGCTCATTCCCAGCACTCTGGGAGGCCGAGGCAGATGGATTGCTTCAGCTCACAAGTTTGAGACCAGCCTGGGCAACATGGCGAAACCCCGTCTCAACAAAAAAAATTCAAAACTTAGCCGGGCATGGTGGTGCACGCCTGTAAGCTGAGGTGAGATTGCTTGAGCCTAGGAGGCGTAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCCGGGTGATAGAGCCCGACCTTGTCTCAAAAATAAATAAATAAATACCGCACTCTAGATAAAGACACACTGTAGTCTGCAGGGGTAGGCACTGTGTGCAACAGAAGCATATAGGAGGGTCACCTCACCCAGTCCCTGGAGGGAAGCATGAATGGCTTACTGGGAAGAGGCCACCTTGGCATCCTTTAACCTAGATTAGTGAGAATTAGCCAGGGGAATGGTGAGGGTGGAAGCAGTCAAAGCCCATGGATGGCAGAAGTAATGCTGCCCACCAAGGCATGTGGTGGTGAGGGGCAAGGGAAGGGGGACAAAAGCATTGTCTTTCCTCCATGGGCAGAGGAAAAAAAGACAATACCAAGAAGTGAGAATGGAAAGATACACAGAGGCCAGGTCAAGGAAGGGTTTTTAAGCAGTATTATGGCTTCTGAATTATATCCTCGGAACAATGGGAGCTCATGAAGTATTTTAAGCAGAGAGATGAAGGATCCGATTTTCATTTTTGGAGAGGTCATGGGGAAGAGACTGAGGCTGCAAAAAAATAAATAAAAAATATGCATACCAGTGGTGTTCAAAGTTTTTGATCATAGCAAATGTACCAACATAGGAAAGGAGGCCATGAGCCTTCTGTGCTCCATGTGCCCACCCTCCACTAGAAAAAAGAGCCATGTGAGAAAGAACCGGAGTGGAACATGAACCACTTGTTACATTTCCTTTATAAGAGAAGAAATTAGCTCACACATATGCCCATCATCTTAAAAATAACCATGTAATTTTAGGCCGCACATGGTGGCCCACACCTGTAATTCCAGCACTTTGGGAGACTGAGGTAGGCGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGATGGGCACCTGTAGTCCCAGCTACTAGAGAGGCTGAGGCAGGAGAATGGCGTGAACACGGGAGGTGGAACTTGCAGTAAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACTGAGTGAGACTCCGTCTCAAAAAAAAAGAAACAAAAAAAAGCCATGCAATTTTACTTCACTTCTTCAACCTCACAATCAAAACACTTTCATAAGCACAGGGGCTTAGGAATGTGGGCCCTAGAAACTCACAGATCTGTCTCCAGCCCTGCACTCACAGAGTGATAGCAGAAAAGCTACTGCACTACCAGAAGCAGGGTTTCACACTATCATTATATAAACAAGAACCAAATGGCATAAAAGTAAGAACTCCACATACCTTCTGTGACTTCTCAGCTACCATGAGGACCAAATCAAAGTCATAGGTGCCAAGAGAATGATCATATAATTCATTAACATCTACCAGATGCAGCAAATATTTCAAGGCCTCTTCAGCACTCACAGCATCAGGATCAGAGGGAGCATTTCCTAACAGTGTTTAGAAAACAAAACAGAACACAATCATTTGGGGAAAAAATCCACAGACCTAACAACATAACCAAAAAGACAATAAATTTTTCTCAATAGAACTGGACATCAGAAGAATATATACTTCTGATACTTTTATATATGCTTTAGAGGGCAGCACTGAAAAAAACTGACAAGGGTCTTAAAATGGCAACTAAAAAGTCACATGTTAAATCTGTGGTGTGGCAATGACATGGTGATTGTCACCTGCAGAAGACTAGTAGCAGTCACGGCCACCTTAAGCACTTTCTCTGTGAGCGGATCTCTACCTTGAAGCTCGTGTACTTTTTGCAGTACAATTTCCAGTTCTGGGGTTGTCTTCTTTACATGAGATGTAAGTATGGATAGGCAGTATCTGAGGTAATAAGTGAAGAACACCAGAATGAGAAAGGTAAGTAGGCTGGACAAGGACAACTACACACTTCGGTTTTTCAAAGGATGCCACCTGGTGACAGCATACATACTTATGAGGATTTATGCTCTCCATGACTGCTCTCATAGCATCGCAGACAAGGTCTATTTTATTCCCGTCAGGATCCCTGGACAGGTAGACACTGCTGGTAACTGGTGCAGGGTACATGGTCTTCGTGACATCTTCTTCTCTAAGAACAGGTGTGTATGGAATGGTCATCAACAGAACATGTAGCCCAGCGATCAAATTACTAACATACACCTGGCATGCTGATGATGATAAATAAAAATGACTTTTGGAAAAGAGTTGAATTATAAAAATATTGAGAAATAAAACATGTCCACAAAAGACTTATACAAATGTTTGTAGATGTTTTAGTCACATTAGCCCCAAACAGGGTAGTACAATCCACATGTCCAGCAACAGGGGAATGAATAAGCAAATAGTGGTGTATTTACACAACGGCATACTACTGACCAATAAAAAAAGAATGAACTAGTGATACATATAAAAACACAGATGAATCTCAAGACAATATGCTGAATGAAAACAGCTTTATGCAGAAGAGTAATACTGTATGCTTCCATTTAGGTGAAGTTCTTGAACAGGCAAAACTGATTTATGGTAAAAAATTCAGAAGAGTAGTTGCCTGGGGAATGGGACAGGGACTGATTGAAAGGAATCTGAAGCAGCTTTCTGAAAAGGAGTAAATGCCCTCTAACTTGACAGAGGTTCAGGTTACATGAAGTGTACATTTGCCAAAACTCACTAAGTGGCACACTTAAGATTTGGACATTTCACTGTAGATAAATATGACCTGAAAAAACACAACAAAACCAACCCATACACAAAGAATGCCCTCTAGTTAATGATATACAAGGAGAAGTACAGGTGGTAGAGTGGACTGATGTCTACAACTCACTTAGCAATTTGTCTACAAACAAGATGAATGATGGATGGACAGATTATAGAGAATGAGAATGTGTATACAGAAAAATATAAACTGGCGAATCCAGGTGGGGTATATATAGGTTGCTTACTGGACAATTCTCTCAACTTTTCTCTATTTTGAAAGTGTTTCATTAAAAAGTTGAGGGGAAAGATCATCAGAGAGAAAGATGCCATTTGATTTCAGTCTCCTAGGAAAAACAAGTAGTTTTATATGTATACCTAAAAATCAAGTGAAATAATAATTCTGAATGACATGTTTTAAGGACATAGTTTTAAACAGGCTGTTTTAAAAAGAACGGAAAAGAGCAAAAAACCAACTGGCATCTAAGAGTTATAGCAATTTTTAAAAATGAACAGTAAGGAATTTTTCTTCTCTAGCTATTTATGCTTGATTTCCTTAACAAGAAGAGAGAAAACTATGGAAAAGATACACATGAATTATTCAAAATACTTACTTCAATTCTGTAAAAAACAAGTTAATATGATTCACAGAATCTATCTGTTTAATGAAGGTTTCCACATTTCCAAGAAACACCTACCAAAAAAAGGACAAAACATCTTCGTTCAGATCATATTAGTTTAAGTACAAAGTAAGCTAGAGTAAATGACAGCTTAGAAAGTTACCTTAGGGTTATGATCATAAATCAGATTGAGA | CACAGTATCATTTATTTCATAGGCTAATAAGGGAAATAAGGTTTCAGTCTAGAAGATATTCAACAAATGCATCTAAGTTTCTCCTAAAAGTCTAAGACATTGCTCTTGGTGCTGTTTTCATGACATTCCATGCTCTCCTGAAATGATCACATTAAAACAAACATAAAATTATACTGAGTTGGACACAAAACTCTGAGACCCTGCCAACCTAGTATTTATTGGCACTATCATCTCCAGCTCTATGCCATGCCCTGTAAGCAAATTGTTTTTCTTCCTAATGGAGAGGTGTTTCCTGTTTTTAATGCAATTTCCCTGGGCTGACAGGATAAATACATGTAAGAACAACATAGGAAGAAAACCCAAGACAACAAATAATTAAGTGCTCATTCCCAGCACTCTGGGAGGCCGAGGCAGATGGATTGCTTCAGCTCACAAGTTTGAGACCAGCCTGGGCAACATGGCGAAACCCCGTCTCAACAAAAAAAATTCAAAACTTAGCCGGGCATGGTGGTGCACGCCTGTAAGCTGAGGTGAGATTGCTTGAGCCTAGGAGGCGTAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCCGGGTGATAGAGCCCGACCTTGTCTCAAAAATAAATAAATAAATACCGCACTCTAGATAAAGACACACTGTAGTCTGCAGGGGTAGGCACTGTGTGCAACAGAAGCATATAGGAGGGTCACCTCACCCAGTCCCTGGAGGGAAGCATGAATGGCTTACTGGGAAGAGGCCACCTTGGCATCCTTTAACCTAGATTAGTGAGAATTAGCCAGGGGAATGGTGAGGGTGGAAGCAGTCAAAGCCCATGGATGGCAGAAGTAATGCTGCCCACCAAGGCATGTGGTGGTGAGGGGCAAGGGAAGGGGGACAAAAGCATTGTCTTTCCTCCATGGGCAGAGGAAAAAAAGACAATACCAAGAAGTGAGAATGGAAAGATACACAGAGGCCAGGTCAAGGAAGGGTTTTTAAGCAGTATTATGGCTTCTGAATTATATCCTCGGAACAATGGGAGCTCATGAAGTATTTTAAGCAGAGAGATGAAGGATCCGATTTTCATTTTTGGAGAGGTCATGGGGAAGAGACTGAGGCTGCAAAAAAATAAATAAAAAATATGCATACCAGTGGTGTTCAAAGTTTTTGATCATAGCAAATGTACCAACATAGGAAAGGAGGCCATGAGCCTTCTGTGCTCCATGTGCCCACCCTCCACTAGAAAAAAGAGCCATGTGAGAAAGAACCGGAGTGGAACATGAACCACTTGTTACATTTCCTTTATAAGAGAAGAAATTAGCTCACACATATGCCCATCATCTTAAAAATAACCATGTAATTTTAGGCCGCACATGGTGGCCCACACCTGTAATTCCAGCACTTTGGGAGACTGAGGTAGGCGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGATGGGCACCTGTAGTCCCAGCTACTAGAGAGGCTGAGGCAGGAGAATGGCGTGAACACGGGAGGTGGAACTTGCAGTAAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACTGAGTGAGACTCCGTCTCAAAAAAAAAGAAACAAAAAAAAGCCATGCAATTTTACTTCACTTCTTCAACCTCACAATCAAAACACTTTCATAAGCACAGGGGCTTAGGAATGTGGGCCCTAGAAACTCACAGATCTGTCTCCAGCCCTGCACTCACAGAGTGATAGCAGAAAAGCTACTGCACTACCAGAAGCAGGGTTTCACACTATCATTATATAAACAAGAACCAAATGGCATAAAAGTAAGAACTCCACATACCTTCTGTGACTTCTCAGCTACCATGAGGACCAAATCAAAGTCATAGGTGCCAAGAGAATGATCATATAATTCATTAACATCTACCAGATGCAGCAAATATTTCAAGGCCTCTTCAGCACTCACAGCATCAGGATCAGAGGGAGCATTTCCTAACAGTGTTGTTAGAAAACAAAACAGAACACAATCATTTGGGGAAAAAATCCACAGACCTAACAACATAACCAAAAAGACAATAAATTTTTCTCAATAGAACTGGACATCAGAAGAATATATACTTCTGATACTTTTATATATGCTTTAGAGGGCAGCACTGAAAAAAACTGACAAGGGTCTTAAAATGGCAACTAAAAAGTCACATGTTAAATCTGTGGTGTGGCAATGACATGGTGATTGTCACCTGCAGAAGACTAGTAGCAGTCACGGCCACCTTAAGCACTTTCTCTGTGAGCGGATCTCTACCTTGAAGCTCGTGTACTTTTTGCAGTACAATTTCCAGTTCTGGGGTTGTCTTCTTTACATGAGATGTAAGTATGGATAGGCAGTATCTGAGGTAATAAGTGAAGAACACCAGAATGAGAAAGGTAAGTAGGCTGGACAAGGACAACTACACACTTCGGTTTTTCAAAGGATGCCACCTGGTGACAGCATACATACTTATGAGGATTTATGCTCTCCATGACTGCTCTCATAGCATCGCAGACAAGGTCTATTTTATTCCCGTCAGGATCCCTGGACAGGTAGACACTGCTGGTAACTGGTGCAGGGTACATGGTCTTCGTGACATCTTCTTCTCTAAGAACAGGTGTGTATGGAATGGTCATCAACAGAACATGTAGCCCAGCGATCAAATTACTAACATACACCTGGCATGCTGATGATGATAAATAAAAATGACTTTTGGAAAAGAGTTGAATTATAAAAATATTGAGAAATAAAACATGTCCACAAAAGACTTATACAAATGTTTGTAGATGTTTTAGTCACATTAGCCCCAAACAGGGTAGTACAATCCACATGTCCAGCAACAGGGGAATGAATAAGCAAATAGTGGTGTATTTACACAACGGCATACTACTGACCAATAAAAAAAGAATGAACTAGTGATACATATAAAAACACAGATGAATCTCAAGACAATATGCTGAATGAAAACAGCTTTATGCAGAAGAGTAATACTGTATGCTTCCATTTAGGTGAAGTTCTTGAACAGGCAAAACTGATTTATGGTAAAAAATTCAGAAGAGTAGTTGCCTGGGGAATGGGACAGGGACTGATTGAAAGGAATCTGAAGCAGCTTTCTGAAAAGGAGTAAATGCCCTCTAACTTGACAGAGGTTCAGGTTACATGAAGTGTACATTTGCCAAAACTCACTAAGTGGCACACTTAAGATTTGGACATTTCACTGTAGATAAATATGACCTGAAAAAACACAACAAAACCAACCCATACACAAAGAATGCCCTCTAGTTAATGATATACAAGGAGAAGTACAGGTGGTAGAGTGGACTGATGTCTACAACTCACTTAGCAATTTGTCTACAAACAAGATGAATGATGGATGGACAGATTATAGAGAATGAGAATGTGTATACAGAAAAATATAAACTGGCGAATCCAGGTGGGGTATATATAGGTTGCTTACTGGACAATTCTCTCAACTTTTCTCTATTTTGAAAGTGTTTCATTAAAAAGTTGAGGGGAAAGATCATCAGAGAGAAAGATGCCATTTGATTTCAGTCTCCTAGGAAAAACAAGTAGTTTTATATGTATACCTAAAAATCAAGTGAAATAATAATTCTGAATGACATGTTTTAAGGACATAGTTTTAAACAGGCTGTTTTAAAAAGAACGGAAAAGAGCAAAAAACCAACTGGCATCTAAGAGTTATAGCAATTTTTAAAAATGAACAGTAAGGAATTTTTCTTCTCTAGCTATTTATGCTTGATTTCCTTAACAAGAAGAGAGAAAACTATGGAAAAGATACACATGAATTATTCAAAATACTTACTTCAATTCTGTAAAAAACAAGTTAATATGATTCACAGAATCTATCTGTTTAATGAAGGTTTCCACATTTCCAAGAAACACCTACCAAAAAAAGGACAAAACATCTTCGTTCAGATCATATTAGTTTAAGTACAAAGTAAGCTAGAGTAAATGACAGCTTAGAAAGTTACCTTAGGGTTATGATCATAAATCAGATTGA | benign | 148,847 |
Benign or pathogenic: chromosome 9, position 108897149, gene ELP1 (elongator acetyltransferase complex subunit 1) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_dysautonomia', 'likely other unspecified diseases'] | TAGCCGGGCATGGTGGTGCACGCCTGTAAGCTGAGGTGAGATTGCTTGAGCCTAGGAGGCGTAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCCGGGTGATAGAGCCCGACCTTGTCTCAAAAATAAATAAATAAATACCGCACTCTAGATAAAGACACACTGTAGTCTGCAGGGGTAGGCACTGTGTGCAACAGAAGCATATAGGAGGGTCACCTCACCCAGTCCCTGGAGGGAAGCATGAATGGCTTACTGGGAAGAGGCCACCTTGGCATCCTTTAACCTAGATTAGTGAGAATTAGCCAGGGGAATGGTGAGGGTGGAAGCAGTCAAAGCCCATGGATGGCAGAAGTAATGCTGCCCACCAAGGCATGTGGTGGTGAGGGGCAAGGGAAGGGGGACAAAAGCATTGTCTTTCCTCCATGGGCAGAGGAAAAAAAGACAATACCAAGAAGTGAGAATGGAAAGATACACAGAGGCCAGGTCAAGGAAGGGTTTTTAAGCAGTATTATGGCTTCTGAATTATATCCTCGGAACAATGGGAGCTCATGAAGTATTTTAAGCAGAGAGATGAAGGATCCGATTTTCATTTTTGGAGAGGTCATGGGGAAGAGACTGAGGCTGCAAAAAAATAAATAAAAAATATGCATACCAGTGGTGTTCAAAGTTTTTGATCATAGCAAATGTACCAACATAGGAAAGGAGGCCATGAGCCTTCTGTGCTCCATGTGCCCACCCTCCACTAGAAAAAAGAGCCATGTGAGAAAGAACCGGAGTGGAACATGAACCACTTGTTACATTTCCTTTATAAGAGAAGAAATTAGCTCACACATATGCCCATCATCTTAAAAATAACCATGTAATTTTAGGCCGCACATGGTGGCCCACACCTGTAATTCCAGCACTTTGGGAGACTGAGGTAGGCGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGATGGGCACCTGTAGTCCCAGCTACTAGAGAGGCTGAGGCAGGAGAATGGCGTGAACACGGGAGGTGGAACTTGCAGTAAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACTGAGTGAGACTCCGTCTCAAAAAAAAAGAAACAAAAAAAAGCCATGCAATTTTACTTCACTTCTTCAACCTCACAATCAAAACACTTTCATAAGCACAGGGGCTTAGGAATGTGGGCCCTAGAAACTCACAGATCTGTCTCCAGCCCTGCACTCACAGAGTGATAGCAGAAAAGCTACTGCACTACCAGAAGCAGGGTTTCACACTATCATTATATAAACAAGAACCAAATGGCATAAAAGTAAGAACTCCACATACCTTCTGTGACTTCTCAGCTACCATGAGGACCAAATCAAAGTCATAGGTGCCAAGAGAATGATCATATAATTCATTAACATCTACCAGATGCAGCAAATATTTCAAGGCCTCTTCAGCACTCACAGCATCAGGATCAGAGGGAGCATTTCCTAACAGTGTTTAGAAAACAAAACAGAACACAATCATTTGGGGAAAAAATCCACAGACCTAACAACATAACCAAAAAGACAATAAATTTTTCTCAATAGAACTGGACATCAGAAGAATATATACTTCTGATACTTTTATATATGCTTTAGAGGGCAGCACTGAAAAAAACTGACAAGGGTCTTAAAATGGCAACTAAAAAGTCACATGTTAAATCTGTGGTGTGGCAATGACATGGTGATTGTCACCTGCAGAAGACTAGTAGCAGTCACGGCCACCTTAAGCACTTTCTCTGTGAGCGGATCTCTACCTTGAAGCTCGTGTACTTTTTGCAGTACAATTTCCAGTTCTGGGGTTGTCTTCTTTACATGAGATGTAAGTATGGATAGGCAGTATCTGAGGTAATAAGTGAAGAACACCAGAATGAGAAAGGTAAGTAGGCTGGACAAGGACAACTACACACTTCGGTTTTTCAAAGGATGCCACCTGGTGACAGCATACATACTTATGAGGATTTATGCTCTCCATGACTGCTCTCATAGCATCGCAGACAAGGTCTATTTTATTCCCGTCAGGATCCCTGGACAGGTAGACACTGCTGGTAACTGGTGCAGGGTACATGGTCTTCGTGACATCTTCTTCTCTAAGAACAGGTGTGTATGGAATGGTCATCAACAGAACATGTAGCCCAGCGATCAAATTACTAACATACACCTGGCATGCTGATGATGATAAATAAAAATGACTTTTGGAAAAGAGTTGAATTATAAAAATATTGAGAAATAAAACATGTCCACAAAAGACTTATACAAATGTTTGTAGATGTTTTAGTCACATTAGCCCCAAACAGGGTAGTACAATCCACATGTCCAGCAACAGGGGAATGAATAAGCAAATAGTGGTGTATTTACACAACGGCATACTACTGACCAATAAAAAAAGAATGAACTAGTGATACATATAAAAACACAGATGAATCTCAAGACAATATGCTGAATGAAAACAGCTTTATGCAGAAGAGTAATACTGTATGCTTCCATTTAGGTGAAGTTCTTGAACAGGCAAAACTGATTTATGGTAAAAAATTCAGAAGAGTAGTTGCCTGGGGAATGGGACAGGGACTGATTGAAAGGAATCTGAAGCAGCTTTCTGAAAAGGAGTAAATGCCCTCTAACTTGACAGAGGTTCAGGTTACATGAAGTGTACATTTGCCAAAACTCACTAAGTGGCACACTTAAGATTTGGACATTTCACTGTAGATAAATATGACCTGAAAAAACACAACAAAACCAACCCATACACAAAGAATGCCCTCTAGTTAATGATATACAAGGAGAAGTACAGGTGGTAGAGTGGACTGATGTCTACAACTCACTTAGCAATTTGTCTACAAACAAGATGAATGATGGATGGACAGATTATAGAGAATGAGAATGTGTATACAGAAAAATATAAACTGGCGAATCCAGGTGGGGTATATATAGGTTGCTTACTGGACAATTCTCTCAACTTTTCTCTATTTTGAAAGTGTTTCATTAAAAAGTTGAGGGGAAAGATCATCAGAGAGAAAGATGCCATTTGATTTCAGTCTCCTAGGAAAAACAAGTAGTTTTATATGTATACCTAAAAATCAAGTGAAATAATAATTCTGAATGACATGTTTTAAGGACATAGTTTTAAACAGGCTGTTTTAAAAAGAACGGAAAAGAGCAAAAAACCAACTGGCATCTAAGAGTTATAGCAATTTTTAAAAATGAACAGTAAGGAATTTTTCTTCTCTAGCTATTTATGCTTGATTTCCTTAACAAGAAGAGAGAAAACTATGGAAAAGATACACATGAATTATTCAAAATACTTACTTCAATTCTGTAAAAAACAAGTTAATATGATTCACAGAATCTATCTGTTTAATGAAGGTTTCCACATTTCCAAGAAACACCTACCAAAAAAAGGACAAAACATCTTCGTTCAGATCATATTAGTTTAAGTACAAAGTAAGCTAGAGTAAATGACAGCTTAGAAAGTTACCTTAGGGTTATGATCATAAATCAGATTGAGATTGATTCTCAGCTTTCTCATGCATTCAAATGCCTCTTTAAACATAAGTCTGTGAGAAGACAGAGAAAGAATAGAAAAGATATTCACAAAAACTGAGCTCCATGGGCCCAGCATATTTTCATTATGATACAAACCAGTTATAATCAGATTACAGCCCCAATGCCAAGCTGCTATCACTGGATTTCTACTCTGAAATTACAGAATAAAAAAATCAGGTACCACATTCATTTACCTTCTTAAAAGGTGTAATTTAGTCATCATGACTGTCTGAGAACTACATCTTCACATACATACAACAGAAAATCATTACAGAAGCCCGGGCACGGTGGTTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGAACACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCCAGGCGTGGTGCACACCTGTAATCCTAGCTATGCGGGA | TAGCCGGGCATGGTGGTGCACGCCTGTAAGCTGAGGTGAGATTGCTTGAGCCTAGGAGGCGTAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCCGGGTGATAGAGCCCGACCTTGTCTCAAAAATAAATAAATAAATACCGCACTCTAGATAAAGACACACTGTAGTCTGCAGGGGTAGGCACTGTGTGCAACAGAAGCATATAGGAGGGTCACCTCACCCAGTCCCTGGAGGGAAGCATGAATGGCTTACTGGGAAGAGGCCACCTTGGCATCCTTTAACCTAGATTAGTGAGAATTAGCCAGGGGAATGGTGAGGGTGGAAGCAGTCAAAGCCCATGGATGGCAGAAGTAATGCTGCCCACCAAGGCATGTGGTGGTGAGGGGCAAGGGAAGGGGGACAAAAGCATTGTCTTTCCTCCATGGGCAGAGGAAAAAAAGACAATACCAAGAAGTGAGAATGGAAAGATACACAGAGGCCAGGTCAAGGAAGGGTTTTTAAGCAGTATTATGGCTTCTGAATTATATCCTCGGAACAATGGGAGCTCATGAAGTATTTTAAGCAGAGAGATGAAGGATCCGATTTTCATTTTTGGAGAGGTCATGGGGAAGAGACTGAGGCTGCAAAAAAATAAATAAAAAATATGCATACCAGTGGTGTTCAAAGTTTTTGATCATAGCAAATGTACCAACATAGGAAAGGAGGCCATGAGCCTTCTGTGCTCCATGTGCCCACCCTCCACTAGAAAAAAGAGCCATGTGAGAAAGAACCGGAGTGGAACATGAACCACTTGTTACATTTCCTTTATAAGAGAAGAAATTAGCTCACACATATGCCCATCATCTTAAAAATAACCATGTAATTTTAGGCCGCACATGGTGGCCCACACCTGTAATTCCAGCACTTTGGGAGACTGAGGTAGGCGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGATGGGCACCTGTAGTCCCAGCTACTAGAGAGGCTGAGGCAGGAGAATGGCGTGAACACGGGAGGTGGAACTTGCAGTAAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACTGAGTGAGACTCCGTCTCAAAAAAAAAGAAACAAAAAAAAGCCATGCAATTTTACTTCACTTCTTCAACCTCACAATCAAAACACTTTCATAAGCACAGGGGCTTAGGAATGTGGGCCCTAGAAACTCACAGATCTGTCTCCAGCCCTGCACTCACAGAGTGATAGCAGAAAAGCTACTGCACTACCAGAAGCAGGGTTTCACACTATCATTATATAAACAAGAACCAAATGGCATAAAAGTAAGAACTCCACATACCTTCTGTGACTTCTCAGCTACCATGAGGACCAAATCAAAGTCATAGGTGCCAAGAGAATGATCATATAATTCATTAACATCTACCAGATGCAGCAAATATTTCAAGGCCTCTTCAGCACTCACAGCATCAGGATCAGAGGGAGCATTTCCTAACAGTGTTTAGAAAACAAAACAGAACACAATCATTTGGGGAAAAAATCCACAGACCTAACAACATAACCAAAAAGACAATAAATTTTTCTCAATAGAACTGGACATCAGAAGAATATATACTTCTGATACTTTTATATATGCTTTAGAGGGCAGCACTGAAAAAAACTGACAAGGGTCTTAAAATGGCAACTAAAAAGTCACATGTTAAATCTGTGGTGTGGCAATGACATGGTGATTGTCACCTGCAGAAGACTAGTAGCAGTCACGGCCACCTTAAGCACTTTCTCTGTGAGCGGATCTCTACCTTGAAGCTCGTGTACTTTTTGCAGTACAATTTCCAGTTCTGGGGTTGTCTTCTTTACATGAGATGTAAGTATGGATAGGCAGTATCTGAGGTAATAAGTGAAGAACACCAGAATGAGAAAGGTAAGTAGGCTGGACAAGGACAACTACACACTTCGGTTTTTCAAAGGATGCCACCTGGTGACAGCATACATACTTAATGAGGATTTATGCTCTCCATGACTGCTCTCATAGCATCGCAGACAAGGTCTATTTTATTCCCGTCAGGATCCCTGGACAGGTAGACACTGCTGGTAACTGGTGCAGGGTACATGGTCTTCGTGACATCTTCTTCTCTAAGAACAGGTGTGTATGGAATGGTCATCAACAGAACATGTAGCCCAGCGATCAAATTACTAACATACACCTGGCATGCTGATGATGATAAATAAAAATGACTTTTGGAAAAGAGTTGAATTATAAAAATATTGAGAAATAAAACATGTCCACAAAAGACTTATACAAATGTTTGTAGATGTTTTAGTCACATTAGCCCCAAACAGGGTAGTACAATCCACATGTCCAGCAACAGGGGAATGAATAAGCAAATAGTGGTGTATTTACACAACGGCATACTACTGACCAATAAAAAAAGAATGAACTAGTGATACATATAAAAACACAGATGAATCTCAAGACAATATGCTGAATGAAAACAGCTTTATGCAGAAGAGTAATACTGTATGCTTCCATTTAGGTGAAGTTCTTGAACAGGCAAAACTGATTTATGGTAAAAAATTCAGAAGAGTAGTTGCCTGGGGAATGGGACAGGGACTGATTGAAAGGAATCTGAAGCAGCTTTCTGAAAAGGAGTAAATGCCCTCTAACTTGACAGAGGTTCAGGTTACATGAAGTGTACATTTGCCAAAACTCACTAAGTGGCACACTTAAGATTTGGACATTTCACTGTAGATAAATATGACCTGAAAAAACACAACAAAACCAACCCATACACAAAGAATGCCCTCTAGTTAATGATATACAAGGAGAAGTACAGGTGGTAGAGTGGACTGATGTCTACAACTCACTTAGCAATTTGTCTACAAACAAGATGAATGATGGATGGACAGATTATAGAGAATGAGAATGTGTATACAGAAAAATATAAACTGGCGAATCCAGGTGGGGTATATATAGGTTGCTTACTGGACAATTCTCTCAACTTTTCTCTATTTTGAAAGTGTTTCATTAAAAAGTTGAGGGGAAAGATCATCAGAGAGAAAGATGCCATTTGATTTCAGTCTCCTAGGAAAAACAAGTAGTTTTATATGTATACCTAAAAATCAAGTGAAATAATAATTCTGAATGACATGTTTTAAGGACATAGTTTTAAACAGGCTGTTTTAAAAAGAACGGAAAAGAGCAAAAAACCAACTGGCATCTAAGAGTTATAGCAATTTTTAAAAATGAACAGTAAGGAATTTTTCTTCTCTAGCTATTTATGCTTGATTTCCTTAACAAGAAGAGAGAAAACTATGGAAAAGATACACATGAATTATTCAAAATACTTACTTCAATTCTGTAAAAAACAAGTTAATATGATTCACAGAATCTATCTGTTTAATGAAGGTTTCCACATTTCCAAGAAACACCTACCAAAAAAAGGACAAAACATCTTCGTTCAGATCATATTAGTTTAAGTACAAAGTAAGCTAGAGTAAATGACAGCTTAGAAAGTTACCTTAGGGTTATGATCATAAATCAGATTGAGATTGATTCTCAGCTTTCTCATGCATTCAAATGCCTCTTTAAACATAAGTCTGTGAGAAGACAGAGAAAGAATAGAAAAGATATTCACAAAAACTGAGCTCCATGGGCCCAGCATATTTTCATTATGATACAAACCAGTTATAATCAGATTACAGCCCCAATGCCAAGCTGCTATCACTGGATTTCTACTCTGAAATTACAGAATAAAAAAATCAGGTACCACATTCATTTACCTTCTTAAAAGGTGTAATTTAGTCATCATGACTGTCTGAGAACTACATCTTCACATACATACAACAGAAAATCATTACAGAAGCCCGGGCACGGTGGTTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGAACACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCCAGGCGTGGTGCACACCTGTAATCCTAGCTATGCGGG | pathogenic | 148,859 |
Is the chromosome 9, position 108898539 variant in ELP1 (elongator acetyltransferase complex subunit 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_dysautonomia', 'Medulloblastoma', 'likely other unspecified diseases'] | CATACCTTCTGTGACTTCTCAGCTACCATGAGGACCAAATCAAAGTCATAGGTGCCAAGAGAATGATCATATAATTCATTAACATCTACCAGATGCAGCAAATATTTCAAGGCCTCTTCAGCACTCACAGCATCAGGATCAGAGGGAGCATTTCCTAACAGTGTTTAGAAAACAAAACAGAACACAATCATTTGGGGAAAAAATCCACAGACCTAACAACATAACCAAAAAGACAATAAATTTTTCTCAATAGAACTGGACATCAGAAGAATATATACTTCTGATACTTTTATATATGCTTTAGAGGGCAGCACTGAAAAAAACTGACAAGGGTCTTAAAATGGCAACTAAAAAGTCACATGTTAAATCTGTGGTGTGGCAATGACATGGTGATTGTCACCTGCAGAAGACTAGTAGCAGTCACGGCCACCTTAAGCACTTTCTCTGTGAGCGGATCTCTACCTTGAAGCTCGTGTACTTTTTGCAGTACAATTTCCAGTTCTGGGGTTGTCTTCTTTACATGAGATGTAAGTATGGATAGGCAGTATCTGAGGTAATAAGTGAAGAACACCAGAATGAGAAAGGTAAGTAGGCTGGACAAGGACAACTACACACTTCGGTTTTTCAAAGGATGCCACCTGGTGACAGCATACATACTTATGAGGATTTATGCTCTCCATGACTGCTCTCATAGCATCGCAGACAAGGTCTATTTTATTCCCGTCAGGATCCCTGGACAGGTAGACACTGCTGGTAACTGGTGCAGGGTACATGGTCTTCGTGACATCTTCTTCTCTAAGAACAGGTGTGTATGGAATGGTCATCAACAGAACATGTAGCCCAGCGATCAAATTACTAACATACACCTGGCATGCTGATGATGATAAATAAAAATGACTTTTGGAAAAGAGTTGAATTATAAAAATATTGAGAAATAAAACATGTCCACAAAAGACTTATACAAATGTTTGTAGATGTTTTAGTCACATTAGCCCCAAACAGGGTAGTACAATCCACATGTCCAGCAACAGGGGAATGAATAAGCAAATAGTGGTGTATTTACACAACGGCATACTACTGACCAATAAAAAAAGAATGAACTAGTGATACATATAAAAACACAGATGAATCTCAAGACAATATGCTGAATGAAAACAGCTTTATGCAGAAGAGTAATACTGTATGCTTCCATTTAGGTGAAGTTCTTGAACAGGCAAAACTGATTTATGGTAAAAAATTCAGAAGAGTAGTTGCCTGGGGAATGGGACAGGGACTGATTGAAAGGAATCTGAAGCAGCTTTCTGAAAAGGAGTAAATGCCCTCTAACTTGACAGAGGTTCAGGTTACATGAAGTGTACATTTGCCAAAACTCACTAAGTGGCACACTTAAGATTTGGACATTTCACTGTAGATAAATATGACCTGAAAAAACACAACAAAACCAACCCATACACAAAGAATGCCCTCTAGTTAATGATATACAAGGAGAAGTACAGGTGGTAGAGTGGACTGATGTCTACAACTCACTTAGCAATTTGTCTACAAACAAGATGAATGATGGATGGACAGATTATAGAGAATGAGAATGTGTATACAGAAAAATATAAACTGGCGAATCCAGGTGGGGTATATATAGGTTGCTTACTGGACAATTCTCTCAACTTTTCTCTATTTTGAAAGTGTTTCATTAAAAAGTTGAGGGGAAAGATCATCAGAGAGAAAGATGCCATTTGATTTCAGTCTCCTAGGAAAAACAAGTAGTTTTATATGTATACCTAAAAATCAAGTGAAATAATAATTCTGAATGACATGTTTTAAGGACATAGTTTTAAACAGGCTGTTTTAAAAAGAACGGAAAAGAGCAAAAAACCAACTGGCATCTAAGAGTTATAGCAATTTTTAAAAATGAACAGTAAGGAATTTTTCTTCTCTAGCTATTTATGCTTGATTTCCTTAACAAGAAGAGAGAAAACTATGGAAAAGATACACATGAATTATTCAAAATACTTACTTCAATTCTGTAAAAAACAAGTTAATATGATTCACAGAATCTATCTGTTTAATGAAGGTTTCCACATTTCCAAGAAACACCTACCAAAAAAAGGACAAAACATCTTCGTTCAGATCATATTAGTTTAAGTACAAAGTAAGCTAGAGTAAATGACAGCTTAGAAAGTTACCTTAGGGTTATGATCATAAATCAGATTGAGATTGATTCTCAGCTTTCTCATGCATTCAAATGCCTCTTTAAACATAAGTCTGTGAGAAGACAGAGAAAGAATAGAAAAGATATTCACAAAAACTGAGCTCCATGGGCCCAGCATATTTTCATTATGATACAAACCAGTTATAATCAGATTACAGCCCCAATGCCAAGCTGCTATCACTGGATTTCTACTCTGAAATTACAGAATAAAAAAATCAGGTACCACATTCATTTACCTTCTTAAAAGGTGTAATTTAGTCATCATGACTGTCTGAGAACTACATCTTCACATACATACAACAGAAAATCATTACAGAAGCCCGGGCACGGTGGTTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGAACACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCCAGGCGTGGTGCACACCTGTAATCCTAGCTATGCGGGAGGCTGAAGTGGGAGGATTGCTTGAACCCAGAAGGCAGAGGTTGCAGTAAGCCGAGATTGCGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAACAAAGAAAATCATCATGGAATTCAGGTCTACTTTTTAAACAAAACATTAGTATAGATCTTTCCAATACAAAGTTTCCTCCAAATAGGTTCAGAAAATCAGTCATTTCCTTCACAAGAGTAGCTCAGGCTTTTCTGGGTCATAGGCCCCGCTGTAAATCTATTGAAAGCTGTGGGCTTTCTACTTGAATAAATACACAAAGACAAGGTTTGGTGTGTACAATCTCCCTGGGTTCACAGGCCACCTAAAACCCACATGTGTTCCCTCAGGTTAAGAGAAGCCCTCCTTTATATGATGAGTGTCACGATTCTTTCTGCTAGGAATCTCCACTACAAAATACTGCATTAAAGTAAAAAAGTTAAAAAAAAAAAAAAGAGCCTCTAAGAATCTGATTGATGATATAGGTAATGAGGGCTTTTCATAATTTTAAGTTCTCGAAATTGTAATAAAATACTTATTGTCTTCACACATAAATCACAAGCTAACTAGTCGCAAACAGTACAATGGCACTTACTTGTCCAACCACTTCCGAATCTGAGCTAAAACCAGGGCTCGATGATGAACAACTTCTAAGTTTCCCCTTGGCATCTTAAATAAATTAAAGCAGTAACATTTTTAATTAAGTAGAAAACATTTAAATAGCCAGGATACACCATTTTACCTAACTCTTCACAGAGAATTACCACAACTCTCTAAAATCAGCACACTTTTAGCAGAATCTTGTTGTTCTCTATATTTATCTTGACTTTCAAGAAAAGTTTCGCTTTGAGCCTTATGGTCACAGCCTGTATCAACACTCCTTTGAATAAAGCTAACAGAAAACTATCAAGGAAAGGTTTACAATAAACGATACAAAGAATAAGAAAGCCTAAAATACAACCTGCAAGAATTATGCTTGGTACTTGGCTGAATGACAATCAGACTATCTATCTTGTCTGAAAAACCAGCTTACCTGTAATACAAGCTTTGTGTCCTGGGGCACAACAGTGACAATCCGTGAACCCCTCTCCACTTTCCGCAGAACTTCCCCATGGGACACATGATTGCTGCTCAGGCCGGCCTGTAATGCTAAACACACCATTAACTAATAAGCCTTAATTATCACAACAAGCCACTCTCCATTAACTGCAATTGAAACCGCACACATTATGTGAAATAGAAGAGAACAAATAACAACCATGTGCCTTAGCTCTCCCACTGAACCTCAAGACTATCAGCCCTGCTGATGAACACGCTCATCCCTGGAACTTGCCCTCTCTCTTACAGAGCCCTCATGCAC | CATACCTTCTGTGACTTCTCAGCTACCATGAGGACCAAATCAAAGTCATAGGTGCCAAGAGAATGATCATATAATTCATTAACATCTACCAGATGCAGCAAATATTTCAAGGCCTCTTCAGCACTCACAGCATCAGGATCAGAGGGAGCATTTCCTAACAGTGTTTAGAAAACAAAACAGAACACAATCATTTGGGGAAAAAATCCACAGACCTAACAACATAACCAAAAAGACAATAAATTTTTCTCAATAGAACTGGACATCAGAAGAATATATACTTCTGATACTTTTATATATGCTTTAGAGGGCAGCACTGAAAAAAACTGACAAGGGTCTTAAAATGGCAACTAAAAAGTCACATGTTAAATCTGTGGTGTGGCAATGACATGGTGATTGTCACCTGCAGAAGACTAGTAGCAGTCACGGCCACCTTAAGCACTTTCTCTGTGAGCGGATCTCTACCTTGAAGCTCGTGTACTTTTTGCAGTACAATTTCCAGTTCTGGGGTTGTCTTCTTTACATGAGATGTAAGTATGGATAGGCAGTATCTGAGGTAATAAGTGAAGAACACCAGAATGAGAAAGGTAAGTAGGCTGGACAAGGACAACTACACACTTCGGTTTTTCAAAGGATGCCACCTGGTGACAGCATACATACTTATGAGGATTTATGCTCTCCATGACTGCTCTCATAGCATCGCAGACAAGGTCTATTTTATTCCCGTCAGGATCCCTGGACAGGTAGACACTGCTGGTAACTGGTGCAGGGTACATGGTCTTCGTGACATCTTCTTCTCTAAGAACAGGTGTGTATGGAATGGTCATCAACAGAACATGTAGCCCAGCGATCAAATTACTAACATACACCTGGCATGCTGATGATGATAAATAAAAATGACTTTTGGAAAAGAGTTGAATTATAAAAATATTGAGAAATAAAACATGTCCACAAAAGACTTATACAAATGTTTGTAGATGTTTTAGTCACATTAGCCCCAAACAGGGTAGTACAATCCACATGTCCAGCAACAGGGGAATGAATAAGCAAATAGTGGTGTATTTACACAACGGCATACTACTGACCAATAAAAAAAGAATGAACTAGTGATACATATAAAAACACAGATGAATCTCAAGACAATATGCTGAATGAAAACAGCTTTATGCAGAAGAGTAATACTGTATGCTTCCATTTAGGTGAAGTTCTTGAACAGGCAAAACTGATTTATGGTAAAAAATTCAGAAGAGTAGTTGCCTGGGGAATGGGACAGGGACTGATTGAAAGGAATCTGAAGCAGCTTTCTGAAAAGGAGTAAATGCCCTCTAACTTGACAGAGGTTCAGGTTACATGAAGTGTACATTTGCCAAAACTCACTAAGTGGCACACTTAAGATTTGGACATTTCACTGTAGATAAATATGACCTGAAAAAACACAACAAAACCAACCCATACACAAAGAATGCCCTCTAGTTAATGATATACAAGGAGAAGTACAGGTGGTAGAGTGGACTGATGTCTACAACTCACTTAGCAATTTGTCTACAAACAAGATGAATGATGGATGGACAGATTATAGAGAATGAGAATGTGTATACAGAAAAATATAAACTGGCGAATCCAGGTGGGGTATATATAGGTTGCTTACTGGACAATTCTCTCAACTTTTCTCTATTTTGAAAGTGTTTCATTAAAAAGTTGAGGGGAAAGATCATCAGAGAGAAAGATGCCATTTGATTTCAGTCTCCTAGGAAAAACAAGTAGTTTTATATGTATACCTAAAAATCAAGTGAAATAATAATTCTGAATGACATGTTTTAAGGACATAGTTTTAAACAGGCTGTTTTAAAAAGAACGGAAAAGAGCAAAAAACCAACTGGCATCTAAGAGTTATAGCAATTTTTAAAAATGAACAGTAAGGAATTTTTCTTCTCTAGCTATTTATGCTTGATTTCCTTAACAAGAAGAGAGAAAACTATGGAAAAGATACACATGAATTATTCAAAATACTTACTTCAATTCTGTAAAAAACAAGTTAATATGATTCACAGAATCTGTTTAATGAAGGTTTCCACATTTCCAAGAAACACCTACCAAAAAAAGGACAAAACATCTTCGTTCAGATCATATTAGTTTAAGTACAAAGTAAGCTAGAGTAAATGACAGCTTAGAAAGTTACCTTAGGGTTATGATCATAAATCAGATTGAGATTGATTCTCAGCTTTCTCATGCATTCAAATGCCTCTTTAAACATAAGTCTGTGAGAAGACAGAGAAAGAATAGAAAAGATATTCACAAAAACTGAGCTCCATGGGCCCAGCATATTTTCATTATGATACAAACCAGTTATAATCAGATTACAGCCCCAATGCCAAGCTGCTATCACTGGATTTCTACTCTGAAATTACAGAATAAAAAAATCAGGTACCACATTCATTTACCTTCTTAAAAGGTGTAATTTAGTCATCATGACTGTCTGAGAACTACATCTTCACATACATACAACAGAAAATCATTACAGAAGCCCGGGCACGGTGGTTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGAACACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCCAGGCGTGGTGCACACCTGTAATCCTAGCTATGCGGGAGGCTGAAGTGGGAGGATTGCTTGAACCCAGAAGGCAGAGGTTGCAGTAAGCCGAGATTGCGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAACAAAGAAAATCATCATGGAATTCAGGTCTACTTTTTAAACAAAACATTAGTATAGATCTTTCCAATACAAAGTTTCCTCCAAATAGGTTCAGAAAATCAGTCATTTCCTTCACAAGAGTAGCTCAGGCTTTTCTGGGTCATAGGCCCCGCTGTAAATCTATTGAAAGCTGTGGGCTTTCTACTTGAATAAATACACAAAGACAAGGTTTGGTGTGTACAATCTCCCTGGGTTCACAGGCCACCTAAAACCCACATGTGTTCCCTCAGGTTAAGAGAAGCCCTCCTTTATATGATGAGTGTCACGATTCTTTCTGCTAGGAATCTCCACTACAAAATACTGCATTAAAGTAAAAAAGTTAAAAAAAAAAAAAAGAGCCTCTAAGAATCTGATTGATGATATAGGTAATGAGGGCTTTTCATAATTTTAAGTTCTCGAAATTGTAATAAAATACTTATTGTCTTCACACATAAATCACAAGCTAACTAGTCGCAAACAGTACAATGGCACTTACTTGTCCAACCACTTCCGAATCTGAGCTAAAACCAGGGCTCGATGATGAACAACTTCTAAGTTTCCCCTTGGCATCTTAAATAAATTAAAGCAGTAACATTTTTAATTAAGTAGAAAACATTTAAATAGCCAGGATACACCATTTTACCTAACTCTTCACAGAGAATTACCACAACTCTCTAAAATCAGCACACTTTTAGCAGAATCTTGTTGTTCTCTATATTTATCTTGACTTTCAAGAAAAGTTTCGCTTTGAGCCTTATGGTCACAGCCTGTATCAACACTCCTTTGAATAAAGCTAACAGAAAACTATCAAGGAAAGGTTTACAATAAACGATACAAAGAATAAGAAAGCCTAAAATACAACCTGCAAGAATTATGCTTGGTACTTGGCTGAATGACAATCAGACTATCTATCTTGTCTGAAAAACCAGCTTACCTGTAATACAAGCTTTGTGTCCTGGGGCACAACAGTGACAATCCGTGAACCCCTCTCCACTTTCCGCAGAACTTCCCCATGGGACACATGATTGCTGCTCAGGCCGGCCTGTAATGCTAAACACACCATTAACTAATAAGCCTTAATTATCACAACAAGCCACTCTCCATTAACTGCAATTGAAACCGCACACATTATGTGAAATAGAAGAGAACAAATAACAACCATGTGCCTTAGCTCTCCCACTGAACCTCAAGACTATCAGCCCTGCTGATGAACACGCTCATCCCTGGAACTTGCCCTCTCTCTTACAGAGCCCTCATGCACNNNN | pathogenic | 148,867 |
Is the genetic variant on chromosome 9, position 108898655, gene ELP1 (elongator acetyltransferase complex subunit 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TTCAGCACTCACAGCATCAGGATCAGAGGGAGCATTTCCTAACAGTGTTTAGAAAACAAAACAGAACACAATCATTTGGGGAAAAAATCCACAGACCTAACAACATAACCAAAAAGACAATAAATTTTTCTCAATAGAACTGGACATCAGAAGAATATATACTTCTGATACTTTTATATATGCTTTAGAGGGCAGCACTGAAAAAAACTGACAAGGGTCTTAAAATGGCAACTAAAAAGTCACATGTTAAATCTGTGGTGTGGCAATGACATGGTGATTGTCACCTGCAGAAGACTAGTAGCAGTCACGGCCACCTTAAGCACTTTCTCTGTGAGCGGATCTCTACCTTGAAGCTCGTGTACTTTTTGCAGTACAATTTCCAGTTCTGGGGTTGTCTTCTTTACATGAGATGTAAGTATGGATAGGCAGTATCTGAGGTAATAAGTGAAGAACACCAGAATGAGAAAGGTAAGTAGGCTGGACAAGGACAACTACACACTTCGGTTTTTCAAAGGATGCCACCTGGTGACAGCATACATACTTATGAGGATTTATGCTCTCCATGACTGCTCTCATAGCATCGCAGACAAGGTCTATTTTATTCCCGTCAGGATCCCTGGACAGGTAGACACTGCTGGTAACTGGTGCAGGGTACATGGTCTTCGTGACATCTTCTTCTCTAAGAACAGGTGTGTATGGAATGGTCATCAACAGAACATGTAGCCCAGCGATCAAATTACTAACATACACCTGGCATGCTGATGATGATAAATAAAAATGACTTTTGGAAAAGAGTTGAATTATAAAAATATTGAGAAATAAAACATGTCCACAAAAGACTTATACAAATGTTTGTAGATGTTTTAGTCACATTAGCCCCAAACAGGGTAGTACAATCCACATGTCCAGCAACAGGGGAATGAATAAGCAAATAGTGGTGTATTTACACAACGGCATACTACTGACCAATAAAAAAAGAATGAACTAGTGATACATATAAAAACACAGATGAATCTCAAGACAATATGCTGAATGAAAACAGCTTTATGCAGAAGAGTAATACTGTATGCTTCCATTTAGGTGAAGTTCTTGAACAGGCAAAACTGATTTATGGTAAAAAATTCAGAAGAGTAGTTGCCTGGGGAATGGGACAGGGACTGATTGAAAGGAATCTGAAGCAGCTTTCTGAAAAGGAGTAAATGCCCTCTAACTTGACAGAGGTTCAGGTTACATGAAGTGTACATTTGCCAAAACTCACTAAGTGGCACACTTAAGATTTGGACATTTCACTGTAGATAAATATGACCTGAAAAAACACAACAAAACCAACCCATACACAAAGAATGCCCTCTAGTTAATGATATACAAGGAGAAGTACAGGTGGTAGAGTGGACTGATGTCTACAACTCACTTAGCAATTTGTCTACAAACAAGATGAATGATGGATGGACAGATTATAGAGAATGAGAATGTGTATACAGAAAAATATAAACTGGCGAATCCAGGTGGGGTATATATAGGTTGCTTACTGGACAATTCTCTCAACTTTTCTCTATTTTGAAAGTGTTTCATTAAAAAGTTGAGGGGAAAGATCATCAGAGAGAAAGATGCCATTTGATTTCAGTCTCCTAGGAAAAACAAGTAGTTTTATATGTATACCTAAAAATCAAGTGAAATAATAATTCTGAATGACATGTTTTAAGGACATAGTTTTAAACAGGCTGTTTTAAAAAGAACGGAAAAGAGCAAAAAACCAACTGGCATCTAAGAGTTATAGCAATTTTTAAAAATGAACAGTAAGGAATTTTTCTTCTCTAGCTATTTATGCTTGATTTCCTTAACAAGAAGAGAGAAAACTATGGAAAAGATACACATGAATTATTCAAAATACTTACTTCAATTCTGTAAAAAACAAGTTAATATGATTCACAGAATCTATCTGTTTAATGAAGGTTTCCACATTTCCAAGAAACACCTACCAAAAAAAGGACAAAACATCTTCGTTCAGATCATATTAGTTTAAGTACAAAGTAAGCTAGAGTAAATGACAGCTTAGAAAGTTACCTTAGGGTTATGATCATAAATCAGATTGAGATTGATTCTCAGCTTTCTCATGCATTCAAATGCCTCTTTAAACATAAGTCTGTGAGAAGACAGAGAAAGAATAGAAAAGATATTCACAAAAACTGAGCTCCATGGGCCCAGCATATTTTCATTATGATACAAACCAGTTATAATCAGATTACAGCCCCAATGCCAAGCTGCTATCACTGGATTTCTACTCTGAAATTACAGAATAAAAAAATCAGGTACCACATTCATTTACCTTCTTAAAAGGTGTAATTTAGTCATCATGACTGTCTGAGAACTACATCTTCACATACATACAACAGAAAATCATTACAGAAGCCCGGGCACGGTGGTTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGAACACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCCAGGCGTGGTGCACACCTGTAATCCTAGCTATGCGGGAGGCTGAAGTGGGAGGATTGCTTGAACCCAGAAGGCAGAGGTTGCAGTAAGCCGAGATTGCGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAACAAAGAAAATCATCATGGAATTCAGGTCTACTTTTTAAACAAAACATTAGTATAGATCTTTCCAATACAAAGTTTCCTCCAAATAGGTTCAGAAAATCAGTCATTTCCTTCACAAGAGTAGCTCAGGCTTTTCTGGGTCATAGGCCCCGCTGTAAATCTATTGAAAGCTGTGGGCTTTCTACTTGAATAAATACACAAAGACAAGGTTTGGTGTGTACAATCTCCCTGGGTTCACAGGCCACCTAAAACCCACATGTGTTCCCTCAGGTTAAGAGAAGCCCTCCTTTATATGATGAGTGTCACGATTCTTTCTGCTAGGAATCTCCACTACAAAATACTGCATTAAAGTAAAAAAGTTAAAAAAAAAAAAAAGAGCCTCTAAGAATCTGATTGATGATATAGGTAATGAGGGCTTTTCATAATTTTAAGTTCTCGAAATTGTAATAAAATACTTATTGTCTTCACACATAAATCACAAGCTAACTAGTCGCAAACAGTACAATGGCACTTACTTGTCCAACCACTTCCGAATCTGAGCTAAAACCAGGGCTCGATGATGAACAACTTCTAAGTTTCCCCTTGGCATCTTAAATAAATTAAAGCAGTAACATTTTTAATTAAGTAGAAAACATTTAAATAGCCAGGATACACCATTTTACCTAACTCTTCACAGAGAATTACCACAACTCTCTAAAATCAGCACACTTTTAGCAGAATCTTGTTGTTCTCTATATTTATCTTGACTTTCAAGAAAAGTTTCGCTTTGAGCCTTATGGTCACAGCCTGTATCAACACTCCTTTGAATAAAGCTAACAGAAAACTATCAAGGAAAGGTTTACAATAAACGATACAAAGAATAAGAAAGCCTAAAATACAACCTGCAAGAATTATGCTTGGTACTTGGCTGAATGACAATCAGACTATCTATCTTGTCTGAAAAACCAGCTTACCTGTAATACAAGCTTTGTGTCCTGGGGCACAACAGTGACAATCCGTGAACCCCTCTCCACTTTCCGCAGAACTTCCCCATGGGACACATGATTGCTGCTCAGGCCGGCCTGTAATGCTAAACACACCATTAACTAATAAGCCTTAATTATCACAACAAGCCACTCTCCATTAACTGCAATTGAAACCGCACACATTATGTGAAATAGAAGAGAACAAATAACAACCATGTGCCTTAGCTCTCCCACTGAACCTCAAGACTATCAGCCCTGCTGATGAACACGCTCATCCCTGGAACTTGCCCTCTCTCTTACAGAGCCCTCATGCACATTCACATACACAGCTTCTCAAATGATGTGGAGAAACACAGTTAAGAATTGGGGCAACTTCTCTATTTCTTAGCATTATCAGTGTACTATAATCATATCAATGAAAGAAAGATTCC | TTCAGCACTCACAGCATCAGGATCAGAGGGAGCATTTCCTAACAGTGTTTAGAAAACAAAACAGAACACAATCATTTGGGGAAAAAATCCACAGACCTAACAACATAACCAAAAAGACAATAAATTTTTCTCAATAGAACTGGACATCAGAAGAATATATACTTCTGATACTTTTATATATGCTTTAGAGGGCAGCACTGAAAAAAACTGACAAGGGTCTTAAAATGGCAACTAAAAAGTCACATGTTAAATCTGTGGTGTGGCAATGACATGGTGATTGTCACCTGCAGAAGACTAGTAGCAGTCACGGCCACCTTAAGCACTTTCTCTGTGAGCGGATCTCTACCTTGAAGCTCGTGTACTTTTTGCAGTACAATTTCCAGTTCTGGGGTTGTCTTCTTTACATGAGATGTAAGTATGGATAGGCAGTATCTGAGGTAATAAGTGAAGAACACCAGAATGAGAAAGGTAAGTAGGCTGGACAAGGACAACTACACACTTCGGTTTTTCAAAGGATGCCACCTGGTGACAGCATACATACTTATGAGGATTTATGCTCTCCATGACTGCTCTCATAGCATCGCAGACAAGGTCTATTTTATTCCCGTCAGGATCCCTGGACAGGTAGACACTGCTGGTAACTGGTGCAGGGTACATGGTCTTCGTGACATCTTCTTCTCTAAGAACAGGTGTGTATGGAATGGTCATCAACAGAACATGTAGCCCAGCGATCAAATTACTAACATACACCTGGCATGCTGATGATGATAAATAAAAATGACTTTTGGAAAAGAGTTGAATTATAAAAATATTGAGAAATAAAACATGTCCACAAAAGACTTATACAAATGTTTGTAGATGTTTTAGTCACATTAGCCCCAAACAGGGTAGTACAATCCACATGTCCAGCAACAGGGGAATGAATAAGCAAATAGTGGTGTATTTACACAACGGCATACTACTGACCAATAAAAAAAGAATGAACTAGTGATACATATAAAAACACAGATGAATCTCAAGACAATATGCTGAATGAAAACAGCTTTATGCAGAAGAGTAATACTGTATGCTTCCATTTAGGTGAAGTTCTTGAACAGGCAAAACTGATTTATGGTAAAAAATTCAGAAGAGTAGTTGCCTGGGGAATGGGACAGGGACTGATTGAAAGGAATCTGAAGCAGCTTTCTGAAAAGGAGTAAATGCCCTCTAACTTGACAGAGGTTCAGGTTACATGAAGTGTACATTTGCCAAAACTCACTAAGTGGCACACTTAAGATTTGGACATTTCACTGTAGATAAATATGACCTGAAAAAACACAACAAAACCAACCCATACACAAAGAATGCCCTCTAGTTAATGATATACAAGGAGAAGTACAGGTGGTAGAGTGGACTGATGTCTACAACTCACTTAGCAATTTGTCTACAAACAAGATGAATGATGGATGGACAGATTATAGAGAATGAGAATGTGTATACAGAAAAATATAAACTGGCGAATCCAGGTGGGGTATATATAGGTTGCTTACTGGACAATTCTCTCAACTTTTCTCTATTTTGAAAGTGTTTCATTAAAAAGTTGAGGGGAAAGATCATCAGAGAGAAAGATGCCATTTGATTTCAGTCTCCTAGGAAAAACAAGTAGTTTTATATGTATACCTAAAAATCAAGTGAAATAATAATTCTGAATGACATGTTTTAAGGACATAGTTTTAAACAGGCTGTTTTAAAAAGAACGGAAAAGAGCAAAAAACCAACTGGCATCTAAGAGTTATAGCAATTTTTAAAAATGAACAGTAAGGAATTTTTCTTCTCTAGCTATTTATGCTTGATTTCCTTAACAAGAAGAGAGAAAACTATGGAAAAGATACACATGAATTATTCAAAATACTTACTTCAATTCTGTAAAAAACAAGTTAATATGATTCACAGAATCTATCTGTTTAATGAAGGTTTCCACATTTCCAAGAAACACCTACCAAAAAAAGGACAAAACATCTTCGTTCAGATCATATTAGTTTAAGTACAAAGTAAGCTAGAGTAAATGACAGAAAGTTACCTTAGGGTTATGATCATAAATCAGATTGAGATTGATTCTCAGCTTTCTCATGCATTCAAATGCCTCTTTAAACATAAGTCTGTGAGAAGACAGAGAAAGAATAGAAAAGATATTCACAAAAACTGAGCTCCATGGGCCCAGCATATTTTCATTATGATACAAACCAGTTATAATCAGATTACAGCCCCAATGCCAAGCTGCTATCACTGGATTTCTACTCTGAAATTACAGAATAAAAAAATCAGGTACCACATTCATTTACCTTCTTAAAAGGTGTAATTTAGTCATCATGACTGTCTGAGAACTACATCTTCACATACATACAACAGAAAATCATTACAGAAGCCCGGGCACGGTGGTTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGAACACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCCAGGCGTGGTGCACACCTGTAATCCTAGCTATGCGGGAGGCTGAAGTGGGAGGATTGCTTGAACCCAGAAGGCAGAGGTTGCAGTAAGCCGAGATTGCGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAACAAAGAAAATCATCATGGAATTCAGGTCTACTTTTTAAACAAAACATTAGTATAGATCTTTCCAATACAAAGTTTCCTCCAAATAGGTTCAGAAAATCAGTCATTTCCTTCACAAGAGTAGCTCAGGCTTTTCTGGGTCATAGGCCCCGCTGTAAATCTATTGAAAGCTGTGGGCTTTCTACTTGAATAAATACACAAAGACAAGGTTTGGTGTGTACAATCTCCCTGGGTTCACAGGCCACCTAAAACCCACATGTGTTCCCTCAGGTTAAGAGAAGCCCTCCTTTATATGATGAGTGTCACGATTCTTTCTGCTAGGAATCTCCACTACAAAATACTGCATTAAAGTAAAAAAGTTAAAAAAAAAAAAAAGAGCCTCTAAGAATCTGATTGATGATATAGGTAATGAGGGCTTTTCATAATTTTAAGTTCTCGAAATTGTAATAAAATACTTATTGTCTTCACACATAAATCACAAGCTAACTAGTCGCAAACAGTACAATGGCACTTACTTGTCCAACCACTTCCGAATCTGAGCTAAAACCAGGGCTCGATGATGAACAACTTCTAAGTTTCCCCTTGGCATCTTAAATAAATTAAAGCAGTAACATTTTTAATTAAGTAGAAAACATTTAAATAGCCAGGATACACCATTTTACCTAACTCTTCACAGAGAATTACCACAACTCTCTAAAATCAGCACACTTTTAGCAGAATCTTGTTGTTCTCTATATTTATCTTGACTTTCAAGAAAAGTTTCGCTTTGAGCCTTATGGTCACAGCCTGTATCAACACTCCTTTGAATAAAGCTAACAGAAAACTATCAAGGAAAGGTTTACAATAAACGATACAAAGAATAAGAAAGCCTAAAATACAACCTGCAAGAATTATGCTTGGTACTTGGCTGAATGACAATCAGACTATCTATCTTGTCTGAAAAACCAGCTTACCTGTAATACAAGCTTTGTGTCCTGGGGCACAACAGTGACAATCCGTGAACCCCTCTCCACTTTCCGCAGAACTTCCCCATGGGACACATGATTGCTGCTCAGGCCGGCCTGTAATGCTAAACACACCATTAACTAATAAGCCTTAATTATCACAACAAGCCACTCTCCATTAACTGCAATTGAAACCGCACACATTATGTGAAATAGAAGAGAACAAATAACAACCATGTGCCTTAGCTCTCCCACTGAACCTCAAGACTATCAGCCCTGCTGATGAACACGCTCATCCCTGGAACTTGCCCTCTCTCTTACAGAGCCCTCATGCACATTCACATACACAGCTTCTCAAATGATGTGGAGAAACACAGTTAAGAATTGGGGCAACTTCTCTATTTCTTAGCATTATCAGTGTACTATAATCATATCAATGAAAGAAAGATTCCNNNNN | benign | 148,871 |
Evaluate this variant at chromosome 9, position 108900313, gene ELP1 (elongator acetyltransferase complex subunit 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_dysautonomia'] | CCTAAAAATCAAGTGAAATAATAATTCTGAATGACATGTTTTAAGGACATAGTTTTAAACAGGCTGTTTTAAAAAGAACGGAAAAGAGCAAAAAACCAACTGGCATCTAAGAGTTATAGCAATTTTTAAAAATGAACAGTAAGGAATTTTTCTTCTCTAGCTATTTATGCTTGATTTCCTTAACAAGAAGAGAGAAAACTATGGAAAAGATACACATGAATTATTCAAAATACTTACTTCAATTCTGTAAAAAACAAGTTAATATGATTCACAGAATCTATCTGTTTAATGAAGGTTTCCACATTTCCAAGAAACACCTACCAAAAAAAGGACAAAACATCTTCGTTCAGATCATATTAGTTTAAGTACAAAGTAAGCTAGAGTAAATGACAGCTTAGAAAGTTACCTTAGGGTTATGATCATAAATCAGATTGAGATTGATTCTCAGCTTTCTCATGCATTCAAATGCCTCTTTAAACATAAGTCTGTGAGAAGACAGAGAAAGAATAGAAAAGATATTCACAAAAACTGAGCTCCATGGGCCCAGCATATTTTCATTATGATACAAACCAGTTATAATCAGATTACAGCCCCAATGCCAAGCTGCTATCACTGGATTTCTACTCTGAAATTACAGAATAAAAAAATCAGGTACCACATTCATTTACCTTCTTAAAAGGTGTAATTTAGTCATCATGACTGTCTGAGAACTACATCTTCACATACATACAACAGAAAATCATTACAGAAGCCCGGGCACGGTGGTTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGAACACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCCAGGCGTGGTGCACACCTGTAATCCTAGCTATGCGGGAGGCTGAAGTGGGAGGATTGCTTGAACCCAGAAGGCAGAGGTTGCAGTAAGCCGAGATTGCGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAACAAAGAAAATCATCATGGAATTCAGGTCTACTTTTTAAACAAAACATTAGTATAGATCTTTCCAATACAAAGTTTCCTCCAAATAGGTTCAGAAAATCAGTCATTTCCTTCACAAGAGTAGCTCAGGCTTTTCTGGGTCATAGGCCCCGCTGTAAATCTATTGAAAGCTGTGGGCTTTCTACTTGAATAAATACACAAAGACAAGGTTTGGTGTGTACAATCTCCCTGGGTTCACAGGCCACCTAAAACCCACATGTGTTCCCTCAGGTTAAGAGAAGCCCTCCTTTATATGATGAGTGTCACGATTCTTTCTGCTAGGAATCTCCACTACAAAATACTGCATTAAAGTAAAAAAGTTAAAAAAAAAAAAAAGAGCCTCTAAGAATCTGATTGATGATATAGGTAATGAGGGCTTTTCATAATTTTAAGTTCTCGAAATTGTAATAAAATACTTATTGTCTTCACACATAAATCACAAGCTAACTAGTCGCAAACAGTACAATGGCACTTACTTGTCCAACCACTTCCGAATCTGAGCTAAAACCAGGGCTCGATGATGAACAACTTCTAAGTTTCCCCTTGGCATCTTAAATAAATTAAAGCAGTAACATTTTTAATTAAGTAGAAAACATTTAAATAGCCAGGATACACCATTTTACCTAACTCTTCACAGAGAATTACCACAACTCTCTAAAATCAGCACACTTTTAGCAGAATCTTGTTGTTCTCTATATTTATCTTGACTTTCAAGAAAAGTTTCGCTTTGAGCCTTATGGTCACAGCCTGTATCAACACTCCTTTGAATAAAGCTAACAGAAAACTATCAAGGAAAGGTTTACAATAAACGATACAAAGAATAAGAAAGCCTAAAATACAACCTGCAAGAATTATGCTTGGTACTTGGCTGAATGACAATCAGACTATCTATCTTGTCTGAAAAACCAGCTTACCTGTAATACAAGCTTTGTGTCCTGGGGCACAACAGTGACAATCCGTGAACCCCTCTCCACTTTCCGCAGAACTTCCCCATGGGACACATGATTGCTGCTCAGGCCGGCCTGTAATGCTAAACACACCATTAACTAATAAGCCTTAATTATCACAACAAGCCACTCTCCATTAACTGCAATTGAAACCGCACACATTATGTGAAATAGAAGAGAACAAATAACAACCATGTGCCTTAGCTCTCCCACTGAACCTCAAGACTATCAGCCCTGCTGATGAACACGCTCATCCCTGGAACTTGCCCTCTCTCTTACAGAGCCCTCATGCACATTCACATACACAGCTTCTCAAATGATGTGGAGAAACACAGTTAAGAATTGGGGCAACTTCTCTATTTCTTAGCATTATCAGTGTACTATAATCATATCAATGAAAGAAAGATTCCCTATTTCCAAGTTGGAAGCAAAGAAAATAAGTTGGCTTTTTAGAATAAGGAACACACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACAGAGATAGATAGGGCATGGAACAGAAGACAAAATGCAGCCAATATCCTACAAACCACTAGATGGAGCGCAGATGTACAGTGGAGGGTGGGCACAGTGGGAAAAGACTACACAGAAGGTAAAACATTGGGGATCTACATAGTAATTCCAAATAAAATATTAGATCAGTTACATAATAAAATTTCCTGAAAAGTTTTTAACTTTAGAATGTGCTGCTTAAGGAAGGAACTCCCTTCCTTGGATGTCTTTACTAAAGTGCAGAATGATTTAACTGAGATATTATGTTGAGATTAGGGTCTAAGTAAAATAACTCTAAAGATTTTCTCCAGCCTAGGACTCCTTGATAAAAAGCCAAAATAAATGAAGAATTCAAAAAGTCATCAAGACTCCAAAAGACATTGGAGAAGGGACCATTTCTGTTTTATACATTGAAAACTTACTTTTAAATGAAGCATCCCTCAGGCAAAAACACTGGCAGGTATGGGAATGGGTTGTCAACAATAAAAACTCATCATATACTGCAAATGACGTGATATTTGACGCAACCTGCAAGAGAAGGCCAGAGAGGCATGGGTGAAAGCTAGCTAGATTACTCGGAGCTAACACTGTGAAAAGGATCCAACACCAAACCAAGCCTTGATACCTCAATGTCATTGATGAAAAAGCGACACCTGTCAGTCAGACCAAGGACACATTCCTGCAAAGAAATAAAACTGAAATCACAAGCAATTCTATCTCAAATCAGTTAAACCTACCTTTTCTATCACATAGTTCTACCACCCTATGATTTCACACCTAAGTTCCTGTAATCAGGACTAAAGATAGATACCTAAGACGTGGCTGGTCCAGTGCAAAATGGAATGTGAAGCCATCCAATCCATCAGTGAGCCCTGACATCTCCATCTCCTACACATATCTCAAACCCATCTCCTTTTTCCCCTCACTAACTCCACTCAACCGGTGTTGATCCCATATTCCAGTCTCGTCACTCTCCAATCAAGTCTCTTCTGGGCAGCCAGAATCACTGTCCAAACCATGAAGCAGAACACATTACTCTGTTATTAAAAATCACAAGAAGTTTCTAATCTTTGTTCAATTAAAGAACCCAAATTCCCTCCTATGACTGTCACTGAGCTCCAGCCACAATACTTCCATCCAGTCCCTTGAATAAGATGAGCTCTTGCTAAGCTCAAGGAGTTTGTTGTTCCTTCTGCCTGGAGACAGAGCCTTCTTTTTCTTCACATCTCAGCACACACATCACTGCCTCCGAGAGGCCTTCCTGGACCACCAGATGCAGGACTCCCATTCTCATAGCCACCATCCTCAAATTACCCCTCAAACATCTCAGTATTCTCTACCAGTATACTCTGTCCATT | CCTAAAAATCAAGTGAAATAATAATTCTGAATGACATGTTTTAAGGACATAGTTTTAAACAGGCTGTTTTAAAAAGAACGGAAAAGAGCAAAAAACCAACTGGCATCTAAGAGTTATAGCAATTTTTAAAAATGAACAGTAAGGAATTTTTCTTCTCTAGCTATTTATGCTTGATTTCCTTAACAAGAAGAGAGAAAACTATGGAAAAGATACACATGAATTATTCAAAATACTTACTTCAATTCTGTAAAAAACAAGTTAATATGATTCACAGAATCTATCTGTTTAATGAAGGTTTCCACATTTCCAAGAAACACCTACCAAAAAAAGGACAAAACATCTTCGTTCAGATCATATTAGTTTAAGTACAAAGTAAGCTAGAGTAAATGACAGCTTAGAAAGTTACCTTAGGGTTATGATCATAAATCAGATTGAGATTGATTCTCAGCTTTCTCATGCATTCAAATGCCTCTTTAAACATAAGTCTGTGAGAAGACAGAGAAAGAATAGAAAAGATATTCACAAAAACTGAGCTCCATGGGCCCAGCATATTTTCATTATGATACAAACCAGTTATAATCAGATTACAGCCCCAATGCCAAGCTGCTATCACTGGATTTCTACTCTGAAATTACAGAATAAAAAAATCAGGTACCACATTCATTTACCTTCTTAAAAGGTGTAATTTAGTCATCATGACTGTCTGAGAACTACATCTTCACATACATACAACAGAAAATCATTACAGAAGCCCGGGCACGGTGGTTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGAACACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCCAGGCGTGGTGCACACCTGTAATCCTAGCTATGCGGGAGGCTGAAGTGGGAGGATTGCTTGAACCCAGAAGGCAGAGGTTGCAGTAAGCCGAGATTGCGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAACAAAGAAAATCATCATGGAATTCAGGTCTACTTTTTAAACAAAACATTAGTATAGATCTTTCCAATACAAAGTTTCCTCCAAATAGGTTCAGAAAATCAGTCATTTCCTTCACAAGAGTAGCTCAGGCTTTTCTGGGTCATAGGCCCCGCTGTAAATCTATTGAAAGCTGTGGGCTTTCTACTTGAATAAATACACAAAGACAAGGTTTGGTGTGTACAATCTCCCTGGGTTCACAGGCCACCTAAAACCCACATGTGTTCCCTCAGGTTAAGAGAAGCCCTCCTTTATATGATGAGTGTCACGATTCTTTCTGCTAGGAATCTCCACTACAAAATACTGCATTAAAGTAAAAAAGTTAAAAAAAAAAAAAAGAGCCTCTAAGAATCTGATTGATGATATAGGTAATGAGGGCTTTTCATAATTTTAAGTTCTCGAAATTGTAATAAAATACTTATTGTCTTCACACATAAATCACAAGCTAACTAGTCGCAAACAGTACAATGGCACTTACTTGTCCAACCACTTCCGAATCTGAGCTAAAACCAGGGCTCGATGATGAACAACTTCTAAGTTTCCCCTTGGCATCTTAAATAAATTAAAGCAGTAACATTTTTAATTAAGTAGAAAACATTTAAATAGCCAGGATACACCATTTTACCTAACTCTTCACAGAGAATTACCACAACTCTCTAAAATCAGCACACTTTTAGCAGAATCTTGTTGTTCTCTATATTTATCTTGACTTTCAAGAAAAGTTTCGCTTTGAGCCTTATGGTCACAGCCTGTATCAACACTCCTTTGAATAAAGCTAACAGAAAACTATCAAGGAAAGGTTTACAATAAACGATACAAAGAATAAGAAAGCCTAAAATACAACCTGCAAGAATTATGCTTGGTACTTGGCTGAATGACAATCAGACTATCTATCTTGTCTGAAAAACCAGCTTACCTGTAATACAAGCTTTGTGTCCTGGGGCACAACAGTGACAATCCGTGAACCCCTCCTCCACTTTCCGCAGAACTTCCCCATGGGACACATGATTGCTGCTCAGGCCGGCCTGTAATGCTAAACACACCATTAACTAATAAGCCTTAATTATCACAACAAGCCACTCTCCATTAACTGCAATTGAAACCGCACACATTATGTGAAATAGAAGAGAACAAATAACAACCATGTGCCTTAGCTCTCCCACTGAACCTCAAGACTATCAGCCCTGCTGATGAACACGCTCATCCCTGGAACTTGCCCTCTCTCTTACAGAGCCCTCATGCACATTCACATACACAGCTTCTCAAATGATGTGGAGAAACACAGTTAAGAATTGGGGCAACTTCTCTATTTCTTAGCATTATCAGTGTACTATAATCATATCAATGAAAGAAAGATTCCCTATTTCCAAGTTGGAAGCAAAGAAAATAAGTTGGCTTTTTAGAATAAGGAACACACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACAGAGATAGATAGGGCATGGAACAGAAGACAAAATGCAGCCAATATCCTACAAACCACTAGATGGAGCGCAGATGTACAGTGGAGGGTGGGCACAGTGGGAAAAGACTACACAGAAGGTAAAACATTGGGGATCTACATAGTAATTCCAAATAAAATATTAGATCAGTTACATAATAAAATTTCCTGAAAAGTTTTTAACTTTAGAATGTGCTGCTTAAGGAAGGAACTCCCTTCCTTGGATGTCTTTACTAAAGTGCAGAATGATTTAACTGAGATATTATGTTGAGATTAGGGTCTAAGTAAAATAACTCTAAAGATTTTCTCCAGCCTAGGACTCCTTGATAAAAAGCCAAAATAAATGAAGAATTCAAAAAGTCATCAAGACTCCAAAAGACATTGGAGAAGGGACCATTTCTGTTTTATACATTGAAAACTTACTTTTAAATGAAGCATCCCTCAGGCAAAAACACTGGCAGGTATGGGAATGGGTTGTCAACAATAAAAACTCATCATATACTGCAAATGACGTGATATTTGACGCAACCTGCAAGAGAAGGCCAGAGAGGCATGGGTGAAAGCTAGCTAGATTACTCGGAGCTAACACTGTGAAAAGGATCCAACACCAAACCAAGCCTTGATACCTCAATGTCATTGATGAAAAAGCGACACCTGTCAGTCAGACCAAGGACACATTCCTGCAAAGAAATAAAACTGAAATCACAAGCAATTCTATCTCAAATCAGTTAAACCTACCTTTTCTATCACATAGTTCTACCACCCTATGATTTCACACCTAAGTTCCTGTAATCAGGACTAAAGATAGATACCTAAGACGTGGCTGGTCCAGTGCAAAATGGAATGTGAAGCCATCCAATCCATCAGTGAGCCCTGACATCTCCATCTCCTACACATATCTCAAACCCATCTCCTTTTTCCCCTCACTAACTCCACTCAACCGGTGTTGATCCCATATTCCAGTCTCGTCACTCTCCAATCAAGTCTCTTCTGGGCAGCCAGAATCACTGTCCAAACCATGAAGCAGAACACATTACTCTGTTATTAAAAATCACAAGAAGTTTCTAATCTTTGTTCAATTAAAGAACCCAAATTCCCTCCTATGACTGTCACTGAGCTCCAGCCACAATACTTCCATCCAGTCCCTTGAATAAGATGAGCTCTTGCTAAGCTCAAGGAGTTTGTTGTTCCTTCTGCCTGGAGACAGAGCCTTCTTTTTCTTCACATCTCAGCACACACATCACTGCCTCCGAGAGGCCTTCCTGGACCACCAGATGCAGGACTCCCATTCTCATAGCCACCATCCTCAAATTACCCCTCAAACATCTCAGTATTCTCTACCAGTATACTCTGTCCAT | pathogenic | 148,886 |
The mutation in gene ELP1 (elongator acetyltransferase complex subunit 1) at chromosome 9, position 108902940—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_dysautonomia', 'Medulloblastoma'] | CCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACAGAGATAGATAGGGCATGGAACAGAAGACAAAATGCAGCCAATATCCTACAAACCACTAGATGGAGCGCAGATGTACAGTGGAGGGTGGGCACAGTGGGAAAAGACTACACAGAAGGTAAAACATTGGGGATCTACATAGTAATTCCAAATAAAATATTAGATCAGTTACATAATAAAATTTCCTGAAAAGTTTTTAACTTTAGAATGTGCTGCTTAAGGAAGGAACTCCCTTCCTTGGATGTCTTTACTAAAGTGCAGAATGATTTAACTGAGATATTATGTTGAGATTAGGGTCTAAGTAAAATAACTCTAAAGATTTTCTCCAGCCTAGGACTCCTTGATAAAAAGCCAAAATAAATGAAGAATTCAAAAAGTCATCAAGACTCCAAAAGACATTGGAGAAGGGACCATTTCTGTTTTATACATTGAAAACTTACTTTTAAATGAAGCATCCCTCAGGCAAAAACACTGGCAGGTATGGGAATGGGTTGTCAACAATAAAAACTCATCATATACTGCAAATGACGTGATATTTGACGCAACCTGCAAGAGAAGGCCAGAGAGGCATGGGTGAAAGCTAGCTAGATTACTCGGAGCTAACACTGTGAAAAGGATCCAACACCAAACCAAGCCTTGATACCTCAATGTCATTGATGAAAAAGCGACACCTGTCAGTCAGACCAAGGACACATTCCTGCAAAGAAATAAAACTGAAATCACAAGCAATTCTATCTCAAATCAGTTAAACCTACCTTTTCTATCACATAGTTCTACCACCCTATGATTTCACACCTAAGTTCCTGTAATCAGGACTAAAGATAGATACCTAAGACGTGGCTGGTCCAGTGCAAAATGGAATGTGAAGCCATCCAATCCATCAGTGAGCCCTGACATCTCCATCTCCTACACATATCTCAAACCCATCTCCTTTTTCCCCTCACTAACTCCACTCAACCGGTGTTGATCCCATATTCCAGTCTCGTCACTCTCCAATCAAGTCTCTTCTGGGCAGCCAGAATCACTGTCCAAACCATGAAGCAGAACACATTACTCTGTTATTAAAAATCACAAGAAGTTTCTAATCTTTGTTCAATTAAAGAACCCAAATTCCCTCCTATGACTGTCACTGAGCTCCAGCCACAATACTTCCATCCAGTCCCTTGAATAAGATGAGCTCTTGCTAAGCTCAAGGAGTTTGTTGTTCCTTCTGCCTGGAGACAGAGCCTTCTTTTTCTTCACATCTCAGCACACACATCACTGCCTCCGAGAGGCCTTCCTGGACCACCAGATGCAGGACTCCCATTCTCATAGCCACCATCCTCAAATTACCCCTCAAACATCTCAGTATTCTCTACCAGTATACTCTGTCCATTTCCATCACACTCCCAACAAAGGGAATCATTACATTGAAATTAATAGATCACAAGTTCCAGAAGAGCAGGAATTAGTCAAGCGGTTTTGTTTTCCAGCCACTGCATTCTACCATCCACCACAATTATAGGCATTCTAGTATGTGTTGAATAAAAATCTACTAAAACTATTCTCAAGATCACATTTCTGTTTCCCCTCCTAAATAAAATTAACTTTGAATGATTTGTACAACTAGGGATAAAAGGTTGCTAATCACATATATTATCTCATTTAGTCTTCTGAACCCTGATAGACAGATACTGATTTTCCCATTTTATAGATGAATAAGGTGTGGCTTATGAAAGTGAGATCATTTCCCACTATTGTCTAGGCATTTAGTGGAGACCCAAGTCCACCTCCAAAGCCCACGCTCTTTCTACTTAATGCCATCAGTCCCTGGGTAACTACTTTAAGTAAATTTCCTGCTCCGTGTTCACCTACCTCTTCTCCAATCATGGCCAATTCGGTCTGGGTGCATGGATAAGGAAACCGAACAGGAAATCCACCAGAGTTCTTCCATGGTTTAATAGCCAGAGAAGGTGACTCTGCAAGATTCACAGATCTAGTTCACAAATAGCTGATGCGCTCTTTGCAAAAAACCATCAACATCAACATTTGCTAAAACACTTAACATGCAATTTCAATCACTTTTTTTCTCTAATGCTGGCATTATTTATTTATATATATATTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAATGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAACTTGTCATTTACATTAGGTATATCTCCTAATGCTATCCCTCCACCCTCCCCCACCCCACGACAGGCCCAGGTGTGTGATGTTCTCCTTCCTGTGTCCAAGTGTTCTCACTGTTCAGTTCCCACCTATGAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCCTGCGATAGTCATCAATCACTTTTTTAAGAGTACGTTAGTTCATTAAAAGAGGAAACAGGAGTAGAATACACTTGCCAATTCCACTCTAAAGCTTAGGGTTTTCCAGGGTAGTTAAAAGACCTGACAATCAATATTGAACTGACAAGATACAAGTACATGTTCTTAAGAACTAAGCATCTATGTAAGTCATAACATGCTTTCCTAACACCTTGATACTCACCCCAAAGGTACTTAAATATCTGGCCATCAGCCAGCTGTAATACTACTGACTTGGTCTTGGAATTGCAACATAGACTGATTATGACCCCATCCACCGCTGCAGATGAACTGACAAAAAAAAGGAGAAGGGAGTGTAAACAGACCATTTTTCTCAAAAATAGTGACATTTCACTGATTTTGAAAATCAACAATTTCCTTTTGATGCTGCACTACCTACTTCAATACAATGTAGACAAAATACATATATACACACCCAATACTATACACACACACACACACACACACACACACTTATACACTTAGAGACAGACGGTTAGATGAATAGATAAAACTACTCCAAACCAAAGCCCAGATAAAGCCACATCTGCTACATGACACCATTTTCCACAAACCCAATAAGGTAGTTGTTTACACTGTGAAGTCATCATTCCTCTTCTGGCCACAACTTACTGCAACTTATTACAAAGTATTGCCTTCATTAGACATGGATGGTACCAATATCATTTCTGTCTGCTTAAAATAGTTAAAGCAGCTGGTCTGTAGGAAAATGAGCACACTCAATATCTCTATCACTATCATATCGATTGATGGAAAATTGTGGATTTTCACTAATGAGATGAAGGGAATTTGTTATCACCATTACATTTTTTCCCTGAGTCAATGGAGCGAAGTAAAATTTCACTATTTTTTTTTTTTTTTTTGGACAGTGTCTTGCTCTGTTGCCCAGGTTGAAATGCAGTTGACACAATCACAGCTCACCGCAATCTCAACCTCCTAGGCTCAAGTGATCCTCCCACCTCACCTTCTCAAGTAGCTTGGACCATAGCCACGGAAGCAGAATTTCTCAAAAGAGGAGGAAGAGGTAGTGATTAAAAAAAGAAAAAAGAGACAAAGAAGTAGTGATAAAAGCAAATGATGTTAATGCTAACATTTAATTCAAAGTTTTTAACCAATCTACAAAAAAACTAAACATTATAACAATAGGGAATTCCTCTACAAATGCTTCAAATTTTGTGAGGATAAATTATCTGTCAAGAAGAGAACAAACTCTGGAGCTAGACTCGCTGGGATTTGATCCTGGCTCCACCTGCATGATCTCAGGCAAGTTATCTAACTGCTCCATGTCTTAGTTGTCTCATCTGTAAAATGATGGTGCAAATGGCATATACTTTACAGAGGTATTATGAGAAATAAGTAAGCTAAAACAGACAAAGCATTTAGAAGAGTATTTTTTACAAAGTATAAGCTAAAGTAAATGTAAACTAAATCGAGGGACTTTGTAGTCCTCAAAAGCATTAATATTTTATATGAACAAAACAGTCTTTTTGAGAAATAAAAGTCAAAGCAGTAGAAATATACTGTAAATGACTTCTCATTTCCTTTACAGCAAATGAGATGACTGCATCAAGCTTTTGCCTCTACAAGC | CCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACAGAGATAGATAGGGCATGGAACAGAAGACAAAATGCAGCCAATATCCTACAAACCACTAGATGGAGCGCAGATGTACAGTGGAGGGTGGGCACAGTGGGAAAAGACTACACAGAAGGTAAAACATTGGGGATCTACATAGTAATTCCAAATAAAATATTAGATCAGTTACATAATAAAATTTCCTGAAAAGTTTTTAACTTTAGAATGTGCTGCTTAAGGAAGGAACTCCCTTCCTTGGATGTCTTTACTAAAGTGCAGAATGATTTAACTGAGATATTATGTTGAGATTAGGGTCTAAGTAAAATAACTCTAAAGATTTTCTCCAGCCTAGGACTCCTTGATAAAAAGCCAAAATAAATGAAGAATTCAAAAAGTCATCAAGACTCCAAAAGACATTGGAGAAGGGACCATTTCTGTTTTATACATTGAAAACTTACTTTTAAATGAAGCATCCCTCAGGCAAAAACACTGGCAGGTATGGGAATGGGTTGTCAACAATAAAAACTCATCATATACTGCAAATGACGTGATATTTGACGCAACCTGCAAGAGAAGGCCAGAGAGGCATGGGTGAAAGCTAGCTAGATTACTCGGAGCTAACACTGTGAAAAGGATCCAACACCAAACCAAGCCTTGATACCTCAATGTCATTGATGAAAAAGCGACACCTGTCAGTCAGACCAAGGACACATTCCTGCAAAGAAATAAAACTGAAATCACAAGCAATTCTATCTCAAATCAGTTAAACCTACCTTTTCTATCACATAGTTCTACCACCCTATGATTTCACACCTAAGTTCCTGTAATCAGGACTAAAGATAGATACCTAAGACGTGGCTGGTCCAGTGCAAAATGGAATGTGAAGCCATCCAATCCATCAGTGAGCCCTGACATCTCCATCTCCTACACATATCTCAAACCCATCTCCTTTTTCCCCTCACTAACTCCACTCAACCGGTGTTGATCCCATATTCCAGTCTCGTCACTCTCCAATCAAGTCTCTTCTGGGCAGCCAGAATCACTGTCCAAACCATGAAGCAGAACACATTACTCTGTTATTAAAAATCACAAGAAGTTTCTAATCTTTGTTCAATTAAAGAACCCAAATTCCCTCCTATGACTGTCACTGAGCTCCAGCCACAATACTTCCATCCAGTCCCTTGAATAAGATGAGCTCTTGCTAAGCTCAAGGAGTTTGTTGTTCCTTCTGCCTGGAGACAGAGCCTTCTTTTTCTTCACATCTCAGCACACACATCACTGCCTCCGAGAGGCCTTCCTGGACCACCAGATGCAGGACTCCCATTCTCATAGCCACCATCCTCAAATTACCCCTCAAACATCTCAGTATTCTCTACCAGTATACTCTGTCCATTTCCATCACACTCCCAACAAAGGGAATCATTACATTGAAATTAATAGATCACAAGTTCCAGAAGAGCAGGAATTAGTCAAGCGGTTTTGTTTTCCAGCCACTGCATTCTACCATCCACCACAATTATAGGCATTCTAGTATGTGTTGAATAAAAATCTACTAAAACTATTCTCAAGATCACATTTCTGTTTCCCCTCCTAAATAAAATTAACTTTGAATGATTTGTACAACTAGGGATAAAAGGTTGCTAATCACATATATTATCTCATTTAGTCTTCTGAACCCTGATAGACAGATACTGATTTTCCCATTTTATAGATGAATAAGGTGTGGCTTATGAAAGTGAGATCATTTCCCACTATTGTCTAGGCATTTAGTGGAGACCCAAGTCCACCTCCAAAGCCCACGCTCTTTCTACTTAATGCCATCAGTCCCTGGGTAACTACTTTAAGTAAATTTCCTGCTCCGTGTTCACCTACCTCTTCTCCAATCATGGCCAATTCGGTCTGGGTGCATGGATAAGGAAACCGAACAGGAAATCCACCAGAGTTCTTCCATGGTTTAATAGCCAGAGAAGGTGACTGCAAGATTCACAGATCTAGTTCACAAATAGCTGATGCGCTCTTTGCAAAAAACCATCAACATCAACATTTGCTAAAACACTTAACATGCAATTTCAATCACTTTTTTTCTCTAATGCTGGCATTATTTATTTATATATATATTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAATGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAACTTGTCATTTACATTAGGTATATCTCCTAATGCTATCCCTCCACCCTCCCCCACCCCACGACAGGCCCAGGTGTGTGATGTTCTCCTTCCTGTGTCCAAGTGTTCTCACTGTTCAGTTCCCACCTATGAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCCTGCGATAGTCATCAATCACTTTTTTAAGAGTACGTTAGTTCATTAAAAGAGGAAACAGGAGTAGAATACACTTGCCAATTCCACTCTAAAGCTTAGGGTTTTCCAGGGTAGTTAAAAGACCTGACAATCAATATTGAACTGACAAGATACAAGTACATGTTCTTAAGAACTAAGCATCTATGTAAGTCATAACATGCTTTCCTAACACCTTGATACTCACCCCAAAGGTACTTAAATATCTGGCCATCAGCCAGCTGTAATACTACTGACTTGGTCTTGGAATTGCAACATAGACTGATTATGACCCCATCCACCGCTGCAGATGAACTGACAAAAAAAAGGAGAAGGGAGTGTAAACAGACCATTTTTCTCAAAAATAGTGACATTTCACTGATTTTGAAAATCAACAATTTCCTTTTGATGCTGCACTACCTACTTCAATACAATGTAGACAAAATACATATATACACACCCAATACTATACACACACACACACACACACACACACACTTATACACTTAGAGACAGACGGTTAGATGAATAGATAAAACTACTCCAAACCAAAGCCCAGATAAAGCCACATCTGCTACATGACACCATTTTCCACAAACCCAATAAGGTAGTTGTTTACACTGTGAAGTCATCATTCCTCTTCTGGCCACAACTTACTGCAACTTATTACAAAGTATTGCCTTCATTAGACATGGATGGTACCAATATCATTTCTGTCTGCTTAAAATAGTTAAAGCAGCTGGTCTGTAGGAAAATGAGCACACTCAATATCTCTATCACTATCATATCGATTGATGGAAAATTGTGGATTTTCACTAATGAGATGAAGGGAATTTGTTATCACCATTACATTTTTTCCCTGAGTCAATGGAGCGAAGTAAAATTTCACTATTTTTTTTTTTTTTTTTGGACAGTGTCTTGCTCTGTTGCCCAGGTTGAAATGCAGTTGACACAATCACAGCTCACCGCAATCTCAACCTCCTAGGCTCAAGTGATCCTCCCACCTCACCTTCTCAAGTAGCTTGGACCATAGCCACGGAAGCAGAATTTCTCAAAAGAGGAGGAAGAGGTAGTGATTAAAAAAAGAAAAAAGAGACAAAGAAGTAGTGATAAAAGCAAATGATGTTAATGCTAACATTTAATTCAAAGTTTTTAACCAATCTACAAAAAAACTAAACATTATAACAATAGGGAATTCCTCTACAAATGCTTCAAATTTTGTGAGGATAAATTATCTGTCAAGAAGAGAACAAACTCTGGAGCTAGACTCGCTGGGATTTGATCCTGGCTCCACCTGCATGATCTCAGGCAAGTTATCTAACTGCTCCATGTCTTAGTTGTCTCATCTGTAAAATGATGGTGCAAATGGCATATACTTTACAGAGGTATTATGAGAAATAAGTAAGCTAAAACAGACAAAGCATTTAGAAGAGTATTTTTTACAAAGTATAAGCTAAAGTAAATGTAAACTAAATCGAGGGACTTTGTAGTCCTCAAAAGCATTAATATTTTATATGAACAAAACAGTCTTTTTGAGAAATAAAAGTCAAAGCAGTAGAAATATACTGTAAATGACTTCTCATTTCCTTTACAGCAAATGAGATGACTGCATCAAGCTTTTGCCTCTACAAGCNN | pathogenic | 148,902 |
Variant chromosome 9, position 108903674, gene ELP1 (elongator acetyltransferase complex subunit 1): benign or pathogenic? Disease(s)? | benign | ACCTCAATGTCATTGATGAAAAAGCGACACCTGTCAGTCAGACCAAGGACACATTCCTGCAAAGAAATAAAACTGAAATCACAAGCAATTCTATCTCAAATCAGTTAAACCTACCTTTTCTATCACATAGTTCTACCACCCTATGATTTCACACCTAAGTTCCTGTAATCAGGACTAAAGATAGATACCTAAGACGTGGCTGGTCCAGTGCAAAATGGAATGTGAAGCCATCCAATCCATCAGTGAGCCCTGACATCTCCATCTCCTACACATATCTCAAACCCATCTCCTTTTTCCCCTCACTAACTCCACTCAACCGGTGTTGATCCCATATTCCAGTCTCGTCACTCTCCAATCAAGTCTCTTCTGGGCAGCCAGAATCACTGTCCAAACCATGAAGCAGAACACATTACTCTGTTATTAAAAATCACAAGAAGTTTCTAATCTTTGTTCAATTAAAGAACCCAAATTCCCTCCTATGACTGTCACTGAGCTCCAGCCACAATACTTCCATCCAGTCCCTTGAATAAGATGAGCTCTTGCTAAGCTCAAGGAGTTTGTTGTTCCTTCTGCCTGGAGACAGAGCCTTCTTTTTCTTCACATCTCAGCACACACATCACTGCCTCCGAGAGGCCTTCCTGGACCACCAGATGCAGGACTCCCATTCTCATAGCCACCATCCTCAAATTACCCCTCAAACATCTCAGTATTCTCTACCAGTATACTCTGTCCATTTCCATCACACTCCCAACAAAGGGAATCATTACATTGAAATTAATAGATCACAAGTTCCAGAAGAGCAGGAATTAGTCAAGCGGTTTTGTTTTCCAGCCACTGCATTCTACCATCCACCACAATTATAGGCATTCTAGTATGTGTTGAATAAAAATCTACTAAAACTATTCTCAAGATCACATTTCTGTTTCCCCTCCTAAATAAAATTAACTTTGAATGATTTGTACAACTAGGGATAAAAGGTTGCTAATCACATATATTATCTCATTTAGTCTTCTGAACCCTGATAGACAGATACTGATTTTCCCATTTTATAGATGAATAAGGTGTGGCTTATGAAAGTGAGATCATTTCCCACTATTGTCTAGGCATTTAGTGGAGACCCAAGTCCACCTCCAAAGCCCACGCTCTTTCTACTTAATGCCATCAGTCCCTGGGTAACTACTTTAAGTAAATTTCCTGCTCCGTGTTCACCTACCTCTTCTCCAATCATGGCCAATTCGGTCTGGGTGCATGGATAAGGAAACCGAACAGGAAATCCACCAGAGTTCTTCCATGGTTTAATAGCCAGAGAAGGTGACTCTGCAAGATTCACAGATCTAGTTCACAAATAGCTGATGCGCTCTTTGCAAAAAACCATCAACATCAACATTTGCTAAAACACTTAACATGCAATTTCAATCACTTTTTTTCTCTAATGCTGGCATTATTTATTTATATATATATTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAATGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAACTTGTCATTTACATTAGGTATATCTCCTAATGCTATCCCTCCACCCTCCCCCACCCCACGACAGGCCCAGGTGTGTGATGTTCTCCTTCCTGTGTCCAAGTGTTCTCACTGTTCAGTTCCCACCTATGAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCCTGCGATAGTCATCAATCACTTTTTTAAGAGTACGTTAGTTCATTAAAAGAGGAAACAGGAGTAGAATACACTTGCCAATTCCACTCTAAAGCTTAGGGTTTTCCAGGGTAGTTAAAAGACCTGACAATCAATATTGAACTGACAAGATACAAGTACATGTTCTTAAGAACTAAGCATCTATGTAAGTCATAACATGCTTTCCTAACACCTTGATACTCACCCCAAAGGTACTTAAATATCTGGCCATCAGCCAGCTGTAATACTACTGACTTGGTCTTGGAATTGCAACATAGACTGATTATGACCCCATCCACCGCTGCAGATGAACTGACAAAAAAAAGGAGAAGGGAGTGTAAACAGACCATTTTTCTCAAAAATAGTGACATTTCACTGATTTTGAAAATCAACAATTTCCTTTTGATGCTGCACTACCTACTTCAATACAATGTAGACAAAATACATATATACACACCCAATACTATACACACACACACACACACACACACACACTTATACACTTAGAGACAGACGGTTAGATGAATAGATAAAACTACTCCAAACCAAAGCCCAGATAAAGCCACATCTGCTACATGACACCATTTTCCACAAACCCAATAAGGTAGTTGTTTACACTGTGAAGTCATCATTCCTCTTCTGGCCACAACTTACTGCAACTTATTACAAAGTATTGCCTTCATTAGACATGGATGGTACCAATATCATTTCTGTCTGCTTAAAATAGTTAAAGCAGCTGGTCTGTAGGAAAATGAGCACACTCAATATCTCTATCACTATCATATCGATTGATGGAAAATTGTGGATTTTCACTAATGAGATGAAGGGAATTTGTTATCACCATTACATTTTTTCCCTGAGTCAATGGAGCGAAGTAAAATTTCACTATTTTTTTTTTTTTTTTTGGACAGTGTCTTGCTCTGTTGCCCAGGTTGAAATGCAGTTGACACAATCACAGCTCACCGCAATCTCAACCTCCTAGGCTCAAGTGATCCTCCCACCTCACCTTCTCAAGTAGCTTGGACCATAGCCACGGAAGCAGAATTTCTCAAAAGAGGAGGAAGAGGTAGTGATTAAAAAAAGAAAAAAGAGACAAAGAAGTAGTGATAAAAGCAAATGATGTTAATGCTAACATTTAATTCAAAGTTTTTAACCAATCTACAAAAAAACTAAACATTATAACAATAGGGAATTCCTCTACAAATGCTTCAAATTTTGTGAGGATAAATTATCTGTCAAGAAGAGAACAAACTCTGGAGCTAGACTCGCTGGGATTTGATCCTGGCTCCACCTGCATGATCTCAGGCAAGTTATCTAACTGCTCCATGTCTTAGTTGTCTCATCTGTAAAATGATGGTGCAAATGGCATATACTTTACAGAGGTATTATGAGAAATAAGTAAGCTAAAACAGACAAAGCATTTAGAAGAGTATTTTTTACAAAGTATAAGCTAAAGTAAATGTAAACTAAATCGAGGGACTTTGTAGTCCTCAAAAGCATTAATATTTTATATGAACAAAACAGTCTTTTTGAGAAATAAAAGTCAAAGCAGTAGAAATATACTGTAAATGACTTCTCATTTCCTTTACAGCAAATGAGATGACTGCATCAAGCTTTTGCCTCTACAAGCTAATGATGAAGAATTTCAAATCTGAAGAAGTAGAAACTTAGTAAATTGCTCCGCTTTTCAAAAGGTAATCTAATGGCTTACTTTAAGTGCTACATATTTCTAGAACATATTCTGCATTTAGACATGTTAACAAAAGGCTTTTTCAAAATATCACGAAAGACTATGAGTCAAAGAGTAGCAGCAAATGACTGCATTAAAATGTTTTATGTCTATAAATTTATGTAATGTATATATATAAAGGAAAGGTTCCTAATTTTGCAACAACGTTTCTCAGAAATCTCACCAGTAGGGCTTTAATTACAAATTAATCTGGGGATTAGTGTCAGTGGACAAAGGTGCCAAGTATTGACACTGGAAACAAGGAGTTCTGGGAACTGGCTAGAAAATGCTATCAACTATACAACAGGGCTTACATTACACAGAAGAGCATTCATTAACTGAAACCTGTTACATAATGAAGATATAGTCAGGAATCAAAACAAAACTCAGGCCCAGAGAACAGTGAAATTTCAGCAAAGAAGAATAGAGACTTTCTAATGGTAAATGTAGTCAGGTACAAAATAGGATATATAGAAGAGGAGGCTGGAAGAAGCATTTTGAAGTCACCACATCAAAACAAAGCATATATGTGCAATTATGCATCATTTAACGATGGGGATACGTCTGAGAAATGTGTTGTTAGGTGATTTCATCATTGTGCAAACATCATAGAGTACTTACACAAACCTAGGTGG | ACCTCAATGTCATTGATGAAAAAGCGACACCTGTCAGTCAGACCAAGGACACATTCCTGCAAAGAAATAAAACTGAAATCACAAGCAATTCTATCTCAAATCAGTTAAACCTACCTTTTCTATCACATAGTTCTACCACCCTATGATTTCACACCTAAGTTCCTGTAATCAGGACTAAAGATAGATACCTAAGACGTGGCTGGTCCAGTGCAAAATGGAATGTGAAGCCATCCAATCCATCAGTGAGCCCTGACATCTCCATCTCCTACACATATCTCAAACCCATCTCCTTTTTCCCCTCACTAACTCCACTCAACCGGTGTTGATCCCATATTCCAGTCTCGTCACTCTCCAATCAAGTCTCTTCTGGGCAGCCAGAATCACTGTCCAAACCATGAAGCAGAACACATTACTCTGTTATTAAAAATCACAAGAAGTTTCTAATCTTTGTTCAATTAAAGAACCCAAATTCCCTCCTATGACTGTCACTGAGCTCCAGCCACAATACTTCCATCCAGTCCCTTGAATAAGATGAGCTCTTGCTAAGCTCAAGGAGTTTGTTGTTCCTTCTGCCTGGAGACAGAGCCTTCTTTTTCTTCACATCTCAGCACACACATCACTGCCTCCGAGAGGCCTTCCTGGACCACCAGATGCAGGACTCCCATTCTCATAGCCACCATCCTCAAATTACCCCTCAAACATCTCAGTATTCTCTACCAGTATACTCTGTCCATTTCCATCACACTCCCAACAAAGGGAATCATTACATTGAAATTAATAGATCACAAGTTCCAGAAGAGCAGGAATTAGTCAAGCGGTTTTGTTTTCCAGCCACTGCATTCTACCATCCACCACAATTATAGGCATTCTAGTATGTGTTGAATAAAAATCTACTAAAACTATTCTCAAGATCACATTTCTGTTTCCCCTCCTAAATAAAATTAACTTTGAATGATTTGTACAACTAGGGATAAAAGGTTGCTAATCACATATATTATCTCATTTAGTCTTCTGAACCCTGATAGACAGATACTGATTTTCCCATTTTATAGATGAATAAGGTGTGGCTTATGAAAGTGAGATCATTTCCCACTATTGTCTAGGCATTTAGTGGAGACCCAAGTCCACCTCCAAAGCCCACGCTCTTTCTACTTAATGCCATCAGTCCCTGGGTAACTACTTTAAGTAAATTTCCTGCTCCGTGTTCACCTACCTCTTCTCCAATCATGGCCAATTCGGTCTGGGTGCATGGATAAGGAAACCGAACAGGAAATCCACCAGAGTTCTTCCATGGTTTAATAGCCAGAGAAGGTGACTCTGCAAGATTCACAGATCTAGTTCACAAATAGCTGATGCGCTCTTTGCAAAAAACCATCAACATCAACATTTGCTAAAACACTTAACATGCAATTTCAATCACTTTTTTTCTCTAATGCTGGCATTATTTATTTATATATATATTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAATGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAACTTGTCATTTACATTAGGTATATCTCCTAATGCTATCCCTCCACCCTCCCCCACCCCACGACAGGCCCAGGTGTGTGATGTTCTCCTTCCTGTGTCCAAGTGTTCTCACTGTTCAGTTCCCACCTATGAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCCTGCGATAGTCATCAATCACTTTTTTAAGAGTACGTTAGTTCATTAAAAGAGGAAACAGGAGTAGAATACACTTGCCAATTCCACTCTAAAGCTTAGGGTTTTCCAGGGTAGTTAAAAGACCTGACAATCAATATTGAACTGACAAGATACAAGTACATGTTCTTAAGAACTAAGCATCTATGTAAGTCATAACATGCTTTCCTAACACCTTGATACTCACCCCAAAGGTACTTAAATATCTGGCCATCAGCCAGCTGTAATACTACTGACTTGGTCTTGGAATTGCAACATAGACTGATTATGACCCCATCCACCGCTGCAGATGAACTGACAAAAAAAAAGGAGAAGGGAGTGTAAACAGACCATTTTTCTCAAAAATAGTGACATTTCACTGATTTTGAAAATCAACAATTTCCTTTTGATGCTGCACTACCTACTTCAATACAATGTAGACAAAATACATATATACACACCCAATACTATACACACACACACACACACACACACACACTTATACACTTAGAGACAGACGGTTAGATGAATAGATAAAACTACTCCAAACCAAAGCCCAGATAAAGCCACATCTGCTACATGACACCATTTTCCACAAACCCAATAAGGTAGTTGTTTACACTGTGAAGTCATCATTCCTCTTCTGGCCACAACTTACTGCAACTTATTACAAAGTATTGCCTTCATTAGACATGGATGGTACCAATATCATTTCTGTCTGCTTAAAATAGTTAAAGCAGCTGGTCTGTAGGAAAATGAGCACACTCAATATCTCTATCACTATCATATCGATTGATGGAAAATTGTGGATTTTCACTAATGAGATGAAGGGAATTTGTTATCACCATTACATTTTTTCCCTGAGTCAATGGAGCGAAGTAAAATTTCACTATTTTTTTTTTTTTTTTTGGACAGTGTCTTGCTCTGTTGCCCAGGTTGAAATGCAGTTGACACAATCACAGCTCACCGCAATCTCAACCTCCTAGGCTCAAGTGATCCTCCCACCTCACCTTCTCAAGTAGCTTGGACCATAGCCACGGAAGCAGAATTTCTCAAAAGAGGAGGAAGAGGTAGTGATTAAAAAAAGAAAAAAGAGACAAAGAAGTAGTGATAAAAGCAAATGATGTTAATGCTAACATTTAATTCAAAGTTTTTAACCAATCTACAAAAAAACTAAACATTATAACAATAGGGAATTCCTCTACAAATGCTTCAAATTTTGTGAGGATAAATTATCTGTCAAGAAGAGAACAAACTCTGGAGCTAGACTCGCTGGGATTTGATCCTGGCTCCACCTGCATGATCTCAGGCAAGTTATCTAACTGCTCCATGTCTTAGTTGTCTCATCTGTAAAATGATGGTGCAAATGGCATATACTTTACAGAGGTATTATGAGAAATAAGTAAGCTAAAACAGACAAAGCATTTAGAAGAGTATTTTTTACAAAGTATAAGCTAAAGTAAATGTAAACTAAATCGAGGGACTTTGTAGTCCTCAAAAGCATTAATATTTTATATGAACAAAACAGTCTTTTTGAGAAATAAAAGTCAAAGCAGTAGAAATATACTGTAAATGACTTCTCATTTCCTTTACAGCAAATGAGATGACTGCATCAAGCTTTTGCCTCTACAAGCTAATGATGAAGAATTTCAAATCTGAAGAAGTAGAAACTTAGTAAATTGCTCCGCTTTTCAAAAGGTAATCTAATGGCTTACTTTAAGTGCTACATATTTCTAGAACATATTCTGCATTTAGACATGTTAACAAAAGGCTTTTTCAAAATATCACGAAAGACTATGAGTCAAAGAGTAGCAGCAAATGACTGCATTAAAATGTTTTATGTCTATAAATTTATGTAATGTATATATATAAAGGAAAGGTTCCTAATTTTGCAACAACGTTTCTCAGAAATCTCACCAGTAGGGCTTTAATTACAAATTAATCTGGGGATTAGTGTCAGTGGACAAAGGTGCCAAGTATTGACACTGGAAACAAGGAGTTCTGGGAACTGGCTAGAAAATGCTATCAACTATACAACAGGGCTTACATTACACAGAAGAGCATTCATTAACTGAAACCTGTTACATAATGAAGATATAGTCAGGAATCAAAACAAAACTCAGGCCCAGAGAACAGTGAAATTTCAGCAAAGAAGAATAGAGACTTTCTAATGGTAAATGTAGTCAGGTACAAAATAGGATATATAGAAGAGGAGGCTGGAAGAAGCATTTTGAAGTCACCACATCAAAACAAAGCATATATGTGCAATTATGCATCATTTAACGATGGGGATACGTCTGAGAAATGTGTTGTTAGGTGATTTCATCATTGTGCAAACATCATAGAGTACTTACACAAACCTAGGTG | benign | 148,907 |
A genetic alteration at chromosome 9, position 108903681, in gene ELP1 (elongator acetyltransferase complex subunit 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TGTCATTGATGAAAAAGCGACACCTGTCAGTCAGACCAAGGACACATTCCTGCAAAGAAATAAAACTGAAATCACAAGCAATTCTATCTCAAATCAGTTAAACCTACCTTTTCTATCACATAGTTCTACCACCCTATGATTTCACACCTAAGTTCCTGTAATCAGGACTAAAGATAGATACCTAAGACGTGGCTGGTCCAGTGCAAAATGGAATGTGAAGCCATCCAATCCATCAGTGAGCCCTGACATCTCCATCTCCTACACATATCTCAAACCCATCTCCTTTTTCCCCTCACTAACTCCACTCAACCGGTGTTGATCCCATATTCCAGTCTCGTCACTCTCCAATCAAGTCTCTTCTGGGCAGCCAGAATCACTGTCCAAACCATGAAGCAGAACACATTACTCTGTTATTAAAAATCACAAGAAGTTTCTAATCTTTGTTCAATTAAAGAACCCAAATTCCCTCCTATGACTGTCACTGAGCTCCAGCCACAATACTTCCATCCAGTCCCTTGAATAAGATGAGCTCTTGCTAAGCTCAAGGAGTTTGTTGTTCCTTCTGCCTGGAGACAGAGCCTTCTTTTTCTTCACATCTCAGCACACACATCACTGCCTCCGAGAGGCCTTCCTGGACCACCAGATGCAGGACTCCCATTCTCATAGCCACCATCCTCAAATTACCCCTCAAACATCTCAGTATTCTCTACCAGTATACTCTGTCCATTTCCATCACACTCCCAACAAAGGGAATCATTACATTGAAATTAATAGATCACAAGTTCCAGAAGAGCAGGAATTAGTCAAGCGGTTTTGTTTTCCAGCCACTGCATTCTACCATCCACCACAATTATAGGCATTCTAGTATGTGTTGAATAAAAATCTACTAAAACTATTCTCAAGATCACATTTCTGTTTCCCCTCCTAAATAAAATTAACTTTGAATGATTTGTACAACTAGGGATAAAAGGTTGCTAATCACATATATTATCTCATTTAGTCTTCTGAACCCTGATAGACAGATACTGATTTTCCCATTTTATAGATGAATAAGGTGTGGCTTATGAAAGTGAGATCATTTCCCACTATTGTCTAGGCATTTAGTGGAGACCCAAGTCCACCTCCAAAGCCCACGCTCTTTCTACTTAATGCCATCAGTCCCTGGGTAACTACTTTAAGTAAATTTCCTGCTCCGTGTTCACCTACCTCTTCTCCAATCATGGCCAATTCGGTCTGGGTGCATGGATAAGGAAACCGAACAGGAAATCCACCAGAGTTCTTCCATGGTTTAATAGCCAGAGAAGGTGACTCTGCAAGATTCACAGATCTAGTTCACAAATAGCTGATGCGCTCTTTGCAAAAAACCATCAACATCAACATTTGCTAAAACACTTAACATGCAATTTCAATCACTTTTTTTCTCTAATGCTGGCATTATTTATTTATATATATATTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAATGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAACTTGTCATTTACATTAGGTATATCTCCTAATGCTATCCCTCCACCCTCCCCCACCCCACGACAGGCCCAGGTGTGTGATGTTCTCCTTCCTGTGTCCAAGTGTTCTCACTGTTCAGTTCCCACCTATGAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCCTGCGATAGTCATCAATCACTTTTTTAAGAGTACGTTAGTTCATTAAAAGAGGAAACAGGAGTAGAATACACTTGCCAATTCCACTCTAAAGCTTAGGGTTTTCCAGGGTAGTTAAAAGACCTGACAATCAATATTGAACTGACAAGATACAAGTACATGTTCTTAAGAACTAAGCATCTATGTAAGTCATAACATGCTTTCCTAACACCTTGATACTCACCCCAAAGGTACTTAAATATCTGGCCATCAGCCAGCTGTAATACTACTGACTTGGTCTTGGAATTGCAACATAGACTGATTATGACCCCATCCACCGCTGCAGATGAACTGACAAAAAAAAGGAGAAGGGAGTGTAAACAGACCATTTTTCTCAAAAATAGTGACATTTCACTGATTTTGAAAATCAACAATTTCCTTTTGATGCTGCACTACCTACTTCAATACAATGTAGACAAAATACATATATACACACCCAATACTATACACACACACACACACACACACACACACTTATACACTTAGAGACAGACGGTTAGATGAATAGATAAAACTACTCCAAACCAAAGCCCAGATAAAGCCACATCTGCTACATGACACCATTTTCCACAAACCCAATAAGGTAGTTGTTTACACTGTGAAGTCATCATTCCTCTTCTGGCCACAACTTACTGCAACTTATTACAAAGTATTGCCTTCATTAGACATGGATGGTACCAATATCATTTCTGTCTGCTTAAAATAGTTAAAGCAGCTGGTCTGTAGGAAAATGAGCACACTCAATATCTCTATCACTATCATATCGATTGATGGAAAATTGTGGATTTTCACTAATGAGATGAAGGGAATTTGTTATCACCATTACATTTTTTCCCTGAGTCAATGGAGCGAAGTAAAATTTCACTATTTTTTTTTTTTTTTTTGGACAGTGTCTTGCTCTGTTGCCCAGGTTGAAATGCAGTTGACACAATCACAGCTCACCGCAATCTCAACCTCCTAGGCTCAAGTGATCCTCCCACCTCACCTTCTCAAGTAGCTTGGACCATAGCCACGGAAGCAGAATTTCTCAAAAGAGGAGGAAGAGGTAGTGATTAAAAAAAGAAAAAAGAGACAAAGAAGTAGTGATAAAAGCAAATGATGTTAATGCTAACATTTAATTCAAAGTTTTTAACCAATCTACAAAAAAACTAAACATTATAACAATAGGGAATTCCTCTACAAATGCTTCAAATTTTGTGAGGATAAATTATCTGTCAAGAAGAGAACAAACTCTGGAGCTAGACTCGCTGGGATTTGATCCTGGCTCCACCTGCATGATCTCAGGCAAGTTATCTAACTGCTCCATGTCTTAGTTGTCTCATCTGTAAAATGATGGTGCAAATGGCATATACTTTACAGAGGTATTATGAGAAATAAGTAAGCTAAAACAGACAAAGCATTTAGAAGAGTATTTTTTACAAAGTATAAGCTAAAGTAAATGTAAACTAAATCGAGGGACTTTGTAGTCCTCAAAAGCATTAATATTTTATATGAACAAAACAGTCTTTTTGAGAAATAAAAGTCAAAGCAGTAGAAATATACTGTAAATGACTTCTCATTTCCTTTACAGCAAATGAGATGACTGCATCAAGCTTTTGCCTCTACAAGCTAATGATGAAGAATTTCAAATCTGAAGAAGTAGAAACTTAGTAAATTGCTCCGCTTTTCAAAAGGTAATCTAATGGCTTACTTTAAGTGCTACATATTTCTAGAACATATTCTGCATTTAGACATGTTAACAAAAGGCTTTTTCAAAATATCACGAAAGACTATGAGTCAAAGAGTAGCAGCAAATGACTGCATTAAAATGTTTTATGTCTATAAATTTATGTAATGTATATATATAAAGGAAAGGTTCCTAATTTTGCAACAACGTTTCTCAGAAATCTCACCAGTAGGGCTTTAATTACAAATTAATCTGGGGATTAGTGTCAGTGGACAAAGGTGCCAAGTATTGACACTGGAAACAAGGAGTTCTGGGAACTGGCTAGAAAATGCTATCAACTATACAACAGGGCTTACATTACACAGAAGAGCATTCATTAACTGAAACCTGTTACATAATGAAGATATAGTCAGGAATCAAAACAAAACTCAGGCCCAGAGAACAGTGAAATTTCAGCAAAGAAGAATAGAGACTTTCTAATGGTAAATGTAGTCAGGTACAAAATAGGATATATAGAAGAGGAGGCTGGAAGAAGCATTTTGAAGTCACCACATCAAAACAAAGCATATATGTGCAATTATGCATCATTTAACGATGGGGATACGTCTGAGAAATGTGTTGTTAGGTGATTTCATCATTGTGCAAACATCATAGAGTACTTACACAAACCTAGGTGGTGTAGCC | TGTCATTGATGAAAAAGCGACACCTGTCAGTCAGACCAAGGACACATTCCTGCAAAGAAATAAAACTGAAATCACAAGCAATTCTATCTCAAATCAGTTAAACCTACCTTTTCTATCACATAGTTCTACCACCCTATGATTTCACACCTAAGTTCCTGTAATCAGGACTAAAGATAGATACCTAAGACGTGGCTGGTCCAGTGCAAAATGGAATGTGAAGCCATCCAATCCATCAGTGAGCCCTGACATCTCCATCTCCTACACATATCTCAAACCCATCTCCTTTTTCCCCTCACTAACTCCACTCAACCGGTGTTGATCCCATATTCCAGTCTCGTCACTCTCCAATCAAGTCTCTTCTGGGCAGCCAGAATCACTGTCCAAACCATGAAGCAGAACACATTACTCTGTTATTAAAAATCACAAGAAGTTTCTAATCTTTGTTCAATTAAAGAACCCAAATTCCCTCCTATGACTGTCACTGAGCTCCAGCCACAATACTTCCATCCAGTCCCTTGAATAAGATGAGCTCTTGCTAAGCTCAAGGAGTTTGTTGTTCCTTCTGCCTGGAGACAGAGCCTTCTTTTTCTTCACATCTCAGCACACACATCACTGCCTCCGAGAGGCCTTCCTGGACCACCAGATGCAGGACTCCCATTCTCATAGCCACCATCCTCAAATTACCCCTCAAACATCTCAGTATTCTCTACCAGTATACTCTGTCCATTTCCATCACACTCCCAACAAAGGGAATCATTACATTGAAATTAATAGATCACAAGTTCCAGAAGAGCAGGAATTAGTCAAGCGGTTTTGTTTTCCAGCCACTGCATTCTACCATCCACCACAATTATAGGCATTCTAGTATGTGTTGAATAAAAATCTACTAAAACTATTCTCAAGATCACATTTCTGTTTCCCCTCCTAAATAAAATTAACTTTGAATGATTTGTACAACTAGGGATAAAAGGTTGCTAATCACATATATTATCTCATTTAGTCTTCTGAACCCTGATAGACAGATACTGATTTTCCCATTTTATAGATGAATAAGGTGTGGCTTATGAAAGTGAGATCATTTCCCACTATTGTCTAGGCATTTAGTGGAGACCCAAGTCCACCTCCAAAGCCCACGCTCTTTCTACTTAATGCCATCAGTCCCTGGGTAACTACTTTAAGTAAATTTCCTGCTCCGTGTTCACCTACCTCTTCTCCAATCATGGCCAATTCGGTCTGGGTGCATGGATAAGGAAACCGAACAGGAAATCCACCAGAGTTCTTCCATGGTTTAATAGCCAGAGAAGGTGACTCTGCAAGATTCACAGATCTAGTTCACAAATAGCTGATGCGCTCTTTGCAAAAAACCATCAACATCAACATTTGCTAAAACACTTAACATGCAATTTCAATCACTTTTTTTCTCTAATGCTGGCATTATTTATTTATATATATATTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAATGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAACTTGTCATTTACATTAGGTATATCTCCTAATGCTATCCCTCCACCCTCCCCCACCCCACGACAGGCCCAGGTGTGTGATGTTCTCCTTCCTGTGTCCAAGTGTTCTCACTGTTCAGTTCCCACCTATGAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCCTGCGATAGTCATCAATCACTTTTTTAAGAGTACGTTAGTTCATTAAAAGAGGAAACAGGAGTAGAATACACTTGCCAATTCCACTCTAAAGCTTAGGGTTTTCCAGGGTAGTTAAAAGACCTGACAATCAATATTGAACTGACAAGATACAAGTACATGTTCTTAAGAACTAAGCATCTATGTAAGTCATAACATGCTTTCCTAACACCTTGATACTCACCCCAAAGGTACTTAAATATCTGGCCATCAGCCAGCTGTAATACTACTGACTTGGTCTTGGAATTGCAACATAGACTGATTATGACCCCATCCACCGCTGCAGATGAACTGACAAAAAAAAGAAGGGAGTGTAAACAGACCATTTTTCTCAAAAATAGTGACATTTCACTGATTTTGAAAATCAACAATTTCCTTTTGATGCTGCACTACCTACTTCAATACAATGTAGACAAAATACATATATACACACCCAATACTATACACACACACACACACACACACACACACTTATACACTTAGAGACAGACGGTTAGATGAATAGATAAAACTACTCCAAACCAAAGCCCAGATAAAGCCACATCTGCTACATGACACCATTTTCCACAAACCCAATAAGGTAGTTGTTTACACTGTGAAGTCATCATTCCTCTTCTGGCCACAACTTACTGCAACTTATTACAAAGTATTGCCTTCATTAGACATGGATGGTACCAATATCATTTCTGTCTGCTTAAAATAGTTAAAGCAGCTGGTCTGTAGGAAAATGAGCACACTCAATATCTCTATCACTATCATATCGATTGATGGAAAATTGTGGATTTTCACTAATGAGATGAAGGGAATTTGTTATCACCATTACATTTTTTCCCTGAGTCAATGGAGCGAAGTAAAATTTCACTATTTTTTTTTTTTTTTTTGGACAGTGTCTTGCTCTGTTGCCCAGGTTGAAATGCAGTTGACACAATCACAGCTCACCGCAATCTCAACCTCCTAGGCTCAAGTGATCCTCCCACCTCACCTTCTCAAGTAGCTTGGACCATAGCCACGGAAGCAGAATTTCTCAAAAGAGGAGGAAGAGGTAGTGATTAAAAAAAGAAAAAAGAGACAAAGAAGTAGTGATAAAAGCAAATGATGTTAATGCTAACATTTAATTCAAAGTTTTTAACCAATCTACAAAAAAACTAAACATTATAACAATAGGGAATTCCTCTACAAATGCTTCAAATTTTGTGAGGATAAATTATCTGTCAAGAAGAGAACAAACTCTGGAGCTAGACTCGCTGGGATTTGATCCTGGCTCCACCTGCATGATCTCAGGCAAGTTATCTAACTGCTCCATGTCTTAGTTGTCTCATCTGTAAAATGATGGTGCAAATGGCATATACTTTACAGAGGTATTATGAGAAATAAGTAAGCTAAAACAGACAAAGCATTTAGAAGAGTATTTTTTACAAAGTATAAGCTAAAGTAAATGTAAACTAAATCGAGGGACTTTGTAGTCCTCAAAAGCATTAATATTTTATATGAACAAAACAGTCTTTTTGAGAAATAAAAGTCAAAGCAGTAGAAATATACTGTAAATGACTTCTCATTTCCTTTACAGCAAATGAGATGACTGCATCAAGCTTTTGCCTCTACAAGCTAATGATGAAGAATTTCAAATCTGAAGAAGTAGAAACTTAGTAAATTGCTCCGCTTTTCAAAAGGTAATCTAATGGCTTACTTTAAGTGCTACATATTTCTAGAACATATTCTGCATTTAGACATGTTAACAAAAGGCTTTTTCAAAATATCACGAAAGACTATGAGTCAAAGAGTAGCAGCAAATGACTGCATTAAAATGTTTTATGTCTATAAATTTATGTAATGTATATATATAAAGGAAAGGTTCCTAATTTTGCAACAACGTTTCTCAGAAATCTCACCAGTAGGGCTTTAATTACAAATTAATCTGGGGATTAGTGTCAGTGGACAAAGGTGCCAAGTATTGACACTGGAAACAAGGAGTTCTGGGAACTGGCTAGAAAATGCTATCAACTATACAACAGGGCTTACATTACACAGAAGAGCATTCATTAACTGAAACCTGTTACATAATGAAGATATAGTCAGGAATCAAAACAAAACTCAGGCCCAGAGAACAGTGAAATTTCAGCAAAGAAGAATAGAGACTTTCTAATGGTAAATGTAGTCAGGTACAAAATAGGATATATAGAAGAGGAGGCTGGAAGAAGCATTTTGAAGTCACCACATCAAAACAAAGCATATATGTGCAATTATGCATCATTTAACGATGGGGATACGTCTGAGAAATGTGTTGTTAGGTGATTTCATCATTGTGCAAACATCATAGAGTACTTACACAAACCTAGGTGGTGTAGCCNNN | benign | 148,908 |
A genetic variant on chromosome 9, position 108908358, affects the gene ELP1 (elongator acetyltransferase complex subunit 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_dysautonomia', 'Medulloblastoma'] | TGAGCTGTCCATGCTCTTCATCCATCTCAGAAGAAGCTGCAGTCAAATGGTGAATGACAGACCGGGGGCTGAACTCACTGTGGCTTACAGCCAGGAAGACGTCTTCTTCAATCCAAGTGAGAAGGCCTAGTTTCAGCGGGTTTACATCTTGATCTTCATTATTCTCAAACTGGATTCTATTGTAAATATTGAAGAATATCCAAGACATGAATAAAACTTAAAAACCACTGAGACGTTCCTGGATGAAGGAAGACTGAAGCATCTTGTATACAGTCCACTCCTAATTATTTGGAGGGACAAAACCTGAGATACTACCAAATACTACAAAATCTAAAATTAATCTTTGTCTGGCTTAAGAATACGTTTTTATATTTTCCCTAAATTTCTCATACCCTGAAATCTTTAAATTTGAAGAGAACACTTGAGGAAACTGACTACACAAGAAAATTACCAGCCCTAGTCCCTACACTAATGAACCCCAGAGCTTTTCCACTGCCATGACTTACCAGCATTCAAACCAGGCTCTGGCAGGTATGTCACTTGCAGTAGAATGGGTCCTTTCCTAAGCACCTCACATTAAACTGACTGACTAGCTTGAGAGATGGTCTCCATGTCTCTAATGCATTCTTTGGTAGCATTTATACACCTGACCAGCGCACTGTTCTTGTCACCTCACGTAGGAACCGACAATGGCTACTTCCTGCCTTTTAGATCAGGTGGCAAATCCGCAGCTCCCACTGAAGAAGTTGGTCACTAGCCTGATCTTCCTCCTCAAACATCTCTCCCCGGACTCAGGCTCTCCATTGCATTCACATAGAGTATCCCATGGAGGATCAGTCCCACCTCTGGTTTTCACTGACACTTTCTTCCCCACCAGACCCAATGTTCCCAATTCTTTGCCAACCCCAAACCTATCCCTTCCCCAAGATCACGATGAGTACTCATGTCTTCTGTGAAATCTCAGACGAATTGGCATTATCCCCATCAATTTTTTTTAAATGAAACTATATTCTAAACTGCCTCATACTTTCTAATTTGTCCTCTATCTCTACTCTAGTGGTTTCAAGTCTATGAAGTGAAATAATGCATGTAAATGCTCTTTAAAAACTACTAAGCATTATACAGGCAGCCTCAAAATCATACAGAGGTTGAACACTTCTGCTGTATTTATTAAATATATCACATATATTTAAGAAACATTATTTATTAAATTCTGCTATTTGTTGTACTCAGTTAATTATTTCTATTAATCTAACAATAAATGTTCCCTGGAGGCAGAGTAGTTTAGTAATGAAGAACATGGACTTATCAAACAGAATAGAATCAAACCCTAAATTCTCTAGTTACCAGGTCCATGACCTTGGGTAAGTTACCTAACCTCTACACTTTGTTTTTTTAATCTGTAAGTACTCAATAAGTGGTACTTTTTAAAAAAGTTCTCTCACAGATGTGGCATTATAATTTGGTTTCTAGGTCATTTTGCAAATGCCTATAGTGTACCTGAGGTATTCAATAACATCCAATTGTTTACAATACTGTTTCAATGGAAGAATGCATTCTGATTTCCATCCCAGGAGCCTCAAAGCACAGCACCCAGAAGTTCTAGATTCTGGGATGGAGCAAAGACAGAGGCTGCATTAGGTCATCCATGTTAACAACCCATACATCCCCATTTATGTAAGAGAATGCAGCTCCGCCTTATCATTGTCATCTCCATCTTTCCCACATGATTTTTCCTGGAGAACCAAGCGCTATTGGGAGTAGGTCCTAGGCTGGCTTACAACTCATGCTCTCCTGCTACCTATCAAATTATATGGCATTCAGACAAACTACATGACTGGCTTCTCCAATCAGATCCGAAAGTCAGGGCCTGGGTGTTGTCTTTATTTCTTGTTCCACTCAGCAACAGGCATAGAACTGTTATCAGATGGCTGAATTTAGGACTGCATGCTGGCTGATTCTGTTCCCAGAAGCCCAAGATAATTAAGAACCTACTTGTATCTCTTTTCCAAATGAGGAGTTCTAAGGCAAACTTTAAATCCACTTCCACCCACAGCTCCCAGTTTCACTGTAGGGTCAGCACTTGGACAATCACCTGGAAAACAAAAATGCAAATATTATCATCGTAAATTATAAGATTTCACCTAATACTAAGGGGATGGTGTCTGCAATTAATGAGTTCTAGAAGGCAAACAGCAATCTAGAAAATAATCACATCTCAACCTCCTTAAAATTTCTGCTTTCCTCTTAAGAACACATCAGTCATAATCTTCCCTGACAAAGGCCACATCTCAGCAAGACCAGGTGAAGGGGCTACCCTCTCAGCCCAGTGCTGTGGACAATTTCCTCCACTGTCTTCAACCACCTCTCAATATCCTCAAATTCTCCAAAGTCCTAAGCACCTGCTTAAAAGACATTTTCTTTCTATTCTTCATCCAGTTTATTCACTGCACAGCAGCCAATGCAAGCCTTTAAAAAATTCAGCCAGAACACTGCACTCCTCTGTTCTAAGCCCTCTGGTGGCTCCTATCTCACTCGGAGTAAAAGCCGCAAGGCCCTACAAGAGCAGATTCCCATCACCACTCTGAACTCACCCACCACCTTCCCCTCCTTTGCTCTGCTGCAGCCACCCTGGCCTCCTGGCTATTTCCTAAACACAACAGGCACTTCGGTGGTTGCTTTTTACTCTGCTTGGAACGCTCTTTCTTTTTTCTTCTTTGCCTTCAAGCATAGAATGCTTGGGACGCTCTTACCCCAGATGTCTGCGTGGCTCCCACTGTGATTCTCACCAGGTCTCTGCTTCAATGTCACCTTCACAGAGAGGCCTTTGGGATCACACTAAATAGGAAAGACACCTTCCCCCTGTAAACCCTTATCCTTAAGCTCTCCCTACCCCTTATTTTGCTTAATTTTTCTCCACAGCACTTGCCATCTGATAGATCATATTTAATTGATATCTTTTGTCTACACCTAGAACAACAAGTTGTAGACAAAGTACAACTAGTTTTCTAGTACAACAAGCCAAGTACTAGAAAAAAGCCTGGCATATAATAAACAATCAAGAAGCAATGAGGGGGAAAAAGGAGTGATACTCAGGATGCATCAAACACCATCTTTGAAAACTTTGGCAACGAACTTGTCTCCACACCACTCAAATGTCTACCACTTGACTCCAAGTTCTTAATTTCCCTTCCACTTGGGCACGGAGCCCTGACCTGTTCCAGTCCAAGATCTCTTTTTCCAGATTCTCTTATATCCAAACTCTCCCCAGTGGGTTCTTTAACTTCTCAGGGTTTTTACTTCATGGATTTGTTATGATCTTTCTCTTCTTTCCATTTCTATGAACACTGCTCTGGCTCAAGCTCTTGCTAGCTCCTGCCTGGACACTTGACAACAGCTTCTCCTAACTAGAATCTCTGCCTCCAGGTGCCCCTGACCTATGGCCAACCCCACATATTGATGCCGAACAATCTTTCAAAAGTGGAGCTCTCAACCTGTCCTATCTCATCACAGGGAGTTTTCTCTCAAGTAAAATGAATGCAGGGTGGTACAGGGTTTCATTCTGAGGAGATAAAAACGTCCTAAAATTGATCGTGGTGATGGCTGTACAACTCTGTGAATATACATATATATACATATACATATGTATATATATTCATACACACACATATAAACCATTGAATTGTACACTTTAAATAGATGAATGATATAAAGCTATTTTTTAAGTGAATGCAGAACAAAACATACCATACATCATAAAGTGACATATAAACTCATTAGCATCATACAGTTAAGTCCCACAAAAGCTTACATCTGATTCTTTTTGCCTTGACAATGAACATATTTGCACTTTTTTTTAAAGCTATTTTGAAAAGTTTAAGGAGGACTGTAACAGCATTTTACACACTGAAACTATAATCAGAGAAACTGGTGATACATCCAGATAGGATCCATGTACACAGTGGGCTGCTGACTTAACAGAAAAGCTGATATGAAAGTAAGGACTTCCCATTTAAATTAATTAATTTTGATTATTCTCTCTTGGCAACTATCTAGGCTTTTTCTGAGAATTCAAAAGATATTTGAAAACAAGGCT | TGAGCTGTCCATGCTCTTCATCCATCTCAGAAGAAGCTGCAGTCAAATGGTGAATGACAGACCGGGGGCTGAACTCACTGTGGCTTACAGCCAGGAAGACGTCTTCTTCAATCCAAGTGAGAAGGCCTAGTTTCAGCGGGTTTACATCTTGATCTTCATTATTCTCAAACTGGATTCTATTGTAAATATTGAAGAATATCCAAGACATGAATAAAACTTAAAAACCACTGAGACGTTCCTGGATGAAGGAAGACTGAAGCATCTTGTATACAGTCCACTCCTAATTATTTGGAGGGACAAAACCTGAGATACTACCAAATACTACAAAATCTAAAATTAATCTTTGTCTGGCTTAAGAATACGTTTTTATATTTTCCCTAAATTTCTCATACCCTGAAATCTTTAAATTTGAAGAGAACACTTGAGGAAACTGACTACACAAGAAAATTACCAGCCCTAGTCCCTACACTAATGAACCCCAGAGCTTTTCCACTGCCATGACTTACCAGCATTCAAACCAGGCTCTGGCAGGTATGTCACTTGCAGTAGAATGGGTCCTTTCCTAAGCACCTCACATTAAACTGACTGACTAGCTTGAGAGATGGTCTCCATGTCTCTAATGCATTCTTTGGTAGCATTTATACACCTGACCAGCGCACTGTTCTTGTCACCTCACGTAGGAACCGACAATGGCTACTTCCTGCCTTTTAGATCAGGTGGCAAATCCGCAGCTCCCACTGAAGAAGTTGGTCACTAGCCTGATCTTCCTCCTCAAACATCTCTCCCCGGACTCAGGCTCTCCATTGCATTCACATAGAGTATCCCATGGAGGATCAGTCCCACCTCTGGTTTTCACTGACACTTTCTTCCCCACCAGACCCAATGTTCCCAATTCTTTGCCAACCCCAAACCTATCCCTTCCCCAAGATCACGATGAGTACTCATGTCTTCTGTGAAATCTCAGACGAATTGGCATTATCCCCATCAATTTTTTTTAAATGAAACTATATTCTAAACTGCCTCATACTTTCTAATTTGTCCTCTATCTCTACTCTAGTGGTTTCAAGTCTATGAAGTGAAATAATGCATGTAAATGCTCTTTAAAAACTACTAAGCATTATACAGGCAGCCTCAAAATCATACAGAGGTTGAACACTTCTGCTGTATTTATTAAATATATCACATATATTTAAGAAACATTATTTATTAAATTCTGCTATTTGTTGTACTCAGTTAATTATTTCTATTAATCTAACAATAAATGTTCCCTGGAGGCAGAGTAGTTTAGTAATGAAGAACATGGACTTATCAAACAGAATAGAATCAAACCCTAAATTCTCTAGTTACCAGGTCCATGACCTTGGGTAAGTTACCTAACCTCTACACTTTGTTTTTTTAATCTGTAAGTACTCAATAAGTGGTACTTTTTAAAAAAGTTCTCTCACAGATGTGGCATTATAATTTGGTTTCTAGGTCATTTTGCAAATGCCTATAGTGTACCTGAGGTATTCAATAACATCCAATTGTTTACAATACTGTTTCAATGGAAGAATGCATTCTGATTTCCATCCCAGGAGCCTCAAAGCACAGCACCCAGAAGTTCTAGATTCTGGGATGGAGCAAAGACAGAGGCTGCATTAGGTCATCCATGTTAACAACCCATACATCCCCATTTATGTAAGAGAATGCAGCTCCGCCTTATCATTGTCATCTCCATCTTTCCCACATGATTTTTCCTGGAGAACCAAGCGCTATTGGGAGTAGGTCCTAGGCTGGCTTACAACTCATGCTCTCCTGCTACCTATCAAATTATATGGCATTCAGACAAACTACATGACTGGCTTCTCCAATCAGATCCGAAAGTCAGGGCCTGGGTGTTGTCTTTATTTCTTGTTCCACTCAGCAACAGGCATAGAACTGTTATCAGATGGCTGAATTTAGGACTGCATGCTGGCTGATTCTGTTCCCAGAAGCCCAAGATAATTAAGAACCTACTTGTATCTCTTTTCCAAATGAGGAGTTCTAAGGCAAACTTTAAATCCACTTCCACCACAGCTCCCAGTTTCACTGTAGGGTCAGCACTTGGACAATCACCTGGAAAACAAAAATGCAAATATTATCATCGTAAATTATAAGATTTCACCTAATACTAAGGGGATGGTGTCTGCAATTAATGAGTTCTAGAAGGCAAACAGCAATCTAGAAAATAATCACATCTCAACCTCCTTAAAATTTCTGCTTTCCTCTTAAGAACACATCAGTCATAATCTTCCCTGACAAAGGCCACATCTCAGCAAGACCAGGTGAAGGGGCTACCCTCTCAGCCCAGTGCTGTGGACAATTTCCTCCACTGTCTTCAACCACCTCTCAATATCCTCAAATTCTCCAAAGTCCTAAGCACCTGCTTAAAAGACATTTTCTTTCTATTCTTCATCCAGTTTATTCACTGCACAGCAGCCAATGCAAGCCTTTAAAAAATTCAGCCAGAACACTGCACTCCTCTGTTCTAAGCCCTCTGGTGGCTCCTATCTCACTCGGAGTAAAAGCCGCAAGGCCCTACAAGAGCAGATTCCCATCACCACTCTGAACTCACCCACCACCTTCCCCTCCTTTGCTCTGCTGCAGCCACCCTGGCCTCCTGGCTATTTCCTAAACACAACAGGCACTTCGGTGGTTGCTTTTTACTCTGCTTGGAACGCTCTTTCTTTTTTCTTCTTTGCCTTCAAGCATAGAATGCTTGGGACGCTCTTACCCCAGATGTCTGCGTGGCTCCCACTGTGATTCTCACCAGGTCTCTGCTTCAATGTCACCTTCACAGAGAGGCCTTTGGGATCACACTAAATAGGAAAGACACCTTCCCCCTGTAAACCCTTATCCTTAAGCTCTCCCTACCCCTTATTTTGCTTAATTTTTCTCCACAGCACTTGCCATCTGATAGATCATATTTAATTGATATCTTTTGTCTACACCTAGAACAACAAGTTGTAGACAAAGTACAACTAGTTTTCTAGTACAACAAGCCAAGTACTAGAAAAAAGCCTGGCATATAATAAACAATCAAGAAGCAATGAGGGGGAAAAAGGAGTGATACTCAGGATGCATCAAACACCATCTTTGAAAACTTTGGCAACGAACTTGTCTCCACACCACTCAAATGTCTACCACTTGACTCCAAGTTCTTAATTTCCCTTCCACTTGGGCACGGAGCCCTGACCTGTTCCAGTCCAAGATCTCTTTTTCCAGATTCTCTTATATCCAAACTCTCCCCAGTGGGTTCTTTAACTTCTCAGGGTTTTTACTTCATGGATTTGTTATGATCTTTCTCTTCTTTCCATTTCTATGAACACTGCTCTGGCTCAAGCTCTTGCTAGCTCCTGCCTGGACACTTGACAACAGCTTCTCCTAACTAGAATCTCTGCCTCCAGGTGCCCCTGACCTATGGCCAACCCCACATATTGATGCCGAACAATCTTTCAAAAGTGGAGCTCTCAACCTGTCCTATCTCATCACAGGGAGTTTTCTCTCAAGTAAAATGAATGCAGGGTGGTACAGGGTTTCATTCTGAGGAGATAAAAACGTCCTAAAATTGATCGTGGTGATGGCTGTACAACTCTGTGAATATACATATATATACATATACATATGTATATATATTCATACACACACATATAAACCATTGAATTGTACACTTTAAATAGATGAATGATATAAAGCTATTTTTTAAGTGAATGCAGAACAAAACATACCATACATCATAAAGTGACATATAAACTCATTAGCATCATACAGTTAAGTCCCACAAAAGCTTACATCTGATTCTTTTTGCCTTGACAATGAACATATTTGCACTTTTTTTTAAAGCTATTTTGAAAAGTTTAAGGAGGACTGTAACAGCATTTTACACACTGAAACTATAATCAGAGAAACTGGTGATACATCCAGATAGGATCCATGTACACAGTGGGCTGCTGACTTAACAGAAAAGCTGATATGAAAGTAAGGACTTCCCATTTAAATTAATTAATTTTGATTATTCTCTCTTGGCAACTATCTAGGCTTTTTCTGAGAATTCAAAAGATATTTGAAAACAAGGCTN | pathogenic | 148,922 |
Is the genetic variant on chromosome 9, position 108911100, gene ELP1 (elongator acetyltransferase complex subunit 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Medulloblastoma'] | GACGCTCTTACCCCAGATGTCTGCGTGGCTCCCACTGTGATTCTCACCAGGTCTCTGCTTCAATGTCACCTTCACAGAGAGGCCTTTGGGATCACACTAAATAGGAAAGACACCTTCCCCCTGTAAACCCTTATCCTTAAGCTCTCCCTACCCCTTATTTTGCTTAATTTTTCTCCACAGCACTTGCCATCTGATAGATCATATTTAATTGATATCTTTTGTCTACACCTAGAACAACAAGTTGTAGACAAAGTACAACTAGTTTTCTAGTACAACAAGCCAAGTACTAGAAAAAAGCCTGGCATATAATAAACAATCAAGAAGCAATGAGGGGGAAAAAGGAGTGATACTCAGGATGCATCAAACACCATCTTTGAAAACTTTGGCAACGAACTTGTCTCCACACCACTCAAATGTCTACCACTTGACTCCAAGTTCTTAATTTCCCTTCCACTTGGGCACGGAGCCCTGACCTGTTCCAGTCCAAGATCTCTTTTTCCAGATTCTCTTATATCCAAACTCTCCCCAGTGGGTTCTTTAACTTCTCAGGGTTTTTACTTCATGGATTTGTTATGATCTTTCTCTTCTTTCCATTTCTATGAACACTGCTCTGGCTCAAGCTCTTGCTAGCTCCTGCCTGGACACTTGACAACAGCTTCTCCTAACTAGAATCTCTGCCTCCAGGTGCCCCTGACCTATGGCCAACCCCACATATTGATGCCGAACAATCTTTCAAAAGTGGAGCTCTCAACCTGTCCTATCTCATCACAGGGAGTTTTCTCTCAAGTAAAATGAATGCAGGGTGGTACAGGGTTTCATTCTGAGGAGATAAAAACGTCCTAAAATTGATCGTGGTGATGGCTGTACAACTCTGTGAATATACATATATATACATATACATATGTATATATATTCATACACACACATATAAACCATTGAATTGTACACTTTAAATAGATGAATGATATAAAGCTATTTTTTAAGTGAATGCAGAACAAAACATACCATACATCATAAAGTGACATATAAACTCATTAGCATCATACAGTTAAGTCCCACAAAAGCTTACATCTGATTCTTTTTGCCTTGACAATGAACATATTTGCACTTTTTTTTAAAGCTATTTTGAAAAGTTTAAGGAGGACTGTAACAGCATTTTACACACTGAAACTATAATCAGAGAAACTGGTGATACATCCAGATAGGATCCATGTACACAGTGGGCTGCTGACTTAACAGAAAAGCTGATATGAAAGTAAGGACTTCCCATTTAAATTAATTAATTTTGATTATTCTCTCTTGGCAACTATCTAGGCTTTTTCTGAGAATTCAAAAGATATTTGAAAACAAGGCTAACACTGCCATATGCCAGCAGAATTTATGACATAACCACAGAACTCACAAGTAAAAACAAATTTCAGATTCTCCAGCACATCAGGAAAGTAATGAAGAACTGACAGCAATGGGGCTGTGGCAGGACAAGTGGATTAGGAGCTAGAACACCTGTGTTGAGGTCCTTGTCCATTCTTGTTCAAACAAATTACAAAACCTCTGACACTGTGTTCCCTCATCTACAAAAGAGGAAAACCCCATCTCTGACACAGCTCCTAGGAGGGATGAGATCAACTGAAAATATGTGTAAAGGCTATGAAAAGAGTAAAACATGTTAACAATGTATAACATACTATGTTATTTCCAGAGTCCAATGTTATTCTTAAATAACTGACTCTTCAAGTCAGTAAGGGAAAAGGAATGGCTCGTACAAACCAGTATAGGATTAAAAAAAAAAAAAACAAAAACCCAAGGCAATTAAATATCATAATGATAATGATATCAACTGCAGACTTAAAAATTTTGAGAAACACTAGACCTATGGCAACACCAAACTATAATTTGCTTTTATGTAGGAGTAGAAGGGACTTGATTCAGAACATCTTGGCAAAAGTTTTATAACATACCACATTTATAAACAGAAATCTGGTTACTGGCATCTAGAACAGCAAGGTCATTACTCTTTTGAGGGTGTGCTAAGAATGTGACTTGATTCACAGGGTGTGGGAACAGCAGTTGGTAGGTGCACATGGGAGGCGGAACCACAGTCTGCCGGAAGACTGTCACCAACACCCTGTCTGCAGTGAAAAAGAAAGAAGAGGATTAGACCTAGGGATATTCAATTTGTAAGATAAGCCATCTGAACATCACAGTATATCTAAACAATAATGGCAATTCACAAAAAAATAACTTTCAATGTTTTTCTCAGGAACAAGTCTAAAAACAGTGTGGGATGGGGAAATGTCATGGGTTCTGTCCATAATTGGCTATTGTCACCTCTAGGCCTAGGGGAGTCCATCTCAGTACCTGGAGTTTCAGGTGCCAGGGACTAAGGCAAAAAGGCCAAGAGGTCAGACCTCTAGCTTTAAACCTGGGCCTGCAACCAAGCCACACTAAACCAAGGGAATTAATACTTTCAAAATCCTTAAAGCACTTTCCTATGTGTGGATTTGGTAATAACGCAGATCTGATTAAGTTCTCTATATAGAATACATGACTATAAAATCAGTATTATGTAGAATATTACACAGAATATGAATTAATATACCACCTCACATTACAATCTTAGAAGCCAGTGCTCCCTTTCATATCAGCAATGAAACTATTCATTAAGGTGACTACTTCACTCTTCAGTCTTGCCCTTCCCACCCCACCCCCTAAAAAAACCTTCTACCTCATTATAAAATATAAACCTAATCTTCATATTAGGCAAACGTTTATGCATGAACTGAACATACTGGAGAGGTATATATCAGCAAGCATTTGTATCAGGAAACAAAGCAACACAAGTGGGGTGGTATAAGGGTCAATTATAAATCTGTGTCAGGGCAAACAGATAAAGCTAACACACCCAATCCCACAAGACTGTACTGTTGTCATCCTCTCTACCTAGAGTCAAAGTTTTCAGTGTCTTCAAAGGCCAGGCAAGTAAACGTGTGAAGGCCACAGATGCAGTATAACAGGAAACTGGTGGGGGAGGGGGGACAATGGTTCTCAGGAGAGAACATACCCCACCTTATATCCCATTCAATAAAAAAACAAGTAACCCAAACAGCCAAAACAAATAAAGATTCCCCACTGTTCCAGTCAAACCACCACATCTGCAGGCCCTAGGCTCAGGACCCCTTGCAGGCTCATGGACACACTTCCCAGGAGCTTACTTCCATCAATGACAGCCACATTGGACAAGTCACTTGAATTATCTCCCACGCTCCGGTCAGTCGTCCAGTGCCAATCATAGGCGAGGTAATGCCAGCCCTGACAGAGAACATGCAGCCGGTATGGGGTCACAGGGTCCCACATCAGAGACACAATCTTGCTCTTCCCACAGGTGCTGAAGGATAAACTTTGCTTGAGATACCAGTGATAGTTTCCAACAGTCCAGAGCTGAACTGCAAGGGAAAATGAAAAGAAGGCCGTTAGAGGCTGGGAAGCAGACTTCATCCCACTTGCCAGAGGGGTTCAAGGGCAATCTTTTCTTTTTCAAAGGACCCTTCCTGCTCAGCCTCGTCTCTAAAATAAGAACAATAATAACTGCCAAAAAATAGCTTTCCATGCAGATAAAATATCAAGAATCAATAAGGTCAGAAATATATGTTTATTTTCTTGTTTTTTTTCTATTTTTAACTTTTATTCATATGTTTATTTTCGTTTTTTTTTTTTTTTTATTGACACAGAGTCTCGCTCTGCCGGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCATCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGGCTAATTTTTTTTTTTTGTATTTTTAGTAGAAACATGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCCTGAGCCACCGTGCCTGGCCCACATGTTTATTTTCAACTTTACTTCCAAACTTTATGATCACAATGGAAGGCTACCAGGAAAAAGCATTCTTTTAGTGGGTTTTCTCA | GACGCTCTTACCCCAGATGTCTGCGTGGCTCCCACTGTGATTCTCACCAGGTCTCTGCTTCAATGTCACCTTCACAGAGAGGCCTTTGGGATCACACTAAATAGGAAAGACACCTTCCCCCTGTAAACCCTTATCCTTAAGCTCTCCCTACCCCTTATTTTGCTTAATTTTTCTCCACAGCACTTGCCATCTGATAGATCATATTTAATTGATATCTTTTGTCTACACCTAGAACAACAAGTTGTAGACAAAGTACAACTAGTTTTCTAGTACAACAAGCCAAGTACTAGAAAAAAGCCTGGCATATAATAAACAATCAAGAAGCAATGAGGGGGAAAAAGGAGTGATACTCAGGATGCATCAAACACCATCTTTGAAAACTTTGGCAACGAACTTGTCTCCACACCACTCAAATGTCTACCACTTGACTCCAAGTTCTTAATTTCCCTTCCACTTGGGCACGGAGCCCTGACCTGTTCCAGTCCAAGATCTCTTTTTCCAGATTCTCTTATATCCAAACTCTCCCCAGTGGGTTCTTTAACTTCTCAGGGTTTTTACTTCATGGATTTGTTATGATCTTTCTCTTCTTTCCATTTCTATGAACACTGCTCTGGCTCAAGCTCTTGCTAGCTCCTGCCTGGACACTTGACAACAGCTTCTCCTAACTAGAATCTCTGCCTCCAGGTGCCCCTGACCTATGGCCAACCCCACATATTGATGCCGAACAATCTTTCAAAAGTGGAGCTCTCAACCTGTCCTATCTCATCACAGGGAGTTTTCTCTCAAGTAAAATGAATGCAGGGTGGTACAGGGTTTCATTCTGAGGAGATAAAAACGTCCTAAAATTGATCGTGGTGATGGCTGTACAACTCTGTGAATATACATATATATACATATACATATGTATATATATTCATACACACACATATAAACCATTGAATTGTACACTTTAAATAGATGAATGATATAAAGCTATTTTTTAAGTGAATGCAGAACAAAACATACCATACATCATAAAGTGACATATAAACTCATTAGCATCATACAGTTAAGTCCCACAAAAGCTTACATCTGATTCTTTTTGCCTTGACAATGAACATATTTGCACTTTTTTTTAAAGCTATTTTGAAAAGTTTAAGGAGGACTGTAACAGCATTTTACACACTGAAACTATAATCAGAGAAACTGGTGATACATCCAGATAGGATCCATGTACACAGTGGGCTGCTGACTTAACAGAAAAGCTGATATGAAAGTAAGGACTTCCCATTTAAATTAATTAATTTTGATTATTCTCTCTTGGCAACTATCTAGGCTTTTTCTGAGAATTCAAAAGATATTTGAAAACAAGGCTAACACTGCCATATGCCAGCAGAATTTATGACATAACCACAGAACTCACAAGTAAAAACAAATTTCAGATTCTCCAGCACATCAGGAAAGTAATGAAGAACTGACAGCAATGGGGCTGTGGCAGGACAAGTGGATTAGGAGCTAGAACACCTGTGTTGAGGTCCTTGTCCATTCTTGTTCAAACAAATTACAAAACCTCTGACACTGTGTTCCCTCATCTACAAAAGAGGAAAACCCCATCTCTGACACAGCTCCTAGGAGGGATGAGATCAACTGAAAATATGTGTAAAGGCTATGAAAAGAGTAAAACATGTTAACAATGTATAACATACTATGTTATTTCCAGAGTCCAATGTTATTCTTAAATAACTGACTCTTCAAGTCAGTAAGGGAAAAGGAATGGCTCGTACAAACCAGTATAGGATTAAAAAAAAAAAAAACAAAAACCCAAGGCAATTAAATATCATAATGATAATGATATCAACTGCAGACTTAAAAATTTTGAGAAACACTAGACCTATGGCAACACCAAACTATAATTTGCTTTTATGTAGGAGTAGAAGGGACTTGATTCAGAACATCTTGGCAAAAGTTTTATAACATACCACATTTATAAACAGAAATCTGGTTACTGGCATCTAGAACAGCAAGGTCATTACTCTTTTGAGGGTGTGCTAAGAATGTGACTTGATTCACAAGGGTGTGGGAACAGCAGTTGGTAGGTGCACATGGGAGGCGGAACCACAGTCTGCCGGAAGACTGTCACCAACACCCTGTCTGCAGTGAAAAAGAAAGAAGAGGATTAGACCTAGGGATATTCAATTTGTAAGATAAGCCATCTGAACATCACAGTATATCTAAACAATAATGGCAATTCACAAAAAAATAACTTTCAATGTTTTTCTCAGGAACAAGTCTAAAAACAGTGTGGGATGGGGAAATGTCATGGGTTCTGTCCATAATTGGCTATTGTCACCTCTAGGCCTAGGGGAGTCCATCTCAGTACCTGGAGTTTCAGGTGCCAGGGACTAAGGCAAAAAGGCCAAGAGGTCAGACCTCTAGCTTTAAACCTGGGCCTGCAACCAAGCCACACTAAACCAAGGGAATTAATACTTTCAAAATCCTTAAAGCACTTTCCTATGTGTGGATTTGGTAATAACGCAGATCTGATTAAGTTCTCTATATAGAATACATGACTATAAAATCAGTATTATGTAGAATATTACACAGAATATGAATTAATATACCACCTCACATTACAATCTTAGAAGCCAGTGCTCCCTTTCATATCAGCAATGAAACTATTCATTAAGGTGACTACTTCACTCTTCAGTCTTGCCCTTCCCACCCCACCCCCTAAAAAAACCTTCTACCTCATTATAAAATATAAACCTAATCTTCATATTAGGCAAACGTTTATGCATGAACTGAACATACTGGAGAGGTATATATCAGCAAGCATTTGTATCAGGAAACAAAGCAACACAAGTGGGGTGGTATAAGGGTCAATTATAAATCTGTGTCAGGGCAAACAGATAAAGCTAACACACCCAATCCCACAAGACTGTACTGTTGTCATCCTCTCTACCTAGAGTCAAAGTTTTCAGTGTCTTCAAAGGCCAGGCAAGTAAACGTGTGAAGGCCACAGATGCAGTATAACAGGAAACTGGTGGGGGAGGGGGGACAATGGTTCTCAGGAGAGAACATACCCCACCTTATATCCCATTCAATAAAAAAACAAGTAACCCAAACAGCCAAAACAAATAAAGATTCCCCACTGTTCCAGTCAAACCACCACATCTGCAGGCCCTAGGCTCAGGACCCCTTGCAGGCTCATGGACACACTTCCCAGGAGCTTACTTCCATCAATGACAGCCACATTGGACAAGTCACTTGAATTATCTCCCACGCTCCGGTCAGTCGTCCAGTGCCAATCATAGGCGAGGTAATGCCAGCCCTGACAGAGAACATGCAGCCGGTATGGGGTCACAGGGTCCCACATCAGAGACACAATCTTGCTCTTCCCACAGGTGCTGAAGGATAAACTTTGCTTGAGATACCAGTGATAGTTTCCAACAGTCCAGAGCTGAACTGCAAGGGAAAATGAAAAGAAGGCCGTTAGAGGCTGGGAAGCAGACTTCATCCCACTTGCCAGAGGGGTTCAAGGGCAATCTTTTCTTTTTCAAAGGACCCTTCCTGCTCAGCCTCGTCTCTAAAATAAGAACAATAATAACTGCCAAAAAATAGCTTTCCATGCAGATAAAATATCAAGAATCAATAAGGTCAGAAATATATGTTTATTTTCTTGTTTTTTTTCTATTTTTAACTTTTATTCATATGTTTATTTTCGTTTTTTTTTTTTTTTTATTGACACAGAGTCTCGCTCTGCCGGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCATCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGGCTAATTTTTTTTTTTTGTATTTTTAGTAGAAACATGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCCTGAGCCACCGTGCCTGGCCCACATGTTTATTTTCAACTTTACTTCCAAACTTTATGATCACAATGGAAGGCTACCAGGAAAAAGCATTCTTTTAGTGGGTTTTCTC | pathogenic | 148,927 |
Benign or pathogenic: chromosome 9, position 108912298, gene ELP1 (elongator acetyltransferase complex subunit 1) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_dysautonomia', 'Medulloblastoma'] | CAGATAGGATCCATGTACACAGTGGGCTGCTGACTTAACAGAAAAGCTGATATGAAAGTAAGGACTTCCCATTTAAATTAATTAATTTTGATTATTCTCTCTTGGCAACTATCTAGGCTTTTTCTGAGAATTCAAAAGATATTTGAAAACAAGGCTAACACTGCCATATGCCAGCAGAATTTATGACATAACCACAGAACTCACAAGTAAAAACAAATTTCAGATTCTCCAGCACATCAGGAAAGTAATGAAGAACTGACAGCAATGGGGCTGTGGCAGGACAAGTGGATTAGGAGCTAGAACACCTGTGTTGAGGTCCTTGTCCATTCTTGTTCAAACAAATTACAAAACCTCTGACACTGTGTTCCCTCATCTACAAAAGAGGAAAACCCCATCTCTGACACAGCTCCTAGGAGGGATGAGATCAACTGAAAATATGTGTAAAGGCTATGAAAAGAGTAAAACATGTTAACAATGTATAACATACTATGTTATTTCCAGAGTCCAATGTTATTCTTAAATAACTGACTCTTCAAGTCAGTAAGGGAAAAGGAATGGCTCGTACAAACCAGTATAGGATTAAAAAAAAAAAAAACAAAAACCCAAGGCAATTAAATATCATAATGATAATGATATCAACTGCAGACTTAAAAATTTTGAGAAACACTAGACCTATGGCAACACCAAACTATAATTTGCTTTTATGTAGGAGTAGAAGGGACTTGATTCAGAACATCTTGGCAAAAGTTTTATAACATACCACATTTATAAACAGAAATCTGGTTACTGGCATCTAGAACAGCAAGGTCATTACTCTTTTGAGGGTGTGCTAAGAATGTGACTTGATTCACAGGGTGTGGGAACAGCAGTTGGTAGGTGCACATGGGAGGCGGAACCACAGTCTGCCGGAAGACTGTCACCAACACCCTGTCTGCAGTGAAAAAGAAAGAAGAGGATTAGACCTAGGGATATTCAATTTGTAAGATAAGCCATCTGAACATCACAGTATATCTAAACAATAATGGCAATTCACAAAAAAATAACTTTCAATGTTTTTCTCAGGAACAAGTCTAAAAACAGTGTGGGATGGGGAAATGTCATGGGTTCTGTCCATAATTGGCTATTGTCACCTCTAGGCCTAGGGGAGTCCATCTCAGTACCTGGAGTTTCAGGTGCCAGGGACTAAGGCAAAAAGGCCAAGAGGTCAGACCTCTAGCTTTAAACCTGGGCCTGCAACCAAGCCACACTAAACCAAGGGAATTAATACTTTCAAAATCCTTAAAGCACTTTCCTATGTGTGGATTTGGTAATAACGCAGATCTGATTAAGTTCTCTATATAGAATACATGACTATAAAATCAGTATTATGTAGAATATTACACAGAATATGAATTAATATACCACCTCACATTACAATCTTAGAAGCCAGTGCTCCCTTTCATATCAGCAATGAAACTATTCATTAAGGTGACTACTTCACTCTTCAGTCTTGCCCTTCCCACCCCACCCCCTAAAAAAACCTTCTACCTCATTATAAAATATAAACCTAATCTTCATATTAGGCAAACGTTTATGCATGAACTGAACATACTGGAGAGGTATATATCAGCAAGCATTTGTATCAGGAAACAAAGCAACACAAGTGGGGTGGTATAAGGGTCAATTATAAATCTGTGTCAGGGCAAACAGATAAAGCTAACACACCCAATCCCACAAGACTGTACTGTTGTCATCCTCTCTACCTAGAGTCAAAGTTTTCAGTGTCTTCAAAGGCCAGGCAAGTAAACGTGTGAAGGCCACAGATGCAGTATAACAGGAAACTGGTGGGGGAGGGGGGACAATGGTTCTCAGGAGAGAACATACCCCACCTTATATCCCATTCAATAAAAAAACAAGTAACCCAAACAGCCAAAACAAATAAAGATTCCCCACTGTTCCAGTCAAACCACCACATCTGCAGGCCCTAGGCTCAGGACCCCTTGCAGGCTCATGGACACACTTCCCAGGAGCTTACTTCCATCAATGACAGCCACATTGGACAAGTCACTTGAATTATCTCCCACGCTCCGGTCAGTCGTCCAGTGCCAATCATAGGCGAGGTAATGCCAGCCCTGACAGAGAACATGCAGCCGGTATGGGGTCACAGGGTCCCACATCAGAGACACAATCTTGCTCTTCCCACAGGTGCTGAAGGATAAACTTTGCTTGAGATACCAGTGATAGTTTCCAACAGTCCAGAGCTGAACTGCAAGGGAAAATGAAAAGAAGGCCGTTAGAGGCTGGGAAGCAGACTTCATCCCACTTGCCAGAGGGGTTCAAGGGCAATCTTTTCTTTTTCAAAGGACCCTTCCTGCTCAGCCTCGTCTCTAAAATAAGAACAATAATAACTGCCAAAAAATAGCTTTCCATGCAGATAAAATATCAAGAATCAATAAGGTCAGAAATATATGTTTATTTTCTTGTTTTTTTTCTATTTTTAACTTTTATTCATATGTTTATTTTCGTTTTTTTTTTTTTTTTATTGACACAGAGTCTCGCTCTGCCGGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCATCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGGCTAATTTTTTTTTTTTGTATTTTTAGTAGAAACATGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCCTGAGCCACCGTGCCTGGCCCACATGTTTATTTTCAACTTTACTTCCAAACTTTATGATCACAATGGAAGGCTACCAGGAAAAAGCATTCTTTTAGTGGGTTTTCTCATGAAGATTTAGGAAGAAGATAACTTGGCAATTAGAGTAAAAGTATTAAAACACTTAATCCAAGATCTAGACTAGCATCATTGTGTTGTATTGGGCTTAAGATGCTTATTTTCTTTCAGGTGCTTTGCAAGCACTTATGTTCAAGGCTATCTGGGTATTAATCCTGATTCAGCTGTCCAAAGAAGATAAGCATGAAATTATCCTTCCAACATCTATTAAGCAAGCAAGACTTAATCATGCCAAAACCAACCTTTACTAAACAGATGACATATAAATTAAGACCTTAGTTATATTAGGAATTATAGTTATATTAAGAAATATTATTTATATTAAGGATTTTCTCAATCTCCTTGCTCACTAATGCTTAACTTAGTGATCACAGCAAACATAACCTAGTCTCAAACCGCATTATTACAACACTTTGAAGTTAGACCACATGCTGATGTTCTGTGAGCACAGATGTTGTGGCTGTTCTTGTGCAATGTGTGTGTGTGTGTATATATATATATACATGTTTTTGAGATGGAGTCTCACTCTGTCACCCATGCTGGAGTGCAGTGGCTCAATCTCGGCTCACGGCAACCTCTGCCTCCCAGTTCAAGCGATTCCCTTGTCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCGCACCACCACGCCGGACTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCATCCTGTGCAATATTTTTATGCTCAGCATATCACAGTGCCATCCCTTGACACACTGGTTAATCGGTGGTTCTCAACTGCGGCTGTTTAAAATCACTTGGGGGCTTTTGGTTTTTAATTAAATACTTACGTATAATCTCCATTCCAACACACTGAACTGAACTCTTGAGATGAAGCCTGAATATCATTTTTTTTCTAAAGGTGTGGCCAGGGTTAAGAACTATTGTGTTGAATGAATAATGAGTTTCTTAACATTGCAGTTAAAAGGGTTCTACTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACGAGATGGAGATCGAGACCATCCTGGCTAACGCGGTGAAACCCTGCCTCTACCAAAAATACAAAAAATTAGCCAGGCTTGGTGGCGGGCGCCTGTAGACCCAGCTACTCGGGAAGCTGAGGCAGGAAAATGGAGTGAACCCGGGAGGCAGAGCTTGCAGTGAC | CAGATAGGATCCATGTACACAGTGGGCTGCTGACTTAACAGAAAAGCTGATATGAAAGTAAGGACTTCCCATTTAAATTAATTAATTTTGATTATTCTCTCTTGGCAACTATCTAGGCTTTTTCTGAGAATTCAAAAGATATTTGAAAACAAGGCTAACACTGCCATATGCCAGCAGAATTTATGACATAACCACAGAACTCACAAGTAAAAACAAATTTCAGATTCTCCAGCACATCAGGAAAGTAATGAAGAACTGACAGCAATGGGGCTGTGGCAGGACAAGTGGATTAGGAGCTAGAACACCTGTGTTGAGGTCCTTGTCCATTCTTGTTCAAACAAATTACAAAACCTCTGACACTGTGTTCCCTCATCTACAAAAGAGGAAAACCCCATCTCTGACACAGCTCCTAGGAGGGATGAGATCAACTGAAAATATGTGTAAAGGCTATGAAAAGAGTAAAACATGTTAACAATGTATAACATACTATGTTATTTCCAGAGTCCAATGTTATTCTTAAATAACTGACTCTTCAAGTCAGTAAGGGAAAAGGAATGGCTCGTACAAACCAGTATAGGATTAAAAAAAAAAAAAACAAAAACCCAAGGCAATTAAATATCATAATGATAATGATATCAACTGCAGACTTAAAAATTTTGAGAAACACTAGACCTATGGCAACACCAAACTATAATTTGCTTTTATGTAGGAGTAGAAGGGACTTGATTCAGAACATCTTGGCAAAAGTTTTATAACATACCACATTTATAAACAGAAATCTGGTTACTGGCATCTAGAACAGCAAGGTCATTACTCTTTTGAGGGTGTGCTAAGAATGTGACTTGATTCACAGGGTGTGGGAACAGCAGTTGGTAGGTGCACATGGGAGGCGGAACCACAGTCTGCCGGAAGACTGTCACCAACACCCTGTCTGCAGTGAAAAAGAAAGAAGAGGATTAGACCTAGGGATATTCAATTTGTAAGATAAGCCATCTGAACATCACAGTATATCTAAACAATAATGGCAATTCACAAAAAAATAACTTTCAATGTTTTTCTCAGGAACAAGTCTAAAAACAGTGTGGGATGGGGAAATGTCATGGGTTCTGTCCATAATTGGCTATTGTCACCTCTAGGCCTAGGGGAGTCCATCTCAGTACCTGGAGTTTCAGGTGCCAGGGACTAAGGCAAAAAGGCCAAGAGGTCAGACCTCTAGCTTTAAACCTGGGCCTGCAACCAAGCCACACTAAACCAAGGGAATTAATACTTTCAAAATCCTTAAAGCACTTTCCTATGTGTGGATTTGGTAATAACGCAGATCTGATTAAGTTCTCTATATAGAATACATGACTATAAAATCAGTATTATGTAGAATATTACACAGAATATGAATTAATATACCACCTCACATTACAATCTTAGAAGCCAGTGCTCCCTTTCATATCAGCAATGAAACTATTCATTAAGGTGACTACTTCACTCTTCAGTCTTGCCCTTCCCACCCCACCCCCTAAAAAAACCTTCTACCTCATTATAAAATATAAACCTAATCTTCATATTAGGCAAACGTTTATGCATGAACTGAACATACTGGAGAGGTATATATCAGCAAGCATTTGTATCAGGAAACAAAGCAACACAAGTGGGGTGGTATAAGGGTCAATTATAAATCTGTGTCAGGGCAAACAGATAAAGCTAACACACCCAATCCCACAAGACTGTACTGTTGTCATCCTCTCTACCTAGAGTCAAAGTTTTCAGTGTCTTCAAAGGCCAGGCAAGTAAACGTGTGAAGGCCACAGATGCAGTATAACAGGAAACTGGTGGGGGAGGGGGGACAATGGTTCTCAGGAGAGAACATACCCCACCTTATATCCCATTCAATAAAAAAACAAGTAACCCAAACAGCCAAAACAAATAAAGATTCCCCACTGTTCCAGTCAAACCACCACATCTGCAGGCCCTAGGCTCAGGACCCCTTGCAGGCTCATGGACACACTTCCCAGGAGCTTACTTCCATCAATGACAGCCACATTGGACAAGTCACTTAATTATCTCCCACGCTCCGGTCAGTCGTCCAGTGCCAATCATAGGCGAGGTAATGCCAGCCCTGACAGAGAACATGCAGCCGGTATGGGGTCACAGGGTCCCACATCAGAGACACAATCTTGCTCTTCCCACAGGTGCTGAAGGATAAACTTTGCTTGAGATACCAGTGATAGTTTCCAACAGTCCAGAGCTGAACTGCAAGGGAAAATGAAAAGAAGGCCGTTAGAGGCTGGGAAGCAGACTTCATCCCACTTGCCAGAGGGGTTCAAGGGCAATCTTTTCTTTTTCAAAGGACCCTTCCTGCTCAGCCTCGTCTCTAAAATAAGAACAATAATAACTGCCAAAAAATAGCTTTCCATGCAGATAAAATATCAAGAATCAATAAGGTCAGAAATATATGTTTATTTTCTTGTTTTTTTTCTATTTTTAACTTTTATTCATATGTTTATTTTCGTTTTTTTTTTTTTTTTATTGACACAGAGTCTCGCTCTGCCGGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCATCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGGCTAATTTTTTTTTTTTGTATTTTTAGTAGAAACATGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCCTGAGCCACCGTGCCTGGCCCACATGTTTATTTTCAACTTTACTTCCAAACTTTATGATCACAATGGAAGGCTACCAGGAAAAAGCATTCTTTTAGTGGGTTTTCTCATGAAGATTTAGGAAGAAGATAACTTGGCAATTAGAGTAAAAGTATTAAAACACTTAATCCAAGATCTAGACTAGCATCATTGTGTTGTATTGGGCTTAAGATGCTTATTTTCTTTCAGGTGCTTTGCAAGCACTTATGTTCAAGGCTATCTGGGTATTAATCCTGATTCAGCTGTCCAAAGAAGATAAGCATGAAATTATCCTTCCAACATCTATTAAGCAAGCAAGACTTAATCATGCCAAAACCAACCTTTACTAAACAGATGACATATAAATTAAGACCTTAGTTATATTAGGAATTATAGTTATATTAAGAAATATTATTTATATTAAGGATTTTCTCAATCTCCTTGCTCACTAATGCTTAACTTAGTGATCACAGCAAACATAACCTAGTCTCAAACCGCATTATTACAACACTTTGAAGTTAGACCACATGCTGATGTTCTGTGAGCACAGATGTTGTGGCTGTTCTTGTGCAATGTGTGTGTGTGTGTATATATATATATACATGTTTTTGAGATGGAGTCTCACTCTGTCACCCATGCTGGAGTGCAGTGGCTCAATCTCGGCTCACGGCAACCTCTGCCTCCCAGTTCAAGCGATTCCCTTGTCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCGCACCACCACGCCGGACTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCATCCTGTGCAATATTTTTATGCTCAGCATATCACAGTGCCATCCCTTGACACACTGGTTAATCGGTGGTTCTCAACTGCGGCTGTTTAAAATCACTTGGGGGCTTTTGGTTTTTAATTAAATACTTACGTATAATCTCCATTCCAACACACTGAACTGAACTCTTGAGATGAAGCCTGAATATCATTTTTTTTCTAAAGGTGTGGCCAGGGTTAAGAACTATTGTGTTGAATGAATAATGAGTTTCTTAACATTGCAGTTAAAAGGGTTCTACTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACGAGATGGAGATCGAGACCATCCTGGCTAACGCGGTGAAACCCTGCCTCTACCAAAAATACAAAAAATTAGCCAGGCTTGGTGGCGGGCGCCTGTAGACCCAGCTACTCGGGAAGCTGAGGCAGGAAAATGGAGTGAACCCGGGAGGCAGAGCTTGCAGTGACN | pathogenic | 148,937 |
Mutation at chromosome 9, position 108916184, within ELP1 (elongator acetyltransferase complex subunit 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACGAGATGGAGATCGAGACCATCCTGGCTAACGCGGTGAAACCCTGCCTCTACCAAAAATACAAAAAATTAGCCAGGCTTGGTGGCGGGCGCCTGTAGACCCAGCTACTCGGGAAGCTGAGGCAGGAAAATGGAGTGAACCCGGGAGGCAGAGCTTGCAGTGACCGAGATCGGGCCACTGCACTCCAGCCTGGGGGAAAGAGAGAGACTCCGTCTCCAAAAAAAAAAAAAAAGGGGGGGGGGGTTCTACTGATTAAAGAGTTTGAAAGCTACTTAGAAAATAATCAAGTAAAAAGATTTATGAACAAAAATGTACCATGCATTGCTGTTTACAATAATGAGAAATGACAAAACTGTAAATGTCTAACAGCATGAGATTTAATGAACGAGAATAAACGAGTATTATACAGCAATTTAAAATGATGCAGATGTATCACACCTACACTTTTTTTTGTTTTGTTTTGAGACAGTCTCACTCTGTCGCCAAGGCTGGAGTGCAGTGGCACGATCTCCATTCACTGCAAGCTCCGCCTCCTCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTACACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCCCCCAAAGTGCATGAGCCACCGCACCTGGCCCATACCTACTACACTTTTAACAAAAACAAGATGATAGCTATACTGAGATATATACATGAAAAACCTAGAAGACAAGAAAATTTGAATAGTGATTATTACGAAGTGGTAGAACTATGAGATTTTTTTCTCATCTTATTTTCTAACATTTTCAAGTATTATTTAATACTTAAAACCACACACTTATACATTTTAAAAGCTATAAAAATATTCTTACTTTTACGCTTAATCTAAATCTTCTTTCACGTCCACAGAATTCCTTTGGTTAGTGTTTTTTCTGTGGTAATACCATGCACTAGGGAAAGCACGTGATGACTTACAACAGTTAATTTTATTGTGTCAAGTTGGCTAGGCTATGGCACCCAGCTATCTGCTAAACTCCAGATGTTGCTGTGAAGGTATTCTGTAGATGTGATTAATATTTATAATCGGCTGACTATAAGGAAAGCAGATTATTCCCCATAATGTGGGAAGGTCCCATTCATTCAGCTGAAGACCTTAAAAGCAAAAACTGAGGCTTCGCAGAAAAGAAGAAATTCTGCCTTAAGGCTGTAACAGAAATCCTCCCTAAGTTTCCAGCCTGCCCTACAGATTTCATACTCAAGACAGCAACATCAATTCTTACCTGAATTTCCAGCCTGCCAACCTGCCCCCACAAATTTCAAACTTGCCATCCCCTACATTAGCTAATCTTTTAAAGTAAATCTATCCACACTCTATTACTCTCTCTCCCTCCCGCCCCACCCTATTCCCTCTCTCACCGTCTCTCTATGTAAGTACAGCTGACCCTTGAACAACACAGGCTTGAACTACACAGGTCCATTTATATTCGTATTTTTTTCAATGAATACAGTCGGCCCTTCATATTGTGGATTCTATACCCGCAACCAAACGCACATCAAAAATATGGTACTTGAGGAATGCAAAACCCAAGTATACAAAAGGCTGACTTTTCATATCTGAGTGTTCTGCAGGGTTGACTGCAGGACTTGACCATGTGTGGATTTTGGCGTCCATGGGCAATCCTAGAACTAATCCCCCGAGAATACTGAGGGACGAATTATATATATGTATTATTTGTTTCTCTAGAGAACCCCAACCAATACATGACTGAAATCCACAATCAATCAAAACCTAACCACCCCCATTTCCACCTACCCACTTCAGCATCTTTGATTCTACTAAGGGACTAAGTAGAAGGGATGAAGGAAATCCCATACCTGTCTACTTTCAACTACGTTTTATGGGGCAGAAGGCTGGGGTACTACAGCTGTCTTACCACAGGTTTTCGGAATGGAGCTTTCTTCTCTCTGAAGGTCTTCCAGCCAGACTGCAAGCACAGAGGAATCTGCATTCCAGAGCAAGTCATTTACCTAGAAGGGAAAAAAGATCTGTCATTGGCTTTCAGTTATGGATTTACTTCCAAATCTTTATAATAGCTGTATTTCCTCTCTCAAATCAAATAATCCCACTACCTGAGCTCATCCCTAGCTGTAAATCACTAACCTACAGAGGCATTAAACAAATCTGTAAAATATGTCATTATTATGTAGAGGACTTAAAAAAAAGAAATACATTATGCTTAAAGATTAAAAGAGACTTAAGAAACTTAACCAAATACAAGGTGACATTTTTAGACAATCAGAGAAACTGGAATATGGACTGGGTGTTAGACAACACAGAGATAAGATGTAATAATAGAATTATGGTTATGTAAAGAAAAATGTCCTTAACTGTTATAAATAAATATTGAAAATATGATTTCTAGAATTAAAACTCCAGGAAATAAAAATATATGTAAGTATATATATGTATAGGCCAAAGAGTTGCGGACCGATGAAAATAGTTTTGCAAAATGTTGGTATCTACTGAAAGTGAGTAATAGTTACATGGGAGTTCATTAAACTCGTCTCTCAACTTAGGATGTTTAAAATTTTACACAGAGATACCATTTGATGTGTTCTCACTTCAGCAAGAATCTTAATGGTATACAAACCACTTAAGATTTAAATGTTATAAATGAAAAACATCTTCATTACTGGAAAAATTATGCTTTTGTCAAAATAAACAATAAAAACTAGCATTTTTATTTCCTACTTCTGTTTTATCTAAGGTGGGGGACAAATGCTATTATTTGCAAAATCACTGGAAAAACAATATTTTATTAAATAAAAATCAGTTCTAGGAAGCCACCATTTTTATTACTATTTACTCTAAAGCTACTATTTATATATCCATATCAAATATAAATCCCCTCTATAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACCTGAGGTCAGGGGTTTGAGACCAGCCTGACCAACACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGCTGTGGTGGCGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAACCGAGATTGCACTATCGCACTCCAACCTGGGCAACAAGAATGAAACTCCATCTCAAAAAAAAAAAAAAAAAATTCCCTCTATAGCTATGGAAAGTCCTCTACATTCGAGGGTGAAACAAACTCAGGCACTTACCTTAACCTCATCTTTAAGGAAGGGAAGTGTAAAGTGTCCATGAAGGAGTCCATTTTTCTCAAAAAACACAATATCCTGCTGGTTGGGTTTATCTTGTGTAGATGCAATCAAACTGCCTGAGGGTCTTAAAGCAAACTCAGAGTGTTACAATATCGAAAGCTCACCTAACTAAAGAATAGATAAAATCCAGAAGAGTTTTTTTTCCAGCAAACATGAATGAATGAATGAACGAATTAATGAATATCTTTATCCAAGGAAGTTTTAAATCCCATGTGTCCCTTGTCTCTCGGCGAGCGGTTCATCCCACTGTGGGACTGTACTTGCCCAGAGGAAAGAGTGCCTTTTCCTGTTTTACACAGAGGCTCCATTTGCCCACAAAACCTTACATATTTACATTGCATTTGGATGACTTTAAAAATAATAAGTTATCTAAACCATTCCAGGTATAATGTCCTAAAAATCAAAATCTATTTCTCCTTCCATTATACAACTTCAGCAAATATTCTATGCTCCAGTAGGTCTTTTTTAAGACTTCACCAAATGTTGAAAACATCTTAATTGCCTCATCTTATTCATATTTGTCTCTAGGGTTTTAATTCAAATACATTTCTCTTCTGCTCTATCATATAATACCATTCAGATACTGGTGGGAAACAAGAGGTCTACATACAACAGATATCACCGA | TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACGAGATGGAGATCGAGACCATCCTGGCTAACGCGGTGAAACCCTGCCTCTACCAAAAATACAAAAAATTAGCCAGGCTTGGTGGCGGGCGCCTGTAGACCCAGCTACTCGGGAAGCTGAGGCAGGAAAATGGAGTGAACCCGGGAGGCAGAGCTTGCAGTGACCGAGATCGGGCCACTGCACTCCAGCCTGGGGGAAAGAGAGAGACTCCGTCTCCAAAAAAAAAAAAAAAGGGGGGGGGGGTTCTACTGATTAAAGAGTTTGAAAGCTACTTAGAAAATAATCAAGTAAAAAGATTTATGAACAAAAATGTACCATGCATTGCTGTTTACAATAATGAGAAATGACAAAACTGTAAATGTCTAACAGCATGAGATTTAATGAACGAGAATAAACGAGTATTATACAGCAATTTAAAATGATGCAGATGTATCACACCTACACTTTTTTTTGTTTTGTTTTGAGACAGTCTCACTCTGTCGCCAAGGCTGGAGTGCAGTGGCACGATCTCCATTCACTGCAAGCTCCGCCTCCTCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTACACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCCCCCAAAGTGCATGAGCCACCGCACCTGGCCCATACCTACTACACTTTTAACAAAAACAAGATGATAGCTATACTGAGATATATACATGAAAAACCTAGAAGACAAGAAAATTTGAATAGTGATTATTACGAAGTGGTAGAACTATGAGATTTTTTTCTCATCTTATTTTCTAACATTTTCAAGTATTATTTAATACTTAAAACCACACACTTATACATTTTAAAAGCTATAAAAATATTCTTACTTTTACGCTTAATCTAAATCTTCTTTCACGTCCACAGAATTCCTTTGGTTAGTGTTTTTTCTGTGGTAATACCATGCACTAGGGAAAGCACGTGATGACTTACAACAGTTAATTTTATTGTGTCAAGTTGGCTAGGCTATGGCACCCAGCTATCTGCTAAACTCCAGATGTTGCTGTGAAGGTATTCTGTAGATGTGATTAATATTTATAATCGGCTGACTATAAGGAAAGCAGATTATTCCCCATAATGTGGGAAGGTCCCATTCATTCAGCTGAAGACCTTAAAAGCAAAAACTGAGGCTTCGCAGAAAAGAAGAAATTCTGCCTTAAGGCTGTAACAGAAATCCTCCCTAAGTTTCCAGCCTGCCCTACAGATTTCATACTCAAGACAGCAACATCAATTCTTACCTGAATTTCCAGCCTGCCAACCTGCCCCCACAAATTTCAAACTTGCCATCCCCTACATTAGCTAATCTTTTAAAGTAAATCTATCCACACTCTATTACTCTCTCTCCCTCCCGCCCCACCCTATTCCCTCTCTCACCGTCTCTCTATGTAAGTACAGCTGACCCTTGAACAACACAGGCTTGAACTACACAGGTCCATTTATATTCGTATTTTTTTCAATGAATACAGTCGGCCCTTCATATTGTGGATTCTATACCCGCAACCAAACGCACATCAAAAATATGGTACTTGAGGAATGCAAAACCCAAGTATACAAAAGGCTGACTTTTCATATCTGAGTGTTCTGCAGGGTTGACTGCAGGACTTGACCATGTGTGGATTTTGGCGTCCATGGGCAATCCTAGAACTAATCCCCCGAGAATACTGAGGGACGAATTATATATATGTATTATTTGTTTCTCTAGAGAACCCCAACCAATACATGACTGAAATCCACAATCAATCAAAACCTAACCACCCCCATTTCCACCTACCCACTTCAGCATCTTTGATTCTACTAAGGGACTAAGTAGAAGGGATGAAGGAAATCCCATACCTGTCTACTTTCAACTACGTTTTATGGGGCAGAAGGCTGATGTACTACAGCTGTCTTACCACAGGTTTTCGGAATGGAGCTTTCTTCTCTCTGAAGGTCTTCCAGCCAGACTGCAAGCACAGAGGAATCTGCATTCCAGAGCAAGTCATTTACCTAGAAGGGAAAAAAGATCTGTCATTGGCTTTCAGTTATGGATTTACTTCCAAATCTTTATAATAGCTGTATTTCCTCTCTCAAATCAAATAATCCCACTACCTGAGCTCATCCCTAGCTGTAAATCACTAACCTACAGAGGCATTAAACAAATCTGTAAAATATGTCATTATTATGTAGAGGACTTAAAAAAAAGAAATACATTATGCTTAAAGATTAAAAGAGACTTAAGAAACTTAACCAAATACAAGGTGACATTTTTAGACAATCAGAGAAACTGGAATATGGACTGGGTGTTAGACAACACAGAGATAAGATGTAATAATAGAATTATGGTTATGTAAAGAAAAATGTCCTTAACTGTTATAAATAAATATTGAAAATATGATTTCTAGAATTAAAACTCCAGGAAATAAAAATATATGTAAGTATATATATGTATAGGCCAAAGAGTTGCGGACCGATGAAAATAGTTTTGCAAAATGTTGGTATCTACTGAAAGTGAGTAATAGTTACATGGGAGTTCATTAAACTCGTCTCTCAACTTAGGATGTTTAAAATTTTACACAGAGATACCATTTGATGTGTTCTCACTTCAGCAAGAATCTTAATGGTATACAAACCACTTAAGATTTAAATGTTATAAATGAAAAACATCTTCATTACTGGAAAAATTATGCTTTTGTCAAAATAAACAATAAAAACTAGCATTTTTATTTCCTACTTCTGTTTTATCTAAGGTGGGGGACAAATGCTATTATTTGCAAAATCACTGGAAAAACAATATTTTATTAAATAAAAATCAGTTCTAGGAAGCCACCATTTTTATTACTATTTACTCTAAAGCTACTATTTATATATCCATATCAAATATAAATCCCCTCTATAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACCTGAGGTCAGGGGTTTGAGACCAGCCTGACCAACACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGCTGTGGTGGCGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAACCGAGATTGCACTATCGCACTCCAACCTGGGCAACAAGAATGAAACTCCATCTCAAAAAAAAAAAAAAAAAATTCCCTCTATAGCTATGGAAAGTCCTCTACATTCGAGGGTGAAACAAACTCAGGCACTTACCTTAACCTCATCTTTAAGGAAGGGAAGTGTAAAGTGTCCATGAAGGAGTCCATTTTTCTCAAAAAACACAATATCCTGCTGGTTGGGTTTATCTTGTGTAGATGCAATCAAACTGCCTGAGGGTCTTAAAGCAAACTCAGAGTGTTACAATATCGAAAGCTCACCTAACTAAAGAATAGATAAAATCCAGAAGAGTTTTTTTTCCAGCAAACATGAATGAATGAATGAACGAATTAATGAATATCTTTATCCAAGGAAGTTTTAAATCCCATGTGTCCCTTGTCTCTCGGCGAGCGGTTCATCCCACTGTGGGACTGTACTTGCCCAGAGGAAAGAGTGCCTTTTCCTGTTTTACACAGAGGCTCCATTTGCCCACAAAACCTTACATATTTACATTGCATTTGGATGACTTTAAAAATAATAAGTTATCTAAACCATTCCAGGTATAATGTCCTAAAAATCAAAATCTATTTCTCCTTCCATTATACAACTTCAGCAAATATTCTATGCTCCAGTAGGTCTTTTTTAAGACTTCACCAAATGTTGAAAACATCTTAATTGCCTCATCTTATTCATATTTGTCTCTAGGGTTTTAATTCAAATACATTTCTCTTCTGCTCTATCATATAATACCATTCAGATACTGGTGGGAAACAAGAGGTCTACATACAACAGATATCACCGA | benign | 148,946 |
Chromosome 9, position 108916196, gene ELP1 (elongator acetyltransferase complex subunit 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_dysautonomia'] | TCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACGAGATGGAGATCGAGACCATCCTGGCTAACGCGGTGAAACCCTGCCTCTACCAAAAATACAAAAAATTAGCCAGGCTTGGTGGCGGGCGCCTGTAGACCCAGCTACTCGGGAAGCTGAGGCAGGAAAATGGAGTGAACCCGGGAGGCAGAGCTTGCAGTGACCGAGATCGGGCCACTGCACTCCAGCCTGGGGGAAAGAGAGAGACTCCGTCTCCAAAAAAAAAAAAAAAGGGGGGGGGGGTTCTACTGATTAAAGAGTTTGAAAGCTACTTAGAAAATAATCAAGTAAAAAGATTTATGAACAAAAATGTACCATGCATTGCTGTTTACAATAATGAGAAATGACAAAACTGTAAATGTCTAACAGCATGAGATTTAATGAACGAGAATAAACGAGTATTATACAGCAATTTAAAATGATGCAGATGTATCACACCTACACTTTTTTTTGTTTTGTTTTGAGACAGTCTCACTCTGTCGCCAAGGCTGGAGTGCAGTGGCACGATCTCCATTCACTGCAAGCTCCGCCTCCTCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTACACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCCCCCAAAGTGCATGAGCCACCGCACCTGGCCCATACCTACTACACTTTTAACAAAAACAAGATGATAGCTATACTGAGATATATACATGAAAAACCTAGAAGACAAGAAAATTTGAATAGTGATTATTACGAAGTGGTAGAACTATGAGATTTTTTTCTCATCTTATTTTCTAACATTTTCAAGTATTATTTAATACTTAAAACCACACACTTATACATTTTAAAAGCTATAAAAATATTCTTACTTTTACGCTTAATCTAAATCTTCTTTCACGTCCACAGAATTCCTTTGGTTAGTGTTTTTTCTGTGGTAATACCATGCACTAGGGAAAGCACGTGATGACTTACAACAGTTAATTTTATTGTGTCAAGTTGGCTAGGCTATGGCACCCAGCTATCTGCTAAACTCCAGATGTTGCTGTGAAGGTATTCTGTAGATGTGATTAATATTTATAATCGGCTGACTATAAGGAAAGCAGATTATTCCCCATAATGTGGGAAGGTCCCATTCATTCAGCTGAAGACCTTAAAAGCAAAAACTGAGGCTTCGCAGAAAAGAAGAAATTCTGCCTTAAGGCTGTAACAGAAATCCTCCCTAAGTTTCCAGCCTGCCCTACAGATTTCATACTCAAGACAGCAACATCAATTCTTACCTGAATTTCCAGCCTGCCAACCTGCCCCCACAAATTTCAAACTTGCCATCCCCTACATTAGCTAATCTTTTAAAGTAAATCTATCCACACTCTATTACTCTCTCTCCCTCCCGCCCCACCCTATTCCCTCTCTCACCGTCTCTCTATGTAAGTACAGCTGACCCTTGAACAACACAGGCTTGAACTACACAGGTCCATTTATATTCGTATTTTTTTCAATGAATACAGTCGGCCCTTCATATTGTGGATTCTATACCCGCAACCAAACGCACATCAAAAATATGGTACTTGAGGAATGCAAAACCCAAGTATACAAAAGGCTGACTTTTCATATCTGAGTGTTCTGCAGGGTTGACTGCAGGACTTGACCATGTGTGGATTTTGGCGTCCATGGGCAATCCTAGAACTAATCCCCCGAGAATACTGAGGGACGAATTATATATATGTATTATTTGTTTCTCTAGAGAACCCCAACCAATACATGACTGAAATCCACAATCAATCAAAACCTAACCACCCCCATTTCCACCTACCCACTTCAGCATCTTTGATTCTACTAAGGGACTAAGTAGAAGGGATGAAGGAAATCCCATACCTGTCTACTTTCAACTACGTTTTATGGGGCAGAAGGCTGGGGTACTACAGCTGTCTTACCACAGGTTTTCGGAATGGAGCTTTCTTCTCTCTGAAGGTCTTCCAGCCAGACTGCAAGCACAGAGGAATCTGCATTCCAGAGCAAGTCATTTACCTAGAAGGGAAAAAAGATCTGTCATTGGCTTTCAGTTATGGATTTACTTCCAAATCTTTATAATAGCTGTATTTCCTCTCTCAAATCAAATAATCCCACTACCTGAGCTCATCCCTAGCTGTAAATCACTAACCTACAGAGGCATTAAACAAATCTGTAAAATATGTCATTATTATGTAGAGGACTTAAAAAAAAGAAATACATTATGCTTAAAGATTAAAAGAGACTTAAGAAACTTAACCAAATACAAGGTGACATTTTTAGACAATCAGAGAAACTGGAATATGGACTGGGTGTTAGACAACACAGAGATAAGATGTAATAATAGAATTATGGTTATGTAAAGAAAAATGTCCTTAACTGTTATAAATAAATATTGAAAATATGATTTCTAGAATTAAAACTCCAGGAAATAAAAATATATGTAAGTATATATATGTATAGGCCAAAGAGTTGCGGACCGATGAAAATAGTTTTGCAAAATGTTGGTATCTACTGAAAGTGAGTAATAGTTACATGGGAGTTCATTAAACTCGTCTCTCAACTTAGGATGTTTAAAATTTTACACAGAGATACCATTTGATGTGTTCTCACTTCAGCAAGAATCTTAATGGTATACAAACCACTTAAGATTTAAATGTTATAAATGAAAAACATCTTCATTACTGGAAAAATTATGCTTTTGTCAAAATAAACAATAAAAACTAGCATTTTTATTTCCTACTTCTGTTTTATCTAAGGTGGGGGACAAATGCTATTATTTGCAAAATCACTGGAAAAACAATATTTTATTAAATAAAAATCAGTTCTAGGAAGCCACCATTTTTATTACTATTTACTCTAAAGCTACTATTTATATATCCATATCAAATATAAATCCCCTCTATAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACCTGAGGTCAGGGGTTTGAGACCAGCCTGACCAACACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGCTGTGGTGGCGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAACCGAGATTGCACTATCGCACTCCAACCTGGGCAACAAGAATGAAACTCCATCTCAAAAAAAAAAAAAAAAAATTCCCTCTATAGCTATGGAAAGTCCTCTACATTCGAGGGTGAAACAAACTCAGGCACTTACCTTAACCTCATCTTTAAGGAAGGGAAGTGTAAAGTGTCCATGAAGGAGTCCATTTTTCTCAAAAAACACAATATCCTGCTGGTTGGGTTTATCTTGTGTAGATGCAATCAAACTGCCTGAGGGTCTTAAAGCAAACTCAGAGTGTTACAATATCGAAAGCTCACCTAACTAAAGAATAGATAAAATCCAGAAGAGTTTTTTTTCCAGCAAACATGAATGAATGAATGAACGAATTAATGAATATCTTTATCCAAGGAAGTTTTAAATCCCATGTGTCCCTTGTCTCTCGGCGAGCGGTTCATCCCACTGTGGGACTGTACTTGCCCAGAGGAAAGAGTGCCTTTTCCTGTTTTACACAGAGGCTCCATTTGCCCACAAAACCTTACATATTTACATTGCATTTGGATGACTTTAAAAATAATAAGTTATCTAAACCATTCCAGGTATAATGTCCTAAAAATCAAAATCTATTTCTCCTTCCATTATACAACTTCAGCAAATATTCTATGCTCCAGTAGGTCTTTTTTAAGACTTCACCAAATGTTGAAAACATCTTAATTGCCTCATCTTATTCATATTTGTCTCTAGGGTTTTAATTCAAATACATTTCTCTTCTGCTCTATCATATAATACCATTCAGATACTGGTGGGAAACAAGAGGTCTACATACAACAGATATCACCGAAACAGAGGAGAT | TCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACGAGATGGAGATCGAGACCATCCTGGCTAACGCGGTGAAACCCTGCCTCTACCAAAAATACAAAAAATTAGCCAGGCTTGGTGGCGGGCGCCTGTAGACCCAGCTACTCGGGAAGCTGAGGCAGGAAAATGGAGTGAACCCGGGAGGCAGAGCTTGCAGTGACCGAGATCGGGCCACTGCACTCCAGCCTGGGGGAAAGAGAGAGACTCCGTCTCCAAAAAAAAAAAAAAAGGGGGGGGGGGTTCTACTGATTAAAGAGTTTGAAAGCTACTTAGAAAATAATCAAGTAAAAAGATTTATGAACAAAAATGTACCATGCATTGCTGTTTACAATAATGAGAAATGACAAAACTGTAAATGTCTAACAGCATGAGATTTAATGAACGAGAATAAACGAGTATTATACAGCAATTTAAAATGATGCAGATGTATCACACCTACACTTTTTTTTGTTTTGTTTTGAGACAGTCTCACTCTGTCGCCAAGGCTGGAGTGCAGTGGCACGATCTCCATTCACTGCAAGCTCCGCCTCCTCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTACACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCCCCCAAAGTGCATGAGCCACCGCACCTGGCCCATACCTACTACACTTTTAACAAAAACAAGATGATAGCTATACTGAGATATATACATGAAAAACCTAGAAGACAAGAAAATTTGAATAGTGATTATTACGAAGTGGTAGAACTATGAGATTTTTTTCTCATCTTATTTTCTAACATTTTCAAGTATTATTTAATACTTAAAACCACACACTTATACATTTTAAAAGCTATAAAAATATTCTTACTTTTACGCTTAATCTAAATCTTCTTTCACGTCCACAGAATTCCTTTGGTTAGTGTTTTTTCTGTGGTAATACCATGCACTAGGGAAAGCACGTGATGACTTACAACAGTTAATTTTATTGTGTCAAGTTGGCTAGGCTATGGCACCCAGCTATCTGCTAAACTCCAGATGTTGCTGTGAAGGTATTCTGTAGATGTGATTAATATTTATAATCGGCTGACTATAAGGAAAGCAGATTATTCCCCATAATGTGGGAAGGTCCCATTCATTCAGCTGAAGACCTTAAAAGCAAAAACTGAGGCTTCGCAGAAAAGAAGAAATTCTGCCTTAAGGCTGTAACAGAAATCCTCCCTAAGTTTCCAGCCTGCCCTACAGATTTCATACTCAAGACAGCAACATCAATTCTTACCTGAATTTCCAGCCTGCCAACCTGCCCCCACAAATTTCAAACTTGCCATCCCCTACATTAGCTAATCTTTTAAAGTAAATCTATCCACACTCTATTACTCTCTCTCCCTCCCGCCCCACCCTATTCCCTCTCTCACCGTCTCTCTATGTAAGTACAGCTGACCCTTGAACAACACAGGCTTGAACTACACAGGTCCATTTATATTCGTATTTTTTTCAATGAATACAGTCGGCCCTTCATATTGTGGATTCTATACCCGCAACCAAACGCACATCAAAAATATGGTACTTGAGGAATGCAAAACCCAAGTATACAAAAGGCTGACTTTTCATATCTGAGTGTTCTGCAGGGTTGACTGCAGGACTTGACCATGTGTGGATTTTGGCGTCCATGGGCAATCCTAGAACTAATCCCCCGAGAATACTGAGGGACGAATTATATATATGTATTATTTGTTTCTCTAGAGAACCCCAACCAATACATGACTGAAATCCACAATCAATCAAAACCTAACCACCCCCATTTCCACCTACCCACTTCAGCATCTTTGATTCTACTAAGGGACTAAGTAGAAGGGATGAAGGAAATCCCATACCTGTCTACTTTCAACTACGTTTTATGGGGCAGAAGGCTGGGGTACTACAGCTGTTTTCGGAATGGAGCTTTCTTCTCTCTGAAGGTCTTCCAGCCAGACTGCAAGCACAGAGGAATCTGCATTCCAGAGCAAGTCATTTACCTAGAAGGGAAAAAAGATCTGTCATTGGCTTTCAGTTATGGATTTACTTCCAAATCTTTATAATAGCTGTATTTCCTCTCTCAAATCAAATAATCCCACTACCTGAGCTCATCCCTAGCTGTAAATCACTAACCTACAGAGGCATTAAACAAATCTGTAAAATATGTCATTATTATGTAGAGGACTTAAAAAAAAGAAATACATTATGCTTAAAGATTAAAAGAGACTTAAGAAACTTAACCAAATACAAGGTGACATTTTTAGACAATCAGAGAAACTGGAATATGGACTGGGTGTTAGACAACACAGAGATAAGATGTAATAATAGAATTATGGTTATGTAAAGAAAAATGTCCTTAACTGTTATAAATAAATATTGAAAATATGATTTCTAGAATTAAAACTCCAGGAAATAAAAATATATGTAAGTATATATATGTATAGGCCAAAGAGTTGCGGACCGATGAAAATAGTTTTGCAAAATGTTGGTATCTACTGAAAGTGAGTAATAGTTACATGGGAGTTCATTAAACTCGTCTCTCAACTTAGGATGTTTAAAATTTTACACAGAGATACCATTTGATGTGTTCTCACTTCAGCAAGAATCTTAATGGTATACAAACCACTTAAGATTTAAATGTTATAAATGAAAAACATCTTCATTACTGGAAAAATTATGCTTTTGTCAAAATAAACAATAAAAACTAGCATTTTTATTTCCTACTTCTGTTTTATCTAAGGTGGGGGACAAATGCTATTATTTGCAAAATCACTGGAAAAACAATATTTTATTAAATAAAAATCAGTTCTAGGAAGCCACCATTTTTATTACTATTTACTCTAAAGCTACTATTTATATATCCATATCAAATATAAATCCCCTCTATAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACCTGAGGTCAGGGGTTTGAGACCAGCCTGACCAACACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGCTGTGGTGGCGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAACCGAGATTGCACTATCGCACTCCAACCTGGGCAACAAGAATGAAACTCCATCTCAAAAAAAAAAAAAAAAAATTCCCTCTATAGCTATGGAAAGTCCTCTACATTCGAGGGTGAAACAAACTCAGGCACTTACCTTAACCTCATCTTTAAGGAAGGGAAGTGTAAAGTGTCCATGAAGGAGTCCATTTTTCTCAAAAAACACAATATCCTGCTGGTTGGGTTTATCTTGTGTAGATGCAATCAAACTGCCTGAGGGTCTTAAAGCAAACTCAGAGTGTTACAATATCGAAAGCTCACCTAACTAAAGAATAGATAAAATCCAGAAGAGTTTTTTTTCCAGCAAACATGAATGAATGAATGAACGAATTAATGAATATCTTTATCCAAGGAAGTTTTAAATCCCATGTGTCCCTTGTCTCTCGGCGAGCGGTTCATCCCACTGTGGGACTGTACTTGCCCAGAGGAAAGAGTGCCTTTTCCTGTTTTACACAGAGGCTCCATTTGCCCACAAAACCTTACATATTTACATTGCATTTGGATGACTTTAAAAATAATAAGTTATCTAAACCATTCCAGGTATAATGTCCTAAAAATCAAAATCTATTTCTCCTTCCATTATACAACTTCAGCAAATATTCTATGCTCCAGTAGGTCTTTTTTAAGACTTCACCAAATGTTGAAAACATCTTAATTGCCTCATCTTATTCATATTTGTCTCTAGGGTTTTAATTCAAATACATTTCTCTTCTGCTCTATCATATAATACCATTCAGATACTGGTGGGAAACAAGAGGTCTACATACAACAGATATCACCGAAACAGAGGAGATNNNNNNNNNNNN | pathogenic | 148,947 |
Is the genetic change at chromosome 9, position 108917684, within gene ELP1 (elongator acetyltransferase complex subunit 1) benign or pathogenic? Name the disease(s) if pathogenic. | benign | ACACTCTATTACTCTCTCTCCCTCCCGCCCCACCCTATTCCCTCTCTCACCGTCTCTCTATGTAAGTACAGCTGACCCTTGAACAACACAGGCTTGAACTACACAGGTCCATTTATATTCGTATTTTTTTCAATGAATACAGTCGGCCCTTCATATTGTGGATTCTATACCCGCAACCAAACGCACATCAAAAATATGGTACTTGAGGAATGCAAAACCCAAGTATACAAAAGGCTGACTTTTCATATCTGAGTGTTCTGCAGGGTTGACTGCAGGACTTGACCATGTGTGGATTTTGGCGTCCATGGGCAATCCTAGAACTAATCCCCCGAGAATACTGAGGGACGAATTATATATATGTATTATTTGTTTCTCTAGAGAACCCCAACCAATACATGACTGAAATCCACAATCAATCAAAACCTAACCACCCCCATTTCCACCTACCCACTTCAGCATCTTTGATTCTACTAAGGGACTAAGTAGAAGGGATGAAGGAAATCCCATACCTGTCTACTTTCAACTACGTTTTATGGGGCAGAAGGCTGGGGTACTACAGCTGTCTTACCACAGGTTTTCGGAATGGAGCTTTCTTCTCTCTGAAGGTCTTCCAGCCAGACTGCAAGCACAGAGGAATCTGCATTCCAGAGCAAGTCATTTACCTAGAAGGGAAAAAAGATCTGTCATTGGCTTTCAGTTATGGATTTACTTCCAAATCTTTATAATAGCTGTATTTCCTCTCTCAAATCAAATAATCCCACTACCTGAGCTCATCCCTAGCTGTAAATCACTAACCTACAGAGGCATTAAACAAATCTGTAAAATATGTCATTATTATGTAGAGGACTTAAAAAAAAGAAATACATTATGCTTAAAGATTAAAAGAGACTTAAGAAACTTAACCAAATACAAGGTGACATTTTTAGACAATCAGAGAAACTGGAATATGGACTGGGTGTTAGACAACACAGAGATAAGATGTAATAATAGAATTATGGTTATGTAAAGAAAAATGTCCTTAACTGTTATAAATAAATATTGAAAATATGATTTCTAGAATTAAAACTCCAGGAAATAAAAATATATGTAAGTATATATATGTATAGGCCAAAGAGTTGCGGACCGATGAAAATAGTTTTGCAAAATGTTGGTATCTACTGAAAGTGAGTAATAGTTACATGGGAGTTCATTAAACTCGTCTCTCAACTTAGGATGTTTAAAATTTTACACAGAGATACCATTTGATGTGTTCTCACTTCAGCAAGAATCTTAATGGTATACAAACCACTTAAGATTTAAATGTTATAAATGAAAAACATCTTCATTACTGGAAAAATTATGCTTTTGTCAAAATAAACAATAAAAACTAGCATTTTTATTTCCTACTTCTGTTTTATCTAAGGTGGGGGACAAATGCTATTATTTGCAAAATCACTGGAAAAACAATATTTTATTAAATAAAAATCAGTTCTAGGAAGCCACCATTTTTATTACTATTTACTCTAAAGCTACTATTTATATATCCATATCAAATATAAATCCCCTCTATAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACCTGAGGTCAGGGGTTTGAGACCAGCCTGACCAACACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGCTGTGGTGGCGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAACCGAGATTGCACTATCGCACTCCAACCTGGGCAACAAGAATGAAACTCCATCTCAAAAAAAAAAAAAAAAAATTCCCTCTATAGCTATGGAAAGTCCTCTACATTCGAGGGTGAAACAAACTCAGGCACTTACCTTAACCTCATCTTTAAGGAAGGGAAGTGTAAAGTGTCCATGAAGGAGTCCATTTTTCTCAAAAAACACAATATCCTGCTGGTTGGGTTTATCTTGTGTAGATGCAATCAAACTGCCTGAGGGTCTTAAAGCAAACTCAGAGTGTTACAATATCGAAAGCTCACCTAACTAAAGAATAGATAAAATCCAGAAGAGTTTTTTTTCCAGCAAACATGAATGAATGAATGAACGAATTAATGAATATCTTTATCCAAGGAAGTTTTAAATCCCATGTGTCCCTTGTCTCTCGGCGAGCGGTTCATCCCACTGTGGGACTGTACTTGCCCAGAGGAAAGAGTGCCTTTTCCTGTTTTACACAGAGGCTCCATTTGCCCACAAAACCTTACATATTTACATTGCATTTGGATGACTTTAAAAATAATAAGTTATCTAAACCATTCCAGGTATAATGTCCTAAAAATCAAAATCTATTTCTCCTTCCATTATACAACTTCAGCAAATATTCTATGCTCCAGTAGGTCTTTTTTAAGACTTCACCAAATGTTGAAAACATCTTAATTGCCTCATCTTATTCATATTTGTCTCTAGGGTTTTAATTCAAATACATTTCTCTTCTGCTCTATCATATAATACCATTCAGATACTGGTGGGAAACAAGAGGTCTACATACAACAGATATCACCGAAACAGAGGAGATACATCTTCTATCTAAAATCAGGCAGCCACATATGACAGGCAAATTGTAACCTGCACAAGGGTACTGGGCCAAGGAGGAGAATGGAAGGAAAGAGCAGGGTCTGAATCCAGCCTGCATGCTCCTTGGCAAGCAGATCCTCTGCTGTAGGAATTTTGTGCCAAGGAAGGAGGCTCTTTCCCTAATTTCCACAAAAGCACCATTTGCCCCACAGAGCCTTGCAAACTGGGCCTTCCCTTCTAAACACCATTTTCTGCTCTGTACAATGGCTTCATATATACCCTGCCTTAAAACCACAGCCTTTTAAGAGTTAGGAATGCAAAATATATGCGGCCTTGGAACAATGAAATCTGTGAAGAAGCGTAAAATCTACTATTCGAGTTGAATTCAGACTTCAGGGAATAAGAAAAAAAAAAAAGAAGAAACAAAGATAGATACAGCCTTATAACCAAATGAAGAAACGTAAAAATCCTTTTGTGTTACACAAACATCTGTATCATCTGTATCCATGTGTACCACCACCTCTACTCTGGTTCCAAGAATTTCTCTAAGGTTTCTTCTCCCACTCACTTCCAAGCCAGGGCTGGTCCCAGTCCTGCCACAGGCTCACTGGTTGACTGCAAAGCAAACTCTCGGTTCCACACTCTGACCTTCCGAGCCCCTGTGCGGGAGTGGAGTCAAACACACATACACACTTAAAACATTATGATAAAAGTTGTCAATTCAGAACTATTCAAACACCTTCCTTACAAATAAAAACTGCCATGGTTTTACATAGCCAATTAGATTAATTTTGTTACAAATTTGTGTCCACCAGGTAGGAGGATGGACCAAATGGCCTCAAAGGACTCTTCTAATTCTTAACTCTAACCTCATTTCACATTTAAAGCAGCACATCCTTGCCTCATATGTATAATTAATACCCTACTCAAAGCAAAAGAAAGAAAATTTTCCTTAATTTTAATAAGATAAAAATTTTTTATTGTTGTTTAACTGCAATATATTTCCATACCTGTTTCTGGGCAAACAACACTCACAGCAAAAAACTGTCCATCCCCCCGCCAGGTAACTTGTGGTCTATGGTCATCCCAGGGCAAAGCAGACTCATGCTAAAAAGGGGAACAAACACCAATATTACTGGGGGACCTTAAGTATCCCAGAATCAAACAAGCCTCAGACCACTAGATACAGATGTTTTTTAAGAGGTTTAAGCTACTTTGAAAGCCTGCCTCTAGAATCAGAAACCATCCAAGGGTTGGTTCTTAGAACGCAGAAATCATCAAAAAGAAGAAAAAAATGTAAAACAAACAAAATCCTCCTTTCGGCATTAAAAAAAAAAAAAGTGGCCTCTGAGAACAGCAAAAGAGGAAAAGAGCTACAGATCTAGATCCTGAATATAATGAGCTAAGGAACCTATCAGGTAACTACAACAAGGAAACAAGTGTTCCATTTGTCCAACAGGGTAGAGTTTTGTTTACATATTGTGTAAGC | ACACTCTATTACTCTCTCTCCCTCCCGCCCCACCCTATTCCCTCTCTCACCGTCTCTCTATGTAAGTACAGCTGACCCTTGAACAACACAGGCTTGAACTACACAGGTCCATTTATATTCGTATTTTTTTCAATGAATACAGTCGGCCCTTCATATTGTGGATTCTATACCCGCAACCAAACGCACATCAAAAATATGGTACTTGAGGAATGCAAAACCCAAGTATACAAAAGGCTGACTTTTCATATCTGAGTGTTCTGCAGGGTTGACTGCAGGACTTGACCATGTGTGGATTTTGGCGTCCATGGGCAATCCTAGAACTAATCCCCCGAGAATACTGAGGGACGAATTATATATATGTATTATTTGTTTCTCTAGAGAACCCCAACCAATACATGACTGAAATCCACAATCAATCAAAACCTAACCACCCCCATTTCCACCTACCCACTTCAGCATCTTTGATTCTACTAAGGGACTAAGTAGAAGGGATGAAGGAAATCCCATACCTGTCTACTTTCAACTACGTTTTATGGGGCAGAAGGCTGGGGTACTACAGCTGTCTTACCACAGGTTTTCGGAATGGAGCTTTCTTCTCTCTGAAGGTCTTCCAGCCAGACTGCAAGCACAGAGGAATCTGCATTCCAGAGCAAGTCATTTACCTAGAAGGGAAAAAAGATCTGTCATTGGCTTTCAGTTATGGATTTACTTCCAAATCTTTATAATAGCTGTATTTCCTCTCTCAAATCAAATAATCCCACTACCTGAGCTCATCCCTAGCTGTAAATCACTAACCTACAGAGGCATTAAACAAATCTGTAAAATATGTCATTATTATGTAGAGGACTTAAAAAAAAGAAATACATTATGCTTAAAGATTAAAAGAGACTTAAGAAACTTAACCAAATACAAGGTGACATTTTTAGACAATCAGAGAAACTGGAATATGGACTGGGTGTTAGACAACACAGAGATAAGATGTAATAATAGAATTATGGTTATGTAAAGAAAAATGTCCTTAACTGTTATAAATAAATATTGAAAATATGATTTCTAGAATTAAAACTCCAGGAAATAAAAATATATGTAAGTATATATATGTATAGGCCAAAGAGTTGCGGACCGATGAAAATAGTTTTGCAAAATGTTGGTATCTACTGAAAGTGAGTAATAGTTACATGGGAGTTCATTAAACTCGTCTCTCAACTTAGGATGTTTAAAATTTTACACAGAGATACCATTTGATGTGTTCTCACTTCAGCAAGAATCTTAATGGTATACAAACCACTTAAGATTTAAATGTTATAAATGAAAAACATCTTCATTACTGGAAAAATTATGCTTTTGTCAAAATAAACAATAAAAACTAGCATTTTTATTTCCTACTTCTGTTTTATCTAAGGTGGGGGACAAATGCTATTATTTGCAAAATCACTGGAAAAACAATATTTTATTAAATAAAAATCAGTTCTAGGAAGCCACCATTTTTATTACTATTTACTCTAAAGCTACTATTTATATATCCATATCAAATATAAATCCCCTCTATAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACCTGAGGTCAGGGGTTTGAGACCAGCCTGACCAACACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGCTGTGGTGGCGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAACCGAGATTGCACTATCGCACTCCAACCTGGGCAACAAGAATGAAACTCCATCTCAAAAAAAAAAAAAAAAAATTCCCTCTATAGCTATGGAAAGTCCTCTACATTCGAGGGTGAAACAAACTCAGGCACTTACCTTAACCTCATCTTTAAGGAAGGGAAGTGTAAAGTGTCCATGAAGGAGTCCATTTTTCTCAAAAAACACAATATCCTGCTGGTTGGGTTTATCTTGTGTAGATGCAATCAAACTGCCTGAGGGTCTTAAAGCAAACTCAAGAGTGTTACAATATCGAAAGCTCACCTAACTAAAGAATAGATAAAATCCAGAAGAGTTTTTTTTCCAGCAAACATGAATGAATGAATGAACGAATTAATGAATATCTTTATCCAAGGAAGTTTTAAATCCCATGTGTCCCTTGTCTCTCGGCGAGCGGTTCATCCCACTGTGGGACTGTACTTGCCCAGAGGAAAGAGTGCCTTTTCCTGTTTTACACAGAGGCTCCATTTGCCCACAAAACCTTACATATTTACATTGCATTTGGATGACTTTAAAAATAATAAGTTATCTAAACCATTCCAGGTATAATGTCCTAAAAATCAAAATCTATTTCTCCTTCCATTATACAACTTCAGCAAATATTCTATGCTCCAGTAGGTCTTTTTTAAGACTTCACCAAATGTTGAAAACATCTTAATTGCCTCATCTTATTCATATTTGTCTCTAGGGTTTTAATTCAAATACATTTCTCTTCTGCTCTATCATATAATACCATTCAGATACTGGTGGGAAACAAGAGGTCTACATACAACAGATATCACCGAAACAGAGGAGATACATCTTCTATCTAAAATCAGGCAGCCACATATGACAGGCAAATTGTAACCTGCACAAGGGTACTGGGCCAAGGAGGAGAATGGAAGGAAAGAGCAGGGTCTGAATCCAGCCTGCATGCTCCTTGGCAAGCAGATCCTCTGCTGTAGGAATTTTGTGCCAAGGAAGGAGGCTCTTTCCCTAATTTCCACAAAAGCACCATTTGCCCCACAGAGCCTTGCAAACTGGGCCTTCCCTTCTAAACACCATTTTCTGCTCTGTACAATGGCTTCATATATACCCTGCCTTAAAACCACAGCCTTTTAAGAGTTAGGAATGCAAAATATATGCGGCCTTGGAACAATGAAATCTGTGAAGAAGCGTAAAATCTACTATTCGAGTTGAATTCAGACTTCAGGGAATAAGAAAAAAAAAAAAGAAGAAACAAAGATAGATACAGCCTTATAACCAAATGAAGAAACGTAAAAATCCTTTTGTGTTACACAAACATCTGTATCATCTGTATCCATGTGTACCACCACCTCTACTCTGGTTCCAAGAATTTCTCTAAGGTTTCTTCTCCCACTCACTTCCAAGCCAGGGCTGGTCCCAGTCCTGCCACAGGCTCACTGGTTGACTGCAAAGCAAACTCTCGGTTCCACACTCTGACCTTCCGAGCCCCTGTGCGGGAGTGGAGTCAAACACACATACACACTTAAAACATTATGATAAAAGTTGTCAATTCAGAACTATTCAAACACCTTCCTTACAAATAAAAACTGCCATGGTTTTACATAGCCAATTAGATTAATTTTGTTACAAATTTGTGTCCACCAGGTAGGAGGATGGACCAAATGGCCTCAAAGGACTCTTCTAATTCTTAACTCTAACCTCATTTCACATTTAAAGCAGCACATCCTTGCCTCATATGTATAATTAATACCCTACTCAAAGCAAAAGAAAGAAAATTTTCCTTAATTTTAATAAGATAAAAATTTTTTATTGTTGTTTAACTGCAATATATTTCCATACCTGTTTCTGGGCAAACAACACTCACAGCAAAAAACTGTCCATCCCCCCGCCAGGTAACTTGTGGTCTATGGTCATCCCAGGGCAAAGCAGACTCATGCTAAAAAGGGGAACAAACACCAATATTACTGGGGGACCTTAAGTATCCCAGAATCAAACAAGCCTCAGACCACTAGATACAGATGTTTTTTAAGAGGTTTAAGCTACTTTGAAAGCCTGCCTCTAGAATCAGAAACCATCCAAGGGTTGGTTCTTAGAACGCAGAAATCATCAAAAAGAAGAAAAAAATGTAAAACAAACAAAATCCTCCTTTCGGCATTAAAAAAAAAAAAAGTGGCCTCTGAGAACAGCAAAAGAGGAAAAGAGCTACAGATCTAGATCCTGAATATAATGAGCTAAGGAACCTATCAGGTAACTACAACAAGGAAACAAGTGTTCCATTTGTCCAACAGGGTAGAGTTTTGTTTACATATTGTGTAAG | benign | 148,959 |
Mutation found at chromosome 9 position 108918839, gene ELP1 (elongator acetyltransferase complex subunit 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_dysautonomia', 'Medulloblastoma'] | TACTGAAAGTGAGTAATAGTTACATGGGAGTTCATTAAACTCGTCTCTCAACTTAGGATGTTTAAAATTTTACACAGAGATACCATTTGATGTGTTCTCACTTCAGCAAGAATCTTAATGGTATACAAACCACTTAAGATTTAAATGTTATAAATGAAAAACATCTTCATTACTGGAAAAATTATGCTTTTGTCAAAATAAACAATAAAAACTAGCATTTTTATTTCCTACTTCTGTTTTATCTAAGGTGGGGGACAAATGCTATTATTTGCAAAATCACTGGAAAAACAATATTTTATTAAATAAAAATCAGTTCTAGGAAGCCACCATTTTTATTACTATTTACTCTAAAGCTACTATTTATATATCCATATCAAATATAAATCCCCTCTATAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACCTGAGGTCAGGGGTTTGAGACCAGCCTGACCAACACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGCTGTGGTGGCGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAACCGAGATTGCACTATCGCACTCCAACCTGGGCAACAAGAATGAAACTCCATCTCAAAAAAAAAAAAAAAAAATTCCCTCTATAGCTATGGAAAGTCCTCTACATTCGAGGGTGAAACAAACTCAGGCACTTACCTTAACCTCATCTTTAAGGAAGGGAAGTGTAAAGTGTCCATGAAGGAGTCCATTTTTCTCAAAAAACACAATATCCTGCTGGTTGGGTTTATCTTGTGTAGATGCAATCAAACTGCCTGAGGGTCTTAAAGCAAACTCAGAGTGTTACAATATCGAAAGCTCACCTAACTAAAGAATAGATAAAATCCAGAAGAGTTTTTTTTCCAGCAAACATGAATGAATGAATGAACGAATTAATGAATATCTTTATCCAAGGAAGTTTTAAATCCCATGTGTCCCTTGTCTCTCGGCGAGCGGTTCATCCCACTGTGGGACTGTACTTGCCCAGAGGAAAGAGTGCCTTTTCCTGTTTTACACAGAGGCTCCATTTGCCCACAAAACCTTACATATTTACATTGCATTTGGATGACTTTAAAAATAATAAGTTATCTAAACCATTCCAGGTATAATGTCCTAAAAATCAAAATCTATTTCTCCTTCCATTATACAACTTCAGCAAATATTCTATGCTCCAGTAGGTCTTTTTTAAGACTTCACCAAATGTTGAAAACATCTTAATTGCCTCATCTTATTCATATTTGTCTCTAGGGTTTTAATTCAAATACATTTCTCTTCTGCTCTATCATATAATACCATTCAGATACTGGTGGGAAACAAGAGGTCTACATACAACAGATATCACCGAAACAGAGGAGATACATCTTCTATCTAAAATCAGGCAGCCACATATGACAGGCAAATTGTAACCTGCACAAGGGTACTGGGCCAAGGAGGAGAATGGAAGGAAAGAGCAGGGTCTGAATCCAGCCTGCATGCTCCTTGGCAAGCAGATCCTCTGCTGTAGGAATTTTGTGCCAAGGAAGGAGGCTCTTTCCCTAATTTCCACAAAAGCACCATTTGCCCCACAGAGCCTTGCAAACTGGGCCTTCCCTTCTAAACACCATTTTCTGCTCTGTACAATGGCTTCATATATACCCTGCCTTAAAACCACAGCCTTTTAAGAGTTAGGAATGCAAAATATATGCGGCCTTGGAACAATGAAATCTGTGAAGAAGCGTAAAATCTACTATTCGAGTTGAATTCAGACTTCAGGGAATAAGAAAAAAAAAAAAGAAGAAACAAAGATAGATACAGCCTTATAACCAAATGAAGAAACGTAAAAATCCTTTTGTGTTACACAAACATCTGTATCATCTGTATCCATGTGTACCACCACCTCTACTCTGGTTCCAAGAATTTCTCTAAGGTTTCTTCTCCCACTCACTTCCAAGCCAGGGCTGGTCCCAGTCCTGCCACAGGCTCACTGGTTGACTGCAAAGCAAACTCTCGGTTCCACACTCTGACCTTCCGAGCCCCTGTGCGGGAGTGGAGTCAAACACACATACACACTTAAAACATTATGATAAAAGTTGTCAATTCAGAACTATTCAAACACCTTCCTTACAAATAAAAACTGCCATGGTTTTACATAGCCAATTAGATTAATTTTGTTACAAATTTGTGTCCACCAGGTAGGAGGATGGACCAAATGGCCTCAAAGGACTCTTCTAATTCTTAACTCTAACCTCATTTCACATTTAAAGCAGCACATCCTTGCCTCATATGTATAATTAATACCCTACTCAAAGCAAAAGAAAGAAAATTTTCCTTAATTTTAATAAGATAAAAATTTTTTATTGTTGTTTAACTGCAATATATTTCCATACCTGTTTCTGGGCAAACAACACTCACAGCAAAAAACTGTCCATCCCCCCGCCAGGTAACTTGTGGTCTATGGTCATCCCAGGGCAAAGCAGACTCATGCTAAAAAGGGGAACAAACACCAATATTACTGGGGGACCTTAAGTATCCCAGAATCAAACAAGCCTCAGACCACTAGATACAGATGTTTTTTAAGAGGTTTAAGCTACTTTGAAAGCCTGCCTCTAGAATCAGAAACCATCCAAGGGTTGGTTCTTAGAACGCAGAAATCATCAAAAAGAAGAAAAAAATGTAAAACAAACAAAATCCTCCTTTCGGCATTAAAAAAAAAAAAAGTGGCCTCTGAGAACAGCAAAAGAGGAAAAGAGCTACAGATCTAGATCCTGAATATAATGAGCTAAGGAACCTATCAGGTAACTACAACAAGGAAACAAGTGTTCCATTTGTCCAACAGGGTAGAGTTTTGTTTACATATTGTGTAAGCTTCACAACAGGGCACAGATGAGTTAAGATGTGAACAAGGTGAATAGGGAGGAGCCACAGAGGTGGTAAAGGCAGCAGCAGACAATGACGAAAACATGGAAATGTTCTCATTCTGCAGCATGACGGGAAGAAACGTCTCCTCCAGGGCCACGTGTATCTCAATCCTGAAGCCAACTCTACCGGGTGGGAGACAGATGACCACCCGGGCATTCATCATCATATTCTAGTAACAGCCTAAGAATTCTGCTAGTACTGTACTGTAGTCTGCACAGTAGGGAATACATAGGTAGCCTAACAAAATTTATTCTCAATGAAACTGTCCTAGGGTATAGAAACCAAACCTCCTTTACTGAAGGGTTAAGGCCTGAAATAGGCATTATATGAAATAGAACTGGAAATAATTAAGGACAGAAAACGTAGATGGCAAGCAGGGTATTATTGAGTCATCTATTCTAGAAGAGTAGCTCATAGAAATTTCTACATATAATTATGCTTCCATTTGTTCAGGCCCAACCCTTGGTATCCTCCTCAATTCCTCCCTCTCACCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTTTATGGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACCGCAACCTCTGCCTCCCAGGTACAAGTGATTCTACTACCTTAGCTTCTCAAGTAGCTGAGATTACAGGCATCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATAGGATTTCACCATGTTGGACATGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCAACTTGGCCTCCCAAAGTGCTGGGATTGCAGGCATCAGCCACTGTGCCCAGCTAAATGCAACCTCTTGAATCAGTGTTACTGGGCACTAGGAGAGCCCAGGCAGGGAACAGGCTGAGGGCTAGAATAACACAACTTAAAAAATCAAAGTAAATTATGCTCACATGAGTACTTGTATCTGCCTACTCCATGGATTTTTGTTTTCTTTTCTGAAGGGTAGCTGTGAACTTTCAAACCAAGACGAGGCCCTAGAAAGCCTTTAGAAAAAGTTCATGAAAAAAAGCTAGAGTAGTTTACTGGATAGTACATTAGATAACAGGATGCTCGGTTTTTTTCCCCCATTACCTGGATCATCCTATA | TACTGAAAGTGAGTAATAGTTACATGGGAGTTCATTAAACTCGTCTCTCAACTTAGGATGTTTAAAATTTTACACAGAGATACCATTTGATGTGTTCTCACTTCAGCAAGAATCTTAATGGTATACAAACCACTTAAGATTTAAATGTTATAAATGAAAAACATCTTCATTACTGGAAAAATTATGCTTTTGTCAAAATAAACAATAAAAACTAGCATTTTTATTTCCTACTTCTGTTTTATCTAAGGTGGGGGACAAATGCTATTATTTGCAAAATCACTGGAAAAACAATATTTTATTAAATAAAAATCAGTTCTAGGAAGCCACCATTTTTATTACTATTTACTCTAAAGCTACTATTTATATATCCATATCAAATATAAATCCCCTCTATAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACCTGAGGTCAGGGGTTTGAGACCAGCCTGACCAACACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGCTGTGGTGGCGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAACCGAGATTGCACTATCGCACTCCAACCTGGGCAACAAGAATGAAACTCCATCTCAAAAAAAAAAAAAAAAAATTCCCTCTATAGCTATGGAAAGTCCTCTACATTCGAGGGTGAAACAAACTCAGGCACTTACCTTAACCTCATCTTTAAGGAAGGGAAGTGTAAAGTGTCCATGAAGGAGTCCATTTTTCTCAAAAAACACAATATCCTGCTGGTTGGGTTTATCTTGTGTAGATGCAATCAAACTGCCTGAGGGTCTTAAAGCAAACTCAGAGTGTTACAATATCGAAAGCTCACCTAACTAAAGAATAGATAAAATCCAGAAGAGTTTTTTTTCCAGCAAACATGAATGAATGAATGAACGAATTAATGAATATCTTTATCCAAGGAAGTTTTAAATCCCATGTGTCCCTTGTCTCTCGGCGAGCGGTTCATCCCACTGTGGGACTGTACTTGCCCAGAGGAAAGAGTGCCTTTTCCTGTTTTACACAGAGGCTCCATTTGCCCACAAAACCTTACATATTTACATTGCATTTGGATGACTTTAAAAATAATAAGTTATCTAAACCATTCCAGGTATAATGTCCTAAAAATCAAAATCTATTTCTCCTTCCATTATACAACTTCAGCAAATATTCTATGCTCCAGTAGGTCTTTTTTAAGACTTCACCAAATGTTGAAAACATCTTAATTGCCTCATCTTATTCATATTTGTCTCTAGGGTTTTAATTCAAATACATTTCTCTTCTGCTCTATCATATAATACCATTCAGATACTGGTGGGAAACAAGAGGTCTACATACAACAGATATCACCGAAACAGAGGAGATACATCTTCTATCTAAAATCAGGCAGCCACATATGACAGGCAAATTGTAACCTGCACAAGGGTACTGGGCCAAGGAGGAGAATGGAAGGAAAGAGCAGGGTCTGAATCCAGCCTGCATGCTCCTTGGCAAGCAGATCCTCTGCTGTAGGAATTTTGTGCCAAGGAAGGAGGCTCTTTCCCTAATTTCCACAAAAGCACCATTTGCCCCACAGAGCCTTGCAAACTGGGCCTTCCCTTCTAAACACCATTTTCTGCTCTGTACAATGGCTTCATATATACCCTGCCTTAAAACCACAGCCTTTTAAGAGTTAGGAATGCAAAATATATGCGGCCTTGGAACAATGAAATCTGTGAAGAAGCGTAAAATCTACTATTCGAGTTGAATTCAGACTTCAGGGAATAAGAAAAAAAAAAAAGAAGAAACAAAGATAGATACAGCCTTATAACCAAATGAAGAAACGTAAAAATCCTTTTGTGTTACACAAACATCTGTATCATCTGTATCCATGTGTACCACCACCTCTACTCTGGTTCCAAGAATTTCTCTAAGGTTTCTTCTCCCACTCACTTCCAAGCCAGGGCTGGTCCCAGTCCTGCCACAGCACAGGCTCACTGGTTGACTGCAAAGCAAACTCTCGGTTCCACACTCTGACCTTCCGAGCCCCTGTGCGGGAGTGGAGTCAAACACACATACACACTTAAAACATTATGATAAAAGTTGTCAATTCAGAACTATTCAAACACCTTCCTTACAAATAAAAACTGCCATGGTTTTACATAGCCAATTAGATTAATTTTGTTACAAATTTGTGTCCACCAGGTAGGAGGATGGACCAAATGGCCTCAAAGGACTCTTCTAATTCTTAACTCTAACCTCATTTCACATTTAAAGCAGCACATCCTTGCCTCATATGTATAATTAATACCCTACTCAAAGCAAAAGAAAGAAAATTTTCCTTAATTTTAATAAGATAAAAATTTTTTATTGTTGTTTAACTGCAATATATTTCCATACCTGTTTCTGGGCAAACAACACTCACAGCAAAAAACTGTCCATCCCCCCGCCAGGTAACTTGTGGTCTATGGTCATCCCAGGGCAAAGCAGACTCATGCTAAAAAGGGGAACAAACACCAATATTACTGGGGGACCTTAAGTATCCCAGAATCAAACAAGCCTCAGACCACTAGATACAGATGTTTTTTAAGAGGTTTAAGCTACTTTGAAAGCCTGCCTCTAGAATCAGAAACCATCCAAGGGTTGGTTCTTAGAACGCAGAAATCATCAAAAAGAAGAAAAAAATGTAAAACAAACAAAATCCTCCTTTCGGCATTAAAAAAAAAAAAAGTGGCCTCTGAGAACAGCAAAAGAGGAAAAGAGCTACAGATCTAGATCCTGAATATAATGAGCTAAGGAACCTATCAGGTAACTACAACAAGGAAACAAGTGTTCCATTTGTCCAACAGGGTAGAGTTTTGTTTACATATTGTGTAAGCTTCACAACAGGGCACAGATGAGTTAAGATGTGAACAAGGTGAATAGGGAGGAGCCACAGAGGTGGTAAAGGCAGCAGCAGACAATGACGAAAACATGGAAATGTTCTCATTCTGCAGCATGACGGGAAGAAACGTCTCCTCCAGGGCCACGTGTATCTCAATCCTGAAGCCAACTCTACCGGGTGGGAGACAGATGACCACCCGGGCATTCATCATCATATTCTAGTAACAGCCTAAGAATTCTGCTAGTACTGTACTGTAGTCTGCACAGTAGGGAATACATAGGTAGCCTAACAAAATTTATTCTCAATGAAACTGTCCTAGGGTATAGAAACCAAACCTCCTTTACTGAAGGGTTAAGGCCTGAAATAGGCATTATATGAAATAGAACTGGAAATAATTAAGGACAGAAAACGTAGATGGCAAGCAGGGTATTATTGAGTCATCTATTCTAGAAGAGTAGCTCATAGAAATTTCTACATATAATTATGCTTCCATTTGTTCAGGCCCAACCCTTGGTATCCTCCTCAATTCCTCCCTCTCACCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTTTATGGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACCGCAACCTCTGCCTCCCAGGTACAAGTGATTCTACTACCTTAGCTTCTCAAGTAGCTGAGATTACAGGCATCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATAGGATTTCACCATGTTGGACATGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCAACTTGGCCTCCCAAAGTGCTGGGATTGCAGGCATCAGCCACTGTGCCCAGCTAAATGCAACCTCTTGAATCAGTGTTACTGGGCACTAGGAGAGCCCAGGCAGGGAACAGGCTGAGGGCTAGAATAACACAACTTAAAAAATCAAAGTAAATTATGCTCACATGAGTACTTGTATCTGCCTACTCCATGGATTTTTGTTTTCTTTTCTGAAGGGTAGCTGTGAACTTTCAAACCAAGACGAGGCCCTAGAAAGCCTTTAGAAAAAGTTCATGAAAAAAAGCTAGAGTAGTTTACTGGATAGTACATTAGATAACAGGATGCTCGGTTTTTTTCCCCCATTACCTGGATCATC | pathogenic | 148,962 |
A genetic variant at chromosome 9, position 108918872, affecting gene ELP1 (elongator acetyltransferase complex subunit 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_dysautonomia', 'Medulloblastoma'] | ATTAAACTCGTCTCTCAACTTAGGATGTTTAAAATTTTACACAGAGATACCATTTGATGTGTTCTCACTTCAGCAAGAATCTTAATGGTATACAAACCACTTAAGATTTAAATGTTATAAATGAAAAACATCTTCATTACTGGAAAAATTATGCTTTTGTCAAAATAAACAATAAAAACTAGCATTTTTATTTCCTACTTCTGTTTTATCTAAGGTGGGGGACAAATGCTATTATTTGCAAAATCACTGGAAAAACAATATTTTATTAAATAAAAATCAGTTCTAGGAAGCCACCATTTTTATTACTATTTACTCTAAAGCTACTATTTATATATCCATATCAAATATAAATCCCCTCTATAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACCTGAGGTCAGGGGTTTGAGACCAGCCTGACCAACACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGCTGTGGTGGCGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAACCGAGATTGCACTATCGCACTCCAACCTGGGCAACAAGAATGAAACTCCATCTCAAAAAAAAAAAAAAAAAATTCCCTCTATAGCTATGGAAAGTCCTCTACATTCGAGGGTGAAACAAACTCAGGCACTTACCTTAACCTCATCTTTAAGGAAGGGAAGTGTAAAGTGTCCATGAAGGAGTCCATTTTTCTCAAAAAACACAATATCCTGCTGGTTGGGTTTATCTTGTGTAGATGCAATCAAACTGCCTGAGGGTCTTAAAGCAAACTCAGAGTGTTACAATATCGAAAGCTCACCTAACTAAAGAATAGATAAAATCCAGAAGAGTTTTTTTTCCAGCAAACATGAATGAATGAATGAACGAATTAATGAATATCTTTATCCAAGGAAGTTTTAAATCCCATGTGTCCCTTGTCTCTCGGCGAGCGGTTCATCCCACTGTGGGACTGTACTTGCCCAGAGGAAAGAGTGCCTTTTCCTGTTTTACACAGAGGCTCCATTTGCCCACAAAACCTTACATATTTACATTGCATTTGGATGACTTTAAAAATAATAAGTTATCTAAACCATTCCAGGTATAATGTCCTAAAAATCAAAATCTATTTCTCCTTCCATTATACAACTTCAGCAAATATTCTATGCTCCAGTAGGTCTTTTTTAAGACTTCACCAAATGTTGAAAACATCTTAATTGCCTCATCTTATTCATATTTGTCTCTAGGGTTTTAATTCAAATACATTTCTCTTCTGCTCTATCATATAATACCATTCAGATACTGGTGGGAAACAAGAGGTCTACATACAACAGATATCACCGAAACAGAGGAGATACATCTTCTATCTAAAATCAGGCAGCCACATATGACAGGCAAATTGTAACCTGCACAAGGGTACTGGGCCAAGGAGGAGAATGGAAGGAAAGAGCAGGGTCTGAATCCAGCCTGCATGCTCCTTGGCAAGCAGATCCTCTGCTGTAGGAATTTTGTGCCAAGGAAGGAGGCTCTTTCCCTAATTTCCACAAAAGCACCATTTGCCCCACAGAGCCTTGCAAACTGGGCCTTCCCTTCTAAACACCATTTTCTGCTCTGTACAATGGCTTCATATATACCCTGCCTTAAAACCACAGCCTTTTAAGAGTTAGGAATGCAAAATATATGCGGCCTTGGAACAATGAAATCTGTGAAGAAGCGTAAAATCTACTATTCGAGTTGAATTCAGACTTCAGGGAATAAGAAAAAAAAAAAAGAAGAAACAAAGATAGATACAGCCTTATAACCAAATGAAGAAACGTAAAAATCCTTTTGTGTTACACAAACATCTGTATCATCTGTATCCATGTGTACCACCACCTCTACTCTGGTTCCAAGAATTTCTCTAAGGTTTCTTCTCCCACTCACTTCCAAGCCAGGGCTGGTCCCAGTCCTGCCACAGGCTCACTGGTTGACTGCAAAGCAAACTCTCGGTTCCACACTCTGACCTTCCGAGCCCCTGTGCGGGAGTGGAGTCAAACACACATACACACTTAAAACATTATGATAAAAGTTGTCAATTCAGAACTATTCAAACACCTTCCTTACAAATAAAAACTGCCATGGTTTTACATAGCCAATTAGATTAATTTTGTTACAAATTTGTGTCCACCAGGTAGGAGGATGGACCAAATGGCCTCAAAGGACTCTTCTAATTCTTAACTCTAACCTCATTTCACATTTAAAGCAGCACATCCTTGCCTCATATGTATAATTAATACCCTACTCAAAGCAAAAGAAAGAAAATTTTCCTTAATTTTAATAAGATAAAAATTTTTTATTGTTGTTTAACTGCAATATATTTCCATACCTGTTTCTGGGCAAACAACACTCACAGCAAAAAACTGTCCATCCCCCCGCCAGGTAACTTGTGGTCTATGGTCATCCCAGGGCAAAGCAGACTCATGCTAAAAAGGGGAACAAACACCAATATTACTGGGGGACCTTAAGTATCCCAGAATCAAACAAGCCTCAGACCACTAGATACAGATGTTTTTTAAGAGGTTTAAGCTACTTTGAAAGCCTGCCTCTAGAATCAGAAACCATCCAAGGGTTGGTTCTTAGAACGCAGAAATCATCAAAAAGAAGAAAAAAATGTAAAACAAACAAAATCCTCCTTTCGGCATTAAAAAAAAAAAAAGTGGCCTCTGAGAACAGCAAAAGAGGAAAAGAGCTACAGATCTAGATCCTGAATATAATGAGCTAAGGAACCTATCAGGTAACTACAACAAGGAAACAAGTGTTCCATTTGTCCAACAGGGTAGAGTTTTGTTTACATATTGTGTAAGCTTCACAACAGGGCACAGATGAGTTAAGATGTGAACAAGGTGAATAGGGAGGAGCCACAGAGGTGGTAAAGGCAGCAGCAGACAATGACGAAAACATGGAAATGTTCTCATTCTGCAGCATGACGGGAAGAAACGTCTCCTCCAGGGCCACGTGTATCTCAATCCTGAAGCCAACTCTACCGGGTGGGAGACAGATGACCACCCGGGCATTCATCATCATATTCTAGTAACAGCCTAAGAATTCTGCTAGTACTGTACTGTAGTCTGCACAGTAGGGAATACATAGGTAGCCTAACAAAATTTATTCTCAATGAAACTGTCCTAGGGTATAGAAACCAAACCTCCTTTACTGAAGGGTTAAGGCCTGAAATAGGCATTATATGAAATAGAACTGGAAATAATTAAGGACAGAAAACGTAGATGGCAAGCAGGGTATTATTGAGTCATCTATTCTAGAAGAGTAGCTCATAGAAATTTCTACATATAATTATGCTTCCATTTGTTCAGGCCCAACCCTTGGTATCCTCCTCAATTCCTCCCTCTCACCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTTTATGGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACCGCAACCTCTGCCTCCCAGGTACAAGTGATTCTACTACCTTAGCTTCTCAAGTAGCTGAGATTACAGGCATCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATAGGATTTCACCATGTTGGACATGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCAACTTGGCCTCCCAAAGTGCTGGGATTGCAGGCATCAGCCACTGTGCCCAGCTAAATGCAACCTCTTGAATCAGTGTTACTGGGCACTAGGAGAGCCCAGGCAGGGAACAGGCTGAGGGCTAGAATAACACAACTTAAAAAATCAAAGTAAATTATGCTCACATGAGTACTTGTATCTGCCTACTCCATGGATTTTTGTTTTCTTTTCTGAAGGGTAGCTGTGAACTTTCAAACCAAGACGAGGCCCTAGAAAGCCTTTAGAAAAAGTTCATGAAAAAAAGCTAGAGTAGTTTACTGGATAGTACATTAGATAACAGGATGCTCGGTTTTTTTCCCCCATTACCTGGATCATCCTATACCATTAATAAACCCTAATTTTGTTAATACTAGA | ATTAAACTCGTCTCTCAACTTAGGATGTTTAAAATTTTACACAGAGATACCATTTGATGTGTTCTCACTTCAGCAAGAATCTTAATGGTATACAAACCACTTAAGATTTAAATGTTATAAATGAAAAACATCTTCATTACTGGAAAAATTATGCTTTTGTCAAAATAAACAATAAAAACTAGCATTTTTATTTCCTACTTCTGTTTTATCTAAGGTGGGGGACAAATGCTATTATTTGCAAAATCACTGGAAAAACAATATTTTATTAAATAAAAATCAGTTCTAGGAAGCCACCATTTTTATTACTATTTACTCTAAAGCTACTATTTATATATCCATATCAAATATAAATCCCCTCTATAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACCTGAGGTCAGGGGTTTGAGACCAGCCTGACCAACACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGCTGTGGTGGCGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAACCGAGATTGCACTATCGCACTCCAACCTGGGCAACAAGAATGAAACTCCATCTCAAAAAAAAAAAAAAAAAATTCCCTCTATAGCTATGGAAAGTCCTCTACATTCGAGGGTGAAACAAACTCAGGCACTTACCTTAACCTCATCTTTAAGGAAGGGAAGTGTAAAGTGTCCATGAAGGAGTCCATTTTTCTCAAAAAACACAATATCCTGCTGGTTGGGTTTATCTTGTGTAGATGCAATCAAACTGCCTGAGGGTCTTAAAGCAAACTCAGAGTGTTACAATATCGAAAGCTCACCTAACTAAAGAATAGATAAAATCCAGAAGAGTTTTTTTTCCAGCAAACATGAATGAATGAATGAACGAATTAATGAATATCTTTATCCAAGGAAGTTTTAAATCCCATGTGTCCCTTGTCTCTCGGCGAGCGGTTCATCCCACTGTGGGACTGTACTTGCCCAGAGGAAAGAGTGCCTTTTCCTGTTTTACACAGAGGCTCCATTTGCCCACAAAACCTTACATATTTACATTGCATTTGGATGACTTTAAAAATAATAAGTTATCTAAACCATTCCAGGTATAATGTCCTAAAAATCAAAATCTATTTCTCCTTCCATTATACAACTTCAGCAAATATTCTATGCTCCAGTAGGTCTTTTTTAAGACTTCACCAAATGTTGAAAACATCTTAATTGCCTCATCTTATTCATATTTGTCTCTAGGGTTTTAATTCAAATACATTTCTCTTCTGCTCTATCATATAATACCATTCAGATACTGGTGGGAAACAAGAGGTCTACATACAACAGATATCACCGAAACAGAGGAGATACATCTTCTATCTAAAATCAGGCAGCCACATATGACAGGCAAATTGTAACCTGCACAAGGGTACTGGGCCAAGGAGGAGAATGGAAGGAAAGAGCAGGGTCTGAATCCAGCCTGCATGCTCCTTGGCAAGCAGATCCTCTGCTGTAGGAATTTTGTGCCAAGGAAGGAGGCTCTTTCCCTAATTTCCACAAAAGCACCATTTGCCCCACAGAGCCTTGCAAACTGGGCCTTCCCTTCTAAACACCATTTTCTGCTCTGTACAATGGCTTCATATATACCCTGCCTTAAAACCACAGCCTTTTAAGAGTTAGGAATGCAAAATATATGCGGCCTTGGAACAATGAAATCTGTGAAGAAGCGTAAAATCTACTATTCGAGTTGAATTCAGACTTCAGGGAATAAGAAAAAAAAAAAAGAAGAAACAAAGATAGATACAGCCTTATAACCAAATGAAGAAACGTAAAAATCCTTTTGTGTTACACAAACATCTGTATCATCTGTATCCATGTGTACCACCACCTCTACTCTGGTTCCAAGAATTTCTCTAAGGTTTCTTCTCCCACTCACTTCCAAGCCAGGGCTGGTCCCAGTCCTGCCACAGGCTCACTGGTTGACTGCAAAGCAAACTCTCCACACTCTGACCTTCCGAGCCCCTGTGCGGGAGTGGAGTCAAACACACATACACACTTAAAACATTATGATAAAAGTTGTCAATTCAGAACTATTCAAACACCTTCCTTACAAATAAAAACTGCCATGGTTTTACATAGCCAATTAGATTAATTTTGTTACAAATTTGTGTCCACCAGGTAGGAGGATGGACCAAATGGCCTCAAAGGACTCTTCTAATTCTTAACTCTAACCTCATTTCACATTTAAAGCAGCACATCCTTGCCTCATATGTATAATTAATACCCTACTCAAAGCAAAAGAAAGAAAATTTTCCTTAATTTTAATAAGATAAAAATTTTTTATTGTTGTTTAACTGCAATATATTTCCATACCTGTTTCTGGGCAAACAACACTCACAGCAAAAAACTGTCCATCCCCCCGCCAGGTAACTTGTGGTCTATGGTCATCCCAGGGCAAAGCAGACTCATGCTAAAAAGGGGAACAAACACCAATATTACTGGGGGACCTTAAGTATCCCAGAATCAAACAAGCCTCAGACCACTAGATACAGATGTTTTTTAAGAGGTTTAAGCTACTTTGAAAGCCTGCCTCTAGAATCAGAAACCATCCAAGGGTTGGTTCTTAGAACGCAGAAATCATCAAAAAGAAGAAAAAAATGTAAAACAAACAAAATCCTCCTTTCGGCATTAAAAAAAAAAAAAGTGGCCTCTGAGAACAGCAAAAGAGGAAAAGAGCTACAGATCTAGATCCTGAATATAATGAGCTAAGGAACCTATCAGGTAACTACAACAAGGAAACAAGTGTTCCATTTGTCCAACAGGGTAGAGTTTTGTTTACATATTGTGTAAGCTTCACAACAGGGCACAGATGAGTTAAGATGTGAACAAGGTGAATAGGGAGGAGCCACAGAGGTGGTAAAGGCAGCAGCAGACAATGACGAAAACATGGAAATGTTCTCATTCTGCAGCATGACGGGAAGAAACGTCTCCTCCAGGGCCACGTGTATCTCAATCCTGAAGCCAACTCTACCGGGTGGGAGACAGATGACCACCCGGGCATTCATCATCATATTCTAGTAACAGCCTAAGAATTCTGCTAGTACTGTACTGTAGTCTGCACAGTAGGGAATACATAGGTAGCCTAACAAAATTTATTCTCAATGAAACTGTCCTAGGGTATAGAAACCAAACCTCCTTTACTGAAGGGTTAAGGCCTGAAATAGGCATTATATGAAATAGAACTGGAAATAATTAAGGACAGAAAACGTAGATGGCAAGCAGGGTATTATTGAGTCATCTATTCTAGAAGAGTAGCTCATAGAAATTTCTACATATAATTATGCTTCCATTTGTTCAGGCCCAACCCTTGGTATCCTCCTCAATTCCTCCCTCTCACCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTTTATGGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACCGCAACCTCTGCCTCCCAGGTACAAGTGATTCTACTACCTTAGCTTCTCAAGTAGCTGAGATTACAGGCATCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATAGGATTTCACCATGTTGGACATGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCAACTTGGCCTCCCAAAGTGCTGGGATTGCAGGCATCAGCCACTGTGCCCAGCTAAATGCAACCTCTTGAATCAGTGTTACTGGGCACTAGGAGAGCCCAGGCAGGGAACAGGCTGAGGGCTAGAATAACACAACTTAAAAAATCAAAGTAAATTATGCTCACATGAGTACTTGTATCTGCCTACTCCATGGATTTTTGTTTTCTTTTCTGAAGGGTAGCTGTGAACTTTCAAACCAAGACGAGGCCCTAGAAAGCCTTTAGAAAAAGTTCATGAAAAAAAGCTAGAGTAGTTTACTGGATAGTACATTAGATAACAGGATGCTCGGTTTTTTTCCCCCATTACCTGGATCATCCTATACCATTAATAAACCCTAATTTTGTTAATACTAGANNNNN | pathogenic | 148,963 |
Is the chromosome 9, position 108919260 variant in ELP1 (elongator acetyltransferase complex subunit 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_dysautonomia', 'Medulloblastoma', 'likely other unspecified diseases'] | AATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACCTGAGGTCAGGGGTTTGAGACCAGCCTGACCAACACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGCTGTGGTGGCGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAACCGAGATTGCACTATCGCACTCCAACCTGGGCAACAAGAATGAAACTCCATCTCAAAAAAAAAAAAAAAAAATTCCCTCTATAGCTATGGAAAGTCCTCTACATTCGAGGGTGAAACAAACTCAGGCACTTACCTTAACCTCATCTTTAAGGAAGGGAAGTGTAAAGTGTCCATGAAGGAGTCCATTTTTCTCAAAAAACACAATATCCTGCTGGTTGGGTTTATCTTGTGTAGATGCAATCAAACTGCCTGAGGGTCTTAAAGCAAACTCAGAGTGTTACAATATCGAAAGCTCACCTAACTAAAGAATAGATAAAATCCAGAAGAGTTTTTTTTCCAGCAAACATGAATGAATGAATGAACGAATTAATGAATATCTTTATCCAAGGAAGTTTTAAATCCCATGTGTCCCTTGTCTCTCGGCGAGCGGTTCATCCCACTGTGGGACTGTACTTGCCCAGAGGAAAGAGTGCCTTTTCCTGTTTTACACAGAGGCTCCATTTGCCCACAAAACCTTACATATTTACATTGCATTTGGATGACTTTAAAAATAATAAGTTATCTAAACCATTCCAGGTATAATGTCCTAAAAATCAAAATCTATTTCTCCTTCCATTATACAACTTCAGCAAATATTCTATGCTCCAGTAGGTCTTTTTTAAGACTTCACCAAATGTTGAAAACATCTTAATTGCCTCATCTTATTCATATTTGTCTCTAGGGTTTTAATTCAAATACATTTCTCTTCTGCTCTATCATATAATACCATTCAGATACTGGTGGGAAACAAGAGGTCTACATACAACAGATATCACCGAAACAGAGGAGATACATCTTCTATCTAAAATCAGGCAGCCACATATGACAGGCAAATTGTAACCTGCACAAGGGTACTGGGCCAAGGAGGAGAATGGAAGGAAAGAGCAGGGTCTGAATCCAGCCTGCATGCTCCTTGGCAAGCAGATCCTCTGCTGTAGGAATTTTGTGCCAAGGAAGGAGGCTCTTTCCCTAATTTCCACAAAAGCACCATTTGCCCCACAGAGCCTTGCAAACTGGGCCTTCCCTTCTAAACACCATTTTCTGCTCTGTACAATGGCTTCATATATACCCTGCCTTAAAACCACAGCCTTTTAAGAGTTAGGAATGCAAAATATATGCGGCCTTGGAACAATGAAATCTGTGAAGAAGCGTAAAATCTACTATTCGAGTTGAATTCAGACTTCAGGGAATAAGAAAAAAAAAAAAGAAGAAACAAAGATAGATACAGCCTTATAACCAAATGAAGAAACGTAAAAATCCTTTTGTGTTACACAAACATCTGTATCATCTGTATCCATGTGTACCACCACCTCTACTCTGGTTCCAAGAATTTCTCTAAGGTTTCTTCTCCCACTCACTTCCAAGCCAGGGCTGGTCCCAGTCCTGCCACAGGCTCACTGGTTGACTGCAAAGCAAACTCTCGGTTCCACACTCTGACCTTCCGAGCCCCTGTGCGGGAGTGGAGTCAAACACACATACACACTTAAAACATTATGATAAAAGTTGTCAATTCAGAACTATTCAAACACCTTCCTTACAAATAAAAACTGCCATGGTTTTACATAGCCAATTAGATTAATTTTGTTACAAATTTGTGTCCACCAGGTAGGAGGATGGACCAAATGGCCTCAAAGGACTCTTCTAATTCTTAACTCTAACCTCATTTCACATTTAAAGCAGCACATCCTTGCCTCATATGTATAATTAATACCCTACTCAAAGCAAAAGAAAGAAAATTTTCCTTAATTTTAATAAGATAAAAATTTTTTATTGTTGTTTAACTGCAATATATTTCCATACCTGTTTCTGGGCAAACAACACTCACAGCAAAAAACTGTCCATCCCCCCGCCAGGTAACTTGTGGTCTATGGTCATCCCAGGGCAAAGCAGACTCATGCTAAAAAGGGGAACAAACACCAATATTACTGGGGGACCTTAAGTATCCCAGAATCAAACAAGCCTCAGACCACTAGATACAGATGTTTTTTAAGAGGTTTAAGCTACTTTGAAAGCCTGCCTCTAGAATCAGAAACCATCCAAGGGTTGGTTCTTAGAACGCAGAAATCATCAAAAAGAAGAAAAAAATGTAAAACAAACAAAATCCTCCTTTCGGCATTAAAAAAAAAAAAAGTGGCCTCTGAGAACAGCAAAAGAGGAAAAGAGCTACAGATCTAGATCCTGAATATAATGAGCTAAGGAACCTATCAGGTAACTACAACAAGGAAACAAGTGTTCCATTTGTCCAACAGGGTAGAGTTTTGTTTACATATTGTGTAAGCTTCACAACAGGGCACAGATGAGTTAAGATGTGAACAAGGTGAATAGGGAGGAGCCACAGAGGTGGTAAAGGCAGCAGCAGACAATGACGAAAACATGGAAATGTTCTCATTCTGCAGCATGACGGGAAGAAACGTCTCCTCCAGGGCCACGTGTATCTCAATCCTGAAGCCAACTCTACCGGGTGGGAGACAGATGACCACCCGGGCATTCATCATCATATTCTAGTAACAGCCTAAGAATTCTGCTAGTACTGTACTGTAGTCTGCACAGTAGGGAATACATAGGTAGCCTAACAAAATTTATTCTCAATGAAACTGTCCTAGGGTATAGAAACCAAACCTCCTTTACTGAAGGGTTAAGGCCTGAAATAGGCATTATATGAAATAGAACTGGAAATAATTAAGGACAGAAAACGTAGATGGCAAGCAGGGTATTATTGAGTCATCTATTCTAGAAGAGTAGCTCATAGAAATTTCTACATATAATTATGCTTCCATTTGTTCAGGCCCAACCCTTGGTATCCTCCTCAATTCCTCCCTCTCACCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTTTATGGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACCGCAACCTCTGCCTCCCAGGTACAAGTGATTCTACTACCTTAGCTTCTCAAGTAGCTGAGATTACAGGCATCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATAGGATTTCACCATGTTGGACATGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCAACTTGGCCTCCCAAAGTGCTGGGATTGCAGGCATCAGCCACTGTGCCCAGCTAAATGCAACCTCTTGAATCAGTGTTACTGGGCACTAGGAGAGCCCAGGCAGGGAACAGGCTGAGGGCTAGAATAACACAACTTAAAAAATCAAAGTAAATTATGCTCACATGAGTACTTGTATCTGCCTACTCCATGGATTTTTGTTTTCTTTTCTGAAGGGTAGCTGTGAACTTTCAAACCAAGACGAGGCCCTAGAAAGCCTTTAGAAAAAGTTCATGAAAAAAAGCTAGAGTAGTTTACTGGATAGTACATTAGATAACAGGATGCTCGGTTTTTTTCCCCCATTACCTGGATCATCCTATACCATTAATAAACCCTAATTTTGTTAATACTAGATAAGTCTTACTCTAGCAGGTACCAGTAGTAAAGTGTCATCTTCTCCAGAGTTTAACAAAGTATGGAAAACTGCCTTATTTTCAAAACTACCATAGATTCCTTTAAAGTACTATTTTTTAACACCTTTACTGGGATATAATTTACATATTATTAAGGTTCACCCATTTGAAGTACACAATTCAATGCACCTTGGGATTTTTTTTTGGTTGTTTAAACTCAGTGGTAAGAATCAATGTTTTTAAAGTATATTTACAAAGTTGAATAGCCATCACCATAATCTAAATTTTGAGCATTTTCATCATCCCCAAAAGAAACCCCATATCCATTAGCAGTCACCCCTTCCCCACCCCACCCCACAGCCCTACCCAACCACTACTCTACTTTCTGC | AATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACCTGAGGTCAGGGGTTTGAGACCAGCCTGACCAACACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGCTGTGGTGGCGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAACCGAGATTGCACTATCGCACTCCAACCTGGGCAACAAGAATGAAACTCCATCTCAAAAAAAAAAAAAAAAAATTCCCTCTATAGCTATGGAAAGTCCTCTACATTCGAGGGTGAAACAAACTCAGGCACTTACCTTAACCTCATCTTTAAGGAAGGGAAGTGTAAAGTGTCCATGAAGGAGTCCATTTTTCTCAAAAAACACAATATCCTGCTGGTTGGGTTTATCTTGTGTAGATGCAATCAAACTGCCTGAGGGTCTTAAAGCAAACTCAGAGTGTTACAATATCGAAAGCTCACCTAACTAAAGAATAGATAAAATCCAGAAGAGTTTTTTTTCCAGCAAACATGAATGAATGAATGAACGAATTAATGAATATCTTTATCCAAGGAAGTTTTAAATCCCATGTGTCCCTTGTCTCTCGGCGAGCGGTTCATCCCACTGTGGGACTGTACTTGCCCAGAGGAAAGAGTGCCTTTTCCTGTTTTACACAGAGGCTCCATTTGCCCACAAAACCTTACATATTTACATTGCATTTGGATGACTTTAAAAATAATAAGTTATCTAAACCATTCCAGGTATAATGTCCTAAAAATCAAAATCTATTTCTCCTTCCATTATACAACTTCAGCAAATATTCTATGCTCCAGTAGGTCTTTTTTAAGACTTCACCAAATGTTGAAAACATCTTAATTGCCTCATCTTATTCATATTTGTCTCTAGGGTTTTAATTCAAATACATTTCTCTTCTGCTCTATCATATAATACCATTCAGATACTGGTGGGAAACAAGAGGTCTACATACAACAGATATCACCGAAACAGAGGAGATACATCTTCTATCTAAAATCAGGCAGCCACATATGACAGGCAAATTGTAACCTGCACAAGGGTACTGGGCCAAGGAGGAGAATGGAAGGAAAGAGCAGGGTCTGAATCCAGCCTGCATGCTCCTTGGCAAGCAGATCCTCTGCTGTAGGAATTTTGTGCCAAGGAAGGAGGCTCTTTCCCTAATTTCCACAAAAGCACCATTTGCCCCACAGAGCCTTGCAAACTGGGCCTTCCCTTCTAAACACCATTTTCTGCTCTGTACAATGGCTTCATATATACCCTGCCTTAAAACCACAGCCTTTTAAGAGTTAGGAATGCAAAATATATGCGGCCTTGGAACAATGAAATCTGTGAAGAAGCGTAAAATCTACTATTCGAGTTGAATTCAGACTTCAGGGAATAAGAAAAAAAAAAAAGAAGAAACAAAGATAGATACAGCCTTATAACCAAATGAAGAAACGTAAAAATCCTTTTGTGTTACACAAACATCTGTATCATCTGTATCCATGTGTACCACCACCTCTACTCTGGTTCCAAGAATTTCTCTAAGGTTTCTTCTCCCACTCACTTCCAAGCCAGGGCTGGTCCCAGTCCTGCCACAGGCTCACTGGTTGACTGCAAAGCAAACTCTCGGTTCCACACTCTGACCTTCCGAGCCCCTGTGCGGGAGTGGAGTCAAACACACATACACACTTAAAACATTATGATAAAAGTTGTCAATTCAGAACTATTCAAACACCTTCCTTACAAATAAAAACTGCCATGGTTTTACATAGCCAATTAGATTAATTTTGTTACAAATTTGTGTCCACCAGGTAGGAGGATGGACCAAATGGCCTCAAAGGACTCTTCTAATTCTTAACTCTAACCTCATTTCACATTTAAAGCAGCACATCCTTGCCTCATATGTATAATTAATACCCTACTCAAAGCAAAAGAAAGAAAATTTTCCTTAATTTTAATAAGATAAAAATTTTTTATTGTTGTTTAACTGCAATATATTTCCATACCTGTTTCTGGCAAACAACACTCACAGCAAAAAACTGTCCATCCCCCCGCCAGGTAACTTGTGGTCTATGGTCATCCCAGGGCAAAGCAGACTCATGCTAAAAAGGGGAACAAACACCAATATTACTGGGGGACCTTAAGTATCCCAGAATCAAACAAGCCTCAGACCACTAGATACAGATGTTTTTTAAGAGGTTTAAGCTACTTTGAAAGCCTGCCTCTAGAATCAGAAACCATCCAAGGGTTGGTTCTTAGAACGCAGAAATCATCAAAAAGAAGAAAAAAATGTAAAACAAACAAAATCCTCCTTTCGGCATTAAAAAAAAAAAAAGTGGCCTCTGAGAACAGCAAAAGAGGAAAAGAGCTACAGATCTAGATCCTGAATATAATGAGCTAAGGAACCTATCAGGTAACTACAACAAGGAAACAAGTGTTCCATTTGTCCAACAGGGTAGAGTTTTGTTTACATATTGTGTAAGCTTCACAACAGGGCACAGATGAGTTAAGATGTGAACAAGGTGAATAGGGAGGAGCCACAGAGGTGGTAAAGGCAGCAGCAGACAATGACGAAAACATGGAAATGTTCTCATTCTGCAGCATGACGGGAAGAAACGTCTCCTCCAGGGCCACGTGTATCTCAATCCTGAAGCCAACTCTACCGGGTGGGAGACAGATGACCACCCGGGCATTCATCATCATATTCTAGTAACAGCCTAAGAATTCTGCTAGTACTGTACTGTAGTCTGCACAGTAGGGAATACATAGGTAGCCTAACAAAATTTATTCTCAATGAAACTGTCCTAGGGTATAGAAACCAAACCTCCTTTACTGAAGGGTTAAGGCCTGAAATAGGCATTATATGAAATAGAACTGGAAATAATTAAGGACAGAAAACGTAGATGGCAAGCAGGGTATTATTGAGTCATCTATTCTAGAAGAGTAGCTCATAGAAATTTCTACATATAATTATGCTTCCATTTGTTCAGGCCCAACCCTTGGTATCCTCCTCAATTCCTCCCTCTCACCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTTTATGGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACCGCAACCTCTGCCTCCCAGGTACAAGTGATTCTACTACCTTAGCTTCTCAAGTAGCTGAGATTACAGGCATCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATAGGATTTCACCATGTTGGACATGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCAACTTGGCCTCCCAAAGTGCTGGGATTGCAGGCATCAGCCACTGTGCCCAGCTAAATGCAACCTCTTGAATCAGTGTTACTGGGCACTAGGAGAGCCCAGGCAGGGAACAGGCTGAGGGCTAGAATAACACAACTTAAAAAATCAAAGTAAATTATGCTCACATGAGTACTTGTATCTGCCTACTCCATGGATTTTTGTTTTCTTTTCTGAAGGGTAGCTGTGAACTTTCAAACCAAGACGAGGCCCTAGAAAGCCTTTAGAAAAAGTTCATGAAAAAAAGCTAGAGTAGTTTACTGGATAGTACATTAGATAACAGGATGCTCGGTTTTTTTCCCCCATTACCTGGATCATCCTATACCATTAATAAACCCTAATTTTGTTAATACTAGATAAGTCTTACTCTAGCAGGTACCAGTAGTAAAGTGTCATCTTCTCCAGAGTTTAACAAAGTATGGAAAACTGCCTTATTTTCAAAACTACCATAGATTCCTTTAAAGTACTATTTTTTAACACCTTTACTGGGATATAATTTACATATTATTAAGGTTCACCCATTTGAAGTACACAATTCAATGCACCTTGGGATTTTTTTTTGGTTGTTTAAACTCAGTGGTAAGAATCAATGTTTTTAAAGTATATTTACAAAGTTGAATAGCCATCACCATAATCTAAATTTTGAGCATTTTCATCATCCCCAAAAGAAACCCCATATCCATTAGCAGTCACCCCTTCCCCACCCCACCCCACAGCCCTACCCAACCACTACTCTACTTTCTGCN | pathogenic | 148,966 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 9, position 108929816, gene ELP1 (elongator acetyltransferase complex subunit 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_dysautonomia'] | GTGAAATAAACCAGACACAAAAAGACAAACATCACATGTTCTCACTTATTTGTGCGATCTAAAAATCAAAACAATTGAACTCACGGACACAGAGAGTACAAGGATGGTTACCAGAGGCTGGGAAGGGTAGTGAGGGGCTGAGGGAAGTTGGGATGGTTAATAGGTACAAAAAAAAATAGAATAAATAAGACCTGCTATTTGATAGCACAACAAGGTAACTACAGTCAACAGTAATTGCACATTTTAAAATAACTAAAAGACTGTAATTGGATTGTTTGTAACACAAAGGATAAACGCTTGATGGGATGGATATCCTATTCTCCATGATGTGGTTATTTTGCACTGCATGCCTGTATCAGAACATCTCATGTAGCCCATAAATATATGTACCTACTATGTACTCATAAAAATTAAAAATTTATATTTAAAAATTAAAACAAGAACTTACTCAACAAACATTTCTTCAGTAATGGATATCAAGAGAATAGACCTGTTATTAGGCACAGGGATTAGAAATAAATATCTTTTTCTTCCCAGAGCTGTCTCACGAGGGAGATAAAAGAAGACCCTACAGAGGATAACAGCAATGACCAAGATCTCTGGAAAGCAAAATGCGTCTCAGCACAGGGAATGACAAGTGGCCCAAAGTCCAGAAAAAGTTTTTCTGACGTGTTTCAAAGAGTGGTAATAAGGACAGGAAAGAGAGACCAGGAAGAAAACACAGTGTAGAGGCACAAAGCCAGAAAAAAGAGCAGTTAAAAATCAGCTGCAACTAAAACATAAGGTTTACGTACACACAGGAACAATGGGGGGATGAGGCTAAAAAGGAATGTGGGGAACAGATAGTGAAAGGGGCTTATAAGGCACAATAGTGGGCTCTACCTTTCAGACAATTGAGAAGCCACTAAAGGGCAGAATCAGCACCATTAAATGAAGATAAATAGACTGGAAGAGCTCAGTAACCAGGAAACAATGCTACAAAATGTTTGGAAAGTAAAAGCATCTATCTTTCAAATACGAAAAAAAAACAAGCTGTATATGACAAGTTTGATATTTCCCACCATGAACTGCAAGTAAAGGTTTATGATTGTACTAAATGGAATGGTTAAGAGCAGAGGTGCCAGATTTAGACTGCTAGGGTCAAACCCCATTTGATTACTGTGTGACCCTGGTCTAATTACTTAAGCACTCTGTGCCTTAACTGCCTCTTCTGAAGAATAGGAAACAACAACCTACTGCATAAGGTCATGGTGAAGATTAAATAAATTTGCATGAAAAGCACTTTAAAAAGTGCCAGGCACATGATAGTTAATAAATGTAAGCTGCTATCATTATCCTACTATTAGTAATACTCTAACTTCTGTGACATAATCAATGTTAAGGAGATCACAACTAATGAAGTAATGGAAGAAGATTTAAAGAATCAGCCAAGTGTAATTTGAAACCCTTGCTGTTAAGAAGGTGAGGATAGAAATCAGAAACTCAACTATACACTAAAGTAGAGAAAGAAGCAATTGCTTGAAGTCTAGCTCTACTGGCAGTCATCACATGTGCAGGTAATGACAATGTATTTACTTTAGTGCCTAGACTTCAGGGACTCTAAATTTAGCCAATCAACATTCATAACAGAAAATCTAAGTCAGATAAACAAAGACTTCCTAAATTGAGAAACAAAGGTTGCAACTCAAGATGAGGGTCTGATAAGAGGTGATCTACACCACATAAGAATAGCCAGTTTTAACTTTTAAAAAAATATATTCTCATTTGGAACATTCTGATCACTCTGATTAATAGATGCAGCAGACAAAACTCAGTTTTAGAAGAATCTTAACATATAGATAAAGCCATGTTAACAATTTTTTAAATAAAGAAATATATAATGCAAAAATTAATTAGCAAAAGTGTAACTATTATGGCTACTGATTTGAAAACTTCCACAAATAGCAAGTAACCTATTTGAGGATGCTTGAGACTCCCCCCTCACTGGAGTCTTCCACTTACCTGTTGTGTGCTGAGACTGCAGAGTATGACGTCTCCAGAGGCTGTGGCCACACACACAGACTCCTGATCCAGCAAGTCCTGAACACCAACAATGCGGCCACTTCCATCCTCTGGGAGAAAGCCTTCTGCCACCAAAGAAACTTCATTTTTCACCTTTCACCAAAGTAAACACAAGCAAATTAACCCAGTCTACTTTCAAGAATAATTGATAACATTTCCAGAAATACTTTTTAATGCTTCTTTTATTACATAAAAGCTTTCAAAAATATTTTTTCTAGATGAAAATCCAAACTTTCATTTGAGAAATATCACTACTCTGTCATCTCTAACAAGAAAAATAGGTAATGTGACCTTTTTGCCAAACAAACACAAAAACAAAAACAATAAGCCTGGTCTCTTTAAAATTGTCCACTAAAATATGATGCTAATAGCTATGCTTTTCTAAGATTTCTATAGTATGGGGAAAAGGCACTAAAGGATGTAACTGCCTAAAATGTATTAGTAGAAGAACATAATCAAGGGACCATATCAAAACCAACCCACAGAGGTTTTTAAAGTACATATAGTTAGGAGCCAACACTAAAGATTCTGATTTAGTTGACATGAGATGTGGGCTCAAACTTTTAGAAAGCTCCATGGGCAACTTTCGTGTTCATTCCCAATTAAAAACCACTCTTGGCCGGGCGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCGCACATCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGGAGGCGGAGCTTGCAGTGAGCCACGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACCACTCTTATAAACAGAATTTGCATGACAAAGAGGGTAAAAAGTACGGCACACACTCAAAAAGTAAGGTCAGAGTTCTACTGACTTAGGTTAAAATAGCAGCAGAGTTAAAGAAGGATTACGATTTAAGCTATGTCTAACATGGCATATATATGAAGCAAAAGATGTTTATTTGGGAGGATATAAATTCAATAAGATATAAAGAAAGACCATGTGGGGAAAGAAATTTGGAAGAAGAGAAATCAAGGGTCATACCCACATGCTGGCATTCTACATCAGTAACTTACTTCTCTTGAGACAGGGTCTACTTCTATCAGGCCATGTTCTGAACCAATGAGCACCGTCCCCTGTTCAGTTCGGAGAGAGAAGCACTGAGGATTCCCTGGACCTTGAATATCCCTGAACTCCAGGGTCCGAAATAATTTCAGATTTCGCATGATGAAGTGATTCCCACGAGACAAGTACAACTATCCCTTGATGAATCATTAATCTCTAAGAGAAAAATAAATAGCTTAATAGTGATAAATGACCATATTTATTTAAATGAAATGATTCAGGGGGTGAAGAAGTGGTAGTCAGAATCAGAATAACCAAGAAAAGAAAAAACTTACCTCTCTGAGTACACACCCATGTATGGATTATAGCAGCAACCTGACCCACTCTATACAGTTATGGTCTACAAATTAGGAATTCTGAAACCTATTTTATGTTCTTTTTAGGAGAGGCAAGATTCTCAACTTTAGAATGTTTTCTTCAAAAAAGATGTAATATCAGTTATTCCTTTGGGAAAGTTGAAAGAACAAATGAATGGGGAAACATTTTATTTTTGCATATTAGGACATCTTTATAAAATCATGAGGAAAAACAAAAGGGTATCCCACTGATTAGCACTATTTGAAAATCCATTTTTATATACTGGCAGTTGAAGAGAATCTGAAATGACTTTAATATTCACCAGGTCTATTCATTTATAAACTGGTTTTATACATTCATAAAAAAACTGAAATCAAAGATAGAAAAGCATTTACTGTTCTAAAGGGGAAGAGAAAATACTGGGACATGACAACAATTTACTTCAAAATGATGACCAACATTTCAAGGACCCTGATGACCTGACATAACTACTTCCAGTAACTTTGTTCTTCTGGCCAGGC | GTGAAATAAACCAGACACAAAAAGACAAACATCACATGTTCTCACTTATTTGTGCGATCTAAAAATCAAAACAATTGAACTCACGGACACAGAGAGTACAAGGATGGTTACCAGAGGCTGGGAAGGGTAGTGAGGGGCTGAGGGAAGTTGGGATGGTTAATAGGTACAAAAAAAAATAGAATAAATAAGACCTGCTATTTGATAGCACAACAAGGTAACTACAGTCAACAGTAATTGCACATTTTAAAATAACTAAAAGACTGTAATTGGATTGTTTGTAACACAAAGGATAAACGCTTGATGGGATGGATATCCTATTCTCCATGATGTGGTTATTTTGCACTGCATGCCTGTATCAGAACATCTCATGTAGCCCATAAATATATGTACCTACTATGTACTCATAAAAATTAAAAATTTATATTTAAAAATTAAAACAAGAACTTACTCAACAAACATTTCTTCAGTAATGGATATCAAGAGAATAGACCTGTTATTAGGCACAGGGATTAGAAATAAATATCTTTTTCTTCCCAGAGCTGTCTCACGAGGGAGATAAAAGAAGACCCTACAGAGGATAACAGCAATGACCAAGATCTCTGGAAAGCAAAATGCGTCTCAGCACAGGGAATGACAAGTGGCCCAAAGTCCAGAAAAAGTTTTTCTGACGTGTTTCAAAGAGTGGTAATAAGGACAGGAAAGAGAGACCAGGAAGAAAACACAGTGTAGAGGCACAAAGCCAGAAAAAAGAGCAGTTAAAAATCAGCTGCAACTAAAACATAAGGTTTACGTACACACAGGAACAATGGGGGGATGAGGCTAAAAAGGAATGTGGGGAACAGATAGTGAAAGGGGCTTATAAGGCACAATAGTGGGCTCTACCTTTCAGACAATTGAGAAGCCACTAAAGGGCAGAATCAGCACCATTAAATGAAGATAAATAGACTGGAAGAGCTCAGTAACCAGGAAACAATGCTACAAAATGTTTGGAAAGTAAAAGCATCTATCTTTCAAATACGAAAAAAAAACAAGCTGTATATGACAAGTTTGATATTTCCCACCATGAACTGCAAGTAAAGGTTTATGATTGTACTAAATGGAATGGTTAAGAGCAGAGGTGCCAGATTTAGACTGCTAGGGTCAAACCCCATTTGATTACTGTGTGACCCTGGTCTAATTACTTAAGCACTCTGTGCCTTAACTGCCTCTTCTGAAGAATAGGAAACAACAACCTACTGCATAAGGTCATGGTGAAGATTAAATAAATTTGCATGAAAAGCACTTTAAAAAGTGCCAGGCACATGATAGTTAATAAATGTAAGCTGCTATCATTATCCTACTATTAGTAATACTCTAACTTCTGTGACATAATCAATGTTAAGGAGATCACAACTAATGAAGTAATGGAAGAAGATTTAAAGAATCAGCCAAGTGTAATTTGAAACCCTTGCTGTTAAGAAGGTGAGGATAGAAATCAGAAACTCAACTATACACTAAAGTAGAGAAAGAAGCAATTGCTTGAAGTCTAGCTCTACTGGCAGTCATCACATGTGCAGGTAATGACAATGTATTTACTTTAGTGCCTAGACTTCAGGGACTCTAAATTTAGCCAATCAACATTCATAACAGAAAATCTAAGTCAGATAAACAAAGACTTCCTAAATTGAGAAACAAAGGTTGCAACTCAAGATGAGGGTCTGATAAGAGGTGATCTACACCACATAAGAATAGCCAGTTTTAACTTTTAAAAAAATATATTCTCATTTGGAACATTCTGATCACTCTGATTAATAGATGCAGCAGACAAAACTCAGTTTTAGAAGAATCTTAACATATAGATAAAGCCATGTTAACAATTTTTTAAATAAAGAAATATATAATGCAAAAATTAATTAGCAAAAGTGTAACTATTATGGCTACTGATTTGAAAACTTCCACAAATAGCAAGTAACCTATTTGAGGATGCTTGAGACTCCCCCCTCACTGGAGTCTTCCACTTACCTGTTGTGTGCTGAGACTGCAGAGTATGACGTCTCCAGAGGCTGTGGCCACACAGACTCCTGATCCAGCAAGTCCTGAACACCAACAATGCGGCCACTTCCATCCTCTGGGAGAAAGCCTTCTGCCACCAAAGAAACTTCATTTTTCACCTTTCACCAAAGTAAACACAAGCAAATTAACCCAGTCTACTTTCAAGAATAATTGATAACATTTCCAGAAATACTTTTTAATGCTTCTTTTATTACATAAAAGCTTTCAAAAATATTTTTTCTAGATGAAAATCCAAACTTTCATTTGAGAAATATCACTACTCTGTCATCTCTAACAAGAAAAATAGGTAATGTGACCTTTTTGCCAAACAAACACAAAAACAAAAACAATAAGCCTGGTCTCTTTAAAATTGTCCACTAAAATATGATGCTAATAGCTATGCTTTTCTAAGATTTCTATAGTATGGGGAAAAGGCACTAAAGGATGTAACTGCCTAAAATGTATTAGTAGAAGAACATAATCAAGGGACCATATCAAAACCAACCCACAGAGGTTTTTAAAGTACATATAGTTAGGAGCCAACACTAAAGATTCTGATTTAGTTGACATGAGATGTGGGCTCAAACTTTTAGAAAGCTCCATGGGCAACTTTCGTGTTCATTCCCAATTAAAAACCACTCTTGGCCGGGCGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCGCACATCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGGAGGCGGAGCTTGCAGTGAGCCACGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACCACTCTTATAAACAGAATTTGCATGACAAAGAGGGTAAAAAGTACGGCACACACTCAAAAAGTAAGGTCAGAGTTCTACTGACTTAGGTTAAAATAGCAGCAGAGTTAAAGAAGGATTACGATTTAAGCTATGTCTAACATGGCATATATATGAAGCAAAAGATGTTTATTTGGGAGGATATAAATTCAATAAGATATAAAGAAAGACCATGTGGGGAAAGAAATTTGGAAGAAGAGAAATCAAGGGTCATACCCACATGCTGGCATTCTACATCAGTAACTTACTTCTCTTGAGACAGGGTCTACTTCTATCAGGCCATGTTCTGAACCAATGAGCACCGTCCCCTGTTCAGTTCGGAGAGAGAAGCACTGAGGATTCCCTGGACCTTGAATATCCCTGAACTCCAGGGTCCGAAATAATTTCAGATTTCGCATGATGAAGTGATTCCCACGAGACAAGTACAACTATCCCTTGATGAATCATTAATCTCTAAGAGAAAAATAAATAGCTTAATAGTGATAAATGACCATATTTATTTAAATGAAATGATTCAGGGGGTGAAGAAGTGGTAGTCAGAATCAGAATAACCAAGAAAAGAAAAAACTTACCTCTCTGAGTACACACCCATGTATGGATTATAGCAGCAACCTGACCCACTCTATACAGTTATGGTCTACAAATTAGGAATTCTGAAACCTATTTTATGTTCTTTTTAGGAGAGGCAAGATTCTCAACTTTAGAATGTTTTCTTCAAAAAAGATGTAATATCAGTTATTCCTTTGGGAAAGTTGAAAGAACAAATGAATGGGGAAACATTTTATTTTTGCATATTAGGACATCTTTATAAAATCATGAGGAAAAACAAAAGGGTATCCCACTGATTAGCACTATTTGAAAATCCATTTTTATATACTGGCAGTTGAAGAGAATCTGAAATGACTTTAATATTCACCAGGTCTATTCATTTATAAACTGGTTTTATACATTCATAAAAAAACTGAAATCAAAGATAGAAAAGCATTTACTGTTCTAAAGGGGAAGAGAAAATACTGGGACATGACAACAATTTACTTCAAAATGATGACCAACATTTCAAGGACCCTGATGACCTGACATAACTACTTCCAGTAACTTTGTTCTTCTGGCCAGGCNNNN | pathogenic | 148,986 |
Clinical significance of chromosome 9, position 108931008, gene ELP1 (elongator acetyltransferase complex subunit 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Medulloblastoma'] | GTGCCTTAACTGCCTCTTCTGAAGAATAGGAAACAACAACCTACTGCATAAGGTCATGGTGAAGATTAAATAAATTTGCATGAAAAGCACTTTAAAAAGTGCCAGGCACATGATAGTTAATAAATGTAAGCTGCTATCATTATCCTACTATTAGTAATACTCTAACTTCTGTGACATAATCAATGTTAAGGAGATCACAACTAATGAAGTAATGGAAGAAGATTTAAAGAATCAGCCAAGTGTAATTTGAAACCCTTGCTGTTAAGAAGGTGAGGATAGAAATCAGAAACTCAACTATACACTAAAGTAGAGAAAGAAGCAATTGCTTGAAGTCTAGCTCTACTGGCAGTCATCACATGTGCAGGTAATGACAATGTATTTACTTTAGTGCCTAGACTTCAGGGACTCTAAATTTAGCCAATCAACATTCATAACAGAAAATCTAAGTCAGATAAACAAAGACTTCCTAAATTGAGAAACAAAGGTTGCAACTCAAGATGAGGGTCTGATAAGAGGTGATCTACACCACATAAGAATAGCCAGTTTTAACTTTTAAAAAAATATATTCTCATTTGGAACATTCTGATCACTCTGATTAATAGATGCAGCAGACAAAACTCAGTTTTAGAAGAATCTTAACATATAGATAAAGCCATGTTAACAATTTTTTAAATAAAGAAATATATAATGCAAAAATTAATTAGCAAAAGTGTAACTATTATGGCTACTGATTTGAAAACTTCCACAAATAGCAAGTAACCTATTTGAGGATGCTTGAGACTCCCCCCTCACTGGAGTCTTCCACTTACCTGTTGTGTGCTGAGACTGCAGAGTATGACGTCTCCAGAGGCTGTGGCCACACACACAGACTCCTGATCCAGCAAGTCCTGAACACCAACAATGCGGCCACTTCCATCCTCTGGGAGAAAGCCTTCTGCCACCAAAGAAACTTCATTTTTCACCTTTCACCAAAGTAAACACAAGCAAATTAACCCAGTCTACTTTCAAGAATAATTGATAACATTTCCAGAAATACTTTTTAATGCTTCTTTTATTACATAAAAGCTTTCAAAAATATTTTTTCTAGATGAAAATCCAAACTTTCATTTGAGAAATATCACTACTCTGTCATCTCTAACAAGAAAAATAGGTAATGTGACCTTTTTGCCAAACAAACACAAAAACAAAAACAATAAGCCTGGTCTCTTTAAAATTGTCCACTAAAATATGATGCTAATAGCTATGCTTTTCTAAGATTTCTATAGTATGGGGAAAAGGCACTAAAGGATGTAACTGCCTAAAATGTATTAGTAGAAGAACATAATCAAGGGACCATATCAAAACCAACCCACAGAGGTTTTTAAAGTACATATAGTTAGGAGCCAACACTAAAGATTCTGATTTAGTTGACATGAGATGTGGGCTCAAACTTTTAGAAAGCTCCATGGGCAACTTTCGTGTTCATTCCCAATTAAAAACCACTCTTGGCCGGGCGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCGCACATCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGGAGGCGGAGCTTGCAGTGAGCCACGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACCACTCTTATAAACAGAATTTGCATGACAAAGAGGGTAAAAAGTACGGCACACACTCAAAAAGTAAGGTCAGAGTTCTACTGACTTAGGTTAAAATAGCAGCAGAGTTAAAGAAGGATTACGATTTAAGCTATGTCTAACATGGCATATATATGAAGCAAAAGATGTTTATTTGGGAGGATATAAATTCAATAAGATATAAAGAAAGACCATGTGGGGAAAGAAATTTGGAAGAAGAGAAATCAAGGGTCATACCCACATGCTGGCATTCTACATCAGTAACTTACTTCTCTTGAGACAGGGTCTACTTCTATCAGGCCATGTTCTGAACCAATGAGCACCGTCCCCTGTTCAGTTCGGAGAGAGAAGCACTGAGGATTCCCTGGACCTTGAATATCCCTGAACTCCAGGGTCCGAAATAATTTCAGATTTCGCATGATGAAGTGATTCCCACGAGACAAGTACAACTATCCCTTGATGAATCATTAATCTCTAAGAGAAAAATAAATAGCTTAATAGTGATAAATGACCATATTTATTTAAATGAAATGATTCAGGGGGTGAAGAAGTGGTAGTCAGAATCAGAATAACCAAGAAAAGAAAAAACTTACCTCTCTGAGTACACACCCATGTATGGATTATAGCAGCAACCTGACCCACTCTATACAGTTATGGTCTACAAATTAGGAATTCTGAAACCTATTTTATGTTCTTTTTAGGAGAGGCAAGATTCTCAACTTTAGAATGTTTTCTTCAAAAAAGATGTAATATCAGTTATTCCTTTGGGAAAGTTGAAAGAACAAATGAATGGGGAAACATTTTATTTTTGCATATTAGGACATCTTTATAAAATCATGAGGAAAAACAAAAGGGTATCCCACTGATTAGCACTATTTGAAAATCCATTTTTATATACTGGCAGTTGAAGAGAATCTGAAATGACTTTAATATTCACCAGGTCTATTCATTTATAAACTGGTTTTATACATTCATAAAAAAACTGAAATCAAAGATAGAAAAGCATTTACTGTTCTAAAGGGGAAGAGAAAATACTGGGACATGACAACAATTTACTTCAAAATGATGACCAACATTTCAAGGACCCTGATGACCTGACATAACTACTTCCAGTAACTTTGTTCTTCTGGCCAGGCTTTTCCCAGGACAATATAAAACGTGAGAAAAGAGTGCTAAACAAGACATCTACTTTGGTCTGGCAAAATCAGGCTTGCTTAAATGCATAACATTACCTAAGTAGGGGAAAAAAATGTTACTGTGCTAGTTATTTATATTCAGATCCCTTTAAGGCTTATGATTGTAAGTCCCTAACTTATGTTAGGGGTAGCAATTACAAGGACCACACCGGTCTTATTGTCACTTTAATCCAAGGAGACTTCTCTCATCTTGGCACCCCACATATGTATGACATAGAAAGAATAAAGATGAATCAATCCTAATAGTACACAGAAGATAATGTCAAGTGTCATAGGAATTATATAATATATAATGTGGGATAAGAGAAAGGTAAGTTTATATATGATGGAAGTGAGGAAGACAATGATTTTAGTAAGTTTTGGTGACAATTATATTCAAGAACTGCTAGAAATTACTTGAACCTCTAACATATCATGCAGGTTTTTTTGTTTTTTGAGACGGAGTTTCGCTCTTATTGCCCAGGCTGGGGTGCAATGGCGCGATCTCGGCTCACCGCAACATCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCCGGCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTTGAACTCCTAACCTCAAGTGATCCACCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGTGCCTGGCTGCGTTTTTCATCTTTAAACATCATAAAAACGCCTCAAAACTAGTTTCTCTGAAATTTCACACCCATCAGCCTTATTCCCTTATCTTCTCGGAGGAAGACTTCCCTCCACTTCTTTCCAGGCTAGGAAAGGAATATCCTCCATATTGCCACAGGACCTAGGCCTATTAGTACTCTTTCTTGGACATCTGCAACCTCCAACCTTCCTGCCTCCACTGATTCAAACTCTTCGCAGTTCTTAAATGTGCTAAAGATCCCTCCACACCAAAGGTCAATCGTGGATTCTCTCTTAATTTCCTGATAACTGCTTCATTTTCTTCCCTTGCTCCTTCGACTATCCACCTCTTGGCTAGACATCACATGCATGATTACATATACCAGGTAGATCACCAATACGCTGATTAGGCCTAAATGCCT | GTGCCTTAACTGCCTCTTCTGAAGAATAGGAAACAACAACCTACTGCATAAGGTCATGGTGAAGATTAAATAAATTTGCATGAAAAGCACTTTAAAAAGTGCCAGGCACATGATAGTTAATAAATGTAAGCTGCTATCATTATCCTACTATTAGTAATACTCTAACTTCTGTGACATAATCAATGTTAAGGAGATCACAACTAATGAAGTAATGGAAGAAGATTTAAAGAATCAGCCAAGTGTAATTTGAAACCCTTGCTGTTAAGAAGGTGAGGATAGAAATCAGAAACTCAACTATACACTAAAGTAGAGAAAGAAGCAATTGCTTGAAGTCTAGCTCTACTGGCAGTCATCACATGTGCAGGTAATGACAATGTATTTACTTTAGTGCCTAGACTTCAGGGACTCTAAATTTAGCCAATCAACATTCATAACAGAAAATCTAAGTCAGATAAACAAAGACTTCCTAAATTGAGAAACAAAGGTTGCAACTCAAGATGAGGGTCTGATAAGAGGTGATCTACACCACATAAGAATAGCCAGTTTTAACTTTTAAAAAAATATATTCTCATTTGGAACATTCTGATCACTCTGATTAATAGATGCAGCAGACAAAACTCAGTTTTAGAAGAATCTTAACATATAGATAAAGCCATGTTAACAATTTTTTAAATAAAGAAATATATAATGCAAAAATTAATTAGCAAAAGTGTAACTATTATGGCTACTGATTTGAAAACTTCCACAAATAGCAAGTAACCTATTTGAGGATGCTTGAGACTCCCCCCTCACTGGAGTCTTCCACTTACCTGTTGTGTGCTGAGACTGCAGAGTATGACGTCTCCAGAGGCTGTGGCCACACACACAGACTCCTGATCCAGCAAGTCCTGAACACCAACAATGCGGCCACTTCCATCCTCTGGGAGAAAGCCTTCTGCCACCAAAGAAACTTCATTTTTCACCTTTCACCAAAGTAAACACAAGCAAATTAACCCAGTCTACTTTCAAGAATAATTGATAACATTTCCAGAAATACTTTTTAATGCTTCTTTTATTACATAAAAGCTTTCAAAAATATTTTTTCTAGATGAAAATCCAAACTTTCATTTGAGAAATATCACTACTCTGTCATCTCTAACAAGAAAAATAGGTAATGTGACCTTTTTGCCAAACAAACACAAAAACAAAAACAATAAGCCTGGTCTCTTTAAAATTGTCCACTAAAATATGATGCTAATAGCTATGCTTTTCTAAGATTTCTATAGTATGGGGAAAAGGCACTAAAGGATGTAACTGCCTAAAATGTATTAGTAGAAGAACATAATCAAGGGACCATATCAAAACCAACCCACAGAGGTTTTTAAAGTACATATAGTTAGGAGCCAACACTAAAGATTCTGATTTAGTTGACATGAGATGTGGGCTCAAACTTTTAGAAAGCTCCATGGGCAACTTTCGTGTTCATTCCCAATTAAAAACCACTCTTGGCCGGGCGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCGCACATCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGGAGGCGGAGCTTGCAGTGAGCCACGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACCACTCTTATAAACAGAATTTGCATGACAAAGAGGGTAAAAAGTACGGCACACACTCAAAAAGTAAGGTCAGAGTTCTACTGACTTAGGTTAAAATAGCAGCAGAGTTAAAGAAGGATTACGATTTAAGCTATGTCTAACATGGCATATATATGAAGCAAAAGATGTTTATTTGGGAGGATATAAATTCAATAAGATATAAAGAAAGACCATGTGGGGAAAGAAATTTGGAAGAAGAGAAATCAAGGGTCATACCCACATGCTGGCATTCTACATCAGTAACTTACTTCTCTTGAGACAAGGGTCTACTTCTATCAGGCCATGTTCTGAACCAATGAGCACCGTCCCCTGTTCAGTTCGGAGAGAGAAGCACTGAGGATTCCCTGGACCTTGAATATCCCTGAACTCCAGGGTCCGAAATAATTTCAGATTTCGCATGATGAAGTGATTCCCACGAGACAAGTACAACTATCCCTTGATGAATCATTAATCTCTAAGAGAAAAATAAATAGCTTAATAGTGATAAATGACCATATTTATTTAAATGAAATGATTCAGGGGGTGAAGAAGTGGTAGTCAGAATCAGAATAACCAAGAAAAGAAAAAACTTACCTCTCTGAGTACACACCCATGTATGGATTATAGCAGCAACCTGACCCACTCTATACAGTTATGGTCTACAAATTAGGAATTCTGAAACCTATTTTATGTTCTTTTTAGGAGAGGCAAGATTCTCAACTTTAGAATGTTTTCTTCAAAAAAGATGTAATATCAGTTATTCCTTTGGGAAAGTTGAAAGAACAAATGAATGGGGAAACATTTTATTTTTGCATATTAGGACATCTTTATAAAATCATGAGGAAAAACAAAAGGGTATCCCACTGATTAGCACTATTTGAAAATCCATTTTTATATACTGGCAGTTGAAGAGAATCTGAAATGACTTTAATATTCACCAGGTCTATTCATTTATAAACTGGTTTTATACATTCATAAAAAAACTGAAATCAAAGATAGAAAAGCATTTACTGTTCTAAAGGGGAAGAGAAAATACTGGGACATGACAACAATTTACTTCAAAATGATGACCAACATTTCAAGGACCCTGATGACCTGACATAACTACTTCCAGTAACTTTGTTCTTCTGGCCAGGCTTTTCCCAGGACAATATAAAACGTGAGAAAAGAGTGCTAAACAAGACATCTACTTTGGTCTGGCAAAATCAGGCTTGCTTAAATGCATAACATTACCTAAGTAGGGGAAAAAAATGTTACTGTGCTAGTTATTTATATTCAGATCCCTTTAAGGCTTATGATTGTAAGTCCCTAACTTATGTTAGGGGTAGCAATTACAAGGACCACACCGGTCTTATTGTCACTTTAATCCAAGGAGACTTCTCTCATCTTGGCACCCCACATATGTATGACATAGAAAGAATAAAGATGAATCAATCCTAATAGTACACAGAAGATAATGTCAAGTGTCATAGGAATTATATAATATATAATGTGGGATAAGAGAAAGGTAAGTTTATATATGATGGAAGTGAGGAAGACAATGATTTTAGTAAGTTTTGGTGACAATTATATTCAAGAACTGCTAGAAATTACTTGAACCTCTAACATATCATGCAGGTTTTTTTGTTTTTTGAGACGGAGTTTCGCTCTTATTGCCCAGGCTGGGGTGCAATGGCGCGATCTCGGCTCACCGCAACATCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCCGGCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTTGAACTCCTAACCTCAAGTGATCCACCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGTGCCTGGCTGCGTTTTTCATCTTTAAACATCATAAAAACGCCTCAAAACTAGTTTCTCTGAAATTTCACACCCATCAGCCTTATTCCCTTATCTTCTCGGAGGAAGACTTCCCTCCACTTCTTTCCAGGCTAGGAAAGGAATATCCTCCATATTGCCACAGGACCTAGGCCTATTAGTACTCTTTCTTGGACATCTGCAACCTCCAACCTTCCTGCCTCCACTGATTCAAACTCTTCGCAGTTCTTAAATGTGCTAAAGATCCCTCCACACCAAAGGTCAATCGTGGATTCTCTCTTAATTTCCTGATAACTGCTTCATTTTCTTCCCTTGCTCCTTCGACTATCCACCTCTTGGCTAGACATCACATGCATGATTACATATACCAGGTAGATCACCAATACGCTGATTAGGCCTAAATGCC | pathogenic | 148,991 |
A genetic alteration at chromosome 9, position 108931049, in gene ELP1 (elongator acetyltransferase complex subunit 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_dysautonomia'] | TACTGCATAAGGTCATGGTGAAGATTAAATAAATTTGCATGAAAAGCACTTTAAAAAGTGCCAGGCACATGATAGTTAATAAATGTAAGCTGCTATCATTATCCTACTATTAGTAATACTCTAACTTCTGTGACATAATCAATGTTAAGGAGATCACAACTAATGAAGTAATGGAAGAAGATTTAAAGAATCAGCCAAGTGTAATTTGAAACCCTTGCTGTTAAGAAGGTGAGGATAGAAATCAGAAACTCAACTATACACTAAAGTAGAGAAAGAAGCAATTGCTTGAAGTCTAGCTCTACTGGCAGTCATCACATGTGCAGGTAATGACAATGTATTTACTTTAGTGCCTAGACTTCAGGGACTCTAAATTTAGCCAATCAACATTCATAACAGAAAATCTAAGTCAGATAAACAAAGACTTCCTAAATTGAGAAACAAAGGTTGCAACTCAAGATGAGGGTCTGATAAGAGGTGATCTACACCACATAAGAATAGCCAGTTTTAACTTTTAAAAAAATATATTCTCATTTGGAACATTCTGATCACTCTGATTAATAGATGCAGCAGACAAAACTCAGTTTTAGAAGAATCTTAACATATAGATAAAGCCATGTTAACAATTTTTTAAATAAAGAAATATATAATGCAAAAATTAATTAGCAAAAGTGTAACTATTATGGCTACTGATTTGAAAACTTCCACAAATAGCAAGTAACCTATTTGAGGATGCTTGAGACTCCCCCCTCACTGGAGTCTTCCACTTACCTGTTGTGTGCTGAGACTGCAGAGTATGACGTCTCCAGAGGCTGTGGCCACACACACAGACTCCTGATCCAGCAAGTCCTGAACACCAACAATGCGGCCACTTCCATCCTCTGGGAGAAAGCCTTCTGCCACCAAAGAAACTTCATTTTTCACCTTTCACCAAAGTAAACACAAGCAAATTAACCCAGTCTACTTTCAAGAATAATTGATAACATTTCCAGAAATACTTTTTAATGCTTCTTTTATTACATAAAAGCTTTCAAAAATATTTTTTCTAGATGAAAATCCAAACTTTCATTTGAGAAATATCACTACTCTGTCATCTCTAACAAGAAAAATAGGTAATGTGACCTTTTTGCCAAACAAACACAAAAACAAAAACAATAAGCCTGGTCTCTTTAAAATTGTCCACTAAAATATGATGCTAATAGCTATGCTTTTCTAAGATTTCTATAGTATGGGGAAAAGGCACTAAAGGATGTAACTGCCTAAAATGTATTAGTAGAAGAACATAATCAAGGGACCATATCAAAACCAACCCACAGAGGTTTTTAAAGTACATATAGTTAGGAGCCAACACTAAAGATTCTGATTTAGTTGACATGAGATGTGGGCTCAAACTTTTAGAAAGCTCCATGGGCAACTTTCGTGTTCATTCCCAATTAAAAACCACTCTTGGCCGGGCGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCGCACATCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGGAGGCGGAGCTTGCAGTGAGCCACGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACCACTCTTATAAACAGAATTTGCATGACAAAGAGGGTAAAAAGTACGGCACACACTCAAAAAGTAAGGTCAGAGTTCTACTGACTTAGGTTAAAATAGCAGCAGAGTTAAAGAAGGATTACGATTTAAGCTATGTCTAACATGGCATATATATGAAGCAAAAGATGTTTATTTGGGAGGATATAAATTCAATAAGATATAAAGAAAGACCATGTGGGGAAAGAAATTTGGAAGAAGAGAAATCAAGGGTCATACCCACATGCTGGCATTCTACATCAGTAACTTACTTCTCTTGAGACAGGGTCTACTTCTATCAGGCCATGTTCTGAACCAATGAGCACCGTCCCCTGTTCAGTTCGGAGAGAGAAGCACTGAGGATTCCCTGGACCTTGAATATCCCTGAACTCCAGGGTCCGAAATAATTTCAGATTTCGCATGATGAAGTGATTCCCACGAGACAAGTACAACTATCCCTTGATGAATCATTAATCTCTAAGAGAAAAATAAATAGCTTAATAGTGATAAATGACCATATTTATTTAAATGAAATGATTCAGGGGGTGAAGAAGTGGTAGTCAGAATCAGAATAACCAAGAAAAGAAAAAACTTACCTCTCTGAGTACACACCCATGTATGGATTATAGCAGCAACCTGACCCACTCTATACAGTTATGGTCTACAAATTAGGAATTCTGAAACCTATTTTATGTTCTTTTTAGGAGAGGCAAGATTCTCAACTTTAGAATGTTTTCTTCAAAAAAGATGTAATATCAGTTATTCCTTTGGGAAAGTTGAAAGAACAAATGAATGGGGAAACATTTTATTTTTGCATATTAGGACATCTTTATAAAATCATGAGGAAAAACAAAAGGGTATCCCACTGATTAGCACTATTTGAAAATCCATTTTTATATACTGGCAGTTGAAGAGAATCTGAAATGACTTTAATATTCACCAGGTCTATTCATTTATAAACTGGTTTTATACATTCATAAAAAAACTGAAATCAAAGATAGAAAAGCATTTACTGTTCTAAAGGGGAAGAGAAAATACTGGGACATGACAACAATTTACTTCAAAATGATGACCAACATTTCAAGGACCCTGATGACCTGACATAACTACTTCCAGTAACTTTGTTCTTCTGGCCAGGCTTTTCCCAGGACAATATAAAACGTGAGAAAAGAGTGCTAAACAAGACATCTACTTTGGTCTGGCAAAATCAGGCTTGCTTAAATGCATAACATTACCTAAGTAGGGGAAAAAAATGTTACTGTGCTAGTTATTTATATTCAGATCCCTTTAAGGCTTATGATTGTAAGTCCCTAACTTATGTTAGGGGTAGCAATTACAAGGACCACACCGGTCTTATTGTCACTTTAATCCAAGGAGACTTCTCTCATCTTGGCACCCCACATATGTATGACATAGAAAGAATAAAGATGAATCAATCCTAATAGTACACAGAAGATAATGTCAAGTGTCATAGGAATTATATAATATATAATGTGGGATAAGAGAAAGGTAAGTTTATATATGATGGAAGTGAGGAAGACAATGATTTTAGTAAGTTTTGGTGACAATTATATTCAAGAACTGCTAGAAATTACTTGAACCTCTAACATATCATGCAGGTTTTTTTGTTTTTTGAGACGGAGTTTCGCTCTTATTGCCCAGGCTGGGGTGCAATGGCGCGATCTCGGCTCACCGCAACATCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCCGGCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTTGAACTCCTAACCTCAAGTGATCCACCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGTGCCTGGCTGCGTTTTTCATCTTTAAACATCATAAAAACGCCTCAAAACTAGTTTCTCTGAAATTTCACACCCATCAGCCTTATTCCCTTATCTTCTCGGAGGAAGACTTCCCTCCACTTCTTTCCAGGCTAGGAAAGGAATATCCTCCATATTGCCACAGGACCTAGGCCTATTAGTACTCTTTCTTGGACATCTGCAACCTCCAACCTTCCTGCCTCCACTGATTCAAACTCTTCGCAGTTCTTAAATGTGCTAAAGATCCCTCCACACCAAAGGTCAATCGTGGATTCTCTCTTAATTTCCTGATAACTGCTTCATTTTCTTCCCTTGCTCCTTCGACTATCCACCTCTTGGCTAGACATCACATGCATGATTACATATACCAGGTAGATCACCAATACGCTGATTAGGCCTAAATGCCTAGCCCTGACTGAATTAGCCCAAACTTACCACTAAACCCACA | TACTGCATAAGGTCATGGTGAAGATTAAATAAATTTGCATGAAAAGCACTTTAAAAAGTGCCAGGCACATGATAGTTAATAAATGTAAGCTGCTATCATTATCCTACTATTAGTAATACTCTAACTTCTGTGACATAATCAATGTTAAGGAGATCACAACTAATGAAGTAATGGAAGAAGATTTAAAGAATCAGCCAAGTGTAATTTGAAACCCTTGCTGTTAAGAAGGTGAGGATAGAAATCAGAAACTCAACTATACACTAAAGTAGAGAAAGAAGCAATTGCTTGAAGTCTAGCTCTACTGGCAGTCATCACATGTGCAGGTAATGACAATGTATTTACTTTAGTGCCTAGACTTCAGGGACTCTAAATTTAGCCAATCAACATTCATAACAGAAAATCTAAGTCAGATAAACAAAGACTTCCTAAATTGAGAAACAAAGGTTGCAACTCAAGATGAGGGTCTGATAAGAGGTGATCTACACCACATAAGAATAGCCAGTTTTAACTTTTAAAAAAATATATTCTCATTTGGAACATTCTGATCACTCTGATTAATAGATGCAGCAGACAAAACTCAGTTTTAGAAGAATCTTAACATATAGATAAAGCCATGTTAACAATTTTTTAAATAAAGAAATATATAATGCAAAAATTAATTAGCAAAAGTGTAACTATTATGGCTACTGATTTGAAAACTTCCACAAATAGCAAGTAACCTATTTGAGGATGCTTGAGACTCCCCCCTCACTGGAGTCTTCCACTTACCTGTTGTGTGCTGAGACTGCAGAGTATGACGTCTCCAGAGGCTGTGGCCACACACACAGACTCCTGATCCAGCAAGTCCTGAACACCAACAATGCGGCCACTTCCATCCTCTGGGAGAAAGCCTTCTGCCACCAAAGAAACTTCATTTTTCACCTTTCACCAAAGTAAACACAAGCAAATTAACCCAGTCTACTTTCAAGAATAATTGATAACATTTCCAGAAATACTTTTTAATGCTTCTTTTATTACATAAAAGCTTTCAAAAATATTTTTTCTAGATGAAAATCCAAACTTTCATTTGAGAAATATCACTACTCTGTCATCTCTAACAAGAAAAATAGGTAATGTGACCTTTTTGCCAAACAAACACAAAAACAAAAACAATAAGCCTGGTCTCTTTAAAATTGTCCACTAAAATATGATGCTAATAGCTATGCTTTTCTAAGATTTCTATAGTATGGGGAAAAGGCACTAAAGGATGTAACTGCCTAAAATGTATTAGTAGAAGAACATAATCAAGGGACCATATCAAAACCAACCCACAGAGGTTTTTAAAGTACATATAGTTAGGAGCCAACACTAAAGATTCTGATTTAGTTGACATGAGATGTGGGCTCAAACTTTTAGAAAGCTCCATGGGCAACTTTCGTGTTCATTCCCAATTAAAAACCACTCTTGGCCGGGCGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCGCACATCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGGAGGCGGAGCTTGCAGTGAGCCACGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACCACTCTTATAAACAGAATTTGCATGACAAAGAGGGTAAAAAGTACGGCACACACTCAAAAAGTAAGGTCAGAGTTCTACTGACTTAGGTTAAAATAGCAGCAGAGTTAAAGAAGGATTACGATTTAAGCTATGTCTAACATGGCATATATATGAAGCAAAAGATGTTTATTTGGGAGGATATAAATTCAATAAGATATAAAGAAAGACCATGTGGGGAAAGAAATTTGGAAGAAGAGAAATCAAGGGTCATACCCACATGCTGGCATTCTACATCAGTAACTTACTTCTCTTGAGACAGGGTCTACTTCTATCAGGCCATGTTCTGAACCAATGAGCACGTCCCCTGTTCAGTTCGGAGAGAGAAGCACTGAGGATTCCCTGGACCTTGAATATCCCTGAACTCCAGGGTCCGAAATAATTTCAGATTTCGCATGATGAAGTGATTCCCACGAGACAAGTACAACTATCCCTTGATGAATCATTAATCTCTAAGAGAAAAATAAATAGCTTAATAGTGATAAATGACCATATTTATTTAAATGAAATGATTCAGGGGGTGAAGAAGTGGTAGTCAGAATCAGAATAACCAAGAAAAGAAAAAACTTACCTCTCTGAGTACACACCCATGTATGGATTATAGCAGCAACCTGACCCACTCTATACAGTTATGGTCTACAAATTAGGAATTCTGAAACCTATTTTATGTTCTTTTTAGGAGAGGCAAGATTCTCAACTTTAGAATGTTTTCTTCAAAAAAGATGTAATATCAGTTATTCCTTTGGGAAAGTTGAAAGAACAAATGAATGGGGAAACATTTTATTTTTGCATATTAGGACATCTTTATAAAATCATGAGGAAAAACAAAAGGGTATCCCACTGATTAGCACTATTTGAAAATCCATTTTTATATACTGGCAGTTGAAGAGAATCTGAAATGACTTTAATATTCACCAGGTCTATTCATTTATAAACTGGTTTTATACATTCATAAAAAAACTGAAATCAAAGATAGAAAAGCATTTACTGTTCTAAAGGGGAAGAGAAAATACTGGGACATGACAACAATTTACTTCAAAATGATGACCAACATTTCAAGGACCCTGATGACCTGACATAACTACTTCCAGTAACTTTGTTCTTCTGGCCAGGCTTTTCCCAGGACAATATAAAACGTGAGAAAAGAGTGCTAAACAAGACATCTACTTTGGTCTGGCAAAATCAGGCTTGCTTAAATGCATAACATTACCTAAGTAGGGGAAAAAAATGTTACTGTGCTAGTTATTTATATTCAGATCCCTTTAAGGCTTATGATTGTAAGTCCCTAACTTATGTTAGGGGTAGCAATTACAAGGACCACACCGGTCTTATTGTCACTTTAATCCAAGGAGACTTCTCTCATCTTGGCACCCCACATATGTATGACATAGAAAGAATAAAGATGAATCAATCCTAATAGTACACAGAAGATAATGTCAAGTGTCATAGGAATTATATAATATATAATGTGGGATAAGAGAAAGGTAAGTTTATATATGATGGAAGTGAGGAAGACAATGATTTTAGTAAGTTTTGGTGACAATTATATTCAAGAACTGCTAGAAATTACTTGAACCTCTAACATATCATGCAGGTTTTTTTGTTTTTTGAGACGGAGTTTCGCTCTTATTGCCCAGGCTGGGGTGCAATGGCGCGATCTCGGCTCACCGCAACATCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCCGGCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTTGAACTCCTAACCTCAAGTGATCCACCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGTGCCTGGCTGCGTTTTTCATCTTTAAACATCATAAAAACGCCTCAAAACTAGTTTCTCTGAAATTTCACACCCATCAGCCTTATTCCCTTATCTTCTCGGAGGAAGACTTCCCTCCACTTCTTTCCAGGCTAGGAAAGGAATATCCTCCATATTGCCACAGGACCTAGGCCTATTAGTACTCTTTCTTGGACATCTGCAACCTCCAACCTTCCTGCCTCCACTGATTCAAACTCTTCGCAGTTCTTAAATGTGCTAAAGATCCCTCCACACCAAAGGTCAATCGTGGATTCTCTCTTAATTTCCTGATAACTGCTTCATTTTCTTCCCTTGCTCCTTCGACTATCCACCTCTTGGCTAGACATCACATGCATGATTACATATACCAGGTAGATCACCAATACGCTGATTAGGCCTAAATGCCTAGCCCTGACTGAATTAGCCCAAACTTACCACTAAACCCACAN | pathogenic | 148,992 |
For chromosome 9, position 109141465, gene FRRS1L (ferric chelate reductase 1 like): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Chorea', 'Developmental_and_epileptic_encephalopathy,_37', 'FRRS1L-related_disorder', 'Inborn_genetic_diseases', 'Progressive_encephalopathy', 'Seizure'] | AAAATACAGCTTTTTCCAATTGGTAAAGCAATTTCAAATACTTGTTTTCACTTAATCCTTACAATATTTCCATGGAATAGGAAGTATTATTATCCCCACTTTAGATATAAGGAAATGAAATTCAGAAATTAAATAATAGGCTAAATATTATACAGCTACCAAGGGGCAGAACCAATACTCAAACTCAAATTTTTAGACTTCAAATCCCACTATTTTAGATTACTCCATTTCTCCAGGCTGAGATATAATTTATTTCCCAGGGTACCGAAAGTAATTGAAGTTATAACTGCAGAGCCACTGTTGGTAATCTGGGAAATTAGCAAATGGAAAAGGTGTCACCAATCTGGAGACAGTCAAGTGTCTTCCCAATTGGCAACAGGCAAAATAAAAGGTAGATTATGTCATCTCTGGGCTGATTGGTGGAAACGAATTGAAGGAAAAAAACAACCAGATCAGATTAGGCAGCAAATAGTTGATGAGCACACAGTAAAGAAAGATGCAATTACCAGGAGCCAGAATGAATTCTCAGTGCAAGGACTGCAAACCACACTCACTTCCATTCTTGAGCAGGCCCTTAGGCTAATCAACCAGAAGGAATGCTCAAGACTCAGTGTAACTTGATTTTAGCAGTCTCTAAAAGGTCTCATGATATCCTTGGGTCTTTGCTGGGCAAATGCTGCAGAGACTTGCCACCCAAAATGAGGTCATCAATGAACCAGCATGACCAGGGAGCTTATTAGAAATGCAGAATCTTGCCAGGCATGGTAGCTCACACCTGTAATCCCAGCACTTAGGGAGGCCAAAGCTGGTGGATCGGTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAGTTAGCCAGGCATAGTGGCGCATGACTGTAGTCCCAGCTACTTGGGAGCCTGAGGTGGGAGGGTCACTTAAACCTGGGAGGTGGAGGCTGCAGTGAGCTCTGATTGTTTCATTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGGGAGAGGAGGGAAGGGGAGGGGAGACCAGTAGAGGGGAGGAGAGAGGGGAAGACCTACAGAAAACTGCACTTTAACAATATAGCCAGGTAATTCCTATACACATAAATATTTAAGGAGTAATGGGTTAAACTATGGGATAATTTGGTAGATTTGTGACTAACAGAATAGTCACAAAGTGGGCCCTAATGAAATGCTTGGTGTCAATCTCTGGAGAAGTCTCCAGAAGCCCTTCCTGTTCAGTACTTTTTATTATTTCTTTCTTCTTCTTTTTTTTTTTTGAATGGAGACAGGGTCTCACTATAGTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAACCATCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGTCTGGCCCCCGTTCAGTCTTTTTATATTTACAGCATAGGAGTTAAGAGTATTCATGGGCTTTGGGGTCAGACAGACTTAGGATTGAATTTTAATTCTTCTACTAATTAGTTGTATAGCCTTGACCAAGTTTCTTAATCTCTCTAAAATCAGGACAATAATACCTATACCTCTCAAGGACATGGTGAGGAGTAAATAAGAATGCTGTGAGAATTGAACAGAGCCCTACATACAGCAGATACATGATCTGTTTCATTAAGCACATCACTCATGACATACTATCTTGTACTGCTGTAGCTTTGCATGTGTGTAACTGTTCATTTGTTTGTCCGTATAATAAGTCCATTATAATAAGTCCATTATAACCTTCTGAAGGTAGGAGTCGCATCTCCTTTTCCTTTAAATGATCCAGAGTGCTTATCGCTCTCTTGTGCACACAGTGTGACTTCAATTAACAATGAACACAAGCACAGTGGTGTCTGGCGTTTAATCCAGATGCTGAAATGTAAGCTTACCCTGAATGGCTGGACCCCAAGCAAACAGATAATACCAACTCAAATGCAGATCAACAATTGTTTCATCTCTGGGAACATTCACAGGGCGTTTAAATCTGCAGGTGACGCGATTGTTCTCAAAAACTCCTTCTTCATCTCTGGCAGGGTTTCTCTGAATCTCCTTTGCCCACTGGCCTACATTATAGAAGTGCTGTATGCGGACCCTGCCATTGTCATCATGGACGCAGGCCATGACATCATCACCACCCTAACATGAGAAATGATTGAGAAAAAAAAAAGTCAAAGGTTCATCTTTTGCACACTGGTCACTAGAAATATACATTCCATCATCTCTGCAATTTGAAATCCCACCAAAAAAATTCTTTTAAGTGCCATTAAAAAGTCTCAACCAGGAGACCAAAGTTACCATCACAATAAGTGACATTCAGTGCCTCCTGACTGATGTTTGGAGAAGACATTACCACCTATGTGGTAATCCTGCCCAAAACACAAACCAACCTAATCAAGAAAAAACAATCAGACAAACTCAAACTGAAGGTCATTCTACAAAAAAAATTAAAAAAATACCTAGCCTATAATCTTCAAGGAGTCAGTGTCATAAAAGACCAAAAAAAGAAAAAAAAAAAAAAGGCTAAGAAACTATTTCAAAATATACATGACAACAAAATGCAGTTCTAGGTGTTCCTACATAGAAATTTGGGCTATAAACCCAAAATTTCCCTAAGGACAGTATTGGGACAAGTAGCAACATATGAAAACAAACAATATATTTAATAATACCATCATATCAATGTTAAACTTCCTGAATTTAATAAACTATATAATAAAAGAGAACATTCTTGATTTTAGGAGATAACCTACTTAAGTATTTAGGGTTAAAGGATTATGATATTTGCTATTTAAATGCCAAAATTCCAGAAAATAACAATCAAAAAAATAATAATCAGTAGTAGTAGCAGTAGCAGTAGCAGTAGCAGCAAGCAGTACAGAGAATAAAGCATGTGTGGCTAATGTCATTATTTATGAAAAAGTTCTGGAACTAGGGAGTAGTGATGGTTGCAGAACACTGAATGTGGTTGATACCACTGCATTGACACTTTAAAATCATAAATTTTGGTGCTACTGCACTCCAGCCCGGATGACAGAGTGAGACCCTTTCTCAAAAAAATAAAATAAAATGGTCAATTCTGGCCAGGTGTGGTGACTAGTGCCTGTCATCCCAACAATGTGGGAAGTCAAGACAGGAGGATCATTTGAGCCCAGAAGTTCAAGACCAGTCTAGGCAATACAGTGAGACACTATCTCTACAAAAAATTAAAAAATTAGCTGGGCATGGGGCTCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTAGGAGGATCGCTGGGGAGGTTGAGGCTGCAGTGAGTCTTGTTTGTGCCACTGCACTGCAGCTTGGGCAATAGGGTGAGACCCTGTCTCAAAAAATAAAAATAAAAAAAAAAATACACAACAACAAAAAATAAAATGGTTAATTTTGTTATGTGCGTTTTACCACAATAAAAAAGTTATTATTTTGTTAATCTAAGTAGCTGTAGTCCCAGCTACTTGGGAGCCTGAGGTGGGAGGGTCACTTAAACCTTTACTATCCTTCCTGCTTGCCTACAGTTTACATTTTTTTCAAAACAAGTTTAAAAAAGTTAAAAGAGTTTGGTCGGGTGTGATGGCTCACGCCTATAATCCCAGCACTGTGGAAAGCTGAGGCAGACCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTTAAAATACAAAAATTAGCTAGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAGTCGCTTGAACCTGAGAGGTGGAGGCTGCAGTGAGCCGAAATAGTGCCACTGAACTCCAAGCCTGGGCAATACAGTAAGACTCCATCACAAAAAAATAAAAAGTTACAAAAAAAAGTGTTAATCAGTTGTAATGCATGTACCATCCTGTGCAGGATGTTGATAATGGGGGAGGCTCCCCAGGGGGTATATGGGAAATCTGTACCTTCGGCTCCATTTCACTGTGAACCTAAAACTGCTGTAAAACGTAAAGTCTAATTAAAACACACACACACGCACACAATAATG | AAAATACAGCTTTTTCCAATTGGTAAAGCAATTTCAAATACTTGTTTTCACTTAATCCTTACAATATTTCCATGGAATAGGAAGTATTATTATCCCCACTTTAGATATAAGGAAATGAAATTCAGAAATTAAATAATAGGCTAAATATTATACAGCTACCAAGGGGCAGAACCAATACTCAAACTCAAATTTTTAGACTTCAAATCCCACTATTTTAGATTACTCCATTTCTCCAGGCTGAGATATAATTTATTTCCCAGGGTACCGAAAGTAATTGAAGTTATAACTGCAGAGCCACTGTTGGTAATCTGGGAAATTAGCAAATGGAAAAGGTGTCACCAATCTGGAGACAGTCAAGTGTCTTCCCAATTGGCAACAGGCAAAATAAAAGGTAGATTATGTCATCTCTGGGCTGATTGGTGGAAACGAATTGAAGGAAAAAAACAACCAGATCAGATTAGGCAGCAAATAGTTGATGAGCACACAGTAAAGAAAGATGCAATTACCAGGAGCCAGAATGAATTCTCAGTGCAAGGACTGCAAACCACACTCACTTCCATTCTTGAGCAGGCCCTTAGGCTAATCAACCAGAAGGAATGCTCAAGACTCAGTGTAACTTGATTTTAGCAGTCTCTAAAAGGTCTCATGATATCCTTGGGTCTTTGCTGGGCAAATGCTGCAGAGACTTGCCACCCAAAATGAGGTCATCAATGAACCAGCATGACCAGGGAGCTTATTAGAAATGCAGAATCTTGCCAGGCATGGTAGCTCACACCTGTAATCCCAGCACTTAGGGAGGCCAAAGCTGGTGGATCGGTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAGTTAGCCAGGCATAGTGGCGCATGACTGTAGTCCCAGCTACTTGGGAGCCTGAGGTGGGAGGGTCACTTAAACCTGGGAGGTGGAGGCTGCAGTGAGCTCTGATTGTTTCATTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGGGAGAGGAGGGAAGGGGAGGGGAGACCAGTAGAGGGGAGGAGAGAGGGGAAGACCTACAGAAAACTGCACTTTAACAATATAGCCAGGTAATTCCTATACACATAAATATTTAAGGAGTAATGGGTTAAACTATGGGATAATTTGGTAGATTTGTGACTAACAGAATAGTCACAAAGTGGGCCCTAATGAAATGCTTGGTGTCAATCTCTGGAGAAGTCTCCAGAAGCCCTTCCTGTTCAGTACTTTTTATTATTTCTTTCTTCTTCTTTTTTTTTTTTGAATGGAGACAGGGTCTCACTATAGTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAACCATCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGTCTGGCCCCCGTTCAGTCTTTTTATATTTACAGCATAGGAGTTAAGAGTATTCATGGGCTTTGGGGTCAGACAGACTTAGGATTGAATTTTAATTCTTCTACTAATTAGTTGTATAGCCTTGACCAAGTTTCTTAATCTCTCTAAAATCAGGACAATAATACCTATACCTCTCAAGGACATGGTGAGGAGTAAATAAGAATGCTGTGAGAATTGAACAGAGCCCTACATACAGCAGATACATGATCTGTTTCATTAAGCACATCACTCATGACATACTATCTTGTACTGCTGTAGCTTTGCATGTGTGTAACTGTTCATTTGTTTGTCCGTATAATAAGTCCATTATAATAAGTCCATTATAACCTTCTGAAGGTAGGAGTCGCATCTCCTTTTCCTTTAAATGATCCAGAGTGCTTATCGCTCTCTTGTGCACACAGTGTGACTTCAATTAACAATGAACACAAGCACAGTGGTGTCTGGCGTTTAATCCAGATGCTGAAATGTAAGCTTACCCTGAATGGCTGGACCCCAAGCAAACAGATAATACCAACTCAAATGCAGATCAACAATTGTTTCATCTCTGGGAACATTCACAGGGCGTTTAAATCTGCAGGTGACGCGATTGTTCTCAAAAACTTCTTCATCTCTGGCAGGGTTTCTCTGAATCTCCTTTGCCCACTGGCCTACATTATAGAAGTGCTGTATGCGGACCCTGCCATTGTCATCATGGACGCAGGCCATGACATCATCACCACCCTAACATGAGAAATGATTGAGAAAAAAAAAAGTCAAAGGTTCATCTTTTGCACACTGGTCACTAGAAATATACATTCCATCATCTCTGCAATTTGAAATCCCACCAAAAAAATTCTTTTAAGTGCCATTAAAAAGTCTCAACCAGGAGACCAAAGTTACCATCACAATAAGTGACATTCAGTGCCTCCTGACTGATGTTTGGAGAAGACATTACCACCTATGTGGTAATCCTGCCCAAAACACAAACCAACCTAATCAAGAAAAAACAATCAGACAAACTCAAACTGAAGGTCATTCTACAAAAAAAATTAAAAAAATACCTAGCCTATAATCTTCAAGGAGTCAGTGTCATAAAAGACCAAAAAAAGAAAAAAAAAAAAAAGGCTAAGAAACTATTTCAAAATATACATGACAACAAAATGCAGTTCTAGGTGTTCCTACATAGAAATTTGGGCTATAAACCCAAAATTTCCCTAAGGACAGTATTGGGACAAGTAGCAACATATGAAAACAAACAATATATTTAATAATACCATCATATCAATGTTAAACTTCCTGAATTTAATAAACTATATAATAAAAGAGAACATTCTTGATTTTAGGAGATAACCTACTTAAGTATTTAGGGTTAAAGGATTATGATATTTGCTATTTAAATGCCAAAATTCCAGAAAATAACAATCAAAAAAATAATAATCAGTAGTAGTAGCAGTAGCAGTAGCAGTAGCAGCAAGCAGTACAGAGAATAAAGCATGTGTGGCTAATGTCATTATTTATGAAAAAGTTCTGGAACTAGGGAGTAGTGATGGTTGCAGAACACTGAATGTGGTTGATACCACTGCATTGACACTTTAAAATCATAAATTTTGGTGCTACTGCACTCCAGCCCGGATGACAGAGTGAGACCCTTTCTCAAAAAAATAAAATAAAATGGTCAATTCTGGCCAGGTGTGGTGACTAGTGCCTGTCATCCCAACAATGTGGGAAGTCAAGACAGGAGGATCATTTGAGCCCAGAAGTTCAAGACCAGTCTAGGCAATACAGTGAGACACTATCTCTACAAAAAATTAAAAAATTAGCTGGGCATGGGGCTCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTAGGAGGATCGCTGGGGAGGTTGAGGCTGCAGTGAGTCTTGTTTGTGCCACTGCACTGCAGCTTGGGCAATAGGGTGAGACCCTGTCTCAAAAAATAAAAATAAAAAAAAAAATACACAACAACAAAAAATAAAATGGTTAATTTTGTTATGTGCGTTTTACCACAATAAAAAAGTTATTATTTTGTTAATCTAAGTAGCTGTAGTCCCAGCTACTTGGGAGCCTGAGGTGGGAGGGTCACTTAAACCTTTACTATCCTTCCTGCTTGCCTACAGTTTACATTTTTTTCAAAACAAGTTTAAAAAAGTTAAAAGAGTTTGGTCGGGTGTGATGGCTCACGCCTATAATCCCAGCACTGTGGAAAGCTGAGGCAGACCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTTAAAATACAAAAATTAGCTAGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAGTCGCTTGAACCTGAGAGGTGGAGGCTGCAGTGAGCCGAAATAGTGCCACTGAACTCCAAGCCTGGGCAATACAGTAAGACTCCATCACAAAAAAATAAAAAGTTACAAAAAAAAGTGTTAATCAGTTGTAATGCATGTACCATCCTGTGCAGGATGTTGATAATGGGGGAGGCTCCCCAGGGGGTATATGGGAAATCTGTACCTTCGGCTCCATTTCACTGTGAACCTAAAACTGCTGTAAAACGTAAAGTCTAATTAAAACACACACACACGCACACAATAATGNNN | pathogenic | 149,008 |
Is the variant located on chromosome 9 at position 109141485, gene FRRS1L (ferric chelate reductase 1 like), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Developmental_and_epileptic_encephalopathy,_37'] | TGGTAAAGCAATTTCAAATACTTGTTTTCACTTAATCCTTACAATATTTCCATGGAATAGGAAGTATTATTATCCCCACTTTAGATATAAGGAAATGAAATTCAGAAATTAAATAATAGGCTAAATATTATACAGCTACCAAGGGGCAGAACCAATACTCAAACTCAAATTTTTAGACTTCAAATCCCACTATTTTAGATTACTCCATTTCTCCAGGCTGAGATATAATTTATTTCCCAGGGTACCGAAAGTAATTGAAGTTATAACTGCAGAGCCACTGTTGGTAATCTGGGAAATTAGCAAATGGAAAAGGTGTCACCAATCTGGAGACAGTCAAGTGTCTTCCCAATTGGCAACAGGCAAAATAAAAGGTAGATTATGTCATCTCTGGGCTGATTGGTGGAAACGAATTGAAGGAAAAAAACAACCAGATCAGATTAGGCAGCAAATAGTTGATGAGCACACAGTAAAGAAAGATGCAATTACCAGGAGCCAGAATGAATTCTCAGTGCAAGGACTGCAAACCACACTCACTTCCATTCTTGAGCAGGCCCTTAGGCTAATCAACCAGAAGGAATGCTCAAGACTCAGTGTAACTTGATTTTAGCAGTCTCTAAAAGGTCTCATGATATCCTTGGGTCTTTGCTGGGCAAATGCTGCAGAGACTTGCCACCCAAAATGAGGTCATCAATGAACCAGCATGACCAGGGAGCTTATTAGAAATGCAGAATCTTGCCAGGCATGGTAGCTCACACCTGTAATCCCAGCACTTAGGGAGGCCAAAGCTGGTGGATCGGTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAGTTAGCCAGGCATAGTGGCGCATGACTGTAGTCCCAGCTACTTGGGAGCCTGAGGTGGGAGGGTCACTTAAACCTGGGAGGTGGAGGCTGCAGTGAGCTCTGATTGTTTCATTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGGGAGAGGAGGGAAGGGGAGGGGAGACCAGTAGAGGGGAGGAGAGAGGGGAAGACCTACAGAAAACTGCACTTTAACAATATAGCCAGGTAATTCCTATACACATAAATATTTAAGGAGTAATGGGTTAAACTATGGGATAATTTGGTAGATTTGTGACTAACAGAATAGTCACAAAGTGGGCCCTAATGAAATGCTTGGTGTCAATCTCTGGAGAAGTCTCCAGAAGCCCTTCCTGTTCAGTACTTTTTATTATTTCTTTCTTCTTCTTTTTTTTTTTTGAATGGAGACAGGGTCTCACTATAGTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAACCATCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGTCTGGCCCCCGTTCAGTCTTTTTATATTTACAGCATAGGAGTTAAGAGTATTCATGGGCTTTGGGGTCAGACAGACTTAGGATTGAATTTTAATTCTTCTACTAATTAGTTGTATAGCCTTGACCAAGTTTCTTAATCTCTCTAAAATCAGGACAATAATACCTATACCTCTCAAGGACATGGTGAGGAGTAAATAAGAATGCTGTGAGAATTGAACAGAGCCCTACATACAGCAGATACATGATCTGTTTCATTAAGCACATCACTCATGACATACTATCTTGTACTGCTGTAGCTTTGCATGTGTGTAACTGTTCATTTGTTTGTCCGTATAATAAGTCCATTATAATAAGTCCATTATAACCTTCTGAAGGTAGGAGTCGCATCTCCTTTTCCTTTAAATGATCCAGAGTGCTTATCGCTCTCTTGTGCACACAGTGTGACTTCAATTAACAATGAACACAAGCACAGTGGTGTCTGGCGTTTAATCCAGATGCTGAAATGTAAGCTTACCCTGAATGGCTGGACCCCAAGCAAACAGATAATACCAACTCAAATGCAGATCAACAATTGTTTCATCTCTGGGAACATTCACAGGGCGTTTAAATCTGCAGGTGACGCGATTGTTCTCAAAAACTCCTTCTTCATCTCTGGCAGGGTTTCTCTGAATCTCCTTTGCCCACTGGCCTACATTATAGAAGTGCTGTATGCGGACCCTGCCATTGTCATCATGGACGCAGGCCATGACATCATCACCACCCTAACATGAGAAATGATTGAGAAAAAAAAAAGTCAAAGGTTCATCTTTTGCACACTGGTCACTAGAAATATACATTCCATCATCTCTGCAATTTGAAATCCCACCAAAAAAATTCTTTTAAGTGCCATTAAAAAGTCTCAACCAGGAGACCAAAGTTACCATCACAATAAGTGACATTCAGTGCCTCCTGACTGATGTTTGGAGAAGACATTACCACCTATGTGGTAATCCTGCCCAAAACACAAACCAACCTAATCAAGAAAAAACAATCAGACAAACTCAAACTGAAGGTCATTCTACAAAAAAAATTAAAAAAATACCTAGCCTATAATCTTCAAGGAGTCAGTGTCATAAAAGACCAAAAAAAGAAAAAAAAAAAAAAGGCTAAGAAACTATTTCAAAATATACATGACAACAAAATGCAGTTCTAGGTGTTCCTACATAGAAATTTGGGCTATAAACCCAAAATTTCCCTAAGGACAGTATTGGGACAAGTAGCAACATATGAAAACAAACAATATATTTAATAATACCATCATATCAATGTTAAACTTCCTGAATTTAATAAACTATATAATAAAAGAGAACATTCTTGATTTTAGGAGATAACCTACTTAAGTATTTAGGGTTAAAGGATTATGATATTTGCTATTTAAATGCCAAAATTCCAGAAAATAACAATCAAAAAAATAATAATCAGTAGTAGTAGCAGTAGCAGTAGCAGTAGCAGCAAGCAGTACAGAGAATAAAGCATGTGTGGCTAATGTCATTATTTATGAAAAAGTTCTGGAACTAGGGAGTAGTGATGGTTGCAGAACACTGAATGTGGTTGATACCACTGCATTGACACTTTAAAATCATAAATTTTGGTGCTACTGCACTCCAGCCCGGATGACAGAGTGAGACCCTTTCTCAAAAAAATAAAATAAAATGGTCAATTCTGGCCAGGTGTGGTGACTAGTGCCTGTCATCCCAACAATGTGGGAAGTCAAGACAGGAGGATCATTTGAGCCCAGAAGTTCAAGACCAGTCTAGGCAATACAGTGAGACACTATCTCTACAAAAAATTAAAAAATTAGCTGGGCATGGGGCTCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTAGGAGGATCGCTGGGGAGGTTGAGGCTGCAGTGAGTCTTGTTTGTGCCACTGCACTGCAGCTTGGGCAATAGGGTGAGACCCTGTCTCAAAAAATAAAAATAAAAAAAAAAATACACAACAACAAAAAATAAAATGGTTAATTTTGTTATGTGCGTTTTACCACAATAAAAAAGTTATTATTTTGTTAATCTAAGTAGCTGTAGTCCCAGCTACTTGGGAGCCTGAGGTGGGAGGGTCACTTAAACCTTTACTATCCTTCCTGCTTGCCTACAGTTTACATTTTTTTCAAAACAAGTTTAAAAAAGTTAAAAGAGTTTGGTCGGGTGTGATGGCTCACGCCTATAATCCCAGCACTGTGGAAAGCTGAGGCAGACCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTTAAAATACAAAAATTAGCTAGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAGTCGCTTGAACCTGAGAGGTGGAGGCTGCAGTGAGCCGAAATAGTGCCACTGAACTCCAAGCCTGGGCAATACAGTAAGACTCCATCACAAAAAAATAAAAAGTTACAAAAAAAAGTGTTAATCAGTTGTAATGCATGTACCATCCTGTGCAGGATGTTGATAATGGGGGAGGCTCCCCAGGGGGTATATGGGAAATCTGTACCTTCGGCTCCATTTCACTGTGAACCTAAAACTGCTGTAAAACGTAAAGTCTAATTAAAACACACACACACGCACACAATAATGCACCTTTTTTTTTTTTTTTT | TGGTAAAGCAATTTCAAATACTTGTTTTCACTTAATCCTTACAATATTTCCATGGAATAGGAAGTATTATTATCCCCACTTTAGATATAAGGAAATGAAATTCAGAAATTAAATAATAGGCTAAATATTATACAGCTACCAAGGGGCAGAACCAATACTCAAACTCAAATTTTTAGACTTCAAATCCCACTATTTTAGATTACTCCATTTCTCCAGGCTGAGATATAATTTATTTCCCAGGGTACCGAAAGTAATTGAAGTTATAACTGCAGAGCCACTGTTGGTAATCTGGGAAATTAGCAAATGGAAAAGGTGTCACCAATCTGGAGACAGTCAAGTGTCTTCCCAATTGGCAACAGGCAAAATAAAAGGTAGATTATGTCATCTCTGGGCTGATTGGTGGAAACGAATTGAAGGAAAAAAACAACCAGATCAGATTAGGCAGCAAATAGTTGATGAGCACACAGTAAAGAAAGATGCAATTACCAGGAGCCAGAATGAATTCTCAGTGCAAGGACTGCAAACCACACTCACTTCCATTCTTGAGCAGGCCCTTAGGCTAATCAACCAGAAGGAATGCTCAAGACTCAGTGTAACTTGATTTTAGCAGTCTCTAAAAGGTCTCATGATATCCTTGGGTCTTTGCTGGGCAAATGCTGCAGAGACTTGCCACCCAAAATGAGGTCATCAATGAACCAGCATGACCAGGGAGCTTATTAGAAATGCAGAATCTTGCCAGGCATGGTAGCTCACACCTGTAATCCCAGCACTTAGGGAGGCCAAAGCTGGTGGATCGGTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAGTTAGCCAGGCATAGTGGCGCATGACTGTAGTCCCAGCTACTTGGGAGCCTGAGGTGGGAGGGTCACTTAAACCTGGGAGGTGGAGGCTGCAGTGAGCTCTGATTGTTTCATTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGGGAGAGGAGGGAAGGGGAGGGGAGACCAGTAGAGGGGAGGAGAGAGGGGAAGACCTACAGAAAACTGCACTTTAACAATATAGCCAGGTAATTCCTATACACATAAATATTTAAGGAGTAATGGGTTAAACTATGGGATAATTTGGTAGATTTGTGACTAACAGAATAGTCACAAAGTGGGCCCTAATGAAATGCTTGGTGTCAATCTCTGGAGAAGTCTCCAGAAGCCCTTCCTGTTCAGTACTTTTTATTATTTCTTTCTTCTTCTTTTTTTTTTTTGAATGGAGACAGGGTCTCACTATAGTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAACCATCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGTCTGGCCCCCGTTCAGTCTTTTTATATTTACAGCATAGGAGTTAAGAGTATTCATGGGCTTTGGGGTCAGACAGACTTAGGATTGAATTTTAATTCTTCTACTAATTAGTTGTATAGCCTTGACCAAGTTTCTTAATCTCTCTAAAATCAGGACAATAATACCTATACCTCTCAAGGACATGGTGAGGAGTAAATAAGAATGCTGTGAGAATTGAACAGAGCCCTACATACAGCAGATACATGATCTGTTTCATTAAGCACATCACTCATGACATACTATCTTGTACTGCTGTAGCTTTGCATGTGTGTAACTGTTCATTTGTTTGTCCGTATAATAAGTCCATTATAATAAGTCCATTATAACCTTCTGAAGGTAGGAGTCGCATCTCCTTTTCCTTTAAATGATCCAGAGTGCTTATCGCTCTCTTGTGCACACAGTGTGACTTCAATTAACAATGAACACAAGCACAGTGGTGTCTGGCGTTTAATCCAGATGCTGAAATGTAAGCTTACCCTGAATGGCTGGACCCCAAGCAAACAGATAATACCAACTCAAATGCAGATCAACAATTGTTTCATCTCTGGGAACATTCACAGGGCGTTTAAATCTGCAGGTGACGCGATTGTTCTCAAAAACTCCTTCTTCATCTCTGGCAGGTTTCTCTGAATCTCCTTTGCCCACTGGCCTACATTATAGAAGTGCTGTATGCGGACCCTGCCATTGTCATCATGGACGCAGGCCATGACATCATCACCACCCTAACATGAGAAATGATTGAGAAAAAAAAAAGTCAAAGGTTCATCTTTTGCACACTGGTCACTAGAAATATACATTCCATCATCTCTGCAATTTGAAATCCCACCAAAAAAATTCTTTTAAGTGCCATTAAAAAGTCTCAACCAGGAGACCAAAGTTACCATCACAATAAGTGACATTCAGTGCCTCCTGACTGATGTTTGGAGAAGACATTACCACCTATGTGGTAATCCTGCCCAAAACACAAACCAACCTAATCAAGAAAAAACAATCAGACAAACTCAAACTGAAGGTCATTCTACAAAAAAAATTAAAAAAATACCTAGCCTATAATCTTCAAGGAGTCAGTGTCATAAAAGACCAAAAAAAGAAAAAAAAAAAAAAGGCTAAGAAACTATTTCAAAATATACATGACAACAAAATGCAGTTCTAGGTGTTCCTACATAGAAATTTGGGCTATAAACCCAAAATTTCCCTAAGGACAGTATTGGGACAAGTAGCAACATATGAAAACAAACAATATATTTAATAATACCATCATATCAATGTTAAACTTCCTGAATTTAATAAACTATATAATAAAAGAGAACATTCTTGATTTTAGGAGATAACCTACTTAAGTATTTAGGGTTAAAGGATTATGATATTTGCTATTTAAATGCCAAAATTCCAGAAAATAACAATCAAAAAAATAATAATCAGTAGTAGTAGCAGTAGCAGTAGCAGTAGCAGCAAGCAGTACAGAGAATAAAGCATGTGTGGCTAATGTCATTATTTATGAAAAAGTTCTGGAACTAGGGAGTAGTGATGGTTGCAGAACACTGAATGTGGTTGATACCACTGCATTGACACTTTAAAATCATAAATTTTGGTGCTACTGCACTCCAGCCCGGATGACAGAGTGAGACCCTTTCTCAAAAAAATAAAATAAAATGGTCAATTCTGGCCAGGTGTGGTGACTAGTGCCTGTCATCCCAACAATGTGGGAAGTCAAGACAGGAGGATCATTTGAGCCCAGAAGTTCAAGACCAGTCTAGGCAATACAGTGAGACACTATCTCTACAAAAAATTAAAAAATTAGCTGGGCATGGGGCTCATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTAGGAGGATCGCTGGGGAGGTTGAGGCTGCAGTGAGTCTTGTTTGTGCCACTGCACTGCAGCTTGGGCAATAGGGTGAGACCCTGTCTCAAAAAATAAAAATAAAAAAAAAAATACACAACAACAAAAAATAAAATGGTTAATTTTGTTATGTGCGTTTTACCACAATAAAAAAGTTATTATTTTGTTAATCTAAGTAGCTGTAGTCCCAGCTACTTGGGAGCCTGAGGTGGGAGGGTCACTTAAACCTTTACTATCCTTCCTGCTTGCCTACAGTTTACATTTTTTTCAAAACAAGTTTAAAAAAGTTAAAAGAGTTTGGTCGGGTGTGATGGCTCACGCCTATAATCCCAGCACTGTGGAAAGCTGAGGCAGACCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTTAAAATACAAAAATTAGCTAGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAGTCGCTTGAACCTGAGAGGTGGAGGCTGCAGTGAGCCGAAATAGTGCCACTGAACTCCAAGCCTGGGCAATACAGTAAGACTCCATCACAAAAAAATAAAAAGTTACAAAAAAAAGTGTTAATCAGTTGTAATGCATGTACCATCCTGTGCAGGATGTTGATAATGGGGGAGGCTCCCCAGGGGGTATATGGGAAATCTGTACCTTCGGCTCCATTTCACTGTGAACCTAAAACTGCTGTAAAACGTAAAGTCTAATTAAAACACACACACACGCACACAATAATGCACCTTTTTTTTTTTTTTTTN | pathogenic | 149,010 |
Located at chromosome 9 position 109149675, the variant affecting gene FRRS1L (ferric chelate reductase 1 like)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Chorea', 'Developmental_and_epileptic_encephalopathy,_37', 'Progressive_encephalopathy', 'Seizure'] | TAACTTACAAATTTTCATATAATCAAACTAACACAAATTTACAAATTCAATATAAATTAAACTAATAAACCAGGAACATTGAAATTCACAGCACTCATGCAACAGATAATGGGGCTTTACTGAAAGTAAATTTCTGCTTATGTGCATGTGGTATCCGATTAGATCGTGCAGGGTCTTTGGAGTTGAGAGCATGTTCTTACTACTCTCTATAGCATGATGGCTCAACTCTTCACTTTTATCTGTTTGAACTGCTGCAAAATCCTTATTTATGCGATACACCAAATGAATACCCCCATCTGGTACTCATGAACCATGAATGAATGCAATATTTATTTACAATTTTTTTTTCTTTTTTTTTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGCGGGATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGACTACAGGCATGGGTCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCTTGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGTCAAGCCACTGTGCTTGGCCTTATTTATAAAATTTGCCTTTGTTCTGTTGGGCTACTTGCTGCTAATATAATTACAAATTCAGACACTAAAACATACAACAATATAAGGTGATTATCCAGATAGTGAGATTATGCAGACATTCATGTTTTTTTGAGAGCACCACTGAAATGAAAACACAAATTTAAATTTTCTTACAGAGCACTTGTGGATCCTTTCAGAACTGGCAAGCCCTGGTTTGAGGAACACTGTATTACACCATTTGCAGAATGGTAGAAAGTTGAAGCAATGGGTGGGACAATATACGCGCAGATGGAAGGTATCTAAAGGAACAGGGCACAGGGGTGCTAAGTGTTGAGGAGGGGACAGAAATGTACTACTATGCTGGCAGAAATACCCGAGCAGTCAGGAAGAGATATAATAGGATCAAGGCAACAGGGCACTGGGGTGAAAAAGATGAAAAGGAGCAAGGGAAGTTAAAAAAAGGAGTAAATGGACAAGAAAACAAGTCACTTTGAAGCCAGTAGAGTACTAAAATTCCCTCCCTTCTCAAAATATCCCCCAATCACCAGGTTTATACATTGCTGACCATCTTCCTCAATAAGAACATTTTTGGCTATTTTTATTCATTCCTTAGAAGTGGCCTTGTAATCCAAAGAAAGCTCAAAGCCCCTGTATTCAATTTTTCCTTCTTAGACCTTAAGTACTGAACAACAGCAAAATCAGAACCTTCAGTACAGTGACCATCAAAACTTTGCCCCTGACCATCAAATTATTCAGGGGCAATTTGTTTTAGGAAGTAAAGGGTTCAAAGGAGGAGGCTTTCCCAAAGAAGCTGAGCTGTCTAGATGGGAGGCCCATTGTCCACATGACTGTTTTCTAGCCCAGCCCGTCATGTCGTGATACTACTAATAATCATGTAGAGACTCACCATGCCTGAGATAACAAGCTAGCAACAATGAATGCTTAATGACTAGTTAGAATCATACAGATATCCATAGGTCAGGACTATTTACTAAAAAAGGAATTGGGTACTAAACATGTCTATCATTGCCTGTCCTGCCCACAGCCCCTGCTGAATAAGCACAGACACGTTCTGTGTCACATGAGTCTTCTGCATATCAGCAATTGGTGAGTAGGAGACACCTGGAGCAATGGTGGTACAGCTAGAAAAGAACCATGGAAGAATGGTCCCGGGCCCAGGACATACTAAAGTTAAAAGGCCTTTAAGACTGAAAAGCGGGATGGCCGTTACGAAACTTCATAACCCTGCTGAGGTGATCAAGGAGCTCAGGCCCCCTGATTAGAAGGAACTGCATGCAATTTAAATACTACCCTGAGAAGTAAATCAGTCTTAGCCTTAAAGTTATCCAACCTGCAGTTCCACCAACCTAAAGCATCCCTTAGTTTTTCCACAGTCGTCCACTTTGATTTTGGCAAATGGATCCACAGGAGGAGCAGTAGGGAAGGGGTAACCTGGGCAGTGAGAATAAAGAAGGGTTAGAAAATCCAGTAACAACTGTTCCAATGAGAATTTTTAAAAATGTGTTGACTGTTTTTTCTCACACATATCGAGAAATGTTTGGGGACTCAGAAAATGGCTTTGATGAAGGCTAATCATCCCCTTCATGGGGGAGGGTGTAGGACACACACCTTTGGACCTAATCTTGCATGTGAACTGAGAGTAGGTGTGTCCTTTTCTCACTTTACAGGAGAGGAACCTGGGGCACTGAGAGAGGCACAATTTCATATAACCACGGGCTTACCGCTGTCCCCTGGGAGTTTGAGAATCACACGTTTAATACAATATACATGTTCTAAGAGAAAAAAGTTAACAGTGATACATTTATATACTTGATAGTGGGATTTTTCCATTTATATACTTGATAACAGGATTTTTCCATTCCATTTTCAACTTCCATTTTGCGTTAACCTGTAGGTAACATTTTCTTAGGTCACTAAATTCTTTGTTTTTGTTTTTTGTTGTTTTTGAGACAGAGTCTCCCTCTGTTGCCCAGGTTGGAGTGCAGTGGTGCCATCCTGGCTCACTGCAACCTGTCTCCTAGGTTCAAGGGATTCTCTTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCGGCCATCAAACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGCCTAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCCACAGTCCTCAGCCTCCCAAAGTGCTAGGGTTACAGGTATAAGCCACCGCACCCAACTTGTCGCTAAATTCTTTAAACACATAATTTCTAACAGTTGTCTATCTTTCTTATAAGATTACTTACCACCATAATGCATCAAACCATACACCATAATGCATCAAACCATACCATACCCAACTTGTCGCTAAATTCTTTAAACACATAATTTCTAACAGTTGTCTATCTTTCTTATAAGATTACTTACCACCATAATGCATCAAACCATACATTGAAGGGTAAGGCTGCATTATGCCTCCACTTTGTGAGAGAAATCTTTTCTCCTAGGCTGTTTACTCCACGTACACAGGAATCATGTGAGACTTATCTTGTATTCTCTGCCCAGCATAGTGCTTGGCACTGGACACTGAATAAATGATTGTCAAAGGAATAAATAAAATCACCCACAGACATTAGGAAATGTAAATCAGTACAAACTTTTAAAAATCATTCTATTTTATGAGTTTTTTTCTTGTTATTTTTAAGTTTTTTCTTTGGGATTTGTAATGCTACTTTTTTTAAAGTGAGGCTTTGCTAATTTTGTCCATTAGATTTATTATACTTTAAAAAAGCCACCAGGTCACACTTTTCTGGCACACTTCTGTGCACTCTGAATAGTCCATTTTTACTATCCTGGACCTTGATCACATCATAAAGTACAATCCTAACTTTTTACCACCAAAGTAGTTGGATCAAATGCATTACTTTTTCTAGTTTTATGCTTATTTTATGCTAAGTCCTATATCTGCTTCAGTACTAGAGACCAGGGATCCCCAATCCCTGGGCCACTAACCAGTACCAGTCCATGGCCTGTTAGGAACTAAGCCGCACAGCAGGAGGTGAGTGGCAGGCAAGCAAGCGAAGCTTCACCTGTATTTATAGCCACTCCCCATGGCTTGCATAACTGCCTGAGCTCCACCTCCTCTTAGATCAGCAGTGGCATTAGATTCTCATAGGAGTGCAGTCCCTATTGTGAACTGCATATGTGAAGGATGTAGGTTGTACGCTCCTTATGAGAATCTAATGCCTGATGATCTGCCACTGTCTCCCATCACCCCCAAATGAGACCTTCTAGTTGCAGGAAAACAAGCTCAGGGCTCCCACTGATTCTACATTATGGTGAGTTGTATAATTATTTCATTATATATTACAATGTCATAATAATAGAAATAAAGTGCACAATAAATGTAATGTACTTGAATCACCCAAAAACCTTCCCCTTGACCCAG | TAACTTACAAATTTTCATATAATCAAACTAACACAAATTTACAAATTCAATATAAATTAAACTAATAAACCAGGAACATTGAAATTCACAGCACTCATGCAACAGATAATGGGGCTTTACTGAAAGTAAATTTCTGCTTATGTGCATGTGGTATCCGATTAGATCGTGCAGGGTCTTTGGAGTTGAGAGCATGTTCTTACTACTCTCTATAGCATGATGGCTCAACTCTTCACTTTTATCTGTTTGAACTGCTGCAAAATCCTTATTTATGCGATACACCAAATGAATACCCCCATCTGGTACTCATGAACCATGAATGAATGCAATATTTATTTACAATTTTTTTTTCTTTTTTTTTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGCGGGATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGACTACAGGCATGGGTCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCTTGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGTCAAGCCACTGTGCTTGGCCTTATTTATAAAATTTGCCTTTGTTCTGTTGGGCTACTTGCTGCTAATATAATTACAAATTCAGACACTAAAACATACAACAATATAAGGTGATTATCCAGATAGTGAGATTATGCAGACATTCATGTTTTTTTGAGAGCACCACTGAAATGAAAACACAAATTTAAATTTTCTTACAGAGCACTTGTGGATCCTTTCAGAACTGGCAAGCCCTGGTTTGAGGAACACTGTATTACACCATTTGCAGAATGGTAGAAAGTTGAAGCAATGGGTGGGACAATATACGCGCAGATGGAAGGTATCTAAAGGAACAGGGCACAGGGGTGCTAAGTGTTGAGGAGGGGACAGAAATGTACTACTATGCTGGCAGAAATACCCGAGCAGTCAGGAAGAGATATAATAGGATCAAGGCAACAGGGCACTGGGGTGAAAAAGATGAAAAGGAGCAAGGGAAGTTAAAAAAAGGAGTAAATGGACAAGAAAACAAGTCACTTTGAAGCCAGTAGAGTACTAAAATTCCCTCCCTTCTCAAAATATCCCCCAATCACCAGGTTTATACATTGCTGACCATCTTCCTCAATAAGAACATTTTTGGCTATTTTTATTCATTCCTTAGAAGTGGCCTTGTAATCCAAAGAAAGCTCAAAGCCCCTGTATTCAATTTTTCCTTCTTAGACCTTAAGTACTGAACAACAGCAAAATCAGAACCTTCAGTACAGTGACCATCAAAACTTTGCCCCTGACCATCAAATTATTCAGGGGCAATTTGTTTTAGGAAGTAAAGGGTTCAAAGGAGGAGGCTTTCCCAAAGAAGCTGAGCTGTCTAGATGGGAGGCCCATTGTCCACATGACTGTTTTCTAGCCCAGCCCGTCATGTCGTGATACTACTAATAATCATGTAGAGACTCACCATGCCTGAGATAACAAGCTAGCAACAATGAATGCTTAATGACTAGTTAGAATCATACAGATATCCATAGGTCAGGACTATTTACTAAAAAAGGAATTGGGTACTAAACATGTCTATCATTGCCTGTCCTGCCCACAGCCCCTGCTGAATAAGCACAGACACGTTCTGTGTCACATGAGTCTTCTGCATATCAGCAATTGGTGAGTAGGAGACACCTGGAGCAATGGTGGTACAGCTAGAAAAGAACCATGGAAGAATGGTCCCGGGCCCAGGACATACTAAAGTTAAAAGGCCTTTAAGACTGAAAAGCGGGATGGCCGTTACGAAACTTCATAACCCTGCTGAGGTGATCAAGGAGCTCAGGCCCCCTGATTAGAAGGAACTGCATGCAATTTAAATACTACCCTGAGAAGTAAATCAGTCTTAGCCTTAAAGTTATCCAACCTGCAGTTCCACCAACCTAAAGCATCCCTTAGTTTTTCCACAGTCGTCCACTTTGATTTTTGGCAAATGGATCCACAGGAGGAGCAGTAGGGAAGGGGTAACCTGGGCAGTGAGAATAAAGAAGGGTTAGAAAATCCAGTAACAACTGTTCCAATGAGAATTTTTAAAAATGTGTTGACTGTTTTTTCTCACACATATCGAGAAATGTTTGGGGACTCAGAAAATGGCTTTGATGAAGGCTAATCATCCCCTTCATGGGGGAGGGTGTAGGACACACACCTTTGGACCTAATCTTGCATGTGAACTGAGAGTAGGTGTGTCCTTTTCTCACTTTACAGGAGAGGAACCTGGGGCACTGAGAGAGGCACAATTTCATATAACCACGGGCTTACCGCTGTCCCCTGGGAGTTTGAGAATCACACGTTTAATACAATATACATGTTCTAAGAGAAAAAAGTTAACAGTGATACATTTATATACTTGATAGTGGGATTTTTCCATTTATATACTTGATAACAGGATTTTTCCATTCCATTTTCAACTTCCATTTTGCGTTAACCTGTAGGTAACATTTTCTTAGGTCACTAAATTCTTTGTTTTTGTTTTTTGTTGTTTTTGAGACAGAGTCTCCCTCTGTTGCCCAGGTTGGAGTGCAGTGGTGCCATCCTGGCTCACTGCAACCTGTCTCCTAGGTTCAAGGGATTCTCTTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCGGCCATCAAACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGCCTAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCCACAGTCCTCAGCCTCCCAAAGTGCTAGGGTTACAGGTATAAGCCACCGCACCCAACTTGTCGCTAAATTCTTTAAACACATAATTTCTAACAGTTGTCTATCTTTCTTATAAGATTACTTACCACCATAATGCATCAAACCATACACCATAATGCATCAAACCATACCATACCCAACTTGTCGCTAAATTCTTTAAACACATAATTTCTAACAGTTGTCTATCTTTCTTATAAGATTACTTACCACCATAATGCATCAAACCATACATTGAAGGGTAAGGCTGCATTATGCCTCCACTTTGTGAGAGAAATCTTTTCTCCTAGGCTGTTTACTCCACGTACACAGGAATCATGTGAGACTTATCTTGTATTCTCTGCCCAGCATAGTGCTTGGCACTGGACACTGAATAAATGATTGTCAAAGGAATAAATAAAATCACCCACAGACATTAGGAAATGTAAATCAGTACAAACTTTTAAAAATCATTCTATTTTATGAGTTTTTTTCTTGTTATTTTTAAGTTTTTTCTTTGGGATTTGTAATGCTACTTTTTTTAAAGTGAGGCTTTGCTAATTTTGTCCATTAGATTTATTATACTTTAAAAAAGCCACCAGGTCACACTTTTCTGGCACACTTCTGTGCACTCTGAATAGTCCATTTTTACTATCCTGGACCTTGATCACATCATAAAGTACAATCCTAACTTTTTACCACCAAAGTAGTTGGATCAAATGCATTACTTTTTCTAGTTTTATGCTTATTTTATGCTAAGTCCTATATCTGCTTCAGTACTAGAGACCAGGGATCCCCAATCCCTGGGCCACTAACCAGTACCAGTCCATGGCCTGTTAGGAACTAAGCCGCACAGCAGGAGGTGAGTGGCAGGCAAGCAAGCGAAGCTTCACCTGTATTTATAGCCACTCCCCATGGCTTGCATAACTGCCTGAGCTCCACCTCCTCTTAGATCAGCAGTGGCATTAGATTCTCATAGGAGTGCAGTCCCTATTGTGAACTGCATATGTGAAGGATGTAGGTTGTACGCTCCTTATGAGAATCTAATGCCTGATGATCTGCCACTGTCTCCCATCACCCCCAAATGAGACCTTCTAGTTGCAGGAAAACAAGCTCAGGGCTCCCACTGATTCTACATTATGGTGAGTTGTATAATTATTTCATTATATATTACAATGTCATAATAATAGAAATAAAGTGCACAATAAATGTAATGTACTTGAATCACCCAAAAACCTTCCCCTTGACCCA | pathogenic | 149,017 |
Gene FRRS1L (ferric chelate reductase 1 like) variant at chromosome position 109167140 on chromosome 9: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ACCTGGCAGCACTAGGCTGTGTACAGTGTAAAGATACATTAGATGCTTTCAGAAACAGACGGGCTTCGGAATATTTATTCTTTTCCAGAGTGACAGATTCCGCCACATGGCTCTCCAGCTAGAAGACTACATTTCTTAGTCTCCCTTGAAGCTAGGTCATTGTAACTATGTTTTTGCCAAAGGAATGTGAACAGCAGTAATGTGGGCAGCCAGCCTAAAAGGTAACTACTTGCCCTGAACTTCTCTTTTTCTTTCCCTCAATCTTGAACAAGGACATGCAACCTGGCTTCTACTGTACTGATGAGGACAAAGCCTCAGGGGGATGGCAGAGCAACAAGATGGAAAGAACCCGGGTCCCTGAATGACCTTGCGGAACAGAGTCATCCCACCAGCCCCAGACCAACCAGACTCTTATCAGAGAGAAAAATAAACTAGCTTATTTAAACCACTATATGTTAAAATCTCTAATTCAGCAGTTAAGCCTCTACTTAATACATTTCCCCAAATCCATTCTCTCCATCTTCTTTAATACAATAATTCTGATTTTTGAACTGGGCATATTATGTCTCAGCTAATAGGCTCTATTTTACATCCTCCTTTGTACCTATGTGCAACCATATGATTAAGTTGTGGCCAAAGAAGTATAAAAATTGTTATATGAAACTTCCGAGTAATCCCTTTATAAAGTAGTCAGTGACCTTCTTCCTGCTTCATTTTTCCCACTGTCTAGAATGTGAACATAATGGCTGTAGCTCAAGCAGTTATTTTGAACCATGAAGTTACATGCTAAGAATTGTGAAGAAACAGAAGGGCAGGATCCAGAGACACTGGTGACCAAGGAGCCTCCAGACCAGTTCTGGATTACCTATTTCTAGTTTTCTTTCTGTAAGAGAGAAACTTCTATCTTGTTGAAGCTATTAATGTTTGCTTGTTGTATACAGCTGAACTTAATCCTAACAACAGACACATCCACTAACAGATATGAGCTCCTGGGACTCAACACTTCAAACCCCAGCTTGATGGTTGGATATCCCTCTTAGCAGAAGAAAAGGAAAGTCACTACTTCCCAAAGTTGCTTAAAGAGGCCAGTTTCCATTCCTTCTGACCACCATCCGCTTGGCTTTTGTGCTCGTTGAAGCAGCTCTACAGGGAGGCCCTTGGCTGACAAACTCCCAGTCTGCGGGCCCAGCAGGCCACAACAATGGTGGCTCGCACTAGGGGACCATAACATATGTGGCGTCATAAAAGAGGAGGGATGGGAGTGGGGAGGCTGATGTGACCCAGCTCTGACGGGTCAGTGAGCAGGAACAGAATGCTACGAGGTGGGCGCTGGTCACTGCAAATTTAAGTCAATACAGACAGGGAGGAAATAAGGCAACCTCTCTCTTTAGGTTGGGGTTTTTCTGCTTCCCCCTAGCTGCCCTGGCCAGATGGCGGCCTCCTCCCCTATAACCCAACCCCAGGCGGCAAAGGTGGAAGCCAGATCTAAGAACTGGGGGAGCTTAGACTCAGCACCCACCCCTATCCACAGCCTTGCAGAACTTGGATGACCCCTCCCTCTCCCAGCCTCACTCTCCCCATCTGTAAAGCGGGCGGCAGGCATTGACAGCTCTTTGGGCCTTTCCTCCAGGCCGGCGGAGGCCTGGGCACTGCGCTCCCCATCCTGGCCTCGCCTCTGCAAGAGCTGCCTCCACGGACATCTTTTCCGACCCCCTCCCCCTCCCTCGCCCCCTCTCCTCGTTCCCCCGATCCTCGGTCCCCCACCCCCGGTCTCCCCTCCCGCAACCCCTCGCCCTCCCGCAGCCTCACCCTCCTCCGACAGGTAGCGCAGGTCGTAGAACTCCCCCGCGAAGGTGCCGTAGGAGGAGTCGTGGCGCGGCACCGCCTCGTCGGCGCCCGTGTCCCCCCGCGCGCGTCCCCGGGGTCCCCGGCCCCCCGGGCCCGCACCGTCGTCCGCGGGGCTGGCTGCGCAGGCGGCGGGCCCCGTCAGTAGCAGCAGGAGCAGCGACGCCCAGACCCCCGGGTGCTGCCGGGGCGGCCGCGCCATCCGTGCGCACAGATCCCGCAGCCAGGCCGCTCGGGCCGCAGCGGGGGCGCCGCGGGCGCGGGCCGGGACTGAGCCTCCGCCGAGGCCACCAGCACGCGCCCGCGCAGCCGCGGAGCCTCCCGCACCCCCGCCTCCCTGCCTCGGTCTGCGCATCCTCGCTCCAGCACCGCAGCCTCCCCCTTCTTCTTGGAACCCCCCTCCTCCCCGCACCGATCTCTCCTTCCTAGCAGCTTCCCTTCTACCGTCCTTCTTTCCATTCTCCCCATCTCCCCGACTTCCCTCCACGCAGGCAGATTTGGCCCTTCTGGCCCCTTGCTACTCCGGAGTGTGGTCCGCGGACCGGCAGCATCAGCATCACCTGGAAGCTTGTTAGCATCGCTGAGGCCCCACTCCAGACCCATGAAGCGGGATGTTCATTTCATCAAAATTCCCAGGAGATCCCAATGCACGTTCAATTTATGAAACGCTCCTCTAGAGAGTTTACCCTGGACACACCTGGTCAGTGCTGCCTCCTCAACCTTGTGCCGGCACTTTTTGGTTTACATAAAGCACTTGCTAGACCTATTATTTCTTGGATCATCACAGAAGGAACTTGAAATTGCAAGACCCCCACAATAGAGCTAGGTAAACTGAGGTGTTTAGAGACAGAGAAAACTGGATTCACCTGCTTCCTCTCCAGGCTCTTGCGGTGTGTAATCAACAGAGGCTGGTGCCAGTAGGTAACCTGTTCCCCTTCAAAACTAGGCTTCTGGTTTACTCTCTTTCCCTGCAGCAAGCACGCGCAGGCCTTGGAAGGCCCACACCGTATCTGAGGGCCATGCTGAATTGTTGATTTTTCTCAAATCCATTCCTGCTGCTTGCAGTTCACTTTTGGCTATTTACTCAGCCATCCATTGATTCACACCAAGCATTTGCTTTATGGCAGGTCCCAGGGTTCTCTTTTGATGATGGTTGTTGGGGTGATATATTCGAATTGCTAAGCTGTTTTCCATCAGAGAGGCGGACGCAATTCCTTTCAGGCTGGTGTTGCAGAGCCAGCATTTTAACCTGCTTTTCCTATTTTATTATTTTATTTTATTGCATAAACAAAATAATTATGGAGGCAGAAAAGCATAGAGGTCCCAAATGCAGACCTAGAAGTCAGACTGCCTGATCTCTCATGATTAGTCATTGACATGATGCAATGAAGATTAGGGAAGATCATAGAGGTAAGGATCAATAGGGTTCAGTGCTGTAAGTGGCATGCACACATGTACACAATATTGTGAAATGTTAATATTCAAAAGGAAACTAGTGATCTTAACCCTTTATGGCCTGATTGGCTGAGAGATAAGGGTAGTGCTGTTGAAACAGGGGAGACATGATGGGGGACTTAGAAGTCAGGTATTTTCTATTAGGTATCAGCTAACAGTGGGCTGTCCAACTGGAATTTAAACATATTAATCCTGATGGCTGAATTGAGGTGTAATTCATGAAAACCTTGGGCTTCACTAGGTCCCCCAACATAGCAGTTGTCACAAAAAATAGATCAGATTATTTGAAAAAGGTAAGATGAACTATGATTACTTTAAAAACTCAAGAGACTTCTTCCCAAAAAGCATAGCGTGGCAATGCATAACATTCTAAAAAAGCTGATCCAACAGATTGAAAATCTGTTAAAGTGTAGTCCTTCAAAAAAAAAAAAAAAAACAAAAACAAAAACAAAAACCTTAAACCTTTCTTAAAAATTAAAATTTCTTTATTTTCTTTTCTTCTCTTTCTGTTCACCAGGGAAGGTATGGTCAACTTAGAATGGACCAAAGTTTAGCCAAAAAAATAAAGCATTAGACTTTTGATTTCAGTGTAGATTCTCTGGTTTGGGAATACAAGCTTTTACCTCTTACTTTCCTTTTTATTCCCTTCATTTTGGTTACTGAAATTAACAATAACGGTGCCCAAATAGAAGGCAAATGAAAACCAGGCCATTCTTCTCCGAGTAAATTAATCTGATATAAAAACACGTGGGCAGCCGGGCACGGTGGCTCACGCCTGTAACTCCAGCACTTTGGG | ACCTGGCAGCACTAGGCTGTGTACAGTGTAAAGATACATTAGATGCTTTCAGAAACAGACGGGCTTCGGAATATTTATTCTTTTCCAGAGTGACAGATTCCGCCACATGGCTCTCCAGCTAGAAGACTACATTTCTTAGTCTCCCTTGAAGCTAGGTCATTGTAACTATGTTTTTGCCAAAGGAATGTGAACAGCAGTAATGTGGGCAGCCAGCCTAAAAGGTAACTACTTGCCCTGAACTTCTCTTTTTCTTTCCCTCAATCTTGAACAAGGACATGCAACCTGGCTTCTACTGTACTGATGAGGACAAAGCCTCAGGGGGATGGCAGAGCAACAAGATGGAAAGAACCCGGGTCCCTGAATGACCTTGCGGAACAGAGTCATCCCACCAGCCCCAGACCAACCAGACTCTTATCAGAGAGAAAAATAAACTAGCTTATTTAAACCACTATATGTTAAAATCTCTAATTCAGCAGTTAAGCCTCTACTTAATACATTTCCCCAAATCCATTCTCTCCATCTTCTTTAATACAATAATTCTGATTTTTGAACTGGGCATATTATGTCTCAGCTAATAGGCTCTATTTTACATCCTCCTTTGTACCTATGTGCAACCATATGATTAAGTTGTGGCCAAAGAAGTATAAAAATTGTTATATGAAACTTCCGAGTAATCCCTTTATAAAGTAGTCAGTGACCTTCTTCCTGCTTCATTTTTCCCACTGTCTAGAATGTGAACATAATGGCTGTAGCTCAAGCAGTTATTTTGAACCATGAAGTTACATGCTAAGAATTGTGAAGAAACAGAAGGGCAGGATCCAGAGACACTGGTGACCAAGGAGCCTCCAGACCAGTTCTGGATTACCTATTTCTAGTTTTCTTTCTGTAAGAGAGAAACTTCTATCTTGTTGAAGCTATTAATGTTTGCTTGTTGTATACAGCTGAACTTAATCCTAACAACAGACACATCCACTAACAGATATGAGCTCCTGGGACTCAACACTTCAAACCCCAGCTTGATGGTTGGATATCCCTCTTAGCAGAAGAAAAGGAAAGTCACTACTTCCCAAAGTTGCTTAAAGAGGCCAGTTTCCATTCCTTCTGACCACCATCCGCTTGGCTTTTGTGCTCGTTGAAGCAGCTCTACAGGGAGGCCCTTGGCTGACAAACTCCCAGTCTGCGGGCCCAGCAGGCCACAACAATGGTGGCTCGCACTAGGGGACCATAACATATGTGGCGTCATAAAAGAGGAGGGATGGGAGTGGGGAGGCTGATGTGACCCAGCTCTGACGGGTCAGTGAGCAGGAACAGAATGCTACGAGGTGGGCGCTGGTCACTGCAAATTTAAGTCAATACAGACAGGGAGGAAATAAGGCAACCTCTCTCTTTAGGTTGGGGTTTTTCTGCTTCCCCCTAGCTGCCCTGGCCAGATGGCGGCCTCCTCCCCTATAACCCAACCCCAGGCGGCAAAGGTGGAAGCCAGATCTAAGAACTGGGGGAGCTTAGACTCAGCACCCACCCCTATCCACAGCCTTGCAGAACTTGGATGACCCCTCCCTCTCCCAGCCTCACTCTCCCCATCTGTAAAGCGGGCGGCAGGCATTGACAGCTCTTTGGGCCTTTCCTCCAGGCCGGCGGAGGCCTGGGCACTGCGCTCCCCATCCTGGCCTCGCCTCTGCAAGAGCTGCCTCCACGGACATCTTTTCCGACCCCCTCCCCCTCCCTCGCCCCCTCTCCTCGTTCCCCCGATCCTCGGTCCCCCACCCCCGGTCTCCCCTCCCGCAACCCCTCGCCCTCCCGCAGCCTCACCCTCCTCCGACAGGTAGCGCAGGTCGTAGAACTCCCCCGCGAAGGTGCCGTAGGAGGAGTCGTGGCGCGGCACCGCCTCGTCGGCGCCCGTGTCCCCCCGCGCGCGTCCCCGGGGTCCCCGGCCCCCCGGGCCCGCACCGTCGTCCGCGGGGCTGGCTGCGCAGGCGGCGGGCCCCGTCAGTAGCAGCAGGAGCAGCGACGCCCAGACCCCCGGGTGCTGCCGGGGCGGCCGCGCCATCGCTGCGCACAGATCCCGCAGCCAGGCCGCTCGGGCCGCAGCGGGGGCGCCGCGGGCGCGGGCCGGGACTGAGCCTCCGCCGAGGCCACCAGCACGCGCCCGCGCAGCCGCGGAGCCTCCCGCACCCCCGCCTCCCTGCCTCGGTCTGCGCATCCTCGCTCCAGCACCGCAGCCTCCCCCTTCTTCTTGGAACCCCCCTCCTCCCCGCACCGATCTCTCCTTCCTAGCAGCTTCCCTTCTACCGTCCTTCTTTCCATTCTCCCCATCTCCCCGACTTCCCTCCACGCAGGCAGATTTGGCCCTTCTGGCCCCTTGCTACTCCGGAGTGTGGTCCGCGGACCGGCAGCATCAGCATCACCTGGAAGCTTGTTAGCATCGCTGAGGCCCCACTCCAGACCCATGAAGCGGGATGTTCATTTCATCAAAATTCCCAGGAGATCCCAATGCACGTTCAATTTATGAAACGCTCCTCTAGAGAGTTTACCCTGGACACACCTGGTCAGTGCTGCCTCCTCAACCTTGTGCCGGCACTTTTTGGTTTACATAAAGCACTTGCTAGACCTATTATTTCTTGGATCATCACAGAAGGAACTTGAAATTGCAAGACCCCCACAATAGAGCTAGGTAAACTGAGGTGTTTAGAGACAGAGAAAACTGGATTCACCTGCTTCCTCTCCAGGCTCTTGCGGTGTGTAATCAACAGAGGCTGGTGCCAGTAGGTAACCTGTTCCCCTTCAAAACTAGGCTTCTGGTTTACTCTCTTTCCCTGCAGCAAGCACGCGCAGGCCTTGGAAGGCCCACACCGTATCTGAGGGCCATGCTGAATTGTTGATTTTTCTCAAATCCATTCCTGCTGCTTGCAGTTCACTTTTGGCTATTTACTCAGCCATCCATTGATTCACACCAAGCATTTGCTTTATGGCAGGTCCCAGGGTTCTCTTTTGATGATGGTTGTTGGGGTGATATATTCGAATTGCTAAGCTGTTTTCCATCAGAGAGGCGGACGCAATTCCTTTCAGGCTGGTGTTGCAGAGCCAGCATTTTAACCTGCTTTTCCTATTTTATTATTTTATTTTATTGCATAAACAAAATAATTATGGAGGCAGAAAAGCATAGAGGTCCCAAATGCAGACCTAGAAGTCAGACTGCCTGATCTCTCATGATTAGTCATTGACATGATGCAATGAAGATTAGGGAAGATCATAGAGGTAAGGATCAATAGGGTTCAGTGCTGTAAGTGGCATGCACACATGTACACAATATTGTGAAATGTTAATATTCAAAAGGAAACTAGTGATCTTAACCCTTTATGGCCTGATTGGCTGAGAGATAAGGGTAGTGCTGTTGAAACAGGGGAGACATGATGGGGGACTTAGAAGTCAGGTATTTTCTATTAGGTATCAGCTAACAGTGGGCTGTCCAACTGGAATTTAAACATATTAATCCTGATGGCTGAATTGAGGTGTAATTCATGAAAACCTTGGGCTTCACTAGGTCCCCCAACATAGCAGTTGTCACAAAAAATAGATCAGATTATTTGAAAAAGGTAAGATGAACTATGATTACTTTAAAAACTCAAGAGACTTCTTCCCAAAAAGCATAGCGTGGCAATGCATAACATTCTAAAAAAGCTGATCCAACAGATTGAAAATCTGTTAAAGTGTAGTCCTTCAAAAAAAAAAAAAAAAACAAAAACAAAAACAAAAACCTTAAACCTTTCTTAAAAATTAAAATTTCTTTATTTTCTTTTCTTCTCTTTCTGTTCACCAGGGAAGGTATGGTCAACTTAGAATGGACCAAAGTTTAGCCAAAAAAATAAAGCATTAGACTTTTGATTTCAGTGTAGATTCTCTGGTTTGGGAATACAAGCTTTTACCTCTTACTTTCCTTTTTATTCCCTTCATTTTGGTTACTGAAATTAACAATAACGGTGCCCAAATAGAAGGCAAATGAAAACCAGGCCATTCTTCTCCGAGTAAATTAATCTGATATAAAAACACGTGGGCAGCCGGGCACGGTGGCTCACGCCTGTAACTCCAGCACTTTGGG | benign | 149,023 |
Clinically, how would you classify the variant at chromosome 9, position 110048735, gene PALM2AKAP2 (PALM2 and AKAP2 fusion): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | CAAACTCCCGACCTCAGATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTTCACCCGGCCTTGCTTTACTGTTTCTAATAATGAAACTAATTTTGTTTGTAAATTTTACACTTATTCTAATTTAGGAAAATATGAGAAGGGAGTGATGAAGTACCTGCCATGATATTGTTTATAACATCTCACATCTGATGTAATTCTAAAATTCTTCCTTAGAGAGTCTATGGTCCATATAAATAAATAAGTGATATCCAAGCACACTCATTTTAATGTGAGTTTTTCACATGATATTAAAATGTTAAAAATAGATCAGTATGTAGGGCATCCAAGCATTTAATTCCTTAAATCGGAGACATGAGGAGAAAAAAATGAAAAGGAAGAAAGAAAAGAAGGAAAAGGAAGGAAGGAAGAAAAAGTTGAGTCAAGGCTGAAGCTCTGGCATCTCTAACCACTGGTCAGTAAATTCTATTGAAATTCAATAGTATAAGAGACAAACAGGCAAAAAGGATCGTGAAACCATTTCCAAATACCAAGATAAAGGAGGCTATTGACATTCAGGAACCCTGAGAACAGCTGATGTCCCATTGTAGACTTCATCCTCTTCCTTGGGTGAAAGTGTGAATAGCGCTCAAGGCAGGGAAGAAGTCTTTTCTCTGAAGGTGCTATTTATGGTGCCCTTGGCCTGGATGGGCTTTCTGGGTAGTTCCCAAGGGTATCATTTCTTTGTATTGGAAATCAGGGACCTTTGTGGGTTAGGAAAGTAGAATCAGGCCATGGCTATTGTCTTTCCCTGCTGTGTTTCACATGTAAAATTGACTCCCAGAAGAGCATCCCAGGGCCTTGTCAAGGAGTGGGGAAAATAGCAGACTGCCCTAGGGTGGAAACCTAACTGAGAGTGCAAGGGCGACTTGCAAAGCTGGGGAGAGAGAATTACTGGGAAAATCGTGCCTAGGGCAAAGCTGAATTCAAGAAATCTGACTTTTGTGATCTTCCTCTGCTGAGAATGAATGCGGCCACCTACAGCAGAGTAAGACCACAGCTTGCTTTTGAAAGTGTTGCTCTCTAGGTGGGGTGTTTGTTTGTGTGTGCCTGTCCTCTCTCAGGATTTCTAGACGGTTCATTTTCAAAGGGTCATTAACATTATTTAAATATTCATGGTGGAGGAGGGGATGAGAGACTGAAATTTCAGACATCTCAAGAGTGAGGGATGGCTGGCCACCCGCCTAATACAGCCCCAGTCTGCGGATCAGCTGCCTCCTTCCCCTCCGCTGGCTTTGTTAGCACACGCGCTCTGACACCGGGCCACCGGCTGCCACTACACGGAGGGCAGCAGGAAGGCTCTGGCGAGCCAGTGAGCTGGAAGCATCTCTGTCCACACCTCAGCCTCTGAACCCCATCGGGGGAGTCCTCAAACACGCGGAGACACCATTACTGCCACAAAGACGCACTTCGCAACCAGTTCCGGGAGTCGCTCTGACCCTGAGGACAGTCGTGGTGCTAGGTAAGGGACGAGGGGCTGTTTCCCCGCCTGAGTGGGAACTCAGCGGCTCCTGGCATTTGAGCGCACACAGGCACTCACACACTTCCACATACGCTCATGCGCACATATGTGTACACCAACACACACGTCCACATGCACACACAGCGACACGCCACCCCGCTCCAAAGCCCCGTGCGCTAACAAGTATCCATATACCCAGACACAGCGCTCCCCTGAGTTAGGAAACACTCAGCTTTGCCCGCCCCATCCATCCCTCCGTCTTTCCCTCTCTCCAGTCTCTGCATTCATTCATTTCTTCGTTTGTGCATCGATTCCGCCGAAGCCACTGAGAGGAGAAGGTGTGGGTAGATGGGGAGGGGAGGGGAGGGAGGGGCGGTCCGTGGGCGCTGGGCTACTGGAGGGGAAGCGAGGAGGCGGGGAAGGGGCGGGCCCCAGGAGCAGGCGGGCGGGGCTCCCCGCCCTCCAGCGCGCCCGGAGGCTACCACTCCCTGCAGATGCGCTGGCCCCAGCCCGGGGCTGCCGCTCGCCTTCCCCCGGAGTCTCCTGGACCCCCGGAGTCTCCTGGACCCCCGGAGCGGGAGGCAGCGGCCGCGCGGCGCTGGACTGGAGCAGAACCCCAGGACTGCGCCCCCGGGAGCGGGCGCCCAGAGGTGGGTGTCCAAGCTGGGGAGGGGAGGGGCTGGAGTGTCCTCGAGTGTGAGGAAGGGGTGGCCGAGGAAGGGGTTGCCGAGGAAGGGCTGGAAATCTGGGAGTCCTCGGAAGCACCGCGGGCTTTTAAAGGGCTTTTTGTGGTCCTTGTCGAGCGGAGCGTGTGCTGGGAGAGGGCCCGGGTGGAGGGGCTGTGGCCATGTGGATTTGAATTCCTAGGTTTGTGGGAGGGCCAAGCCTTTGGCTGCTTTGTTCAATGCTTATCATTTATATATGCTTTAAAAACTAAACGCAGGACTCCGCTTCTCCCTGTATACACACAGAGCTGGGCTGTGTGTCCTTTTCAGGAAAAGCAGTGAAATCAAATGTGGTCGTGGCCGCATCTCCTGCCCCGGGAGCACCGGGAGGTGCAGCCGTTCCTTCTAGCTCGCGAGGAAGGCGCGGGTCCTGCCTTTTGGGTGGCAGAGCCGGGGGCATTTTCGCAAGTCCTGAACTTTTCAGAGAGACTGAAGTCAGGGAGGGCCGGGCCCCGGCCCCGGTCCCGGCCCCAGCCAGAGTCTTTCGGGATAGGGTCCAGGGAGCTGAACTCAGGAGATGATGCAGGAGGAGCCAGCAGCCTCTTCTGCCCTGGGAGGGAGAACGCGGTCCGGGTCCGAGCTGAGCCAGAAGTTTGGCCTGAGGCTGGGACCTCAGCAGTTAGAATGTGGTATCTTATCCGAGATAAAGCCGGAGTTTGCGTCTCTGTGGGCCCTTCTTGGGGACACTCTGGGGTATGGGAAGAGCAGACCGTGGGGGAGAGCACTGGGCAAGCCGTACCTGTAATGTCCGTGGAGGCGACGCGCCTGCAAGAACCAGAGCAAGGAGACACTGGTGGCCCCAAGAAATCCCAGAGAAACGGAGTGGATAGGAGGGGAGTAAAACGGAGCCCGGGAGAGCCGGAAGCCCGCAGCAGGGAGCTGTGGCGCTGGTGGCCGGGTGAGGACTGAAGGCAAAGGGCGAGGCGGCGTGCAGCCGGGCTGCCGAGCTCTCCAACGCGGATGCCAGGCGCTCGCCAGCCTGAGGGATCCCTCCTGACCCACAAAGAGGGCGTCTGGGAGGTGACTCGTTTAGAGAGATGGTGGATTCCCTTTCCAGACCCAGGAAAGCCCGTTTCCCGTGTGGGGTAGCATGGGTTTGGCTCTGATAGGCTGCGTGGTCAGATCAGACTTTGACATATCACTACCCTTCCCCGTAGCAGTTTTAAATGCAGCACAGGTGATTTGGGAAGACTTCCTAAATGTATAATATTTCTTTTTGAAAAGAAACTTCACCTACTCATACGTCTATACACCTCTCTCTGTATTGCATCTTGGAATCTGTGAACAAGCCCATGTCTCCCGGGAAGCGCTCTTCTATCCCAACTCCCGTTTCACAGGCTCCTGGAGACTGCATGAATACAAACTCCTCTCACCATTGGGATCCCAGGGAATTTGCTTCCTTGTCTTTTGTTCTGATTAGAGTTCATTTAAGCATCACACTTTTCTTTCTGGAAATGTTCTTAATTTAAATTTAACTAAGCTTCCCTTTCTTCCAGTCTGGCAGCTTCCCCAACATTCATGAATACAATTTCATAATAATATGTCTAGAAATGAGGAGTATCCAGCAAGGAGTTTTACTCTGTTTCTTTAAACATAAAGACTTGGCCTAAAGAGTGTTTTAAGCAATGCTCCGCTGCCGGTTGTCTCCTCCCCAGTTTTGACCCTTGGCCCTTTCTCTGTTTTTCTTTTCTTTTCTTTTTTTTTCTTTTCTTTTCTTTCGAAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTACAACCTCTACCTCATGGGTTCAAGCAATTCTCCTGCATCAGCCTCCCGAATACCTGGGATTACAGGCACCCACCACC | CAAACTCCCGACCTCAGATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTTCACCCGGCCTTGCTTTACTGTTTCTAATAATGAAACTAATTTTGTTTGTAAATTTTACACTTATTCTAATTTAGGAAAATATGAGAAGGGAGTGATGAAGTACCTGCCATGATATTGTTTATAACATCTCACATCTGATGTAATTCTAAAATTCTTCCTTAGAGAGTCTATGGTCCATATAAATAAATAAGTGATATCCAAGCACACTCATTTTAATGTGAGTTTTTCACATGATATTAAAATGTTAAAAATAGATCAGTATGTAGGGCATCCAAGCATTTAATTCCTTAAATCGGAGACATGAGGAGAAAAAAATGAAAAGGAAGAAAGAAAAGAAGGAAAAGGAAGGAAGGAAGAAAAAGTTGAGTCAAGGCTGAAGCTCTGGCATCTCTAACCACTGGTCAGTAAATTCTATTGAAATTCAATAGTATAAGAGACAAACAGGCAAAAAGGATCGTGAAACCATTTCCAAATACCAAGATAAAGGAGGCTATTGACATTCAGGAACCCTGAGAACAGCTGATGTCCCATTGTAGACTTCATCCTCTTCCTTGGGTGAAAGTGTGAATAGCGCTCAAGGCAGGGAAGAAGTCTTTTCTCTGAAGGTGCTATTTATGGTGCCCTTGGCCTGGATGGGCTTTCTGGGTAGTTCCCAAGGGTATCATTTCTTTGTATTGGAAATCAGGGACCTTTGTGGGTTAGGAAAGTAGAATCAGGCCATGGCTATTGTCTTTCCCTGCTGTGTTTCACATGTAAAATTGACTCCCAGAAGAGCATCCCAGGGCCTTGTCAAGGAGTGGGGAAAATAGCAGACTGCCCTAGGGTGGAAACCTAACTGAGAGTGCAAGGGCGACTTGCAAAGCTGGGGAGAGAGAATTACTGGGAAAATCGTGCCTAGGGCAAAGCTGAATTCAAGAAATCTGACTTTTGTGATCTTCCTCTGCTGAGAATGAATGCGGCCACCTACAGCAGAGTAAGACCACAGCTTGCTTTTGAAAGTGTTGCTCTCTAGGTGGGGTGTTTGTTTGTGTGTGCCTGTCCTCTCTCAGGATTTCTAGACGGTTCATTTTCAAAGGGTCATTAACATTATTTAAATATTCATGGTGGAGGAGGGGATGAGAGACTGAAATTTCAGACATCTCAAGAGTGAGGGATGGCTGGCCACCCGCCTAATACAGCCCCAGTCTGCGGATCAGCTGCCTCCTTCCCCTCCGCTGGCTTTGTTAGCACACGCGCTCTGACACCGGGCCACCGGCTGCCACTACACGGAGGGCAGCAGGAAGGCTCTGGCGAGCCAGTGAGCTGGAAGCATCTCTGTCCACACCTCAGCCTCTGAACCCCATCGGGGGAGTCCTCAAACACGCGGAGACACCATTACTGCCACAAAGACGCACTTCGCAACCAGTTCCGGGAGTCGCTCTGACCCTGAGGACAGTCGTGGTGCTAGGTAAGGGACGAGGGGCTGTTTCCCCGCCTGAGTGGGAACTCAGCGGCTCCTGGCATTTGAGCGCACACAGGCACTCACACACTTCCACATACGCTCATGCGCACATATGTGTACACCAACACACACGTCCACATGCACACACAGCGACACGCCACCCCGCTCCAAAGCCCCGTGCGCTAACAAGTATCCATATACCCAGACACAGCGCTCCCCTGAGTTAGGAAACACTCAGCTTTGCCCGCCCCATCCATCCCTCCGTCTTTCCCTCTCTCCAGTCTCTGCATTCATTCATTTCTTCGTTTGTGCATCGATTCCGCCGAAGCCACTGAGAGGAGAAGGTGTGGGTAGATGGGGAGGGGAGGGGAGGGAGGGGCGGTCCGTGGGCGCTGGGCTACTGGAGGGGAAGCGAGGAGGCGGGGAAGGGGCGGGCCCCAGGAGCAGGCGGGCGGGGCTCCCCGCCCTCCAGCGCGCCCGGAGGCTACCACTCCCTGCAGATGCGCTGGCCCCAGCCCGGGGCTGCCGCTCGCCTTCCCCCGGAGTCTCCTGGACCCCCGGAGCGGGAGGCAGCGGCCGCGCGGCGCTGGACTGGAGCAGAACCCCAGGACTGCGCCCCCGGGAGCGGGCGCCCAGAGGTGGGTGTCCAAGCTGGGGAGGGGAGGGGCTGGAGTGTCCTCGAGTGTGAGGAAGGGGTGGCCGAGGAAGGGGTTGCCGAGGAAGGGCTGGAAATCTGGGAGTCCTCGGAAGCACCGCGGGCTTTTAAAGGGCTTTTTGTGGTCCTTGTCGAGCGGAGCGTGTGCTGGGAGAGGGCCCGGGTGGAGGGGCTGTGGCCATGTGGATTTGAATTCCTAGGTTTGTGGGAGGGCCAAGCCTTTGGCTGCTTTGTTCAATGCTTATCATTTATATATGCTTTAAAAACTAAACGCAGGACTCCGCTTCTCCCTGTATACACACAGAGCTGGGCTGTGTGTCCTTTTCAGGAAAAGCAGTGAAATCAAATGTGGTCGTGGCCGCATCTCCTGCCCCGGGAGCACCGGGAGGTGCAGCCGTTCCTTCTAGCTCGCGAGGAAGGCGCGGGTCCTGCCTTTTGGGTGGCAGAGCCGGGGGCATTTTCGCAAGTCCTGAACTTTTCAGAGAGACTGAAGTCAGGGAGGGCCGGGCCCCGGCCCCGGTCCCGGCCCCAGCCAGAGTCTTTCGGGATAGGGTCCAGGGAGCTGAACTCAGGAGATGATGCAGGAGGAGCCAGCAGCCTCTTCTGCCCTGGGAGGGAGAACGCGGTCCGGGTCCGAGCTGAGCCAGAAGTTTGGCCTGAGGCTGGGACCTCAGCAGTTAGAATGTGGTATCTTATCCGAGATAAAGCCGGAGTTTGCGTCTCTGTGGGCCCTTCTTGGGGACACTCTGGGGTATGGGAAGAGCAGACCGTGGGGGAGAGCACTGGGCAAGCCGTACCTGTAATGTCCGTGGAGGCGACGCGCCTGCAAGAACCAGAGCAAGGAGACACTGGTGGCCCCAAGAAATCCCAGAGAAACGGAGTGGATAGGAGGGGAGTAAAACGGAGCCCGGGAGAGCCGGAAGCCCGCAGCAGGGAGCTGTGGCGCTGGTGGCCGGGTGAGGACTGAAGGCAAAGGGCGAGGCGGCGTGCAGCCGGGCTGCCGAGCTCTCCAACGCGGATGCCAGGCGCTCGCCAGCCTGAGGGATCCCTCCTGACCCACAAAGAGGGCGTCTGGGAGGTGACTCGTTTAGAGAGATGGTGGATTCCCTTTCCAGACCCAGGAAAGCCCGTTTCCCGTGTGGGGTAGCATGGGTTTGGCTCTGATAGGCTGCGTGGTCAGATCAGACTTTGACATATCACTACCCTTCCCCGTAGCAGTTTTAAATGCAGCACAGGTGATTTGGGAAGACTTCCTAAATGTATAATATTTCTTTTTGAAAAGAAACTTCACCTACTCATACGTCTATACACCTCTCTCTGTATTGCATCTTGGAATCTGTGAACAAGCCCATGTCTCCCGGGAAGCGCTCTTCTATCCCAACTCCCGTTTCACAGGCTCCTGGAGACTGCATGAATACAAACTCCTCTCACCATTGGGATCCCAGGGAATTTGCTTCCTTGTCTTTTGTTCTGATTAGAGTTCATTTAAGCATCACACTTTTCTTTCTGGAAATGTTCTTAATTTAAATTTAACTAAGCTTCCCTTTCTTCCAGTCTGGCAGCTTCCCCAACATTCATGAATACAATTTCATAATAATATGTCTAGAAATGAGGAGTATCCAGCAAGGAGTTTTACTCTGTTTCTTTAAACATAAAGACTTGGCCTAAAGAGTGTTTTAAGCAATGCTCCGCTGCCGGTTGTCTCCTCCCCAGTTTTGACCCTTGGCCCTTTCTCTGTTTTTCTTTTCTTTTCTTTTTTTTTCTTTTCTTTTCTTTCGAAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTACAACCTCTACCTCATGGGTTCAAGCAATTCTCCTGCATCAGCCTCCCGAATACCTGGGATTACAGGCACCCACCACCNNNNNNNNNNNNNNNNNN | benign | 149,031 |
Does the variant impacting MUSK (muscle associated receptor tyrosine kinase) on chromosome 9, position 110747795, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Fetal_akinesia_deformation_sequence_1'] | CTGGGGAAAATGCCACAATACTTGATCTGACCTGGAAAGATTCCCAGTGAAGGTAAATTGATACTCACATAAGCCAGTTTTTATCATAAGAATTGAGACTAGTACTGAAGGTAAAGAATAAAAAGCTAGTTGGACAAACGTTCACTGCATGATTGCTACACAGTGCTTGGTGCCAGGGATAGCCAGCCACCTGGCAGCTAGGAAGAAAGCTGGCCTTACCTCAGAGCTTTCTTCTTCCTGGCTAGTCAAACTGTGAAAATCCTTTCTCATGCAACACAATAAAATAATTGGCTCCAAAATGTCTCATTCTCAGCCTCATTCCCTAATACTGGACACAGGAATCTCTTTCAGCCAAGCAGCCAAGCTCAGGCCAACATGGGACGTACCTCCACTCCTTTAAGATAAAGTCAAAGCATAACACCAGCTGATTCCTTAACTGTCATTTCACTCCAGTTTCCCTCAATTGGCATCATGTTTCCCTGATATAAGCAGCGTTAATTAAAGATTAGTTATTGAAAAGGTGGTATTGTGCTCAAGAAAACAGTGAAAAAAGAACCACCATTTAAAAAAAATGCCACCACCTTAACAATGACATTTGTCAGATATGTATTTTGTTCATGGTTGGTTGATTTGTTAAGGTAGTTGTTACTCTTGTTTTCTAATGACTGCTCATTTGTTCTCTCTTCTAGGACTAGGGAAGGCACTGTAACATAATGATTAAAAGCATAGGCTTTGGTGTCAGACACGCTAGGATGCAAATTCTAACTATGCAACCTTGTAAAATGTGCTGGGCAGCTATCTTTCCTACAGAGTTGGAGTAATGTTGACTAATATATATGCATTTGTATAAATTAAGCTGTTAATTGTGTGTCAATATTGCATTGATATCTTGGCTCTTTAAGGACATTTGATTTTCTGGTTTAAGTAGTACCTCCTGCATGAACTTCCTGACGTGTTGAACTATTTCAACACCTGGATGAAGTCCAGGAGAAGAGAGGTCAGGCAGTTTAAAAACTGCTTCTGTTTCCTACTAAGGATGTTTTCGGTGACCTTGAGGTATTATGTATGTATTATGTATGTCATGCCTCAGAGACAGACTTGGCTTCACAACCATTTTTCCTGACAACCATCCACCTATCTGACATGCATTTATGGGGAACTGAACAGGAGTTATGAAAATAAGTCCTTAAGTCTGCAACCTCTCATACTTAACTGTCATCTGTAGGACACTGAAGACATATATCAGAGGATCCACACCGTATATAATTCATGCCTTGTATTGGTTATCTATGGTTGTATCACAAATCAGCCCAAAGCTTAGTGACTTAAACCAATAACTATTAGTGCTCACAAGTCTGTGGTTCAACTGGGTGGTTTTGCTGATTTGGTTTTGCTGCTGGGCAGGACTGCCTGATCTTGGCTGGTCAAGTTCCTGTGATCGGCAGATTGAAAAGGTGGTAGTTGGTTCAGAATAGCCTTATGCGTACCTTGGATGGTTGTTGTTGGTTCCCACCTGGGGCAGAGGGGATAAACGGGCCAGGTGTGTTTCATCTTCTACCATGCTGGCTCTTGCTTGTTTATAGGCAGTCCCAGGTTCCATAAACAAGAAAGCAAGCCACAATGTGCAAGAACGTTAGTTTCTGCTCATTCATTCCAAAACACATCACAAGGCTAATCTAGATTCAAATTATGGAGGAAAATGCTACTTCTTGAGGGAAGAGCTACAAAGTCACATTGCAAGGGCATGGACACAGGGAGGGAAAATCTTTTGGCTATGTTTGCAGTGTACCACATGCACTTGATTATAATCTTAATGCTTTTCCCTTCAAATCTACTGACATAGTATAGTGGGAAATCCTTGACTGAGTTCTTTTATTTTCCTTTACTCTGTCAGGTTTCTTCTGGGTCCATTCAAGAGAGTGTGAAAGACCGAGTGATTGACTCAAGACTGCAGCTGTTTATCACCAAGCCAGGACTCTACACATGCATAGCTACCAATAAGCATGGGGAGAAGTTCAGTACTGCCAAGGCTGCAGCCACCATCAGCATAGCAGGTAGGATGCCCCTTCACATTTGCGTTGTTCCAGGAGAGGGGAGAGTTGATACTATTCTACAATATCGAGCATTGGAGAAAATCTCCCTTTTCTTTTATCTCTTATTTCAGTTGCATTTGGGCTATTTCCTCCCCCATGGGGATACTCCGGAGGTGACCTAGATATGGATTTTGGCAGATTTGCTGCCTGGAAAACTAAATCCTCAATACCTACCCAAGTGGTAGGTAACAGCTTCCAGGAACTCACTTCTTCCTTCCTTCTTGTTTTTCTTATCTTTTTTCCTTTTCTCCATTTCTCTTTCCTCCCTCCCTCCTTCCCTCCCTCGCTCCCTTTTTTCCTTCCTTCTTTCCTTCCTTCCCTTATTCCCTCCTTCATTCCTCCCTCCTTCCCTCCCTCCCTCTTCCCTTCCCTCCCTCCCTCTTTTCCTTTTCTTTAATTTCCTTTCCTTTTCCCCACTCCTCGTTCTCTCTTTTGGTTGATCAAACTTTCCAAGTCTCTCATGGAGAAAGTTGGCAGACATTCAACATGGTCATGCCAATTTCTGCATGGCTATTTCTTGCGGGCATTTTTACCTGTGAGCATGATCCCTGTGGTCTTTCCCTTCCCTGCTTCAGCAAGCCACAGCAGGTCTTACAGGTGTTTTCAAGAAAAAGGCTGACACACGGATTTCTAGGATGTTTGTGTTGAGTTCTAAAGGTTTATTTTTAAAATGTAAATGTCCCAAAGGCTTCTGAGAACATTTATAGAATTCCTAGAGATGGAAATAATCCCTGTATCAGGAAATGCCAGGCATATTAGATTCATAGCGTGCCTAGGGCTCAAGGGTCAGGAGAGAGGTGCTTGGCCTGACATGTAAGGCAAGCACGGATAGAGCTTGTGCCTAGGGCCAACTCCCCACAGCCTGCTGTTTCTTATTACAGTGCCACCTCTTTGATCTTCCCTGATGGGGAACTTTCCAGTAATGTCTGTGATTTGTAATATGAGGTGAATAAAAACCACAGATAAATGATAAGGAGCACTGGACAAGGCTGGCCCTCTGGGACTGCCTATGAAGGAAAAGGAAGACTTCAAAATTAAGGTTCCCTCTCCTTTCTCCCCCCAGTGATATCTCTGCCTACCATGTCTTCAGACACCATATCAGTTATTCTAGCATTTCCACAGGTGGGAAATTATTTCTCCCAGAAAATGAAAAGTCTTCTAAAAGTAAATTCAACTCAATTTAACAAATAATAATAATATCACATAATAAGTAATAGTATAATCATATAATATAAATAGTAATAAGAATTACTATTTACATAGCACTTTGCTGTTTATAAAGCACTTTTACATGCATTTATCAAATACTCTAGATGACGCCCATTGTGTTGGGTAGAGTAAGAGATGAAAAGTTAATTTAAAAATGGGTCCTGCCTTCCAGGGACTCTGCATCTAGAAGGAAGTCAGTCAGTCACGTATATTATGGCACTGGCTGTATTCTATTGCAGAAGCATACACAAAATACAACAGCAGAACAAGAGAGGCAGGATGTCAGGGAATCCTTGGAAAAGAGGTATCATTGGAGCAGAAGATGTGGATATGAGATGACTAGGTTGAAGTCAAACCTTTCAAACCTGTTCAAAAAACAGCAAATCAGTGGTCAAGGCTAGACCACGAGAGAGACAGCAGGGAGGTGGAAAGTGGAAACAAAAGTTGAAACATGGGCTCTAGCCAGGTTATGAAGAGCCTGCATAGGTTTAGTATATTATTTCATTGATGAGAAGTCATTTAATGATTTAGAAGAAATAAGTGCAATAGATATATCCTCTAGCAAATTAACAGATGCTGAGGTGTTAGGAGGTTGAGAAGTGCGGCAAGCTGTCAGGAGGCTCTTCCAGGTGTCTCAAAAAGTCATGAAGGTCTGAACAGCAGCAGCAGCATTGGTTCAAAGGGAAGAGGAGAGATGCACAGGACAAATCAGGATAGAAATAAGGTTTGCAAATGCTTGAAAATGGCAGTGGGCTAGAAGGATGAGTTCAGATGTGTCTGATTTTGAAAGGTGC | CTGGGGAAAATGCCACAATACTTGATCTGACCTGGAAAGATTCCCAGTGAAGGTAAATTGATACTCACATAAGCCAGTTTTTATCATAAGAATTGAGACTAGTACTGAAGGTAAAGAATAAAAAGCTAGTTGGACAAACGTTCACTGCATGATTGCTACACAGTGCTTGGTGCCAGGGATAGCCAGCCACCTGGCAGCTAGGAAGAAAGCTGGCCTTACCTCAGAGCTTTCTTCTTCCTGGCTAGTCAAACTGTGAAAATCCTTTCTCATGCAACACAATAAAATAATTGGCTCCAAAATGTCTCATTCTCAGCCTCATTCCCTAATACTGGACACAGGAATCTCTTTCAGCCAAGCAGCCAAGCTCAGGCCAACATGGGACGTACCTCCACTCCTTTAAGATAAAGTCAAAGCATAACACCAGCTGATTCCTTAACTGTCATTTCACTCCAGTTTCCCTCAATTGGCATCATGTTTCCCTGATATAAGCAGCGTTAATTAAAGATTAGTTATTGAAAAGGTGGTATTGTGCTCAAGAAAACAGTGAAAAAAGAACCACCATTTAAAAAAAATGCCACCACCTTAACAATGACATTTGTCAGATATGTATTTTGTTCATGGTTGGTTGATTTGTTAAGGTAGTTGTTACTCTTGTTTTCTAATGACTGCTCATTTGTTCTCTCTTCTAGGACTAGGGAAGGCACTGTAACATAATGATTAAAAGCATAGGCTTTGGTGTCAGACACGCTAGGATGCAAATTCTAACTATGCAACCTTGTAAAATGTGCTGGGCAGCTATCTTTCCTACAGAGTTGGAGTAATGTTGACTAATATATATGCATTTGTATAAATTAAGCTGTTAATTGTGTGTCAATATTGCATTGATATCTTGGCTCTTTAAGGACATTTGATTTTCTGGTTTAAGTAGTACCTCCTGCATGAACTTCCTGACGTGTTGAACTATTTCAACACCTGGATGAAGTCCAGGAGAAGAGAGGTCAGGCAGTTTAAAAACTGCTTCTGTTTCCTACTAAGGATGTTTTCGGTGACCTTGAGGTATTATGTATGTATTATGTATGTCATGCCTCAGAGACAGACTTGGCTTCACAACCATTTTTCCTGACAACCATCCACCTATCTGACATGCATTTATGGGGAACTGAACAGGAGTTATGAAAATAAGTCCTTAAGTCTGCAACCTCTCATACTTAACTGTCATCTGTAGGACACTGAAGACATATATCAGAGGATCCACACCGTATATAATTCATGCCTTGTATTGGTTATCTATGGTTGTATCACAAATCAGCCCAAAGCTTAGTGACTTAAACCAATAACTATTAGTGCTCACAAGTCTGTGGTTCAACTGGGTGGTTTTGCTGATTTGGTTTTGCTGCTGGGCAGGACTGCCTGATCTTGGCTGGTCAAGTTCCTGTGATCGGCAGATTGAAAAGGTGGTAGTTGGTTCAGAATAGCCTTATGCGTACCTTGGATGGTTGTTGTTGGTTCCCACCTGGGGCAGAGGGGATAAACGGGCCAGGTGTGTTTCATCTTCTACCATGCTGGCTCTTGCTTGTTTATAGGCAGTCCCAGGTTCCATAAACAAGAAAGCAAGCCACAATGTGCAAGAACGTTAGTTTCTGCTCATTCATTCCAAAACACATCACAAGGCTAATCTAGATTCAAATTATGGAGGAAAATGCTACTTCTTGAGGGAAGAGCTACAAAGTCACATTGCAAGGGCATGGACACAGGGAGGGAAAATCTTTTGGCTATGTTTGCAGTGTACCACATGCACTTGATTATAATCTTAATGCTTTTCCCTTCAAATCTACTGACATAGTATAGTGGGAAATCCTTGACTGAGTTCTTTTATTTTCCTTTACTCTGTCAGGTTTCTTCTGGGTCCATTCAAGAGAGTGTGAAAGACCGAGTGATTGACTCAAGACTGCAGCTGTTTATCACCAAGCCAGGACTCTACACATGCATAGCTACCAATAAGCATGGGGAGAAGTTCAGTACTGCCAAGGCTGCAGCCACCATCAGCATAAGCAGGTAGGATGCCCCTTCACATTTGCGTTGTTCCAGGAGAGGGGAGAGTTGATACTATTCTACAATATCGAGCATTGGAGAAAATCTCCCTTTTCTTTTATCTCTTATTTCAGTTGCATTTGGGCTATTTCCTCCCCCATGGGGATACTCCGGAGGTGACCTAGATATGGATTTTGGCAGATTTGCTGCCTGGAAAACTAAATCCTCAATACCTACCCAAGTGGTAGGTAACAGCTTCCAGGAACTCACTTCTTCCTTCCTTCTTGTTTTTCTTATCTTTTTTCCTTTTCTCCATTTCTCTTTCCTCCCTCCCTCCTTCCCTCCCTCGCTCCCTTTTTTCCTTCCTTCTTTCCTTCCTTCCCTTATTCCCTCCTTCATTCCTCCCTCCTTCCCTCCCTCCCTCTTCCCTTCCCTCCCTCCCTCTTTTCCTTTTCTTTAATTTCCTTTCCTTTTCCCCACTCCTCGTTCTCTCTTTTGGTTGATCAAACTTTCCAAGTCTCTCATGGAGAAAGTTGGCAGACATTCAACATGGTCATGCCAATTTCTGCATGGCTATTTCTTGCGGGCATTTTTACCTGTGAGCATGATCCCTGTGGTCTTTCCCTTCCCTGCTTCAGCAAGCCACAGCAGGTCTTACAGGTGTTTTCAAGAAAAAGGCTGACACACGGATTTCTAGGATGTTTGTGTTGAGTTCTAAAGGTTTATTTTTAAAATGTAAATGTCCCAAAGGCTTCTGAGAACATTTATAGAATTCCTAGAGATGGAAATAATCCCTGTATCAGGAAATGCCAGGCATATTAGATTCATAGCGTGCCTAGGGCTCAAGGGTCAGGAGAGAGGTGCTTGGCCTGACATGTAAGGCAAGCACGGATAGAGCTTGTGCCTAGGGCCAACTCCCCACAGCCTGCTGTTTCTTATTACAGTGCCACCTCTTTGATCTTCCCTGATGGGGAACTTTCCAGTAATGTCTGTGATTTGTAATATGAGGTGAATAAAAACCACAGATAAATGATAAGGAGCACTGGACAAGGCTGGCCCTCTGGGACTGCCTATGAAGGAAAAGGAAGACTTCAAAATTAAGGTTCCCTCTCCTTTCTCCCCCCAGTGATATCTCTGCCTACCATGTCTTCAGACACCATATCAGTTATTCTAGCATTTCCACAGGTGGGAAATTATTTCTCCCAGAAAATGAAAAGTCTTCTAAAAGTAAATTCAACTCAATTTAACAAATAATAATAATATCACATAATAAGTAATAGTATAATCATATAATATAAATAGTAATAAGAATTACTATTTACATAGCACTTTGCTGTTTATAAAGCACTTTTACATGCATTTATCAAATACTCTAGATGACGCCCATTGTGTTGGGTAGAGTAAGAGATGAAAAGTTAATTTAAAAATGGGTCCTGCCTTCCAGGGACTCTGCATCTAGAAGGAAGTCAGTCAGTCACGTATATTATGGCACTGGCTGTATTCTATTGCAGAAGCATACACAAAATACAACAGCAGAACAAGAGAGGCAGGATGTCAGGGAATCCTTGGAAAAGAGGTATCATTGGAGCAGAAGATGTGGATATGAGATGACTAGGTTGAAGTCAAACCTTTCAAACCTGTTCAAAAAACAGCAAATCAGTGGTCAAGGCTAGACCACGAGAGAGACAGCAGGGAGGTGGAAAGTGGAAACAAAAGTTGAAACATGGGCTCTAGCCAGGTTATGAAGAGCCTGCATAGGTTTAGTATATTATTTCATTGATGAGAAGTCATTTAATGATTTAGAAGAAATAAGTGCAATAGATATATCCTCTAGCAAATTAACAGATGCTGAGGTGTTAGGAGGTTGAGAAGTGCGGCAAGCTGTCAGGAGGCTCTTCCAGGTGTCTCAAAAAGTCATGAAGGTCTGAACAGCAGCAGCAGCATTGGTTCAAAGGGAAGAGGAGAGATGCACAGGACAAATCAGGATAGAAATAAGGTTTGCAAATGCTTGAAAATGGCAGTGGGCTAGAAGGATGAGTTCAGATGTGTCTGATTTTGAAAGGTG | pathogenic | 149,070 |
Gene MUSK (muscle associated receptor tyrosine kinase) variant at chromosome 9, position 110762231—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | CATTCGACCCAGCAATTCCGCTACTGAGTATATATTCAAAGGAATATAAATCAGTCTACCATAAAGACACATGCATGCAAATGTTCGTTGCAGCACTATTCATAATAGCCAAGATGTGGAATCAACCTAAATGCCTATCAATGACAGATTGGACAAAGGAAATGTGGCACATATACACCATGGAATACTACGTGGTCATAAAAAATAATAAGATCATGTCCTTTGCAGGAACATGTATGGAACTGGAGGCCACTATCCTTAGCAAACTAATGCAGGAACAGGAAACTAAATACTGCATGTTCCCACTTATAAGTGGGAGCTAAATAATGAGAACACATGGACAGAAAGAGGGGAACAACAGACACTGGGATCTACCTGAGGGTAGAGGGTTGGAGAAAGGAGAGGATTAGGAAAAAAAAAAATAGAACAACTTTCGGGCACTATGGTTAGTACGCGGGTGATGAAATAATCTATACACCAAACTCGCAAGTCACAAGTTTACCTACACAACAAACCTGAATTATGTACCCCCGAACCTAAAATCAAAGTTAAAATATTCTTCAGGATCACTGAATAAAAAGCTCATAAAGATTCAAAAAAGTCATACACTCAAAGTTATAAAAACCTTCTAGTTACCAACCCTCACCAATCTCAAAGAGAATGATTAGAAATACAAGCTCATTGTATTTTAAGAAGATTGACCTCTCAGAGAAATTCATGTTACAGCCCTTAAAAATCCCCCCCAAAATAACACCCAAATGGATCTAAAACCTTCAAAACGGAGTTAGACCTCAACATTAGGAGAAATTTTAATATGGCAAATTGGTTTTAGACAAAGCATATGTTTTACTGTTTATTTTCGTAATGAGGGTTGAGAGGACAGGACGAAGTAACCATAAAGCACTTGGTAAAGAGTGTGAAGTTTTTAATTTACAAGAAAGAAAATGGAATAATTCAGAAATGCTGGTTATATCACACCCTTGCCGGGATTCTCATGCCTTGGCAGAGTCTGAGTTGGGGCTGTTTGTCCTGGGAATCACATACCACCAGAGGAGAGGCGTATTCTCCTCAGAGCCCTGAGTTTTTACATCCGTGAGCATGGGCAGCTACATAATTTGCAGGGCTAGGTGTTCCAAAAACGGTAAGGATTTCAAGGTAGGGAGAGCAGAACATTAAATTAAGCCCGAGGCCCTTCTGAGTGCAGATGCCATGCAGCTACCCAGGGCACACAGCCTTGAGGCAGCCAGGTCTATGAGAACAACCATTGCCTACTTTCTCTTCTACCCTCTCTCCTCTGCATGTTCTTTTCTTTTCTCCTTCTCCTTCTTTTTTCTTTTTTTCCAAGTCTGCTTTATGCATCTTCTCTGTTAACCTCCACATCTTGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCACTGGCGCGATCTTGGTTCACTGCAGGCTCCGCCCCCCGGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCACGTAGCGGGATTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCACATCTTGATTTCTTAATGTAAAGTCCCTGGGTAGCTAATGGAGGGAAATTCTGAGCTTAGATATTGCCTTGGTGGATGTTACCCATGATTGACTCAGTTTGAAAAGAACCTGCTTCCTAAAGATACTCAATATTTTCTTCATTTCCTCCGAATCTGCCCATTAATGCAGCATCTGGCCTCCTAGCAGAAGCGGAGAACTTTTCAGAAACTTAGAGATCAGTAGTATCAAAACAATCTCAGCCAAAGCATAAGATGAAAATGTACTAACGTTCTTTCTTTTCTCCTTTAATTTGACTTCCTGTGGGAACTTCCTTTCCTGTTAATAGAATGGAGGTAAGAAACTGTTATTGTAACAATTGTTTCCAATGTTTTGTTTTGTAGGGATTTCGTTTGTTTGTTTTTGTCTGTGAGAGGGTCTTGTGTTGCCCAGGCTGGAGTGCGGTGGAGTATGTTTTGTTTTTGTTATTTGACATGCCATTTATTGAGTGTTTACTATTTGCTGAGCACTGTAACATTTTAGAAACTTTCTAATTTCTAATCCTTTTAGTAAGTATGATGAAGTGAAAGACAGGTAACCTCTACTGAATACTTACTATGGATCGGGCACTGTGCTGAGCTTCACATGCATTATTTAAATCTATCTTCAAGACATCCCCATGGAATGGGTATTATTGTTATCTCTATTTTGCAGAAAAAAAAAATAAAAAAACCTAAGAAAGTTTCTTTGAACTGGAGAGTTCAAGTGGCTTACACAGCCAGTAAATGATAAAGTTAGAAATGGAACCCAGAACTGCCAAACTCCCCCTTATAGCTCTAACCTATATATAAGAAGGTATCCCTTGCAATATAACCTTTTGCAACTTACAGTGTTTTATTTGCAGTACTTTTAAAACTGACCTTCATAAAACTCTATGGAGTGTAATTAATTTTAAGACAGCATTCTTAGCACATAGCCTACGTTTAAAAACAGGCAGCAGGATACAAAATTTTGGTTAGATAGCAAAAATAAGTTCAAGAGATTTAGAGTACAATACAGTGACTATCATTAATAACAATGTATTGTATTCTTGACAACCACTGAGAATAGATTTTAAGTGTTCTCATCATCAGAAAATGGTAAGTATGTGAGGTAATGCATTTGTTAATTAGCTCAATTTAGTCATCCCACAATGCGTACATGTTTTAAAACATCATGTGGTACACAATAAAAAAAACAGTTTTTTTTAACTAAAAACACCTTTTAAAGTTTTACTGTTAAAAAGGTCTTAAGAAATACCATTTGGATGTATATATTGCTCTGAAAAGCAGTGAAAATCATGATACACATTATATGAAAAATTAAACTAGTTTTAAGTATATAGGATAGTGATTTGTCATAATTGACTGCATTCCAGTTTGTTAATGTGGTATCAAAAATTCTCAGTTCAAAAAAAAGAAAAAATTCTGAGTCCATTTTTTAATCTAAATATTGCTTTAATAATTTTTATTAACAATTTTGGAGCTACTGCCTTAGCAGAGTAAAGTTTATCTAAACTAAAATTAATAAAAGTGCCATTTAATAACCCTCCTTCTGAAAAAAACAGGCAGCAGGCCAAATTTGTCCTGTGGGTTGTACTTGCTGACCCCTGCCTTGGAGAATAAATTATATACAAAGACACTAGACGCGAAAGAATAGAAACAGTTCCCGTTTGCTTTGAAGGTTGGAAGTAGCACAGAATCTGTCATTACCTTTGTTGGGAATGTTCAAGGAGAGATAAGGCAGTTGCTAAAAAAGGGAAGATTTGTCTGAAGCAGAGGAGAGGTACAGCTGTCAAGTGTGCCTGTGCAGGGAGGGAGGGAAGTAAGGTGTGGAGTTTCCACTAGAGTCTTGGGGTTGTCATAACACAAACATGCCATGGCTGGTCATCTGGAATGCCCTTGGGACAAAATATTATGTGTTCAAAGGGAGTAGACATCTCCCTCAGAGAAACTTGAAGATAACATTTTAAAATGTTCTATTGAATGTGATTCATGCGTTTCAAAGTAGAGAGAAATAGGAGTAAGAGGTGCAGTGAGAATTCTTTACCTACTCCCTTTGACCACATAGGGTTGTCTGTTATAAAAGAAGTTGAAAAGGAGATCCGAGATCAAATATCCATTATTGCCTCTACAAGAAAGGGAACTTTTCTGAAAGAGAAGTCAACTGAGTTTATATTGTAAGGAGGCAAGAGAGGGACTGTTTCCATGTGCAATATTAACTAGCATTATTAGAAGCTAGTCTGGCTGATGATTCCGAAATAACCAGCATTCTGTGAATGGATCCCTGTGACCTCTGTCCCACGGTTCTAATGAGCAACAGGACCAGCTGCTTCTAGTGTTGCCCCATCAGCAGTACCACGAACTGCAGGCAGAGAAACACAACTT | CATTCGACCCAGCAATTCCGCTACTGAGTATATATTCAAAGGAATATAAATCAGTCTACCATAAAGACACATGCATGCAAATGTTCGTTGCAGCACTATTCATAATAGCCAAGATGTGGAATCAACCTAAATGCCTATCAATGACAGATTGGACAAAGGAAATGTGGCACATATACACCATGGAATACTACGTGGTCATAAAAAATAATAAGATCATGTCCTTTGCAGGAACATGTATGGAACTGGAGGCCACTATCCTTAGCAAACTAATGCAGGAACAGGAAACTAAATACTGCATGTTCCCACTTATAAGTGGGAGCTAAATAATGAGAACACATGGACAGAAAGAGGGGAACAACAGACACTGGGATCTACCTGAGGGTAGAGGGTTGGAGAAAGGAGAGGATTAGGAAAAAAAAAAATAGAACAACTTTCGGGCACTATGGTTAGTACGCGGGTGATGAAATAATCTATACACCAAACTCGCAAGTCACAAGTTTACCTACACAACAAACCTGAATTATGTACCCCCGAACCTAAAATCAAAGTTAAAATATTCTTCAGGATCACTGAATAAAAAGCTCATAAAGATTCAAAAAAGTCATACACTCAAAGTTATAAAAACCTTCTAGTTACCAACCCTCACCAATCTCAAAGAGAATGATTAGAAATACAAGCTCATTGTATTTTAAGAAGATTGACCTCTCAGAGAAATTCATGTTACAGCCCTTAAAAATCCCCCCCAAAATAACACCCAAATGGATCTAAAACCTTCAAAACGGAGTTAGACCTCAACATTAGGAGAAATTTTAATATGGCAAATTGGTTTTAGACAAAGCATATGTTTTACTGTTTATTTTCGTAATGAGGGTTGAGAGGACAGGACGAAGTAACCATAAAGCACTTGGTAAAGAGTGTGAAGTTTTTAATTTACAAGAAAGAAAATGGAATAATTCAGAAATGCTGGTTATATCACACCCTTGCCGGGATTCTCATGCCTTGGCAGAGTCTGAGTTGGGGCTGTTTGTCCTGGGAATCACATACCACCAGAGGAGAGGCGTATTCTCCTCAGAGCCCTGAGTTTTTACATCCGTGAGCATGGGCAGCTACATAATTTGCAGGGCTAGGTGTTCCAAAAACGGTAAGGATTTCAAGGTAGGGAGAGCAGAACATTAAATTAAGCCCGAGGCCCTTCTGAGTGCAGATGCCATGCAGCTACCCAGGGCACACAGCCTTGAGGCAGCCAGGTCTATGAGAACAACCATTGCCTACTTTCTCTTCTACCCTCTCTCCTCTGCATGTTCTTTTCTTTTCTCCTTCTCCTTCTTTTTTCTTTTTTTCCAAGTCTGCTTTATGCATCTTCTCTGTTAACCTCCACATCTTGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCACTGGCGCGATCTTGGTTCACTGCAGGCTCCGCCCCCCGGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCACGTAGCGGGATTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCACATCTTGATTTCTTAATGTAAAGTCCCTGGGTAGCTAATGGAGGGAAATTCTGAGCTTAGATATTGCCTTGGTGGATGTTACCCATGATTGACTCAGTTTGAAAAGAACCTGCTTCCTAAAGATACTCAATATTTTCTTCATTTCCTCCGAATCTGCCCATTAATGCAGCATCTGGCCTCCTAGCAGAAGCGGAGAACTTTTCAGAAACTTAGAGATCAGTAGTATCAAAACAATCTCAGCCAAAGCATAAGATGAAAATGTACTAACGTTCTTTCTTTTCTCCTTTAATTTGACTTCCTGTGGGAACTTCCTTTCCTGTTAATAGAATGGAGGTAAGAAACTGTTATTGTAACAATGTTTCCAATGTTTTGTTTTGTAGGGATTTCGTTTGTTTGTTTTTGTCTGTGAGAGGGTCTTGTGTTGCCCAGGCTGGAGTGCGGTGGAGTATGTTTTGTTTTTGTTATTTGACATGCCATTTATTGAGTGTTTACTATTTGCTGAGCACTGTAACATTTTAGAAACTTTCTAATTTCTAATCCTTTTAGTAAGTATGATGAAGTGAAAGACAGGTAACCTCTACTGAATACTTACTATGGATCGGGCACTGTGCTGAGCTTCACATGCATTATTTAAATCTATCTTCAAGACATCCCCATGGAATGGGTATTATTGTTATCTCTATTTTGCAGAAAAAAAAAATAAAAAAACCTAAGAAAGTTTCTTTGAACTGGAGAGTTCAAGTGGCTTACACAGCCAGTAAATGATAAAGTTAGAAATGGAACCCAGAACTGCCAAACTCCCCCTTATAGCTCTAACCTATATATAAGAAGGTATCCCTTGCAATATAACCTTTTGCAACTTACAGTGTTTTATTTGCAGTACTTTTAAAACTGACCTTCATAAAACTCTATGGAGTGTAATTAATTTTAAGACAGCATTCTTAGCACATAGCCTACGTTTAAAAACAGGCAGCAGGATACAAAATTTTGGTTAGATAGCAAAAATAAGTTCAAGAGATTTAGAGTACAATACAGTGACTATCATTAATAACAATGTATTGTATTCTTGACAACCACTGAGAATAGATTTTAAGTGTTCTCATCATCAGAAAATGGTAAGTATGTGAGGTAATGCATTTGTTAATTAGCTCAATTTAGTCATCCCACAATGCGTACATGTTTTAAAACATCATGTGGTACACAATAAAAAAAACAGTTTTTTTTAACTAAAAACACCTTTTAAAGTTTTACTGTTAAAAAGGTCTTAAGAAATACCATTTGGATGTATATATTGCTCTGAAAAGCAGTGAAAATCATGATACACATTATATGAAAAATTAAACTAGTTTTAAGTATATAGGATAGTGATTTGTCATAATTGACTGCATTCCAGTTTGTTAATGTGGTATCAAAAATTCTCAGTTCAAAAAAAAGAAAAAATTCTGAGTCCATTTTTTAATCTAAATATTGCTTTAATAATTTTTATTAACAATTTTGGAGCTACTGCCTTAGCAGAGTAAAGTTTATCTAAACTAAAATTAATAAAAGTGCCATTTAATAACCCTCCTTCTGAAAAAAACAGGCAGCAGGCCAAATTTGTCCTGTGGGTTGTACTTGCTGACCCCTGCCTTGGAGAATAAATTATATACAAAGACACTAGACGCGAAAGAATAGAAACAGTTCCCGTTTGCTTTGAAGGTTGGAAGTAGCACAGAATCTGTCATTACCTTTGTTGGGAATGTTCAAGGAGAGATAAGGCAGTTGCTAAAAAAGGGAAGATTTGTCTGAAGCAGAGGAGAGGTACAGCTGTCAAGTGTGCCTGTGCAGGGAGGGAGGGAAGTAAGGTGTGGAGTTTCCACTAGAGTCTTGGGGTTGTCATAACACAAACATGCCATGGCTGGTCATCTGGAATGCCCTTGGGACAAAATATTATGTGTTCAAAGGGAGTAGACATCTCCCTCAGAGAAACTTGAAGATAACATTTTAAAATGTTCTATTGAATGTGATTCATGCGTTTCAAAGTAGAGAGAAATAGGAGTAAGAGGTGCAGTGAGAATTCTTTACCTACTCCCTTTGACCACATAGGGTTGTCTGTTATAAAAGAAGTTGAAAAGGAGATCCGAGATCAAATATCCATTATTGCCTCTACAAGAAAGGGAACTTTTCTGAAAGAGAAGTCAACTGAGTTTATATTGTAAGGAGGCAAGAGAGGGACTGTTTCCATGTGCAATATTAACTAGCATTATTAGAAGCTAGTCTGGCTGATGATTCCGAAATAACCAGCATTCTGTGAATGGATCCCTGTGACCTCTGTCCCACGGTTCTAATGAGCAACAGGACCAGCTGCTTCTAGTGTTGCCCCATCAGCAGTACCACGAACTGCAGGCAGAGAAACACAACTTN | benign | 149,072 |
Does the genetic variant at chromosome 9, position 110767989, impacting gene MUSK (muscle associated receptor tyrosine kinase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Congenital_myasthenic_syndrome_9', 'Fetal_akinesia_deformation_sequence_1'] | CAAAGGGTATGATCTAATGCTAACAGGCTGAGTGGGGAAACTAGCCCATCCTGCTTGTTCAGATTTTTCTCAGCCCCTCTGTGCAGCACTCACTCCTCCCAGGCAAGAGGTAGGATCCCTCTGGAATGAGGGTCTGAATTTCTTTATGGCCAGGTGTTACACAGAAAAGCTGGGGGTGGGTAGAGTAAATGTTTAGGTTTTATGGCTGGCCTTGAGGAAAAGGCGTTCTGGTGTCTGATCTGACTTGGAGAAGAGGGATTCTAGTGTCTAAGGTTTGCCTGAGGGAAGAAAGAGAGGAGAGACAGGAGGGCAGAAGGTCTGTTTCTGAGGCTGCTTCTTAGGCCTTCACCTTGGGGTGTCGTTTACTGAGCCTCAACAACAGCATCCTTGTTTCTGTCTAATTTTCTCTGGGGGTTTTCTCACCTTTACCTTGAGAAAGTTTTTGTGGAGTTTTGTGCTTTCTTATTCAAGGCCTTCATTTTAAATATTCCCAACAAACAAAGGGATACAGTAAAACTCATGTTGGCTAATTAGAAAAAGGCCAGTATGAATTAAAGGAAGACTCTATATTACAAAATATTGTTTTAAAGTATAGCTGTGTTTCTTGGAAGTTCATCATTTTACCTGAATGTATTATATCTCATTCCAATGAATTTGCTTTAAAGACCTGCCAGTGGTGGTTTGTAATTATAGTATTAATTTTTTAAATTCAATTGGGGTCACGTAACAATTTTAAAATTTGACACAAATTCTAATTTGTTTAATTTTCTTACTTTAAATTCTTTATATAAAGACAATGAAAAACTAAATTCGATAGTTGTACAAATCTAAATGAGAATATAACTTAAGAGTTTTCTTAAGTCATTACTAACACTATGGAAGATCTGATAGAACACATAAGAATATACTGAGACCATCACAGTGCCTACACATAATAAGTATTCAATATATGTTTGTCAGGTGAGAATATGAGTTGTTATAATTCCCAGCATTATATTAAGGGAACAAGTAGATGTGTGAAGAGAGTACCAATAGCATTTTCCATTCTCCCAATTGTCTTCAGTTATTATAGCAGATAAGTTTTTAATCCTATGTTTGTGCTAGCACTAGCATTTACAGGTTTCTCCCTGATATATGGCCCATTAACACACAATAATCCGAGTTCAGAGTAATTACTTACATCATTCAACAGAATAGATCACTGAGGCACTGGGTGACCAGTTGACTTTCCATGTGATGAGACATGATGAGAAAACAGCAAAGCTGAAGGTGCTACTTGGCTCCTCTGGAAGCCATATTTCTGCTTTCTCCTCCCTACATCACTTTCTTTTTCTTTAATGGAATTCTAGGAAGATGTGTGAGTGGGAGAATCTGAGTGTGGAAGGTGTTGCAAAGATGTATATGTTGTCAAAAATTAAGGTAAACTATCATAACACATAAATAAACTATGTTCCTAAAGCTGCAAACTTTTTAGGTGAGAGCAATTATTCTTATGCTCAATTATTTGTTAACCATCATGATGAAATGTCTTCCAGATGCATCTTTGCTTATATCAGCTTATTAACTAAGAGTAGTCAGATTCTATTTATAATGTAAAATATTAAAAATACCCAAATCTATTCAGTCCTTCATAGTTCCCAAAGCTTTCCACATCTATCGTCACATTTGGCCTTCTCAATAGCCCTGTGGAGTAGCTAGAGATGATATAATTGCAGCTGGAAATGAAGACAATATTCAAATGGAGCGTGTCAACCAATTTACTAGTACAATTTTCTCCTATTTCTGAGACACAGATGTGAAAACCAAAAAAAAAAAGAAAAGCAGAATGAATGCCAAGAAATAGCATGTGATTAGAAATGTTGTTCATTTCTTCTTTCAGTAAACCACAGAAAGATAACAAAGGCTACTGCGCCCAGTACAGAGGGGAGGTGTGTAATGCAGTCCTGGCAAAAGATGCTCTTGTTTTTCTCAACACCTCCTATGCGGACCCTGAGGAGGCCCAAGAGCTACTGGTCCACACGGCCTGGAATGAACTGAAAGTAGTGAGCCCAGTCTGCCGGCCAGCTGCTGAGGCTTTGTTGTGTAACCACATCTTCCAGGAGTGCAGTCCTGGAGTAGTGCCTACTCCTATTCCCATTTGCAGGTAAAATCTCAAAAATAAGTCAAAGGAAAAATTCCATTTTTCTATCTGCACAACAGAAGGAGTTTTTGAAAAATGTTGTAATATGCAACAGTAAAAGGAAAAGCTGGTTTTCATCCAAAATAGGAGGTTAATGCCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTCGGGAGGCCGAAGTGGGTGGATCACTTGAGGTCAGGAGTTTAACACCAGCCTGTCCAACATGGTGAAACCCCGTCTCTACTAAACATACAAAAATTAGCCAGGTGTGGTGGTGCACTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTGGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGAGTGTTGAGACTCTGTCTCAAACAAACAAACAAATAGGAGGTAATTAATCAGACAATATTTCTACCATATAAATCACTAAAGATAACCTAAAATACAAGTACTTAGAACCTCTAGAAAATATCATAAATGGTGTAATATTCCATTACTCTTGTTATTGTTCACATTATTATCATATCCATAAATATCCCAGATTTCTATCAGATGAAAGGAGAAATCTTAAACATGGACCTCATTAGTAAGCCAAGATAGAGAAAATAAAAACTGTACATTATTTGTCAATAAATGAGATCATGCCAAGCATCTCTGAATGTTATTTTAAAGTACATTCCATCCAAAATTCTAAGTTCTGATGCTGTTGCCTCATTTGGGTGGTTATAGGAAGGAATTAGATTATAAATAGATATTTTGTTAAACTCCCATACTTTTTAAATATTGAAATTGATAAATTTATGTTCAATAGAATTATCTTCATCTTTAATTACTTCTTATGTAGAAAAAAAAGAATCTAGTTTTTGAGCTAAATAGAACAAAGTTCAAATACTGTTAGTTCTGCTTTCTCGATGTGTGTGGTCTTGGCTAAACTTCAGTTTCCTCATCTGCACGGTAGAATTGAGAGGATTAAAGGAAAAATCACACTCATGGAATATGTCAGAAACTAGATAGACATTGTTATTCCTAAATTTTCTGTTGAGGAAACCCCATGACAACAACCAACACAGCACATTTCCACTTCTATTTTGATAAAACCAGAAACTATTTAAATATTGCAATAATTTGAGGACACTCTCTATTTAGCATTCAATAACAACAGTATGGTCATTAAATTAGAGTTTTGTATTCCTCAATTTACTGCAAAGTTTGAGGGTTTGGAGACACTATAAGAGTAATATAATTTGTTTATTCATCTAAGAAGATTGTATTGTGATCAGGCATGTTATCTAAAAATCTCTAGGGACTTCAGCATTGACAGAATAAGAAGGGGAAAGAGAAGGAGAGAAAAAGTAAAATTACTGCAAAAAAAAATGGGAAGAGTGGGTGAGGGGCAGTAAAATTTGTTTTAATAGAACTTAAGAAATACTGATGCTATTTCAACTGTCCTTGCAGTTATTTGAAAAAATAGTGTCTCTGTTAATTATCACTTCTTTAGTTTAGATTTCTCTTTCTTGGGCTTCTTTATAGGATTCTCCAAAATTGTTTATTTGACGTACTGCTCAACAGTGAAAATCCTTTTGCTAGAAAGTAGCACGTGTATAATAAACAGAATGTAACCAGCAAAATAAAGTGACAGTAGATTCTATCAGCTTTTCCTTTAGTACTACTAACATAATTTGTGGTGGCCACGGGATAGTTATCATACTTACACAGTGACACTCAGGCAAATCAGCTCAACACCATGGATAGATGCTTGAGAGAAATAATAATTAGATTAGAAAAATTCTCTGTGTGTGTGACAGCCATTGTGGTTTTCTGATTACAAAACCCACAAGACTCCATTGTATAAAAAAAGAACACAGTACTTTCATTGCTAAAACCCAGAAAGTTGGTCACTACTGAGGTGTGTGTT | CAAAGGGTATGATCTAATGCTAACAGGCTGAGTGGGGAAACTAGCCCATCCTGCTTGTTCAGATTTTTCTCAGCCCCTCTGTGCAGCACTCACTCCTCCCAGGCAAGAGGTAGGATCCCTCTGGAATGAGGGTCTGAATTTCTTTATGGCCAGGTGTTACACAGAAAAGCTGGGGGTGGGTAGAGTAAATGTTTAGGTTTTATGGCTGGCCTTGAGGAAAAGGCGTTCTGGTGTCTGATCTGACTTGGAGAAGAGGGATTCTAGTGTCTAAGGTTTGCCTGAGGGAAGAAAGAGAGGAGAGACAGGAGGGCAGAAGGTCTGTTTCTGAGGCTGCTTCTTAGGCCTTCACCTTGGGGTGTCGTTTACTGAGCCTCAACAACAGCATCCTTGTTTCTGTCTAATTTTCTCTGGGGGTTTTCTCACCTTTACCTTGAGAAAGTTTTTGTGGAGTTTTGTGCTTTCTTATTCAAGGCCTTCATTTTAAATATTCCCAACAAACAAAGGGATACAGTAAAACTCATGTTGGCTAATTAGAAAAAGGCCAGTATGAATTAAAGGAAGACTCTATATTACAAAATATTGTTTTAAAGTATAGCTGTGTTTCTTGGAAGTTCATCATTTTACCTGAATGTATTATATCTCATTCCAATGAATTTGCTTTAAAGACCTGCCAGTGGTGGTTTGTAATTATAGTATTAATTTTTTAAATTCAATTGGGGTCACGTAACAATTTTAAAATTTGACACAAATTCTAATTTGTTTAATTTTCTTACTTTAAATTCTTTATATAAAGACAATGAAAAACTAAATTCGATAGTTGTACAAATCTAAATGAGAATATAACTTAAGAGTTTTCTTAAGTCATTACTAACACTATGGAAGATCTGATAGAACACATAAGAATATACTGAGACCATCACAGTGCCTACACATAATAAGTATTCAATATATGTTTGTCAGGTGAGAATATGAGTTGTTATAATTCCCAGCATTATATTAAGGGAACAAGTAGATGTGTGAAGAGAGTACCAATAGCATTTTCCATTCTCCCAATTGTCTTCAGTTATTATAGCAGATAAGTTTTTAATCCTATGTTTGTGCTAGCACTAGCATTTACAGGTTTCTCCCTGATATATGGCCCATTAACACACAATAATCCGAGTTCAGAGTAATTACTTACATCATTCAACAGAATAGATCACTGAGGCACTGGGTGACCAGTTGACTTTCCATGTGATGAGACATGATGAGAAAACAGCAAAGCTGAAGGTGCTACTTGGCTCCTCTGGAAGCCATATTTCTGCTTTCTCCTCCCTACATCACTTTCTTTTTCTTTAATGGAATTCTAGGAAGATGTGTGAGTGGGAGAATCTGAGTGTGGAAGGTGTTGCAAAGATGTATATGTTGTCAAAAATTAAGGTAAACTATCATAACACATAAATAAACTATGTTCCTAAAGCTGCAAACTTTTTAGGTGAGAGCAATTATTCTTATGCTCAATTATTTGTTAACCATCATGATGAAATGTCTTCCAGATGCATCTTTGCTTATATCAGCTTATTAACTAAGAGTAGTCAGATTCTATTTATAATGTAAAATATTAAAAATACCCAAATCTATTCAGTCCTTCATAGTTCCCAAAGCTTTCCACATCTATCGTCACATTTGGCCTTCTCAATAGCCCTGTGGAGTAGCTAGAGATGATATAATTGCAGCTGGAAATGAAGACAATATTCAAATGGAGCGTGTCAACCAATTTACTAGTACAATTTTCTCCTATTTCTGAGACACAGATGTGAAAACCAAAAAAAAAAAGAAAAGCAGAATGAATGCCAAGAAATAGCATGTGATTAGAAATGTTGTTCATTTCTTCTTTCAGTAAACCACAGAAAGATAACAAAGGCTACTGCGCCCAGTACAGAGGGGAGGTGTGTAATGCAGTCCTGGCAAAAGATGCTCTTGTTTTTCTCAACACCTCCTATGCGGACCCTGAGGAGGCCCAAGAGCTACTGGTCCACACGGCCTGGAATGAACTGAAAGTAGTGAGCCGTCTGCCGGCCAGCTGCTGAGGCTTTGTTGTGTAACCACATCTTCCAGGAGTGCAGTCCTGGAGTAGTGCCTACTCCTATTCCCATTTGCAGGTAAAATCTCAAAAATAAGTCAAAGGAAAAATTCCATTTTTCTATCTGCACAACAGAAGGAGTTTTTGAAAAATGTTGTAATATGCAACAGTAAAAGGAAAAGCTGGTTTTCATCCAAAATAGGAGGTTAATGCCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTCGGGAGGCCGAAGTGGGTGGATCACTTGAGGTCAGGAGTTTAACACCAGCCTGTCCAACATGGTGAAACCCCGTCTCTACTAAACATACAAAAATTAGCCAGGTGTGGTGGTGCACTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTGGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGAGTGTTGAGACTCTGTCTCAAACAAACAAACAAATAGGAGGTAATTAATCAGACAATATTTCTACCATATAAATCACTAAAGATAACCTAAAATACAAGTACTTAGAACCTCTAGAAAATATCATAAATGGTGTAATATTCCATTACTCTTGTTATTGTTCACATTATTATCATATCCATAAATATCCCAGATTTCTATCAGATGAAAGGAGAAATCTTAAACATGGACCTCATTAGTAAGCCAAGATAGAGAAAATAAAAACTGTACATTATTTGTCAATAAATGAGATCATGCCAAGCATCTCTGAATGTTATTTTAAAGTACATTCCATCCAAAATTCTAAGTTCTGATGCTGTTGCCTCATTTGGGTGGTTATAGGAAGGAATTAGATTATAAATAGATATTTTGTTAAACTCCCATACTTTTTAAATATTGAAATTGATAAATTTATGTTCAATAGAATTATCTTCATCTTTAATTACTTCTTATGTAGAAAAAAAAGAATCTAGTTTTTGAGCTAAATAGAACAAAGTTCAAATACTGTTAGTTCTGCTTTCTCGATGTGTGTGGTCTTGGCTAAACTTCAGTTTCCTCATCTGCACGGTAGAATTGAGAGGATTAAAGGAAAAATCACACTCATGGAATATGTCAGAAACTAGATAGACATTGTTATTCCTAAATTTTCTGTTGAGGAAACCCCATGACAACAACCAACACAGCACATTTCCACTTCTATTTTGATAAAACCAGAAACTATTTAAATATTGCAATAATTTGAGGACACTCTCTATTTAGCATTCAATAACAACAGTATGGTCATTAAATTAGAGTTTTGTATTCCTCAATTTACTGCAAAGTTTGAGGGTTTGGAGACACTATAAGAGTAATATAATTTGTTTATTCATCTAAGAAGATTGTATTGTGATCAGGCATGTTATCTAAAAATCTCTAGGGACTTCAGCATTGACAGAATAAGAAGGGGAAAGAGAAGGAGAGAAAAAGTAAAATTACTGCAAAAAAAAATGGGAAGAGTGGGTGAGGGGCAGTAAAATTTGTTTTAATAGAACTTAAGAAATACTGATGCTATTTCAACTGTCCTTGCAGTTATTTGAAAAAATAGTGTCTCTGTTAATTATCACTTCTTTAGTTTAGATTTCTCTTTCTTGGGCTTCTTTATAGGATTCTCCAAAATTGTTTATTTGACGTACTGCTCAACAGTGAAAATCCTTTTGCTAGAAAGTAGCACGTGTATAATAAACAGAATGTAACCAGCAAAATAAAGTGACAGTAGATTCTATCAGCTTTTCCTTTAGTACTACTAACATAATTTGTGGTGGCCACGGGATAGTTATCATACTTACACAGTGACACTCAGGCAAATCAGCTCAACACCATGGATAGATGCTTGAGAGAAATAATAATTAGATTAGAAAAATTCTCTGTGTGTGTGACAGCCATTGTGGTTTTCTGATTACAAAACCCACAAGACTCCATTGTATAAAAAAAGAACACAGTACTTTCATTGCTAAAACCCAGAAAGTTGGTCACTACTGAGGTGTGTGTTNN | pathogenic | 149,075 |
Clinical classification of chromosome 9, position 114156007, gene COL27A1 (collagen type XXVII alpha 1 chain): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Steel_syndrome'] | ACTTTTCCTAAAGTTTGTTGAAACCAGACACCTTGCTCGACCGAGCCCGCGTGCAGCCAGGGTTTAAAAGGCCGCCTTCAGCGCCCCCTCCCCGCCCCCAGCGGAGACTTCAAAAGGCCCGGCGGGCGCCGCCGCCCCAGCACCTATGAGCCGCCCCCAGCTCTCGGAGCCCGCGCCGGAGCCCGTGGACGCAGAGCTGCCGAAGTTCGAGCGCAGGCGGACCGGGTCGGCGGCGCAGTCCCGCGCGCCCATGCCCCTCCCGGTGCCGCTGCGCTCCGCGCGCCCGCGCCCCGTTTAGGGAAGGGGACCTCGCCCCCCGCCCCCGCGCCCACGGCTGCGGGGACCCATGAATACAAATGCCGTTAGGCGCCGGAGGAAGGACCGACCGGCCAGCCTCGCACGTAGGGACCCAGTAAGTGCTTGGGGGCTCCTGGAGCGGTGCGAAGTGTTATATGCCTGTGTGTGCGCGCGCCTAAAGGTGTGCGCGTATGGGGAGGTGGGTACACGCGTGAGGAGTGAATGCGTGTGTGCACATGTGCGGTGGGCACTCTCGGAGAACTGTGTGCAAGTGAGGGTGTGCGCGCGTGTGTCCACCCGGGGTGTGTACATGTGTGGGGGCGATATGGCCAGGATAGCGTGCATTTGTGCCTGTGTAAGCATCCGTGTGCATGCTTCTGCGAGTGTAGAGTATCAGCGTGCGCCTGAGCCCAGATATCTGAGGATGCGTTTCGTGTGAACCTAGGAAGGGTGCGTGGCTGTCCCAGAATGGGACCGTGTGTGAGCGTGTGTCTGAGTTTGGGGAAAGGGTGGATACGTGTGGGAGTGTGTGTGTGCACCGGTGAATAAGTGTAACTTTGCTCGTGAACGAGTGGCAAGAGGTGGTAGAGGCGGAGGGAGCTGTGGTCCCAGGGCTGGACTGGAGTTTTGGGTGTGAGAATTTGCCCGGGGGCCAAGGTGTGCAGCTCTTAGCTCCCGGATGGGATCCGAGGGAGTTTTTGTCGATTCTGGGGAGGTGCGTGGTTAGTGGTGGTGGTGGGGTGCGGTTAGATTCCAATTGCTGACAGAAGGGAGAGAGAGGGTGGCAAACCCTTAACAAGCCCACCCTATATGTTCTCCAGGGCGCTCCGAGTCTGGGAGCGCAAACTTTTGGTGGGCGGTGGGGATCACGATACTGGTTGTCGTGGGCGTCTGGACACCAAGTTCTGGTCCTAGCTCCGTCCCTGAAACTGTGGGTTTCTTCCAGGAGTAGAATTTGGCCCTTCTCCCCTACCCCAACCCCCCATTGGAGGACCCCCAGCCTCACCAGTCAGAAGTTCCTAATCTCAGAACGGTGATCAAATCACCGTGAAGCCCTGGGCAGCCCCTTCCTCTCTGTGAATCTGTTTCCCCATCTATACAAGGAGGAGGGGGGCGGGTGTCCCATCGGGGCTGTAGTGGGCCAGCTGAGGCTGTACCCTTGGCTCCGGCCGGCAGGGGGCAGCAGGGGGCAGCAGAGGGCGGCCGGGAGCGGGGAGGAGGGAAGGTGGAGAGCCACCGCGGGCCGAGACTTTAAATCGCCTTCATTTCCCCCAAATCCTTCCTTTTCCTCTCCTCCCCCAGGCCGGCGGGGAGGCAGCTTCCACCGCCCTCCGCGCGCCCTCACCCGGCCTTGCTCTGCCTCCGGGGACCGCCAGCAGCCCGCCTCCAAAAGTTTGATCATCTCTCTCTCTCTTTTTCTTGCTTCTTCTTCCTTTTTGGTGGAAGCAGAAAAGGACCGAGGCAGGGGCGAGCGCGGCGCCCGGACTCCTGGGACCATGGGCCTGGCGCGGGCGCCCGCGGGGCCCCAGCCGCGCTGCCTGCCTGCTCGGGCGCCCCTGGGCGCGGGGCTGCGCTGGGGGCGCGGGGGCCGCGCGCTCTAAGCCGGCCTGGCGCGGCGGGGCGGGGGGCTGGCGGCCCCATGGGGCGCGCCCACACTTGCCCCCCGGGCTCGGGAGCATGAAGTAGGGGCCTGCCATGGGAGCGGGATCGGCGCGGGGGGCCCGAGGCACAGCGGCGGCGGCGGCGGCGCGCGGGGGGTGAGTACGAACTCGGGGACGCCCCCTCCCTAGCTTCCTGCTGCTCCAATCTCGGGGAGGGCCGGGGTTCCCCGCCATGCGGTCGCTTCCAGCGGAACGTCAGCTTCCTGCCCCTTCCTGCGCCCCCGCGAGGCGGGACGCCAAGGGTTAATAGGGGCTGCGCCCCCGGCCGGGCGAGAGTTGGCGAACGCTGCCCGCCCTGCCGCGCCTGGCCCGGCTGCCCGATCCCGTTGGGGCGGGGGCAGAGCCAGCCCGGGGGTCGGGGGTGGGGGTGGGTGGTGGCGCCTGGAGCGGCCGGCGGGGTGCGGAGGGGGGCTTTTTGGATGCTTGGGGGAGGAGGGGGGTCTCCGTTTGGGGCCGTCTCGGTGTGTTCCGGTGTCTCAGTGTCTGCAGGTCCCAAGCCTGTACGTCTCCGTTTCTATCTGTTCTTGTGAAATTGTCCGCAAGTTTCTAGGTCACCAGGTCTCGGGTTCTGCTCCTGTCTCCGTGTCTGTGTGGCTCTGCACGTCCCCGCGTTTCTGGAAATCTCCGCGTGTTTGTGTTAGTCGGCCTGGGTCTGTGTGTCTGTGTTTCCTGCTTCTCGGTTCCTGTCCCTTTCACGTGTGTAAGAGAGAAAAAGTGAGAGCCAGCATGTCAGAGCAGAAAGGGCCCTGGGCGATCACTGTGCGGAACCCCTCAGTGTACAGATCGGGAGACAGGGCCGGAGAGGGGCAGGGACTCTCCCAGGAGCGGCTGCGCGGAGCTGGGGCCCAGAGGCTGGGATTCCCAGCGTGTGGAGTAGGAGTTGTAAGAGAGAGTGAGCCTGTGCTGGAGCCGGCGCAGCGTGTGGGTGTGTGTGGGAGCCAGCAGCATGCAAGCAGCCCGTTGGGGCCTGTGGACGGCGCTCCTCTCTTTCCATCCTGCCCCCAGGACACCAGGACACTCCCCAGAGGCTGTTAGGGCTGTAGCTGGGCCCTGCCCCCTTTGAGCTGGAGTCCGCGGGATGACACCCCCTCCTTTCTTCCCCATGTCTTGGAAAAAGCTGGCTGTTTGCGATTCCCCCGCCCCGCACCCCCTCACCACAACACACACACACACACACACACACACACATACGCGCGCGCGGCACCAGTGAGCACACTGCTGACTCATTTTCTCCAGAAGACCCTGCGCCAGGGTAGATGCCAGCAGTTGGGCAGAAAAGTGGTGCCAGGCGAGCACCCCATGGTGGGGCTCCAGCTGTGGGCAAGTGGGCAGTCAACACTGCTCGGAGGCCCAGTCTCTGCCTTCTCCTGCCTCCCTGCCTCCCTTGACATCACGTTGTCCTGCATCATGTGCGCTCTGGCGCCAGCATACCTCTGCTCTCCAGCATGCCTCTGCTCTCCAGCATGCCTCTGCTCCTGGACCCTTCTGGCCGGACCAAACTCCATGTCATGTCTATGGACACATCCCTGGCCTCTGCCTCCTTCTGTTTCCTCCCTGTACTCAGAACATTCTCCCTCTCCTGTGCCTCCACCAGCGCTGCGGACCCTCAGCAGCCAGCAGCCTCCTGGTGGTCTCTGTCCCTTTCTGAGCACACTCCCCTGTTCTTTGTTGGCATTTTCTCTCCTCCATCTCTGTCCAGGGACCCTCTTGATACCCACATGCCTGGCTTGGCTACGCAGAGTAACATATCCACTGGTGGTAGGGGACAGCAGTGAGACACTCACAGAATCATGTTGGTGGGAGGCAGGCGGCACCACAGGAGGGCCATGAGGCTTGCCATCAGGCAGGCTCGAGTTTGAATCCTAACTCTGCTGTGCCAGCTTGGGTGAGCCACTCTGCTGCTTGTTTTTCTCTTCCACAAAACCGGCACCTTATTCCTAGCTGGCTGGGTTTTGTGAAGATGAACAGGACCATGCTTGTAAAGGGCTTAGAACAGGGCCTGGCATGTAATAAGTGCTCAGTAAACGGCAGCTGGTATTTGTATTATTCCCTTCATGTTGAATGGGTGTGTGAGTCAATGGGAAAGTTCTGGGCTGCATCCTCTCCAGACGATGACCTGTCTGTGTTCCCATGGAGGA | ACTTTTCCTAAAGTTTGTTGAAACCAGACACCTTGCTCGACCGAGCCCGCGTGCAGCCAGGGTTTAAAAGGCCGCCTTCAGCGCCCCCTCCCCGCCCCCAGCGGAGACTTCAAAAGGCCCGGCGGGCGCCGCCGCCCCAGCACCTATGAGCCGCCCCCAGCTCTCGGAGCCCGCGCCGGAGCCCGTGGACGCAGAGCTGCCGAAGTTCGAGCGCAGGCGGACCGGGTCGGCGGCGCAGTCCCGCGCGCCCATGCCCCTCCCGGTGCCGCTGCGCTCCGCGCGCCCGCGCCCCGTTTAGGGAAGGGGACCTCGCCCCCCGCCCCCGCGCCCACGGCTGCGGGGACCCATGAATACAAATGCCGTTAGGCGCCGGAGGAAGGACCGACCGGCCAGCCTCGCACGTAGGGACCCAGTAAGTGCTTGGGGGCTCCTGGAGCGGTGCGAAGTGTTATATGCCTGTGTGTGCGCGCGCCTAAAGGTGTGCGCGTATGGGGAGGTGGGTACACGCGTGAGGAGTGAATGCGTGTGTGCACATGTGCGGTGGGCACTCTCGGAGAACTGTGTGCAAGTGAGGGTGTGCGCGCGTGTGTCCACCCGGGGTGTGTACATGTGTGGGGGCGATATGGCCAGGATAGCGTGCATTTGTGCCTGTGTAAGCATCCGTGTGCATGCTTCTGCGAGTGTAGAGTATCAGCGTGCGCCTGAGCCCAGATATCTGAGGATGCGTTTCGTGTGAACCTAGGAAGGGTGCGTGGCTGTCCCAGAATGGGACCGTGTGTGAGCGTGTGTCTGAGTTTGGGGAAAGGGTGGATACGTGTGGGAGTGTGTGTGTGCACCGGTGAATAAGTGTAACTTTGCTCGTGAACGAGTGGCAAGAGGTGGTAGAGGCGGAGGGAGCTGTGGTCCCAGGGCTGGACTGGAGTTTTGGGTGTGAGAATTTGCCCGGGGGCCAAGGTGTGCAGCTCTTAGCTCCCGGATGGGATCCGAGGGAGTTTTTGTCGATTCTGGGGAGGTGCGTGGTTAGTGGTGGTGGTGGGGTGCGGTTAGATTCCAATTGCTGACAGAAGGGAGAGAGAGGGTGGCAAACCCTTAACAAGCCCACCCTATATGTTCTCCAGGGCGCTCCGAGTCTGGGAGCGCAAACTTTTGGTGGGCGGTGGGGATCACGATACTGGTTGTCGTGGGCGTCTGGACACCAAGTTCTGGTCCTAGCTCCGTCCCTGAAACTGTGGGTTTCTTCCAGGAGTAGAATTTGGCCCTTCTCCCCTACCCCAACCCCCCATTGGAGGACCCCCAGCCTCACCAGTCAGAAGTTCCTAATCTCAGAACGGTGATCAAATCACCGTGAAGCCCTGGGCAGCCCCTTCCTCTCTGTGAATCTGTTTCCCCATCTATACAAGGAGGAGGGGGGCGGGTGTCCCATCGGGGCTGTAGTGGGCCAGCTGAGGCTGTACCCTTGGCTCCGGCCGGCAGGGGGCAGCAGGGGGCAGCAGAGGGCGGCCGGGAGCGGGGAGGAGGGAAGGTGGAGAGCCACCGCGGGCCGAGACTTTAAATCGCCTTCATTTCCCCCAAATCCTTCCTTTTCCTCTCCTCCCCCAGGCCGGCGGGGAGGCAGCTTCCACCGCCCTCCGCGCGCCCTCACCCGGCCTTGCTCTGCCTCCGGGGACCGCCAGCAGCCCGCCTCCAAAAGTTTGATCATCTCTCTCTCTCTTTTTCTTGCTTCTTCTTCCTTTTTGGTGGAAGCAGAAAAGGACCGAGGCAGGGGCGAGCGCGGCGCCCGGACTCCTGGGACCATGGGCCTGGCGCGGGCGCCCGCGGGGCCCCAGCCGCGCTGCCTGCCTGCTCGGGCGCCCCTGGGCGCGGGGCTGCGCTGGGGGCGCGGGGGCCGCGCGCTCTAAGCCGGCCTGGCGCGGCGGGGCGGGGGGCTGGCGGCCCCATGGGGCGCGCCCACACTTGCCCCCCGGGCTCGGGAGCATGAAGTAGGGGCCTGCCATGGGAGCGGGATCGGCGCGGGGGGCCCGAGGCACAGCGGCGGCGGCGGCGGCGCGCGGGGGTGAGTACGAACTCGGGGACGCCCCCTCCCTAGCTTCCTGCTGCTCCAATCTCGGGGAGGGCCGGGGTTCCCCGCCATGCGGTCGCTTCCAGCGGAACGTCAGCTTCCTGCCCCTTCCTGCGCCCCCGCGAGGCGGGACGCCAAGGGTTAATAGGGGCTGCGCCCCCGGCCGGGCGAGAGTTGGCGAACGCTGCCCGCCCTGCCGCGCCTGGCCCGGCTGCCCGATCCCGTTGGGGCGGGGGCAGAGCCAGCCCGGGGGTCGGGGGTGGGGGTGGGTGGTGGCGCCTGGAGCGGCCGGCGGGGTGCGGAGGGGGGCTTTTTGGATGCTTGGGGGAGGAGGGGGGTCTCCGTTTGGGGCCGTCTCGGTGTGTTCCGGTGTCTCAGTGTCTGCAGGTCCCAAGCCTGTACGTCTCCGTTTCTATCTGTTCTTGTGAAATTGTCCGCAAGTTTCTAGGTCACCAGGTCTCGGGTTCTGCTCCTGTCTCCGTGTCTGTGTGGCTCTGCACGTCCCCGCGTTTCTGGAAATCTCCGCGTGTTTGTGTTAGTCGGCCTGGGTCTGTGTGTCTGTGTTTCCTGCTTCTCGGTTCCTGTCCCTTTCACGTGTGTAAGAGAGAAAAAGTGAGAGCCAGCATGTCAGAGCAGAAAGGGCCCTGGGCGATCACTGTGCGGAACCCCTCAGTGTACAGATCGGGAGACAGGGCCGGAGAGGGGCAGGGACTCTCCCAGGAGCGGCTGCGCGGAGCTGGGGCCCAGAGGCTGGGATTCCCAGCGTGTGGAGTAGGAGTTGTAAGAGAGAGTGAGCCTGTGCTGGAGCCGGCGCAGCGTGTGGGTGTGTGTGGGAGCCAGCAGCATGCAAGCAGCCCGTTGGGGCCTGTGGACGGCGCTCCTCTCTTTCCATCCTGCCCCCAGGACACCAGGACACTCCCCAGAGGCTGTTAGGGCTGTAGCTGGGCCCTGCCCCCTTTGAGCTGGAGTCCGCGGGATGACACCCCCTCCTTTCTTCCCCATGTCTTGGAAAAAGCTGGCTGTTTGCGATTCCCCCGCCCCGCACCCCCTCACCACAACACACACACACACACACACACACACACATACGCGCGCGCGGCACCAGTGAGCACACTGCTGACTCATTTTCTCCAGAAGACCCTGCGCCAGGGTAGATGCCAGCAGTTGGGCAGAAAAGTGGTGCCAGGCGAGCACCCCATGGTGGGGCTCCAGCTGTGGGCAAGTGGGCAGTCAACACTGCTCGGAGGCCCAGTCTCTGCCTTCTCCTGCCTCCCTGCCTCCCTTGACATCACGTTGTCCTGCATCATGTGCGCTCTGGCGCCAGCATACCTCTGCTCTCCAGCATGCCTCTGCTCTCCAGCATGCCTCTGCTCCTGGACCCTTCTGGCCGGACCAAACTCCATGTCATGTCTATGGACACATCCCTGGCCTCTGCCTCCTTCTGTTTCCTCCCTGTACTCAGAACATTCTCCCTCTCCTGTGCCTCCACCAGCGCTGCGGACCCTCAGCAGCCAGCAGCCTCCTGGTGGTCTCTGTCCCTTTCTGAGCACACTCCCCTGTTCTTTGTTGGCATTTTCTCTCCTCCATCTCTGTCCAGGGACCCTCTTGATACCCACATGCCTGGCTTGGCTACGCAGAGTAACATATCCACTGGTGGTAGGGGACAGCAGTGAGACACTCACAGAATCATGTTGGTGGGAGGCAGGCGGCACCACAGGAGGGCCATGAGGCTTGCCATCAGGCAGGCTCGAGTTTGAATCCTAACTCTGCTGTGCCAGCTTGGGTGAGCCACTCTGCTGCTTGTTTTTCTCTTCCACAAAACCGGCACCTTATTCCTAGCTGGCTGGGTTTTGTGAAGATGAACAGGACCATGCTTGTAAAGGGCTTAGAACAGGGCCTGGCATGTAATAAGTGCTCAGTAAACGGCAGCTGGTATTTGTATTATTCCCTTCATGTTGAATGGGTGTGTGAGTCAATGGGAAAGTTCTGGGCTGCATCCTCTCCAGACGATGACCTGTCTGTGTTCCCATGGAGGAN | pathogenic | 149,162 |
Is chromosome 9, position 114252641, gene COL27A1 (collagen type XXVII alpha 1 chain) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Steel_syndrome'] | CTTTCGGGAATGTGTCTCATAGGGATTTATGGGATTCATTGGTCTGGTCGGGGAGCCAGGAATCGTGGGAGAAAAGGTAAGTGGTGTTGAGGGGAAAAGATAAACAATTAGAGCTTGTGTTTTGAAATTGTAAAAAGGTGAAGAGGCCCTTTGACCTGGGGATTTCAGAATACCCTCCCCTAGCCTCTCTCCTGACCTGGCATTCTGAGTCTGCCAAGAGACATTGTTCCCTTTCCTGGCATCCCTTGGGGTTCTATCCCTGCCCTACTGTCATCAGCCTCAAGCACAGTTAGACTTTTGTGTGACAACCAGCAGATGCATGTGACCTGGGCTCCTCACAGCTGCCTACTGGCCCTGCACAGGGGTCGGCGAGAGCAGGGAGGAAAAGACTCATCTTTACAAAGAGGAAAGATGAGGTTGCCTTGCTAAGCCTCTGTTTTAGATGAGATAACAGAGGCTCAAATAGGGGAGGTGACTTACTCCAGGTCACCCAGATAATAAGTGGCAGTGCTGAGATTTGAACCAGGTTCATTGCCAAAGGTTAGCTACACTTTGCTCACTAAGACACTCTGCCTCATGTTGGCTCCCAGCTCCCACCAAGGGCCTTGGAGGCACTTGTCTTCCTTTGTATGGGTTTATCCGATCCCCAGAGCAGGCCCTCTGGGAGAACCAATATTATTCCCATTGAATAGATGGAGGAACTGAGGTCCAGAGGGAGGAAGTATCCCCCGCAAGTCTGGCCCCGCCTAACTCTCCAGGATCCTCTTGTGCCACACTCTATCACTCTATGTGGCCCAGACCCTCGGGCCTCTGCCTTCCTCCTCCTCCTCCTCCCTCGCTTCCCCCTCCTCCTCCTTCCCCTTCTGCTCCTCCTCCTTTTAAATTCAGCTTTTTATCTTGAAATTTTAAATTTAACTTTTTATTTTGAAATAATGACAGATTCACAAGAAGTTGCAAAAAATAGTACCCTTCACCCTGTTTCTTCCAGTGGTAGCATCTTACATAATGATAGCACAACATCAAAGCCAACTCTGGGCTTCTGCTGTTGCTCAAATGACCCATGTCCCTTCTCACCTACAAACCATTGACTGCGCCATTCCCTTAGCCAAATGCTTTCTTCCCATTGCCATCTGCCTCCACCCTTTCTGCCCAGATGCTCTTCATTATCCTTCAGCTCTTGGGTCAAGAGGGACTTCCCGAGGGAAGCTTTCCCTGACCGGCTCTGCCCCCAAGTGGGTCAAGTCCTCCAATAATAACACCTTAGCACCATGACCCCCACCCTCACTGCACTGTGTCTCCTACAACCCTCTGAGTGCCTTGCTCCATGGGAGCAGGGCTGCTCACCATTGTATATTCAGAGTCTCGCAGATAGTGTCAGACACATAGTAGGTGCTCAATAGATATTTGCTGGCTGGGTGGATACAAGAAACAGAGCCTCACGAAAACAGAGCCAAGATTCGAACCCAGAGCACCTACCTTCTGGCTGGAGCTGTCTGCTACACTGCCAACTCTGCCCAGTGTGTCTGGATTGGTCGAGAGGGAATGAGTTATGTCTCTGATTCTCTAGCATCTCATCTAGGTTTGGACAGGGAGTTTGGAGAGTGAAAGACATGCCTTCTCTTGCTGTTTCTGCCTCAGCAAGCCTAGCCCAGGGGATGCCAGGCCTAATAAGGACCAACATGATGTGGGCCAGGATCAAAGGGGACAGTGTAATTAGTGCTTCCTTAATCAGGACCATCCTTGGAGGGAAATTCACTGCGTGGCCCACTACAGGGGATGCTGAGGCCTTCCAGGGCTTGCCAGAGGTCTTGGCTTCCTCTGAGTGAAATCCCAGATCCCCACCTGGGTGATGTGGCCATGAACTAGGCAGGGACCCTCTAGAGACCTTGAGCAAACCCCTACCTCTCTTTGAGCCTCTGGATGGCCCTCTGCACCTGCCTCCCACAGAGCCACCCCACAGCCATAGCCGTGACCTGCCTGCATTGCTGTCTCCATCACAGGGTGATCGTGGCATGATGGGACCCCCAGGCGTGCCTGGACCCAAGGGGTCGATGGTAAGGAGTAAGTCTGCATCCTCTTGCCCTCTCCTGTTGCAGCCTTGAGTGACAGCTCTGCTCTCCTCCATGAACCGCTTACCCCAGACGTTCAGAATGACCAGCTCCCTCTTTGTCCAGGGGGCCTAGCTGCTGTCCTCCTGGCTTTGCACTGGGGCTGAGCCGACCGAGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTAGGTGGCTGGGTGTGGTGGCTCACACCTGTAATCTCAGCACTTCGGGAGGCCGATCACTTGAGGCCAGAGTTCAAGACCAGCCTGACAAACATACCAAAACCTTGTCTCTACGGAAAATACAAAAATTCGCTGGGCGTGGTGACACGCACTTGTAATCCCAGATACTCAGTAGGCTGAGGCATGAGAATCGCTTGAACCCAGAAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCTGCCTGGGTGATAGAGCTAGACCCTGTCTCAAAAAAAAGAAAGGAAAAGAAAGAAAGAGACAGAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGGAAGGGAGGGGAGAAAGAAAGAAGGGAGTGGAGGAAGAAAGAAAGACGAAAGAAAGAAAGAAAAAAGAAAGAGGAAAAAAGACAGAAAGAAGAGGAGAAAAAAGAGGAGGGAGGGAGGGCGGGAGGGGAGGAAGAAAGGAAAGAAAGGAAAAGAAAAGAAAGGAAGGAATGAAGGAAGGAAGGAAGAACAGAAGAACAGAAGAGAAGAGAAGAGGAGAAAAAGAATAAGGGTTAGGAGTTCAAGCCTCAGAATCAGACAGACCTGGGTAGAATCCCAGCTACACCACTTTCTGACTATAATCCTGGGGCAGATCTGACTGTATTCCTGGGGCAGATCATTTAACTTCTCCAAGCCTGAATTTTGCTCATTTGAAAAACAGAAAAAAGAATCATGGTCAGGATAGTGTGATCGTGTGGGTTAAATGGAAGCGTGGGGCTAATGTTCATTACAGAATGGTGTTTGTTCCCTGGAAGCATTTTGGTTATTAGCAGCATTATTGCTTTTGTCCATTCACTCATTCACTCTGTAGTTACTGAGCGATAAGTGCTTGTGGGCAGTTTCAGGAGCTGGGTGAAGGGGCCCAATCTCCACTCACTGCAACCTCCACCTCCTGGGTTCAAGAGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATCACAAGCGTGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGGCAGTTCCAGGAGCTGGGGATGTGGCAGCAAGAAAGGTAGAAAGTGGTCCCTTCCTTTGGAGCATGTAGTCTGGTATGGGGGGGCAGGGTAGATAGAACCCAGTAAGTGATGTCTGTTCTGGAAGAGCAGGCACAAAGATGGGAAATGCTGGACAAACAGGGCTGAGGGTCCTCAGGGGCCTGGGCTTCTCATGATGACTGAGGAAGCAGGGTTGGTGGGAGGCTCTCAAGGCAGAGTGGTGGGAGAGGCTGGGAGAGCTGGGGGAAGGGTGCGGCCAGGAGCACTCAAGTTCAAGAGCCCCTTCTCCTTCCCAGGGGTGATGATGTGCAGGGGGTGGGGGTGGGCTTGCTCTCATTTGGAGCAGGTAGAACTTGCTTCAGATCCCTGTTTCTGCCAATGGAGGATGGAAACTAGGAAAGGGCACTCGCTTCAGCCAAAGCCAGGGGTCAGGGCTGGGAGCCCAGTCCGAGGTGGGCTTGGGGAAGTTGGGGAGGGTGTGGGGGTAGAGGGACCAGCCCAGGCACAGATCCGGAGGTAGGGCTGAGGGGCGATGAGCTCAGGTTGCCTGGGTGTCTCCAAAGTCCAGACTGAGGAGTTCCCTGGGGTCTGATGAGGAAGGGCCCTGAAGCCTTTCATGGTTTGAA | CTTTCGGGAATGTGTCTCATAGGGATTTATGGGATTCATTGGTCTGGTCGGGGAGCCAGGAATCGTGGGAGAAAAGGTAAGTGGTGTTGAGGGGAAAAGATAAACAATTAGAGCTTGTGTTTTGAAATTGTAAAAAGGTGAAGAGGCCCTTTGACCTGGGGATTTCAGAATACCCTCCCCTAGCCTCTCTCCTGACCTGGCATTCTGAGTCTGCCAAGAGACATTGTTCCCTTTCCTGGCATCCCTTGGGGTTCTATCCCTGCCCTACTGTCATCAGCCTCAAGCACAGTTAGACTTTTGTGTGACAACCAGCAGATGCATGTGACCTGGGCTCCTCACAGCTGCCTACTGGCCCTGCACAGGGGTCGGCGAGAGCAGGGAGGAAAAGACTCATCTTTACAAAGAGGAAAGATGAGGTTGCCTTGCTAAGCCTCTGTTTTAGATGAGATAACAGAGGCTCAAATAGGGGAGGTGACTTACTCCAGGTCACCCAGATAATAAGTGGCAGTGCTGAGATTTGAACCAGGTTCATTGCCAAAGGTTAGCTACACTTTGCTCACTAAGACACTCTGCCTCATGTTGGCTCCCAGCTCCCACCAAGGGCCTTGGAGGCACTTGTCTTCCTTTGTATGGGTTTATCCGATCCCCAGAGCAGGCCCTCTGGGAGAACCAATATTATTCCCATTGAATAGATGGAGGAACTGAGGTCCAGAGGGAGGAAGTATCCCCCGCAAGTCTGGCCCCGCCTAACTCTCCAGGATCCTCTTGTGCCACACTCTATCACTCTATGTGGCCCAGACCCTCGGGCCTCTGCCTTCCTCCTCCTCCTCCTCCCTCGCTTCCCCCTCCTCCTCCTTCCCCTTCTGCTCCTCCTCCTTTTAAATTCAGCTTTTTATCTTGAAATTTTAAATTTAACTTTTTATTTTGAAATAATGACAGATTCACAAGAAGTTGCAAAAAATAGTACCCTTCACCCTGTTTCTTCCAGTGGTAGCATCTTACATAATGATAGCACAACATCAAAGCCAACTCTGGGCTTCTGCTGTTGCTCAAATGACCCATGTCCCTTCTCACCTACAAACCATTGACTGCGCCATTCCCTTAGCCAAATGCTTTCTTCCCATTGCCATCTGCCTCCACCCTTTCTGCCCAGATGCTCTTCATTATCCTTCAGCTCTTGGGTCAAGAGGGACTTCCCGAGGGAAGCTTTCCCTGACCGGCTCTGCCCCCAAGTGGGTCAAGTCCTCCAATAATAACACCTTAGCACCATGACCCCCACCCTCACTGCACTGTGTCTCCTACAACCCTCTGAGTGCCTTGCTCCATGGGAGCAGGGCTGCTCACCATTGTATATTCAGAGTCTCGCAGATAGTGTCAGACACATAGTAGGTGCTCAATAGATATTTGCTGGCTGGGTGGATACAAGAAACAGAGCCTCACGAAAACAGAGCCAAGATTCGAACCCAGAGCACCTACCTTCTGGCTGGAGCTGTCTGCTACACTGCCAACTCTGCCCAGTGTGTCTGGATTGGTCGAGAGGGAATGAGTTATGTCTCTGATTCTCTAGCATCTCATCTAGGTTTGGACAGGGAGTTTGGAGAGTGAAAGACATGCCTTCTCTTGCTGTTTCTGCCTCAGCAAGCCTAGCCCAGGGGATGCCAGGCCTAATAAGGACCAACATGATGTGGGCCAGGATCAAAGGGGACAGTGTAATTAGTGCTTCCTTAATCAGGACCATCCTTGGAGGGAAATTCACTGCGTGGCCCACTACAGGGGATGCTGAGGCCTTCCAGGGCTTGCCAGAGGTCTTGGCTTCCTCTGAGTGAAATCCCAGATCCCCACCTGGGTGATGTGGCCATGAACTAGGCAGGGACCCTCTAGAGACCTTGAGCAAACCCCTACCTCTCTTTGAGCCTCTGGATGGCCCTCTGCACCTGCCTCCCACAGAGCCACCCCACAGCCATAGCCGTGACCTGCCTGCATTGCTGTCTCCATCACAGGGTGATCGTGGCATGATGGGACCCCCAGGCGTGCCTGGACCCAAGGGGTCCGATGGTAAGGAGTAAGTCTGCATCCTCTTGCCCTCTCCTGTTGCAGCCTTGAGTGACAGCTCTGCTCTCCTCCATGAACCGCTTACCCCAGACGTTCAGAATGACCAGCTCCCTCTTTGTCCAGGGGGCCTAGCTGCTGTCCTCCTGGCTTTGCACTGGGGCTGAGCCGACCGAGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTAGGTGGCTGGGTGTGGTGGCTCACACCTGTAATCTCAGCACTTCGGGAGGCCGATCACTTGAGGCCAGAGTTCAAGACCAGCCTGACAAACATACCAAAACCTTGTCTCTACGGAAAATACAAAAATTCGCTGGGCGTGGTGACACGCACTTGTAATCCCAGATACTCAGTAGGCTGAGGCATGAGAATCGCTTGAACCCAGAAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCTGCCTGGGTGATAGAGCTAGACCCTGTCTCAAAAAAAAGAAAGGAAAAGAAAGAAAGAGACAGAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGGAAGGGAGGGGAGAAAGAAAGAAGGGAGTGGAGGAAGAAAGAAAGACGAAAGAAAGAAAGAAAAAAGAAAGAGGAAAAAAGACAGAAAGAAGAGGAGAAAAAAGAGGAGGGAGGGAGGGCGGGAGGGGAGGAAGAAAGGAAAGAAAGGAAAAGAAAAGAAAGGAAGGAATGAAGGAAGGAAGGAAGAACAGAAGAACAGAAGAGAAGAGAAGAGGAGAAAAAGAATAAGGGTTAGGAGTTCAAGCCTCAGAATCAGACAGACCTGGGTAGAATCCCAGCTACACCACTTTCTGACTATAATCCTGGGGCAGATCTGACTGTATTCCTGGGGCAGATCATTTAACTTCTCCAAGCCTGAATTTTGCTCATTTGAAAAACAGAAAAAAGAATCATGGTCAGGATAGTGTGATCGTGTGGGTTAAATGGAAGCGTGGGGCTAATGTTCATTACAGAATGGTGTTTGTTCCCTGGAAGCATTTTGGTTATTAGCAGCATTATTGCTTTTGTCCATTCACTCATTCACTCTGTAGTTACTGAGCGATAAGTGCTTGTGGGCAGTTTCAGGAGCTGGGTGAAGGGGCCCAATCTCCACTCACTGCAACCTCCACCTCCTGGGTTCAAGAGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATCACAAGCGTGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGGCAGTTCCAGGAGCTGGGGATGTGGCAGCAAGAAAGGTAGAAAGTGGTCCCTTCCTTTGGAGCATGTAGTCTGGTATGGGGGGGCAGGGTAGATAGAACCCAGTAAGTGATGTCTGTTCTGGAAGAGCAGGCACAAAGATGGGAAATGCTGGACAAACAGGGCTGAGGGTCCTCAGGGGCCTGGGCTTCTCATGATGACTGAGGAAGCAGGGTTGGTGGGAGGCTCTCAAGGCAGAGTGGTGGGAGAGGCTGGGAGAGCTGGGGGAAGGGTGCGGCCAGGAGCACTCAAGTTCAAGAGCCCCTTCTCCTTCCCAGGGGTGATGATGTGCAGGGGGTGGGGGTGGGCTTGCTCTCATTTGGAGCAGGTAGAACTTGCTTCAGATCCCTGTTTCTGCCAATGGAGGATGGAAACTAGGAAAGGGCACTCGCTTCAGCCAAAGCCAGGGGTCAGGGCTGGGAGCCCAGTCCGAGGTGGGCTTGGGGAAGTTGGGGAGGGTGTGGGGGTAGAGGGACCAGCCCAGGCACAGATCCGGAGGTAGGGCTGAGGGGCGATGAGCTCAGGTTGCCTGGGTGTCTCCAAAGTCCAGACTGAGGAGTTCCCTGGGGTCTGATGAGGAAGGGCCCTGAAGCCTTTCATGGTTTGA | pathogenic | 149,230 |
Mutation at chromosome 9, position 114275666, within COL27A1 (collagen type XXVII alpha 1 chain): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Steel_syndrome'] | CTCTCCTCTGGATGCACACCAGTTTATCAGTGTCCCTCGTAAACCTTGGCACTGGGGGACAGAACTGGTAAAGACACACTATGCTTTTCCAAGCCTGCTCTTCTCGCCCATCCCTTCCTGATGGACGCCGCCCCTCAGCAGCCATGCCCGTGCTGCACTCCACACCTGCTCTGCTCACGGTGATGAGGGTGACAGCCCACGCCCCATCCTGGAATCCTGCATGCCCCATCCTGGAACCCCACCTGCCCCCAATCTCTCTCAGAGTACGCAAAGATTACCGTGATGAGATAAGGCAAGCTTAGAGTGACACTGATTGCTTCAAAACCATAAAAAGCCCATGCCAGCCTGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAAGTGAGTGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGCGTGCCTGCAGTCCCAGCTAGTTGGGAGGCGGGGGCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAATGAGATCCGTCTAAAAAAAAAAAAAAAAAGCCCATGCCAAGGGTTGCCTTTCCAAGGAAATAACCTCAGGTGCCCCAAAGGTCCGAAGCCCCAAGAAGACCTTGGTTACAGCCCTATCACTGTAAAGAGGATACGCTCAGGATCCTGCTTCAAAGTCCAGCTCCACCGCTAGCCAGTTGTGGGCCTCTGGGCCAGACCACTTGATTTAGCTCTGCCTCAGTTTCCTCTTCTGTAAAATGGGACTAAAAGCGGACCAGCCTTAGAAAGCTTTTGTGGGGATTAAGTCAGTTAATAGATGTTAAAGGACTCAGACTATGGTCCTGACATGGTTAGTGCTATATAAATGTTAGCTCCATCCACTCCCCAGAGAAAGTATTCTGCAGCCAATAAGAATGATCGCCATGCAGAGCCCAGAGCGATAGGAGGGCACGTTCACCATAGAGCAAAGCAGTAACTATAACAAACAAAGATGGAGACCAGCAGTCCAGTGGGATTGTGCCTTTAGAGCTTAGTTTACTGCTGTCCGATTCATTGCCTTGGGAGAGTTGCTTCACTGCCCTGAGCCTGGTACATACCATCCAAACTGTTACCTACCATTTATTATTATTATTATTATTCACTGTGTTTTTGTCATCGAGGATTGAAAATACAACTCAGAAAAATGGAAAGAGTGGTTCTGAGAAGGAGAATTGGGTGAATTTTCTTTCTTGATGAAAATTTCTTTCAGCTAGTTGCAGCAGCTCATACCTGTAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGAATTGCTTGAGCCCAGCAGTTGGAGACCAGCCTGGTCAATGGTCTCCAACTGCTGGGCTCAAGCTCTCTTGTAGCAAGACCCCATTTCTACAAAAAAAGAAATTTTTTTTCAATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGGTCGAGGCTGCGGTGACCTATAATTGCGCCTCTGCACTCCAGCCTGGGAGAGAGTGAGACTCTGTCTAAAAAATAAAAAAAAAAAATCTGCTTCATAAGACTCTTGTTCTCCCAATGTGTCTAAGTTGGAGAGAAATTGCCCTTGTCTCCTGTGAACTCCATGGGGTGGGTGCAGTCAGGACCCCGGCTTATCTCTGAGTCACTCTGCCCTTCGCAGCCCAGGCCCAGGCAGGGACACATGGGAGCCTCTACGTCTGGGATGCATCCTTGTGCAAGCTTAGAGCTACACTGGGCTTGGCAGCCGAGTCACAGCACCCTGCCTTTTTGGCTGCAGAGGGAACTATCGAGAATCTAGGGACCAGTTGGCTGTGGATGCCTGAATGGAGCCCTGAGATTTGGGGCCTCTGATGCACTTGGCAACTAACTTATTCTCTCTCTCTCTCCCCTCTTCATGCCCTGCCACCCAGGGGGACAGGGGAGACCCAGGGCCTGATGGAGAACATGGCGAGAAAGGCCAGGAAGGGCTGATGGGTGAGGACGGGCCCCCCGGCCCCCCTGGCGTCACTGGTGTCCGGGTGAGTGTGCAGGCCCCTTGCAGCGCCTGGAGCTCTGGGGTACCCTGAACTCTCATGCCTGTGCAGGCGGCTGGGCGGGAGGGCTTTTGGTCGTGCCACTGAAGGATCTTCTGCTGTGGTCCTTTCTCCACCTGGCAGTTTGCCAGAGAACCAATCTGCTCAATGCTCCATGGCTCTGGAGAACAACCTCGGTTACTCATCCTCCTGGCTGCCCTGCCCTGTGCAAACCTGGTCCCTGCCGACCTCATCTCATCCATCCCCCATATCCAGACACACTAAACTTTTTTCAGTTTCTTGGACAAGCTGTGGCCCTTACCCCTGGGCCTTTGCATGTGCTCTGTCTAGGACACTCTCCCTTCTTCACTCCCCTGTCACCTGCTTAAGTTCTATTTGGCCTTCAGGTATCACCATAGACATCACCTGCTCCAAAAAGCCATTCCTGCCCCCAGGCTGGGCCATGAGCCCTCAGGGACATGCATAACCTTCAGTGTATGTCTTGGCTCCATGAAGACCAAGACCTTTTCTGGCCTTCATTTACGTCTTTAACAGTGCCTTGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGCAGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGTAAAATTAGTCAGGCATGGTGGCGCATGCCTATAGTCTCAGTTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGGGGTTGCAATGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAACAAGACTTTGTCACAAAAAAACAAACAAACAACAACAACAACAAAACCAGTACCTGACACATAAGAGGTGACCAAAGTCTGTTTGTTGATTGAGAAGACGGAGGAACTCTGCTCTTCCACCCTAACAGAAATGTACTTAGTCAGTCCACAGACCCTCACGAGCATCTTCCCTGGGCCAGGTCCCCTGAGATTGAAGAGGTAAATCAGAAAGCATCCCTGACTTTGAGGGACATAGAAGCCAGTAGGGAAGGGAGCAGAATTCTCCTGTTTCAACATGTACAGACAAGTTGCCCAATGCTTTCTCGAAGGTTCCCTCTTTGATACCGATAGCAACCCCTGAGGATTGGGAAAATCGGAGAGGTAAAGGAAACTTCCCAGGCTCACACAGTGAGAAATGACAAAGCTGGAATTTGAACTTAGGCCTGCATGACTCTACGCATACTGCCCCTGTGCTCTGGCAGAGTTGGAATCCAGGGCTTGGCTGTGGGGCTGTGAGGATGAGCTGGAGGCAGGTGGAAGCTTGATTTTTGAGTGTCGCAAATACTGGACTGATGACTCGGAACTTGACTTGGTAGTGGGGGGCAGTGGTAGTCTTGTACAGTTGAGCAGGGTTTGTGTGACCCAGGAGTGCTGGGTCGGTTCAGTTGAACTCCTTGGGACCCGTGGATTAGGTGGCCTCGTAGACAAAATGCCCAAATGCACAGGCCTGCTGGCATCTACCTTGAGCCAACCAGGTGGTGAGAACTCATGCCTCTGCTGCCATCCCAGTCTCCCTGGGGTGTCATTTTCACTCTTCATCCCTCAAGCGGAGAGACTGACGTTGTTACCTAGGCAAAGCAGCCCAGTTTGATTCAGGCCTGCTCTTGACACTGTTTTTCCCCCCTGAAGTGTTTACATGACTAACCTAGGACAGATCCAAGTTAGCCTGCAACAAACTATGGTTGTGGGAAAATATTTGTTTCCTAAAAATAGCACTGAAGTGCCAATCCCCCTAAACAGCTGCAACAGAATGAACTCACCAAACTAGAGAAGAATACGAGGGCGCTGAGTCAGCCAGGAGGCTTCCCCCAGGCTTGACTCAGTGGCGGGCTTGACTCAGCGGCGGGGAAGTAGGCCAAGGGGA | CTCTCCTCTGGATGCACACCAGTTTATCAGTGTCCCTCGTAAACCTTGGCACTGGGGGACAGAACTGGTAAAGACACACTATGCTTTTCCAAGCCTGCTCTTCTCGCCCATCCCTTCCTGATGGACGCCGCCCCTCAGCAGCCATGCCCGTGCTGCACTCCACACCTGCTCTGCTCACGGTGATGAGGGTGACAGCCCACGCCCCATCCTGGAATCCTGCATGCCCCATCCTGGAACCCCACCTGCCCCCAATCTCTCTCAGAGTACGCAAAGATTACCGTGATGAGATAAGGCAAGCTTAGAGTGACACTGATTGCTTCAAAACCATAAAAAGCCCATGCCAGCCTGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAAGTGAGTGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGCGTGCCTGCAGTCCCAGCTAGTTGGGAGGCGGGGGCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAATGAGATCCGTCTAAAAAAAAAAAAAAAAAGCCCATGCCAAGGGTTGCCTTTCCAAGGAAATAACCTCAGGTGCCCCAAAGGTCCGAAGCCCCAAGAAGACCTTGGTTACAGCCCTATCACTGTAAAGAGGATACGCTCAGGATCCTGCTTCAAAGTCCAGCTCCACCGCTAGCCAGTTGTGGGCCTCTGGGCCAGACCACTTGATTTAGCTCTGCCTCAGTTTCCTCTTCTGTAAAATGGGACTAAAAGCGGACCAGCCTTAGAAAGCTTTTGTGGGGATTAAGTCAGTTAATAGATGTTAAAGGACTCAGACTATGGTCCTGACATGGTTAGTGCTATATAAATGTTAGCTCCATCCACTCCCCAGAGAAAGTATTCTGCAGCCAATAAGAATGATCGCCATGCAGAGCCCAGAGCGATAGGAGGGCACGTTCACCATAGAGCAAAGCAGTAACTATAACAAACAAAGATGGAGACCAGCAGTCCAGTGGGATTGTGCCTTTAGAGCTTAGTTTACTGCTGTCCGATTCATTGCCTTGGGAGAGTTGCTTCACTGCCCTGAGCCTGGTACATACCATCCAAACTGTTACCTACCATTTATTATTATTATTATTATTCACTGTGTTTTTGTCATCGAGGATTGAAAATACAACTCAGAAAAATGGAAAGAGTGGTTCTGAGAAGGAGAATTGGGTGAATTTTCTTTCTTGATGAAAATTTCTTTCAGCTAGTTGCAGCAGCTCATACCTGTAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGAATTGCTTGAGCCCAGCAGTTGGAGACCAGCCTGGTCAATGGTCTCCAACTGCTGGGCTCAAGCTCTCTTGTAGCAAGACCCCATTTCTACAAAAAAAGAAATTTTTTTTCAATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGGTCGAGGCTGCGGTGACCTATAATTGCGCCTCTGCACTCCAGCCTGGGAGAGAGTGAGACTCTGTCTAAAAAATAAAAAAAAAAAATCTGCTTCATAAGACTCTTGTTCTCCCAATGTGTCTAAGTTGGAGAGAAATTGCCCTTGTCTCCTGTGAACTCCATGGGGTGGGTGCAGTCAGGACCCCGGCTTATCTCTGAGTCACTCTGCCCTTCGCAGCCCAGGCCCAGGCAGGGACACATGGGAGCCTCTACGTCTGGGATGCATCCTTGTGCAAGCTTAGAGCTACACTGGGCTTGGCAGCCGAGTCACAGCACCCTGCCTTTTTGGCTGCAGAGGGAACTATCGAGAATCTAGGGACCAGTTGGCTGTGGATGCCTGAATGGAGCCCTGAGATTTGGGGCCTCTGATGCACTTGGCAACTAACTTATTCTCTCTCTCTCTCCCCTCTTCATGCCCTGCCACCCAGGGGGACGGGGAGACCCAGGGCCTGATGGAGAACATGGCGAGAAAGGCCAGGAAGGGCTGATGGGTGAGGACGGGCCCCCCGGCCCCCCTGGCGTCACTGGTGTCCGGGTGAGTGTGCAGGCCCCTTGCAGCGCCTGGAGCTCTGGGGTACCCTGAACTCTCATGCCTGTGCAGGCGGCTGGGCGGGAGGGCTTTTGGTCGTGCCACTGAAGGATCTTCTGCTGTGGTCCTTTCTCCACCTGGCAGTTTGCCAGAGAACCAATCTGCTCAATGCTCCATGGCTCTGGAGAACAACCTCGGTTACTCATCCTCCTGGCTGCCCTGCCCTGTGCAAACCTGGTCCCTGCCGACCTCATCTCATCCATCCCCCATATCCAGACACACTAAACTTTTTTCAGTTTCTTGGACAAGCTGTGGCCCTTACCCCTGGGCCTTTGCATGTGCTCTGTCTAGGACACTCTCCCTTCTTCACTCCCCTGTCACCTGCTTAAGTTCTATTTGGCCTTCAGGTATCACCATAGACATCACCTGCTCCAAAAAGCCATTCCTGCCCCCAGGCTGGGCCATGAGCCCTCAGGGACATGCATAACCTTCAGTGTATGTCTTGGCTCCATGAAGACCAAGACCTTTTCTGGCCTTCATTTACGTCTTTAACAGTGCCTTGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGCAGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGTAAAATTAGTCAGGCATGGTGGCGCATGCCTATAGTCTCAGTTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGGGGTTGCAATGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAACAAGACTTTGTCACAAAAAAACAAACAAACAACAACAACAACAAAACCAGTACCTGACACATAAGAGGTGACCAAAGTCTGTTTGTTGATTGAGAAGACGGAGGAACTCTGCTCTTCCACCCTAACAGAAATGTACTTAGTCAGTCCACAGACCCTCACGAGCATCTTCCCTGGGCCAGGTCCCCTGAGATTGAAGAGGTAAATCAGAAAGCATCCCTGACTTTGAGGGACATAGAAGCCAGTAGGGAAGGGAGCAGAATTCTCCTGTTTCAACATGTACAGACAAGTTGCCCAATGCTTTCTCGAAGGTTCCCTCTTTGATACCGATAGCAACCCCTGAGGATTGGGAAAATCGGAGAGGTAAAGGAAACTTCCCAGGCTCACACAGTGAGAAATGACAAAGCTGGAATTTGAACTTAGGCCTGCATGACTCTACGCATACTGCCCCTGTGCTCTGGCAGAGTTGGAATCCAGGGCTTGGCTGTGGGGCTGTGAGGATGAGCTGGAGGCAGGTGGAAGCTTGATTTTTGAGTGTCGCAAATACTGGACTGATGACTCGGAACTTGACTTGGTAGTGGGGGGCAGTGGTAGTCTTGTACAGTTGAGCAGGGTTTGTGTGACCCAGGAGTGCTGGGTCGGTTCAGTTGAACTCCTTGGGACCCGTGGATTAGGTGGCCTCGTAGACAAAATGCCCAAATGCACAGGCCTGCTGGCATCTACCTTGAGCCAACCAGGTGGTGAGAACTCATGCCTCTGCTGCCATCCCAGTCTCCCTGGGGTGTCATTTTCACTCTTCATCCCTCAAGCGGAGAGACTGACGTTGTTACCTAGGCAAAGCAGCCCAGTTTGATTCAGGCCTGCTCTTGACACTGTTTTTCCCCCCTGAAGTGTTTACATGACTAACCTAGGACAGATCCAAGTTAGCCTGCAACAAACTATGGTTGTGGGAAAATATTTGTTTCCTAAAAATAGCACTGAAGTGCCAATCCCCCTAAACAGCTGCAACAGAATGAACTCACCAAACTAGAGAAGAATACGAGGGCGCTGAGTCAGCCAGGAGGCTTCCCCCAGGCTTGACTCAGTGGCGGGCTTGACTCAGCGGCGGGGAAGTAGGCCAAGGGGAN | pathogenic | 149,241 |
Does the variant on chromosome 9 at location 114290319 affecting gene COL27A1 (collagen type XXVII alpha 1 chain) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Steel_syndrome'] | AGTCCTGGTTCCACACCAGCCTGAGTCTGGCTCAGACACACCTACCCTTCCCTCTCTAGTTTGTGTCCCCATCTGTAACCCTAAGCAGGCTAGAATTCATCTCTGACGAAGCGCTTTCCGTCTGGAATTCCCCACATTCCCCAGGAGCAGGCGGTTTGCCCTAAAGCTGGTTCTGTGTCCACAGGGGGAGCAGGGCGAGGACGGCAAGGCTGAGGGGCCCCCTGGGCCACCTGGAGATCGGGTAAGCCCCCTCCCTCCCCTGGACCATGTGGCGTCCTAGGTGGAATCTGAGCCTCCCGCTGCATGGAGAGGGGTGGGCCGATCAGGGGCCAGGTCCCTGAGAGCTCCGCAGAGGTCGCGGCCAACAGGGCCCAGGGCTGGCATCCTTGGCACCTGGTGGCCCAAATTTTGCTGTTGTCTTTGTCATTCAGGGCCCTGTGGGTGATCGAGGAGACCGCGGGGAACCGGGAGACCCTGGGTACCCTGTAAGTATCAGAGCTCCTACCTGCTGGCAGGATCGGGCATGTCAGGGAGAGGGGGGATGACACATGTCTAGAAAGAACAAGAACTTCCCAGGCTTCTGTGCTGCCTCCCAGCCCTCTGCAGGATGGGCCCCCCTCACCTGTCTCTCTTTGGCTTCCAGGGACAGGAGGGTGTGCAAGGCCTCCGTGGAAAGCCAGGCCAGCAGGGCCAACCCGTGAGTGGTGCTTCGTGTCCCATCCCTGCCTCCCACCCTGAGTGGGGCGGAGCAGTGGGAATTAAAGAACTAGGCCCTTTAAAGCTTAAAGGGACCCTCCCTGCAGGAGGGTCTGGGGCAGCCATTTCTGTTTCTCCTGCCCTGACCCTGGGGATGCCCCCAGAACCTGCACCCCCAAACCCCTCCCCACCCCTCCCCCTCCAGGCGGAGACTGGCCACCCTCCCCGGGAGAGAATCCTGGGGCTGCCTTGCGTCATCTCACCTTGGTTTGCAGGGGCATCCGGGACCCCGGGGGTGGCCGGGACCCAAAGGATCGAAAGGCGCAGAGGTAAGAGGGCCGGGGGTTCAGCAGGGAGACTGAGTCCCAGGAAGGGGGAAGCCTGACCCACAGTCACACAGCAAACCAAACGCAGGCTGCAGAGGCTGCGAGGCAGGGTAGGGAGGGGCGGCCCACCAGGAGCCCGGCAGGCTGCTTCTGGCCATGACCCCATCTCCCTTCAAATAGCCTGAGTGAGGAGGGACAATCAGCCCCATTTCACTGGGGCTCCAGGAGGGGAGCCAACTGCCTGAGGCCAACCAGAGTGACTTGAACCCAGGGCTCACCACACTGTAGAGAGAAAACTGGGAGAAGTCAATTGAGGGGGTCTGGAGGAAGAGGAGGCAGAGACAGGGTGCTTGAGCAGGAGCCACTTCCTGCCTCTGCCCCAGGGCCCCTGCCTTCCCCCAGCCCCCAGACTGGGCCAGTGCTCTCTTAATGCTCTTTCCCTCCCCCGGGTGCGCCCCCCTCACCTGCCTGCCTCGGTGATACCTAGTCTCTAAAAGATCCAGTGGAACTGTGGCCTCTGGCTCCTCCCAGAAAATTGTCAATGCCAGTGAGGGGACACCAAGGCCCAGAGCAGGCTCAGTGACAGCCCCAGGAGGTTCCAAGGCCAGCTCTGGCCCCAGGCTTCCAGGCCAGAGTGCTTGGGTACATCTGTGGCATCAGATGTTCACCCAGGGGCCCACAATCCTCTCAGTCCCTCCTTCCAGAGCCCCTAGGGTCCCACACCTCTACCAGGCAGCCTCCATCATGTGGCCCTTGATTTTTCAGGGACCAAAGGGAAAGCAAGGCAAGGCAGGGGCCCCAGGCCGGAGGGGGGTCCAGGTGAGTGACTACAGCTGCTGTTTCCAGCCAACCTCCCTGCCCGCCCCCCACACCCGCCCTCCTCCCACTCCCTGCACCAAATGCCCTCACCAGCTTTTTATGTACCCCCCAGGGCCTGCAGGGGCTGCCAGGGCCCCGGGGCGTGGTGGGGAGACAGGGCCTCGAGGGCATCGCTGGACCAGATGGGCTTCCTGGCAGGGACGGGCAAGCAGGACAGCAGGTGAGCGGGAATTGGCATTAACAGATGGTGGCTCCATTTGGGACCAGGTGTAGGGGAACTTCCCCAGGCCATGGGCCAGAGGAGCCCGTTTGGAAACTTGGATGGGCAGAACCAACACATCCAGAAGTTCTCTGGGGTGGGCAACCATCTCCTCCCCTGGCACCTGGGAGTGTGGACCTTCTGACTGTCTCTCCTGGATGCCAGCACCCAGAAAGACCTTCCTTTCCTCCCCTGCCTGGTGGATAGGGTTCCTCTCCCGCCCCTTCCTCACTCAGAATCCCGCCCTTCCCCACTCACAATCCTCAGCTCCTCCTGTCCTCCTGGTCCAGCCACATCACACACAGGCCGTCTGACCTCCATCCTGGAGTGTGACCCCTTCCTCCAGCTTCACCCAGGGTTTGCCCAGGCGTTGAGCCATCTGCTTCCTTGGCTGTATCGTGAAACACAAGAGACCCTCCTCTGCCTGCTTTCTTAACAGGGGGAGCAGGGAGACGATGGGGACCCTGGCCCCATGGGCCCTGCTGGGAAGAGAGGAAATCCAGGTGTGGCCGGCTTACCTGGAGCACAGGGACCCCCAGGATTCAAGGTCAGATACCTCTTAATACACTTACCCACCCTCTGCCCTTTCTGCCTTGATGCAGACTCTAGTGGTTCCGACCCTTTGGGCACCCATGTCCCAGGGCCTGTGTGAAAATGGAGTCCACATTGTTGACCTTTCTCCGTCAGCAGTGCTTGGGGGTCCTGCCCCAAGCTTGAACCAGAATGATAGTTCATCTGGGGAGCTGTAAATATCGCCCCTACCAGGCCCTTGAAACCTTCAACTGGTTTTTGAGTTGTCCACGGGCGCCCTCTCGTGGACATTTGTGGAACAACACGTTGCTTGCAGCCGGGATCCCCAAGGCATCCTTAGAAAGCTTCCCAGTGCCGCGTGGGAGGAGGGGGCCCCCATGAATCCGTCAGAGCCAAGGGCTGGACACTGAAGGGGAGATGTAGATGAATGACTCAGATGTGGTTCTTGCCCTCTCTGAGCTCGAGGTTTAATTGGGGGAAAGATTGGAACCCTCTGAGACACAGGAGGCGGAGGGAGCGATGGCCTTGACCCAGGGAAGATGTGAATGAGAATAGAAGGGGAAAAGGTGGCCACACAGTGGCTCACACCTGTAATCCCAGCATTTTGGAGGCTGAGGCTGGCGAATCACTTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGGGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGCACCTGTAGTCCCAGCCACTCGGGAGGCCGAGGCAGGAGAATCGCTTGAATTGGGGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCACTGCACTCCAGCCTGGGCGGCAGAGCGAGACTCTGTCTAAAAAAATAAAAATAAATAAATAAATGGGGAGGAGGCATTCTACGAGTGTGAGCTGAGGTTTGAAGGAGGGAACTGCATGCTGTTGGGGAAAAGCAATAAGGAGGAGAGGAATTGTGGGAGAGGAGAGGGGAAGGCAGGGCCCGGAATGCGAGAGGAGAGACAGAGACCTTCCTCTTTGGGAGGTGAAAGTCTTGTCACCCCTACCCCACCAGGCCTCCATTTGTTGCCCCAGCATTCTGCAATCTCGGGTACCCTGTGGAATCACTGTTCTGGCTCTCCCAGGCCCCCTCCGCCTCCTCCTGCCTTAGAACCCCTTCCCACTTTGACTGGTAATTTTTTGTGTGTTTCTTTAAGGGTGAGAGTGGGTTACCCGGACAGCTGGGTCCCCCTGGCAAGCGAGGAACAGAGGGCAGAACGGGGCTCCCTGGAAACCAGGGGGAGCCTGGGTCCAAAGGCCAGCCGGTGAGTGAGCGCCAAAGAATACACATGCCCACGCACTCACACATGCACACACTCACATACACCTACATGTACAAACACATGCACACTCATACACACACACAAACACACTGACCCAGAAGCCACCTCCTTGCTCTGTGACAAGGTATAAAATCTGGG | AGTCCTGGTTCCACACCAGCCTGAGTCTGGCTCAGACACACCTACCCTTCCCTCTCTAGTTTGTGTCCCCATCTGTAACCCTAAGCAGGCTAGAATTCATCTCTGACGAAGCGCTTTCCGTCTGGAATTCCCCACATTCCCCAGGAGCAGGCGGTTTGCCCTAAAGCTGGTTCTGTGTCCACAGGGGGAGCAGGGCGAGGACGGCAAGGCTGAGGGGCCCCCTGGGCCACCTGGAGATCGGGTAAGCCCCCTCCCTCCCCTGGACCATGTGGCGTCCTAGGTGGAATCTGAGCCTCCCGCTGCATGGAGAGGGGTGGGCCGATCAGGGGCCAGGTCCCTGAGAGCTCCGCAGAGGTCGCGGCCAACAGGGCCCAGGGCTGGCATCCTTGGCACCTGGTGGCCCAAATTTTGCTGTTGTCTTTGTCATTCAGGGCCCTGTGGGTGATCGAGGAGACCGCGGGGAACCGGGAGACCCTGGGTACCCTGTAAGTATCAGAGCTCCTACCTGCTGGCAGGATCGGGCATGTCAGGGAGAGGGGGGATGACACATGTCTAGAAAGAACAAGAACTTCCCAGGCTTCTGTGCTGCCTCCCAGCCCTCTGCAGGATGGGCCCCCCTCACCTGTCTCTCTTTGGCTTCCAGGGACAGGAGGGTGTGCAAGGCCTCCGTGGAAAGCCAGGCCAGCAGGGCCAACCCGTGAGTGGTGCTTCGTGTCCCATCCCTGCCTCCCACCCTGAGTGGGGCGGAGCAGTGGGAATTAAAGAACTAGGCCCTTTAAAGCTTAAAGGGACCCTCCCTGCAGGAGGGTCTGGGGCAGCCATTTCTGTTTCTCCTGCCCTGACCCTGGGGATGCCCCCAGAACCTGCACCCCCAAACCCCTCCCCACCCCTCCCCCTCCAGGCGGAGACTGGCCACCCTCCCCGGGAGAGAATCCTGGGGCTGCCTTGCGTCATCTCACCTTGGTTTGCAGGGGCATCCGGGACCCCGGGGGTGGCCGGGACCCAAAGGATCGAAAGGCGCAGAGGTAAGAGGGCCGGGGGTTCAGCAGGGAGACTGAGTCCCAGGAAGGGGGAAGCCTGACCCACAGTCACACAGCAAACCAAACGCAGGCTGCAGAGGCTGCGAGGCAGGGTAGGGAGGGGCGGCCCACCAGGAGCCCGGCAGGCTGCTTCTGGCCATGACCCCATCTCCCTTCAAATAGCCTGAGTGAGGAGGGACAATCAGCCCCATTTCACTGGGGCTCCAGGAGGGGAGCCAACTGCCTGAGGCCAACCAGAGTGACTTGAACCCAGGGCTCACCACACTGTAGAGAGAAAACTGGGAGAAGTCAATTGAGGGGGTCTGGAGGAAGAGGAGGCAGAGACAGGGTGCTTGAGCAGGAGCCACTTCCTGCCTCTGCCCCAGGGCCCCTGCCTTCCCCCAGCCCCCAGACTGGGCCAGTGCTCTCTTAATGCTCTTTCCCTCCCCCGGGTGCGCCCCCCTCACCTGCCTGCCTCGGTGATACCTAGTCTCTAAAAGATCCAGTGGAACTGTGGCCTCTGGCTCCTCCCAGAAAATTGTCAATGCCAGTGAGGGGACACCAAGGCCCAGAGCAGGCTCAGTGACAGCCCCAGGAGGTTCCAAGGCCAGCTCTGGCCCCAGGCTTCCAGGCCAGAGTGCTTGGGTACATCTGTGGCATCAGATGTTCACCCAGGGGCCCACAATCCTCTCAGTCCCTCCTTCCAGAGCCCCTAGGGTCCCACACCTCTACCAGGCAGCCTCCATCATGTGGCCCTTGATTTTTCAGGGACCAAAGGGAAAGCAAGGCAAGGCAGGGGCCCCAGGCCGGAGGGGGGTCCAGGTGAGTGACTACAGCTGCTGTTTCCAGCCAACCTCCCTGCCCGCCCCCCACACCCGCCCTCCTCCCACTCCCTGCACCAAATGCCCTCACCAGCTTTTTATGTACCCCCCAGGGCCTGCAGGGGCTGCCAGGGCCCCGGGGCGTGGTGGGGAGACAGGGCCTCGAGGGCATCGCTGGACCAGATGGGCTTCCTGGCAGGGACGGGCAAGGCAGGACAGCAGGTGAGCGGGAATTGGCATTAACAGATGGTGGCTCCATTTGGGACCAGGTGTAGGGGAACTTCCCCAGGCCATGGGCCAGAGGAGCCCGTTTGGAAACTTGGATGGGCAGAACCAACACATCCAGAAGTTCTCTGGGGTGGGCAACCATCTCCTCCCCTGGCACCTGGGAGTGTGGACCTTCTGACTGTCTCTCCTGGATGCCAGCACCCAGAAAGACCTTCCTTTCCTCCCCTGCCTGGTGGATAGGGTTCCTCTCCCGCCCCTTCCTCACTCAGAATCCCGCCCTTCCCCACTCACAATCCTCAGCTCCTCCTGTCCTCCTGGTCCAGCCACATCACACACAGGCCGTCTGACCTCCATCCTGGAGTGTGACCCCTTCCTCCAGCTTCACCCAGGGTTTGCCCAGGCGTTGAGCCATCTGCTTCCTTGGCTGTATCGTGAAACACAAGAGACCCTCCTCTGCCTGCTTTCTTAACAGGGGGAGCAGGGAGACGATGGGGACCCTGGCCCCATGGGCCCTGCTGGGAAGAGAGGAAATCCAGGTGTGGCCGGCTTACCTGGAGCACAGGGACCCCCAGGATTCAAGGTCAGATACCTCTTAATACACTTACCCACCCTCTGCCCTTTCTGCCTTGATGCAGACTCTAGTGGTTCCGACCCTTTGGGCACCCATGTCCCAGGGCCTGTGTGAAAATGGAGTCCACATTGTTGACCTTTCTCCGTCAGCAGTGCTTGGGGGTCCTGCCCCAAGCTTGAACCAGAATGATAGTTCATCTGGGGAGCTGTAAATATCGCCCCTACCAGGCCCTTGAAACCTTCAACTGGTTTTTGAGTTGTCCACGGGCGCCCTCTCGTGGACATTTGTGGAACAACACGTTGCTTGCAGCCGGGATCCCCAAGGCATCCTTAGAAAGCTTCCCAGTGCCGCGTGGGAGGAGGGGGCCCCCATGAATCCGTCAGAGCCAAGGGCTGGACACTGAAGGGGAGATGTAGATGAATGACTCAGATGTGGTTCTTGCCCTCTCTGAGCTCGAGGTTTAATTGGGGGAAAGATTGGAACCCTCTGAGACACAGGAGGCGGAGGGAGCGATGGCCTTGACCCAGGGAAGATGTGAATGAGAATAGAAGGGGAAAAGGTGGCCACACAGTGGCTCACACCTGTAATCCCAGCATTTTGGAGGCTGAGGCTGGCGAATCACTTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGGGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGCACCTGTAGTCCCAGCCACTCGGGAGGCCGAGGCAGGAGAATCGCTTGAATTGGGGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCACTGCACTCCAGCCTGGGCGGCAGAGCGAGACTCTGTCTAAAAAAATAAAAATAAATAAATAAATGGGGAGGAGGCATTCTACGAGTGTGAGCTGAGGTTTGAAGGAGGGAACTGCATGCTGTTGGGGAAAAGCAATAAGGAGGAGAGGAATTGTGGGAGAGGAGAGGGGAAGGCAGGGCCCGGAATGCGAGAGGAGAGACAGAGACCTTCCTCTTTGGGAGGTGAAAGTCTTGTCACCCCTACCCCACCAGGCCTCCATTTGTTGCCCCAGCATTCTGCAATCTCGGGTACCCTGTGGAATCACTGTTCTGGCTCTCCCAGGCCCCCTCCGCCTCCTCCTGCCTTAGAACCCCTTCCCACTTTGACTGGTAATTTTTTGTGTGTTTCTTTAAGGGTGAGAGTGGGTTACCCGGACAGCTGGGTCCCCCTGGCAAGCGAGGAACAGAGGGCAGAACGGGGCTCCCTGGAAACCAGGGGGAGCCTGGGTCCAAAGGCCAGCCGGTGAGTGAGCGCCAAAGAATACACATGCCCACGCACTCACACATGCACACACTCACATACACCTACATGTACAAACACATGCACACTCATACACACACACAAACACACTGACCCAGAAGCCACCTCCTTGCTCTGTGACAAGGTATAAAATCTGG | pathogenic | 149,265 |
Considering the genetic mutation at chromosome 9, position 114466373, impacting WHRN (whirlin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_31', 'Usher_syndrome_type_2D'] | GGGTGGCTTATAAGCAACAGAAATTTACATCTCACAGTTTTGGAGGTTGGAAGTCCAAGATCAAGACGCCAGCAGGTTCAGTGTCTGGTGAGGGCCCACTTCCTGGTTCATAGACTGTGCCTTCTTACTGTGTCCTCACATGGTGGAAGGGGCGAGGCAGTTCTTGGAGCCTCTTTTATAAGGGCACTAATCCCATTCGTGGGGCTCCACCCTCATGACCTAATCATCTCCCAAAGGCCCCACCTCCTAATACTATCAGCTTGTGGGTAAGGATTTCAATACATGAATTTTGGAGGAACACAATCTGTGGCAATGTTTACTATAATAATAAGAATTCCCCATTTGATCTTTGCAATAACCCTGAGAAAGGAATGTTACCTATTATTATTATATAGTAAAGGGAAGCAAGGTTAAACAAGTTAATGATGTAAAACACTTGGAAGAGTAACTGGGAAAGGGGAGATATGGTAGATGTTAATGATTATGTCCATAATGATGATGATGATGATGATGATGATGATGATGATGATGATGATGATGATGTCGTCTGTCTGTCCCTTTGGGCTGCTATAACAAAGTACCATAGACTAGGTAGCTTATAAACAACAGAAATTTATGTCTCACAGTTTTAGAGGCTGGGAAATCAAAGATCAAGATGCCAGCAGGTTCAGTGTTTGGTGAGGGCTTACGTAGTGTTATTATACAGGAAAGGGAAGCCCAGACAGGTGGAGGGACTCTCCAAGATCACACAGCTATGAAAGCAAAAGCAGCAAAACTGGGACTTGAACCTAGTCTTCCCTACTGCAAACCCAGAGCTCTTCCCACAATGCCTGTTTCCTAAGAGAACCTGACAGACGTATCGTCTCTGTACTCCAGCCTGTCTGCCATGATGTGGCTTGGTGGCCACATGTGACCTTTTCTTCTTGTCTGCATGGAAAATGAAATCTCCTGATATTAGGGCATGCAAGGAAGGCCCTTTGTTACAAAGATACAACCTCATCATGTGCTTCATTCCCCTGGCTTTGCACACAGACTAGGCATCCATCTAGTCAGTCACCAACAGTCAGACACGCATGGTCCTTTGGCCAGCCACTCCCATCCTTCCCCTTTACCCATCCCTCTCTCTCACACTCCCCATGGCCTGGCTCAAAGGCCACCTGTGCCATGGTCACCACTCCACATCACTGCTGCTGTGGCATCCCTGGCATCAGGATTTAGCCCAAACACATGGTGCTCTTTAATTTGGTGATGGGTGTCCTGGGTCCAGCATCCTCGTGAGCAGTCTTGTCTCTCTGAGCAAGTTCCCGGGCTACCCTGCAGCGTGCTAAGTGAGGGTTTTGAAATTCAGACTGCCTAAGTTCAAAGTCTGCTCTGCAACCCACCAGTTGTGTGGCCTGGGACAAGTCAGTTTAACCTATGTCTCAGTTTCCCCAACTGGAAAATGTGGGTAGTAATACCCTACCCCTCAGGGTCACGTGAGGAGTCAACTAGATGACATGTGAAAAGTAGATCACAGACGCTGGGCACACAGTTAGCCCTCTTTAAAATGGGAGCCAGTAATATTTCAATAACTGCTGGTTGTCTGGATTGAATGCCAGGCCTGAAGCTGCCCAGGGCACCCCCAACCCAGCTTATCACTTTCTCTCCTCTATCCTCTCCACGCATCGTAACAAACCCTGAGGTCAGGGCCACCACAGGCCATCAGCAGTGTTTGCAAAACAGCAGCACGACAAGTTCGGGCTGGCCTGCTGCCCACACTGCGTAGGCGGCCACCCCGCTGCTGCTGTGAGCTGTGAATTTAGAGGTACAGCAGCCAGGGAGGGCTCCCCAGCTGGGACCAGTCCTCAAGGTGGAGTGCTGATTGCTCTGCTGGAGGTCTATTTAAAATCAGCAGCAAAGAGCTCCATGCACAGAGTTTTCCCTCCCTCAGGCCCTCCCTCACCTTGAGCCCGCTGCCTTCTGCTTCAGAGCCTGGGTCCACGCCAGTGATGTAAATGCCAAGGCCGTACTCAGCTCCCCCACGGATCGTGAGGCCCAGGGACCGGCCGTCCCCCAGCACCAGGTTCACCTGTCAGAGGGAGAGGATAACATTAGAGGGACTGGAGGAGCCATCCCTTCCGGGGACAGCAGGCTGCAAAGCCCCCTCTCGTACTTTGAAGAGCGCATCTTATCCGACTGGCAAGGAGGCCCAGGCCAAGGCCTGGAAGATACCCTAGAACATTCCAGTTCCTGCCCCAGCTCTGCCTCTGACTTGATGGGTGACCTTGAGGAAGCCCCTCACCCCCTCTTGGTCACAGCTGCAAGTGTAGTGGGGGGAAGGTGCTGAGGGAGATGGCCTCCGGGATCCCCTCAGGGCCAACACCCGGGACTACTCAGACACTTTGCTCATGCTCTTCACGCCACAGTGGCCACGTTCACCTGAGGCTTCAGTCGGGGGGTGACTGTTCGCGCCCCGGGGTCTCAATTAGGCTCCATCTGCCCTCCTTAGGATCAAGGCTCAGGCCAGGTCACGGCAGCCACCACCCTGCTTCCCCAGGGGTCTCCTGTCACCTCAGGGGTCTCCCGTCACCTCAGGGGTCTGCCTCCCCAGGGGTCTCCTATCATCTCAGGGGTCTCCTGTCACCTCAGGGTCTCCTGTCTCCCCAAGGGTCTCCTGCCTCCCCAGAGTTCTCCTGTCACCCCAGGGGTCTCCTGTCACCTCAGGGGTATCCTGTCACCCCAGGGATCTCTTATCACCTCAGGGGTCTCCTGTCACCTAAGGGTCTCCTGTCACTTCAGGAGTCTCCTATTTCTCCTGGGGTCTCCTGCCTCCCCAGGGGTCTCCTATCACCTGGGGGGGTCTATTTCTCCTGACGTCTGCTGTCTCCCCAGGGGTCTTCTGCTCTGCCATCCATCCTGAGGGACCATGATGGTCCCTGGCTCTACATACATAGGGTGCACCCACTAAATGCAGTCCCGGTGCTGGGGCTTGGAGATGAGACAGACACAGTCCTGCTCCTGAGGGGCCCGCAGTCTAGTGGTACAGACAGTCAACAGGCCTTCACGGTACAGTGTGAGCAGCGCGTGACAAAGTGGCTCGAGGGCCACATGGGTACAGAGAAGGGGCAATGGTCCTGACTGGCGTGGGGGGGTGCTTCCTGGAGAAAGTGGCATCTCTGATGAGACGGGAGGGTGAGCGAGAGTCAGCCGGCGGGGGGGAAGGGAAAATGGAACATTCCAGAATATGGGACGGCTCAAGTCAGTGCTCAGGAGAGCAAGTCCCGCCCGGGAGGAGGTGAGTCGCAGTGGCCACAGCAGGTGCTGGGGGACAGGGTGGGGCTCACAAGGACACGCAAGGGGTGGCTGCGGGCAGATTCTAGAACGGTTCCTAATCCATGAGGGAAGCTGCAGGAACATGCAGGTTAAGTGTGTCTCCGGTATGAAAGAGGGATTCATGGAAAAGAAAGCAGGGGACCAGAATAGCTGAAACCTAGCCCAAAGAGACGAGAAACACCTGGCCACAAGACCCAGTGACAGGTAAGGGATCCAAAGAGAGCACAGTGTGACTGCCCACGGGACAGGGAGCGGTGGGAGAACCTTCAGGCACCAGGAAAGACACATTTCATTAGGGAAAGCCATCCAACCAGATTTCTATTTCGGAAGTTATTCGTCCAAGAGTTATCAAGTGTTCTGTGCCCTTTAAATGTGTTATCTCATTGAATTCTTCAACCACCTTGGGCAGAGGTGGTGAACAAGAGAGACTCAAGTCCCAGCTTCCCAGGGGAGGGCACAGCTGTGTGACCTTGAGCAAGTTACTTAACCTCTCTGTGCCTCAGCCTCCTCACCTGAAAATGAGGACAATAATATCTGCCTGTCTTATAAGGTTACCATGAAGAAGATCAAATTAAGAGACAAGTGAGAGCATGTGGCCACTCTCTGGCCCCTAGCAGATGCTCAGTAAGTATGAGCTACTGTTGGTTCTGTTGCACACATGACAAGTCTTGTTGGGAAACCTGACAATGTCACACAGTCGCAGCCAACTCATGGCCAAGTCAGACCTGGGTTCTGCCCACCTCTGGAACTCTGAACTCTTTAATTTGCTGCTTCTCTCTGGGAC | GGGTGGCTTATAAGCAACAGAAATTTACATCTCACAGTTTTGGAGGTTGGAAGTCCAAGATCAAGACGCCAGCAGGTTCAGTGTCTGGTGAGGGCCCACTTCCTGGTTCATAGACTGTGCCTTCTTACTGTGTCCTCACATGGTGGAAGGGGCGAGGCAGTTCTTGGAGCCTCTTTTATAAGGGCACTAATCCCATTCGTGGGGCTCCACCCTCATGACCTAATCATCTCCCAAAGGCCCCACCTCCTAATACTATCAGCTTGTGGGTAAGGATTTCAATACATGAATTTTGGAGGAACACAATCTGTGGCAATGTTTACTATAATAATAAGAATTCCCCATTTGATCTTTGCAATAACCCTGAGAAAGGAATGTTACCTATTATTATTATATAGTAAAGGGAAGCAAGGTTAAACAAGTTAATGATGTAAAACACTTGGAAGAGTAACTGGGAAAGGGGAGATATGGTAGATGTTAATGATTATGTCCATAATGATGATGATGATGATGATGATGATGATGATGATGATGATGATGATGATGTCGTCTGTCTGTCCCTTTGGGCTGCTATAACAAAGTACCATAGACTAGGTAGCTTATAAACAACAGAAATTTATGTCTCACAGTTTTAGAGGCTGGGAAATCAAAGATCAAGATGCCAGCAGGTTCAGTGTTTGGTGAGGGCTTACGTAGTGTTATTATACAGGAAAGGGAAGCCCAGACAGGTGGAGGGACTCTCCAAGATCACACAGCTATGAAAGCAAAAGCAGCAAAACTGGGACTTGAACCTAGTCTTCCCTACTGCAAACCCAGAGCTCTTCCCACAATGCCTGTTTCCTAAGAGAACCTGACAGACGTATCGTCTCTGTACTCCAGCCTGTCTGCCATGATGTGGCTTGGTGGCCACATGTGACCTTTTCTTCTTGTCTGCATGGAAAATGAAATCTCCTGATATTAGGGCATGCAAGGAAGGCCCTTTGTTACAAAGATACAACCTCATCATGTGCTTCATTCCCCTGGCTTTGCACACAGACTAGGCATCCATCTAGTCAGTCACCAACAGTCAGACACGCATGGTCCTTTGGCCAGCCACTCCCATCCTTCCCCTTTACCCATCCCTCTCTCTCACACTCCCCATGGCCTGGCTCAAAGGCCACCTGTGCCATGGTCACCACTCCACATCACTGCTGCTGTGGCATCCCTGGCATCAGGATTTAGCCCAAACACATGGTGCTCTTTAATTTGGTGATGGGTGTCCTGGGTCCAGCATCCTCGTGAGCAGTCTTGTCTCTCTGAGCAAGTTCCCGGGCTACCCTGCAGCGTGCTAAGTGAGGGTTTTGAAATTCAGACTGCCTAAGTTCAAAGTCTGCTCTGCAACCCACCAGTTGTGTGGCCTGGGACAAGTCAGTTTAACCTATGTCTCAGTTTCCCCAACTGGAAAATGTGGGTAGTAATACCCTACCCCTCAGGGTCACGTGAGGAGTCAACTAGATGACATGTGAAAAGTAGATCACAGACGCTGGGCACACAGTTAGCCCTCTTTAAAATGGGAGCCAGTAATATTTCAATAACTGCTGGTTGTCTGGATTGAATGCCAGGCCTGAAGCTGCCCAGGGCACCCCCAACCCAGCTTATCACTTTCTCTCCTCTATCCTCTCCACGCATCGTAACAAACCCTGAGGTCAGGGCCACCACAGGCCATCAGCAGTGTTTGCAAAACAGCAGCACGACAAGTTCGGGCTGGCCTGCTGCCCACACTGCGTAGGCGGCCACCCCGCTGCTGCTGTGAGCTGTGAATTTAGAGGTACAGCAGCCAGGGAGGGCTCCCCAGCTGGGACCAGTCCTCAAGGTGGAGTGCTGATTGCTCTGCTGGAGGTCTATTTAAAATCAGCAGCAAAGAGCTCCATGCACAGAGTTTTCCCTCCCTCAGGCCCTCCCTCACCTTGAGCCCGCTGCCTTCTGCTTCAGAGCCTGGGTCCACGCCAGTGATGTAAATGCCAAGGCCGTACTCAGCTCCCCCACGGATCGTGAGGCCCAGGGACCGGCCGTCCCCCCAGCACCAGGTTCACCTGTCAGAGGGAGAGGATAACATTAGAGGGACTGGAGGAGCCATCCCTTCCGGGGACAGCAGGCTGCAAAGCCCCCTCTCGTACTTTGAAGAGCGCATCTTATCCGACTGGCAAGGAGGCCCAGGCCAAGGCCTGGAAGATACCCTAGAACATTCCAGTTCCTGCCCCAGCTCTGCCTCTGACTTGATGGGTGACCTTGAGGAAGCCCCTCACCCCCTCTTGGTCACAGCTGCAAGTGTAGTGGGGGGAAGGTGCTGAGGGAGATGGCCTCCGGGATCCCCTCAGGGCCAACACCCGGGACTACTCAGACACTTTGCTCATGCTCTTCACGCCACAGTGGCCACGTTCACCTGAGGCTTCAGTCGGGGGGTGACTGTTCGCGCCCCGGGGTCTCAATTAGGCTCCATCTGCCCTCCTTAGGATCAAGGCTCAGGCCAGGTCACGGCAGCCACCACCCTGCTTCCCCAGGGGTCTCCTGTCACCTCAGGGGTCTCCCGTCACCTCAGGGGTCTGCCTCCCCAGGGGTCTCCTATCATCTCAGGGGTCTCCTGTCACCTCAGGGTCTCCTGTCTCCCCAAGGGTCTCCTGCCTCCCCAGAGTTCTCCTGTCACCCCAGGGGTCTCCTGTCACCTCAGGGGTATCCTGTCACCCCAGGGATCTCTTATCACCTCAGGGGTCTCCTGTCACCTAAGGGTCTCCTGTCACTTCAGGAGTCTCCTATTTCTCCTGGGGTCTCCTGCCTCCCCAGGGGTCTCCTATCACCTGGGGGGGTCTATTTCTCCTGACGTCTGCTGTCTCCCCAGGGGTCTTCTGCTCTGCCATCCATCCTGAGGGACCATGATGGTCCCTGGCTCTACATACATAGGGTGCACCCACTAAATGCAGTCCCGGTGCTGGGGCTTGGAGATGAGACAGACACAGTCCTGCTCCTGAGGGGCCCGCAGTCTAGTGGTACAGACAGTCAACAGGCCTTCACGGTACAGTGTGAGCAGCGCGTGACAAAGTGGCTCGAGGGCCACATGGGTACAGAGAAGGGGCAATGGTCCTGACTGGCGTGGGGGGGTGCTTCCTGGAGAAAGTGGCATCTCTGATGAGACGGGAGGGTGAGCGAGAGTCAGCCGGCGGGGGGGAAGGGAAAATGGAACATTCCAGAATATGGGACGGCTCAAGTCAGTGCTCAGGAGAGCAAGTCCCGCCCGGGAGGAGGTGAGTCGCAGTGGCCACAGCAGGTGCTGGGGGACAGGGTGGGGCTCACAAGGACACGCAAGGGGTGGCTGCGGGCAGATTCTAGAACGGTTCCTAATCCATGAGGGAAGCTGCAGGAACATGCAGGTTAAGTGTGTCTCCGGTATGAAAGAGGGATTCATGGAAAAGAAAGCAGGGGACCAGAATAGCTGAAACCTAGCCCAAAGAGACGAGAAACACCTGGCCACAAGACCCAGTGACAGGTAAGGGATCCAAAGAGAGCACAGTGTGACTGCCCACGGGACAGGGAGCGGTGGGAGAACCTTCAGGCACCAGGAAAGACACATTTCATTAGGGAAAGCCATCCAACCAGATTTCTATTTCGGAAGTTATTCGTCCAAGAGTTATCAAGTGTTCTGTGCCCTTTAAATGTGTTATCTCATTGAATTCTTCAACCACCTTGGGCAGAGGTGGTGAACAAGAGAGACTCAAGTCCCAGCTTCCCAGGGGAGGGCACAGCTGTGTGACCTTGAGCAAGTTACTTAACCTCTCTGTGCCTCAGCCTCCTCACCTGAAAATGAGGACAATAATATCTGCCTGTCTTATAAGGTTACCATGAAGAAGATCAAATTAAGAGACAAGTGAGAGCATGTGGCCACTCTCTGGCCCCTAGCAGATGCTCAGTAAGTATGAGCTACTGTTGGTTCTGTTGCACACATGACAAGTCTTGTTGGGAAACCTGACAATGTCACACAGTCGCAGCCAACTCATGGCCAAGTCAGACCTGGGTTCTGCCCACCTCTGGAACTCTGAACTCTTTAATTTGCTGCTTCTCTCTGGGA | pathogenic | 149,349 |
A genetic alteration at chromosome 9, position 114505401, in gene WHRN (whirlin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GAAAAATGCCTGCAAAGGATCCATGAATCCACCCTGGACCCAACACTATCCATCATACTCCAACTGGTTTTCAGTAGCCCTGGGCTGTAGATCAGTAAGCACACACACTCCTTTAAAAAGCATGATTAAATCCCTGGAAGCCTGTTGTCATGAGGTTATATTTCTCAATTAACAAATGGCAGAAAGGACAAACACTCTCAGGGGCTAGGGAATTTATTTTTTACATTCAGGCAGGAGTCTCATTTCCAAAAAGGTTAGGGACCGCTTATTTGGTCCAGTGGCCCCATTTTCCAAGTGGAGAACAAGAGGTCCTGAGAGGGCAAGTGACTTGCTTCAGGATACACAACCTGGTCCAAAAACAGCAGCGTCAAGCCAGTGCACTGTGGATCACACAAACGGCCTCCTCAGGCCACTTAAGAGCTAACAAAACTGTTTCAGGGAAAAACAAAAAACAAAAAACCACAGAATGGCAGTAGCAAAGGCCACCTAATTATGCCAAGCAGAGATTTTATCTCTTTTAATGCTCATAAGAATCCACAGCCCTATTCACACATTGTAACCACACATTTGCTCAAGTATTTGTTACTATCACCTGCACTAGCTTTTAAGCCTCACAAAGGCAAGGGCCATGTCTGTGCAGAACTACGTTCCCAGTGCCTGAGAGCTATTTGCTCTGTAAGCTATACATTCCTGTTTTAAAGTATTAAAAAAAAAAAAAAAGCCCAGAAAGGCCAAGTGATTCATCTAAGGACACACAGCATGGAGTTACTGAAAAAGCTGTGCCACTCTGTCCATACTCTGCCCCAGACTCTCTCCAAACCACAGCCTTACCTTGACGGCCTCCGCGTGGGTCACCCGGGCCAGGGATTTGTCGTTGACGCGCAGAATCTGGTCCCCGACCCGCAGTCCTTCCTTCTCAGCTAGAGAGCCTGGTTCCACCAGAGACACGTAGATGCCCACGCCGTGCTCCGAGCCCCCACGGATGCTGAAGCCCAAGCCCTCGTGGGCCTTGGCACGCCGCAAACTCACCAGGCGCACCTCCCCTGGCCCCGCGCTGTCGGGGCCGCCCCAGGCGGGCTGCCTGTAGGGGGTGGTGGCGGGCAGGTAGAGGCCCTCGGCCGTGTATTGGTCGAAGAGCAGCTGGTCGGAGCGCGGGATGACCAGACGAAGCATGGGCAGCAGGCGCCGCTTGACCGGACTGTCCAGCAGCACGCGCAGGGTGCGCACCAGGTCGAAGACGTTGCGGCGCGCGTGGTAAGCGTTCAGGCAGTGGGTGAACTGCTCCCGCTCCGCCTCGCTCAGCAGCGCGGTCAGCGCTTGGTGCAGCTGGCGCACGTTGGCAGACAGTAACCGCAGCCCCGCGCCCCCGCCGCCGCCCGCCCCGGCCGCCGAGCCCAGCGAGCCGGTGGAGGACGAGCTCACCGACAGGCCGTCCAGCGGCGCGTTCATCTCCACGCCGAGGCCCGGCCGGGCTCTGAGCGCGCGGGGTGTGGGCGGTGCCGCTGTCCTCGCGGGTACTGGCGCGACAGCTGGATCCCCGGGAGCGCGGAGACGACGGCTGGAGCCTGGGTTTGGGGAGCACGGGTACAGTGGCTGGATCCTAGGGGGTCGCGGAGACCGCTGCTAGAGTCCCGGAGGCGCGAAGACGGCGGGGGTCGCGAACCTGGAATCCGGGGGACGCGGAGACGTCGGCGGGTTCCTGAGAGACACAAGAGTTGGCTGCTGGAGCCCGGAGGTGGCGGAGACTGCTGCTGGAGTCCGGGGGGCGCGGGGTCAGCAGCTACATTCTGGAGGGCACGGAGACGACGGGTGGCTGGAGTTTGGGGGCGCCGCAAAGCTGACCTGACTGCCCCGTCACACCATGCCCGGGGCTCCCCCAGCCGGGCGCCCGTTCCTCTAGGGCTGGGGGACCCCAAAGTCAGAAGTTGGGGCGGAGGGCGCTCTAGTCCCAGAGCACTCCGGGGAGTGGCAGCCGGTGAAGCGGCGCGGGCGTCCGACAAGGGGTGCGGGGCATGTCCGGGGCAGCCCCGGGATGCAGCCGCCCGGGGAGCCTCCGCGCCTCTGCGCCGCCCGGCCGCAAGCCCGGACTTTGCGAACTGTTGAGCCACCCGGGCCGAGTCTTCCAGCGAGTTCCGACGCCGTCTCGTTGCCAGCCCGGCCCGGGCCCCGCCCCCTCGTCCCTCCTCCTGCCCGCCCCCTCCCCACGGGCTCCTCAGGAAATGACGTCCCGCCCGGTGCGCCTGGCCGTTGCCTGGAGACGGGGTGAAACAGTCCAGCCCCAGGGAAGAAAGGGGTGAACGCGGCGGTAGGGGTGGGAGGAGCCCCCGCGTCCCCTACCCCGCCGGCAGAGCCGGGAGCGGGGCTCAGAAACAGCGCTCTTCGGCGGTCGCAGCGAGTGCCGACACCAGGATCGCTTTGGAGTAATTAGCCGGCTAGCTAATTCACAATTCGGGGGGAAATCGTCAAGTTTTTTGTTTGTTTGATTTTTGCTTCCAAAATACTGGGCACTTCAGTCTCGGTTTTCTTCCTTACAATGTGGCGCTCCCCTCCTGCACGCGCCCTGACATGACAAATTCCAGGGTTTATGTGGACGGTCGTTGGCCACCTACTGTGTGCGAGAGACGAATACAAGCATAGACTGCTGTCTGCCGGAGTCAACTCCGTGGCAGGGATGGATCAGGCTGGACCCCTTCCCAGTCTCCATTGCAAGGGAAAAGCCACTTTCAGAAATATTATATAAAGTGTACACCCCACGCTCGCGCACACACGTACAAATGAGCGCATATAAAACTGGTGAAATCTGAGTAAGGTGGGTGGATTTTATCAATGTCAATGTCCTGGTTGCCATCGTGTCAACATCGGGGGAAACTGGGTGAAGGGTACATGGCATGTCTATGTATTATTTCTTAGAACTGCATTTGGATCTACAATCTCAAAATAGAAATTAAAAATATACATATTTGAAGTGGCTTGGAGAAAAATCTCTTCTATGCTCTCCCATCCCTAGGCAAAATGGGAAGATACACCCAGGTGTGCCCTGGAGTCGGTCGTCACCCACCCAATCCCCCAAATAAGATTTAAGTAAAATCCTGTGCTTTTATTCTAATGGGGAGCTTCATAGTGCTACACACACACACACACACATACACACACACACCCTACCTCACACACATCCCTTCCAACCTGAGCTGCCTCTCCTAAGCTACTCTTCTATGTATTTTTCGTAAAAGTCTTCCAGAATTTCCATTGCAGAGCCAGCTGACATCTATCCAGGGTAGGGCAAGATGGAGGATTACCTGGAGGATTTGGTTTGTGGTGGACCCAGAAGGATAGATCATTCATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTGGTCGCTTTTCATTCAACGTTTTTGAAGCATCTGCTCTGTGCTGGGTCATGTGCTGGGTGCTGGAGACCCAGGGGAGAAAGATCAAATAAATAGAGTTAAAAACCAGTGTGATACCTGTTGTAATGGCGAGGGAGCCCAGGTTTAGGAGAGGAGAATATGGTAAGGACTTTACTGAAGAGGCGACACCTGAATGAAGAACCTGTAAGGAAAACGGACTTTCTCCTCTAGACAATGGGGAAGAGTGGAAAGGTTTTCAACACTGCTGACTTAATGCATTGAGGCTAGGAATGGAAGCTGTGTTTTCCCTAAAGATCTTCAATTCTTTACTTCCCTAAAACAGACATAGGTTAAATTAATGCCCAATAAACATATTTAACAGTGTGTCTGAGGAAGATTTTTTAAAAAATAGCCAATTAGGCTACCTTTGGCCATCTGTCTTAAAGCTCTAATCTTAGCAGTTAATGGTGTCTATCCTTATTCCTCCTTTGTAACTGTTGTTGAAGCCTTTCATGCAACTAGACCAAGATGTTTAAGGAAAAAAAATCAATCTTCTCCACCCCAAAAATGTATTAATGACATACCTCAAAATGCCACCAAGCAGGGCTTAATTGTATGCAGTTCAGGTTTCCTGCTAATGTGTTTCATGCTCAGCTCTCACTTAGTTTGTTTTAATTATAATTACTGTGATTGGTTTGATAAATGCATCCCAGG | GAAAAATGCCTGCAAAGGATCCATGAATCCACCCTGGACCCAACACTATCCATCATACTCCAACTGGTTTTCAGTAGCCCTGGGCTGTAGATCAGTAAGCACACACACTCCTTTAAAAAGCATGATTAAATCCCTGGAAGCCTGTTGTCATGAGGTTATATTTCTCAATTAACAAATGGCAGAAAGGACAAACACTCTCAGGGGCTAGGGAATTTATTTTTTACATTCAGGCAGGAGTCTCATTTCCAAAAAGGTTAGGGACCGCTTATTTGGTCCAGTGGCCCCATTTTCCAAGTGGAGAACAAGAGGTCCTGAGAGGGCAAGTGACTTGCTTCAGGATACACAACCTGGTCCAAAAACAGCAGCGTCAAGCCAGTGCACTGTGGATCACACAAACGGCCTCCTCAGGCCACTTAAGAGCTAACAAAACTGTTTCAGGGAAAAACAAAAAACAAAAAACCACAGAATGGCAGTAGCAAAGGCCACCTAATTATGCCAAGCAGAGATTTTATCTCTTTTAATGCTCATAAGAATCCACAGCCCTATTCACACATTGTAACCACACATTTGCTCAAGTATTTGTTACTATCACCTGCACTAGCTTTTAAGCCTCACAAAGGCAAGGGCCATGTCTGTGCAGAACTACGTTCCCAGTGCCTGAGAGCTATTTGCTCTGTAAGCTATACATTCCTGTTTTAAAGTATTAAAAAAAAAAAAAAAGCCCAGAAAGGCCAAGTGATTCATCTAAGGACACACAGCATGGAGTTACTGAAAAAGCTGTGCCACTCTGTCCATACTCTGCCCCAGACTCTCTCCAAACCACAGCCTTACCTTGACGGCCTCCGCGTGGGTCACCCGGGCCAGGGATTTGTCGTTGACGCGCAGAATCTGGTCCCCGACCCGCAGTCCTTCCTTCTCAGCTAGAGAGCCTGGTTCCACCAGAGACACGTAGATGCCCACGCCGTGCTCCGAGCCCCCACGGATGCTGAAGCCCAAGCCCTCGTGGGCCTTGGCACGCCGCAAACTCACCAGGCGCACCTCCCCTGGCCCCGCGCTGTCGGGGCCGCCCCAGGCGGGCTGCCTGTAGGGGGTGGTGGCGGGCAGGTAGAGGCCCTCGGCCGTGTATTGGTCGAAGAGCAGCTGGTCGGAGCGCGGGATGACCAGACGAAGCATGGGCAGCAGGCGCCGCTTGACCGGACTGTCCAGCAGCACGCGCAGGGTGCGCACCAGGTCGAAGACGTTGCGGCGCGCGTGGTAAGCGTTCAGGCAGTGGGTGAACTGCTCCCGCTCCGCCTCGCTCAGCAGCGCGGTCAGCGCTTGGTGCAGCTGGCGCACGTTGGCAGACAGTAACCGCAGCCCCGCGCCCCCGCCGCCGCCCGCCCCGGCCGCCGAGCCCAGCGAGCCGGTGGAGGACGAGCTCACCGACAGGCCGTCCAGCGGCGCGTTCATCTCCACGCCGAGGCCCGGCCGGGCTCTGAGCGCGCGGGGTGTGGGCGGTGCCGCTGTCCTCGCGGGTACTGGCGCGACAGCTGGATCCCCGGGAGCGCGGAGACGACGGCTGGAGCCTGGGTTTGGGGAGCACGGGTACAGTGGCTGGATCCTAGGGGGTCGCGGAGACCGCTGCTAGAGTCCCGGAGGCGCGAAGACGGCGGGGGTCGCGAACCTGGAATCCGGGGGACGCGGAGACGTCGGCGGGTTCCTGAGAGACACAAGAGTTGGCTGCTGGAGCCCGGAGGTGGCGGAGACTGCTGCTGGAGTCCGGGGGGCGCGGGGTCAGCAGCTACATTCTGGAGGGCACGGAGACGACGGGTGGCTGGAGTTTGGGGGCGCCGCAAAGCTGACCTGACTGCCCCGTCACACCATGCCCGGGGCTCCCCCAGCCGGGCGCCCGTTCCTCTAGGGCTGGGGGACCCCAAAGTCAGAAGTTGGGGCGGAGGGCGCTCTAGTCCCAGAGCACTCCGGGGAGTGGCAGCCGGTGAAGCGGCGCGGGCGTCCGACAAGGGGTGCGGGGCATGTCCGGGGCAGCCCCGGGATGCAGCCGCCCGGGGAGCCTCTGCGCCGCCCGGCCGCAAGCCCGGACTTTGCGAACTGTTGAGCCACCCGGGCCGAGTCTTCCAGCGAGTTCCGACGCCGTCTCGTTGCCAGCCCGGCCCGGGCCCCGCCCCCTCGTCCCTCCTCCTGCCCGCCCCCTCCCCACGGGCTCCTCAGGAAATGACGTCCCGCCCGGTGCGCCTGGCCGTTGCCTGGAGACGGGGTGAAACAGTCCAGCCCCAGGGAAGAAAGGGGTGAACGCGGCGGTAGGGGTGGGAGGAGCCCCCGCGTCCCCTACCCCGCCGGCAGAGCCGGGAGCGGGGCTCAGAAACAGCGCTCTTCGGCGGTCGCAGCGAGTGCCGACACCAGGATCGCTTTGGAGTAATTAGCCGGCTAGCTAATTCACAATTCGGGGGGAAATCGTCAAGTTTTTTGTTTGTTTGATTTTTGCTTCCAAAATACTGGGCACTTCAGTCTCGGTTTTCTTCCTTACAATGTGGCGCTCCCCTCCTGCACGCGCCCTGACATGACAAATTCCAGGGTTTATGTGGACGGTCGTTGGCCACCTACTGTGTGCGAGAGACGAATACAAGCATAGACTGCTGTCTGCCGGAGTCAACTCCGTGGCAGGGATGGATCAGGCTGGACCCCTTCCCAGTCTCCATTGCAAGGGAAAAGCCACTTTCAGAAATATTATATAAAGTGTACACCCCACGCTCGCGCACACACGTACAAATGAGCGCATATAAAACTGGTGAAATCTGAGTAAGGTGGGTGGATTTTATCAATGTCAATGTCCTGGTTGCCATCGTGTCAACATCGGGGGAAACTGGGTGAAGGGTACATGGCATGTCTATGTATTATTTCTTAGAACTGCATTTGGATCTACAATCTCAAAATAGAAATTAAAAATATACATATTTGAAGTGGCTTGGAGAAAAATCTCTTCTATGCTCTCCCATCCCTAGGCAAAATGGGAAGATACACCCAGGTGTGCCCTGGAGTCGGTCGTCACCCACCCAATCCCCCAAATAAGATTTAAGTAAAATCCTGTGCTTTTATTCTAATGGGGAGCTTCATAGTGCTACACACACACACACACACATACACACACACACCCTACCTCACACACATCCCTTCCAACCTGAGCTGCCTCTCCTAAGCTACTCTTCTATGTATTTTTCGTAAAAGTCTTCCAGAATTTCCATTGCAGAGCCAGCTGACATCTATCCAGGGTAGGGCAAGATGGAGGATTACCTGGAGGATTTGGTTTGTGGTGGACCCAGAAGGATAGATCATTCATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTGGTCGCTTTTCATTCAACGTTTTTGAAGCATCTGCTCTGTGCTGGGTCATGTGCTGGGTGCTGGAGACCCAGGGGAGAAAGATCAAATAAATAGAGTTAAAAACCAGTGTGATACCTGTTGTAATGGCGAGGGAGCCCAGGTTTAGGAGAGGAGAATATGGTAAGGACTTTACTGAAGAGGCGACACCTGAATGAAGAACCTGTAAGGAAAACGGACTTTCTCCTCTAGACAATGGGGAAGAGTGGAAAGGTTTTCAACACTGCTGACTTAATGCATTGAGGCTAGGAATGGAAGCTGTGTTTTCCCTAAAGATCTTCAATTCTTTACTTCCCTAAAACAGACATAGGTTAAATTAATGCCCAATAAACATATTTAACAGTGTGTCTGAGGAAGATTTTTTAAAAAATAGCCAATTAGGCTACCTTTGGCCATCTGTCTTAAAGCTCTAATCTTAGCAGTTAATGGTGTCTATCCTTATTCCTCCTTTGTAACTGTTGTTGAAGCCTTTCATGCAACTAGACCAAGATGTTTAAGGAAAAAAAATCAATCTTCTCCACCCCAAAAATGTATTAATGACATACCTCAAAATGCCACCAAGCAGGGCTTAATTGTATGCAGTTCAGGTTTCCTGCTAATGTGTTTCATGCTCAGCTCTCACTTAGTTTGTTTTAATTATAATTACTGTGATTGGTTTGATAAATGCATCCCAGGNNNNNNNN | benign | 149,369 |
Chromosome 9, position 116697936, gene ASTN2: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['TRIM32-related_disorder'] | GGCACTGCTATTTTTTAAATCATCTAGGCTTGAGTCTTTGGCTATCTCTGCTCTTCACCACTCCCCCACCATAATCCACTCACCTTTCAAATCTTACTGACTATACTTCTGGATATTGCTCAAATGAATCTTTCCATTTCCACCACCTGCTCCCTAGTTCAGACTCCCCATTATCCCCGTCTTCTCTGATGTTTCCCCACTCCATTCCTGCTTTGATCATATCATCTTCCTGCTTCAAAACATTCATCACCTCACCATGCCCTTGAAAATGACGCTCAAAAATCTCATTTTGGCTCTGAAGACCTTTTATAATTATTCCCCCAATTTACCTTTCCAAGTCTGTTACTCTATTCCCCATATATACTCCCACAGTTTTAATCTAAGGATAATAAAAAAGAGAACTAAAATTCATTAAAGGCTTTTTTGGTGCAGAGCCAAATCTTAGCATTCTATACACTCTATATATTATTTCATTCTTACATTAACTCTGTAAAGACAGTATTTTTCCATTTTAAAGGTGGAGAAAATAAAATGCATAGAGTTTAAGTATTCTCTGTTTTCTTTCTAATACATGAAACTTCTTGTCCTTTCCTTTGCCTTTTATACTTTGTTAAGGTTGTGCCTTTTGCCCACTTCTTTCTTCCCTCTCCATGTATTTATGCATCTTTCCAGGCCAATATAAAATGTCATCTTCCCTTTGAAAATTCTGTATCCCTTCAGATTGGAATGACTCCTCAACCCCCATCAAACTTAGTTTTTATTTCGTTTATAGTACCACTTTCTGCCTTCATTATTATTTACCTACATGTCTTGTCTTTTATAAAGTTTGAATATCTGAAGAGCAGGATCTGTATCCTAAAGACCTCTTGTATCTAGTACAGAACAAGATACCTAAACTTAGATGGGTGGATAGGTGAGTAAGTAGGAGGATAGATGCGTGGAAAATGTGTATTTTCTGATCTGATGTTTTGCAGATCACCTAAAACTAATCATCACAATTTTCTGCTTCTGTGGATGATTCCTAGGCCCCCAAACATGACACAATAAACTCTGTGACATGATTAAAAAAAAAAAAAAAAGCCTCCACACTTTTGCTTACATGGTTTTCTTTGCTTAAAGTACCTTTATCCTCATTCCTTCATTTCTTTCAAGACATATCTTAGGAGTGAAACTGCTTTTGGGAAGCCTTCCCCAAGTCTGTTAGGTAGAATCCATCATTCCATCCACTGTACTCCAGCAGAACATTATGTGGACTTGCATGTTATACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCGATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTA | GGCACTGCTATTTTTTAAATCATCTAGGCTTGAGTCTTTGGCTATCTCTGCTCTTCACCACTCCCCCACCATAATCCACTCACCTTTCAAATCTTACTGACTATACTTCTGGATATTGCTCAAATGAATCTTTCCATTTCCACCACCTGCTCCCTAGTTCAGACTCCCCATTATCCCCGTCTTCTCTGATGTTTCCCCACTCCATTCCTGCTTTGATCATATCATCTTCCTGCTTCAAAACATTCATCACCTCACCATGCCCTTGAAAATGACGCTCAAAAATCTCATTTTGGCTCTGAAGACCTTTTATAATTATTCCCCCAATTTACCTTTCCAAGTCTGTTACTCTATTCCCCATATATACTCCCACAGTTTTAATCTAAGGATAATAAAAAAGAGAACTAAAATTCATTAAAGGCTTTTTTGGTGCAGAGCCAAATCTTAGCATTCTATACACTCTATATATTATTTCATTCTTACATTAACTCTGTAAAGACAGTATTTTTCCATTTTAAAGGTGGAGAAAATAAAATGCATAGAGTTTAAGTATTCTCTGTTTTCTTTCTAATACATGAAACTTCTTGTCCTTTCCTTTGCCTTTTATACTTTGTTAAGGTTGTGCCTTTTGCCCACTTCTTTCTTCCCTCTCCATGTATTTATGCATCTTTCCAGGCCAATATAAAATGTCATCTTCCCTTTGAAAATTCTGTATCCCTTCAGATTGGAATGACTCCTCAACCCCCATCAAACTTAGTTTTTATTTCGTTTATAGTACCACTTTCTGCCTTCATTATTATTTACCTACATGTCTTGTCTTTTATAAAGTTTGAATATCTGAAGAGCAGGATCTGTATCCTAAAGACCTCTTGTATCTAGTACAGAACAAGATACCTAAACTTAGATGGGTGGATAGGTGAGTAAGTAGGAGGATAGATGCGTGGAAAATGTGTATTTTCTGATCTGATGTTTTGCAGATCACCTAAAACTAATCATCACAATTTTCTGCTTCTGTGGATGATTCCTAGGCCCCCAAACATGACACAATAAACTCTGTGACATGATTAAAAAAAAAAAAAAAAGCCTCCACACTTTTGCTTACATGGTTTTCTTTGCTTAAAGTACCTTTATCCTCATTCCTTCATTTCTTTCAAGACATATCTTAGGAGTGAAACTGCTTTTGGGAAGCCTTCCCCAAGTCTGTTAGGTAGAATCCATCATTCCATCCACTGTACTCCAGCAGAACATTATGTGGACTTGCATGTTATACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCGATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTANNNNNNNNNN | pathogenic | 149,487 |
Assess the variant on chromosome 9, position 116697969, impacting ASTN2: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_11', 'Sarcotubular_myopathy'] | GTCTTTGGCTATCTCTGCTCTTCACCACTCCCCCACCATAATCCACTCACCTTTCAAATCTTACTGACTATACTTCTGGATATTGCTCAAATGAATCTTTCCATTTCCACCACCTGCTCCCTAGTTCAGACTCCCCATTATCCCCGTCTTCTCTGATGTTTCCCCACTCCATTCCTGCTTTGATCATATCATCTTCCTGCTTCAAAACATTCATCACCTCACCATGCCCTTGAAAATGACGCTCAAAAATCTCATTTTGGCTCTGAAGACCTTTTATAATTATTCCCCCAATTTACCTTTCCAAGTCTGTTACTCTATTCCCCATATATACTCCCACAGTTTTAATCTAAGGATAATAAAAAAGAGAACTAAAATTCATTAAAGGCTTTTTTGGTGCAGAGCCAAATCTTAGCATTCTATACACTCTATATATTATTTCATTCTTACATTAACTCTGTAAAGACAGTATTTTTCCATTTTAAAGGTGGAGAAAATAAAATGCATAGAGTTTAAGTATTCTCTGTTTTCTTTCTAATACATGAAACTTCTTGTCCTTTCCTTTGCCTTTTATACTTTGTTAAGGTTGTGCCTTTTGCCCACTTCTTTCTTCCCTCTCCATGTATTTATGCATCTTTCCAGGCCAATATAAAATGTCATCTTCCCTTTGAAAATTCTGTATCCCTTCAGATTGGAATGACTCCTCAACCCCCATCAAACTTAGTTTTTATTTCGTTTATAGTACCACTTTCTGCCTTCATTATTATTTACCTACATGTCTTGTCTTTTATAAAGTTTGAATATCTGAAGAGCAGGATCTGTATCCTAAAGACCTCTTGTATCTAGTACAGAACAAGATACCTAAACTTAGATGGGTGGATAGGTGAGTAAGTAGGAGGATAGATGCGTGGAAAATGTGTATTTTCTGATCTGATGTTTTGCAGATCACCTAAAACTAATCATCACAATTTTCTGCTTCTGTGGATGATTCCTAGGCCCCCAAACATGACACAATAAACTCTGTGACATGATTAAAAAAAAAAAAAAAAGCCTCCACACTTTTGCTTACATGGTTTTCTTTGCTTAAAGTACCTTTATCCTCATTCCTTCATTTCTTTCAAGACATATCTTAGGAGTGAAACTGCTTTTGGGAAGCCTTCCCCAAGTCTGTTAGGTAGAATCCATCATTCCATCCACTGTACTCCAGCAGAACATTATGTGGACTTGCATGTTATACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCGATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTAGTAGAGAGAGCCACTTTAGCCCTTTGTGCCATG | GTCTTTGGCTATCTCTGCTCTTCACCACTCCCCCACCATAATCCACTCACCTTTCAAATCTTACTGACTATACTTCTGGATATTGCTCAAATGAATCTTTCCATTTCCACCACCTGCTCCCTAGTTCAGACTCCCCATTATCCCCGTCTTCTCTGATGTTTCCCCACTCCATTCCTGCTTTGATCATATCATCTTCCTGCTTCAAAACATTCATCACCTCACCATGCCCTTGAAAATGACGCTCAAAAATCTCATTTTGGCTCTGAAGACCTTTTATAATTATTCCCCCAATTTACCTTTCCAAGTCTGTTACTCTATTCCCCATATATACTCCCACAGTTTTAATCTAAGGATAATAAAAAAGAGAACTAAAATTCATTAAAGGCTTTTTTGGTGCAGAGCCAAATCTTAGCATTCTATACACTCTATATATTATTTCATTCTTACATTAACTCTGTAAAGACAGTATTTTTCCATTTTAAAGGTGGAGAAAATAAAATGCATAGAGTTTAAGTATTCTCTGTTTTCTTTCTAATACATGAAACTTCTTGTCCTTTCCTTTGCCTTTTATACTTTGTTAAGGTTGTGCCTTTTGCCCACTTCTTTCTTCCCTCTCCATGTATTTATGCATCTTTCCAGGCCAATATAAAATGTCATCTTCCCTTTGAAAATTCTGTATCCCTTCAGATTGGAATGACTCCTCAACCCCCATCAAACTTAGTTTTTATTTCGTTTATAGTACCACTTTCTGCCTTCATTATTATTTACCTACATGTCTTGTCTTTTATAAAGTTTGAATATCTGAAGAGCAGGATCTGTATCCTAAAGACCTCTTGTATCTAGTACAGAACAAGATACCTAAACTTAGATGGGTGGATAGGTGAGTAAGTAGGAGGATAGATGCGTGGAAAATGTGTATTTTCTGATCTGATGTTTTGCAGATCACCTAAAACTAATCATCACAATTTTCTGCTTCTGTGGATGATTCCTAGGCCCCCAAACATGACACAATAAACTCTGTGACATGATTAAAAAAAAAAAAAAAAGCCTCCACACTTTTGCTTACATGGTTTTCTTTGCTTAAAGTACCTTTATCCTCATTCCTTCATTTCTTTCAAGACATATCTTAGGAGTGAAACTGCTTTTGGGAAGCCTTCCCCAAGTCTGTTAGGTAGAATCCATCATTCCATCCACTGTACTCCAGCAGAACATTATGTGGACTTGCATGTTATACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCGATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTAGTAGAGAGAGCCACTTTAGCCCTTTGTGCCATGNNNN | pathogenic | 149,489 |
A genetic alteration at chromosome 9, position 116698197, in gene ASTN2—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_11', 'Sarcotubular_myopathy'] | CTTGAAAATGACGCTCAAAAATCTCATTTTGGCTCTGAAGACCTTTTATAATTATTCCCCCAATTTACCTTTCCAAGTCTGTTACTCTATTCCCCATATATACTCCCACAGTTTTAATCTAAGGATAATAAAAAAGAGAACTAAAATTCATTAAAGGCTTTTTTGGTGCAGAGCCAAATCTTAGCATTCTATACACTCTATATATTATTTCATTCTTACATTAACTCTGTAAAGACAGTATTTTTCCATTTTAAAGGTGGAGAAAATAAAATGCATAGAGTTTAAGTATTCTCTGTTTTCTTTCTAATACATGAAACTTCTTGTCCTTTCCTTTGCCTTTTATACTTTGTTAAGGTTGTGCCTTTTGCCCACTTCTTTCTTCCCTCTCCATGTATTTATGCATCTTTCCAGGCCAATATAAAATGTCATCTTCCCTTTGAAAATTCTGTATCCCTTCAGATTGGAATGACTCCTCAACCCCCATCAAACTTAGTTTTTATTTCGTTTATAGTACCACTTTCTGCCTTCATTATTATTTACCTACATGTCTTGTCTTTTATAAAGTTTGAATATCTGAAGAGCAGGATCTGTATCCTAAAGACCTCTTGTATCTAGTACAGAACAAGATACCTAAACTTAGATGGGTGGATAGGTGAGTAAGTAGGAGGATAGATGCGTGGAAAATGTGTATTTTCTGATCTGATGTTTTGCAGATCACCTAAAACTAATCATCACAATTTTCTGCTTCTGTGGATGATTCCTAGGCCCCCAAACATGACACAATAAACTCTGTGACATGATTAAAAAAAAAAAAAAAAGCCTCCACACTTTTGCTTACATGGTTTTCTTTGCTTAAAGTACCTTTATCCTCATTCCTTCATTTCTTTCAAGACATATCTTAGGAGTGAAACTGCTTTTGGGAAGCCTTCCCCAAGTCTGTTAGGTAGAATCCATCATTCCATCCACTGTACTCCAGCAGAACATTATGTGGACTTGCATGTTATACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCGATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTAGTAGAGAGAGCCACTTTAGCCCTTTGTGCCATGTTTGAAATTTGCCCTTGTATTAAATCCTTGATTTTTTCCCATTTGGCTTTGATGCCCTTGATCCATTGTTTCCTTCCTACTATAATGTGCTTCATCTGTGACACTTTCTCTTGAACTCTGATTGGATTCACTGTGCATGCTTCAGTGGGATCTGCTCCACCTTTCAGTGACATTTAAGACATCATATTCCCGTAACATTATGTCTCAGTCTGATCGTCTTTACCAGTA | CTTGAAAATGACGCTCAAAAATCTCATTTTGGCTCTGAAGACCTTTTATAATTATTCCCCCAATTTACCTTTCCAAGTCTGTTACTCTATTCCCCATATATACTCCCACAGTTTTAATCTAAGGATAATAAAAAAGAGAACTAAAATTCATTAAAGGCTTTTTTGGTGCAGAGCCAAATCTTAGCATTCTATACACTCTATATATTATTTCATTCTTACATTAACTCTGTAAAGACAGTATTTTTCCATTTTAAAGGTGGAGAAAATAAAATGCATAGAGTTTAAGTATTCTCTGTTTTCTTTCTAATACATGAAACTTCTTGTCCTTTCCTTTGCCTTTTATACTTTGTTAAGGTTGTGCCTTTTGCCCACTTCTTTCTTCCCTCTCCATGTATTTATGCATCTTTCCAGGCCAATATAAAATGTCATCTTCCCTTTGAAAATTCTGTATCCCTTCAGATTGGAATGACTCCTCAACCCCCATCAAACTTAGTTTTTATTTCGTTTATAGTACCACTTTCTGCCTTCATTATTATTTACCTACATGTCTTGTCTTTTATAAAGTTTGAATATCTGAAGAGCAGGATCTGTATCCTAAAGACCTCTTGTATCTAGTACAGAACAAGATACCTAAACTTAGATGGGTGGATAGGTGAGTAAGTAGGAGGATAGATGCGTGGAAAATGTGTATTTTCTGATCTGATGTTTTGCAGATCACCTAAAACTAATCATCACAATTTTCTGCTTCTGTGGATGATTCCTAGGCCCCCAAACATGACACAATAAACTCTGTGACATGATTAAAAAAAAAAAAAAAAGCCTCCACACTTTTGCTTACATGGTTTTCTTTGCTTAAAGTACCTTTATCCTCATTCCTTCATTTCTTTCAAGACATATCTTAGGAGTGAAACTGCTTTTGGGAAGCCTTCCCCAAGTCTGTTAGGTAGAATCCATCATTCCATCCACTGTACTCCAGCAGAACATTATGTGGACTTGCATGTTATACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCGATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTAGTAGAGAGAGCCACTTTAGCCCTTTGTGCCATGTTTGAAATTTGCCCTTGTATTAAATCCTTGATTTTTTCCCATTTGGCTTTGATGCCCTTGATCCATTGTTTCCTTCCTACTATAATGTGCTTCATCTGTGACACTTTCTCTTGAACTCTGATTGGATTCACTGTGCATGCTTCAGTGGGATCTGCTCCACCTTTCAGTGACATTTAAGACATCATATTCCCGTAACATTATGTCTCAGTCTGATCGTCTTTACCAGTANNNNNNNN | pathogenic | 149,494 |
A genetic alteration at chromosome 9, position 116698344, in gene ASTN2—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_11', 'Sarcotubular_myopathy'] | TCATTAAAGGCTTTTTTGGTGCAGAGCCAAATCTTAGCATTCTATACACTCTATATATTATTTCATTCTTACATTAACTCTGTAAAGACAGTATTTTTCCATTTTAAAGGTGGAGAAAATAAAATGCATAGAGTTTAAGTATTCTCTGTTTTCTTTCTAATACATGAAACTTCTTGTCCTTTCCTTTGCCTTTTATACTTTGTTAAGGTTGTGCCTTTTGCCCACTTCTTTCTTCCCTCTCCATGTATTTATGCATCTTTCCAGGCCAATATAAAATGTCATCTTCCCTTTGAAAATTCTGTATCCCTTCAGATTGGAATGACTCCTCAACCCCCATCAAACTTAGTTTTTATTTCGTTTATAGTACCACTTTCTGCCTTCATTATTATTTACCTACATGTCTTGTCTTTTATAAAGTTTGAATATCTGAAGAGCAGGATCTGTATCCTAAAGACCTCTTGTATCTAGTACAGAACAAGATACCTAAACTTAGATGGGTGGATAGGTGAGTAAGTAGGAGGATAGATGCGTGGAAAATGTGTATTTTCTGATCTGATGTTTTGCAGATCACCTAAAACTAATCATCACAATTTTCTGCTTCTGTGGATGATTCCTAGGCCCCCAAACATGACACAATAAACTCTGTGACATGATTAAAAAAAAAAAAAAAAGCCTCCACACTTTTGCTTACATGGTTTTCTTTGCTTAAAGTACCTTTATCCTCATTCCTTCATTTCTTTCAAGACATATCTTAGGAGTGAAACTGCTTTTGGGAAGCCTTCCCCAAGTCTGTTAGGTAGAATCCATCATTCCATCCACTGTACTCCAGCAGAACATTATGTGGACTTGCATGTTATACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCGATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTAGTAGAGAGAGCCACTTTAGCCCTTTGTGCCATGTTTGAAATTTGCCCTTGTATTAAATCCTTGATTTTTTCCCATTTGGCTTTGATGCCCTTGATCCATTGTTTCCTTCCTACTATAATGTGCTTCATCTGTGACACTTTCTCTTGAACTCTGATTGGATTCACTGTGCATGCTTCAGTGGGATCTGCTCCACCTTTCAGTGACATTTAAGACATCATATTCCCGTAACATTATGTCTCAGTCTGATCGTCTTTACCAGTATGAAAGTCATTCATTTAGTGCTACCAAAGGGGATACACAAGCCCTTTAGGAAGCAGTACCTCTCGCCTGGAGGATCTGTGCCATCTTGGATTGAGAATTGCAGATGTGACAGAATGGATTGACCCTAGTTGGTTGGTATTGATGACT | TCATTAAAGGCTTTTTTGGTGCAGAGCCAAATCTTAGCATTCTATACACTCTATATATTATTTCATTCTTACATTAACTCTGTAAAGACAGTATTTTTCCATTTTAAAGGTGGAGAAAATAAAATGCATAGAGTTTAAGTATTCTCTGTTTTCTTTCTAATACATGAAACTTCTTGTCCTTTCCTTTGCCTTTTATACTTTGTTAAGGTTGTGCCTTTTGCCCACTTCTTTCTTCCCTCTCCATGTATTTATGCATCTTTCCAGGCCAATATAAAATGTCATCTTCCCTTTGAAAATTCTGTATCCCTTCAGATTGGAATGACTCCTCAACCCCCATCAAACTTAGTTTTTATTTCGTTTATAGTACCACTTTCTGCCTTCATTATTATTTACCTACATGTCTTGTCTTTTATAAAGTTTGAATATCTGAAGAGCAGGATCTGTATCCTAAAGACCTCTTGTATCTAGTACAGAACAAGATACCTAAACTTAGATGGGTGGATAGGTGAGTAAGTAGGAGGATAGATGCGTGGAAAATGTGTATTTTCTGATCTGATGTTTTGCAGATCACCTAAAACTAATCATCACAATTTTCTGCTTCTGTGGATGATTCCTAGGCCCCCAAACATGACACAATAAACTCTGTGACATGATTAAAAAAAAAAAAAAAAGCCTCCACACTTTTGCTTACATGGTTTTCTTTGCTTAAAGTACCTTTATCCTCATTCCTTCATTTCTTTCAAGACATATCTTAGGAGTGAAACTGCTTTTGGGAAGCCTTCCCCAAGTCTGTTAGGTAGAATCCATCATTCCATCCACTGTACTCCAGCAGAACATTATGTGGACTTGCATGTTATACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCGATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTAGTAGAGAGAGCCACTTTAGCCCTTTGTGCCATGTTTGAAATTTGCCCTTGTATTAAATCCTTGATTTTTTCCCATTTGGCTTTGATGCCCTTGATCCATTGTTTCCTTCCTACTATAATGTGCTTCATCTGTGACACTTTCTCTTGAACTCTGATTGGATTCACTGTGCATGCTTCAGTGGGATCTGCTCCACCTTTCAGTGACATTTAAGACATCATATTCCCGTAACATTATGTCTCAGTCTGATCGTCTTTACCAGTATGAAAGTCATTCATTTAGTGCTACCAAAGGGGATACACAAGCCCTTTAGGAAGCAGTACCTCTCGCCTGGAGGATCTGTGCCATCTTGGATTGAGAATTGCAGATGTGACAGAATGGATTGACCCTAGTTGGTTGGTATTGATGACTNN | pathogenic | 149,496 |
Is the genetic change at chromosome 9, position 116698432, within gene ASTN2 benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_11', 'Limb-girdle_muscular_dystrophy', 'Sarcotubular_myopathy'] | CAGTATTTTTCCATTTTAAAGGTGGAGAAAATAAAATGCATAGAGTTTAAGTATTCTCTGTTTTCTTTCTAATACATGAAACTTCTTGTCCTTTCCTTTGCCTTTTATACTTTGTTAAGGTTGTGCCTTTTGCCCACTTCTTTCTTCCCTCTCCATGTATTTATGCATCTTTCCAGGCCAATATAAAATGTCATCTTCCCTTTGAAAATTCTGTATCCCTTCAGATTGGAATGACTCCTCAACCCCCATCAAACTTAGTTTTTATTTCGTTTATAGTACCACTTTCTGCCTTCATTATTATTTACCTACATGTCTTGTCTTTTATAAAGTTTGAATATCTGAAGAGCAGGATCTGTATCCTAAAGACCTCTTGTATCTAGTACAGAACAAGATACCTAAACTTAGATGGGTGGATAGGTGAGTAAGTAGGAGGATAGATGCGTGGAAAATGTGTATTTTCTGATCTGATGTTTTGCAGATCACCTAAAACTAATCATCACAATTTTCTGCTTCTGTGGATGATTCCTAGGCCCCCAAACATGACACAATAAACTCTGTGACATGATTAAAAAAAAAAAAAAAAGCCTCCACACTTTTGCTTACATGGTTTTCTTTGCTTAAAGTACCTTTATCCTCATTCCTTCATTTCTTTCAAGACATATCTTAGGAGTGAAACTGCTTTTGGGAAGCCTTCCCCAAGTCTGTTAGGTAGAATCCATCATTCCATCCACTGTACTCCAGCAGAACATTATGTGGACTTGCATGTTATACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCGATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTAGTAGAGAGAGCCACTTTAGCCCTTTGTGCCATGTTTGAAATTTGCCCTTGTATTAAATCCTTGATTTTTTCCCATTTGGCTTTGATGCCCTTGATCCATTGTTTCCTTCCTACTATAATGTGCTTCATCTGTGACACTTTCTCTTGAACTCTGATTGGATTCACTGTGCATGCTTCAGTGGGATCTGCTCCACCTTTCAGTGACATTTAAGACATCATATTCCCGTAACATTATGTCTCAGTCTGATCGTCTTTACCAGTATGAAAGTCATTCATTTAGTGCTACCAAAGGGGATACACAAGCCCTTTAGGAAGCAGTACCTCTCGCCTGGAGGATCTGTGCCATCTTGGATTGAGAATTGCAGATGTGACAGAATGGATTGACCCTAGTTGGTTGGTATTGATGACTTCAGCCTGGAAATTGCTTGCCTTTTAAAGAAGCATATATGGGTTGGAATTATGCCAAAGCATAGGAAGCTGGGAATAAGCAAACAAAT | CAGTATTTTTCCATTTTAAAGGTGGAGAAAATAAAATGCATAGAGTTTAAGTATTCTCTGTTTTCTTTCTAATACATGAAACTTCTTGTCCTTTCCTTTGCCTTTTATACTTTGTTAAGGTTGTGCCTTTTGCCCACTTCTTTCTTCCCTCTCCATGTATTTATGCATCTTTCCAGGCCAATATAAAATGTCATCTTCCCTTTGAAAATTCTGTATCCCTTCAGATTGGAATGACTCCTCAACCCCCATCAAACTTAGTTTTTATTTCGTTTATAGTACCACTTTCTGCCTTCATTATTATTTACCTACATGTCTTGTCTTTTATAAAGTTTGAATATCTGAAGAGCAGGATCTGTATCCTAAAGACCTCTTGTATCTAGTACAGAACAAGATACCTAAACTTAGATGGGTGGATAGGTGAGTAAGTAGGAGGATAGATGCGTGGAAAATGTGTATTTTCTGATCTGATGTTTTGCAGATCACCTAAAACTAATCATCACAATTTTCTGCTTCTGTGGATGATTCCTAGGCCCCCAAACATGACACAATAAACTCTGTGACATGATTAAAAAAAAAAAAAAAAGCCTCCACACTTTTGCTTACATGGTTTTCTTTGCTTAAAGTACCTTTATCCTCATTCCTTCATTTCTTTCAAGACATATCTTAGGAGTGAAACTGCTTTTGGGAAGCCTTCCCCAAGTCTGTTAGGTAGAATCCATCATTCCATCCACTGTACTCCAGCAGAACATTATGTGGACTTGCATGTTATACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCGATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTAGTAGAGAGAGCCACTTTAGCCCTTTGTGCCATGTTTGAAATTTGCCCTTGTATTAAATCCTTGATTTTTTCCCATTTGGCTTTGATGCCCTTGATCCATTGTTTCCTTCCTACTATAATGTGCTTCATCTGTGACACTTTCTCTTGAACTCTGATTGGATTCACTGTGCATGCTTCAGTGGGATCTGCTCCACCTTTCAGTGACATTTAAGACATCATATTCCCGTAACATTATGTCTCAGTCTGATCGTCTTTACCAGTATGAAAGTCATTCATTTAGTGCTACCAAAGGGGATACACAAGCCCTTTAGGAAGCAGTACCTCTCGCCTGGAGGATCTGTGCCATCTTGGATTGAGAATTGCAGATGTGACAGAATGGATTGACCCTAGTTGGTTGGTATTGATGACTTCAGCCTGGAAATTGCTTGCCTTTTAAAGAAGCATATATGGGTTGGAATTATGCCAAAGCATAGGAAGCTGGGAATAAGCAAACAAATN | pathogenic | 149,499 |
Considering the genetic mutation at chromosome 9, position 116698848, impacting ASTN2: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_11', 'Sarcotubular_myopathy', 'TRIM32-related_disorder'] | GGTGAGTAAGTAGGAGGATAGATGCGTGGAAAATGTGTATTTTCTGATCTGATGTTTTGCAGATCACCTAAAACTAATCATCACAATTTTCTGCTTCTGTGGATGATTCCTAGGCCCCCAAACATGACACAATAAACTCTGTGACATGATTAAAAAAAAAAAAAAAAGCCTCCACACTTTTGCTTACATGGTTTTCTTTGCTTAAAGTACCTTTATCCTCATTCCTTCATTTCTTTCAAGACATATCTTAGGAGTGAAACTGCTTTTGGGAAGCCTTCCCCAAGTCTGTTAGGTAGAATCCATCATTCCATCCACTGTACTCCAGCAGAACATTATGTGGACTTGCATGTTATACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCGATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTAGTAGAGAGAGCCACTTTAGCCCTTTGTGCCATGTTTGAAATTTGCCCTTGTATTAAATCCTTGATTTTTTCCCATTTGGCTTTGATGCCCTTGATCCATTGTTTCCTTCCTACTATAATGTGCTTCATCTGTGACACTTTCTCTTGAACTCTGATTGGATTCACTGTGCATGCTTCAGTGGGATCTGCTCCACCTTTCAGTGACATTTAAGACATCATATTCCCGTAACATTATGTCTCAGTCTGATCGTCTTTACCAGTATGAAAGTCATTCATTTAGTGCTACCAAAGGGGATACACAAGCCCTTTAGGAAGCAGTACCTCTCGCCTGGAGGATCTGTGCCATCTTGGATTGAGAATTGCAGATGTGACAGAATGGATTGACCCTAGTTGGTTGGTATTGATGACTTCAGCCTGGAAATTGCTTGCCTTTTAAAGAAGCATATATGGGTTGGAATTATGCCAAAGCATAGGAAGCTGGGAATAAGCAAACAAATGCTGATATAGTCAGCAAATTTGGATAGTCTCTAGGGCTCATCATTTTTCATACTACCTCTCTCTTCTGGCCTGTGTCTAAGGAATTGTACAACATAGGCCAGGGCCAACAAAGTGGAGAGGTGGACACATTTTCATGTTCATTACTAAAACAAACAGCAAAACTATTGGTTTGTTATTCTGTGTTTTCCTCAAGTCAGTACATACTATTTGGTTTCAGGATTTCTTTCCATTTCTCTATCAAGCATTAAATAATTGAGAACTGTTTCTTCATCTCTGGTGTTCATGTCTTTTAATTAAATACGGAATTTTGGAGATGATAAGAGGGATAACCTGCGCTATGCCATTTTGCTTCCTTATCTCACTGTGTTCTTTCAGAGTGTAGATATCTACCCAGGTCAAAATTCAGCCAAAAGCA | GGTGAGTAAGTAGGAGGATAGATGCGTGGAAAATGTGTATTTTCTGATCTGATGTTTTGCAGATCACCTAAAACTAATCATCACAATTTTCTGCTTCTGTGGATGATTCCTAGGCCCCCAAACATGACACAATAAACTCTGTGACATGATTAAAAAAAAAAAAAAAAGCCTCCACACTTTTGCTTACATGGTTTTCTTTGCTTAAAGTACCTTTATCCTCATTCCTTCATTTCTTTCAAGACATATCTTAGGAGTGAAACTGCTTTTGGGAAGCCTTCCCCAAGTCTGTTAGGTAGAATCCATCATTCCATCCACTGTACTCCAGCAGAACATTATGTGGACTTGCATGTTATACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCGATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTAGTAGAGAGAGCCACTTTAGCCCTTTGTGCCATGTTTGAAATTTGCCCTTGTATTAAATCCTTGATTTTTTCCCATTTGGCTTTGATGCCCTTGATCCATTGTTTCCTTCCTACTATAATGTGCTTCATCTGTGACACTTTCTCTTGAACTCTGATTGGATTCACTGTGCATGCTTCAGTGGGATCTGCTCCACCTTTCAGTGACATTTAAGACATCATATTCCCGTAACATTATGTCTCAGTCTGATCGTCTTTACCAGTATGAAAGTCATTCATTTAGTGCTACCAAAGGGGATACACAAGCCCTTTAGGAAGCAGTACCTCTCGCCTGGAGGATCTGTGCCATCTTGGATTGAGAATTGCAGATGTGACAGAATGGATTGACCCTAGTTGGTTGGTATTGATGACTTCAGCCTGGAAATTGCTTGCCTTTTAAAGAAGCATATATGGGTTGGAATTATGCCAAAGCATAGGAAGCTGGGAATAAGCAAACAAATGCTGATATAGTCAGCAAATTTGGATAGTCTCTAGGGCTCATCATTTTTCATACTACCTCTCTCTTCTGGCCTGTGTCTAAGGAATTGTACAACATAGGCCAGGGCCAACAAAGTGGAGAGGTGGACACATTTTCATGTTCATTACTAAAACAAACAGCAAAACTATTGGTTTGTTATTCTGTGTTTTCCTCAAGTCAGTACATACTATTTGGTTTCAGGATTTCTTTCCATTTCTCTATCAAGCATTAAATAATTGAGAACTGTTTCTTCATCTCTGGTGTTCATGTCTTTTAATTAAATACGGAATTTTGGAGATGATAAGAGGGATAACCTGCGCTATGCCATTTTGCTTCCTTATCTCACTGTGTTCTTTCAGAGTGTAGATATCTACCCAGGTCAAAATTCAGCCAAAAGCAN | pathogenic | 149,502 |
Considering the variant on chromosome 9, location 116698869, involving gene ASTN2, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Bardet-Biedl_syndrome_11', 'Sarcotubular_myopathy'] | ATGCGTGGAAAATGTGTATTTTCTGATCTGATGTTTTGCAGATCACCTAAAACTAATCATCACAATTTTCTGCTTCTGTGGATGATTCCTAGGCCCCCAAACATGACACAATAAACTCTGTGACATGATTAAAAAAAAAAAAAAAAGCCTCCACACTTTTGCTTACATGGTTTTCTTTGCTTAAAGTACCTTTATCCTCATTCCTTCATTTCTTTCAAGACATATCTTAGGAGTGAAACTGCTTTTGGGAAGCCTTCCCCAAGTCTGTTAGGTAGAATCCATCATTCCATCCACTGTACTCCAGCAGAACATTATGTGGACTTGCATGTTATACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCGATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTAGTAGAGAGAGCCACTTTAGCCCTTTGTGCCATGTTTGAAATTTGCCCTTGTATTAAATCCTTGATTTTTTCCCATTTGGCTTTGATGCCCTTGATCCATTGTTTCCTTCCTACTATAATGTGCTTCATCTGTGACACTTTCTCTTGAACTCTGATTGGATTCACTGTGCATGCTTCAGTGGGATCTGCTCCACCTTTCAGTGACATTTAAGACATCATATTCCCGTAACATTATGTCTCAGTCTGATCGTCTTTACCAGTATGAAAGTCATTCATTTAGTGCTACCAAAGGGGATACACAAGCCCTTTAGGAAGCAGTACCTCTCGCCTGGAGGATCTGTGCCATCTTGGATTGAGAATTGCAGATGTGACAGAATGGATTGACCCTAGTTGGTTGGTATTGATGACTTCAGCCTGGAAATTGCTTGCCTTTTAAAGAAGCATATATGGGTTGGAATTATGCCAAAGCATAGGAAGCTGGGAATAAGCAAACAAATGCTGATATAGTCAGCAAATTTGGATAGTCTCTAGGGCTCATCATTTTTCATACTACCTCTCTCTTCTGGCCTGTGTCTAAGGAATTGTACAACATAGGCCAGGGCCAACAAAGTGGAGAGGTGGACACATTTTCATGTTCATTACTAAAACAAACAGCAAAACTATTGGTTTGTTATTCTGTGTTTTCCTCAAGTCAGTACATACTATTTGGTTTCAGGATTTCTTTCCATTTCTCTATCAAGCATTAAATAATTGAGAACTGTTTCTTCATCTCTGGTGTTCATGTCTTTTAATTAAATACGGAATTTTGGAGATGATAAGAGGGATAACCTGCGCTATGCCATTTTGCTTCCTTATCTCACTGTGTTCTTTCAGAGTGTAGATATCTACCCAGGTCAAAATTCAGCCAAAAGCACTATTATGTAAAGATAATAAT | ATGCGTGGAAAATGTGTATTTTCTGATCTGATGTTTTGCAGATCACCTAAAACTAATCATCACAATTTTCTGCTTCTGTGGATGATTCCTAGGCCCCCAAACATGACACAATAAACTCTGTGACATGATTAAAAAAAAAAAAAAAAGCCTCCACACTTTTGCTTACATGGTTTTCTTTGCTTAAAGTACCTTTATCCTCATTCCTTCATTTCTTTCAAGACATATCTTAGGAGTGAAACTGCTTTTGGGAAGCCTTCCCCAAGTCTGTTAGGTAGAATCCATCATTCCATCCACTGTACTCCAGCAGAACATTATGTGGACTTGCATGTTATACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCGATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTAGTAGAGAGAGCCACTTTAGCCCTTTGTGCCATGTTTGAAATTTGCCCTTGTATTAAATCCTTGATTTTTTCCCATTTGGCTTTGATGCCCTTGATCCATTGTTTCCTTCCTACTATAATGTGCTTCATCTGTGACACTTTCTCTTGAACTCTGATTGGATTCACTGTGCATGCTTCAGTGGGATCTGCTCCACCTTTCAGTGACATTTAAGACATCATATTCCCGTAACATTATGTCTCAGTCTGATCGTCTTTACCAGTATGAAAGTCATTCATTTAGTGCTACCAAAGGGGATACACAAGCCCTTTAGGAAGCAGTACCTCTCGCCTGGAGGATCTGTGCCATCTTGGATTGAGAATTGCAGATGTGACAGAATGGATTGACCCTAGTTGGTTGGTATTGATGACTTCAGCCTGGAAATTGCTTGCCTTTTAAAGAAGCATATATGGGTTGGAATTATGCCAAAGCATAGGAAGCTGGGAATAAGCAAACAAATGCTGATATAGTCAGCAAATTTGGATAGTCTCTAGGGCTCATCATTTTTCATACTACCTCTCTCTTCTGGCCTGTGTCTAAGGAATTGTACAACATAGGCCAGGGCCAACAAAGTGGAGAGGTGGACACATTTTCATGTTCATTACTAAAACAAACAGCAAAACTATTGGTTTGTTATTCTGTGTTTTCCTCAAGTCAGTACATACTATTTGGTTTCAGGATTTCTTTCCATTTCTCTATCAAGCATTAAATAATTGAGAACTGTTTCTTCATCTCTGGTGTTCATGTCTTTTAATTAAATACGGAATTTTGGAGATGATAAGAGGGATAACCTGCGCTATGCCATTTTGCTTCCTTATCTCACTGTGTTCTTTCAGAGTGTAGATATCTACCCAGGTCAAAATTCAGCCAAAAGCACTATTATGTAAAGATAATAATNN | pathogenic | 149,503 |
Clinical classification of chromosome 9, position 116699300, gene ASTN2: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_11', 'Sarcotubular_myopathy'] | TAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCGATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTAGTAGAGAGAGCCACTTTAGCCCTTTGTGCCATGTTTGAAATTTGCCCTTGTATTAAATCCTTGATTTTTTCCCATTTGGCTTTGATGCCCTTGATCCATTGTTTCCTTCCTACTATAATGTGCTTCATCTGTGACACTTTCTCTTGAACTCTGATTGGATTCACTGTGCATGCTTCAGTGGGATCTGCTCCACCTTTCAGTGACATTTAAGACATCATATTCCCGTAACATTATGTCTCAGTCTGATCGTCTTTACCAGTATGAAAGTCATTCATTTAGTGCTACCAAAGGGGATACACAAGCCCTTTAGGAAGCAGTACCTCTCGCCTGGAGGATCTGTGCCATCTTGGATTGAGAATTGCAGATGTGACAGAATGGATTGACCCTAGTTGGTTGGTATTGATGACTTCAGCCTGGAAATTGCTTGCCTTTTAAAGAAGCATATATGGGTTGGAATTATGCCAAAGCATAGGAAGCTGGGAATAAGCAAACAAATGCTGATATAGTCAGCAAATTTGGATAGTCTCTAGGGCTCATCATTTTTCATACTACCTCTCTCTTCTGGCCTGTGTCTAAGGAATTGTACAACATAGGCCAGGGCCAACAAAGTGGAGAGGTGGACACATTTTCATGTTCATTACTAAAACAAACAGCAAAACTATTGGTTTGTTATTCTGTGTTTTCCTCAAGTCAGTACATACTATTTGGTTTCAGGATTTCTTTCCATTTCTCTATCAAGCATTAAATAATTGAGAACTGTTTCTTCATCTCTGGTGTTCATGTCTTTTAATTAAATACGGAATTTTGGAGATGATAAGAGGGATAACCTGCGCTATGCCATTTTGCTTCCTTATCTCACTGTGTTCTTTCAGAGTGTAGATATCTACCCAGGTCAAAATTCAGCCAAAAGCACTATTATGTAAAGATAATAATCCAAATCTTTCTCCCAAATACATGTGTACAGAATCATCCCCCAAGGTTTAGAGTCACCAATACCCTATTCTGAGCTTCTGCTGTATGTTTTATGTTTATAATTACAGTTCACAAAAAGGAAGTTAGTCTTGTTTTTAAGATCAGAAGTGGGTGAGAGGACCTGTGATGAGGTTCCTGAGGGTTTGGTGTTTACTAAGTAATATATCTTACTCTAGGTGCAGGGCTGATGGCAAGCCAAAGAGCAACTGCCTTACTTTGATGTAAACAAAATTTGCTAAACTGAGCTGCTCAAAATTGTTTTTATGGTAGTAGTGTTTCTTTGGATTGTATCATAATAGCTGCCAAAGGATAGGTAAAGAGGTCATTAAAATGATGTTGAACTAGTTTGTCTTGTTCTTTTCATCTGGAGAAAGCCCCATATTCTGATTATG | TAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCGATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTAGTAGAGAGAGCCACTTTAGCCCTTTGTGCCATGTTTGAAATTTGCCCTTGTATTAAATCCTTGATTTTTTCCCATTTGGCTTTGATGCCCTTGATCCATTGTTTCCTTCCTACTATAATGTGCTTCATCTGTGACACTTTCTCTTGAACTCTGATTGGATTCACTGTGCATGCTTCAGTGGGATCTGCTCCACCTTTCAGTGACATTTAAGACATCATATTCCCGTAACATTATGTCTCAGTCTGATCGTCTTTACCAGTATGAAAGTCATTCATTTAGTGCTACCAAAGGGGATACACAAGCCCTTTAGGAAGCAGTACCTCTCGCCTGGAGGATCTGTGCCATCTTGGATTGAGAATTGCAGATGTGACAGAATGGATTGACCCTAGTTGGTTGGTATTGATGACTTCAGCCTGGAAATTGCTTGCCTTTTAAAGAAGCATATATGGGTTGGAATTATGCCAAAGCATAGGAAGCTGGGAATAAGCAAACAAATGCTGATATAGTCAGCAAATTTGGATAGTCTCTAGGGCTCATCATTTTTCATACTACCTCTCTCTTCTGGCCTGTGTCTAAGGAATTGTACAACATAGGCCAGGGCCAACAAAGTGGAGAGGTGGACACATTTTCATGTTCATTACTAAAACAAACAGCAAAACTATTGGTTTGTTATTCTGTGTTTTCCTCAAGTCAGTACATACTATTTGGTTTCAGGATTTCTTTCCATTTCTCTATCAAGCATTAAATAATTGAGAACTGTTTCTTCATCTCTGGTGTTCATGTCTTTTAATTAAATACGGAATTTTGGAGATGATAAGAGGGATAACCTGCGCTATGCCATTTTGCTTCCTTATCTCACTGTGTTCTTTCAGAGTGTAGATATCTACCCAGGTCAAAATTCAGCCAAAAGCACTATTATGTAAAGATAATAATCCAAATCTTTCTCCCAAATACATGTGTACAGAATCATCCCCCAAGGTTTAGAGTCACCAATACCCTATTCTGAGCTTCTGCTGTATGTTTTATGTTTATAATTACAGTTCACAAAAAGGAAGTTAGTCTTGTTTTTAAGATCAGAAGTGGGTGAGAGGACCTGTGATGAGGTTCCTGAGGGTTTGGTGTTTACTAAGTAATATATCTTACTCTAGGTGCAGGGCTGATGGCAAGCCAAAGAGCAACTGCCTTACTTTGATGTAAACAAAATTTGCTAAACTGAGCTGCTCAAAATTGTTTTTATGGTAGTAGTGTTTCTTTGGATTGTATCATAATAGCTGCCAAAGGATAGGTAAAGAGGTCATTAAAATGATGTTGAACTAGTTTGTCTTGTTCTTTTCATCTGGAGAAAGCCCCATATTCTGATTATGN | pathogenic | 149,510 |
The genetic variant at chromosome 9, position 116699308, affecting gene ASTN2: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'TRIM32-related_disorder'] | ATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCGATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTAGTAGAGAGAGCCACTTTAGCCCTTTGTGCCATGTTTGAAATTTGCCCTTGTATTAAATCCTTGATTTTTTCCCATTTGGCTTTGATGCCCTTGATCCATTGTTTCCTTCCTACTATAATGTGCTTCATCTGTGACACTTTCTCTTGAACTCTGATTGGATTCACTGTGCATGCTTCAGTGGGATCTGCTCCACCTTTCAGTGACATTTAAGACATCATATTCCCGTAACATTATGTCTCAGTCTGATCGTCTTTACCAGTATGAAAGTCATTCATTTAGTGCTACCAAAGGGGATACACAAGCCCTTTAGGAAGCAGTACCTCTCGCCTGGAGGATCTGTGCCATCTTGGATTGAGAATTGCAGATGTGACAGAATGGATTGACCCTAGTTGGTTGGTATTGATGACTTCAGCCTGGAAATTGCTTGCCTTTTAAAGAAGCATATATGGGTTGGAATTATGCCAAAGCATAGGAAGCTGGGAATAAGCAAACAAATGCTGATATAGTCAGCAAATTTGGATAGTCTCTAGGGCTCATCATTTTTCATACTACCTCTCTCTTCTGGCCTGTGTCTAAGGAATTGTACAACATAGGCCAGGGCCAACAAAGTGGAGAGGTGGACACATTTTCATGTTCATTACTAAAACAAACAGCAAAACTATTGGTTTGTTATTCTGTGTTTTCCTCAAGTCAGTACATACTATTTGGTTTCAGGATTTCTTTCCATTTCTCTATCAAGCATTAAATAATTGAGAACTGTTTCTTCATCTCTGGTGTTCATGTCTTTTAATTAAATACGGAATTTTGGAGATGATAAGAGGGATAACCTGCGCTATGCCATTTTGCTTCCTTATCTCACTGTGTTCTTTCAGAGTGTAGATATCTACCCAGGTCAAAATTCAGCCAAAAGCACTATTATGTAAAGATAATAATCCAAATCTTTCTCCCAAATACATGTGTACAGAATCATCCCCCAAGGTTTAGAGTCACCAATACCCTATTCTGAGCTTCTGCTGTATGTTTTATGTTTATAATTACAGTTCACAAAAAGGAAGTTAGTCTTGTTTTTAAGATCAGAAGTGGGTGAGAGGACCTGTGATGAGGTTCCTGAGGGTTTGGTGTTTACTAAGTAATATATCTTACTCTAGGTGCAGGGCTGATGGCAAGCCAAAGAGCAACTGCCTTACTTTGATGTAAACAAAATTTGCTAAACTGAGCTGCTCAAAATTGTTTTTATGGTAGTAGTGTTTCTTTGGATTGTATCATAATAGCTGCCAAAGGATAGGTAAAGAGGTCATTAAAATGATGTTGAACTAGTTTGTCTTGTTCTTTTCATCTGGAGAAAGCCCCATATTCTGATTATGAAATTGCA | ATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCGATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTAGTAGAGAGAGCCACTTTAGCCCTTTGTGCCATGTTTGAAATTTGCCCTTGTATTAAATCCTTGATTTTTTCCCATTTGGCTTTGATGCCCTTGATCCATTGTTTCCTTCCTACTATAATGTGCTTCATCTGTGACACTTTCTCTTGAACTCTGATTGGATTCACTGTGCATGCTTCAGTGGGATCTGCTCCACCTTTCAGTGACATTTAAGACATCATATTCCCGTAACATTATGTCTCAGTCTGATCGTCTTTACCAGTATGAAAGTCATTCATTTAGTGCTACCAAAGGGGATACACAAGCCCTTTAGGAAGCAGTACCTCTCGCCTGGAGGATCTGTGCCATCTTGGATTGAGAATTGCAGATGTGACAGAATGGATTGACCCTAGTTGGTTGGTATTGATGACTTCAGCCTGGAAATTGCTTGCCTTTTAAAGAAGCATATATGGGTTGGAATTATGCCAAAGCATAGGAAGCTGGGAATAAGCAAACAAATGCTGATATAGTCAGCAAATTTGGATAGTCTCTAGGGCTCATCATTTTTCATACTACCTCTCTCTTCTGGCCTGTGTCTAAGGAATTGTACAACATAGGCCAGGGCCAACAAAGTGGAGAGGTGGACACATTTTCATGTTCATTACTAAAACAAACAGCAAAACTATTGGTTTGTTATTCTGTGTTTTCCTCAAGTCAGTACATACTATTTGGTTTCAGGATTTCTTTCCATTTCTCTATCAAGCATTAAATAATTGAGAACTGTTTCTTCATCTCTGGTGTTCATGTCTTTTAATTAAATACGGAATTTTGGAGATGATAAGAGGGATAACCTGCGCTATGCCATTTTGCTTCCTTATCTCACTGTGTTCTTTCAGAGTGTAGATATCTACCCAGGTCAAAATTCAGCCAAAAGCACTATTATGTAAAGATAATAATCCAAATCTTTCTCCCAAATACATGTGTACAGAATCATCCCCCAAGGTTTAGAGTCACCAATACCCTATTCTGAGCTTCTGCTGTATGTTTTATGTTTATAATTACAGTTCACAAAAAGGAAGTTAGTCTTGTTTTTAAGATCAGAAGTGGGTGAGAGGACCTGTGATGAGGTTCCTGAGGGTTTGGTGTTTACTAAGTAATATATCTTACTCTAGGTGCAGGGCTGATGGCAAGCCAAAGAGCAACTGCCTTACTTTGATGTAAACAAAATTTGCTAAACTGAGCTGCTCAAAATTGTTTTTATGGTAGTAGTGTTTCTTTGGATTGTATCATAATAGCTGCCAAAGGATAGGTAAAGAGGTCATTAAAATGATGTTGAACTAGTTTGTCTTGTTCTTTTCATCTGGAGAAAGCCCCATATTCTGATTATGAAATTGCANNNNNNN | pathogenic | 149,511 |
Regarding the variant at chromosome 9 and position 120402960, affecting gene CDK5RAP2 (CDK5 regulatory subunit associated protein 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Microcephaly_3,_primary,_autosomal_recessive'] | CGTGCAGTCTTGAAAAAGATTTTAGACAAGCAAGCCTTAACATGCAGTATAAATCTCCAGACTGTAGGGCTTCTGTTTCACACGCTGAGCGAAAGCCTGGTACCACATAACACCAATTTATTGTTCTTAAAGACTGGTGAATTGTAGATTATGAGAGAATTTCAGTGGTGATCTTAGCCCAATCAATAACCATGATTAATAACCACCATGGTTAATAACCACCAGCATTAACTACAGTTACTACTCCAAGTAAAGGGTCTGTGGGAGGGCCATTCTTACTGTTTGGCGACCCACAGAGACTCGCCCAGAGAAAATGACACCAACAGCAAGCAATAAATGGTTTGCCTTTACTGGTCCCTGTTAAATGGCCCTGCTGTAGTGAATATGATATCAGGGTCTTGTACTGCTGGCAGAGCAAACTCAAATTGGGCGGTATCAAGGGCACAAGAAAATTATGTATGTGACTCAGAAAAGGGGAAATACAAGCCCAGAAATTCGAGACCACCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAAAATAAAAAATTAGCTAGGTGTGGCAGTGCACACCTGTAGTCCTGGCTACTCAGGAAGCTGGGATGGGAGGATTGCTTAAGTCCAGGAGGTCAAGGCTGCAGTGTGCCATAATCATGCCATGTACCCCAGCCTGGACAACATGGCCAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAGAGAAAAAAGACACATCCTTTTTAGATATCAAAGTAACAAAAAAATCATTATAAATGAAAATATCTGGGCTGGGTGCAGTGGCTCACGCCTTTATCCCAGCACTTTGGGAGGCCGAGGCAGTTGGATCACCTGAAGTCAGGAGTTCAAGACCAGCCTGCCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTAAAGAGGCTGAGGGAGGAGAATCACTTGAGCCCAAGAGGAGGAGGCTGCAGTGAGCCAAGATCGCACCACTGAACTCCAGCCTGAGCAACAGAATGAGACTCCATCTCAAAAAAAAAAAATTTTATATATATACTGCCAGGCATGATAGCTGACGCCTGTAATCCCAACACTTTAGGAGGCCAAGGTGGGAGGATCATTTGAGCCCAGGAGTTCGAGGCCAGCCTGGGCAACAGAGTGAGACCCTGTCTCTAAAAAAAATTTTTTTTAAAAGCCAGGTGTGATGGCACACGCCTGTGGTCACAGCTACTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCTAGGAGGTGGGGTCGAAGCTACAGTGAGCCATGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCTAGATCCTGTCTCAAAATAAAAAAAACACAACAACAACAAAACCTCAACAAAAACAAAAATGTAGTGAGACAAACGTTCATGAACAGAGATAGAATTGTTTTGCAAAGTAATGGAGCAACAGTTATCATCAAGAGCCCTAAAAAGTTCACAACCTTTGAACTAGTAATTCCACTTCATAATGGGCGACAGCCAGGTGGATGGGCAGATGAATGGACAGACACACCAGGGTGCAGATGGAGAGAAGAATGGATGAGAGACCAGATGTACAGAGGCCGTCATGGGAACAAGACAGCAGAGCCCATGGAGCAGTTGCAGGAACACAAGGCACAAACCCCACCAAACACAGCCACCACCAATAGTTCCCCACACTGGACCTGACCTCTGAGCTCTCTGAGGCCACACTTCCTGGTCCCTCTTCTCAGGGTCCTAATGAGGACAACTGCGCCATTTGACTCCCCTCCCCCTTCCACCGACACTCCCAGGGAGCAGCTTGTGCCCCCCAGCTCTGTGGTCAGGTTACCTTTGTTCCCAGCTCTTGACTTGTGGAGCTGGGAGCCTCTTGGGTTTGAATGTCCATTTCAGCAAGGAGCCTCTGTCCCTGGCTGATCTGTTTGAGCAGGGCCTCATAGTCCTCAATCAGGCCCAGGACATGGCGGCCATTCTTGCTGGCCCACAGGTGGTGGCCAGTGACCAGGCGGGACACACACGGAGTGCTAGTTGCCGAACTGCCACTGTCGCAGGAGAGGGAGTCCGTGTCATTCCCAGAGAGTGGAGGAGTCTCTGAAACTGTAAAATGAGAAGTAGGATGTAAAATCTGTTTCAGGTAACACTCTGCGTTCAAGACGCTTATGATGTTGAAGCTAGCTAGGAGGGCTAGAAGAGGCCCTCGTGCCCAAATGCCACCCAACACAAGCCCAGAGGGGAAAAGAGGCACGCTCCTGGACCTCTGTATATTACCCCACACTGGGCTTATGAGTCATCTTGTAGGAGAGGCTCAAGTCAACTCAACCAACACTTATCAACCACCCACTCGGCAGAAGACCCCAGATTCACAAGGATGACTCAAGCTGGTGCCTGCATTCCAGTAGCCCACAGTCTGATCAGAACACAGACACTGCAGAAGGTGCAACAGCAGAGTGATGAAGGGCCAGAGCCAGAAAAAACAATTATCTGTGCAGGGAGGGAGAGAACAGGGAAGGCTTCTGAGAAGGAGCAGCATTTGAACTGGATTGAGCAAGTAGCAAGAATTACACGAATGATGAGTCATTCTGACCAAGGACAGCAGCAAAGGCATGTCACAGAGAAATGTGTATTCATGATGAGTCTTGAGGAAACGGGACTTCTACCGGCAAAGAGTGGGACAAAGGGGGTCTAAAAGTCACAGTGAGAGGAAAGTGTGGGCCTGTCTGCAGGATGGTGACCCCTGTGTGGCTACACCAGGTTAAGGGATAAGGCTGGACGGACCCACTGGAGCTGGATCCTGGAGGGCCTTGAAAGCCTCACAAAGGTGGTCACAATTTTAATCTAAGGCAAGAGGGACCCAATGATGTTCTAACCTTGGTAACACCTAGGAGTGGATTAACTGGCTTGAAGGAGAAGATCACCAGCTGGGGATGCTGAGAACTTGAAATCCCAAATCCTTACCAAATACCCTCCTGAGTTGGGACCAGGGACCCCCCTTTTCTGCAAGTTAAAAAGTCTTACTGTCACATCCAATGCTCCCACAGTTACCTGGACTTCAGCTTTGTACCTGATTTTGGTGTCACTGCCTGGGAGGAATCAAACAGATCAAATGAATTATCACTTTCCATGGGATATTTGTCACCATCTACAAAATGCAAAACACGAGAACTGTTAGTTTCACTGTTGTCAGCATTCAAGAGAGAACTGAAAGAGAATACAGTCAAGCCCCTCACATTCACTTATCCATACACACACAGCATTCCTTCAAATCTTCACTGGGCCTCTGTCCTGCCAAGCCCACCTTTGTGGGACACCAGGGAGACAGAGTGACCAGGCCCAGTCCATTCCCTAGAAAAACTCTCAGCAGAAAAGTAAATAAGCAATTTTATTTTAGTGTGATCAAGGACAAGGGAGGGAAACACAGGCTGTTGGGGCTCAGGTGAGGGGCACTACCCCCAACTTGGCTTCCCAAAGGCTAATACCCGTTTTAAAACCTTATGTTTTAAGACTGATTGTGACTGACCTATGGTAAGAAGGAGGGAAAGAAATGCCAGGCAGCACAATGGGCAGGTGAGAGGCAGACAGTGGGACAAAGAGTGGAATCATCGCTCAGGGAGAAATAAGCAGTTCATAGACCCAAGGCCCGGGTGCAGGGAAGGACAAAGTAGAATGCAAGGCCAGAACCAAGAGGACTGAGGGGCCCACTCAAGGGCTTTGGGCAAGGCAATGTCAAGCTGAGGTCTGTATTTTGTACTGAAAGAGTAAGTCTGGAGGCTGCCACACTAACCTAAGCTAGAGATGAGAGTAACCCACAATAGGATCTGGGGGGTGATGTATTTGCAACACTGTAAGGAGGCAAAACCAATAGATGCTGTACAGATGACCTGTGCAACACGTTATAATTTGGAAAGCACTTTCACATATGAAAAGCTATTGGACTCAATAGCTCAGTGGGCAAAACACACTGTAATTCAGATTTCATGGAAGGGGAGACCAAGGGGCAGAGATAGAAAGTGATCTGTCCAGCATAACCCAGCAT | CGTGCAGTCTTGAAAAAGATTTTAGACAAGCAAGCCTTAACATGCAGTATAAATCTCCAGACTGTAGGGCTTCTGTTTCACACGCTGAGCGAAAGCCTGGTACCACATAACACCAATTTATTGTTCTTAAAGACTGGTGAATTGTAGATTATGAGAGAATTTCAGTGGTGATCTTAGCCCAATCAATAACCATGATTAATAACCACCATGGTTAATAACCACCAGCATTAACTACAGTTACTACTCCAAGTAAAGGGTCTGTGGGAGGGCCATTCTTACTGTTTGGCGACCCACAGAGACTCGCCCAGAGAAAATGACACCAACAGCAAGCAATAAATGGTTTGCCTTTACTGGTCCCTGTTAAATGGCCCTGCTGTAGTGAATATGATATCAGGGTCTTGTACTGCTGGCAGAGCAAACTCAAATTGGGCGGTATCAAGGGCACAAGAAAATTATGTATGTGACTCAGAAAAGGGGAAATACAAGCCCAGAAATTCGAGACCACCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAAAATAAAAAATTAGCTAGGTGTGGCAGTGCACACCTGTAGTCCTGGCTACTCAGGAAGCTGGGATGGGAGGATTGCTTAAGTCCAGGAGGTCAAGGCTGCAGTGTGCCATAATCATGCCATGTACCCCAGCCTGGACAACATGGCCAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAGAGAAAAAAGACACATCCTTTTTAGATATCAAAGTAACAAAAAAATCATTATAAATGAAAATATCTGGGCTGGGTGCAGTGGCTCACGCCTTTATCCCAGCACTTTGGGAGGCCGAGGCAGTTGGATCACCTGAAGTCAGGAGTTCAAGACCAGCCTGCCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTAAAGAGGCTGAGGGAGGAGAATCACTTGAGCCCAAGAGGAGGAGGCTGCAGTGAGCCAAGATCGCACCACTGAACTCCAGCCTGAGCAACAGAATGAGACTCCATCTCAAAAAAAAAAAATTTTATATATATACTGCCAGGCATGATAGCTGACGCCTGTAATCCCAACACTTTAGGAGGCCAAGGTGGGAGGATCATTTGAGCCCAGGAGTTCGAGGCCAGCCTGGGCAACAGAGTGAGACCCTGTCTCTAAAAAAAATTTTTTTTAAAAGCCAGGTGTGATGGCACACGCCTGTGGTCACAGCTACTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCTAGGAGGTGGGGTCGAAGCTACAGTGAGCCATGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCTAGATCCTGTCTCAAAATAAAAAAAACACAACAACAACAAAACCTCAACAAAAACAAAAATGTAGTGAGACAAACGTTCATGAACAGAGATAGAATTGTTTTGCAAAGTAATGGAGCAACAGTTATCATCAAGAGCCCTAAAAAGTTCACAACCTTTGAACTAGTAATTCCACTTCATAATGGGCGACAGCCAGGTGGATGGGCAGATGAATGGACAGACACACCAGGGTGCAGATGGAGAGAAGAATGGATGAGAGACCAGATGTACAGAGGCCGTCATGGGAACAAGACAGCAGAGCCCATGGAGCAGTTGCAGGAACACAAGGCACAAACCCCACCAAACACAGCCACCACCAATAGTTCCCCACACTGGACCTGACCTCTGAGCTCTCTGAGGCCACACTTCCTGGTCCCTCTTCTCAGGGTCCTAATGAGGACAACTGCGCCATTTGACTCCCCTCCCCCTTCCACCGACACTCCCAGGGAGCAGCTTGTGCCCCCCAGCTCTGTGGTCAGGTTACCTTTGTTCCCAGCTCTTGACTTGTGGAGCTGGGAGCCTCTTGGGTTTGAATGTCCATTTCAGCAAGGAGCCTCTGTCCCTGGCTGATCTGTTTGAGCAGGGCCTCATAGTCCTCAATCAGGCCCAGGACATGGCGGCCATTCTTGCTGGCCCACAGTGGTGGCCAGTGACCAGGCGGGACACACACGGAGTGCTAGTTGCCGAACTGCCACTGTCGCAGGAGAGGGAGTCCGTGTCATTCCCAGAGAGTGGAGGAGTCTCTGAAACTGTAAAATGAGAAGTAGGATGTAAAATCTGTTTCAGGTAACACTCTGCGTTCAAGACGCTTATGATGTTGAAGCTAGCTAGGAGGGCTAGAAGAGGCCCTCGTGCCCAAATGCCACCCAACACAAGCCCAGAGGGGAAAAGAGGCACGCTCCTGGACCTCTGTATATTACCCCACACTGGGCTTATGAGTCATCTTGTAGGAGAGGCTCAAGTCAACTCAACCAACACTTATCAACCACCCACTCGGCAGAAGACCCCAGATTCACAAGGATGACTCAAGCTGGTGCCTGCATTCCAGTAGCCCACAGTCTGATCAGAACACAGACACTGCAGAAGGTGCAACAGCAGAGTGATGAAGGGCCAGAGCCAGAAAAAACAATTATCTGTGCAGGGAGGGAGAGAACAGGGAAGGCTTCTGAGAAGGAGCAGCATTTGAACTGGATTGAGCAAGTAGCAAGAATTACACGAATGATGAGTCATTCTGACCAAGGACAGCAGCAAAGGCATGTCACAGAGAAATGTGTATTCATGATGAGTCTTGAGGAAACGGGACTTCTACCGGCAAAGAGTGGGACAAAGGGGGTCTAAAAGTCACAGTGAGAGGAAAGTGTGGGCCTGTCTGCAGGATGGTGACCCCTGTGTGGCTACACCAGGTTAAGGGATAAGGCTGGACGGACCCACTGGAGCTGGATCCTGGAGGGCCTTGAAAGCCTCACAAAGGTGGTCACAATTTTAATCTAAGGCAAGAGGGACCCAATGATGTTCTAACCTTGGTAACACCTAGGAGTGGATTAACTGGCTTGAAGGAGAAGATCACCAGCTGGGGATGCTGAGAACTTGAAATCCCAAATCCTTACCAAATACCCTCCTGAGTTGGGACCAGGGACCCCCCTTTTCTGCAAGTTAAAAAGTCTTACTGTCACATCCAATGCTCCCACAGTTACCTGGACTTCAGCTTTGTACCTGATTTTGGTGTCACTGCCTGGGAGGAATCAAACAGATCAAATGAATTATCACTTTCCATGGGATATTTGTCACCATCTACAAAATGCAAAACACGAGAACTGTTAGTTTCACTGTTGTCAGCATTCAAGAGAGAACTGAAAGAGAATACAGTCAAGCCCCTCACATTCACTTATCCATACACACACAGCATTCCTTCAAATCTTCACTGGGCCTCTGTCCTGCCAAGCCCACCTTTGTGGGACACCAGGGAGACAGAGTGACCAGGCCCAGTCCATTCCCTAGAAAAACTCTCAGCAGAAAAGTAAATAAGCAATTTTATTTTAGTGTGATCAAGGACAAGGGAGGGAAACACAGGCTGTTGGGGCTCAGGTGAGGGGCACTACCCCCAACTTGGCTTCCCAAAGGCTAATACCCGTTTTAAAACCTTATGTTTTAAGACTGATTGTGACTGACCTATGGTAAGAAGGAGGGAAAGAAATGCCAGGCAGCACAATGGGCAGGTGAGAGGCAGACAGTGGGACAAAGAGTGGAATCATCGCTCAGGGAGAAATAAGCAGTTCATAGACCCAAGGCCCGGGTGCAGGGAAGGACAAAGTAGAATGCAAGGCCAGAACCAAGAGGACTGAGGGGCCCACTCAAGGGCTTTGGGCAAGGCAATGTCAAGCTGAGGTCTGTATTTTGTACTGAAAGAGTAAGTCTGGAGGCTGCCACACTAACCTAAGCTAGAGATGAGAGTAACCCACAATAGGATCTGGGGGGTGATGTATTTGCAACACTGTAAGGAGGCAAAACCAATAGATGCTGTACAGATGACCTGTGCAACACGTTATAATTTGGAAAGCACTTTCACATATGAAAAGCTATTGGACTCAATAGCTCAGTGGGCAAAACACACTGTAATTCAGATTTCATGGAAGGGGAGACCAAGGGGCAGAGATAGAAAGTGATCTGTCCAGCATAACCCAGCATN | pathogenic | 149,555 |
Considering the genetic mutation at chromosome 9, position 120443670, impacting CDK5RAP2 (CDK5 regulatory subunit associated protein 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases', 'Microcephaly_3,_primary,_autosomal_recessive'] | TCACACACAAATCCTCATCAGACTGCATGTCCCAATTTCTGGTTCTGCAATCTGCTCCTTGTGACTTGAGGTACACTCTTGTATCTGTTCATGATGCAAATACCATAAAGTATGGCATTTCATTTCAGAAAGCAGCTGCTACCTGACCTAAAGGAAGCATTCCTAATACAGTATTTTTATTATACACAATGTTATGATAATTACTCAATAAGAGCCTTGAGGGTGCAGACCGTGTCATCCATGTCTGTTTCTCCAGTATCTAGCACAGGGTCTGCGACAGAGAATGTACTCACCAAGTATTTCTGGCTGAACAAGAAAGAGAAAGAGGAACTGGGGAGGGAGATATCTCTCCATAAGGCTTTTTTTCCAGTGAATCACCCTCCAAGACAAGAAAATATCTTTGCTGTAATAACCTCATGATAATAGAATTTGGTCTGTACTTCATGGCAAGAAGCGTGTTCACTCATGGAAATAAAGATTAGTTCCCAGGACTTTCCTTAAGTAATTATGAGGCATCACTAGTACCCCCATTTTACAGAAGAGGAAGTTGAGGCTTAGGGAGCTTAAGAATTTGCTTAGGGTTCAGGGTAGGTAAGCAGTAGAGCCCCTCCTCAAAGCCTGGCAGTCTGCCTCTAACACTCTGAATGATGCTTCCCGAAGTAACACTCCTGCAATCCAATCTCCTGTACCGCGGTGCATGAGCAAAGAGAGAGAGAGTTCTTAACCCTCAATGTGAAGGCCAAGATGCCTGTAAAATCCTTTATTCACATCCCAAGTATCTGTCAAGGGCCTTGTGAAAAAGAAACAGCAATGAAGATGTCACACGCAGCACCCAGCCTCAGCTGCGCAACAATTAAAAGGTGGAAGTTCAGGCAGATGCAATTCACATACAAAGTTCTGGAAGCACATTCAGAAAAATGAAAGACATTCAGTAATGAAGGGAAGTACTGACAGGGAAAGGGAAGCTGTCGATTAGTTAAGAAGTCTGTATTAATAACTATCAAGAAGAAATCAAAAGATGTCCCCAAGACCATTTATGAATATTTGCATTATAAGAAATACTATAGTTCTACAACTTTCCACAATTCAGCTAAGGGGGACTTTATTGCCTGGTAGAGTAGCTTTCTCCTCAAAGCCCAGAACACGCAGAAGCATGTGACCATGTGTTCACTGCAGTGACTCTGGACCTTGCAAAAGTATACAACAGTGTATATACCACAACTCAGTATTTTTCCAGAGACTGGTGTCCCCATGGCCATCCCATGACAAATTTAGGATTCTTGAGGACAATTATTTCTAACAGAGTGAATTAGATCTGGATTAATAGTGATTTTTTTTAATGAAGGGGGAAAAATATCTAACATAAAAAGAATGTAGGCATTTGTTCATTCTGGTTGAATGAGAACATGAGTATTTGTTATATTATCTTTTGTGCTTATGTATGCTTCTAATACTTCATAATTTTAAAAAGAAAGGAATACAACTTGCCTCTGCCCTCACCCGTATCTCTGCACCTTTTCCACTGATCTGCCTGGCAAACCCCACAAACCCAGTCTCAGCCTCAGGCTCTCTTCTGACCCACTCCTCCTGGGCACACGGACCAACACCAAGCACACCTCAGCAACAGGCAGCCCCGCGCTGAATACTAACAGGCTGTTGGGATGATTGTCTCCTCCGAGCTGTGGGGTCCCTAAGAGCAGGCTGTGTCTTTTCATGTTGAACCACCAGAACCCAGCCCACTGCCTGGTAGAGAAGCATGCTGACACATGGACGGGTGGGTTCTGACATCCTACTGTACCTTGACTCTTCTCCTACTTACCAGCTGGGTGACCCTGGGTCAATTATTTCTTAAAACCTCAGCTTCCCATGTGTTAGACTGGAATGATAATAATGCCCTGAGAGGGCTGCTATGGGCTTAGTAATAATTTTTAGATAAAACATCCAAATGGTGCCTGGCACATGGAAGCTGTTCAATACACACAGGGGCTGAATTCTGACCAATCTCGTAGCTTCTTTGCTGATCACTGTCCATTTCCTTGTCTCTCCAGACAGAAGATGTGGTTTTAATTCCTTTCTGCTCTCCTGGGCTGTCCTGGTAGGCTGCTCCCACAGGGGGCTGAGCTACAGGCAATCACAAAGAGAAAGAAAAATAAATAAAACCGTAAGACCTGAAACTTAGCCAAGCAACTGAGAAGAACACAAAGATACAACAGGGAAAATAAAAACACTGGGGAGGCAAAATGCAATTTATAAGATAAAATTAATCTATCGAGCTGCCATAACAGGACATAAAAAGCATAAATATACTGCAGCTTGTCTGAAATGGTTTAAGTCCAGGCTCTCAAAAAGCTGAGTGAGAAAATGAATTCTATCAATTCGTGCCCATTTTTCCCAAGAAGAGAGAGGCCCTAGGGTCTCCTGGGCAACTGTTTGAGGTAGCACCTGGAGTTGAGGCACTCTGGTGTCTCAGCAAAAAATAAAAACAGTATTGAGTGCAAATGGCAAGCTAGGAGCCAGCATGGTGGCTCATGCCTATAATCCCAGCACTTCGGGAGGCCGAGGCAGGGGGGCCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAATATAGCAAGACCCCCATCTCTACAAAATATAAAAAATTTAAATTTGAATTTTAAAAAATGGCAAGCTATGGGCAAAGTGCCAGGGCCTCTGTTGAGCTGAGTTACCTTTGCCATAAAATCTTTCCTCCATGAAGGTCCCCACAACCCTGTATTGATTTAGTTAACTGCCACCTCCCCAAGCCCACACCAGATGGGGAGTTCTCAGAAGGCAGAGACTGCATCTGATTTATTTCTCTCCTACCCCCAGTGCATGAGGCTGGAAACATAGCAGGTGCTCAGGGAATGTTCACTGAATGAATGAAAAGATGTCTGGATGATGGTTGAATGGATTAGAAGAAGGTAGATAAGGAGGTGGTAAGGGAAGAGCAATTCTGCCAAAGGTCTTCTTATCTGGAAACCTCAACTATGGTAAACCCAAAAGAAAACTTAAAATTAAATGGAACATACCTTTGGCTATGGATCTTCATAAAATCCATACAAGAAGTATCACATACTAGGCTTTGTGAAACAGTAAAGAACATGGACTTTGAAATTAGGCAGGCTGATTCCCACCTAGCTAGAAAAGTTAGTCACAGTGTGACTGTAGCCAAGTCACTTTATCTCTGAAACTGCTGCCTTAACTATAAGATGGTAGTAATTTCTGTATCTGCCTCAAAGGACTGTTGAGAGAACCCAATTAGATCATGTACTTAGAGTGTATAGCAAGACTCAGTAAATAATAGGTGCTTGTTTTATTAATACCACAGTATGTCCAAGACTCCAGAGTCATCTCCAATCCCTGACCCACTCTGGAAATCCTCTAATCTGATGCAACCTCCTGCCCTGGTACTCATTTCCTTCGTTGGCAAGTCCCAAAGAGCATCAATATCCTCTCTGAACATTCATCTCTCCCCATCACTCTAAGTGAACTTGGGATGACCCCAAGGACACTGCTTCTCCCGCAGCCTTCAAAGTTGTGGTCATTTCTTTCCCATAGCTCTCATATCATGGGCCCAAAGTGTGTAAGTGTCTTTGCTCCTCGCTGCCACTTCTACATCATTCTCTCTCTTACCTGAAAATTCCACTTTTGCAGCTCATGCTTCCAGAAGATACCACCAACGACCCCACTTTACTGTAATCATCCATGGTCCCCTGATTCACTGAATCCCTTGAGGTTCGGTGACAATGTGGCTCCTAACTGCCTTCCTTCTCTACATTGCTTTACGGTATAATTCCTCAGGGCTGTCCATGCTTGCTGTCTCCAATCTCTCTCCTCCATTCTCTCTCTGCAACCCATGCCAATCACGCTGCACCCACTCCACGGAAACAGCTCCCTTCAAGTACACCAATGACTTCCACATTGTTAAATCCCAAAGCCAATCCTCAGTCCTTGTCTTACCAGATAGCAATATCTGACACTGCTAATCCCCTCCTTACTCAGCTTCTGGGGAGTCACCCTCTCTTGGATCCCTCCTACCTCACTGGCTGGTCTTCTTGGTCCAACCTTTAA | TCACACACAAATCCTCATCAGACTGCATGTCCCAATTTCTGGTTCTGCAATCTGCTCCTTGTGACTTGAGGTACACTCTTGTATCTGTTCATGATGCAAATACCATAAAGTATGGCATTTCATTTCAGAAAGCAGCTGCTACCTGACCTAAAGGAAGCATTCCTAATACAGTATTTTTATTATACACAATGTTATGATAATTACTCAATAAGAGCCTTGAGGGTGCAGACCGTGTCATCCATGTCTGTTTCTCCAGTATCTAGCACAGGGTCTGCGACAGAGAATGTACTCACCAAGTATTTCTGGCTGAACAAGAAAGAGAAAGAGGAACTGGGGAGGGAGATATCTCTCCATAAGGCTTTTTTTCCAGTGAATCACCCTCCAAGACAAGAAAATATCTTTGCTGTAATAACCTCATGATAATAGAATTTGGTCTGTACTTCATGGCAAGAAGCGTGTTCACTCATGGAAATAAAGATTAGTTCCCAGGACTTTCCTTAAGTAATTATGAGGCATCACTAGTACCCCCATTTTACAGAAGAGGAAGTTGAGGCTTAGGGAGCTTAAGAATTTGCTTAGGGTTCAGGGTAGGTAAGCAGTAGAGCCCCTCCTCAAAGCCTGGCAGTCTGCCTCTAACACTCTGAATGATGCTTCCCGAAGTAACACTCCTGCAATCCAATCTCCTGTACCGCGGTGCATGAGCAAAGAGAGAGAGAGTTCTTAACCCTCAATGTGAAGGCCAAGATGCCTGTAAAATCCTTTATTCACATCCCAAGTATCTGTCAAGGGCCTTGTGAAAAAGAAACAGCAATGAAGATGTCACACGCAGCACCCAGCCTCAGCTGCGCAACAATTAAAAGGTGGAAGTTCAGGCAGATGCAATTCACATACAAAGTTCTGGAAGCACATTCAGAAAAATGAAAGACATTCAGTAATGAAGGGAAGTACTGACAGGGAAAGGGAAGCTGTCGATTAGTTAAGAAGTCTGTATTAATAACTATCAAGAAGAAATCAAAAGATGTCCCCAAGACCATTTATGAATATTTGCATTATAAGAAATACTATAGTTCTACAACTTTCCACAATTCAGCTAAGGGGGACTTTATTGCCTGGTAGAGTAGCTTTCTCCTCAAAGCCCAGAACACGCAGAAGCATGTGACCATGTGTTCACTGCAGTGACTCTGGACCTTGCAAAAGTATACAACAGTGTATATACCACAACTCAGTATTTTTCCAGAGACTGGTGTCCCCATGGCCATCCCATGACAAATTTAGGATTCTTGAGGACAATTATTTCTAACAGAGTGAATTAGATCTGGATTAATAGTGATTTTTTTTAATGAAGGGGGAAAAATATCTAACATAAAAAGAATGTAGGCATTTGTTCATTCTGGTTGAATGAGAACATGAGTATTTGTTATATTATCTTTTGTGCTTATGTATGCTTCTAATACTTCATAATTTTAAAAAGAAAGGAATACAACTTGCCTCTGCCCTCACCCGTATCTCTGCACCTTTTCCACTGATCTGCCTGGCAAACCCCACAAACCCAGTCTCAGCCTCAGGCTCTCTTCTGACCCACTCCTCCTGGGCACACGGACCAACACCAAGCACACCTCAGCAACAGGCAGCCCCGCGCTGAATACTAACAGGCTGTTGGGATGATTGTCTCCTCCGAGCTGTGGGGTCCCTAAGAGCAGGCTGTGTCTTTTCATGTTGAACCACCAGAACCCAGCCCACTGCCTGGTAGAGAAGCATGCTGACACATGGACGGGTGGGTTCTGACATCCTACTGTACCTTGACTCTTCTCCTACTTACCAGCTGGGTGACCCTGGGTCAATTATTTCTTAAAACCTCAGCTTCCCATGTGTTAGACTGGAATGATAATAATGCCCTGAGAGGGCTGCTATGGGCTTAGTAATAATTTTTAGATAAAACATCCAAATGGTGCCTGGCACATGGAAGCTGTTCAATACACACAGGGGCTGAATTCTGACCAATCTCGTAGCTTCTTTGCTGATCACTGTCCATTTCCTTGTCTCTCCAGAAGAAGATGTGGTTTTAATTCCTTTCTGCTCTCCTGGGCTGTCCTGGTAGGCTGCTCCCACAGGGGGCTGAGCTACAGGCAATCACAAAGAGAAAGAAAAATAAATAAAACCGTAAGACCTGAAACTTAGCCAAGCAACTGAGAAGAACACAAAGATACAACAGGGAAAATAAAAACACTGGGGAGGCAAAATGCAATTTATAAGATAAAATTAATCTATCGAGCTGCCATAACAGGACATAAAAAGCATAAATATACTGCAGCTTGTCTGAAATGGTTTAAGTCCAGGCTCTCAAAAAGCTGAGTGAGAAAATGAATTCTATCAATTCGTGCCCATTTTTCCCAAGAAGAGAGAGGCCCTAGGGTCTCCTGGGCAACTGTTTGAGGTAGCACCTGGAGTTGAGGCACTCTGGTGTCTCAGCAAAAAATAAAAACAGTATTGAGTGCAAATGGCAAGCTAGGAGCCAGCATGGTGGCTCATGCCTATAATCCCAGCACTTCGGGAGGCCGAGGCAGGGGGGCCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAATATAGCAAGACCCCCATCTCTACAAAATATAAAAAATTTAAATTTGAATTTTAAAAAATGGCAAGCTATGGGCAAAGTGCCAGGGCCTCTGTTGAGCTGAGTTACCTTTGCCATAAAATCTTTCCTCCATGAAGGTCCCCACAACCCTGTATTGATTTAGTTAACTGCCACCTCCCCAAGCCCACACCAGATGGGGAGTTCTCAGAAGGCAGAGACTGCATCTGATTTATTTCTCTCCTACCCCCAGTGCATGAGGCTGGAAACATAGCAGGTGCTCAGGGAATGTTCACTGAATGAATGAAAAGATGTCTGGATGATGGTTGAATGGATTAGAAGAAGGTAGATAAGGAGGTGGTAAGGGAAGAGCAATTCTGCCAAAGGTCTTCTTATCTGGAAACCTCAACTATGGTAAACCCAAAAGAAAACTTAAAATTAAATGGAACATACCTTTGGCTATGGATCTTCATAAAATCCATACAAGAAGTATCACATACTAGGCTTTGTGAAACAGTAAAGAACATGGACTTTGAAATTAGGCAGGCTGATTCCCACCTAGCTAGAAAAGTTAGTCACAGTGTGACTGTAGCCAAGTCACTTTATCTCTGAAACTGCTGCCTTAACTATAAGATGGTAGTAATTTCTGTATCTGCCTCAAAGGACTGTTGAGAGAACCCAATTAGATCATGTACTTAGAGTGTATAGCAAGACTCAGTAAATAATAGGTGCTTGTTTTATTAATACCACAGTATGTCCAAGACTCCAGAGTCATCTCCAATCCCTGACCCACTCTGGAAATCCTCTAATCTGATGCAACCTCCTGCCCTGGTACTCATTTCCTTCGTTGGCAAGTCCCAAAGAGCATCAATATCCTCTCTGAACATTCATCTCTCCCCATCACTCTAAGTGAACTTGGGATGACCCCAAGGACACTGCTTCTCCCGCAGCCTTCAAAGTTGTGGTCATTTCTTTCCCATAGCTCTCATATCATGGGCCCAAAGTGTGTAAGTGTCTTTGCTCCTCGCTGCCACTTCTACATCATTCTCTCTCTTACCTGAAAATTCCACTTTTGCAGCTCATGCTTCCAGAAGATACCACCAACGACCCCACTTTACTGTAATCATCCATGGTCCCCTGATTCACTGAATCCCTTGAGGTTCGGTGACAATGTGGCTCCTAACTGCCTTCCTTCTCTACATTGCTTTACGGTATAATTCCTCAGGGCTGTCCATGCTTGCTGTCTCCAATCTCTCTCCTCCATTCTCTCTCTGCAACCCATGCCAATCACGCTGCACCCACTCCACGGAAACAGCTCCCTTCAAGTACACCAATGACTTCCACATTGTTAAATCCCAAAGCCAATCCTCAGTCCTTGTCTTACCAGATAGCAATATCTGACACTGCTAATCCCCTCCTTACTCAGCTTCTGGGGAGTCACCCTCTCTTGGATCCCTCCTACCTCACTGGCTGGTCTTCTTGGTCCAACCTTTAAN | pathogenic | 149,590 |
Variant in CDK5RAP2 (CDK5 regulatory subunit associated protein 2), chromosome 9, position 120536474—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Microcephaly_3,_primary,_autosomal_recessive'] | ACTTAGCCCTTATCATCCTGCTCCTCCCTCCACCCCTCCCACCCTGCTGGATGATAAGCTTCAACTCAAACAATGAGATTCCTGGGGAGAGGAACCCAGGCTGTATCACTCCTTCTTACATTCTCATCACCACTGTGCTGAGTAGAAGATGCTCAGGTGATATTTTTTGAATAAAAGGCATAAAGATCCAATAGAACCAATTAACTGACTGCTCAGCATCTGTCAGGACCCTCAGAGGGCCTTTTCTATTCATTCTGTCCCAGGACCTCTTTTCAAACCTATCCCAAACCCTCTCCTTCCCCTTCACAGGCGCCAGGAATTCTGCCAGTCTTTTCTTCTTTGGTGGCTGCTCACATACTCTATTCCCTGGGTCCCCTACTCCCAGTTTAACTGCTCCAGACCTGTAGCTCCCCCAGGAAGACAAGCCCATAAGCCTTCTAAGGGCTTCACTGCTGATGGGTTGGGAGAGATACAAGGGAACACGGAAATGATTCTGTGGAATTCTCACAGTCTAGTGGCTCCATGGGTGATGCCTGGAAAGGCCAGTACTCTGGGGGGAGGCTCAGTAGGAGGGCACTTCCCAGGGAAGTTTCTCTTCCTAGCCATGAAGTCAAGAAAAACACAAGGTGTCAAATGGGTAAACTGAGATGATATATATTCATTCCACTGAGGTCCATGGGGAACCCAGTTTCCTCACTCACCTTGAAATTATTAATCATAAAACTTTCATTTTCCAGATCAAAGCTAAGAAAAGATTGCAGAGCACCAAATAAATGCTCGCACCTCCAAATGCTGAAGCTAGGGCACTTACATGGAGGCATGGGCTCTCCCTCTGGGTCTATTTACTTTTCTTTTACAGATAATCCTATCCCAAAGATTAGGATTTGCTCATCTGATTTTCCAAGCAGCAGACTCCAATCTCCACAGGTGGTACCAAGGCAGAAGTAAAAGCAGACAAGAGTTGAGGAACCCGGCAGTTAGGCCAAGCACCTAAACAACACAGTAGTGCTAGTCAGTGCAGAGGGCAGGCACCAAATGACCAAGAAAAAGGAGCCAGTCAGTATCCTCCGAAACAGATCATTTGCTTTAGAACAATTTCTATCAAATTCCAAACAAGCTCGGCTCTTCAACAGATAGGTCACAGGTTAGCCAGCAGTTGGACTTATATTTAGTTAACCTTCCATTTAGTGACTGCCAAATAAGGCAAGAGTATCATAATGTAAGGTTTATGGTAAGGAATAAACTCAACTTTCTCCTGACAAGTTTTTACCAAAAATTTCGTTGCAAAATATGATGGGCACTAAAGACTGCCTAAAGGACATATCAACTACCCAATAAACTAGAAGGCACCCATTTTATCGTGGATCATCAAAGAGCTCTGTATTTGGTCTACACTGTTTTATTTTTGACACCTTGCCCTGTACTCATTTGGGCCTTGGGCTGCATTAAAAGATATAATGGAATATAAGTCACACGAAATTCACTGTTATTTCTTGTGGGGGCAGTCACTCACTGTTCACTTTGGGAAGAACCACAAGAGAAATTTCCTCTGATAGTGCCAAGTAAAACTGGGCTTCTCCTGAGTTACTAGCTTGTTTTACCTCATTTGCAATGTAAATCTTGTCTCTACCCTTTTTCCTTTGGCTCCCAGGAAGCTCATGGGCAAAATCAAATGCTAACTTTAGTATCTGAGTGGAACTTTTTAGCATGAATGTCTATCAGTAGACAATCTCTGACCTCATATGACTATGCTATTCCTTTTCTCTTCCTCCTGATTTTATCCCTAGTTTTCTATCTAACTGTGTTGGACTTGTTCCCATTAGTCACTCAAGTCCTATGGGAAACATGGGGAGAAGGGAGGGATAAAAGAGAATAAAAGGAAACAATTCTTTCCCCACGCTGCCAGATAATGTGATGTCAGGGTATGACAGGGACAAGAGCCAGACCTGTCTTTCTCATCCAGGACCAGAGCCATCGCCAAGTCCCCCTCGTGCATCTTCTTCATCTCTGAAAGCTTGCTTTCCAAACGCAACCGAAGAGCCTTCTCCGTCTCTGTCCCTGCAAAGGCCTTTTCCAGTTCTGCCTGGGCGGCTGTCACATCCTAGAGTCAAATTAAATGCATTTGATGCAATTTTTCAATACAATTGGGAACATTTTGAAAGGAAATTGGATTAAAATATAAATATTTATGACTTCTTCTCCAGCACATTTCCCCTCCCTGAATTGTACTATACATGGAGAGAATCAGTAATAAATACATTTGCCAGCCATTTTTCCCTCTTGTATCCTGAAGCATAACAGGCATTTCCAATGGAAAAGACTCAACTCTGTAAGAACTGTATTTTTGGTTTTGAAAAATCAGATCAATATTTACAGCTTCAAGAAGAACAAGAAGAAATGCTCCTCTCAATAATAAACATACATAAATTCCAAAGAGTCACCATAATTTCCATACAAATTCATCCTACACACCCCCACCGCCCTATTTTTTTAAGATAATGACTGAACAATTCTAAAGTACATTTTCTGTATCTCCAAGGTGATTCAGTTGGGAAAAAAAAAAAAAAAACAACTGTATGTTCTTCCCAAGAGGTCAGAGAAGCCAACGAGGAAATTATCTAAATCATGCAGGCAGTGTCTGTGTTAGGGAAAAAGGCCCTTGTGGTCATGAAAGTGACCTGGGAGTAGATATGAATCTCCAACTACTCACACCAACTGCCTCCAATTACATCACAAAGATAAACATCAAACAGAATTGGGTTCAAAACCCAGCTCTCCCACATACTTGCTGTGTGACCTCAGGCAGTTGCTAAACCTCTCTGAGCCTGAACTTCCCAATCTATAAAATAGGGATAACCACCGTCCCATCAAAGAGCTACCATGAGTCTCTATCAAATGCTTGTTCCATCACAGGAAGCTCAGAAAAAAATGTTGGCTCCCTCCTCCCTGCCCTTGCCCTCCACAGTGCCGCCCCCACCACTATCTCCCCAAGGGGCTTCCTGTCACTCTCAATGAAAGCCGAAAAAAATCATTTATCATACTCTTAGACAACAACAAAGCCTGTTATTTACTAAATGCCAGGCTCTGAGCAAGGAGCTTCATTCGTATTATCTCCCATCTGCATCCAACCCTAAAAAGTTATATCCTAAGACAGTAGAGTATAGCAGTTTAGAATGCAGGTCTGAAGCCAGACTACCTGATATTTACTGTCTGTGTGACCCTGAGCAAGTGACTTAGCCACACTGTGCCTGTTTCATCATCTGTTTAAAAAAAAAAAAAAAGAAAGAATGAAAAAGGATGACAGAAGTATTCACCTCACAGAGGTTTACTGAAAAGATTACCTTCCTGTCTATAAAGAGCTTAGAAGGATGTCTCACACAATGAAATGGTAAGCCCACAATAAATTGTTAATACCACAGTTATTATTACAATTACCACTGCAAACCAGGTATCACTGTCATTTTACAGATGACAAAGCAGAAGCTCAGGGTAGGCAAATACCTTATCCTAGGTGATAAAGCTAGTAAGTGACAGAGCAGAGACCTGTCACTCCAACACATGGGAAAGCACTTACAGGGAAAAACAAATGAACCAGTAAGTTAGATCTCATAATTACATTTTCGCTAAAATTCAGAATTTGTGATCAGGAGAACCTTCATGTGGTTCTAGTTCTACCACTTCTGACCTATACTATGTTTCTAACCCCTCCAAGCCTGTTTAAAACACAGGTATTTTGGGCCTAATAGCTACATAACCCCAAGACGACAATTTAAGGGCTGATATGAACATCATAAATGGAAAATTGTAAACTGCAAAATACAGTGCCTGCTCTTTGTATCCAGAAGTGCTTTTGGTGCCATTTCTCTCCATATCTAAAAAGAACCAGAGTTTCAGGTAGAGAAACTGTGATAAAACAAAAGATTTCAAAGACCAAGAATTAAATAGTATTACTTAATACTAGCTTAAAATAGATAAGGAGACAGGATTTTTTAGCCAGGAAACATCCTGACTCCCATCACAGTGACAGGAAATACCTAACTGAGAGTAAATAGAAGAAGTGACATGCAGTGCCTAATAGAGAAAAGACATTCCATGA | ACTTAGCCCTTATCATCCTGCTCCTCCCTCCACCCCTCCCACCCTGCTGGATGATAAGCTTCAACTCAAACAATGAGATTCCTGGGGAGAGGAACCCAGGCTGTATCACTCCTTCTTACATTCTCATCACCACTGTGCTGAGTAGAAGATGCTCAGGTGATATTTTTTGAATAAAAGGCATAAAGATCCAATAGAACCAATTAACTGACTGCTCAGCATCTGTCAGGACCCTCAGAGGGCCTTTTCTATTCATTCTGTCCCAGGACCTCTTTTCAAACCTATCCCAAACCCTCTCCTTCCCCTTCACAGGCGCCAGGAATTCTGCCAGTCTTTTCTTCTTTGGTGGCTGCTCACATACTCTATTCCCTGGGTCCCCTACTCCCAGTTTAACTGCTCCAGACCTGTAGCTCCCCCAGGAAGACAAGCCCATAAGCCTTCTAAGGGCTTCACTGCTGATGGGTTGGGAGAGATACAAGGGAACACGGAAATGATTCTGTGGAATTCTCACAGTCTAGTGGCTCCATGGGTGATGCCTGGAAAGGCCAGTACTCTGGGGGGAGGCTCAGTAGGAGGGCACTTCCCAGGGAAGTTTCTCTTCCTAGCCATGAAGTCAAGAAAAACACAAGGTGTCAAATGGGTAAACTGAGATGATATATATTCATTCCACTGAGGTCCATGGGGAACCCAGTTTCCTCACTCACCTTGAAATTATTAATCATAAAACTTTCATTTTCCAGATCAAAGCTAAGAAAAGATTGCAGAGCACCAAATAAATGCTCGCACCTCCAAATGCTGAAGCTAGGGCACTTACATGGAGGCATGGGCTCTCCCTCTGGGTCTATTTACTTTTCTTTTACAGATAATCCTATCCCAAAGATTAGGATTTGCTCATCTGATTTTCCAAGCAGCAGACTCCAATCTCCACAGGTGGTACCAAGGCAGAAGTAAAAGCAGACAAGAGTTGAGGAACCCGGCAGTTAGGCCAAGCACCTAAACAACACAGTAGTGCTAGTCAGTGCAGAGGGCAGGCACCAAATGACCAAGAAAAAGGAGCCAGTCAGTATCCTCCGAAACAGATCATTTGCTTTAGAACAATTTCTATCAAATTCCAAACAAGCTCGGCTCTTCAACAGATAGGTCACAGGTTAGCCAGCAGTTGGACTTATATTTAGTTAACCTTCCATTTAGTGACTGCCAAATAAGGCAAGAGTATCATAATGTAAGGTTTATGGTAAGGAATAAACTCAACTTTCTCCTGACAAGTTTTTACCAAAAATTTCGTTGCAAAATATGATGGGCACTAAAGACTGCCTAAAGGACATATCAACTACCCAATAAACTAGAAGGCACCCATTTTATCGTGGATCATCAAAGAGCTCTGTATTTGGTCTACACTGTTTTATTTTTGACACCTTGCCCTGTACTCATTTGGGCCTTGGGCTGCATTAAAAGATATAATGGAATATAAGTCACACGAAATTCACTGTTATTTCTTGTGGGGGCAGTCACTCACTGTTCACTTTGGGAAGAACCACAAGAGAAATTTCCTCTGATAGTGCCAAGTAAAACTGGGCTTCTCCTGAGTTACTAGCTTGTTTTACCTCATTTGCAATGTAAATCTTGTCTCTACCCTTTTTCCTTTGGCTCCCAGGAAGCTCATGGGCAAAATCAAATGCTAACTTTAGTATCTGAGTGGAACTTTTTAGCATGAATGTCTATCAGTAGACAATCTCTGACCTCATATGACTATGCTATTCCTTTTCTCTTCCTCCTGATTTTATCCCTAGTTTTCTATCTAACTGTGTTGGACTTGTTCCCATTAGTCACTCAAGTCCTATGGGAAACATGGGGAGAAGGGAGGGATAAAAGAGAATAAAAGGAAACAATTCTTTCCCCACGCTGCCAGATAATGTGATGTCAGGGTATGACAGGGACAAGAGCCAGACCTGTCTTTCTCATCCAGGACCAGAGCCATCGCCAAGTCCCCCTCGTGCATCTTCTTCATCTCTGAAAGCTTGCTTTCCAAACGCAACCGAAGAGCCTTCTCCGTCTGTCCCTGCAAAGGCCTTTTCCAGTTCTGCCTGGGCGGCTGTCACATCCTAGAGTCAAATTAAATGCATTTGATGCAATTTTTCAATACAATTGGGAACATTTTGAAAGGAAATTGGATTAAAATATAAATATTTATGACTTCTTCTCCAGCACATTTCCCCTCCCTGAATTGTACTATACATGGAGAGAATCAGTAATAAATACATTTGCCAGCCATTTTTCCCTCTTGTATCCTGAAGCATAACAGGCATTTCCAATGGAAAAGACTCAACTCTGTAAGAACTGTATTTTTGGTTTTGAAAAATCAGATCAATATTTACAGCTTCAAGAAGAACAAGAAGAAATGCTCCTCTCAATAATAAACATACATAAATTCCAAAGAGTCACCATAATTTCCATACAAATTCATCCTACACACCCCCACCGCCCTATTTTTTTAAGATAATGACTGAACAATTCTAAAGTACATTTTCTGTATCTCCAAGGTGATTCAGTTGGGAAAAAAAAAAAAAAAACAACTGTATGTTCTTCCCAAGAGGTCAGAGAAGCCAACGAGGAAATTATCTAAATCATGCAGGCAGTGTCTGTGTTAGGGAAAAAGGCCCTTGTGGTCATGAAAGTGACCTGGGAGTAGATATGAATCTCCAACTACTCACACCAACTGCCTCCAATTACATCACAAAGATAAACATCAAACAGAATTGGGTTCAAAACCCAGCTCTCCCACATACTTGCTGTGTGACCTCAGGCAGTTGCTAAACCTCTCTGAGCCTGAACTTCCCAATCTATAAAATAGGGATAACCACCGTCCCATCAAAGAGCTACCATGAGTCTCTATCAAATGCTTGTTCCATCACAGGAAGCTCAGAAAAAAATGTTGGCTCCCTCCTCCCTGCCCTTGCCCTCCACAGTGCCGCCCCCACCACTATCTCCCCAAGGGGCTTCCTGTCACTCTCAATGAAAGCCGAAAAAAATCATTTATCATACTCTTAGACAACAACAAAGCCTGTTATTTACTAAATGCCAGGCTCTGAGCAAGGAGCTTCATTCGTATTATCTCCCATCTGCATCCAACCCTAAAAAGTTATATCCTAAGACAGTAGAGTATAGCAGTTTAGAATGCAGGTCTGAAGCCAGACTACCTGATATTTACTGTCTGTGTGACCCTGAGCAAGTGACTTAGCCACACTGTGCCTGTTTCATCATCTGTTTAAAAAAAAAAAAAAAGAAAGAATGAAAAAGGATGACAGAAGTATTCACCTCACAGAGGTTTACTGAAAAGATTACCTTCCTGTCTATAAAGAGCTTAGAAGGATGTCTCACACAATGAAATGGTAAGCCCACAATAAATTGTTAATACCACAGTTATTATTACAATTACCACTGCAAACCAGGTATCACTGTCATTTTACAGATGACAAAGCAGAAGCTCAGGGTAGGCAAATACCTTATCCTAGGTGATAAAGCTAGTAAGTGACAGAGCAGAGACCTGTCACTCCAACACATGGGAAAGCACTTACAGGGAAAAACAAATGAACCAGTAAGTTAGATCTCATAATTACATTTTCGCTAAAATTCAGAATTTGTGATCAGGAGAACCTTCATGTGGTTCTAGTTCTACCACTTCTGACCTATACTATGTTTCTAACCCCTCCAAGCCTGTTTAAAACACAGGTATTTTGGGCCTAATAGCTACATAACCCCAAGACGACAATTTAAGGGCTGATATGAACATCATAAATGGAAAATTGTAAACTGCAAAATACAGTGCCTGCTCTTTGTATCCAGAAGTGCTTTTGGTGCCATTTCTCTCCATATCTAAAAAGAACCAGAGTTTCAGGTAGAGAAACTGTGATAAAACAAAAGATTTCAAAGACCAAGAATTAAATAGTATTACTTAATACTAGCTTAAAATAGATAAGGAGACAGGATTTTTTAGCCAGGAAACATCCTGACTCCCATCACAGTGACAGGAAATACCTAACTGAGAGTAAATAGAAGAAGTGACATGCAGTGCCTAATAGAGAAAAGACATTCCATGANN | pathogenic | 149,616 |
Variant in gene CDK5RAP2 (CDK5 regulatory subunit associated protein 2), located at chromosome 9 position 120536505: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Microcephaly_3,_primary,_autosomal_recessive'] | ACCCCTCCCACCCTGCTGGATGATAAGCTTCAACTCAAACAATGAGATTCCTGGGGAGAGGAACCCAGGCTGTATCACTCCTTCTTACATTCTCATCACCACTGTGCTGAGTAGAAGATGCTCAGGTGATATTTTTTGAATAAAAGGCATAAAGATCCAATAGAACCAATTAACTGACTGCTCAGCATCTGTCAGGACCCTCAGAGGGCCTTTTCTATTCATTCTGTCCCAGGACCTCTTTTCAAACCTATCCCAAACCCTCTCCTTCCCCTTCACAGGCGCCAGGAATTCTGCCAGTCTTTTCTTCTTTGGTGGCTGCTCACATACTCTATTCCCTGGGTCCCCTACTCCCAGTTTAACTGCTCCAGACCTGTAGCTCCCCCAGGAAGACAAGCCCATAAGCCTTCTAAGGGCTTCACTGCTGATGGGTTGGGAGAGATACAAGGGAACACGGAAATGATTCTGTGGAATTCTCACAGTCTAGTGGCTCCATGGGTGATGCCTGGAAAGGCCAGTACTCTGGGGGGAGGCTCAGTAGGAGGGCACTTCCCAGGGAAGTTTCTCTTCCTAGCCATGAAGTCAAGAAAAACACAAGGTGTCAAATGGGTAAACTGAGATGATATATATTCATTCCACTGAGGTCCATGGGGAACCCAGTTTCCTCACTCACCTTGAAATTATTAATCATAAAACTTTCATTTTCCAGATCAAAGCTAAGAAAAGATTGCAGAGCACCAAATAAATGCTCGCACCTCCAAATGCTGAAGCTAGGGCACTTACATGGAGGCATGGGCTCTCCCTCTGGGTCTATTTACTTTTCTTTTACAGATAATCCTATCCCAAAGATTAGGATTTGCTCATCTGATTTTCCAAGCAGCAGACTCCAATCTCCACAGGTGGTACCAAGGCAGAAGTAAAAGCAGACAAGAGTTGAGGAACCCGGCAGTTAGGCCAAGCACCTAAACAACACAGTAGTGCTAGTCAGTGCAGAGGGCAGGCACCAAATGACCAAGAAAAAGGAGCCAGTCAGTATCCTCCGAAACAGATCATTTGCTTTAGAACAATTTCTATCAAATTCCAAACAAGCTCGGCTCTTCAACAGATAGGTCACAGGTTAGCCAGCAGTTGGACTTATATTTAGTTAACCTTCCATTTAGTGACTGCCAAATAAGGCAAGAGTATCATAATGTAAGGTTTATGGTAAGGAATAAACTCAACTTTCTCCTGACAAGTTTTTACCAAAAATTTCGTTGCAAAATATGATGGGCACTAAAGACTGCCTAAAGGACATATCAACTACCCAATAAACTAGAAGGCACCCATTTTATCGTGGATCATCAAAGAGCTCTGTATTTGGTCTACACTGTTTTATTTTTGACACCTTGCCCTGTACTCATTTGGGCCTTGGGCTGCATTAAAAGATATAATGGAATATAAGTCACACGAAATTCACTGTTATTTCTTGTGGGGGCAGTCACTCACTGTTCACTTTGGGAAGAACCACAAGAGAAATTTCCTCTGATAGTGCCAAGTAAAACTGGGCTTCTCCTGAGTTACTAGCTTGTTTTACCTCATTTGCAATGTAAATCTTGTCTCTACCCTTTTTCCTTTGGCTCCCAGGAAGCTCATGGGCAAAATCAAATGCTAACTTTAGTATCTGAGTGGAACTTTTTAGCATGAATGTCTATCAGTAGACAATCTCTGACCTCATATGACTATGCTATTCCTTTTCTCTTCCTCCTGATTTTATCCCTAGTTTTCTATCTAACTGTGTTGGACTTGTTCCCATTAGTCACTCAAGTCCTATGGGAAACATGGGGAGAAGGGAGGGATAAAAGAGAATAAAAGGAAACAATTCTTTCCCCACGCTGCCAGATAATGTGATGTCAGGGTATGACAGGGACAAGAGCCAGACCTGTCTTTCTCATCCAGGACCAGAGCCATCGCCAAGTCCCCCTCGTGCATCTTCTTCATCTCTGAAAGCTTGCTTTCCAAACGCAACCGAAGAGCCTTCTCCGTCTCTGTCCCTGCAAAGGCCTTTTCCAGTTCTGCCTGGGCGGCTGTCACATCCTAGAGTCAAATTAAATGCATTTGATGCAATTTTTCAATACAATTGGGAACATTTTGAAAGGAAATTGGATTAAAATATAAATATTTATGACTTCTTCTCCAGCACATTTCCCCTCCCTGAATTGTACTATACATGGAGAGAATCAGTAATAAATACATTTGCCAGCCATTTTTCCCTCTTGTATCCTGAAGCATAACAGGCATTTCCAATGGAAAAGACTCAACTCTGTAAGAACTGTATTTTTGGTTTTGAAAAATCAGATCAATATTTACAGCTTCAAGAAGAACAAGAAGAAATGCTCCTCTCAATAATAAACATACATAAATTCCAAAGAGTCACCATAATTTCCATACAAATTCATCCTACACACCCCCACCGCCCTATTTTTTTAAGATAATGACTGAACAATTCTAAAGTACATTTTCTGTATCTCCAAGGTGATTCAGTTGGGAAAAAAAAAAAAAAAACAACTGTATGTTCTTCCCAAGAGGTCAGAGAAGCCAACGAGGAAATTATCTAAATCATGCAGGCAGTGTCTGTGTTAGGGAAAAAGGCCCTTGTGGTCATGAAAGTGACCTGGGAGTAGATATGAATCTCCAACTACTCACACCAACTGCCTCCAATTACATCACAAAGATAAACATCAAACAGAATTGGGTTCAAAACCCAGCTCTCCCACATACTTGCTGTGTGACCTCAGGCAGTTGCTAAACCTCTCTGAGCCTGAACTTCCCAATCTATAAAATAGGGATAACCACCGTCCCATCAAAGAGCTACCATGAGTCTCTATCAAATGCTTGTTCCATCACAGGAAGCTCAGAAAAAAATGTTGGCTCCCTCCTCCCTGCCCTTGCCCTCCACAGTGCCGCCCCCACCACTATCTCCCCAAGGGGCTTCCTGTCACTCTCAATGAAAGCCGAAAAAAATCATTTATCATACTCTTAGACAACAACAAAGCCTGTTATTTACTAAATGCCAGGCTCTGAGCAAGGAGCTTCATTCGTATTATCTCCCATCTGCATCCAACCCTAAAAAGTTATATCCTAAGACAGTAGAGTATAGCAGTTTAGAATGCAGGTCTGAAGCCAGACTACCTGATATTTACTGTCTGTGTGACCCTGAGCAAGTGACTTAGCCACACTGTGCCTGTTTCATCATCTGTTTAAAAAAAAAAAAAAAGAAAGAATGAAAAAGGATGACAGAAGTATTCACCTCACAGAGGTTTACTGAAAAGATTACCTTCCTGTCTATAAAGAGCTTAGAAGGATGTCTCACACAATGAAATGGTAAGCCCACAATAAATTGTTAATACCACAGTTATTATTACAATTACCACTGCAAACCAGGTATCACTGTCATTTTACAGATGACAAAGCAGAAGCTCAGGGTAGGCAAATACCTTATCCTAGGTGATAAAGCTAGTAAGTGACAGAGCAGAGACCTGTCACTCCAACACATGGGAAAGCACTTACAGGGAAAAACAAATGAACCAGTAAGTTAGATCTCATAATTACATTTTCGCTAAAATTCAGAATTTGTGATCAGGAGAACCTTCATGTGGTTCTAGTTCTACCACTTCTGACCTATACTATGTTTCTAACCCCTCCAAGCCTGTTTAAAACACAGGTATTTTGGGCCTAATAGCTACATAACCCCAAGACGACAATTTAAGGGCTGATATGAACATCATAAATGGAAAATTGTAAACTGCAAAATACAGTGCCTGCTCTTTGTATCCAGAAGTGCTTTTGGTGCCATTTCTCTCCATATCTAAAAAGAACCAGAGTTTCAGGTAGAGAAACTGTGATAAAACAAAAGATTTCAAAGACCAAGAATTAAATAGTATTACTTAATACTAGCTTAAAATAGATAAGGAGACAGGATTTTTTAGCCAGGAAACATCCTGACTCCCATCACAGTGACAGGAAATACCTAACTGAGAGTAAATAGAAGAAGTGACATGCAGTGCCTAATAGAGAAAAGACATTCCATGAGCACCAGCAGGATGGTTGGAGGGAAGCCAGA | ACCCCTCCCACCCTGCTGGATGATAAGCTTCAACTCAAACAATGAGATTCCTGGGGAGAGGAACCCAGGCTGTATCACTCCTTCTTACATTCTCATCACCACTGTGCTGAGTAGAAGATGCTCAGGTGATATTTTTTGAATAAAAGGCATAAAGATCCAATAGAACCAATTAACTGACTGCTCAGCATCTGTCAGGACCCTCAGAGGGCCTTTTCTATTCATTCTGTCCCAGGACCTCTTTTCAAACCTATCCCAAACCCTCTCCTTCCCCTTCACAGGCGCCAGGAATTCTGCCAGTCTTTTCTTCTTTGGTGGCTGCTCACATACTCTATTCCCTGGGTCCCCTACTCCCAGTTTAACTGCTCCAGACCTGTAGCTCCCCCAGGAAGACAAGCCCATAAGCCTTCTAAGGGCTTCACTGCTGATGGGTTGGGAGAGATACAAGGGAACACGGAAATGATTCTGTGGAATTCTCACAGTCTAGTGGCTCCATGGGTGATGCCTGGAAAGGCCAGTACTCTGGGGGGAGGCTCAGTAGGAGGGCACTTCCCAGGGAAGTTTCTCTTCCTAGCCATGAAGTCAAGAAAAACACAAGGTGTCAAATGGGTAAACTGAGATGATATATATTCATTCCACTGAGGTCCATGGGGAACCCAGTTTCCTCACTCACCTTGAAATTATTAATCATAAAACTTTCATTTTCCAGATCAAAGCTAAGAAAAGATTGCAGAGCACCAAATAAATGCTCGCACCTCCAAATGCTGAAGCTAGGGCACTTACATGGAGGCATGGGCTCTCCCTCTGGGTCTATTTACTTTTCTTTTACAGATAATCCTATCCCAAAGATTAGGATTTGCTCATCTGATTTTCCAAGCAGCAGACTCCAATCTCCACAGGTGGTACCAAGGCAGAAGTAAAAGCAGACAAGAGTTGAGGAACCCGGCAGTTAGGCCAAGCACCTAAACAACACAGTAGTGCTAGTCAGTGCAGAGGGCAGGCACCAAATGACCAAGAAAAAGGAGCCAGTCAGTATCCTCCGAAACAGATCATTTGCTTTAGAACAATTTCTATCAAATTCCAAACAAGCTCGGCTCTTCAACAGATAGGTCACAGGTTAGCCAGCAGTTGGACTTATATTTAGTTAACCTTCCATTTAGTGACTGCCAAATAAGGCAAGAGTATCATAATGTAAGGTTTATGGTAAGGAATAAACTCAACTTTCTCCTGACAAGTTTTTACCAAAAATTTCGTTGCAAAATATGATGGGCACTAAAGACTGCCTAAAGGACATATCAACTACCCAATAAACTAGAAGGCACCCATTTTATCGTGGATCATCAAAGAGCTCTGTATTTGGTCTACACTGTTTTATTTTTGACACCTTGCCCTGTACTCATTTGGGCCTTGGGCTGCATTAAAAGATATAATGGAATATAAGTCACACGAAATTCACTGTTATTTCTTGTGGGGGCAGTCACTCACTGTTCACTTTGGGAAGAACCACAAGAGAAATTTCCTCTGATAGTGCCAAGTAAAACTGGGCTTCTCCTGAGTTACTAGCTTGTTTTACCTCATTTGCAATGTAAATCTTGTCTCTACCCTTTTTCCTTTGGCTCCCAGGAAGCTCATGGGCAAAATCAAATGCTAACTTTAGTATCTGAGTGGAACTTTTTAGCATGAATGTCTATCAGTAGACAATCTCTGACCTCATATGACTATGCTATTCCTTTTCTCTTCCTCCTGATTTTATCCCTAGTTTTCTATCTAACTGTGTTGGACTTGTTCCCATTAGTCACTCAAGTCCTATGGGAAACATGGGGAGAAGGGAGGGATAAAAGAGAATAAAAGGAAACAATTCTTTCCCCACGCTGCCAGATAATGTGATGTCAGGGTATGACAGGGACAAGAGCCAGACCTGTCTTTCTCATCCAGGACCAGAGCCATCGCCAAGTCCCCCTCGTGCATCTTCTTCATCTCTGAAAGCTTGCTTTCCAAACGCAACCGAAGAGCCTTCTCCGTCTCTGTCCCTGCAAAGGCCTTTTCCAGTTCGGGCGGCTGTCACATCCTAGAGTCAAATTAAATGCATTTGATGCAATTTTTCAATACAATTGGGAACATTTTGAAAGGAAATTGGATTAAAATATAAATATTTATGACTTCTTCTCCAGCACATTTCCCCTCCCTGAATTGTACTATACATGGAGAGAATCAGTAATAAATACATTTGCCAGCCATTTTTCCCTCTTGTATCCTGAAGCATAACAGGCATTTCCAATGGAAAAGACTCAACTCTGTAAGAACTGTATTTTTGGTTTTGAAAAATCAGATCAATATTTACAGCTTCAAGAAGAACAAGAAGAAATGCTCCTCTCAATAATAAACATACATAAATTCCAAAGAGTCACCATAATTTCCATACAAATTCATCCTACACACCCCCACCGCCCTATTTTTTTAAGATAATGACTGAACAATTCTAAAGTACATTTTCTGTATCTCCAAGGTGATTCAGTTGGGAAAAAAAAAAAAAAAACAACTGTATGTTCTTCCCAAGAGGTCAGAGAAGCCAACGAGGAAATTATCTAAATCATGCAGGCAGTGTCTGTGTTAGGGAAAAAGGCCCTTGTGGTCATGAAAGTGACCTGGGAGTAGATATGAATCTCCAACTACTCACACCAACTGCCTCCAATTACATCACAAAGATAAACATCAAACAGAATTGGGTTCAAAACCCAGCTCTCCCACATACTTGCTGTGTGACCTCAGGCAGTTGCTAAACCTCTCTGAGCCTGAACTTCCCAATCTATAAAATAGGGATAACCACCGTCCCATCAAAGAGCTACCATGAGTCTCTATCAAATGCTTGTTCCATCACAGGAAGCTCAGAAAAAAATGTTGGCTCCCTCCTCCCTGCCCTTGCCCTCCACAGTGCCGCCCCCACCACTATCTCCCCAAGGGGCTTCCTGTCACTCTCAATGAAAGCCGAAAAAAATCATTTATCATACTCTTAGACAACAACAAAGCCTGTTATTTACTAAATGCCAGGCTCTGAGCAAGGAGCTTCATTCGTATTATCTCCCATCTGCATCCAACCCTAAAAAGTTATATCCTAAGACAGTAGAGTATAGCAGTTTAGAATGCAGGTCTGAAGCCAGACTACCTGATATTTACTGTCTGTGTGACCCTGAGCAAGTGACTTAGCCACACTGTGCCTGTTTCATCATCTGTTTAAAAAAAAAAAAAAAGAAAGAATGAAAAAGGATGACAGAAGTATTCACCTCACAGAGGTTTACTGAAAAGATTACCTTCCTGTCTATAAAGAGCTTAGAAGGATGTCTCACACAATGAAATGGTAAGCCCACAATAAATTGTTAATACCACAGTTATTATTACAATTACCACTGCAAACCAGGTATCACTGTCATTTTACAGATGACAAAGCAGAAGCTCAGGGTAGGCAAATACCTTATCCTAGGTGATAAAGCTAGTAAGTGACAGAGCAGAGACCTGTCACTCCAACACATGGGAAAGCACTTACAGGGAAAAACAAATGAACCAGTAAGTTAGATCTCATAATTACATTTTCGCTAAAATTCAGAATTTGTGATCAGGAGAACCTTCATGTGGTTCTAGTTCTACCACTTCTGACCTATACTATGTTTCTAACCCCTCCAAGCCTGTTTAAAACACAGGTATTTTGGGCCTAATAGCTACATAACCCCAAGACGACAATTTAAGGGCTGATATGAACATCATAAATGGAAAATTGTAAACTGCAAAATACAGTGCCTGCTCTTTGTATCCAGAAGTGCTTTTGGTGCCATTTCTCTCCATATCTAAAAAGAACCAGAGTTTCAGGTAGAGAAACTGTGATAAAACAAAAGATTTCAAAGACCAAGAATTAAATAGTATTACTTAATACTAGCTTAAAATAGATAAGGAGACAGGATTTTTTAGCCAGGAAACATCCTGACTCCCATCACAGTGACAGGAAATACCTAACTGAGAGTAAATAGAAGAAGTGACATGCAGTGCCTAATAGAGAAAAGACATTCCATGAGCACCAGCAGGATGGTTGGAGGGAAGCCAGANNNNN | pathogenic | 149,618 |
Classify the chromosome 9 variant at position 120997788 affecting gene C5 (complement C5) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | ATTGTTGTGTCTCAGTCATTCAGATTATAGTAGTTGTACTATAATGCTATCAAGAAAGATAGTGATCTAAGAAGTGGATACTTTTTTTTTTTTTTTTTTGACACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGTAACCTCCACCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAATAGCTGGGACTATGGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGGTAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCAGAAGTGGATACTACTGATTTTAGACAATTCACTTTCTGAAAAATAGTGTTTTAAGTTACATACACACTTTAACTTCTAAAGCAAAAGATAACATATAAAATAAAAAATCATTTTGCCTACCATAAATACCCCTAGGATCCAAAGTAACACCAGAATAGCTTTCCCTTTTGACACCTTCTGGCTAAAATAAAGGCAGAAAACATTCAGTTAAAAACATAAGTTTATATAACCTGAATTCCCTGGATCAACTTTTCTGGACCACTTTTCAAACTAAAAAATTATTTTTCTTGGAAAAGGCAAACTATGTATAAATACTTACATGGATATAAGCAGCAATAAGATTTTATGGCTATTTGCATATTGACCAGAGCAAATGCTTAAAAAGAAGTTATTTATAAGCCAGATAATTGTTCTAAGTGCTTTATATGTATTAACTCATTTAACCTCTAAAAACCTCTATGAGGTTGGTGCTGTTATTACTCCCATTCGACAGATGAGGAGACTGACACACATGGAAATCAAGTAACACTGTCACACTGCTAGGAGGTGATGGAGCCAAGATTCAAGGCCCAGCAGCCTCGCTCCAGAGACTGCATGGAACCACAGTGCAAGGATGCATGGGAATGTGCTTTGCACAAAATAAGTCGGTACATGTTTACTGAAGTGAATTTCATAGCTGAAAACAGAGAGTGAAGAGCCAGGAAATCCAGTCTGTCATTAATTGGCCATATGACCCTTAGCAAGAATCTTAGTCCTTTAAAAGTACTATTATTTTTAATTGGTAAATCATACTTATATAAAATATTAAAATTATATAAAAATATTAAAATTACATAAAAATATTAATGTTAATAGCGTGAATACAATTAACAGACTGTGGGTAAATTGTACTTAACAAATTATACTTTTCTTCTTTTTTGGGACTGTTTATTTGTTTATACAATGGAAAGTTTTCTAGACTGCAAGTTCTTTAAATTCAAGGGCCATGTCTTATTTATTGTTTTATCTCCAGTTCCTTGCATAATGTCTGGCACATAGATTTCAAGACACATTTTCTGAATGTATTAAGGGGAAAAAAAAGCCTGTGTACCAATTGTACCTGTATACCAAAAAAAGACGTGTACCAATTGTTAAAATTAGATATCTCTGGGTATGGGAATTATTGATGATTTTTATTTATCTGTCGTTTTTCAGTATTTTATATTTTCTACGAAACAAATATTGTTTTATTAAAAATTTTTAAGCACGATTTCAGACTTACAGAAAAATTGCAAGAATAGTACAAAAAAAATCTGGAATAACCTCCATCCAGTTTCCTTAATGCTTAATGTTTCGTTAAATTTACACTATTGTTTCTCTCCCCCCCCTTTCTGTGTCTCTCTTTTGCAATAATTTAAGCATAAGTTATTGAAGCATGTTTTTCTTACCACCACTCGTAATGTTTTTACTAAGATTTCTTTTCCAAACCAAGTCTCCAGTGAAAAATTGATGTTGTGAAGGCCAATTTCCAGAGGAAGCACAGTGAATGTCACCAAGTGACTGGAGGAGCCCTCTACTTTCTGGCGCACACATTTGGAGGACTTTGTGCCCTGATGATCAATGACTGGGCTTTCCGAAGTGCAGATTCCCTCCACAGCAGACATTTTAACACAGAACTGAAATACAAGTGAAGAATTATATCAAAATACATTTTTTTTTTTTGAGACAGAGTCTTGCTATGTCGCCCAGGCTGGAGTGCAGCGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGGCACGGTTTCTCCATGTTGGCCAGGCTGATCTCGAACTCCTGATCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTACTGGAATTACAGGCATGATGCTGTAATCCGTGCCCAGACTCGAAATACTTTATCTCTAAAAAAGTTGACCTTGATTATGCTTGTCTGGACACAAACTCTCCACTTTAACAATGTTAAAATAATCCCTTAGATTCTAAGGCACAGAAGAAAGTTCATTTCAGATTTCCTAACATAGACACACAAGTTGCCGTAGAGTTTAGCAATGCAAACAGATGTCTAGAAAAGTCAACACTGTCTCAGAAACATCTTACCTTTCTTAGACTGTTACGTACTAAATTGGGTACAGAGCTCATGCTGTTGTGATAGCACTTATTACCCTGTCTCTTTACATGTTTGTGTTTCAGATAGTGGGAGCCTTAGGCTCAGGTACTTTTTCATTTTCATCTTATTCATTTTTGTATCTTTTAGCTCAGCCTCTGGTATTCAGTAAATGATGGGTTTCATCAAAGACTGAAAATTCCCTATATCGGCATTCAAGGCCCTGCCCATTATGTCCCCAGCTTACTTTTCTAATTTTATCAACTTCCCATTTGTACCCCATTTTACAACCAAACTCTGGCTCCAGAAAGACCTGGATTCAATTTTTGGCATTCCTCTTATTAACTGGTGATGGAAACTGGTTGCATGAACTCTCTAATCCTCCATTTTCTCATCTTTGTAATGGGAATAATAATAGTGCCCACTGACTTCTGGCTCAAATAGTAAACATTTTTCATCTTCCCTCCAAATTCTGGTGAACTGATAGAATTGAGAACTATACCCAAAATAATAAATCCATAAAATCCAGAATAAGTCAAGCAGGTAAACAAAAGAGAGCACCAGCTATTCAACCACTAATTTTGAGGAATTTCTTGAAAACAGAAAGTTCCTTTTCCTTCTTAACTATCTTCTTGGGAGACAACCACCAGGGTGGGAGAAGCCAGAGCAAAAGACTATTGGATCACCTGCGGCCAATGATTTCCTTAGAACAGCAGGGGAGGGTGGGGAAGGATAGATATAGAAGAGTCATTTAATACAATTCAGCATAATTGCATTACAAAAACTCTTAGTAAATTGAGACTAAAAGGAACTTTTGAAACTGATAGAAAATATAAAAAAAAAAGTGGTTCTGGTTTCAGTAATAGCCAAATAGCTTATATTGGGCAACCTTTCTGTAAAAATAACCACAAACTCTAGACAAGATACATATTAAAACAAACTACCTGCAGATACTAGAGAGTGGGAGGGAAAGTGACACTTGGGAGAAGGGAATGACACTGAATAAGTGTCCCGCTTTTTATAGCTTTACCCTGAGGGCAGGTCCCATTGGTGCCTTGGAGTGGCTAAAACCCCAGTAGAACCTGACATCATACTGGTTTAGGAACTAGAGGACAAAGTAGGGAATAGTTACCACAGCTGAATAGTGAAGGAACTCCAAGTTCTGTGTATAATCCTTGCTCAAACCTGGCTGACCCTTGACCTATGCACAGCACAGATTTCTAGCATCCAGCTAAGGCTAAAAATACTGAACTGAGATTTCAGAGTCTGGAACTGAATCCAGCCAACTGCCTGCTAACACACACACACACACGAAAAATCTTCAGAGGAATGTAATAGAATCCAGAGTCTTTATAATATTTTTATTAATAAAGTAGAAGATTCAATCCAAAATTACTAGATAAAAAGAAATAGGAAAGTGTAACCCACACTCAGGAGGAAAGGTAATTAACAGGAACTAAGCCCAAAATATCACAGATGTACTTGTTTCTTATTTTGATATGATGGAAA | ATTGTTGTGTCTCAGTCATTCAGATTATAGTAGTTGTACTATAATGCTATCAAGAAAGATAGTGATCTAAGAAGTGGATACTTTTTTTTTTTTTTTTTTGACACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGTAACCTCCACCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAATAGCTGGGACTATGGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGGTAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCAGAAGTGGATACTACTGATTTTAGACAATTCACTTTCTGAAAAATAGTGTTTTAAGTTACATACACACTTTAACTTCTAAAGCAAAAGATAACATATAAAATAAAAAATCATTTTGCCTACCATAAATACCCCTAGGATCCAAAGTAACACCAGAATAGCTTTCCCTTTTGACACCTTCTGGCTAAAATAAAGGCAGAAAACATTCAGTTAAAAACATAAGTTTATATAACCTGAATTCCCTGGATCAACTTTTCTGGACCACTTTTCAAACTAAAAAATTATTTTTCTTGGAAAAGGCAAACTATGTATAAATACTTACATGGATATAAGCAGCAATAAGATTTTATGGCTATTTGCATATTGACCAGAGCAAATGCTTAAAAAGAAGTTATTTATAAGCCAGATAATTGTTCTAAGTGCTTTATATGTATTAACTCATTTAACCTCTAAAAACCTCTATGAGGTTGGTGCTGTTATTACTCCCATTCGACAGATGAGGAGACTGACACACATGGAAATCAAGTAACACTGTCACACTGCTAGGAGGTGATGGAGCCAAGATTCAAGGCCCAGCAGCCTCGCTCCAGAGACTGCATGGAACCACAGTGCAAGGATGCATGGGAATGTGCTTTGCACAAAATAAGTCGGTACATGTTTACTGAAGTGAATTTCATAGCTGAAAACAGAGAGTGAAGAGCCAGGAAATCCAGTCTGTCATTAATTGGCCATATGACCCTTAGCAAGAATCTTAGTCCTTTAAAAGTACTATTATTTTTAATTGGTAAATCATACTTATATAAAATATTAAAATTATATAAAAATATTAAAATTACATAAAAATATTAATGTTAATAGCGTGAATACAATTAACAGACTGTGGGTAAATTGTACTTAACAAATTATACTTTTCTTCTTTTTTGGGACTGTTTATTTGTTTATACAATGGAAAGTTTTCTAGACTGCAAGTTCTTTAAATTCAAGGGCCATGTCTTATTTATTGTTTTATCTCCAGTTCCTTGCATAATGTCTGGCACATAGATTTCAAGACACATTTTCTGAATGTATTAAGGGGAAAAAAAAGCCTGTGTACCAATTGTACCTGTATACCAAAAAAAGACGTGTACCAATTGTTAAAATTAGATATCTCTGGGTATGGGAATTATTGATGATTTTTATTTATCTGTCGTTTTTCAGTATTTTATATTTTCTACGAAACAAATATTGTTTTATTAAAAATTTTTAAGCACGATTTCAGACTTACAGAAAAATTGCAAGAATAGTACAAAAAAAATCTGGAATAACCTCCATCCAGTTTCCTTAATGCTTAATGTTTCGTTAAATTTACACTATTGTTTCTCTCCCCCCCCTTTCTGTGTCTCTCTTTTGCAATAATTTAAGCATAAGTTATTGAAGCATGTTTTTCTTACCACCACTCGTAATGTTTTTACTAAGATTTCTTTTCCAAACCAAGTCTCCAGTGAAAAATTGATGTTGTGAAGGCCAATTTCCAGAGGAAGCACAGTGAATGTCACCAAGTGACTGGAGGAGCCCTCTACTTTCTGGCGCACACATTTGGAGGACTTTGTGCCCTGATGATCAATGACTGGGCTTTCCGAAGTGCAGATTCCCTCCACAGCAGACATTTTAACACAGAACTGAAATACAAGTATAGAATTATATCAAAATACATTTTTTTTTTTTGAGACAGAGTCTTGCTATGTCGCCCAGGCTGGAGTGCAGCGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGGCACGGTTTCTCCATGTTGGCCAGGCTGATCTCGAACTCCTGATCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTACTGGAATTACAGGCATGATGCTGTAATCCGTGCCCAGACTCGAAATACTTTATCTCTAAAAAAGTTGACCTTGATTATGCTTGTCTGGACACAAACTCTCCACTTTAACAATGTTAAAATAATCCCTTAGATTCTAAGGCACAGAAGAAAGTTCATTTCAGATTTCCTAACATAGACACACAAGTTGCCGTAGAGTTTAGCAATGCAAACAGATGTCTAGAAAAGTCAACACTGTCTCAGAAACATCTTACCTTTCTTAGACTGTTACGTACTAAATTGGGTACAGAGCTCATGCTGTTGTGATAGCACTTATTACCCTGTCTCTTTACATGTTTGTGTTTCAGATAGTGGGAGCCTTAGGCTCAGGTACTTTTTCATTTTCATCTTATTCATTTTTGTATCTTTTAGCTCAGCCTCTGGTATTCAGTAAATGATGGGTTTCATCAAAGACTGAAAATTCCCTATATCGGCATTCAAGGCCCTGCCCATTATGTCCCCAGCTTACTTTTCTAATTTTATCAACTTCCCATTTGTACCCCATTTTACAACCAAACTCTGGCTCCAGAAAGACCTGGATTCAATTTTTGGCATTCCTCTTATTAACTGGTGATGGAAACTGGTTGCATGAACTCTCTAATCCTCCATTTTCTCATCTTTGTAATGGGAATAATAATAGTGCCCACTGACTTCTGGCTCAAATAGTAAACATTTTTCATCTTCCCTCCAAATTCTGGTGAACTGATAGAATTGAGAACTATACCCAAAATAATAAATCCATAAAATCCAGAATAAGTCAAGCAGGTAAACAAAAGAGAGCACCAGCTATTCAACCACTAATTTTGAGGAATTTCTTGAAAACAGAAAGTTCCTTTTCCTTCTTAACTATCTTCTTGGGAGACAACCACCAGGGTGGGAGAAGCCAGAGCAAAAGACTATTGGATCACCTGCGGCCAATGATTTCCTTAGAACAGCAGGGGAGGGTGGGGAAGGATAGATATAGAAGAGTCATTTAATACAATTCAGCATAATTGCATTACAAAAACTCTTAGTAAATTGAGACTAAAAGGAACTTTTGAAACTGATAGAAAATATAAAAAAAAAAGTGGTTCTGGTTTCAGTAATAGCCAAATAGCTTATATTGGGCAACCTTTCTGTAAAAATAACCACAAACTCTAGACAAGATACATATTAAAACAAACTACCTGCAGATACTAGAGAGTGGGAGGGAAAGTGACACTTGGGAGAAGGGAATGACACTGAATAAGTGTCCCGCTTTTTATAGCTTTACCCTGAGGGCAGGTCCCATTGGTGCCTTGGAGTGGCTAAAACCCCAGTAGAACCTGACATCATACTGGTTTAGGAACTAGAGGACAAAGTAGGGAATAGTTACCACAGCTGAATAGTGAAGGAACTCCAAGTTCTGTGTATAATCCTTGCTCAAACCTGGCTGACCCTTGACCTATGCACAGCACAGATTTCTAGCATCCAGCTAAGGCTAAAAATACTGAACTGAGATTTCAGAGTCTGGAACTGAATCCAGCCAACTGCCTGCTAACACACACACACACACGAAAAATCTTCAGAGGAATGTAATAGAATCCAGAGTCTTTATAATATTTTTATTAATAAAGTAGAAGATTCAATCCAAAATTACTAGATAAAAAGAAATAGGAAAGTGTAACCCACACTCAGGAGGAAAGGTAATTAACAGGAACTAAGCCCAAAATATCACAGATGTACTTGTTTCTTATTTTGATATGATGGAAA | benign | 149,666 |
Chromosome 9, position 121327496, gene GSN (gelsolin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GAGAGGTGCTCAGAGGGGCCAGACCACCAGAGGCCATAGTGACGATGTTGACCTTGATGCTGAGAACAACAGGAAGTTGCTGAATGATAAGTCTGAGGTGTAGGGATTTCTGGTTTAAAAAGTCACTCTGGCCAGGCGCTGGAGGGCAGCAGAGCTGGTTTGTGGAAATATAGGGGAAGCGGACAACAACTGTGCTTCCTCCGTCCTACGGTGGGAGTGGGCAGGGCTCTAGATTGGCATCGGGGGTTCGTGCCCTGACCTTTGACTATGATAGACTGGGTGCTGGGCACTAAATGAGATGATGACCATCTTAGCTCAGTGCATCCTGACAACAGCCTTGGGAGTAGCATCCTTGGCTGCATTTTTCAGAGGAGGAACTCAAGAGGTTGAGACACGTGCCCAAGTTCTCACCATCAGGGTGGAGTTGGGGTCTAAGCCCTAACTCAGCGGTGGTGGGTCGTGGTGGGAAGCGACTGCCATATGCCTGACGTACATGTGAGGTTTTCTTCTGGACATAGTTAGCCGGGGCCACGGTAAGGTGCCGCACACAGGGCAGGAGCAGATGTGAGGGTGTACATCTTCCCTGCCTCACTCCCACCACCAAGCCCCTGACTGCTGCCCGCATCTGGGGTGCACTGGCTCTGCAGGAGGGGGTTTTCTGGATCTAGAATGCTCTGTTCTTACCACTCCACCAGCAGTCATGCCCAGGCCTGACGTCAGCATTCTGGAAGAATGTCCACCAGCAATCCCTGTGCTTCTATTTAAGGGAACATTTGCAAACACAGGCTCTCCTGGTTCTTGGACCAGGCTGAGGATCAGGAAGGCATGTCGTCATGGAGATGGAGAGCAGCCCAGCAGCAGTGCCCTGGGGACCTCAGACAATAGCACTGTCTCCACCCTTCCTGGAATTCTGGTGTCCCTGCCTGTGTGTTGTCGGGTCACATTCCATGCCACACACAGACACAAGCATGATGGCTTCGTCTGGAGGGATGGGCCCAGTGCGACATAGAAGGACTGAAGCCTGCCCCCAAGGTCCCTGACTTGCTCTCCTGTCTCCCTGCCAGAGCCGTGTGGTCCAAGGCAAGGAGCCCGCCCACCTCATGAGCCTGTTTGGTGGGAAGCCCATGATCATCTACAAGGGCGGCACCTCCCGCGAGGGCGGGCAGACAGCCCCTGCCAGCACCCGCCTCTTCCAGGTCCGCGCCAACAGCGCTGGAGCCACCCGGGCTGTTGAGGTAATTTCCAGGTCCTGGAACACAGAAGGGATTGGCCTCCCTGAAACCTCCCAGCTCAATGACCAGATCTCCAGGCACAGGAACGGGGGCAGGGGATGGTGAATGACGGGGTAAGAAGCAGCTTTTTGTATTTTCCTGCCGTGGCCACAGGGTTGTCTGTCTTAGACTCCCCCCTGTTTCAAGGATACCCAGTGTCCCTTGCACACTTTGCACAGTGGACAGCTCACTACCTACCATTCTGTACAATCAGCATGCCATTCCTGATTACGTTCCAGTTGCCTACTATCCCTTTCACGGAGGAAGGCACAGATCTGGACTTGATTCCCAGGATGGTCTGAGCAGCCTAGAGGGGAATGGGACTCTCACCTCCTTTGTTCTGGGCATTCAACTTCTGTTAATGCAGCCCTGATTTTTAGAATCATGTTGGCTAGTCACAGTGCATTAGTGACTCATGGGAGTCAACCAAGGCCATCAGGGTCCAAAGTCTGTGCCCTCAGCTCTGATGGGCTGTGTTCCTCCAAGTCCCCACCTGAGAGCTAGTCCTGCTGCGGGGTCTCCTGGGCTGTGAGGAGGGGGCTGAGGGCTTTTTGTCTGGTTCCTGATTAACCAAGCTGTACCCTCCCAGGTATTGCCTAAGGCTGGTGCACTGAACTCCAACGATGCCTTTGTTCTGAAAACCCCCTCAGCCGCCTACCTGTGGGTGGGTACAGGAGCCAGCGAGGCAGAGAAGACGGGGGCCCAGGAGCTGCTCAGGGTGCTGCGGGCCCAACCTGTGCAGGTGGCAGAAGGCAGCGAGCCAGGTAGGAGCCGGGGTGGGGGGCCTGCTGCTGTCCGGATGCAGCTATTAAGTTTCCCCCTTCTTTCCTTCAGCTTGGGGGCTCTAAATCCTCCCCTCCATCCCACCTGAGGGCCTGTCCCCTAATGTATGTTAAATAAAAGCAGTTGCATTAAAATGAGGGCTGTGGCCAGAGAGAGGGAGGTCTCCAGGAGCTAAAGAAAGGAGAGCCTAGCCTGGGCGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCGGGCGGATCACCTGAGGTCGGGAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAATACAAAATTAGCCGGGCATGGTGGCACATGCCTGTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTCAACCCGAGAGTTGGAGGTTGCGGTGAGCTGAGATCACGCTATTGCACTCCAGCCTGGGCAACAGGAGTAAAACTCTGTCTCAAAAAGAAGAAAGAAAGAAAGAAAGGAGAGCCCAGTGTGGGAAGGAGCAGTTGGTCTGTGGAAGGAGGCGGTCCCTCGCTAGGAAGCCTTGAAAGGTGGTAGGCAGGGCTGATAGCGTCAGAGGAGCAGTGGTCTCCTTGCATCTCTAGACTCTCCATGGACAGAAATGCCACCAGCCTGCTCTGTTTCCAGAATGTGGGCCGGGCAGCTCTTCCTTCTGCCAGCCTGCAGTCTTTATACTGTTACTTTGAGTTCATTCCCACCTGCTTGATGCTTAACAGAAATGGTGAAGAGTGACTTGGTCTAAAGCAGCTCTGTCCAGCAGAACCTTCTATGCAGATGGACATGTTCTGTATCTGCCGAGTCCAATTTGACAGCCATTAGTCACATGTGGCTGTTGAGCACTTGAAATGCGACCAGTGGGAATTAGTGGGAATGAAGAACTGAACTTTTAGTCGAATTTAATTTTAATGAATTTAAATTTAAATGGCTGCACATGGACAGAGCAGGTATAGTGGAAAGAGTATAGGTGTTAGAATCAGACAAGATTTGTATCCTGGTCTTAACACTTACCATCTGTGTGACCTTGAGTGAGTTGCTTAACCTCTCCGAGCCACAACTGCCTCATTAGCTGAGTGGAGCTAATGGTCCTCATCCCGCAATGCTGTCGTCAGCCTCAAGCCAATAGTGGTCCTGGCTGTGTGACTACTGCCAAGTCTGCCCTCTCTGGGCCTCTATTTCGTCACCTTCCAATTCCCTCAGGCCTCTTCCCTCTGGATCTCCTGGGATTTTTAGGATGGAGGGAGGAGAGGGAGAGCAGTTGGTTGCGCTTGGGCAGGGCTGGTCCCAGGGTCCGATGAGATGGGAGAGAGGGGTGATGGCGTCCCTTGGCAACTGGCGTGGCCTCCCCTCACAGATGGCTTCTGGGAGGCCCTGGGCGGGAAGGCTGCCTACCGCACATCCCCACGGCTGAAGGACAAGAAGATGGATGCCCATCCTCCTCGCCTCTTTGCCTGCTCCAACAAGATTGGACGTTTTGTGGTGAGCCCCTGCGGAGGTCACACCTCTGCTTTCCCCTCGGGAGGCGAGTTCCACAGGACTGGCCGGCAGCAGGGGCAGGAGAAACAGTTCTGATGGTGTGGCACAGAGGAAGGGGCCCCCTGCCAGCTGCAGCCAGCTGTGCCACTCCCTCAGGGGGCAGATAAAGGAAGGCCACCCAGGGGAGGGAAGACATCTCACTGATGCTCTTTCGTTCCTTCCCAGATCGAAGAGGTTCCTGGTGAGCTCATGCAGGAAGACCTGGCAACGGATGACGTCATGCTTCTGGACACCTGGGACCAGGTGGGTGAAGGACAGGTGAAGGCTCTCTGTGCCAGAGGGAGTGGGAGAAACTAGACTTCCAGTTCTATGATCAGTTGCTAGAAGGACCTAAAGGGGGCAGTGCCAGGTGTTGCCAGAAAAGTCTCTAAGGGTACTGGAAGTCACTTCTTCTTTCTGAGCTTCCATTTCCTCATCTGTAAACTGGGAGTGGCGGTACCTCCCTTGCAGATACACTCACCTTGAAAGCTG | GAGAGGTGCTCAGAGGGGCCAGACCACCAGAGGCCATAGTGACGATGTTGACCTTGATGCTGAGAACAACAGGAAGTTGCTGAATGATAAGTCTGAGGTGTAGGGATTTCTGGTTTAAAAAGTCACTCTGGCCAGGCGCTGGAGGGCAGCAGAGCTGGTTTGTGGAAATATAGGGGAAGCGGACAACAACTGTGCTTCCTCCGTCCTACGGTGGGAGTGGGCAGGGCTCTAGATTGGCATCGGGGGTTCGTGCCCTGACCTTTGACTATGATAGACTGGGTGCTGGGCACTAAATGAGATGATGACCATCTTAGCTCAGTGCATCCTGACAACAGCCTTGGGAGTAGCATCCTTGGCTGCATTTTTCAGAGGAGGAACTCAAGAGGTTGAGACACGTGCCCAAGTTCTCACCATCAGGGTGGAGTTGGGGTCTAAGCCCTAACTCAGCGGTGGTGGGTCGTGGTGGGAAGCGACTGCCATATGCCTGACGTACATGTGAGGTTTTCTTCTGGACATAGTTAGCCGGGGCCACGGTAAGGTGCCGCACACAGGGCAGGAGCAGATGTGAGGGTGTACATCTTCCCTGCCTCACTCCCACCACCAAGCCCCTGACTGCTGCCCGCATCTGGGGTGCACTGGCTCTGCAGGAGGGGGTTTTCTGGATCTAGAATGCTCTGTTCTTACCACTCCACCAGCAGTCATGCCCAGGCCTGACGTCAGCATTCTGGAAGAATGTCCACCAGCAATCCCTGTGCTTCTATTTAAGGGAACATTTGCAAACACAGGCTCTCCTGGTTCTTGGACCAGGCTGAGGATCAGGAAGGCATGTCGTCATGGAGATGGAGAGCAGCCCAGCAGCAGTGCCCTGGGGACCTCAGACAATAGCACTGTCTCCACCCTTCCTGGAATTCTGGTGTCCCTGCCTGTGTGTTGTCGGGTCACATTCCATGCCACACACAGACACAAGCATGATGGCTTCGTCTGGAGGGATGGGCCCAGTGCGACATAGAAGGACTGAAGCCTGCCCCCAAGGTCCCTGACTTGCTCTCCTGTCTCCCTGCCAGAGCCGTGTGGTCCAAGGCAAGGAGCCCGCCCACCTCATGAGCCTGTTTGGTGGGAAGCCCATGATCATCTACAAGGGCGGCACCTCCCGCGAGGGCGGGCAGACAGCCCCTGCCAGCACCCGCCTCTTCCAGGTCCGCGCCAACAGCGCTGGAGCCACCCGGGCTGTTGAGGTAATTTCCAGGTCCTGGAACACAGAAGGGATTGGCCTCCCTGAAACCTCCCAGCTCAATGACCAGATCTCCAGGCACAGGAACGGGGGCAGGGGATGGTGAATGACGGGGTAAGAAGCAGCTTTTTGTATTTTCCTGCCGTGGCCACAGGGTTGTCTGTCTTAGACTCCCCCCTGTTTCAAGGATACCCAGTGTCCCTTGCACACTTTGCACAGTGGACAGCTCACTACCTACCATTCTGTACAATCAGCATGCCATTCCTGATTACGTTCCAGTTGCCTACTATCCCTTTCACGGAGGAAGGCACAGATCTGGACTTGATTCCCAGGATGGTCTGAGCAGCCTAGAGGGGAATGGGACTCTCACCTCCTTTGTTCTGGGCATTCAACTTCTGTTAATGCAGCCCTGATTTTTAGAATCATGTTGGCTAGTCACAGTGCATTAGTGACTCATGGGAGTCAACCAAGGCCATCAGGGTCCAAAGTCTGTGCCCTCAGCTCTGATGGGCTGTGTTCCTCCAAGTCCCCACCTGAGAGCTAGTCCTGCTGCGGGGTCTCCTGGGCTGTGAGGAGGGGGCTGAGGGCTTTTTGTCTGGTTCCTGATTAACCAAGCTGTACCCTCCCAGGTATTGCCTAAGGCTGGTGCACTGAACTCCAACGATGCCTTTGTTCTGAAAACCCCCTCAGCCGCCTACCTGTGGGTGGGTACAGGAGCCAGCGAGGCAGAGAAGACGGGGGCCCAGGAGCTGCTCAGGGTGCTGCGGGCCCAACCTGTGCAGGTGGCAGAAGGCAGCGAGCCAGGTAGGAGCCGGGGTGGGGGCCTGCTGCTGTCCGGATGCAGCTATTAAGTTTCCCCCTTCTTTCCTTCAGCTTGGGGGCTCTAAATCCTCCCCTCCATCCCACCTGAGGGCCTGTCCCCTAATGTATGTTAAATAAAAGCAGTTGCATTAAAATGAGGGCTGTGGCCAGAGAGAGGGAGGTCTCCAGGAGCTAAAGAAAGGAGAGCCTAGCCTGGGCGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCGGGCGGATCACCTGAGGTCGGGAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAATACAAAATTAGCCGGGCATGGTGGCACATGCCTGTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTCAACCCGAGAGTTGGAGGTTGCGGTGAGCTGAGATCACGCTATTGCACTCCAGCCTGGGCAACAGGAGTAAAACTCTGTCTCAAAAAGAAGAAAGAAAGAAAGAAAGGAGAGCCCAGTGTGGGAAGGAGCAGTTGGTCTGTGGAAGGAGGCGGTCCCTCGCTAGGAAGCCTTGAAAGGTGGTAGGCAGGGCTGATAGCGTCAGAGGAGCAGTGGTCTCCTTGCATCTCTAGACTCTCCATGGACAGAAATGCCACCAGCCTGCTCTGTTTCCAGAATGTGGGCCGGGCAGCTCTTCCTTCTGCCAGCCTGCAGTCTTTATACTGTTACTTTGAGTTCATTCCCACCTGCTTGATGCTTAACAGAAATGGTGAAGAGTGACTTGGTCTAAAGCAGCTCTGTCCAGCAGAACCTTCTATGCAGATGGACATGTTCTGTATCTGCCGAGTCCAATTTGACAGCCATTAGTCACATGTGGCTGTTGAGCACTTGAAATGCGACCAGTGGGAATTAGTGGGAATGAAGAACTGAACTTTTAGTCGAATTTAATTTTAATGAATTTAAATTTAAATGGCTGCACATGGACAGAGCAGGTATAGTGGAAAGAGTATAGGTGTTAGAATCAGACAAGATTTGTATCCTGGTCTTAACACTTACCATCTGTGTGACCTTGAGTGAGTTGCTTAACCTCTCCGAGCCACAACTGCCTCATTAGCTGAGTGGAGCTAATGGTCCTCATCCCGCAATGCTGTCGTCAGCCTCAAGCCAATAGTGGTCCTGGCTGTGTGACTACTGCCAAGTCTGCCCTCTCTGGGCCTCTATTTCGTCACCTTCCAATTCCCTCAGGCCTCTTCCCTCTGGATCTCCTGGGATTTTTAGGATGGAGGGAGGAGAGGGAGAGCAGTTGGTTGCGCTTGGGCAGGGCTGGTCCCAGGGTCCGATGAGATGGGAGAGAGGGGTGATGGCGTCCCTTGGCAACTGGCGTGGCCTCCCCTCACAGATGGCTTCTGGGAGGCCCTGGGCGGGAAGGCTGCCTACCGCACATCCCCACGGCTGAAGGACAAGAAGATGGATGCCCATCCTCCTCGCCTCTTTGCCTGCTCCAACAAGATTGGACGTTTTGTGGTGAGCCCCTGCGGAGGTCACACCTCTGCTTTCCCCTCGGGAGGCGAGTTCCACAGGACTGGCCGGCAGCAGGGGCAGGAGAAACAGTTCTGATGGTGTGGCACAGAGGAAGGGGCCCCCTGCCAGCTGCAGCCAGCTGTGCCACTCCCTCAGGGGGCAGATAAAGGAAGGCCACCCAGGGGAGGGAAGACATCTCACTGATGCTCTTTCGTTCCTTCCCAGATCGAAGAGGTTCCTGGTGAGCTCATGCAGGAAGACCTGGCAACGGATGACGTCATGCTTCTGGACACCTGGGACCAGGTGGGTGAAGGACAGGTGAAGGCTCTCTGTGCCAGAGGGAGTGGGAGAAACTAGACTTCCAGTTCTATGATCAGTTGCTAGAAGGACCTAAAGGGGGCAGTGCCAGGTGTTGCCAGAAAAGTCTCTAAGGGTACTGGAAGTCACTTCTTCTTTCTGAGCTTCCATTTCCTCATCTGTAAACTGGGAGTGGCGGTACCTCCCTTGCAGATACACTCACCTTGAAAGCTGN | benign | 149,801 |
Clinical impact (benign or pathogenic) of the variant at chromosome 9, location 123356238, gene CRB2 (crumbs cell polarity complex component 2): what disease(s) if pathogenic? | benign | CCCTCCATACCCTCCAGACCTCACAAGACACTTCCAGGTCTGGCCACAAGGTGGAGTGTGGCGGCTGCAGGACAGTGCTGGGGGCCGGGCTGCAGAGGAGACTGGACCTGCGCCGGGTGACCTCCCCGCTCTGTGAAAGTGTGGGAGTTTGTGTCTGTGCATCCAGAGAACCAGAGGGTGGTGGTTGACTTGCCGTGCTCCCCCCAGCCCCCCATTGGGATTGCCTGGGTCTCTGGGGGATCACTGAGAAGCTGGATAAAGAGAGCTGGCACTGTCGCCTTGGCTCACTAACGCCACCATTTTACAGGTGAGGAGACTGAGGCCCAGAGAAGGAAGTCACGTGCTGAGGTCACCGGCTAATCAGTGGCTGAGCTGGGCTCGAACCCAGATCTCTTACGCTGTGAGGCCTCTGCTTTTCCTGTGGCATGGAGAGGGGCTTCTCCCACCTGGGGAGAGGGATCCTGTTGTATTGGAGAGGCAGGGGATTAAAGATGGACTGAGAGAGGTTAGTGTCCCAGAAACCAAGGGGCAATCCCTGCCCTGGAGAGAACAGGCCTCAAGGGCAGGGATGGGGCAGGGGCAGTGGATAAGGAGTCTACCCAGGCCTTTTTGGGTTCCCTCCTTTGGTCCCTGGGGACCCAGGGCTGTGGCACTTGCCCCGGGCTAGAGGGTCGGCCAGGGCCTGTGTGGTGCCCACTGCTCCCTCCCCTGCACTGCAGGGGACCCTTGCCCATCCCTCTAGCTCATCTGGACCTCCCTCAATGGCTCCTGCTGTCTTTCCAGGCTGTGTCCTCCCGTGTCAGGGACACATCCCAGAGCCCAGGGCCTGCGTGGGCTGTATCCACGGTTACTGAATAGGGACAAACAGGCATGTATTGGCAGGGGCCGGTGGCTCATTTCAGGAAAGTCCCTTCAGCAAGAGGATTCTCTCCCCACTGGGGCTGAGGGTGGTAGAAGAAAGGAATGTTGTTCTATGTTGTAGTGTCTCTGAGATGACCTGGCTTCCTGAACCAGGTCCCCCTGAAGAGCTCCTCCTGTCCACCCCAACAAGAGGCCAGCTGGAGAGCAAGCAAACATCGAGTGCAGCAGGAGACTATAAGGTTAGACAACAAGAAGGACTTCCTGGCAGGGGAGAGCAATGCTTGCTTGGTTAGAGCTGCCTTTCAGTAGAATGGGCTGCTTTGGATTGCAGTGAGGTCGCTGGAGTTGCAAACAGCAGAGCCAGAGATCAAGGTCAAGTGGAAGAAAGCTGGGAAAGGTTCAGTTTGGCTGGTGAAGGGTGGAGAGGGTAAAGGGAGGCAGGGACCACCGTGGTGCAGGGGTGAGGTGCCCTGCAGGGAGCTGATCCTGAGGCCGATGGTGGGAGGAGCTGTGTGTGGTCGGGTGGGACGGGGTGGGGACAGCAGGAGACACTGAGAAGGTGGCATGGCCAGGAGCTAGGGGCTGACCGAGTGTGGGGAGGGGGGAGTGGGGAGGGGGCGTTGGGCTGCCCGATGGGAGGTGCCTTGGCTCCGATGGGAGCACTGGGGAGCAGCAGGTGGGGGGACGAGCTGGGTGGGAGGGGCTGCAGCTTCCCAGCAGAGACAGGGTCTGGGAGGCGACTGGACTCGAAGGCCTGGGCTTGGGAGAGAGGCCCGGGCTGGAGAGGTGGGGAGGGGGATCCAGGAGAGGGGATAACTAAGGACTTGGGAGTAGCTGGCATCACCTGGTGAGACGAGAGTCCTGAACAGCCCCCTCTCCAAGGACAGAAATTTCTCCAAGGAGGCTGACCTGAGAGGTGGGAGGAGAGTGGGGCAGAGGGTCAGGAGGGAGAAACCAGTGGGTGCCAAGACCAGGTCAGCCCCACAGGCTAGGGGGCTTGAGGACTTGGGGCTGATGTCTAGGGACGTCCACGAGGTGGAGCAGCCCAGGAGGCCTGGGTGGGAGGAGGAGGCGGTGGCGGGGAGGGGAGGGAGGGGCTGGGCCTCTGTCCACAGCATTAGTGCTGGTTGGAGGGACGAGGGGGGTGCGGAGCCAGCCAGGCCGCCCTCCCGTTCTCACAGCAGCCGAGCAGAGCGCAGAGCGGGCTGCCATGGCGCTGGCCAGGCCTGGGACCCCGGACCCCCAGGCCCTGGCCTCTGTCCTGCTACTGCTGCTCTGGGCCCCTGCCCTTTCCCTCCTGGCTGGTGAGTTGGGGCCCATGTCTGGAGGGGCCTGGGAGAGGGTCTGTCCCCCAAGACAGATACCCCAAGCCTTGGCTGCTGGGGTGGTGGGTGGGCTGGTCCGCGTGGGTGCAGGCCTGAGCTGTGGGGTGCACAGGAGTGCGCGGCTGTGGCCCCCAGACTCTGTGGGGCTCCACGGAGGTGAGTGTGTTCTGAGGCTCGGGGCTGTTTCATGTTGAGGGGGGTTGTAAGTTTCGGGGTTGGGGGATCGGGGGCTGGGCATGATTTGGGGGAGCTGATGCGGGTGAGGGATGGGGTGCGTGTTTTGGGAGGTGCTGTGTTGCATCCTGTAAAGGGCTGGGGGACTTCTGGGTTTCTAGGGGCTGAGTTTGGGGAGTTGCAGGTGGCATAAGCCTCACCCCAGAGCTTGTTCTGTGTCGCATGCTGGGTTGTGGGGCACAGGTTGTGGGTGTGTTAGAGTTGGGAGGTGGATGAGCTGTCTGGGGTGAGCCGTGAGTTGTGTCCGAGGAGTTGGGTGTGGTGAGCTGTGTCCTAGCACACGCTGTGGGGTGTAGGTTGTCCAGGGTTGAACTAGGTCTTTGCTCTCAACATGAGGGGTGTGGGATGTGCACAGCCGACCCCAACTCGGGACTGAGTGGAGAAGCGTGAGGGAGACTCAGGGAGCTGGGTGCCTGCCCGCACCCCTCCATTTGTGCGGTAGCCCTGCCTGTGCTGAGGGCTGCTGGGGATGCTCTGGGTCCCTGTGGGGTGGCTGGGGATTTGGGAACATGTGTGTGTCCCCTGCTGCCCCCTCCCCAGCATTCCAAGGCCAATCTGAAAGGGCTCCCTGAAGCCAGACCACATTTGCCAAGCCCTTTTTGCTTTTGTCCAAGCTCTCGGAGCCTGGAATTCCTCCTGGGGGGTCCAAGGGAACGCTTGGTGTTAGTTACTATAGTTACAGGGGCCGGGCCTGGGAAGTCCCCTGCCCCCACCACCACAGGCTGGGGAGGGAGCCAAGGAGGGCCTGGGCTCTCCTGAGGCTGGGGGAGCCCTCCCTGCCCCAGAGCTCCACAGGCTGTAGGGTGTGGGGGCCAAGTGTCTCCCAGTCCCACCTGGGGACCCTCATGTTTCCCGCACTCACAAAGCTTTCATTTCCTATCCTCTCTATGGGGCCCTAGGGAGGATGAGGACCCCATTTTGCAGTGAAGGAAACCAAGGCTCAGAGAGGGACGGGGACTTATGAGCTGGGCTCTGCTGGCAGGCGACTTGGGCTCCATAGAGGGGTGGGGCATGGTGGCGGGGGGCGGGGTGGCTGCTCCTCTCTGTTCTCTGCATACAAAGCACGTGAGATCCCGGTCTGTGGATCGGTGCTCTGTCCCCTGCCCTGTGATGCTCACACACCCACACTCCGCACACCTGTGTGGCATGCCCAAGGGCACACAGCACCACAGGGACAGGTGCTACAGACACATGTGGATCTACCAGCACATGCACCTACCTACACACATGGCATGTGCCTGCACACCAATGTGCACACCCCAACACGCACATGTGGACATGTGTGCATTCACACTCAGTGTGCACTCACAGGGGACCTGGAGGCACAGAGTGGATGGAGGCTGTGGGGGGTCTGGACACTGGTGTGTACACTCAACCCATCAGGCCTGCTGGGTTGCCCAGGGGCAGCCTTTCCTCTGCCATTTCTGTGCTGGGAGCGCCATCCCTGGGGATCCCTAAAAGTTGGTGGGGTACACTGCAGGCATGACCATTTCTGCATGCTGGTACCCTAGACTGCCTGCCGGGAGGGGAGGGATTGGGGATTTTGTCACTTGAAAACCAATTTCCATCCTGGAGGGGATGGGGGCTTCTGGAGGCCATGGGCCCCTGGCTTTTCTCCCCACCCCTGCCAGGCCCTGAGCTGGGCCTCTCCATCCTGGGCCCAATTTGCCACAAAG | CCCTCCATACCCTCCAGACCTCACAAGACACTTCCAGGTCTGGCCACAAGGTGGAGTGTGGCGGCTGCAGGACAGTGCTGGGGGCCGGGCTGCAGAGGAGACTGGACCTGCGCCGGGTGACCTCCCCGCTCTGTGAAAGTGTGGGAGTTTGTGTCTGTGCATCCAGAGAACCAGAGGGTGGTGGTTGACTTGCCGTGCTCCCCCCAGCCCCCCATTGGGATTGCCTGGGTCTCTGGGGGATCACTGAGAAGCTGGATAAAGAGAGCTGGCACTGTCGCCTTGGCTCACTAACGCCACCATTTTACAGGTGAGGAGACTGAGGCCCAGAGAAGGAAGTCACGTGCTGAGGTCACCGGCTAATCAGTGGCTGAGCTGGGCTCGAACCCAGATCTCTTACGCTGTGAGGCCTCTGCTTTTCCTGTGGCATGGAGAGGGGCTTCTCCCACCTGGGGAGAGGGATCCTGTTGTATTGGAGAGGCAGGGGATTAAAGATGGACTGAGAGAGGTTAGTGTCCCAGAAACCAAGGGGCAATCCCTGCCCTGGAGAGAACAGGCCTCAAGGGCAGGGATGGGGCAGGGGCAGTGGATAAGGAGTCTACCCAGGCCTTTTTGGGTTCCCTCCTTTGGTCCCTGGGGACCCAGGGCTGTGGCACTTGCCCCGGGCTAGAGGGTCGGCCAGGGCCTGTGTGGTGCCCACTGCTCCCTCCCCTGCACTGCAGGGGACCCTTGCCCATCCCTCTAGCTCATCTGGACCTCCCTCAATGGCTCCTGCTGTCTTTCCAGGCTGTGTCCTCCCGTGTCAGGGACACATCCCAGAGCCCAGGGCCTGCGTGGGCTGTATCCACGGTTACTGAATAGGGACAAACAGGCATGTATTGGCAGGGGCCGGTGGCTCATTTCAGGAAAGTCCCTTCAGCAAGAGGATTCTCTCCCCACTGGGGCTGAGGGTGGTAGAAGAAAGGAATGTTGTTCTATGTTGTAGTGTCTCTGAGATGACCTGGCTTCCTGAACCAGGTCCCCCTGAAGAGCTCCTCCTGTCCACCCCAACAAGAGGCCAGCTGGAGAGCAAGCAAACATCGAGTGCAGCAGGAGACTATAAGGTTAGACAACAAGAAGGACTTCCTGGCAGGGGAGAGCAATGCTTGCTTGGTTAGAGCTGCCTTTCAGTAGAATGGGCTGCTTTGGATTGCAGTGAGGTCGCTGGAGTTGCAAACAGCAGAGCCAGAGATCAAGGTCAAGTGGAAGAAAGCTGGGAAAGGTTCAGTTTGGCTGGTGAAGGGTGGAGAGGGTAAAGGGAGGCAGGGACCACCGTGGTGCAGGGGTGAGGTGCCCTGCAGGGAGCTGATCCTGAGGCCGATGGTGGGAGGAGCTGTGTGTGGTCGGGTGGGACGGGGTGGGGACAGCAGGAGACACTGAGAAGGTGGCATGGCCAGGAGCTAGGGGCTGACCGAGTGTGGGGAGGGGGGAGTGGGGAGGGGGCGTTGGGCTGCCCGATGGGAGGTGCCTTGGCTCCGATGGGAGCACTGGGGAGCAGCAGGTGGGGGGACGAGCTGGGTGGGAGGGGCTGCAGCTTCCCAGCAGAGACAGGGTCTGGGAGGCGACTGGACTCGAAGGCCTGGGCTTGGGAGAGAGGCCCGGGCTGGAGAGGTGGGGAGGGGGATCCAGGAGAGGGGATAACTAAGGACTTGGGAGTAGCTGGCATCACCTGGTGAGACGAGAGTCCTGAACAGCCCCCTCTCCAAGGACAGAAATTTCTCCAAGGAGGCTGACCTGAGAGGTGGGAGGAGAGTGGGGCAGAGGGTCAGGAGGGAGAAACCAGTGGGTGCCAAGACCAGGTCAGCCCCACAGGCTAGGGGGCTTGAGGACTTGGGGCTGATGTCTAGGGACGTCCACGAGGTGGAGCAGCCCAGGAGGCCTGGGTGGGAGGAGGAGGCGGTGGCGGGGAGGGGAGGGAGGGGCTGGGCCTCTGTCCACAGCATTAGTGCTGGTTGGAGGGACGAGGGGGGTGCGGAGCCAGCCAGGCCGCCCTCCCGTTCTCACAGCAGCCGAGCAGAGCGGGCTGCCATGGCGCTGGCCAGGCCTGGGACCCCGGACCCCCAGGCCCTGGCCTCTGTCCTGCTACTGCTGCTCTGGGCCCCTGCCCTTTCCCTCCTGGCTGGTGAGTTGGGGCCCATGTCTGGAGGGGCCTGGGAGAGGGTCTGTCCCCCAAGACAGATACCCCAAGCCTTGGCTGCTGGGGTGGTGGGTGGGCTGGTCCGCGTGGGTGCAGGCCTGAGCTGTGGGGTGCACAGGAGTGCGCGGCTGTGGCCCCCAGACTCTGTGGGGCTCCACGGAGGTGAGTGTGTTCTGAGGCTCGGGGCTGTTTCATGTTGAGGGGGGTTGTAAGTTTCGGGGTTGGGGGATCGGGGGCTGGGCATGATTTGGGGGAGCTGATGCGGGTGAGGGATGGGGTGCGTGTTTTGGGAGGTGCTGTGTTGCATCCTGTAAAGGGCTGGGGGACTTCTGGGTTTCTAGGGGCTGAGTTTGGGGAGTTGCAGGTGGCATAAGCCTCACCCCAGAGCTTGTTCTGTGTCGCATGCTGGGTTGTGGGGCACAGGTTGTGGGTGTGTTAGAGTTGGGAGGTGGATGAGCTGTCTGGGGTGAGCCGTGAGTTGTGTCCGAGGAGTTGGGTGTGGTGAGCTGTGTCCTAGCACACGCTGTGGGGTGTAGGTTGTCCAGGGTTGAACTAGGTCTTTGCTCTCAACATGAGGGGTGTGGGATGTGCACAGCCGACCCCAACTCGGGACTGAGTGGAGAAGCGTGAGGGAGACTCAGGGAGCTGGGTGCCTGCCCGCACCCCTCCATTTGTGCGGTAGCCCTGCCTGTGCTGAGGGCTGCTGGGGATGCTCTGGGTCCCTGTGGGGTGGCTGGGGATTTGGGAACATGTGTGTGTCCCCTGCTGCCCCCTCCCCAGCATTCCAAGGCCAATCTGAAAGGGCTCCCTGAAGCCAGACCACATTTGCCAAGCCCTTTTTGCTTTTGTCCAAGCTCTCGGAGCCTGGAATTCCTCCTGGGGGGTCCAAGGGAACGCTTGGTGTTAGTTACTATAGTTACAGGGGCCGGGCCTGGGAAGTCCCCTGCCCCCACCACCACAGGCTGGGGAGGGAGCCAAGGAGGGCCTGGGCTCTCCTGAGGCTGGGGGAGCCCTCCCTGCCCCAGAGCTCCACAGGCTGTAGGGTGTGGGGGCCAAGTGTCTCCCAGTCCCACCTGGGGACCCTCATGTTTCCCGCACTCACAAAGCTTTCATTTCCTATCCTCTCTATGGGGCCCTAGGGAGGATGAGGACCCCATTTTGCAGTGAAGGAAACCAAGGCTCAGAGAGGGACGGGGACTTATGAGCTGGGCTCTGCTGGCAGGCGACTTGGGCTCCATAGAGGGGTGGGGCATGGTGGCGGGGGGCGGGGTGGCTGCTCCTCTCTGTTCTCTGCATACAAAGCACGTGAGATCCCGGTCTGTGGATCGGTGCTCTGTCCCCTGCCCTGTGATGCTCACACACCCACACTCCGCACACCTGTGTGGCATGCCCAAGGGCACACAGCACCACAGGGACAGGTGCTACAGACACATGTGGATCTACCAGCACATGCACCTACCTACACACATGGCATGTGCCTGCACACCAATGTGCACACCCCAACACGCACATGTGGACATGTGTGCATTCACACTCAGTGTGCACTCACAGGGGACCTGGAGGCACAGAGTGGATGGAGGCTGTGGGGGGTCTGGACACTGGTGTGTACACTCAACCCATCAGGCCTGCTGGGTTGCCCAGGGGCAGCCTTTCCTCTGCCATTTCTGTGCTGGGAGCGCCATCCCTGGGGATCCCTAAAAGTTGGTGGGGTACACTGCAGGCATGACCATTTCTGCATGCTGGTACCCTAGACTGCCTGCCGGGAGGGGAGGGATTGGGGATTTTGTCACTTGAAAACCAATTTCCATCCTGGAGGGGATGGGGGCTTCTGGAGGCCATGGGCCCCTGGCTTTTCTCCCCACCCCTGCCAGGCCCTGAGCTGGGCCTCTCCATCCTGGGCCCAATTTGCCACAAAGNNNNNNN | benign | 149,837 |
Is the chromosome 9, position 123363039 variant in CRB2 (crumbs cell polarity complex component 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GCCCATCTGCTCCCATGGTCCTGGGAAGATCCCTTGTGACAAGGCACCTCCCCCGCCCCCCAGGATCCTTTCCCCGGTGCTGCCTCCCCAGCGTGGTCCCAGCTGCTCTGAGATAGGGGGCAAAGCTTCAGATTGGATGGGCGGGGAGGGGGGGGGGTTCCTTGCACTGCACAGGTGAGGGACAGTGCTCTGTGGGAATTAAGTGAGGGACCTGTTGGCACAGGCGCTGGCAGCCGGGGCCCTTTACCATGGGTTATGAGTGCTGCACCCTCCTGAGCAGTGCTGGCCACACCCAGTCCCAGGGCTGTGCCCTGCATCACCTTGGTGAATCCTTTCAACACCTCCATGAGATGGGCACTTTTTGCACCCCAGATACAAACCAGGACTGCCCGATGCCCCAAACCTGTGCCCTTTCCTGGGGGAGCTGGAAGGATGCGGGTCAGGCCACAGGACAGCCCTGCCTGGAATGCGGATGACGCCTGAGAGGCTGCCAGCCTTATCTGGGGGGCTTCACCAGAGTGGGGGAGGGAAGGGTGCAGGGTCTGAGCTGTTCTGGGGTCTGGTGAGTGTCTAGATGACAACCTGGGTGGGGGAGGGGCACCTTTGGGAGCTCCGGATGGGGGTGGGGGGAGGAATGGAGGCTGTGTCTTCTGGAGGCTCTCCTCCCCCATCCCTTACCGAGTTGTTACCAAAAGCAGCCCTTGACTGCGGTGCTGGGGAGCTGAATAGTTCAGCATTTGATGAGGGGATTCTTTTATGATCTAATTTTCAGACTGGGAAACGGAGGCTCTGTAGGAGAAATGACTTACCCAGGGTCTCATAGCTAGGAACTTTCTGAGCTGAAATTGAACCCAGGTCTGTTTCACTTCAAAGCTCAAGTTCTCACCTGGGCATTGTGGTGACAAGGCTCTCAGGAAGGCAGGAGGAGAGGAAGGGGGATGAGGATCTCTGGGCGTGGCTTCCAAGCCGGTTGGTGACCCTCTGTTAGAGCCCCGGTGCTGGAAGCATCATGGTGGCCAGGGGCAGGTGTCCGTGAGCCATCTCAATACCTGCTCTGTACCATGCGACCTTGGCCAGGCCGGCCACTCAGGTGTTTGCTGATGGGGGATGAAATTAGGGCCAGGGACCCTCTAGAAGTTCCTAGGCCAGTGGCTGGCAGGGGGTGGGTAGTGATGTGGAGAAGGGGTAGGAATGAGACCAGCGGAGCACACGATCCCTGCTTTTGAAGTTGTCCACCCATCCTCCAGAGGTTGAGGTCGGGCCCATCTCCAGTTTCACCCAGGGATGGAGTTACCAGACCCCTGGCAGAAGAGGTGGAGGGGGCAGTGGGAGGAGCCTCACCCTCTGGGGCCTCCTTGGATGGATGGGGCCTGCAGGAGGGAGACCCCTCCCCAGGTGGAGCTGAAATAATCCAGATAGACCTTGAAGCCTGTCCCAGCGAACACTAACTTGCTGTGTGAAGTGGACAGGGCTGGGCAGGCTCAGCAAGCCTTCACTTTCTTTCCTGGGCCTCCTTTTGCTGTCTGGTGCAATGGGCATGACGGATACTGCCTCAAAGGGGGACTGCAGGGACAAGACAGTGGAGGGAAGCTCACGGGGCTCAGGGAACCTCTGCTCACTAATCCTGCCCAGAAGCCAGACATCCTTGGTGCTGTTTCTCTGCTATATAGGCTCTCCTAAAACCGTTCCCAGTTCTGGGTGCAGATGTGTGCAGCTTACTGGGACCTGGCTTGCAGACCCCTGGCCCTCTGTCCATACTGTGCATGCAGAGACCCACGTTGCTTTTGGGGTCTGGGGTGGGCCTGAGAGGGTGGGGAGGAGATTGTCCTTGTAACCTCTGCCCACCCTGCCCAGCCAGTTTCTTCTTTCTACAGGGACGGTGCCTTCAGAGCCCCCCAGTGCCTGTGCCTCAGACCCGTGCGCTCCAGGGACCGAGTGCCAGGCTACCGAGAGTGGTGGCTATACCTGTGGGCCCATGGAGCCCCGGGGCTGTGCCACCCAGCCATGCCACCACGGCGCTCTGTGTGTGCCCCAGGGTCCAGATCCCACCGGCTTCCGCTGCTACTGCGTGCCGGGTTTCCAGGGCCCACGCTGCGAGCTGGACATCGATGAGTGTGCATCCCGGCCGTGCCACCATGGGGCCACCTGCCGCAACCTGGCCGATCGCTACGAGTGCCATTGCCCCCTTGGCTATGCAGGTAACAGCCTGGGCCGCCCTGGGAGGAGGTCTGTAATGCAGATCGCATCAGCTGCTCAGAGTGTAAGCATCATGGCTTCAGCTTTGCCTTTCGTGTAGGGACGCCCCCAGGCATCCGGGCAGCTCTAGGGTATATCCACTTGGTCTGACTACAGAACTGATGCCTGGCAGCTCTGGGTGAGAGTATGTATGTGCGGGTGCTGGCGTGGTGTGTGGCGCATCTCAGGCACTCGGTAAATGTGATTTCAGTCCAGCCTAGAGTTCAGTTTGGCTGCGGGGGTGGAATACCCCTCATTCATCTCTGGCAGTGTGAACCTGCCTGGCGTGACTTTAGTGAGGATGCCCAGATAGTCTTTCTAGCACTTCAGGCCTGTGCCAAGCTGTCATGTAGACACTGTCTACACGACAGTCACCATCAGCTCATTTGAACACTCCTGATGTGGTCTGGAGTGCAATGTGGACCCCTGGCCTCTGGGTCTCCCCCAGAGTTCTAGCATAGACATACAAGGTCTCGTTCAAACTGTAGTGTTGACATACCCCAGGGATCGCTGCTGTCTGGAGTGGGATAATATATACGTAAGTGCTCAGAAAAGTGACTGGCACTAAGGGTACCTTCTCCAGAGTGTGGCCCGTCCCAGGCCCACCCATGGTCTGAGCCGAGAACATCCTGGAGCGGCTTCCCAGAGAGGCCTGAAGTCGGGAAGGAGGGCGCAGCTGGGGACAGAAGGGGCGCAGTCTGGGAGCGAAGCTGAGTCCAGGGCAGAGTCTGAGTCTGCAGTGTAGATGCTCTGGATCCTACTTCAATCCTGAATTCAGACAACTGTACTCTGAGGGCAGAGGGCAGTTTGAAGTCACTTCAGAGCAAGAGGTACAGATTGGGGGGCTGGGTTCCAGGGCAGGGGGCCTACAGCGAAGAGATGGCAGCTGATGAAGAGAGATTTGGGAAGCTGGTTCCATGCATCTTTCTCATCGTTCCAGTGTCTCAGCGTCTGGGTGTATTAGTGTACATGCCAGTGCAGGTCACATTCGTCCATGTGTCTCCTAGTTCCAAGTTCTGTTTTGCATCTGTAAAGATCTGCCAGTACCTGGGGGTGTCTGCAGTCTGAGTGCATGTGTGGGCAGTGGGTTGTTCGGGCAGTGGGTTGTGTGGGCAGTGGGTTGTGCGGGCAGTGGGTTGTGCGGGCAGTGGGTTGTGCATCCGGATGTGTAGCACTCACACACTTCGGGTGACTCTTCCTGGGTAAGCTGTGGATGTGAGTGGGGGCAGCATCTGCCGTGACTCATTCTCTCCTCTTTCCATTCCAAGCCGGGTGGGGGAGTTTGGGATTTCCAGACAAGGCCTGGCTCCCCCTGGCACAGAGGGTGGGAGTGGGGATGGGGAGGGAGGAGGGAAGGGTCATGGGAAGGTGGGGCCATGTTTTGTGCTCAATGAACTGAGAAGGGGGAGGGTTCCAGCTGGAGTCAGCTGGGCCTCTGGCCCCCGCTTGACCAAACCCACTTAGGGGGCAGGGCCTGCTGGAGTCTACAGTGACACGTGAGTCCAGGATGATCTCAGGCAGCGTATCTGAAACCCTGGGACTCCCCATCTCCCTTCCTCTTCACCATCACCCTGGGAGAGCCACTCAGCTGTCGTGATTCGCCCAGGACTGCGAGGGTTCTGGGGACTTGGTACTTTCAGTTCTAAAACCAGGACAGTGCAGGGACACTGGGAGGAGTGATTACCCTACTCAAGCATCTCCTGCCTCTCTGGGATCTGAAAGCCACCAGAGTGGACCTTCTAAAAAGTAGGTAGGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGTGGGTGGATCACTTGAGGCCAGGAGTTGGAGACCAACCTGGCCAACATGGTGAAA | GCCCATCTGCTCCCATGGTCCTGGGAAGATCCCTTGTGACAAGGCACCTCCCCCGCCCCCCAGGATCCTTTCCCCGGTGCTGCCTCCCCAGCGTGGTCCCAGCTGCTCTGAGATAGGGGGCAAAGCTTCAGATTGGATGGGCGGGGAGGGGGGGGGGTTCCTTGCACTGCACAGGTGAGGGACAGTGCTCTGTGGGAATTAAGTGAGGGACCTGTTGGCACAGGCGCTGGCAGCCGGGGCCCTTTACCATGGGTTATGAGTGCTGCACCCTCCTGAGCAGTGCTGGCCACACCCAGTCCCAGGGCTGTGCCCTGCATCACCTTGGTGAATCCTTTCAACACCTCCATGAGATGGGCACTTTTTGCACCCCAGATACAAACCAGGACTGCCCGATGCCCCAAACCTGTGCCCTTTCCTGGGGGAGCTGGAAGGATGCGGGTCAGGCCACAGGACAGCCCTGCCTGGAATGCGGATGACGCCTGAGAGGCTGCCAGCCTTATCTGGGGGGCTTCACCAGAGTGGGGGAGGGAAGGGTGCAGGGTCTGAGCTGTTCTGGGGTCTGGTGAGTGTCTAGATGACAACCTGGGTGGGGGAGGGGCACCTTTGGGAGCTCCGGATGGGGGTGGGGGGAGGAATGGAGGCTGTGTCTTCTGGAGGCTCTCCTCCCCCATCCCTTACCGAGTTGTTACCAAAAGCAGCCCTTGACTGCGGTGCTGGGGAGCTGAATAGTTCAGCATTTGATGAGGGGATTCTTTTATGATCTAATTTTCAGACTGGGAAACGGAGGCTCTGTAGGAGAAATGACTTACCCAGGGTCTCATAGCTAGGAACTTTCTGAGCTGAAATTGAACCCAGGTCTGTTTCACTTCAAAGCTCAAGTTCTCACCTGGGCATTGTGGTGACAAGGCTCTCAGGAAGGCAGGAGGAGAGGAAGGGGGATGAGGATCTCTGGGCGTGGCTTCCAAGCCGGTTGGTGACCCTCTGTTAGAGCCCCGGTGCTGGAAGCATCATGGTGGCCAGGGGCAGGTGTCCGTGAGCCATCTCAATACCTGCTCTGTACCATGCGACCTTGGCCAGGCCGGCCACTCAGGTGTTTGCTGATGGGGGATGAAATTAGGGCCAGGGACCCTCTAGAAGTTCCTAGGCCAGTGGCTGGCAGGGGGTGGGTAGTGATGTGGAGAAGGGGTAGGAATGAGACCAGCGGAGCACACGATCCCTGCTTTTGAAGTTGTCCACCCATCCTCCAGAGGTTGAGGTCGGGCCCATCTCCAGTTTCACCCAGGGATGGAGTTACCAGACCCCTGGCAGAAGAGGTGGAGGGGGCAGTGGGAGGAGCCTCACCCTCTGGGGCCTCCTTGGATGGATGGGGCCTGCAGGAGGGAGACCCCTCCCCAGGTGGAGCTGAAATAATCCAGATAGACCTTGAAGCCTGTCCCAGCGAACACTAACTTGCTGTGTGAAGTGGACAGGGCTGGGCAGGCTCAGCAAGCCTTCACTTTCTTTCCTGGGCCTCCTTTTGCTGTCTGGTGCAATGGGCATGACGGATACTGCCTCAAAGGGGGACTGCAGGGACAAGACAGTGGAGGGAAGCTCACGGGGCTCAGGGAACCTCTGCTCACTAATCCTGCCCAGAAGCCAGACATCCTTGGTGCTGTTTCTCTGCTATATAGGCTCTCCTAAAACCGTTCCCAGTTCTGGGTGCAGATGTGTGCAGCTTACTGGGACCTGGCTTGCAGACCCCTGGCCCTCTGTCCATACTGTGCATGCAGAGACCCACGTTGCTTTTGGGGTCTGGGGTGGGCCTGAGAGGGTGGGGAGGAGATTGTCCTTGTAACCTCTGCCCACCCTGCCCAGCCAGTTTCTTCTTTCTACAGGGACGGTGCCTTCAGAGCCCCCCAGTGCCTGTGCCTCAGACCCGTGCGCTCCAGGGACCGAGTGCCAGGCTACCGAGAGTGGTGGCTATACCTGTGGGCCCATGGAGCCCCGGGGCTGTGCCACCCAGCCATGCCACCACGGCGCTCTGTGTGTGCCCCAGGGTCCAGATCCCAATGGCTTCCGCTGCTACTGCGTGCCGGGTTTCCAGGGCCCACGCTGCGAGCTGGACATCGATGAGTGTGCATCCCGGCCGTGCCACCATGGGGCCACCTGCCGCAACCTGGCCGATCGCTACGAGTGCCATTGCCCCCTTGGCTATGCAGGTAACAGCCTGGGCCGCCCTGGGAGGAGGTCTGTAATGCAGATCGCATCAGCTGCTCAGAGTGTAAGCATCATGGCTTCAGCTTTGCCTTTCGTGTAGGGACGCCCCCAGGCATCCGGGCAGCTCTAGGGTATATCCACTTGGTCTGACTACAGAACTGATGCCTGGCAGCTCTGGGTGAGAGTATGTATGTGCGGGTGCTGGCGTGGTGTGTGGCGCATCTCAGGCACTCGGTAAATGTGATTTCAGTCCAGCCTAGAGTTCAGTTTGGCTGCGGGGGTGGAATACCCCTCATTCATCTCTGGCAGTGTGAACCTGCCTGGCGTGACTTTAGTGAGGATGCCCAGATAGTCTTTCTAGCACTTCAGGCCTGTGCCAAGCTGTCATGTAGACACTGTCTACACGACAGTCACCATCAGCTCATTTGAACACTCCTGATGTGGTCTGGAGTGCAATGTGGACCCCTGGCCTCTGGGTCTCCCCCAGAGTTCTAGCATAGACATACAAGGTCTCGTTCAAACTGTAGTGTTGACATACCCCAGGGATCGCTGCTGTCTGGAGTGGGATAATATATACGTAAGTGCTCAGAAAAGTGACTGGCACTAAGGGTACCTTCTCCAGAGTGTGGCCCGTCCCAGGCCCACCCATGGTCTGAGCCGAGAACATCCTGGAGCGGCTTCCCAGAGAGGCCTGAAGTCGGGAAGGAGGGCGCAGCTGGGGACAGAAGGGGCGCAGTCTGGGAGCGAAGCTGAGTCCAGGGCAGAGTCTGAGTCTGCAGTGTAGATGCTCTGGATCCTACTTCAATCCTGAATTCAGACAACTGTACTCTGAGGGCAGAGGGCAGTTTGAAGTCACTTCAGAGCAAGAGGTACAGATTGGGGGGCTGGGTTCCAGGGCAGGGGGCCTACAGCGAAGAGATGGCAGCTGATGAAGAGAGATTTGGGAAGCTGGTTCCATGCATCTTTCTCATCGTTCCAGTGTCTCAGCGTCTGGGTGTATTAGTGTACATGCCAGTGCAGGTCACATTCGTCCATGTGTCTCCTAGTTCCAAGTTCTGTTTTGCATCTGTAAAGATCTGCCAGTACCTGGGGGTGTCTGCAGTCTGAGTGCATGTGTGGGCAGTGGGTTGTTCGGGCAGTGGGTTGTGTGGGCAGTGGGTTGTGCGGGCAGTGGGTTGTGCGGGCAGTGGGTTGTGCATCCGGATGTGTAGCACTCACACACTTCGGGTGACTCTTCCTGGGTAAGCTGTGGATGTGAGTGGGGGCAGCATCTGCCGTGACTCATTCTCTCCTCTTTCCATTCCAAGCCGGGTGGGGGAGTTTGGGATTTCCAGACAAGGCCTGGCTCCCCCTGGCACAGAGGGTGGGAGTGGGGATGGGGAGGGAGGAGGGAAGGGTCATGGGAAGGTGGGGCCATGTTTTGTGCTCAATGAACTGAGAAGGGGGAGGGTTCCAGCTGGAGTCAGCTGGGCCTCTGGCCCCCGCTTGACCAAACCCACTTAGGGGGCAGGGCCTGCTGGAGTCTACAGTGACACGTGAGTCCAGGATGATCTCAGGCAGCGTATCTGAAACCCTGGGACTCCCCATCTCCCTTCCTCTTCACCATCACCCTGGGAGAGCCACTCAGCTGTCGTGATTCGCCCAGGACTGCGAGGGTTCTGGGGACTTGGTACTTTCAGTTCTAAAACCAGGACAGTGCAGGGACACTGGGAGGAGTGATTACCCTACTCAAGCATCTCCTGCCTCTCTGGGATCTGAAAGCCACCAGAGTGGACCTTCTAAAAAGTAGGTAGGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGTGGGTGGATCACTTGAGGCCAGGAGTTGGAGACCAACCTGGCCAACATGGTGAAA | benign | 149,847 |
Does the variant on chromosome 9 at location 123367161 affecting gene CRB2 (crumbs cell polarity complex component 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | ATTAGCCGGGTGAGGTGGCATGCACCTGTAATCCCAGCTACTCTGCAATCTGAGGCACAAGAATCACTTGAACCCAGTGGGCAGAGATTGCAGTGGGCTAAGATTGCAGCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAATAAAAAACAAAAACAAACCCAAAACAACTAACTAAAATGTAGGTGGGACCAAGTCACTTACCTGTCTGAAACTTTCAGGATGGACCCAGAGGTTACCTGGTCCCCAAGGCACTGACACCTCCCACCCGACTCACCTCCGCCACCCTCTCCCTTGCTTCCAACCCTCCAATAACCCCGCCTAGGGCATCATGGCCCTGCCCCTAGTGGAACTTGCCTCTTGCTGCAGTCTCTTTGGAATCCAACTGCTGCCCACAGTCCCCTATCTGAATCCTTCAAAAGCCTCTTCTTCTAGGAAGCCTTCCCTGAACAGAGCAGACCCCGGCTATTGCTTTCCCAAGACCCAACCCCTTTCCTTGTTGAACTTGGCAACATCACCTAGCTCATTTAGGTAATTACTGGCTGAATCACCCCCCACCATGTCCTGGCCTAGACTGCTGTGAGCCCCATGAAGGCAGGGCTGTCTGTCTCGTTTCTCTCCCTGCGGTTGCTGGCATGACCCGTCCCCCACCCCCCAACCACCACCACCACCATCCGGCTCTGAATGAATGAATCCACGAGTCTCTAACTCTGGAGCAGGCCTGGCGCGACCTCTTCCGCCCTGCTCTGGGTGTCCATCCTGCACCCTGTGTGTCCCCTGCCCTGTCCAGGCGTGACCTGCGAGATGGAGGTGGACGAGTGCGCCTCAGCGCCCTGCCTGCACGGGGGCTCGTGCCTGGACGGCGTGGGCTCCTTCCGCTGTGTGTGCGCGCCAGGCTACGGGGGCACCCGTTGCCAGCTGGACCTCGACGAGTGCCAGAGCCAGCCGTGCGCACATGGGGGCACGTGCCACGACCTGGTCAACGGGTGAGCGAGCGGCGGGGCAGGCGGCAGGGGCGCCGGGTGCCCGAGGGCGGGGAGGCCAGGCGCGGGGCAGAAGGGGCAGGCGCGCGCTCAGCTCCGCCGGTGCGCCCTCCCCAGGTTCCGGTGCGACTGCGCGGGCACCGGCTACGAGGGCACGCACTGCGAGCGGGAGGTGCTGGAGTGCGCATCGGCGCCCTGCGAGCACAACGCGTCCTGCCTCGAGGGCCTCGGGAGCTTCCGCTGCCTCTGTTGGCCAGGTGTGTGCGTGCAGGTGCGCGGCCTGGCGGGGGGAGGGGTAGGTGTGCGCCTGTGCGGCCTGGGGCGGTGGGGCAGGTGTGTGGCTGCACGCGAGTGCCCGCTGGGTCCTCGGGACCAGAGTGTGTGTGTGATTGCAACCTGTCGGAGCCTCAGTTTCCTGATCTACAAAATAGGGCTGATCGTAGCGCCTGCTCCTGGGGTTGCTGCGGGGAGCTCGAAGGTGCGACGCCTGGGAAGCCCTTGGGGAGGGCCTGACAGCTGCAAAGGGCTCAGTAATTAATGCTAGTAATAGTAGTAAGACTAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATTGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAAGCATGGTGGCATGTACCTGTAGTCCTAGCTACTCAGGAAGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTGAGCAGAGATCATGCCGCTGCACTCCAGCCTGGGCAACAGAGTGAGATTCTATCTCAAAAAAAAAAAAAAAAAATTAGTAGTAAGACTAGTAATAGCAGTAATAGGCCACTGCTGCTGAAGGCTGCCGTGGTCATTCCTGCGGCCCTTAGTGTGTCCCTCCCTCGCCATTCGTGGCTTATTCCGAGCTGCGGTCCCTTGCTGGCCCTCGCTAGCCTGGTCATAGTGAAGAGGTGCTGCCCGGCAACCCCGTGAGACCTGATGTCCGCGTGTGTGTGCCCCCAGGCTACAGCGGCGAGCTGTGCGAGGTGGACGAGGACGAGTGTGCATCGAGCCCCTGCCAGCATGGGGGCCGATGCCTGCAGCGCTCTGACCCGGCCCTCTACGGGGGTGTCCAGGCCGCCTTCCCTGGCGCCTTCAGCTTCCGCCATGCTGCGGGTTTCCTGTGCCACTGCCCTCCTGGCTTTGAGGGTGAGCCCCTGCTGGGGAAGCGGTCAGCCCATGTCCAGATGCCCAGGGAGGGATCTTGTGCCCACCCCCCCACCCCCCCCACCCCCCCACCCCACACCCCACACCCGAGTCTGCCCTCTCTCTTGGACTCAGTCTCTCTAGCTATAGAATGGACCCTCTCAGCCCCTGCCTGGCTCTGAGGGTGCAGGTGGGACCCACAGCTGGGCCTCTTACAGGAGCCGACTGCGGTGTGGAGGTGGACGAGTGTGCCTCACGGCCATGCCTCAACGGAGGCCACTGCCAGGACCTGCCCAATGGCTTCCAGTGTCACTGCCCAGATGGCTACGCAGGTGTCTGGGGTGGGGTGGGCCCTGGGACCATCAGAATTGGTGGTCCTCAGGTGAGAAGGTCCCTTCTGTCTGGATGTGTGGATTGATGGGGTCAAGGAGATCAGGGAGGAGGTGGGTATGGTGGCCCAGGTGACCGCTGAGGGTGGCTGAACTGGGACTCGCTTTGGAGGTGAGACTGGGGCTCAGGAGTGTAGTCCTGGCAGCTGGGGCCATAGTGGGCTGAGGTTGTCTGGGAGAACGTGTGGAGGGATGGTCTTCAGGGAAGACGGAGGTGGTTCAGCCAGGACAGAGAAGGAAAGGGGGGCTATTGCAGAGAGTTAGGGGGCAGCATCTGTAGAAGGATGACTCTGACCTTTGGGGAGCTGGGGCCTGTCAGGCAGGAGTTGGGGGTTCAGAAGTCTGCCCCTGCCTTGGGTACACGCAGATGCACAGACACAGGACCCCGGTGAGCCCAGGGAGCTCCACCGCCAACACTGAACGTCCCTGCCCCCTCTGGAATGCCTGCGACACCTCCCTCACACCCGCCCGCATTCCTGCTGGGGCACACTGCCTCCTCCCCCTGGCAGGCTCCTGGGCACAGGCTCCTCCACCAGGGGAAAGAGATGGTGGTCACCTCTTCCCCTCTCTCACTCGCCTGAAGATGGTGGGACTCAGTGTCCCCCAGCCCTGGATGGCTGACACTCCTGGGGGTCCCGAAGGCCCATCCACTGCCTCCATGGGCCGAGGTTCCCCAAGTCCTGCTCCAAGAGCCATGGCCTCCTGGGTACCTGGCACACAGTGGGCCCACACAGCACGTCTGGCCTCTGGGAAGCATTTGCTCTGCATTTTGTTTTTTCCTTGCCACAGCCCCATGAGGCAGGGGTTTAAAACCCCATCTTACAGCTGAGAGGATGAGGGGGTGTCATCCCCCAGGTTCACCACTATCAGCGGGAACCCGGCTCCTCTCCCAGTTGAGCTCACTGTTGGGTGACAGGGAGGGCAGACCTCTGAGGTCAGAGCCAGGGAGGGGGGACCCCAGCTGCAGGGCTGGGCTCTTTGCCCATCCTCCCTCCCTTTAGGCCATGCTGGGCATGGGGGAGGCCAGTGCCTGGCATTCCTGAGCAGGCTCCGAAGGAGGCAGCTGGGCCAGGCAGGGAGCTCTGCCTCCTCCCCACTTCCCCAGCCTCAGTGCCCGCCCACCACTCTCAACCTGTCTGGAGGGCATGGCAATGGAGCCGGGGGCTCTGTGGACCTTCCTGGGCCACCTGTGGCTCCTGGCAGGTATGGAGGAATGTGGGCCCTGGGCAGGGGGAGGTTGGTGGGTGGTGGTTCCTAGGAAGAGGCTGTGGTGTTTGTGAGCTGATCGAGGCTGGGCTTCAAACCCTGGTGACTTCTCTGGGCCTGGGTTCCTCCAGCTGGGATGTGGCTCTGGCTGAGCTACAGTGGGCTATGGCTTCTGGACCCAAGCTGGGGCCTGAGCACCTGAAGGGATCCCTAGAGGGAGGATGAGGCAGCCCCTTCACAGCCAGTGTGGGGGCCCTGG | ATTAGCCGGGTGAGGTGGCATGCACCTGTAATCCCAGCTACTCTGCAATCTGAGGCACAAGAATCACTTGAACCCAGTGGGCAGAGATTGCAGTGGGCTAAGATTGCAGCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAATAAAAAACAAAAACAAACCCAAAACAACTAACTAAAATGTAGGTGGGACCAAGTCACTTACCTGTCTGAAACTTTCAGGATGGACCCAGAGGTTACCTGGTCCCCAAGGCACTGACACCTCCCACCCGACTCACCTCCGCCACCCTCTCCCTTGCTTCCAACCCTCCAATAACCCCGCCTAGGGCATCATGGCCCTGCCCCTAGTGGAACTTGCCTCTTGCTGCAGTCTCTTTGGAATCCAACTGCTGCCCACAGTCCCCTATCTGAATCCTTCAAAAGCCTCTTCTTCTAGGAAGCCTTCCCTGAACAGAGCAGACCCCGGCTATTGCTTTCCCAAGACCCAACCCCTTTCCTTGTTGAACTTGGCAACATCACCTAGCTCATTTAGGTAATTACTGGCTGAATCACCCCCCACCATGTCCTGGCCTAGACTGCTGTGAGCCCCATGAAGGCAGGGCTGTCTGTCTCGTTTCTCTCCCTGCGGTTGCTGGCATGACCCGTCCCCCACCCCCCAACCACCACCACCACCATCCGGCTCTGAATGAATGAATCCACGAGTCTCTAACTCTGGAGCAGGCCTGGCGCGACCTCTTCCGCCCTGCTCTGGGTGTCCATCCTGCACCCTGTGTGTCCCCTGCCCTGTCCAGGCGTGACCTGCGAGATGGAGGTGGACGAGTGCGCCTCAGCGCCCTGCCTGCACGGGGGCTCGTGCCTGGACGGCGTGGGCTCCTTCCGCTGTGTGTGCGCGCCAGGCTACGGGGGCACCCGTTGCCAGCTGGACCTCGACGAGTGCCAGAGCCAGCCGTGCGCACATGGGGGCACGTGCCACGACCTGGTCAACGGGTGAGCGAGCGGCGGGGCAGGCGGCAGGGGCGCCGGGTGCCCGAGGGCGGGGAGGCCAGGCGCGGGGCAGAAGGGGCAGGCGCGCGCTCAGCTCCGCCGGTGCGCCCTCCCCAGGTTCCGGTGCGACTGCGCGGGCACCGGCTACGAGGGCACGCACTGCGAGCGGGAGGTGCTGGAGTGCGCATCGGCGCCCTGCGAGCACAACGCGTCCTGCCTCGAGGGCCTCGGGAGCTTCCGCTGCCTCTGTTGGCCAGGTGTGTGCGTGCAGGTGCGCGGCCTGGCGGGGGGAGGGGTAGGTGTGCGCCTGTGCGGCCTGGGGCGGTGGGGCAGGTGTGTGGCTGCACGCGAGTGCCCGCTGGGTCCTCGGGACCAGAGTGTGTGTGTGATTGCAACCTGTCGGAGCCTCAGTTTCCTGATCTACAAAATAGGGCTGATCGTAGCGCCTGCTCCTGGGGTTGCTGCGGGGAGCTCGAAGGTGCGACGCCTGGGAAGCCCTTGGGGAGGGCCTGACAGCTGCAAAGGGCTCAGTAATTAATGCTAGTAATAGTAGTAAGACTAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATTGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAAGCATGGTGGCATGTACCTGTAGTCCTAGCTACTCAGGAAGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTGAGCAGAGATCATGCCGCTGCACTCCAGCCTGGGCAACAGAGTGAGATTCTATCTCAAAAAAAAAAAAAAAAAATTAGTAGTAAGACTAGTAATAGCAGTAATAGGCCACTGCTGCTGAAGGCTGCCGTGGTCATTCCTGCGGCCCTTAGTGTGTCCCTCCCTCGCCATTCGTGGCTTATTCCGAGCTGCGGTCCCTTGCTGGCCCTCGCTAGCCTGGTCATAGTGAAGAGGTGCTGCCCGGCAACCCCGTGAGACCTGATGTCCGCGTGTGTGTGCGTGCCCCCAGGCTACAGCGGCGAGCTGTGCGAGGTGGACGAGGACGAGTGTGCATCGAGCCCCTGCCAGCATGGGGGCCGATGCCTGCAGCGCTCTGACCCGGCCCTCTACGGGGGTGTCCAGGCCGCCTTCCCTGGCGCCTTCAGCTTCCGCCATGCTGCGGGTTTCCTGTGCCACTGCCCTCCTGGCTTTGAGGGTGAGCCCCTGCTGGGGAAGCGGTCAGCCCATGTCCAGATGCCCAGGGAGGGATCTTGTGCCCACCCCCCCACCCCCCCCACCCCCCCACCCCACACCCCACACCCGAGTCTGCCCTCTCTCTTGGACTCAGTCTCTCTAGCTATAGAATGGACCCTCTCAGCCCCTGCCTGGCTCTGAGGGTGCAGGTGGGACCCACAGCTGGGCCTCTTACAGGAGCCGACTGCGGTGTGGAGGTGGACGAGTGTGCCTCACGGCCATGCCTCAACGGAGGCCACTGCCAGGACCTGCCCAATGGCTTCCAGTGTCACTGCCCAGATGGCTACGCAGGTGTCTGGGGTGGGGTGGGCCCTGGGACCATCAGAATTGGTGGTCCTCAGGTGAGAAGGTCCCTTCTGTCTGGATGTGTGGATTGATGGGGTCAAGGAGATCAGGGAGGAGGTGGGTATGGTGGCCCAGGTGACCGCTGAGGGTGGCTGAACTGGGACTCGCTTTGGAGGTGAGACTGGGGCTCAGGAGTGTAGTCCTGGCAGCTGGGGCCATAGTGGGCTGAGGTTGTCTGGGAGAACGTGTGGAGGGATGGTCTTCAGGGAAGACGGAGGTGGTTCAGCCAGGACAGAGAAGGAAAGGGGGGCTATTGCAGAGAGTTAGGGGGCAGCATCTGTAGAAGGATGACTCTGACCTTTGGGGAGCTGGGGCCTGTCAGGCAGGAGTTGGGGGTTCAGAAGTCTGCCCCTGCCTTGGGTACACGCAGATGCACAGACACAGGACCCCGGTGAGCCCAGGGAGCTCCACCGCCAACACTGAACGTCCCTGCCCCCTCTGGAATGCCTGCGACACCTCCCTCACACCCGCCCGCATTCCTGCTGGGGCACACTGCCTCCTCCCCCTGGCAGGCTCCTGGGCACAGGCTCCTCCACCAGGGGAAAGAGATGGTGGTCACCTCTTCCCCTCTCTCACTCGCCTGAAGATGGTGGGACTCAGTGTCCCCCAGCCCTGGATGGCTGACACTCCTGGGGGTCCCGAAGGCCCATCCACTGCCTCCATGGGCCGAGGTTCCCCAAGTCCTGCTCCAAGAGCCATGGCCTCCTGGGTACCTGGCACACAGTGGGCCCACACAGCACGTCTGGCCTCTGGGAAGCATTTGCTCTGCATTTTGTTTTTTCCTTGCCACAGCCCCATGAGGCAGGGGTTTAAAACCCCATCTTACAGCTGAGAGGATGAGGGGGTGTCATCCCCCAGGTTCACCACTATCAGCGGGAACCCGGCTCCTCTCCCAGTTGAGCTCACTGTTGGGTGACAGGGAGGGCAGACCTCTGAGGTCAGAGCCAGGGAGGGGGGACCCCAGCTGCAGGGCTGGGCTCTTTGCCCATCCTCCCTCCCTTTAGGCCATGCTGGGCATGGGGGAGGCCAGTGCCTGGCATTCCTGAGCAGGCTCCGAAGGAGGCAGCTGGGCCAGGCAGGGAGCTCTGCCTCCTCCCCACTTCCCCAGCCTCAGTGCCCGCCCACCACTCTCAACCTGTCTGGAGGGCATGGCAATGGAGCCGGGGGCTCTGTGGACCTTCCTGGGCCACCTGTGGCTCCTGGCAGGTATGGAGGAATGTGGGCCCTGGGCAGGGGGAGGTTGGTGGGTGGTGGTTCCTAGGAAGAGGCTGTGGTGTTTGTGAGCTGATCGAGGCTGGGCTTCAAACCCTGGTGACTTCTCTGGGCCTGGGTTCCTCCAGCTGGGATGTGGCTCTGGCTGAGCTACAGTGGGCTATGGCTTCTGGACCCAAGCTGGGGCCTGAGCACCTGAAGGGATCCCTAGAGGGAGGATGAGGCAGCCCCTTCACAGCCAGTGTGGGGGCC | benign | 149,867 |
A genetic variant at chromosome 9, position 123372184, affecting gene CRB2 (crumbs cell polarity complex component 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Inborn_genetic_diseases'] | ATGCCTGTCGGATCCCTGCCTGCACGGCGGAACCTGCAGTGACACTGTGGCAGGCTATATCTGCAGGTGCCCAGAGACCTGGGGTGGGCGCGACTGTTCTGTGCAGCTCACTGGCTGCCAGGGCCACACCTGCCCGCTGGCTGCCACCTGCATCCCTATCTTCGAGTCTGGGGTCCACAGTTACGTCTGCCACTGCCCACCTGGTACCCATGGACCGTTCTGTGGCCAGAATACCACCTTCTCTGTGATGGCTGGGAGCCCCATTCAGGCATCAGTGCCAGCTGGTGGCCCCCTGGGTCTGGCACTGAGGTTTCGCACCACACTGCCCGCTGGGACCTTGGCCACTCGCAATGACACCAAGGAAAGCTTGGAGCTGGCATTGGTGGCAGCCACACTTCAGGCCACACTCTGGAGCTACAGCACCACTGTGCTTGTCCTGAGACTGCCGGACCTGGCCCTAAACGATGGCCATTGGCACCAGGTGGAGGTTGTGCTCCATCTAGCGACCCTGGAGCTACGGCTCTGGCATGAGGGCTGCCCTGCCCGGCTCTGTGTGGCCTCTGGTCCTGTGGCCCTGGCTTCCACGGCTTCGGCAACTCCGCTGCCTGCCGGGATCTCCTCTGCCCAGCTGGGGGACGCGACCTTTGCAGGCTGCCTCCAGGACGTGCGTGTGGATGGCCACCTCCTGCTGCCTGAGGATCTCGGTGAGAACGTCCTCCTGGGCTGTGAGCGCCGAGAGCAGTGCCGGCCTCTGCCTTGTGTCCACGGAGGGTCCTGTGTGGATCTGTGGACTCATTTCCGTTGCGACTGTGCCCGGCCCCATAGAGGTCCCACGTGCGCTGATGGTGAGGAATAAGCCAGGTGGGAAGGCAGCACCTGAGATCTGCCTCCCTCAGCCTGCAGGCCTCACACCTGGCACCTTCTCTCCCTGCAGAGATTCCTGCTGCCACCTTTGGCTTGGGAGGCGCCCCAAGCTCTGCCTCCTTTCTGCTCCAAGAGCTGCCAGGTCCCAACCTCACAGTGTCTTTCCTTCTCCGCACTCGGGAGTCCGCTGGCCTGTTGCTCCAGTTTGCCAATGACTCCGCAGCTGGCCTAACAGTATTCCTGAGTGAGGGTCGGATCCGGGCTGAGGTGCCGGGCAGTCCTGCTGTAGTGCTCCCTGGGCGCTGGGATGATGGGCTCCGTCACCTGGTGATGCTCAGCTTCGGGCCTGACCAGCTGCAGGACCTGGGGCAGCACGTGCACGTGGGTGGGAGGCTCCTTGCTGCCGACAGCCAGCCCTGGGGTGGGCCCTTCCGAGGCTGCCTCCAGGACCTGCGACTCGATGGCTGCCACCTCCCCTTCTTTCCTCTGCCACTGGATAACTCAAGCCAGCCCAGCGAGCTCGGCGGCAGGCAGTCCTGGAACCTCACTGCGGGCTGCGTCTCCGAGGACATGTGCAGTGTAAGTGTCTGGTGGCGGTGGTGGTGGTGGGGTGGGGAGTCCTTTTCCCAGGATCTGTCCTGTGTCACCGGGGCTTAGTGTGTCCTTTTGCTGATGAGGAAACTGAGGCTCAGGAGGTGAAGTGACCTGCCCAGGGTCCCACTACAGGAGGGTGGCAGGGCAGATTTACATCTGTCTCTTCAGCCCAGCTGCTCCTACCCTCTGGCGGTCCCCGTGTCTCCCCGAGCTAGTCCTGGTGTGAGAGAGACACCCTGACCGAGATAGAGAGCTGCCTGAGCCTTTCTGCAGGAGCTACTTGGGGAGCGGGACACGCTTTTGATCATGAACAGAATTCCACCAACCCTGGAGTTAGAACAGCTTGGGCATGAATTCTGGTTCCTCTCTTTACTGGCTGGGTGACTCAGGCAAGTGGCTTTGCATCACTGAGCCTCAGTTTTCTCATCTGTAAAATGGGGATCTTAGCGACTTCCTCTCCCCTCGTTTGTGAGGAGATACTGTGTCTGTAGTAGGTGCTCAGCGAAGAAGCACTGCAATGCCAGTTATGGTGGGTGATGCTCACTGCAGTCCTGAGCCAACCCCTGCCCTGCCTCTCCCACAGCCTGACCCCTGTTTCAATGGTGGGACTTGCCTCGTCACCTGGAATGACTTCCACTGTACCTGCCCTGCCAATTTCACGGGGCCTACGTGTGCCCAGCAGCTGTGGTGTCCCGGCCAGCCCTGTCTCCCACCTGCCACGTGTGAGGAGGTCCCTGATGGCTTTGTGTGTGAGTGTGTGTCCTGGGCAGCTCCCGTGCTGGGTGCTGGACACCTAAGCTGGTTAGATCCCATCTGCACTCTCAGGGCTTGTAGGATACTGGTGGACCAGGCATGCCAAGCCCTAGGGCAGTGTGGCGGGGCCACCGCATGTAGAGGGACAGAGTTTCTGGAGAAGGTGAGCCTGTACTGGGCTTCAGGGCCAGACTCTGAGAGCCACAGGGGGAAGGATATTTTATGGAGTGGCATAGCATGTGCCAAGTCCCTGAGGTCTGCAAGGACAGTGGAAGTGCAAGGGGGTGAGCAGGAATGGGGTGGGAAAGTTGGTAGGGGCTTTGAGGACACCCAGCTAGGCGGCTCTGACTTTATCCCAAGGACAGTGGGGAGCCTCTGGAGGGTTTTAAACAGGAGAGGGGCATGACCAGATCTGCATTTTACAAAGATGACTGGCTGCAGTGAAGGGCAAGCCTCGGCCATGAGGTGGGGCAGCTTCACGGAGAAGGGAAGGGGCCAGATTCTGCCAGGAGTTGCTGTTGCCTGGCTTGTGACCTGGAGGGTCGCCTAGGCATCACGCCCCACCCCCCAGCACTGGCCGGGAACTGCTCCTCCATGGGTAGGAAATACATTGGGAGTAGAAGTGAGGGTGGTGGGGGCGGCTGCAGTTTCCAGGATTAGATGATAGGTGGGTGCGTGTGCCCCACCCCAAGTAAGTGGCTGTCTGCCACTCGCTGGGGGAAGTGGGGAGGTGGCATTTCTGGAGAAGGCTCCGTGGGCTATTCCCTGAGGCTCCTTCTCTCCGCAGGTGTGGCGGAGGCCACGTTCCGCGAGGGTCCCCCCGCCGCGTTCAGCGGGCACAACGCGTCGTCAGGGCGCTTGCTCGGCGGCCTGTCGCTGGCCTTTCGCACGCGCGACTCCGAGGCCTGGCTGCTGCGTGCCGCGGCGGGCGCCCTGGAAGGCGTGTGGCTGGCGGTGCGCAATGGCTCGCTGGCGGGGGGCGTGCGCGGAGGCCATGGCCTGCCCGGCGCTGTGCTGCCCATACCGGGGCCGCGCGTGGCCGATGGTGCCTGGCACCGCGTGCGTCTGGCCATGGAGCGCCCGGCGGCCACCACCTCGCGCTGGCTGCTGTGGCTGGATGGTGCCGCCACCCCGGTGGCGCTGCGCGGCCTGGCCAGTGACCTGGGCTTCCTGCAGGGCCCGGGTGCTGTGCGCATCCTGCTGGCTGAGAACTTCACCGGCTGCTTGGGCCGCGTGGCGCTGGGCGGCCTGCCCCTGCCCTTGGCGCGGCCCCGGCCCGGCGCGGCCCCTGGCGCCCGAGAGCACTTCGCGTCTTGGCCTGGGACGCCGGCCCCGATCCTCGGCTGCCGCGGCGCGCCCGTGTGTGCGCCCTCGCCCTGTCTGCACGACGGTGCCTGCCGTGACCTCTTCGACGCCTTTGCCTGCGCCTGCGGCCCGGGGTGGGAAGGCCCGCGCTGCGAAGCCCACGTCGACCCCTGTCACTCCGCCCCCTGCGCCCGTGGCCGCTGTCACACGCACCCCGACGGCCGCTTCGAGTGCCGCTGCCCGCCTGGCTTCGGGGGCCCGCGCTGCAGGTGGGATGGCTGGGCAGGGGGGTGGGCTGCGAATGCCCCCTGGGGCTATGGTGGGGCAGAGAAGTCTGCCAGGTCTGTGGATGAGTCGCTTCCCTTCCCTGGTCCTCATGTCCTTATCTGTGACATGAGGAGGACAGTTTAATTTGATAAATTTCCTGATAAAATACAGATCAAAACACAACCAGTTAGCCTGGAATTTCAGATAAACAGCGCTGTGGTCTGGGGCTGGGAGCCGCCTGCCGCTTACACGGAGGTTCATCCCTATTGGTGGCTGGTTGGGGTGGAGGGAGGGGGTCAGGCTTTGGCGCTTC | ATGCCTGTCGGATCCCTGCCTGCACGGCGGAACCTGCAGTGACACTGTGGCAGGCTATATCTGCAGGTGCCCAGAGACCTGGGGTGGGCGCGACTGTTCTGTGCAGCTCACTGGCTGCCAGGGCCACACCTGCCCGCTGGCTGCCACCTGCATCCCTATCTTCGAGTCTGGGGTCCACAGTTACGTCTGCCACTGCCCACCTGGTACCCATGGACCGTTCTGTGGCCAGAATACCACCTTCTCTGTGATGGCTGGGAGCCCCATTCAGGCATCAGTGCCAGCTGGTGGCCCCCTGGGTCTGGCACTGAGGTTTCGCACCACACTGCCCGCTGGGACCTTGGCCACTCGCAATGACACCAAGGAAAGCTTGGAGCTGGCATTGGTGGCAGCCACACTTCAGGCCACACTCTGGAGCTACAGCACCACTGTGCTTGTCCTGAGACTGCCGGACCTGGCCCTAAACGATGGCCATTGGCACCAGGTGGAGGTTGTGCTCCATCTAGCGACCCTGGAGCTACGGCTCTGGCATGAGGGCTGCCCTGCCCGGCTCTGTGTGGCCTCTGGTCCTGTGGCCCTGGCTTCCACGGCTTCGGCAACTCCGCTGCCTGCCGGGATCTCCTCTGCCCAGCTGGGGGACGCGACCTTTGCAGGCTGCCTCCAGGACGTGCGTGTGGATGGCCACCTCCTGCTGCCTGAGGATCTCGGTGAGAACGTCCTCCTGGGCTGTGAGCGCCGAGAGCAGTGCCGGCCTCTGCCTTGTGTCCACGGAGGGTCCTGTGTGGATCTGTGGACTCATTTCCGTTGCGACTGTGCCCGGCCCCATAGAGGTCCCACGTGCGCTGATGGTGAGGAATAAGCCAGGTGGGAAGGCAGCACCTGAGATCTGCCTCCCTCAGCCTGCAGGCCTCACACCTGGCACCTTCTCTCCCTGCAGAGATTCCTGCTGCCACCTTTGGCTTGGGAGGCGCCCCAAGCTCTGCCTCCTTTCTGCTCCAAGAGCTGCCAGGTCCCAACCTCACAGTGTCTTTCCTTCTCCGCACTCGGGAGTCCGCTGGCCTGTTGCTCCAGTTTGCCAATGACTCCGCAGCTGGCCTAACAGTATTCCTGAGTGAGGGTCGGATCCGGGCTGAGGTGCCGGGCAGTCCTGCTGTAGTGCTCCCTGGGCGCTGGGATGATGGGCTCCGTCACCTGGTGATGCTCAGCTTCGGGCCTGACCAGCTGCAGGACCTGGGGCAGCACGTGCACGTGGGTGGGAGGCTCCTTGCTGCCGACAGCCAGCCCTGGGGTGGGCCCTTCCGAGGCTGCCTCCAGGACCTGCGACTCGATGGCTGCCACCTCCCCTTCTTTCCTCTGCCACTGGATAACTCAAGCCAGCCCAGCGAGCTCGGCGGCAGGCAGTCCTGGAACCTCACTGCGGGCTGCGTCTCCGAGGACATGTGCAGTGTAAGTGTCTGGTGGCGGTGGTGGTGGTGGGGTGGGGAGTCCTTTTCCCAGGATCTGTCCTGTGTCACCGGGGCTTAGTGTGTCCTTTTGCTGATGAGGAAACTGAGGCTCAGGAGGTGAAGTGACCTGCCCAGGGTCCCACTACAGGAGGGTGGCAGGGCAGATTTACATCTGTCTCTTCAGCCCAGCTGCTCCTACCCTCTGGCGGTCCCCGTGTCTCCCCGAGCTAGTCCTGGTGTGAGAGAGACACCCTGACCGAGATAGAGAGCTGCCTGAGCCTTTCTGCAGGAGCTACTTGGGGAGCGGGACACGCTTTTGATCATGAACAGAATTCCACCAACCCTGGAGTTAGAACAGCTTGGGCATGAATTCTGGTTCCTCTCTTTACTGGCTGGGTGACTCAGGCAAGTGGCTTTGCATCACTGAGCCTCAGTTTTCTCATCTGTAAAATGGGGATCTTAGCGACTTCCTCTCCCCTCGTTTGTGAGGAGATACTGTGTCTGTAGTAGGTGCTCAGCGAAGAAGCACTGCAATGCCAGTTATGGTGGGTGATGCTCACTGCAGTCCTGAGCCAACCCCTGCCCTGCCTCTCCCACAGCCTGACCCGTTTCAATGGTGGGACTTGCCTCGTCACCTGGAATGACTTCCACTGTACCTGCCCTGCCAATTTCACGGGGCCTACGTGTGCCCAGCAGCTGTGGTGTCCCGGCCAGCCCTGTCTCCCACCTGCCACGTGTGAGGAGGTCCCTGATGGCTTTGTGTGTGAGTGTGTGTCCTGGGCAGCTCCCGTGCTGGGTGCTGGACACCTAAGCTGGTTAGATCCCATCTGCACTCTCAGGGCTTGTAGGATACTGGTGGACCAGGCATGCCAAGCCCTAGGGCAGTGTGGCGGGGCCACCGCATGTAGAGGGACAGAGTTTCTGGAGAAGGTGAGCCTGTACTGGGCTTCAGGGCCAGACTCTGAGAGCCACAGGGGGAAGGATATTTTATGGAGTGGCATAGCATGTGCCAAGTCCCTGAGGTCTGCAAGGACAGTGGAAGTGCAAGGGGGTGAGCAGGAATGGGGTGGGAAAGTTGGTAGGGGCTTTGAGGACACCCAGCTAGGCGGCTCTGACTTTATCCCAAGGACAGTGGGGAGCCTCTGGAGGGTTTTAAACAGGAGAGGGGCATGACCAGATCTGCATTTTACAAAGATGACTGGCTGCAGTGAAGGGCAAGCCTCGGCCATGAGGTGGGGCAGCTTCACGGAGAAGGGAAGGGGCCAGATTCTGCCAGGAGTTGCTGTTGCCTGGCTTGTGACCTGGAGGGTCGCCTAGGCATCACGCCCCACCCCCCAGCACTGGCCGGGAACTGCTCCTCCATGGGTAGGAAATACATTGGGAGTAGAAGTGAGGGTGGTGGGGGCGGCTGCAGTTTCCAGGATTAGATGATAGGTGGGTGCGTGTGCCCCACCCCAAGTAAGTGGCTGTCTGCCACTCGCTGGGGGAAGTGGGGAGGTGGCATTTCTGGAGAAGGCTCCGTGGGCTATTCCCTGAGGCTCCTTCTCTCCGCAGGTGTGGCGGAGGCCACGTTCCGCGAGGGTCCCCCCGCCGCGTTCAGCGGGCACAACGCGTCGTCAGGGCGCTTGCTCGGCGGCCTGTCGCTGGCCTTTCGCACGCGCGACTCCGAGGCCTGGCTGCTGCGTGCCGCGGCGGGCGCCCTGGAAGGCGTGTGGCTGGCGGTGCGCAATGGCTCGCTGGCGGGGGGCGTGCGCGGAGGCCATGGCCTGCCCGGCGCTGTGCTGCCCATACCGGGGCCGCGCGTGGCCGATGGTGCCTGGCACCGCGTGCGTCTGGCCATGGAGCGCCCGGCGGCCACCACCTCGCGCTGGCTGCTGTGGCTGGATGGTGCCGCCACCCCGGTGGCGCTGCGCGGCCTGGCCAGTGACCTGGGCTTCCTGCAGGGCCCGGGTGCTGTGCGCATCCTGCTGGCTGAGAACTTCACCGGCTGCTTGGGCCGCGTGGCGCTGGGCGGCCTGCCCCTGCCCTTGGCGCGGCCCCGGCCCGGCGCGGCCCCTGGCGCCCGAGAGCACTTCGCGTCTTGGCCTGGGACGCCGGCCCCGATCCTCGGCTGCCGCGGCGCGCCCGTGTGTGCGCCCTCGCCCTGTCTGCACGACGGTGCCTGCCGTGACCTCTTCGACGCCTTTGCCTGCGCCTGCGGCCCGGGGTGGGAAGGCCCGCGCTGCGAAGCCCACGTCGACCCCTGTCACTCCGCCCCCTGCGCCCGTGGCCGCTGTCACACGCACCCCGACGGCCGCTTCGAGTGCCGCTGCCCGCCTGGCTTCGGGGGCCCGCGCTGCAGGTGGGATGGCTGGGCAGGGGGGTGGGCTGCGAATGCCCCCTGGGGCTATGGTGGGGCAGAGAAGTCTGCCAGGTCTGTGGATGAGTCGCTTCCCTTCCCTGGTCCTCATGTCCTTATCTGTGACATGAGGAGGACAGTTTAATTTGATAAATTTCCTGATAAAATACAGATCAAAACACAACCAGTTAGCCTGGAATTTCAGATAAACAGCGCTGTGGTCTGGGGCTGGGAGCCGCCTGCCGCTTACACGGAGGTTCATCCCTATTGGTGGCTGGTTGGGGTGGAGGGAGGGGGTCAGGCTTTGGCGCTTCNN | pathogenic | 149,898 |
Clinical classification of chromosome 9, position 123373608, gene CRB2 (crumbs cell polarity complex component 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['CRB2-related_disorder', 'Focal_segmental_glomerulosclerosis_9', 'Inborn_genetic_diseases', 'Steroid-resistant_nephrotic_syndrome', 'Ventriculomegaly-cystic_kidney_disease'] | CTCCGAGGACATGTGCAGTGTAAGTGTCTGGTGGCGGTGGTGGTGGTGGGGTGGGGAGTCCTTTTCCCAGGATCTGTCCTGTGTCACCGGGGCTTAGTGTGTCCTTTTGCTGATGAGGAAACTGAGGCTCAGGAGGTGAAGTGACCTGCCCAGGGTCCCACTACAGGAGGGTGGCAGGGCAGATTTACATCTGTCTCTTCAGCCCAGCTGCTCCTACCCTCTGGCGGTCCCCGTGTCTCCCCGAGCTAGTCCTGGTGTGAGAGAGACACCCTGACCGAGATAGAGAGCTGCCTGAGCCTTTCTGCAGGAGCTACTTGGGGAGCGGGACACGCTTTTGATCATGAACAGAATTCCACCAACCCTGGAGTTAGAACAGCTTGGGCATGAATTCTGGTTCCTCTCTTTACTGGCTGGGTGACTCAGGCAAGTGGCTTTGCATCACTGAGCCTCAGTTTTCTCATCTGTAAAATGGGGATCTTAGCGACTTCCTCTCCCCTCGTTTGTGAGGAGATACTGTGTCTGTAGTAGGTGCTCAGCGAAGAAGCACTGCAATGCCAGTTATGGTGGGTGATGCTCACTGCAGTCCTGAGCCAACCCCTGCCCTGCCTCTCCCACAGCCTGACCCCTGTTTCAATGGTGGGACTTGCCTCGTCACCTGGAATGACTTCCACTGTACCTGCCCTGCCAATTTCACGGGGCCTACGTGTGCCCAGCAGCTGTGGTGTCCCGGCCAGCCCTGTCTCCCACCTGCCACGTGTGAGGAGGTCCCTGATGGCTTTGTGTGTGAGTGTGTGTCCTGGGCAGCTCCCGTGCTGGGTGCTGGACACCTAAGCTGGTTAGATCCCATCTGCACTCTCAGGGCTTGTAGGATACTGGTGGACCAGGCATGCCAAGCCCTAGGGCAGTGTGGCGGGGCCACCGCATGTAGAGGGACAGAGTTTCTGGAGAAGGTGAGCCTGTACTGGGCTTCAGGGCCAGACTCTGAGAGCCACAGGGGGAAGGATATTTTATGGAGTGGCATAGCATGTGCCAAGTCCCTGAGGTCTGCAAGGACAGTGGAAGTGCAAGGGGGTGAGCAGGAATGGGGTGGGAAAGTTGGTAGGGGCTTTGAGGACACCCAGCTAGGCGGCTCTGACTTTATCCCAAGGACAGTGGGGAGCCTCTGGAGGGTTTTAAACAGGAGAGGGGCATGACCAGATCTGCATTTTACAAAGATGACTGGCTGCAGTGAAGGGCAAGCCTCGGCCATGAGGTGGGGCAGCTTCACGGAGAAGGGAAGGGGCCAGATTCTGCCAGGAGTTGCTGTTGCCTGGCTTGTGACCTGGAGGGTCGCCTAGGCATCACGCCCCACCCCCCAGCACTGGCCGGGAACTGCTCCTCCATGGGTAGGAAATACATTGGGAGTAGAAGTGAGGGTGGTGGGGGCGGCTGCAGTTTCCAGGATTAGATGATAGGTGGGTGCGTGTGCCCCACCCCAAGTAAGTGGCTGTCTGCCACTCGCTGGGGGAAGTGGGGAGGTGGCATTTCTGGAGAAGGCTCCGTGGGCTATTCCCTGAGGCTCCTTCTCTCCGCAGGTGTGGCGGAGGCCACGTTCCGCGAGGGTCCCCCCGCCGCGTTCAGCGGGCACAACGCGTCGTCAGGGCGCTTGCTCGGCGGCCTGTCGCTGGCCTTTCGCACGCGCGACTCCGAGGCCTGGCTGCTGCGTGCCGCGGCGGGCGCCCTGGAAGGCGTGTGGCTGGCGGTGCGCAATGGCTCGCTGGCGGGGGGCGTGCGCGGAGGCCATGGCCTGCCCGGCGCTGTGCTGCCCATACCGGGGCCGCGCGTGGCCGATGGTGCCTGGCACCGCGTGCGTCTGGCCATGGAGCGCCCGGCGGCCACCACCTCGCGCTGGCTGCTGTGGCTGGATGGTGCCGCCACCCCGGTGGCGCTGCGCGGCCTGGCCAGTGACCTGGGCTTCCTGCAGGGCCCGGGTGCTGTGCGCATCCTGCTGGCTGAGAACTTCACCGGCTGCTTGGGCCGCGTGGCGCTGGGCGGCCTGCCCCTGCCCTTGGCGCGGCCCCGGCCCGGCGCGGCCCCTGGCGCCCGAGAGCACTTCGCGTCTTGGCCTGGGACGCCGGCCCCGATCCTCGGCTGCCGCGGCGCGCCCGTGTGTGCGCCCTCGCCCTGTCTGCACGACGGTGCCTGCCGTGACCTCTTCGACGCCTTTGCCTGCGCCTGCGGCCCGGGGTGGGAAGGCCCGCGCTGCGAAGCCCACGTCGACCCCTGTCACTCCGCCCCCTGCGCCCGTGGCCGCTGTCACACGCACCCCGACGGCCGCTTCGAGTGCCGCTGCCCGCCTGGCTTCGGGGGCCCGCGCTGCAGGTGGGATGGCTGGGCAGGGGGGTGGGCTGCGAATGCCCCCTGGGGCTATGGTGGGGCAGAGAAGTCTGCCAGGTCTGTGGATGAGTCGCTTCCCTTCCCTGGTCCTCATGTCCTTATCTGTGACATGAGGAGGACAGTTTAATTTGATAAATTTCCTGATAAAATACAGATCAAAACACAACCAGTTAGCCTGGAATTTCAGATAAACAGCGCTGTGGTCTGGGGCTGGGAGCCGCCTGCCGCTTACACGGAGGTTCATCCCTATTGGTGGCTGGTTGGGGTGGAGGGAGGGGGTCAGGCTTTGGCGCTTCCCTTATTCATCTGGCAGTGGCTCTCCCGGGAGCCCAGCGTGTGGAAGGGGATCTGGCTGTGGCCTGACCCCTCCCTCTCCCCTCAAGGAATGTCCAGGCGTTGTGTTTAGGAGCTGCTTTTGTTCAGAGTCCTTACACTTTGTTGTCCTGAGTCCTCTGAGACTCTGGAAAGCGAGTGCAACCCTGTGTCCCTTCCCTCCCATCAGGGACCTCAATCCCATGCCCAATAGAGGAAGGCCCTGAGTTCCATACATGAGAACACAAGCTCAGGTGGCCCACGGTCACAGCGCTGGGGAGGGCAGGTCCCAGGTGTCCTGCACCCACTCCAGCCTCTGCTCTCTCCCCAGGTTGCCTGTCCCATCCAAGGAGTGCAGCCTGAATGTCACCTGCCTCGATGGCAGCCCATGTGAGGGTGGCTCTCCCGCTGCCAACTGCAGCTGCCTGGAGGGTCTTGCTGGCCAGAGGTGGGTCTGGGGGCCTGGGAACTGTGAGGAGGTCCAATGAATGTGGAGGGCTGTTCCTCCAGCCAGGGTGGGGCGGGGGTCCTCGCCCACCTTCTCACCCCTCCCTGGTATCACAGTCACCATTGTCACTTGAGTTTCCTTCCATGACTCGCAAGACCATCCTCTGTGATACAGACTGCTGCTGGGCAGTGGTTGCCTGGTGGCAGTTCTGGAAACCCAGCCTCAGCCCGCCTGTGGGAGACCATAAAAGTGCAGATTCTGGGCCCTGCAGACAGTGGCGTCAGCGTCTGGGGCACCTGCCTTCACACAGGCTCCCGTCACCCTAATGGGATGAGAGTCCTTCTCAGTGACGGCTGCTCAGGTGGTCACCTGGCAGGGCCCAGCTGGGCAGGAGCAGCGCATGGGGACAGTGGATGGATAAGCTCTGATGCTTGCTGAAGTGGGGATGGGCAGCAGAGCAGCTGGGAGCACAAGAGGCAGCCATGGGGGAAGCCGCTTTCTCAGCCCCCCTCCCTCTCCAGGTGTCAGGTCCCCACTCTCCCCTGTGAAGCCAACCCCTGCTTGAATGGGGGCACCTGCCGGGCAGCTGGAGGGGTGTCTGAATGTATCTGCAATGCCAGATTCTCCGGCCAGTTCTGTGAAGTGGCGGTGAGTGTTGTCAGGGGTGAGGGGCCGTGGACGTGGCCTGCTGGGCCCTTGGCGAGATGCTGCTGGGGAGAGAGCGCAGCACCATGGGGCTGTTCCTGGGCCACTCTGTCATGGGGTGGGGCAGTGAGAGGAGCCTCAGGTCCCTTCCACACCCCCCACACAAGAGGTATTTCCACTGCAGGGAGAGCTTTGGGGGCTGTCACCGTCTATTGACAAGAGCACAAAGCTCCTAGCTGGGTCAGCGGCTTCCTCAGAGTGCCCAGGGCAGTGGCAGTGAGGACAGATGGTCTCTGCCAATCCAACCAGGACTCA | CTCCGAGGACATGTGCAGTGTAAGTGTCTGGTGGCGGTGGTGGTGGTGGGGTGGGGAGTCCTTTTCCCAGGATCTGTCCTGTGTCACCGGGGCTTAGTGTGTCCTTTTGCTGATGAGGAAACTGAGGCTCAGGAGGTGAAGTGACCTGCCCAGGGTCCCACTACAGGAGGGTGGCAGGGCAGATTTACATCTGTCTCTTCAGCCCAGCTGCTCCTACCCTCTGGCGGTCCCCGTGTCTCCCCGAGCTAGTCCTGGTGTGAGAGAGACACCCTGACCGAGATAGAGAGCTGCCTGAGCCTTTCTGCAGGAGCTACTTGGGGAGCGGGACACGCTTTTGATCATGAACAGAATTCCACCAACCCTGGAGTTAGAACAGCTTGGGCATGAATTCTGGTTCCTCTCTTTACTGGCTGGGTGACTCAGGCAAGTGGCTTTGCATCACTGAGCCTCAGTTTTCTCATCTGTAAAATGGGGATCTTAGCGACTTCCTCTCCCCTCGTTTGTGAGGAGATACTGTGTCTGTAGTAGGTGCTCAGCGAAGAAGCACTGCAATGCCAGTTATGGTGGGTGATGCTCACTGCAGTCCTGAGCCAACCCCTGCCCTGCCTCTCCCACAGCCTGACCCCTGTTTCAATGGTGGGACTTGCCTCGTCACCTGGAATGACTTCCACTGTACCTGCCCTGCCAATTTCACGGGGCCTACGTGTGCCCAGCAGCTGTGGTGTCCCGGCCAGCCCTGTCTCCCACCTGCCACGTGTGAGGAGGTCCCTGATGGCTTTGTGTGTGAGTGTGTGTCCTGGGCAGCTCCCGTGCTGGGTGCTGGACACCTAAGCTGGTTAGATCCCATCTGCACTCTCAGGGCTTGTAGGATACTGGTGGACCAGGCATGCCAAGCCCTAGGGCAGTGTGGCGGGGCCACCGCATGTAGAGGGACAGAGTTTCTGGAGAAGGTGAGCCTGTACTGGGCTTCAGGGCCAGACTCTGAGAGCCACAGGGGGAAGGATATTTTATGGAGTGGCATAGCATGTGCCAAGTCCCTGAGGTCTGCAAGGACAGTGGAAGTGCAAGGGGGTGAGCAGGAATGGGGTGGGAAAGTTGGTAGGGGCTTTGAGGACACCCAGCTAGGCGGCTCTGACTTTATCCCAAGGACAGTGGGGAGCCTCTGGAGGGTTTTAAACAGGAGAGGGGCATGACCAGATCTGCATTTTACAAAGATGACTGGCTGCAGTGAAGGGCAAGCCTCGGCCATGAGGTGGGGCAGCTTCACGGAGAAGGGAAGGGGCCAGATTCTGCCAGGAGTTGCTGTTGCCTGGCTTGTGACCTGGAGGGTCGCCTAGGCATCACGCCCCACCCCCCAGCACTGGCCGGGAACTGCTCCTCCATGGGTAGGAAATACATTGGGAGTAGAAGTGAGGGTGGTGGGGGCGGCTGCAGTTTCCAGGATTAGATGATAGGTGGGTGCGTGTGCCCCACCCCAAGTAAGTGGCTGTCTGCCACTCGCTGGGGGAAGTGGGGAGGTGGCATTTCTGGAGAAGGCTCCGTGGGCTATTCCCTGAGGCTCCTTCTCTCCGCAGGTGTGGCGGAGGCCACGTTCCGCGAGGGTCCCCCCGCCGCGTTCAGCGGGCACAACGCGTCGTCAGGGCGCTTGCTCGGCGGCCTGTCGCTGGCCTTTCGCACGCGCGACTCCGAGGCCTGGCTGCTGCGTGCCGCGGCGGGCGCCCTGGAAGGCGTGTGGCTGGCGGTGCGCAATGGCTCGCTGGCGGGGGGCGTGCGCGGAGGCCATGGCCTGCCCGGCGCTGTGCTGCCCATACCGGGGCCGCGCGTGGCCGATGGTGCCTGGCACCGCGTGCGTCTGGCCATGGAGCGCCCGGCGGCCACCACCTCGCGCTGGCTGCTGTGGCTGGATGGTGCCGCCACCCCGGTGGCGCTGCGCGGCCTGGCCAGTGACCTGGGCTTCCTGCAGGGCCCGGGTGCTGTGCGCATCCTGCTGGCTGAGAACTTCACCGGCTGCTTGGGCCGCGTGGCGCTGGGCGGCCTGCCCCTGCCCTTGGCGCGGCCCCGGCCCGGCGCGGCCCCGGCCCGGCGCGGCCCCTGGCGCCCGAGAGCACTTCGCGTCTTGGCCTGGGACGCCGGCCCCGATCCTCGGCTGCCGCGGCGCGCCCGTGTGTGCGCCCTCGCCCTGTCTGCACGACGGTGCCTGCCGTGACCTCTTCGACGCCTTTGCCTGCGCCTGCGGCCCGGGGTGGGAAGGCCCGCGCTGCGAAGCCCACGTCGACCCCTGTCACTCCGCCCCCTGCGCCCGTGGCCGCTGTCACACGCACCCCGACGGCCGCTTCGAGTGCCGCTGCCCGCCTGGCTTCGGGGGCCCGCGCTGCAGGTGGGATGGCTGGGCAGGGGGGTGGGCTGCGAATGCCCCCTGGGGCTATGGTGGGGCAGAGAAGTCTGCCAGGTCTGTGGATGAGTCGCTTCCCTTCCCTGGTCCTCATGTCCTTATCTGTGACATGAGGAGGACAGTTTAATTTGATAAATTTCCTGATAAAATACAGATCAAAACACAACCAGTTAGCCTGGAATTTCAGATAAACAGCGCTGTGGTCTGGGGCTGGGAGCCGCCTGCCGCTTACACGGAGGTTCATCCCTATTGGTGGCTGGTTGGGGTGGAGGGAGGGGGTCAGGCTTTGGCGCTTCCCTTATTCATCTGGCAGTGGCTCTCCCGGGAGCCCAGCGTGTGGAAGGGGATCTGGCTGTGGCCTGACCCCTCCCTCTCCCCTCAAGGAATGTCCAGGCGTTGTGTTTAGGAGCTGCTTTTGTTCAGAGTCCTTACACTTTGTTGTCCTGAGTCCTCTGAGACTCTGGAAAGCGAGTGCAACCCTGTGTCCCTTCCCTCCCATCAGGGACCTCAATCCCATGCCCAATAGAGGAAGGCCCTGAGTTCCATACATGAGAACACAAGCTCAGGTGGCCCACGGTCACAGCGCTGGGGAGGGCAGGTCCCAGGTGTCCTGCACCCACTCCAGCCTCTGCTCTCTCCCCAGGTTGCCTGTCCCATCCAAGGAGTGCAGCCTGAATGTCACCTGCCTCGATGGCAGCCCATGTGAGGGTGGCTCTCCCGCTGCCAACTGCAGCTGCCTGGAGGGTCTTGCTGGCCAGAGGTGGGTCTGGGGGCCTGGGAACTGTGAGGAGGTCCAATGAATGTGGAGGGCTGTTCCTCCAGCCAGGGTGGGGCGGGGGTCCTCGCCCACCTTCTCACCCCTCCCTGGTATCACAGTCACCATTGTCACTTGAGTTTCCTTCCATGACTCGCAAGACCATCCTCTGTGATACAGACTGCTGCTGGGCAGTGGTTGCCTGGTGGCAGTTCTGGAAACCCAGCCTCAGCCCGCCTGTGGGAGACCATAAAAGTGCAGATTCTGGGCCCTGCAGACAGTGGCGTCAGCGTCTGGGGCACCTGCCTTCACACAGGCTCCCGTCACCCTAATGGGATGAGAGTCCTTCTCAGTGACGGCTGCTCAGGTGGTCACCTGGCAGGGCCCAGCTGGGCAGGAGCAGCGCATGGGGACAGTGGATGGATAAGCTCTGATGCTTGCTGAAGTGGGGATGGGCAGCAGAGCAGCTGGGAGCACAAGAGGCAGCCATGGGGGAAGCCGCTTTCTCAGCCCCCCTCCCTCTCCAGGTGTCAGGTCCCCACTCTCCCCTGTGAAGCCAACCCCTGCTTGAATGGGGGCACCTGCCGGGCAGCTGGAGGGGTGTCTGAATGTATCTGCAATGCCAGATTCTCCGGCCAGTTCTGTGAAGTGGCGGTGAGTGTTGTCAGGGGTGAGGGGCCGTGGACGTGGCCTGCTGGGCCCTTGGCGAGATGCTGCTGGGGAGAGAGCGCAGCACCATGGGGCTGTTCCTGGGCCACTCTGTCATGGGGTGGGGCAGTGAGAGGAGCCTCAGGTCCCTTCCACACCCCCCACACAAGAGGTATTTCCACTGCAGGGAGAGCTTTGGGGGCTGTCACCGTCTATTGACAAGAGCACAAAGCTCCTAGCTGGGTCAGCGGCTTCCTCAGAGTGCCCAGGGCAGTGGCAGTGAGGACAGATGGTCTCTGCCA | pathogenic | 149,911 |
Is the chromosome 9, position 123373608 variant in CRB2 (crumbs cell polarity complex component 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['CRB2-related_disorder'] | CTCCGAGGACATGTGCAGTGTAAGTGTCTGGTGGCGGTGGTGGTGGTGGGGTGGGGAGTCCTTTTCCCAGGATCTGTCCTGTGTCACCGGGGCTTAGTGTGTCCTTTTGCTGATGAGGAAACTGAGGCTCAGGAGGTGAAGTGACCTGCCCAGGGTCCCACTACAGGAGGGTGGCAGGGCAGATTTACATCTGTCTCTTCAGCCCAGCTGCTCCTACCCTCTGGCGGTCCCCGTGTCTCCCCGAGCTAGTCCTGGTGTGAGAGAGACACCCTGACCGAGATAGAGAGCTGCCTGAGCCTTTCTGCAGGAGCTACTTGGGGAGCGGGACACGCTTTTGATCATGAACAGAATTCCACCAACCCTGGAGTTAGAACAGCTTGGGCATGAATTCTGGTTCCTCTCTTTACTGGCTGGGTGACTCAGGCAAGTGGCTTTGCATCACTGAGCCTCAGTTTTCTCATCTGTAAAATGGGGATCTTAGCGACTTCCTCTCCCCTCGTTTGTGAGGAGATACTGTGTCTGTAGTAGGTGCTCAGCGAAGAAGCACTGCAATGCCAGTTATGGTGGGTGATGCTCACTGCAGTCCTGAGCCAACCCCTGCCCTGCCTCTCCCACAGCCTGACCCCTGTTTCAATGGTGGGACTTGCCTCGTCACCTGGAATGACTTCCACTGTACCTGCCCTGCCAATTTCACGGGGCCTACGTGTGCCCAGCAGCTGTGGTGTCCCGGCCAGCCCTGTCTCCCACCTGCCACGTGTGAGGAGGTCCCTGATGGCTTTGTGTGTGAGTGTGTGTCCTGGGCAGCTCCCGTGCTGGGTGCTGGACACCTAAGCTGGTTAGATCCCATCTGCACTCTCAGGGCTTGTAGGATACTGGTGGACCAGGCATGCCAAGCCCTAGGGCAGTGTGGCGGGGCCACCGCATGTAGAGGGACAGAGTTTCTGGAGAAGGTGAGCCTGTACTGGGCTTCAGGGCCAGACTCTGAGAGCCACAGGGGGAAGGATATTTTATGGAGTGGCATAGCATGTGCCAAGTCCCTGAGGTCTGCAAGGACAGTGGAAGTGCAAGGGGGTGAGCAGGAATGGGGTGGGAAAGTTGGTAGGGGCTTTGAGGACACCCAGCTAGGCGGCTCTGACTTTATCCCAAGGACAGTGGGGAGCCTCTGGAGGGTTTTAAACAGGAGAGGGGCATGACCAGATCTGCATTTTACAAAGATGACTGGCTGCAGTGAAGGGCAAGCCTCGGCCATGAGGTGGGGCAGCTTCACGGAGAAGGGAAGGGGCCAGATTCTGCCAGGAGTTGCTGTTGCCTGGCTTGTGACCTGGAGGGTCGCCTAGGCATCACGCCCCACCCCCCAGCACTGGCCGGGAACTGCTCCTCCATGGGTAGGAAATACATTGGGAGTAGAAGTGAGGGTGGTGGGGGCGGCTGCAGTTTCCAGGATTAGATGATAGGTGGGTGCGTGTGCCCCACCCCAAGTAAGTGGCTGTCTGCCACTCGCTGGGGGAAGTGGGGAGGTGGCATTTCTGGAGAAGGCTCCGTGGGCTATTCCCTGAGGCTCCTTCTCTCCGCAGGTGTGGCGGAGGCCACGTTCCGCGAGGGTCCCCCCGCCGCGTTCAGCGGGCACAACGCGTCGTCAGGGCGCTTGCTCGGCGGCCTGTCGCTGGCCTTTCGCACGCGCGACTCCGAGGCCTGGCTGCTGCGTGCCGCGGCGGGCGCCCTGGAAGGCGTGTGGCTGGCGGTGCGCAATGGCTCGCTGGCGGGGGGCGTGCGCGGAGGCCATGGCCTGCCCGGCGCTGTGCTGCCCATACCGGGGCCGCGCGTGGCCGATGGTGCCTGGCACCGCGTGCGTCTGGCCATGGAGCGCCCGGCGGCCACCACCTCGCGCTGGCTGCTGTGGCTGGATGGTGCCGCCACCCCGGTGGCGCTGCGCGGCCTGGCCAGTGACCTGGGCTTCCTGCAGGGCCCGGGTGCTGTGCGCATCCTGCTGGCTGAGAACTTCACCGGCTGCTTGGGCCGCGTGGCGCTGGGCGGCCTGCCCCTGCCCTTGGCGCGGCCCCGGCCCGGCGCGGCCCCTGGCGCCCGAGAGCACTTCGCGTCTTGGCCTGGGACGCCGGCCCCGATCCTCGGCTGCCGCGGCGCGCCCGTGTGTGCGCCCTCGCCCTGTCTGCACGACGGTGCCTGCCGTGACCTCTTCGACGCCTTTGCCTGCGCCTGCGGCCCGGGGTGGGAAGGCCCGCGCTGCGAAGCCCACGTCGACCCCTGTCACTCCGCCCCCTGCGCCCGTGGCCGCTGTCACACGCACCCCGACGGCCGCTTCGAGTGCCGCTGCCCGCCTGGCTTCGGGGGCCCGCGCTGCAGGTGGGATGGCTGGGCAGGGGGGTGGGCTGCGAATGCCCCCTGGGGCTATGGTGGGGCAGAGAAGTCTGCCAGGTCTGTGGATGAGTCGCTTCCCTTCCCTGGTCCTCATGTCCTTATCTGTGACATGAGGAGGACAGTTTAATTTGATAAATTTCCTGATAAAATACAGATCAAAACACAACCAGTTAGCCTGGAATTTCAGATAAACAGCGCTGTGGTCTGGGGCTGGGAGCCGCCTGCCGCTTACACGGAGGTTCATCCCTATTGGTGGCTGGTTGGGGTGGAGGGAGGGGGTCAGGCTTTGGCGCTTCCCTTATTCATCTGGCAGTGGCTCTCCCGGGAGCCCAGCGTGTGGAAGGGGATCTGGCTGTGGCCTGACCCCTCCCTCTCCCCTCAAGGAATGTCCAGGCGTTGTGTTTAGGAGCTGCTTTTGTTCAGAGTCCTTACACTTTGTTGTCCTGAGTCCTCTGAGACTCTGGAAAGCGAGTGCAACCCTGTGTCCCTTCCCTCCCATCAGGGACCTCAATCCCATGCCCAATAGAGGAAGGCCCTGAGTTCCATACATGAGAACACAAGCTCAGGTGGCCCACGGTCACAGCGCTGGGGAGGGCAGGTCCCAGGTGTCCTGCACCCACTCCAGCCTCTGCTCTCTCCCCAGGTTGCCTGTCCCATCCAAGGAGTGCAGCCTGAATGTCACCTGCCTCGATGGCAGCCCATGTGAGGGTGGCTCTCCCGCTGCCAACTGCAGCTGCCTGGAGGGTCTTGCTGGCCAGAGGTGGGTCTGGGGGCCTGGGAACTGTGAGGAGGTCCAATGAATGTGGAGGGCTGTTCCTCCAGCCAGGGTGGGGCGGGGGTCCTCGCCCACCTTCTCACCCCTCCCTGGTATCACAGTCACCATTGTCACTTGAGTTTCCTTCCATGACTCGCAAGACCATCCTCTGTGATACAGACTGCTGCTGGGCAGTGGTTGCCTGGTGGCAGTTCTGGAAACCCAGCCTCAGCCCGCCTGTGGGAGACCATAAAAGTGCAGATTCTGGGCCCTGCAGACAGTGGCGTCAGCGTCTGGGGCACCTGCCTTCACACAGGCTCCCGTCACCCTAATGGGATGAGAGTCCTTCTCAGTGACGGCTGCTCAGGTGGTCACCTGGCAGGGCCCAGCTGGGCAGGAGCAGCGCATGGGGACAGTGGATGGATAAGCTCTGATGCTTGCTGAAGTGGGGATGGGCAGCAGAGCAGCTGGGAGCACAAGAGGCAGCCATGGGGGAAGCCGCTTTCTCAGCCCCCCTCCCTCTCCAGGTGTCAGGTCCCCACTCTCCCCTGTGAAGCCAACCCCTGCTTGAATGGGGGCACCTGCCGGGCAGCTGGAGGGGTGTCTGAATGTATCTGCAATGCCAGATTCTCCGGCCAGTTCTGTGAAGTGGCGGTGAGTGTTGTCAGGGGTGAGGGGCCGTGGACGTGGCCTGCTGGGCCCTTGGCGAGATGCTGCTGGGGAGAGAGCGCAGCACCATGGGGCTGTTCCTGGGCCACTCTGTCATGGGGTGGGGCAGTGAGAGGAGCCTCAGGTCCCTTCCACACCCCCCACACAAGAGGTATTTCCACTGCAGGGAGAGCTTTGGGGGCTGTCACCGTCTATTGACAAGAGCACAAAGCTCCTAGCTGGGTCAGCGGCTTCCTCAGAGTGCCCAGGGCAGTGGCAGTGAGGACAGATGGTCTCTGCCAATCCAACCAGGACTCA | CTCCGAGGACATGTGCAGTGTAAGTGTCTGGTGGCGGTGGTGGTGGTGGGGTGGGGAGTCCTTTTCCCAGGATCTGTCCTGTGTCACCGGGGCTTAGTGTGTCCTTTTGCTGATGAGGAAACTGAGGCTCAGGAGGTGAAGTGACCTGCCCAGGGTCCCACTACAGGAGGGTGGCAGGGCAGATTTACATCTGTCTCTTCAGCCCAGCTGCTCCTACCCTCTGGCGGTCCCCGTGTCTCCCCGAGCTAGTCCTGGTGTGAGAGAGACACCCTGACCGAGATAGAGAGCTGCCTGAGCCTTTCTGCAGGAGCTACTTGGGGAGCGGGACACGCTTTTGATCATGAACAGAATTCCACCAACCCTGGAGTTAGAACAGCTTGGGCATGAATTCTGGTTCCTCTCTTTACTGGCTGGGTGACTCAGGCAAGTGGCTTTGCATCACTGAGCCTCAGTTTTCTCATCTGTAAAATGGGGATCTTAGCGACTTCCTCTCCCCTCGTTTGTGAGGAGATACTGTGTCTGTAGTAGGTGCTCAGCGAAGAAGCACTGCAATGCCAGTTATGGTGGGTGATGCTCACTGCAGTCCTGAGCCAACCCCTGCCCTGCCTCTCCCACAGCCTGACCCCTGTTTCAATGGTGGGACTTGCCTCGTCACCTGGAATGACTTCCACTGTACCTGCCCTGCCAATTTCACGGGGCCTACGTGTGCCCAGCAGCTGTGGTGTCCCGGCCAGCCCTGTCTCCCACCTGCCACGTGTGAGGAGGTCCCTGATGGCTTTGTGTGTGAGTGTGTGTCCTGGGCAGCTCCCGTGCTGGGTGCTGGACACCTAAGCTGGTTAGATCCCATCTGCACTCTCAGGGCTTGTAGGATACTGGTGGACCAGGCATGCCAAGCCCTAGGGCAGTGTGGCGGGGCCACCGCATGTAGAGGGACAGAGTTTCTGGAGAAGGTGAGCCTGTACTGGGCTTCAGGGCCAGACTCTGAGAGCCACAGGGGGAAGGATATTTTATGGAGTGGCATAGCATGTGCCAAGTCCCTGAGGTCTGCAAGGACAGTGGAAGTGCAAGGGGGTGAGCAGGAATGGGGTGGGAAAGTTGGTAGGGGCTTTGAGGACACCCAGCTAGGCGGCTCTGACTTTATCCCAAGGACAGTGGGGAGCCTCTGGAGGGTTTTAAACAGGAGAGGGGCATGACCAGATCTGCATTTTACAAAGATGACTGGCTGCAGTGAAGGGCAAGCCTCGGCCATGAGGTGGGGCAGCTTCACGGAGAAGGGAAGGGGCCAGATTCTGCCAGGAGTTGCTGTTGCCTGGCTTGTGACCTGGAGGGTCGCCTAGGCATCACGCCCCACCCCCCAGCACTGGCCGGGAACTGCTCCTCCATGGGTAGGAAATACATTGGGAGTAGAAGTGAGGGTGGTGGGGGCGGCTGCAGTTTCCAGGATTAGATGATAGGTGGGTGCGTGTGCCCCACCCCAAGTAAGTGGCTGTCTGCCACTCGCTGGGGGAAGTGGGGAGGTGGCATTTCTGGAGAAGGCTCCGTGGGCTATTCCCTGAGGCTCCTTCTCTCCGCAGGTGTGGCGGAGGCCACGTTCCGCGAGGGTCCCCCCGCCGCGTTCAGCGGGCACAACGCGTCGTCAGGGCGCTTGCTCGGCGGCCTGTCGCTGGCCTTTCGCACGCGCGACTCCGAGGCCTGGCTGCTGCGTGCCGCGGCGGGCGCCCTGGAAGGCGTGTGGCTGGCGGTGCGCAATGGCTCGCTGGCGGGGGGCGTGCGCGGAGGCCATGGCCTGCCCGGCGCTGTGCTGCCCATACCGGGGCCGCGCGTGGCCGATGGTGCCTGGCACCGCGTGCGTCTGGCCATGGAGCGCCCGGCGGCCACCACCTCGCGCTGGCTGCTGTGGCTGGATGGTGCCGCCACCCCGGTGGCGCTGCGCGGCCTGGCCAGTGACCTGGGCTTCCTGCAGGGCCCGGGTGCTGTGCGCATCCTGCTGGCTGAGAACTTCACCGGCTGCTTGGGCCGCGTGGCGCTGGGCGGCCTGCCCCTGCCCTTGGCGCGGCCCCTGGCGCCCGAGAGCACTTCGCGTCTTGGCCTGGGACGCCGGCCCCGATCCTCGGCTGCCGCGGCGCGCCCGTGTGTGCGCCCTCGCCCTGTCTGCACGACGGTGCCTGCCGTGACCTCTTCGACGCCTTTGCCTGCGCCTGCGGCCCGGGGTGGGAAGGCCCGCGCTGCGAAGCCCACGTCGACCCCTGTCACTCCGCCCCCTGCGCCCGTGGCCGCTGTCACACGCACCCCGACGGCCGCTTCGAGTGCCGCTGCCCGCCTGGCTTCGGGGGCCCGCGCTGCAGGTGGGATGGCTGGGCAGGGGGGTGGGCTGCGAATGCCCCCTGGGGCTATGGTGGGGCAGAGAAGTCTGCCAGGTCTGTGGATGAGTCGCTTCCCTTCCCTGGTCCTCATGTCCTTATCTGTGACATGAGGAGGACAGTTTAATTTGATAAATTTCCTGATAAAATACAGATCAAAACACAACCAGTTAGCCTGGAATTTCAGATAAACAGCGCTGTGGTCTGGGGCTGGGAGCCGCCTGCCGCTTACACGGAGGTTCATCCCTATTGGTGGCTGGTTGGGGTGGAGGGAGGGGGTCAGGCTTTGGCGCTTCCCTTATTCATCTGGCAGTGGCTCTCCCGGGAGCCCAGCGTGTGGAAGGGGATCTGGCTGTGGCCTGACCCCTCCCTCTCCCCTCAAGGAATGTCCAGGCGTTGTGTTTAGGAGCTGCTTTTGTTCAGAGTCCTTACACTTTGTTGTCCTGAGTCCTCTGAGACTCTGGAAAGCGAGTGCAACCCTGTGTCCCTTCCCTCCCATCAGGGACCTCAATCCCATGCCCAATAGAGGAAGGCCCTGAGTTCCATACATGAGAACACAAGCTCAGGTGGCCCACGGTCACAGCGCTGGGGAGGGCAGGTCCCAGGTGTCCTGCACCCACTCCAGCCTCTGCTCTCTCCCCAGGTTGCCTGTCCCATCCAAGGAGTGCAGCCTGAATGTCACCTGCCTCGATGGCAGCCCATGTGAGGGTGGCTCTCCCGCTGCCAACTGCAGCTGCCTGGAGGGTCTTGCTGGCCAGAGGTGGGTCTGGGGGCCTGGGAACTGTGAGGAGGTCCAATGAATGTGGAGGGCTGTTCCTCCAGCCAGGGTGGGGCGGGGGTCCTCGCCCACCTTCTCACCCCTCCCTGGTATCACAGTCACCATTGTCACTTGAGTTTCCTTCCATGACTCGCAAGACCATCCTCTGTGATACAGACTGCTGCTGGGCAGTGGTTGCCTGGTGGCAGTTCTGGAAACCCAGCCTCAGCCCGCCTGTGGGAGACCATAAAAGTGCAGATTCTGGGCCCTGCAGACAGTGGCGTCAGCGTCTGGGGCACCTGCCTTCACACAGGCTCCCGTCACCCTAATGGGATGAGAGTCCTTCTCAGTGACGGCTGCTCAGGTGGTCACCTGGCAGGGCCCAGCTGGGCAGGAGCAGCGCATGGGGACAGTGGATGGATAAGCTCTGATGCTTGCTGAAGTGGGGATGGGCAGCAGAGCAGCTGGGAGCACAAGAGGCAGCCATGGGGGAAGCCGCTTTCTCAGCCCCCCTCCCTCTCCAGGTGTCAGGTCCCCACTCTCCCCTGTGAAGCCAACCCCTGCTTGAATGGGGGCACCTGCCGGGCAGCTGGAGGGGTGTCTGAATGTATCTGCAATGCCAGATTCTCCGGCCAGTTCTGTGAAGTGGCGGTGAGTGTTGTCAGGGGTGAGGGGCCGTGGACGTGGCCTGCTGGGCCCTTGGCGAGATGCTGCTGGGGAGAGAGCGCAGCACCATGGGGCTGTTCCTGGGCCACTCTGTCATGGGGTGGGGCAGTGAGAGGAGCCTCAGGTCCCTTCCACACCCCCCACACAAGAGGTATTTCCACTGCAGGGAGAGCTTTGGGGGCTGTCACCGTCTATTGACAAGAGCACAAAGCTCCTAGCTGGGTCAGCGGCTTCCTCAGAGTGCCCAGGGCAGTGGCAGTGAGGACAGATGGTCTCTGCCAATCCAACCAGGACTCANNNNNNNNNNNNNNNN | pathogenic | 149,912 |
Is the chromosome 9, position 124491109 variant in NR5A1 (nuclear receptor subfamily 5 group A member 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['46,XY_disorder_of_sex_development', '46,XY_sex_reversal_3', 'NR5A1-related_disorder', 'Oligosynaptic_infertility'] | ATCTTCCTTAAGTCCCAGAGAAGGAGAAGTCCTGGATTCACCCCCGGCAGCCGCCAGAGCTATGCACAGGGCTTTGGTGGGAAGAGGGGCTGGGGGCCAAGACAATGTCCCTGCCCTTCAGGGGACACCCAAGGACAGACAGAGCCCTGGCAAAGGAGCCTGCTGGCTGATAGCCCACCCTCCACCTACCCCTCCTTAAGGCCCTCCCAGTGGCCTTGTGATGGCAGCCAGGTCAAGAACTCTCACCTTACAAACCACCCGGACTCCCGCGGACACACACTCCAATTCTAGGTGCCTCCAAGCACCACCCTTCCCCACAAATTACTCATGTTCCCAGATCTCCCGGTCCATCCCCAGTCACACACAAACTCTTCACACAGGCTAACACTTCAGAAACCACAAGCGTATGAAAGTTCATCGTTTGCACATGCCAGCACGCACGCATGCAGAGACAGACGTTCACGTAATTCCTGCAGGCTCCACGCCCCAACCACACAGACCCCCACCACGCACATCTGTGACTCTATCCTGTGCCAGTCTGCTGAGCCTGGCAGGCTGCGGGGAAGGTGCCGTTGCGGGCAGAGGTAGGAGGGAGCTTCCCCAGCTGCAGCCAACCGAGCCTGGGTCCCTGAGGCTCCTGTAAGGATTTCAGGCCACAGCTCCTAACTGGCTGCCCAAGATCCTACCCGCCCCCCACCCCAATGGCTGTCCCCTGCTGACCCCTGCAGAGCCCCGGCTGGTGTCCTGAGAGGTGGCTTAAGGTGGCCTTGCAGATAAGCCCTCCAGTTACCAGCCTGTTCTGCCAGAATCGGGAGACCCAGCCCACTGCACCCAGCCACATGGCATGGAGGATGTCACCAATCCCACCCAAGCACTGGGCTTCCCACTTTTCGTTAATCCCCTCTGCCTCCACAACACTCCCCACTCCCCACTCCTCCCTCTCTCTGGCAGGCATGCCCCTCGCAGACTGTGACTATAATGCCAGCCACCAAGACAATACCTTAATCCTGCCCCCTCTCCAGGTGATGAAGCACTCACTCATCTCTATCCCATCCCACCTGCATCACTGCAAAATAATTCATTCCCCCAGAAAACTCCTACTCATCCTCCAAAACCCTGCTCAGATGCCCCTCTTCCAGGAAGCCTTCCAGAAAGAGCTCTGCTCCCCACCCAGGGTTCCCTAAGCCACACCCATCTCTCTGTCTCAGCCCTAACCACCCAGGCTGTAGGTCTTTTCACGATTGGCAAGGGACAGCTATGTCCTCAGCATCTCTGGGCATGGGGAGGGCATTTGTGATGGCTTTCCAGGGAGTGAGGGTGCAGACTGGAGTGGCCCAGGCAGGGTTGGGGTCAGGAGGGCAACGGGAAGGAGACCCCCCAAGTGCTTGGGGAGTGAGGTGGGTGGCCGGGCTGGGCTGGGCCAGGCCTGCTCTCTGCCTCTCCTCTGCTTTCTTTTCCTCCTTAGCACTGGTCACAACCTTCCTGGCTATGCCTGCCTAATCGTGTTAGGAACCTACGTCTTACTAATCATATTATGCTCATGATCTGTCTCCCCTAGAGAAGGTCAGTACCACAAGGGCTGGGCTTGGGGGGTTTTTGCTCACAGCGGTATTCCCAGTGCCTTCTCCAGTGCAATTTCTCGGTGCCTGTTTGTAGAGTCAATGAATGGATGCACGTGTGCATGAGCAAAGGGGTCCAGGCCCCCAGGAGGTACAGTCAAAATTGGGGCCCCCTAGATCCAGGGATTAGAGAAAACAGGGACCCCAGGATGGGAGCCTGGAATAAAAATCCTAAAGTCACATGGGCCACCAGAGCGGGAGCAGCCCCCATTTAAGAGCCAGGCCCTGGCCGGGGGCCCTCAGACCTTTGTTCACTGAATGAGTAAGGGAGGGGTCCTTTCTCCCCGAGGCTCCTTCGTGGCCACTCTGGCCACAGCAGGGCTACCTCTCCAGCCTCACCCACCCTCCCACCCACCCGCCTCTGGCTGTCTCCACCTCTCTGTCACTGGAGCTGCACTCACCCAGGCTGAAGAGGATGATGAACTTGAGGCAGACAAACTCCTGCCGGTCCAGCTGCAGCGCAAGCAGCTGCAGCACCAGCTCCTGCGCCCGCAACACCAGGCTGTGCAGCAGCGAGCCCGCCTGGGTGGCCACTGTGGTCAGCTCCACCTGGGGGCAGAGGGCACGGGGCGGGGGACAGTCAGAGGACGTGGGTCCGGGCAGGTGGCTCTCTGATGGGGGATGCAGGGCTGAGGGCATGGATTGGAGGTGCAGGTCAGATGGGCTGGCGTCAGGAGGGCCCAGCCTTGGTGCCGAGCCAGGCACGGGTAACATCTGCACAGCCCCGGGGACGCTGCCGGGCCCACCCTTCCGAGCTCTCCTCAACCCGCCAAGCCCGGAGCTGAGGCACCCACGTTCTGCCCGCGTCCACCCCTCCTTCACACACAAACCCCAGCACCAGGCCCAGCAGCACCAGCAGCTCAGGGGGCCCCTCTACATGCTGGGAGGGGAGGGGTTGGGGAGGGCAGGCCTGTGTGGGGACACACAGACACATCCACATGGCTTCCCAGAGCCCCCATGTTCACACCTACACGCTGGGTCACAGCTCAGCTCAGAGTCACACACACACACACACGAGCACAGTCATGGGGTCGCCCACTCTGTGAAGTGAAGGCACACACGTGTGCACACGGCCACACCCGCCCTTGTACGCTCACACTCACGGCAACACATACACCCATGTATGTGATCACATTTACGGGTTGATGGGAAGACAGTGACACCCACACACTGATGTGTGTGGAGATTTTGCACAATAAAACACAGGCAGGCACACACACACACACACACAAACAGGCATTCCCATGGCCACAGAGACTCAGCCAGCCTGCGGACACCCACACTTCATGCAGACTGCAGGCACCTGCGCTCACAGGGAGCCCCAAAGACACCCCCCTGGGACCAGTGCTGCCCGTCCCGTCCTCCTGCCCCGATGGCCTGTGACACCGAGGAGAGAGCTGGAGATGAGCAGTGGGGGCCTGGGAGGGCTGGAGCTGGGAGCAGAGTCTGTCTTCCCCACCCCACAGCACCCACCGACCCCACGGCCCTTCCTGTGTCCCCACCTGAGAGTGGCACTCCTGCCAGCAGGCTGGACCCTGGCCATCAACCCCCTTCTCTGCCTCCCCCCCTCCCTCTCTTTCCCTACAGCCCATCTCTCCAGGTGAGTCTTCCTCCGTGGCTGTGCCCCCGTGTCCCCACCCTGGCCCCCCACCTCCCATCCTGACCCCTCCGCCTGCCTCCTCAGATACCACCTGGCCATGTCCCTCCTCCTCCTAAAGCTCTCCCCGGACCCCTGCTGCATCTGGACTTTCTACTCCCCAGATCCTCATTCCCTGCTCTAAGGGGGCCCAAATTCCGACTCTGAGCTCTCTGGAGCCCTTTGCCCATTCATTCATTCATTCATTCATTCGAGATTTAGGGCCTGCAAGGTTTGCCTGCTAAGCCAGCACTAGCAACCCCCTAGCCTCCCTCATCTCTCACCTCATGCCACCCCCACACCGGCACCAGCAGGGCCCGGGGGCTCCACACTTCCACCCTCTCTGAGCCTGCGGTAGACGTGGGGACTGCCCCCCTCATCCCTCATTCCCCAGCCAACTCCAGTGTGTTATTTCCAGACCCAGGGCCACCATCACCTCCTCCTCCATGAGCCTCTCCTCACCATGCCCACACCCCCTGAGCTGCTCCCCAAGAGCAGGGCTCCCAGGGGCCGGCGCCTCTCAAGCCTGGGCCAGGGCTGCTCACAGAGGGTTTGGGCCAGTGGGTGTTCCATGAACGTGGGGAAAGGGCTGATAATTAGGGTGCCCAGAGCCAGCCCCGAGAGGCCTGGGTCCTCCTCTCCGGGGCCCTGAATCCTGGAAGTGCACAGCGGGGCCAGGGCGGGGCCCAGGGGCGGGGCCGAGGGACTGGTCACCTCCTGCCCGGTGACCAGCAGGATGCTGCCCTCCTTGCCGTGCTGGACCTGGCGGTAGATGTGGTCGAACACCAGCAGCTCGCTCCAGCAGTTCTGCAGCAGCGTCATCTGGTCGGCCACCTGGAAG | ATCTTCCTTAAGTCCCAGAGAAGGAGAAGTCCTGGATTCACCCCCGGCAGCCGCCAGAGCTATGCACAGGGCTTTGGTGGGAAGAGGGGCTGGGGGCCAAGACAATGTCCCTGCCCTTCAGGGGACACCCAAGGACAGACAGAGCCCTGGCAAAGGAGCCTGCTGGCTGATAGCCCACCCTCCACCTACCCCTCCTTAAGGCCCTCCCAGTGGCCTTGTGATGGCAGCCAGGTCAAGAACTCTCACCTTACAAACCACCCGGACTCCCGCGGACACACACTCCAATTCTAGGTGCCTCCAAGCACCACCCTTCCCCACAAATTACTCATGTTCCCAGATCTCCCGGTCCATCCCCAGTCACACACAAACTCTTCACACAGGCTAACACTTCAGAAACCACAAGCGTATGAAAGTTCATCGTTTGCACATGCCAGCACGCACGCATGCAGAGACAGACGTTCACGTAATTCCTGCAGGCTCCACGCCCCAACCACACAGACCCCCACCACGCACATCTGTGACTCTATCCTGTGCCAGTCTGCTGAGCCTGGCAGGCTGCGGGGAAGGTGCCGTTGCGGGCAGAGGTAGGAGGGAGCTTCCCCAGCTGCAGCCAACCGAGCCTGGGTCCCTGAGGCTCCTGTAAGGATTTCAGGCCACAGCTCCTAACTGGCTGCCCAAGATCCTACCCGCCCCCCACCCCAATGGCTGTCCCCTGCTGACCCCTGCAGAGCCCCGGCTGGTGTCCTGAGAGGTGGCTTAAGGTGGCCTTGCAGATAAGCCCTCCAGTTACCAGCCTGTTCTGCCAGAATCGGGAGACCCAGCCCACTGCACCCAGCCACATGGCATGGAGGATGTCACCAATCCCACCCAAGCACTGGGCTTCCCACTTTTCGTTAATCCCCTCTGCCTCCACAACACTCCCCACTCCCCACTCCTCCCTCTCTCTGGCAGGCATGCCCCTCGCAGACTGTGACTATAATGCCAGCCACCAAGACAATACCTTAATCCTGCCCCCTCTCCAGGTGATGAAGCACTCACTCATCTCTATCCCATCCCACCTGCATCACTGCAAAATAATTCATTCCCCCAGAAAACTCCTACTCATCCTCCAAAACCCTGCTCAGATGCCCCTCTTCCAGGAAGCCTTCCAGAAAGAGCTCTGCTCCCCACCCAGGGTTCCCTAAGCCACACCCATCTCTCTGTCTCAGCCCTAACCACCCAGGCTGTAGGTCTTTTCACGATTGGCAAGGGACAGCTATGTCCTCAGCATCTCTGGGCATGGGGAGGGCATTTGTGATGGCTTTCCAGGGAGTGAGGGTGCAGACTGGAGTGGCCCAGGCAGGGTTGGGGTCAGGAGGGCAACGGGAAGGAGACCCCCCAAGTGCTTGGGGAGTGAGGTGGGTGGCCGGGCTGGGCTGGGCCAGGCCTGCTCTCTGCCTCTCCTCTGCTTTCTTTTCCTCCTTAGCACTGGTCACAACCTTCCTGGCTATGCCTGCCTAATCGTGTTAGGAACCTACGTCTTACTAATCATATTATGCTCATGATCTGTCTCCCCTAGAGAAGGTCAGTACCACAAGGGCTGGGCTTGGGGGGTTTTTGCTCACAGCGGTATTCCCAGTGCCTTCTCCAGTGCAATTTCTCGGTGCCTGTTTGTAGAGTCAATGAATGGATGCACGTGTGCATGAGCAAAGGGGTCCAGGCCCCCAGGAGGTACAGTCAAAATTGGGGCCCCCTAGATCCAGGGATTAGAGAAAACAGGGACCCCAGGATGGGAGCCTGGAATAAAAATCCTAAAGTCACATGGGCCACCAGAGCGGGAGCAGCCCCCATTTAAGAGCCAGGCCCTGGCCGGGGGCCCTCAGACCTTTGTTCACTGAATGAGTAAGGGAGGGGTCCTTTCTCCCCGAGGCTCCTTCGTGGCCACTCTGGCCACAGCAGGGCTACCTCTCCAGCCTCACCCACCCTCCCACCCACCCGCCTCTGGCTGTCTCCACCTCTCTGTCACTGGAGCTGCACTCACCCAGGCTGAAGAGGATGATGAACTTGAGGCAAACTCCTGCCGGTCCAGCTGCAGCGCAAGCAGCTGCAGCACCAGCTCCTGCGCCCGCAACACCAGGCTGTGCAGCAGCGAGCCCGCCTGGGTGGCCACTGTGGTCAGCTCCACCTGGGGGCAGAGGGCACGGGGCGGGGGACAGTCAGAGGACGTGGGTCCGGGCAGGTGGCTCTCTGATGGGGGATGCAGGGCTGAGGGCATGGATTGGAGGTGCAGGTCAGATGGGCTGGCGTCAGGAGGGCCCAGCCTTGGTGCCGAGCCAGGCACGGGTAACATCTGCACAGCCCCGGGGACGCTGCCGGGCCCACCCTTCCGAGCTCTCCTCAACCCGCCAAGCCCGGAGCTGAGGCACCCACGTTCTGCCCGCGTCCACCCCTCCTTCACACACAAACCCCAGCACCAGGCCCAGCAGCACCAGCAGCTCAGGGGGCCCCTCTACATGCTGGGAGGGGAGGGGTTGGGGAGGGCAGGCCTGTGTGGGGACACACAGACACATCCACATGGCTTCCCAGAGCCCCCATGTTCACACCTACACGCTGGGTCACAGCTCAGCTCAGAGTCACACACACACACACACGAGCACAGTCATGGGGTCGCCCACTCTGTGAAGTGAAGGCACACACGTGTGCACACGGCCACACCCGCCCTTGTACGCTCACACTCACGGCAACACATACACCCATGTATGTGATCACATTTACGGGTTGATGGGAAGACAGTGACACCCACACACTGATGTGTGTGGAGATTTTGCACAATAAAACACAGGCAGGCACACACACACACACACACAAACAGGCATTCCCATGGCCACAGAGACTCAGCCAGCCTGCGGACACCCACACTTCATGCAGACTGCAGGCACCTGCGCTCACAGGGAGCCCCAAAGACACCCCCCTGGGACCAGTGCTGCCCGTCCCGTCCTCCTGCCCCGATGGCCTGTGACACCGAGGAGAGAGCTGGAGATGAGCAGTGGGGGCCTGGGAGGGCTGGAGCTGGGAGCAGAGTCTGTCTTCCCCACCCCACAGCACCCACCGACCCCACGGCCCTTCCTGTGTCCCCACCTGAGAGTGGCACTCCTGCCAGCAGGCTGGACCCTGGCCATCAACCCCCTTCTCTGCCTCCCCCCCTCCCTCTCTTTCCCTACAGCCCATCTCTCCAGGTGAGTCTTCCTCCGTGGCTGTGCCCCCGTGTCCCCACCCTGGCCCCCCACCTCCCATCCTGACCCCTCCGCCTGCCTCCTCAGATACCACCTGGCCATGTCCCTCCTCCTCCTAAAGCTCTCCCCGGACCCCTGCTGCATCTGGACTTTCTACTCCCCAGATCCTCATTCCCTGCTCTAAGGGGGCCCAAATTCCGACTCTGAGCTCTCTGGAGCCCTTTGCCCATTCATTCATTCATTCATTCATTCGAGATTTAGGGCCTGCAAGGTTTGCCTGCTAAGCCAGCACTAGCAACCCCCTAGCCTCCCTCATCTCTCACCTCATGCCACCCCCACACCGGCACCAGCAGGGCCCGGGGGCTCCACACTTCCACCCTCTCTGAGCCTGCGGTAGACGTGGGGACTGCCCCCCTCATCCCTCATTCCCCAGCCAACTCCAGTGTGTTATTTCCAGACCCAGGGCCACCATCACCTCCTCCTCCATGAGCCTCTCCTCACCATGCCCACACCCCCTGAGCTGCTCCCCAAGAGCAGGGCTCCCAGGGGCCGGCGCCTCTCAAGCCTGGGCCAGGGCTGCTCACAGAGGGTTTGGGCCAGTGGGTGTTCCATGAACGTGGGGAAAGGGCTGATAATTAGGGTGCCCAGAGCCAGCCCCGAGAGGCCTGGGTCCTCCTCTCCGGGGCCCTGAATCCTGGAAGTGCACAGCGGGGCCAGGGCGGGGCCCAGGGGCGGGGCCGAGGGACTGGTCACCTCCTGCCCGGTGACCAGCAGGATGCTGCCCTCCTTGCCGTGCTGGACCTGGCGGTAGATGTGGTCGAACACCAGCAGCTCGCTCCAGCAGTTCTGCAGCAGCGTCATCTGGTCGGCCACCTGGAAGNNNN | pathogenic | 149,934 |
Does the genetic variant at chromosome 9, position 124500561, impacting gene NR5A1 (nuclear receptor subfamily 5 group A member 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['46,XY_disorder_of_sex_development', 'Oligosynaptic_infertility'] | CCCTCAATCCAGGGTTCTGGAAGGCCGGGAATGCCCTGCTCCTCCTCCCCTCTGCACGGGGGGTGCATGGGAAGTCTGGAGGGAAGCTAGCAACCAACCCAAGATGCTTGGGGTCCTCATCCCCACCAGGGCCTCCAGCCATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCATCAATCCTCGACTCCCAGATGGCCCAGGCCCCAGTCCCGCGATGCCCCTAGGGCTCGGAGCACCCACCCCCACCTACCAGCCAGGGCAGGCAGTGCCCCCAGCCCATCCGGCCTCATGCCCCTGGAGGAAGCCCAGGCCCGAGTGGCGTCAGCATTGACAATGCTGCTCAAGGCTGCAGTGGCCCCAGCAGTGGGGGCAACGGGCCCTGCTGTTTACACCCAGCCCCAGAACAGCCAGGGGGTCAGCCTGGGAAAGCTAAACACCAATAGCCCTGGGTGAAAGAGTGCCTGAACCCAGGCCAGGGAGGGGCAGGCCTTGGTCAGCTGGAGGGGCCTCTAGGGAGGTCTCAGAGAGCCAGGGCACTGGAGGGGCAGTTCTGGGGCCTCAGGCTCTTCAAGCCACTAGGTGGGAAGACTGGGAAGTTCTTTCCTATGTCTAGCCTCAGTTTCTCCTGCTGCTTTCCTGATTACTGTAGCATCAGGTACCTCGACCCAGGGGGAAAGAAGGCCATGCCATAGAGGAAGGCTGCCTCGCCAGGGAAGATCAGTGGCAGACCCTGGAATCCCCCACCCACCTACCTATCTAGCTTCCTGAACACCCACACACATGCACATGACCATCCAGCATACGCAAGATTTGCAGAGGCAGGAGGATCTTTCACCTTAGCTGGGAAGGAGAATGGCCCACAAATGCCCCAAACTCTAAAACACTAAGAGCCCCCATCTGTGTGTGACACTGCCAATCCTTGCCAGCCTCCCTGAATGGGAGGACAGGATGGGCCGGACCCCCTTCCCAACACTAGGCTGAAGCCTGGGGAGGCAAGACAGTCTCCCAAGGACTCAGCTAGTCCTTTGAGGGAGCCCAGGGTCTCAGAGAATGAGGGAAATGAGTACTGAGAGAGCCCCAGAATAGGGAACCCCAGAGGCTGAAGGGGTTGCAGAGACACCAAGAAGCAGAGAGACAACATGCAAGGGAGAGACACAGTAGGAAGAGACAGAGGCAGAGATCAAAGCAGCAGTGGCTCCTTGAGCAGAGGCTCAAGGAGGAGAGAAGGAGAGGGAGGGAGCGGGGACCCAGGAGGCTGTGATAAGTGGAAATGCTCCTTAATGTCCCCAGGGTGGCCTCCGGGTCCCCAGGTACTGCCTGAAGCCAGTGGGAAGGATGGCCCTATCCAAAGGACAGTCGGGCTAAGGCTTGGGCAGCCGGGAGGACCATGATGCAGGGCCAGCCGGGCGGGAGGAGAGACTCACCTCCAGCTCCTTGAAGACCATGCACCTGCGTGCCCAGTCCACGATGGAGATGAAGGTCTGGTCGGCCATTCTGCACAGGAGGCCGAAGGCCGCCGGCTGGTCGGGGCGGCTTTTGGTGGGCTCCTGCAGGCAGCCCAAGATGCGGGCCCGCACCTGGTCCTCATCCGGCTCCAGCTGCAGCAGCTGCAGGATGAGCTCAGGCACGTTGGGCCCTCCAGAGAAGGGCTCTGGGTAGCCGTACGGCAGCCCAGGCTGTGGGGGGCTGGCATAAGGCTCCGGGTACTCAGACTTGATGGCACGGCCAGGAAAGGCAGGGTAGAGGTAGCCAGCCAGTGGCCCGTGGGCACCGGGCACGGCCATGGGCAGTGCTGGGGCCCCAAAGTCGCCCAGTGGCCCAGCAGGTGGACCGGCGGCCAGGCCCTTGGGCTCAGGCCCATGCAGGCTGGGAGGCAGCACGTAGTCCGGTGCGGGAGGGGGCGGCGGGGGCACCCCCATCGGGGGCCCTGTCTCCAGCTTGAAGCCATTGGCCCGAATCTGTGCCTTCTTCTGCTGTTTCAGGGCCCGGTCCCGCTTGTACATCGGCCCAAACTTGTTCCGGCCACCCCTCATACGGTCAGCGCGCACGGCTGTGGGCAGGGGCAGAGGGTCAGACTCACCCTCTCTAAGCCCCCTTCCATGCTGCCCCACCACAGATCCTTTCCAAACAAATCTGACCGCTCTCTCCCCTGCTCAACACCCTTTCATGGCTCCCACTGACCACAGGGGAAGTCAGTCTCCTTTGCCTGGCATTCAAGGCCCTGCTCAGCTTTTCAGGCAATCCCTGCTAAGACCCCTCTCCTTCCACTCCACCGAACTCACCTCCACTCCTCTGTTTGACACATCTCCTTCCTCCTCCACCCTGCCTTTCATTTTCCTTCTGACTCAAACTTTTTTTTTTCTCTTGTGCTTGCTGAACACCCAGCCTCAATGTCACTACTTCCAGGAAGCACTCCTGGATTCATGCAAACGGGCTCTACTGTCCTTGCCCCAGGTGCCCTGTCCTTGCCCACTCTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCA | CCCTCAATCCAGGGTTCTGGAAGGCCGGGAATGCCCTGCTCCTCCTCCCCTCTGCACGGGGGGTGCATGGGAAGTCTGGAGGGAAGCTAGCAACCAACCCAAGATGCTTGGGGTCCTCATCCCCACCAGGGCCTCCAGCCATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCATCAATCCTCGACTCCCAGATGGCCCAGGCCCCAGTCCCGCGATGCCCCTAGGGCTCGGAGCACCCACCCCCACCTACCAGCCAGGGCAGGCAGTGCCCCCAGCCCATCCGGCCTCATGCCCCTGGAGGAAGCCCAGGCCCGAGTGGCGTCAGCATTGACAATGCTGCTCAAGGCTGCAGTGGCCCCAGCAGTGGGGGCAACGGGCCCTGCTGTTTACACCCAGCCCCAGAACAGCCAGGGGGTCAGCCTGGGAAAGCTAAACACCAATAGCCCTGGGTGAAAGAGTGCCTGAACCCAGGCCAGGGAGGGGCAGGCCTTGGTCAGCTGGAGGGGCCTCTAGGGAGGTCTCAGAGAGCCAGGGCACTGGAGGGGCAGTTCTGGGGCCTCAGGCTCTTCAAGCCACTAGGTGGGAAGACTGGGAAGTTCTTTCCTATGTCTAGCCTCAGTTTCTCCTGCTGCTTTCCTGATTACTGTAGCATCAGGTACCTCGACCCAGGGGGAAAGAAGGCCATGCCATAGAGGAAGGCTGCCTCGCCAGGGAAGATCAGTGGCAGACCCTGGAATCCCCCACCCACCTACCTATCTAGCTTCCTGAACACCCACACACATGCACATGACCATCCAGCATACGCAAGATTTGCAGAGGCAGGAGGATCTTTCACCTTAGCTGGGAAGGAGAATGGCCCACAAATGCCCCAAACTCTAAAACACTAAGAGCCCCCATCTGTGTGTGACACTGCCAATCCTTGCCAGCCTCCCTGAATGGGAGGACAGGATGGGCCGGACCCCCTTCCCAACACTAGGCTGAAGCCTGGGGAGGCAAGACAGTCTCCCAAGGACTCAGCTAGTCCTTTGAGGGAGCCCAGGGTCTCAGAGAATGAGGGAAATGAGTACTGAGAGAGCCCCAGAATAGGGAACCCCAGAGGCTGAAGGGGTTGCAGAGACACCAAGAAGCAGAGAGACAACATGCAAGGGAGAGACACAGTAGGAAGAGACAGAGGCAGAGATCAAAGCAGCAGTGGCTCCTTGAGCAGAGGCTCAAGGAGGAGAGAAGGAGAGGGAGGGAGCGGGGACCCAGGAGGCTGTGATAAGTGGAAATGCTCCTTAATGTCCCCAGGGTGGCCTCCGGGTCCCCAGGTACTGCCTGAAGCCAGTGGGAAGGATGGCCCTATCCAAAGGACAGTCGGGCTAAGGCTTGGGCAGCCGGGAGGACCATGATGCAGGGCCAGCCGGGCGGGAGGAGAGACTCACCTCCAGCTCCTTGAAGACCATGCACCTGCGTGCCCAGTCCACGATGGAGATGAAGGTCTGGTCGGCCATTCTGCACAGGAGGCCGAAGGCCGCCGGCTGGTCGGGGCGGCTTTTGGTGGGCTCCTGCAGGCAGCCCAAGATGCGGGCCCGCACCTGGTCCTCATCCGGCTCCAGCTGCAGCAGCTGCAGGATGAGCTCAGGCACGTTGGGCCCTCCAGAGAAGGGCTCTGGGTAGCCGTACGGCAGCCCAGGCTGTGGGGGGCTGGCATAAGGCTCCGGGTACTCAGACTTGATGGCACGGCCAGGAAAGGCAGGGTAGAGGTAGCCAGCCAGTGGCCCGTGGGCACCGGGCACGGCCATGGGCAGTGCTGGGGCCCCAAAGTCGCCCAGTGGCCCAGCAGGTGGACCGGCGGCCAGGCCCTTGGGCTCAGGCCCATGCAGGCTGGGAGGCAGCACGTAGTCCGGTGCGGGAGGGGCGGCGGGGGCACCCCCATCGGGGGCCCTGTCTCCAGCTTGAAGCCATTGGCCCGAATCTGTGCCTTCTTCTGCTGTTTCAGGGCCCGGTCCCGCTTGTACATCGGCCCAAACTTGTTCCGGCCACCCCTCATACGGTCAGCGCGCACGGCTGTGGGCAGGGGCAGAGGGTCAGACTCACCCTCTCTAAGCCCCCTTCCATGCTGCCCCACCACAGATCCTTTCCAAACAAATCTGACCGCTCTCTCCCCTGCTCAACACCCTTTCATGGCTCCCACTGACCACAGGGGAAGTCAGTCTCCTTTGCCTGGCATTCAAGGCCCTGCTCAGCTTTTCAGGCAATCCCTGCTAAGACCCCTCTCCTTCCACTCCACCGAACTCACCTCCACTCCTCTGTTTGACACATCTCCTTCCTCCTCCACCCTGCCTTTCATTTTCCTTCTGACTCAAACTTTTTTTTTTCTCTTGTGCTTGCTGAACACCCAGCCTCAATGTCACTACTTCCAGGAAGCACTCCTGGATTCATGCAAACGGGCTCTACTGTCCTTGCCCCAGGTGCCCTGTCCTTGCCCACTCTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCAN | pathogenic | 149,953 |
Is the genetic variant on chromosome 9, position 124503188, gene NR5A1 (nuclear receptor subfamily 5 group A member 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['46,XY_disorder_of_sex_development', 'Oligosynaptic_infertility'] | CTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGCTGGCTGGGGTTGGGTATTTTGGGGGCATGGGGACCTCCTCACAGAGGGAGGAGCTCTGCCGACCCTGTGCTGGGGCCCTGGCAGGGGCTGGGGAAAGAGTCATCTCCATAGGGTTCACTTTTGGATACTTCTCAGCCCAACCCAGGCTGGCCTTGCCAGCGTCCCTTCCCCGCCCGAGGCCCACCCAGCGCCAGCGCCCGGTTCTCTTGCAGCGACTGGGCCCTAATGTCGCACGAGGGGCCTTCGCGAAGGCCAATGGTACTATCCCCTCAGCCCCTCTCCCACCCCCACCCCCTACCCCCTCAGGCTGTGGGGGGTCAGGGGTCGAGGCCCGCGCGGCGCGCACCTTCCAGGCGCATCCCCACCGTCAGGCATTTCTGGAAGCGGCAGAAGGGACAGCGCTTGCGCTGCGTCTTGTCGATCTTGCAGCTCTGGCTCTCGGTGCACGTGTAGTGCTTGTTGTTCTGCACCGTGCGCTTGAAGAAGCCCTGCGGGAGCTGAGAGTCAGCGAGGCCCCGCAGCGCCCGTCTGCCGCACCCCTGCCGCGCGCTCGCCGCTCACCTTGCAGCTCTCACACGTGAGCAGTCCGTAGTGGTAGCCGGACACCTTGTCCCCGCACACGGGGCACAGCTCGTCCAGGTCCTCGTCGTACGAATAGTCCATGCCCGCGGCGTCCGCCTGCGGAGGGACAGCGGGTCAGGGAGGGCCGGCGGAGACCGGCAGCCTGGGGTCCCCGCGGCCGCCGCCCCAGCCGCTGTCGCCGGCCCGTCGCGTAATCCCCTCTCTGTGCCCAGGCGCTGCCGCCGGCACCCACCGAGCGCCCCGCGCAGCGTCCCGGGGTGGGTCCGGTGCAGTCCCCGCGCCCGGCCTTCCCCTGCCAGGCCCCACGCTCCCGCCCCGTCCGGGGGGCTCCTCCCGCGCGGACCCCGTCGCGCCCGATCTGGGGCCCTCGGGTTCGATGCGCTTCGATTGGGATTCGTTTGTCTGAGAACAAAACCCCGATTCTGAGAAAAAGAGATGGGCTCAGCCGCGGGGAAGACGCCAGGGGACCCAGGAGCGCTGGGGCGCCCGGCCCGGGTGTTCTGGGAACCCGACAGAGACGAAGGAGGCAGAGACAGAGTCCGGGGGAGCCAGAGATGGGAAGAAACTCTGGCGAGAGACAACGACCGACGCCACCGGGCGCAGACACGAGGCCAGTCCGAGAGTGCCAGAGACACAGACACTGAGACGCCCAGCTAGAGAGAACCCGGCGGGGACGAGACACAGGGAGGGATGGAGAGAGACAGGGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGACGAGAGAGAGAGAGAGAGAGAGAAACGAGGGGTGGGGGATTGGATCAGAGACTCGGAGAGACAGCGGAGGCCCGAAGAGAAAACCCAAGAGAGACTGACGCAGAGCCAGAGACACAACGATAGACGACAGACAGAGACGCCGAGACGAGAGGAGCCCCGGAGAGACGAGGCCGGGGAGCTACAGAAACACGGAGAGAAAACCTGGAGGCGGAAGCGCCCAGCCCGAGGGTCGGGGACAGGGGACGCGCGGAAACCTGCCGGGCAGGAGCCCAAGCGCCAAGGCGAGGCCCCGCAGGGTCGGACCCAGACGGGGGCCCGGGCCGCAGGAGGCGGAAAACGACGGCGCCGGGACCGAGAGCCCGAAAACGCAGAGCCGCCGGGACCCCCTCCCCGGGGGAGACAAAGCCGCAGCAGCGACGGCAACGGGAGGCGCAGCCCGAGCCGCCGCTGCCACCGGGACGTCGGGCGGGGAGACCTCGGGCGGGGGTCGGCGGGCTCCGGGAAGCCGAGCCCGAGGCGAGGGAGCGACCTCGGGCGGAGAGGCGAAGTCCGGAGGAGGGAAGCGCGAAGAGCCAGGGCCCGGGACGCGAGAGGGGGCGCGACGGCGGCTGCGGTCGGCCCGGCGCCCACCTGGTCGCTCCTGCGAGCAGCGCCCCGCGTCCCGCCCGCGCGGAGCCCGCACCTCTCGGCCGCGCCGCCGCCGCCGGCGAGGAGCCGCACCCGGGCGCAGCGCCGCCCGCCCGCGATGACGGCCGCTCGGGCCGGGGACGGGGAGGCGGGGGCGCGGGGCTGGCGGCGCGGGGGCCTCGGCTCCCCCCTCCCGCCTCCCCGCCCCCCATCCTGCCTCCCTGTTCCCCCCCGCACCGCCGCCGGGGCCGCTCCGAGGCGCACCTGGGACCCGGGCCCCTCAGCCGCCACCCCGCCCTGCGCCAACCCGCCGCGCCGGGGCCGGGGGCCGGCCCCTCTATATCGGCGCGTGCGGTATCCGGGGGCGGAGGCCCGGTCGTGTCCTCCCCCCAAGCCCGGCCCGCGCCGGCACCCTCTCCGCAGTCCAGCTCGAGTCTTCGCCCTCATCCTCCAGGCCCCCCAGCCGCAGCCCGGCTCCCCGGACCCCGAGCGCGGCCAGAGAGCTGCGGAGCCCGAGTGCCCCGCGATCTGGGCAGGTATAGGGCAGTGGGGGCCTT | CTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGCTGGCTGGGGTTGGGTATTTTGGGGGCATGGGGACCTCCTCACAGAGGGAGGAGCTCTGCCGACCCTGTGCTGGGGCCCTGGCAGGGGCTGGGGAAAGAGTCATCTCCATAGGGTTCACTTTTGGATACTTCTCAGCCCAACCCAGGCTGGCCTTGCCAGCGTCCCTTCCCCGCCCGAGGCCCACCCAGCGCCAGCGCCCGGTTCTCTTGCAGCGACTGGGCCCTAATGTCGCACGAGGGGCCTTCGCGAAGGCCAATGGTACTATCCCCTCAGCCCCTCTCCCACCCCCACCCCCTACCCCCTCAGGCTGTGGGGGGTCAGGGGTCGAGGCCCGCGCGGCGCGCACCTTCCAGGCGCATCCCCACCGTCAGGCATTTCTGGAAGCGGCAGAAGGGACAGCGCTTGCGCTGCGTCTTGTCGATCTTGCAGCTCTGGCTCTCGGTGCACGTGTAGTGCTTGTTCTGCACCGTGCGCTTGAAGAAGCCCTGCGGGAGCTGAGAGTCAGCGAGGCCCCGCAGCGCCCGTCTGCCGCACCCCTGCCGCGCGCTCGCCGCTCACCTTGCAGCTCTCACACGTGAGCAGTCCGTAGTGGTAGCCGGACACCTTGTCCCCGCACACGGGGCACAGCTCGTCCAGGTCCTCGTCGTACGAATAGTCCATGCCCGCGGCGTCCGCCTGCGGAGGGACAGCGGGTCAGGGAGGGCCGGCGGAGACCGGCAGCCTGGGGTCCCCGCGGCCGCCGCCCCAGCCGCTGTCGCCGGCCCGTCGCGTAATCCCCTCTCTGTGCCCAGGCGCTGCCGCCGGCACCCACCGAGCGCCCCGCGCAGCGTCCCGGGGTGGGTCCGGTGCAGTCCCCGCGCCCGGCCTTCCCCTGCCAGGCCCCACGCTCCCGCCCCGTCCGGGGGGCTCCTCCCGCGCGGACCCCGTCGCGCCCGATCTGGGGCCCTCGGGTTCGATGCGCTTCGATTGGGATTCGTTTGTCTGAGAACAAAACCCCGATTCTGAGAAAAAGAGATGGGCTCAGCCGCGGGGAAGACGCCAGGGGACCCAGGAGCGCTGGGGCGCCCGGCCCGGGTGTTCTGGGAACCCGACAGAGACGAAGGAGGCAGAGACAGAGTCCGGGGGAGCCAGAGATGGGAAGAAACTCTGGCGAGAGACAACGACCGACGCCACCGGGCGCAGACACGAGGCCAGTCCGAGAGTGCCAGAGACACAGACACTGAGACGCCCAGCTAGAGAGAACCCGGCGGGGACGAGACACAGGGAGGGATGGAGAGAGACAGGGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGACGAGAGAGAGAGAGAGAGAGAGAAACGAGGGGTGGGGGATTGGATCAGAGACTCGGAGAGACAGCGGAGGCCCGAAGAGAAAACCCAAGAGAGACTGACGCAGAGCCAGAGACACAACGATAGACGACAGACAGAGACGCCGAGACGAGAGGAGCCCCGGAGAGACGAGGCCGGGGAGCTACAGAAACACGGAGAGAAAACCTGGAGGCGGAAGCGCCCAGCCCGAGGGTCGGGGACAGGGGACGCGCGGAAACCTGCCGGGCAGGAGCCCAAGCGCCAAGGCGAGGCCCCGCAGGGTCGGACCCAGACGGGGGCCCGGGCCGCAGGAGGCGGAAAACGACGGCGCCGGGACCGAGAGCCCGAAAACGCAGAGCCGCCGGGACCCCCTCCCCGGGGGAGACAAAGCCGCAGCAGCGACGGCAACGGGAGGCGCAGCCCGAGCCGCCGCTGCCACCGGGACGTCGGGCGGGGAGACCTCGGGCGGGGGTCGGCGGGCTCCGGGAAGCCGAGCCCGAGGCGAGGGAGCGACCTCGGGCGGAGAGGCGAAGTCCGGAGGAGGGAAGCGCGAAGAGCCAGGGCCCGGGACGCGAGAGGGGGCGCGACGGCGGCTGCGGTCGGCCCGGCGCCCACCTGGTCGCTCCTGCGAGCAGCGCCCCGCGTCCCGCCCGCGCGGAGCCCGCACCTCTCGGCCGCGCCGCCGCCGCCGGCGAGGAGCCGCACCCGGGCGCAGCGCCGCCCGCCCGCGATGACGGCCGCTCGGGCCGGGGACGGGGAGGCGGGGGCGCGGGGCTGGCGGCGCGGGGGCCTCGGCTCCCCCCTCCCGCCTCCCCGCCCCCCATCCTGCCTCCCTGTTCCCCCCCGCACCGCCGCCGGGGCCGCTCCGAGGCGCACCTGGGACCCGGGCCCCTCAGCCGCCACCCCGCCCTGCGCCAACCCGCCGCGCCGGGGCCGGGGGCCGGCCCCTCTATATCGGCGCGTGCGGTATCCGGGGGCGGAGGCCCGGTCGTGTCCTCCCCCCAAGCCCGGCCCGCGCCGGCACCCTCTCCGCAGTCCAGCTCGAGTCTTCGCCCTCATCCTCCAGGCCCCCCAGCCGCAGCCCGGCTCCCCGGACCCCGAGCGCGGCCAGAGAGCTGCGGAGCCCGAGTGCCCCGCGATCTGGGCAGGTATAGGGCAGTGGGGGCCTTNNN | pathogenic | 149,965 |
The mutation impacting LMX1B (LIM homeobox transcription factor 1 beta) on chromosome 9 at position 126615449: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Nail-patella_syndrome'] | AGCAGGCGCCGCCGCCCGGGGGACTCCGACTCAGCCCCCGCGACCTACCTCGGCCGACAGTCGGGGGTTCCCAAGCGGCCACTCCCGGCCGGCGCCGTCCCCTGGCGGAGCCGCCGCGCTCCCTGCCGTCCGCGCAGTCTGGCCTCGCTCGGGGCCACTCCTCGTAGCGCTGGAGCTTTACAAAATATTAATAATAAAGAAGGCAGAGGAGAAAAAAGAAAGCCTTCGCTCCCCAACTCCCAAATCAATTTTTCAAGGGGGTGGAGCAGAGGGATTTGTTTCGAAGACGATCAAAACTTCTGCGAGGGGCCCGCGGGGCGGCCGGGCCGGGGAGCCGGGGCCTGAGCTCGGGGCCAGGCGCGGCGCGGGGCGCGGGCCAGGGGCGCGGAGCCCCGGGGCGCGCGGGGGGGCGGGACGGCACTATTTGACGTGGAGCCGGCGGCGCATCCCGGCGCAGGGATACCGGCCGCGGGGTTCAAATGTCAGGAAGTTTCGGGAGGTGAGGCGGCCCGTATCCCTCCGCCGCCAGCCCCAGCTCTAAACCCGGCGGCTCAGCGGGCGCACCATGGCACTGGAGTAGCGCGGGGAGCGCGCCCGGAGCCCCGCGGCCCGCTGCGCCCCGCCCGGGACCCCGCTGCGCCGCGCGCCCCCCCCGCGGCCCGCGGGGCCGCCCCTGCACCCCCACCCCCTCCCCCGCCTGCCGCCGCCGCCACCGCCACCGCCGCCGCCGCCTCCTCCCCGCGGCTCCGTCTGCAGCAGCCGCCGCCGCCGGGTTCCGGGACTGACAAGCAGGTGACAGAGGAGCCGGCGCGCGTGGCTGCAAGTGTCCGGGAGAGCGCGGCGCGGGCTGCAGCCGCCCCGGCCCGCCCGCACGACGCCGGGGCCCGGGGCCAGCGCGTCGCCGCTCCACGATCGCCGGGGGCCGGCGCAACCCCTGCCCTGCGGGGGCCGCGCCTCCCCGGTTCCAGGGCCGCGGCGGCGGAGAGCGGGTGGACGGGCCGGCGGGCGAGCAGCCCGGCCGGCGGGGTCCGCAGCGCGCCCCGCGTCCCATGGATATAGCAACAGGTCCCGAGTCGCTGGAGAGGTGCTTCCCTCGCGGGCAGACGGACTGCGCCAAGATGTTGGACGGCATCAAGATGGAGGAGCACGCCCTGCGCCCCGGGCCCGCCACTCTGGGGGTGCTGCTGGGTGAGTGCGGGGTCGGAACGCCCGAGTGGTCTCGGGCGTGGGATGGGGCGTCGTCCGGCTGTGGACACGGGCGTTGGGGCCAACGGATAAAGGAAATGGGTTTGCAGGACATGGGGAGGAGGCAGAGACAGGACTCCTGGAGTGATCGCCAGAGGGCCGCAAGTACGCCTCCGGCAGGCGTCCTGAGGGGACAGGACAGCTCCAGTCGCCACCCACCATCCTTTCCAGGCTTAGGTTCTAGAGCTGCCACTCCGATGTGGTAGGTGGCGGGTGGCAGGGGTGATGGAGGACCTAGCAATCACCTTGGCGAGCTTGGGAGAGGCGCAAGGTCACCTGGGGTGGGGGAGATTCTAAGAGAAAAACGTCTCCCTGGTCACTCAAACCACAGATTTTGGGGAGATCGGGGATAGAAGACCACGAACGCCACCGTGGGGCGTGTCAGCCAGCGAGCGCCCCAGCCTCACCTCGCCTGTCTTGGTCCCAGCCGGCCACCCTGCGCCGTGCTCGTTGTCATTTGTCTTAACACGGAGCGCGGATTCTCCGGAGAAGGGGAGAGCACAGCGCCGAGCCAAGGCTCGAGGCCCGCGGCCTCTCCACGCCGGAGCCCGAGGACTGGGACGGACTAGCCGGGGCCGCCCGGCCCCTGGCGCGGCGGTCCGGGGAGCGCAGGCGGCAGGCGGTGATCCCGGGCGGCCCGAGCCCTCGGGGCCGAGGGCTGTGGGCCCGGTGCGACCGGGACGCCGGGGCTGGGCCGGGCGGCGCTGACGGCCGGGCTTTCGCCCTGTGCGCTACAGGCTCCGACTGCCCGCATCCCGCCGTCTGCGAGGGCTGCCAGCGGCCCATCTCCGACCGCTTCCTGATGCGAGTCAACGAGTCGTCCTGGCACGAGGAGTGTTTGCAGTGCGCGGCGTGTCAGCAAGCCCTCACCACCAGCTGCTACTTCCGGGATCGGAAACTGTACTGCAAACAAGACTACCAACAGTAAGCGCTTCTCGTCCTCCTTCCCCGCCACCGCCCGGCACTCGAGCCCGGTCAGCCCCCTGCCGGGCCCGGCCCGCGCCCGCTCTGCCGCCGGCTCTGTGCGCGGCTGGGCCGGGCAGCTCCAAGGGTTCCGAGAGCTGCGCGTCTTGGGGCTGGGGCGGACCAGCCCAGCCCAGCGGGCACTGATGGGGTCCTGGGAGCCTCCGGACGGCCCCCAGTTGCCATCCGTTGTCCCGGAATCCTGCGCTGGGCCGGCCGAGGGATTTGGTGCCTGGGTCCTGGGATATAGGGTCTGGCGCTACGGAGGCCTGAATTGGGAACCCAAAATTGATTTCCAAAGGAAAATAATGTTTTAGGGAGCCAGGCCTGGCGGACTGCTTCAAGGGCCTGGTGTGTGGGGGTTTGGGATTCCTGGAGCCTGGAGCCAGGAGCCAGGAGGTGGAGTGCTGGGACACTGAACGGCCTGAGCGGCAAGGGAGGCCCCCTTTCTGCCAGGCTCACTGCTGCACTTTTAGTCCCTGATGGAGAGAAAAGAATGTCCATATTCCCCAAACCGTTCCATGCGGGAATTTTGCACTTGCAGTTTTCTTTGGTTGGAGAAGCACTCTAGGAAGAGGATCTCAAAAGGTGGCAAGTTACAATTTGGGGCTCCCAATGGGAGTGAGGAGCTGACTGAGTCAGCCCTTCCCACAAGGCCTCCTTTCTGGTAGTGTGTATTGAGGAGGGAGATGGCCCGCTCTGCCCTGGTATAACCCAAACCTCAGGGCTGAGGCCAGAGATGTGGGTTGAGCCCTTCTTGCTAACTAGTTTTTAGCTGAGACTGGATTTGTATGGCCGGGGTTGGGGACAGACAACAGGACATGCAGGCTTTTTCTTTTGACCTCCTGGGTTTTCTGCCTGGCACTGCAATTGGGAGGGAGGCAGTGAGGAGCCACAACTGAAAGAGGGGTGTGGAGATCCCCAAAGCTCTGTTGCAGACACAGCGGGTGCCTGCGAAAACTTTAGTGATGCCAGAAAACCGTCCTGGATGAGGCTGCAGAGCGGGTAGGCTGCTTAGGTGGTTTGGTGCTCAGAGAGGGCTGTGTATGCCCAAGCCTCCAGGGAAGGAAAAGCTGGGCTGCCGGCGCCTCGTGGTGAGTGCAACCTACCTGTTCTGCCCAGGGATTGTCCCCAGTCCAGGGCCTAGTGGAAAGCAGCGCAGCCCAACTGTTTAACTGAGGCCTGGAAACAGTGCAGGCCAGAGCCCTAGAGAGGGCATCGGATTCTACCCCAAAAGGCTCTGGCTGTGCCTGGTGGTCTGGGGGCTGAGCCTGAGCTGCTTTTTGCACCTAGCTCTTTCTTCCGGCTGAGGGATCTTTGGGTAGGGATTGGAGTCCATTCAGAGGTTCAGCTGTTTTGCTGGTCCCAGAGTGCAGCTGAGGCCTTCCTCTCAGTAGGAAGCACCCCAGATTTAGGCACACTGCCGTAGGTCGGCTTTGTGCTGTGCTCTGAACTAATATGATTCTAGTTCCGGGAGAGGGAGACGCCAGTCCGTTCAGTCACAGCCCAAGCATAGAGCAGCACAAATTGAATGGGGAAAATAGTTTGGGGTAGATGTGGCTGTGGGCTCTGGGCTGGCTAGAGGAGCCCCTCTGTAGGGTGCACCAGCCTCTAGCCCCCTCCCCACCACGCCCTGCACCCCTGGCCTCACTCTGCTTGCCTGATCCCGAGCTCTGGCAGTGCCACTTACACCCAGCTCAGCCACCAGCCTTTACGACAACACATGGGGGAAGGGGGCCCAGGAAACTAAAACCGGCCTCCAAATCATTTGCACAGCTTAAAAAAAAGAAAAAAACTTGTTAATATATTGAAAAGACTTATGAATCGCGTGTACATATTCTGCCCTCCCCCCACTCCCCATAATTATTTACGGAGCTTCTCTTTAAAA | AGCAGGCGCCGCCGCCCGGGGGACTCCGACTCAGCCCCCGCGACCTACCTCGGCCGACAGTCGGGGGTTCCCAAGCGGCCACTCCCGGCCGGCGCCGTCCCCTGGCGGAGCCGCCGCGCTCCCTGCCGTCCGCGCAGTCTGGCCTCGCTCGGGGCCACTCCTCGTAGCGCTGGAGCTTTACAAAATATTAATAATAAAGAAGGCAGAGGAGAAAAAAGAAAGCCTTCGCTCCCCAACTCCCAAATCAATTTTTCAAGGGGGTGGAGCAGAGGGATTTGTTTCGAAGACGATCAAAACTTCTGCGAGGGGCCCGCGGGGCGGCCGGGCCGGGGAGCCGGGGCCTGAGCTCGGGGCCAGGCGCGGCGCGGGGCGCGGGCCAGGGGCGCGGAGCCCCGGGGCGCGCGGGGGGGCGGGACGGCACTATTTGACGTGGAGCCGGCGGCGCATCCCGGCGCAGGGATACCGGCCGCGGGGTTCAAATGTCAGGAAGTTTCGGGAGGTGAGGCGGCCCGTATCCCTCCGCCGCCAGCCCCAGCTCTAAACCCGGCGGCTCAGCGGGCGCACCATGGCACTGGAGTAGCGCGGGGAGCGCGCCCGGAGCCCCGCGGCCCGCTGCGCCCCGCCCGGGACCCCGCTGCGCCGCGCGCCCCCCCCGCGGCCCGCGGGGCCGCCCCTGCACCCCCACCCCCTCCCCCGCCTGCCGCCGCCGCCACCGCCACCGCCGCCGCCGCCTCCTCCCCGCGGCTCCGTCTGCAGCAGCCGCCGCCGCCGGGTTCCGGGACTGACAAGCAGGTGACAGAGGAGCCGGCGCGCGTGGCTGCAAGTGTCCGGGAGAGCGCGGCGCGGGCTGCAGCCGCCCCGGCCCGCCCGCACGACGCCGGGGCCCGGGGCCAGCGCGTCGCCGCTCCACGATCGCCGGGGGCCGGCGCAACCCCTGCCCTGCGGGGGCCGCGCCTCCCCGGTTCCAGGGCCGCGGCGGCGGAGAGCGGGTGGACGGGCCGGCGGGCGAGCAGCCCGGCCGGCGGGGTCCGCAGCGCGCCCCGCGTCCCATGGATATAGCAACAGGTCCCGAGTCGCTGGAGAGGTGCTTCCCTCGCGGGCAGACGGACTGCGCCAAGATGTTGGACGGCATCAAGATGGAGGAGCACGCCCTGCGCCCCGGGCCCGCCACTCTGGGGGTGCTGCTGGGTGAGTGCGGGGTCGGAACGCCCGAGTGGTCTCGGGCGTGGGATGGGGCGTCGTCCGGCTGTGGACACGGGCGTTGGGGCCAACGGATAAAGGAAATGGGTTTGCAGGACATGGGGAGGAGGCAGAGACAGGACTCCTGGAGTGATCGCCAGAGGGCCGCAAGTACGCCTCCGGCAGGCGTCCTGAGGGGACAGGACAGCTCCAGTCGCCACCCACCATCCTTTCCAGGCTTAGGTTCTAGAGCTGCCACTCCGATGTGGTAGGTGGCGGGTGGCAGGGGTGATGGAGGACCTAGCAATCACCTTGGCGAGCTTGGGAGAGGCGCAAGGTCACCTGGGGTGGGGGAGATTCTAAGAGAAAAACGTCTCCCTGGTCACTCAAACCACAGATTTTGGGGAGATCGGGGATAGAAGACCACGAACGCCACCGTGGGGCGTGTCAGCCAGCGAGCGCCCCAGCCTCACCTCGCCTGTCTTGGTCCCAGCCGGCCACCCTGCGCCGTGCTCGTTGTCATTTGTCTTAACACGGAGCGCGGATTCTCCGGAGAAGGGGAGAGCACAGCGCCGAGCCAAGGCTCGAGGCCCGCGGCCTCTCCACGCCGGAGCCCGAGGACTGGGACGGACTAGCCGGGGCCGCCCGGCCCCTGGCGCGGCGGTCCGGGGAGCGCAGGCGGCAGGCGGTGATCCCGGGCGGCCCGAGCCCTCGGGGCCGAGGGCTGTGGGCCCGGTGCGACCGGGACGCCGGGGCTGGGCCGGGCGGCGCTGACGGCCGGGCTTTCGCCCTGTGCGCTACAGGCTCCGACTGCCCGCATCCCGCCGTCTGCGAGGGCTGCCAGCGGCCCATCTCCGACCGCTTCCTGATGGCGAGTCAACGAGTCGTCCTGGCACGAGGAGTGTTTGCAGTGCGCGGCGTGTCAGCAAGCCCTCACCACCAGCTGCTACTTCCGGGATCGGAAACTGTACTGCAAACAAGACTACCAACAGTAAGCGCTTCTCGTCCTCCTTCCCCGCCACCGCCCGGCACTCGAGCCCGGTCAGCCCCCTGCCGGGCCCGGCCCGCGCCCGCTCTGCCGCCGGCTCTGTGCGCGGCTGGGCCGGGCAGCTCCAAGGGTTCCGAGAGCTGCGCGTCTTGGGGCTGGGGCGGACCAGCCCAGCCCAGCGGGCACTGATGGGGTCCTGGGAGCCTCCGGACGGCCCCCAGTTGCCATCCGTTGTCCCGGAATCCTGCGCTGGGCCGGCCGAGGGATTTGGTGCCTGGGTCCTGGGATATAGGGTCTGGCGCTACGGAGGCCTGAATTGGGAACCCAAAATTGATTTCCAAAGGAAAATAATGTTTTAGGGAGCCAGGCCTGGCGGACTGCTTCAAGGGCCTGGTGTGTGGGGGTTTGGGATTCCTGGAGCCTGGAGCCAGGAGCCAGGAGGTGGAGTGCTGGGACACTGAACGGCCTGAGCGGCAAGGGAGGCCCCCTTTCTGCCAGGCTCACTGCTGCACTTTTAGTCCCTGATGGAGAGAAAAGAATGTCCATATTCCCCAAACCGTTCCATGCGGGAATTTTGCACTTGCAGTTTTCTTTGGTTGGAGAAGCACTCTAGGAAGAGGATCTCAAAAGGTGGCAAGTTACAATTTGGGGCTCCCAATGGGAGTGAGGAGCTGACTGAGTCAGCCCTTCCCACAAGGCCTCCTTTCTGGTAGTGTGTATTGAGGAGGGAGATGGCCCGCTCTGCCCTGGTATAACCCAAACCTCAGGGCTGAGGCCAGAGATGTGGGTTGAGCCCTTCTTGCTAACTAGTTTTTAGCTGAGACTGGATTTGTATGGCCGGGGTTGGGGACAGACAACAGGACATGCAGGCTTTTTCTTTTGACCTCCTGGGTTTTCTGCCTGGCACTGCAATTGGGAGGGAGGCAGTGAGGAGCCACAACTGAAAGAGGGGTGTGGAGATCCCCAAAGCTCTGTTGCAGACACAGCGGGTGCCTGCGAAAACTTTAGTGATGCCAGAAAACCGTCCTGGATGAGGCTGCAGAGCGGGTAGGCTGCTTAGGTGGTTTGGTGCTCAGAGAGGGCTGTGTATGCCCAAGCCTCCAGGGAAGGAAAAGCTGGGCTGCCGGCGCCTCGTGGTGAGTGCAACCTACCTGTTCTGCCCAGGGATTGTCCCCAGTCCAGGGCCTAGTGGAAAGCAGCGCAGCCCAACTGTTTAACTGAGGCCTGGAAACAGTGCAGGCCAGAGCCCTAGAGAGGGCATCGGATTCTACCCCAAAAGGCTCTGGCTGTGCCTGGTGGTCTGGGGGCTGAGCCTGAGCTGCTTTTTGCACCTAGCTCTTTCTTCCGGCTGAGGGATCTTTGGGTAGGGATTGGAGTCCATTCAGAGGTTCAGCTGTTTTGCTGGTCCCAGAGTGCAGCTGAGGCCTTCCTCTCAGTAGGAAGCACCCCAGATTTAGGCACACTGCCGTAGGTCGGCTTTGTGCTGTGCTCTGAACTAATATGATTCTAGTTCCGGGAGAGGGAGACGCCAGTCCGTTCAGTCACAGCCCAAGCATAGAGCAGCACAAATTGAATGGGGAAAATAGTTTGGGGTAGATGTGGCTGTGGGCTCTGGGCTGGCTAGAGGAGCCCCTCTGTAGGGTGCACCAGCCTCTAGCCCCCTCCCCACCACGCCCTGCACCCCTGGCCTCACTCTGCTTGCCTGATCCCGAGCTCTGGCAGTGCCACTTACACCCAGCTCAGCCACCAGCCTTTACGACAACACATGGGGGAAGGGGGCCCAGGAAACTAAAACCGGCCTCCAAATCATTTGCACAGCTTAAAAAAAAGAAAAAAACTTGTTAATATATTGAAAAGACTTATGAATCGCGTGTACATATTCTGCCCTCCCCCCACTCCCCATAATTATTTACGGAGCTTCTCTTTAAA | pathogenic | 149,996 |
Mutation at chromosome 9, position 126615544, within LMX1B (LIM homeobox transcription factor 1 beta): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Nail-patella_syndrome'] | CGTCCCCTGGCGGAGCCGCCGCGCTCCCTGCCGTCCGCGCAGTCTGGCCTCGCTCGGGGCCACTCCTCGTAGCGCTGGAGCTTTACAAAATATTAATAATAAAGAAGGCAGAGGAGAAAAAAGAAAGCCTTCGCTCCCCAACTCCCAAATCAATTTTTCAAGGGGGTGGAGCAGAGGGATTTGTTTCGAAGACGATCAAAACTTCTGCGAGGGGCCCGCGGGGCGGCCGGGCCGGGGAGCCGGGGCCTGAGCTCGGGGCCAGGCGCGGCGCGGGGCGCGGGCCAGGGGCGCGGAGCCCCGGGGCGCGCGGGGGGGCGGGACGGCACTATTTGACGTGGAGCCGGCGGCGCATCCCGGCGCAGGGATACCGGCCGCGGGGTTCAAATGTCAGGAAGTTTCGGGAGGTGAGGCGGCCCGTATCCCTCCGCCGCCAGCCCCAGCTCTAAACCCGGCGGCTCAGCGGGCGCACCATGGCACTGGAGTAGCGCGGGGAGCGCGCCCGGAGCCCCGCGGCCCGCTGCGCCCCGCCCGGGACCCCGCTGCGCCGCGCGCCCCCCCCGCGGCCCGCGGGGCCGCCCCTGCACCCCCACCCCCTCCCCCGCCTGCCGCCGCCGCCACCGCCACCGCCGCCGCCGCCTCCTCCCCGCGGCTCCGTCTGCAGCAGCCGCCGCCGCCGGGTTCCGGGACTGACAAGCAGGTGACAGAGGAGCCGGCGCGCGTGGCTGCAAGTGTCCGGGAGAGCGCGGCGCGGGCTGCAGCCGCCCCGGCCCGCCCGCACGACGCCGGGGCCCGGGGCCAGCGCGTCGCCGCTCCACGATCGCCGGGGGCCGGCGCAACCCCTGCCCTGCGGGGGCCGCGCCTCCCCGGTTCCAGGGCCGCGGCGGCGGAGAGCGGGTGGACGGGCCGGCGGGCGAGCAGCCCGGCCGGCGGGGTCCGCAGCGCGCCCCGCGTCCCATGGATATAGCAACAGGTCCCGAGTCGCTGGAGAGGTGCTTCCCTCGCGGGCAGACGGACTGCGCCAAGATGTTGGACGGCATCAAGATGGAGGAGCACGCCCTGCGCCCCGGGCCCGCCACTCTGGGGGTGCTGCTGGGTGAGTGCGGGGTCGGAACGCCCGAGTGGTCTCGGGCGTGGGATGGGGCGTCGTCCGGCTGTGGACACGGGCGTTGGGGCCAACGGATAAAGGAAATGGGTTTGCAGGACATGGGGAGGAGGCAGAGACAGGACTCCTGGAGTGATCGCCAGAGGGCCGCAAGTACGCCTCCGGCAGGCGTCCTGAGGGGACAGGACAGCTCCAGTCGCCACCCACCATCCTTTCCAGGCTTAGGTTCTAGAGCTGCCACTCCGATGTGGTAGGTGGCGGGTGGCAGGGGTGATGGAGGACCTAGCAATCACCTTGGCGAGCTTGGGAGAGGCGCAAGGTCACCTGGGGTGGGGGAGATTCTAAGAGAAAAACGTCTCCCTGGTCACTCAAACCACAGATTTTGGGGAGATCGGGGATAGAAGACCACGAACGCCACCGTGGGGCGTGTCAGCCAGCGAGCGCCCCAGCCTCACCTCGCCTGTCTTGGTCCCAGCCGGCCACCCTGCGCCGTGCTCGTTGTCATTTGTCTTAACACGGAGCGCGGATTCTCCGGAGAAGGGGAGAGCACAGCGCCGAGCCAAGGCTCGAGGCCCGCGGCCTCTCCACGCCGGAGCCCGAGGACTGGGACGGACTAGCCGGGGCCGCCCGGCCCCTGGCGCGGCGGTCCGGGGAGCGCAGGCGGCAGGCGGTGATCCCGGGCGGCCCGAGCCCTCGGGGCCGAGGGCTGTGGGCCCGGTGCGACCGGGACGCCGGGGCTGGGCCGGGCGGCGCTGACGGCCGGGCTTTCGCCCTGTGCGCTACAGGCTCCGACTGCCCGCATCCCGCCGTCTGCGAGGGCTGCCAGCGGCCCATCTCCGACCGCTTCCTGATGCGAGTCAACGAGTCGTCCTGGCACGAGGAGTGTTTGCAGTGCGCGGCGTGTCAGCAAGCCCTCACCACCAGCTGCTACTTCCGGGATCGGAAACTGTACTGCAAACAAGACTACCAACAGTAAGCGCTTCTCGTCCTCCTTCCCCGCCACCGCCCGGCACTCGAGCCCGGTCAGCCCCCTGCCGGGCCCGGCCCGCGCCCGCTCTGCCGCCGGCTCTGTGCGCGGCTGGGCCGGGCAGCTCCAAGGGTTCCGAGAGCTGCGCGTCTTGGGGCTGGGGCGGACCAGCCCAGCCCAGCGGGCACTGATGGGGTCCTGGGAGCCTCCGGACGGCCCCCAGTTGCCATCCGTTGTCCCGGAATCCTGCGCTGGGCCGGCCGAGGGATTTGGTGCCTGGGTCCTGGGATATAGGGTCTGGCGCTACGGAGGCCTGAATTGGGAACCCAAAATTGATTTCCAAAGGAAAATAATGTTTTAGGGAGCCAGGCCTGGCGGACTGCTTCAAGGGCCTGGTGTGTGGGGGTTTGGGATTCCTGGAGCCTGGAGCCAGGAGCCAGGAGGTGGAGTGCTGGGACACTGAACGGCCTGAGCGGCAAGGGAGGCCCCCTTTCTGCCAGGCTCACTGCTGCACTTTTAGTCCCTGATGGAGAGAAAAGAATGTCCATATTCCCCAAACCGTTCCATGCGGGAATTTTGCACTTGCAGTTTTCTTTGGTTGGAGAAGCACTCTAGGAAGAGGATCTCAAAAGGTGGCAAGTTACAATTTGGGGCTCCCAATGGGAGTGAGGAGCTGACTGAGTCAGCCCTTCCCACAAGGCCTCCTTTCTGGTAGTGTGTATTGAGGAGGGAGATGGCCCGCTCTGCCCTGGTATAACCCAAACCTCAGGGCTGAGGCCAGAGATGTGGGTTGAGCCCTTCTTGCTAACTAGTTTTTAGCTGAGACTGGATTTGTATGGCCGGGGTTGGGGACAGACAACAGGACATGCAGGCTTTTTCTTTTGACCTCCTGGGTTTTCTGCCTGGCACTGCAATTGGGAGGGAGGCAGTGAGGAGCCACAACTGAAAGAGGGGTGTGGAGATCCCCAAAGCTCTGTTGCAGACACAGCGGGTGCCTGCGAAAACTTTAGTGATGCCAGAAAACCGTCCTGGATGAGGCTGCAGAGCGGGTAGGCTGCTTAGGTGGTTTGGTGCTCAGAGAGGGCTGTGTATGCCCAAGCCTCCAGGGAAGGAAAAGCTGGGCTGCCGGCGCCTCGTGGTGAGTGCAACCTACCTGTTCTGCCCAGGGATTGTCCCCAGTCCAGGGCCTAGTGGAAAGCAGCGCAGCCCAACTGTTTAACTGAGGCCTGGAAACAGTGCAGGCCAGAGCCCTAGAGAGGGCATCGGATTCTACCCCAAAAGGCTCTGGCTGTGCCTGGTGGTCTGGGGGCTGAGCCTGAGCTGCTTTTTGCACCTAGCTCTTTCTTCCGGCTGAGGGATCTTTGGGTAGGGATTGGAGTCCATTCAGAGGTTCAGCTGTTTTGCTGGTCCCAGAGTGCAGCTGAGGCCTTCCTCTCAGTAGGAAGCACCCCAGATTTAGGCACACTGCCGTAGGTCGGCTTTGTGCTGTGCTCTGAACTAATATGATTCTAGTTCCGGGAGAGGGAGACGCCAGTCCGTTCAGTCACAGCCCAAGCATAGAGCAGCACAAATTGAATGGGGAAAATAGTTTGGGGTAGATGTGGCTGTGGGCTCTGGGCTGGCTAGAGGAGCCCCTCTGTAGGGTGCACCAGCCTCTAGCCCCCTCCCCACCACGCCCTGCACCCCTGGCCTCACTCTGCTTGCCTGATCCCGAGCTCTGGCAGTGCCACTTACACCCAGCTCAGCCACCAGCCTTTACGACAACACATGGGGGAAGGGGGCCCAGGAAACTAAAACCGGCCTCCAAATCATTTGCACAGCTTAAAAAAAAGAAAAAAACTTGTTAATATATTGAAAAGACTTATGAATCGCGTGTACATATTCTGCCCTCCCCCCACTCCCCATAATTATTTACGGAGCTTCTCTTTAAAAAAAAAAAGGAAAGGATAACCCCTGGTTCTTCAGGCACAGAATGGTAAAGTCACGAAATTTCAGCTGGATGTTGCCTTAGAGATGAGCGGCTCACC 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CGTCCCCTGGCGGAGCCGCCGCGCTCCCTGCCGTCCGCGCAGTCTGGCCTCGCTCGGGGCCACTCCTCGTAGCGCTGGAGCTTTACAAAATATTAATAATAAAGAAGGCAGAGGAGAAAAAAGAAAGCCTTCGCTCCCCAACTCCCAAATCAATTTTTCAAGGGGGTGGAGCAGAGGGATTTGTTTCGAAGACGATCAAAACTTCTGCGAGGGGCCCGCGGGGCGGCCGGGCCGGGGAGCCGGGGCCTGAGCTCGGGGCCAGGCGCGGCGCGGGGCGCGGGCCAGGGGCGCGGAGCCCCGGGGCGCGCGGGGGGGCGGGACGGCACTATTTGACGTGGAGCCGGCGGCGCATCCCGGCGCAGGGATACCGGCCGCGGGGTTCAAATGTCAGGAAGTTTCGGGAGGTGAGGCGGCCCGTATCCCTCCGCCGCCAGCCCCAGCTCTAAACCCGGCGGCTCAGCGGGCGCACCATGGCACTGGAGTAGCGCGGGGAGCGCGCCCGGAGCCCCGCGGCCCGCTGCGCCCCGCCCGGGACCCCGCTGCGCCGCGCGCCCCCCCCGCGGCCCGCGGGGCCGCCCCTGCACCCCCACCCCCTCCCCCGCCTGCCGCCGCCGCCACCGCCACCGCCGCCGCCGCCTCCTCCCCGCGGCTCCGTCTGCAGCAGCCGCCGCCGCCGGGTTCCGGGACTGACAAGCAGGTGACAGAGGAGCCGGCGCGCGTGGCTGCAAGTGTCCGGGAGAGCGCGGCGCGGGCTGCAGCCGCCCCGGCCCGCCCGCACGACGCCGGGGCCCGGGGCCAGCGCGTCGCCGCTCCACGATCGCCGGGGGCCGGCGCAACCCCTGCCCTGCGGGGGCCGCGCCTCCCCGGTTCCAGGGCCGCGGCGGCGGAGAGCGGGTGGACGGGCCGGCGGGCGAGCAGCCCGGCCGGCGGGGTCCGCAGCGCGCCCCGCGTCCCATGGATATAGCAACAGGTCCCGAGTCGCTGGAGAGGTGCTTCCCTCGCGGGCAGACGGACTGCGCCAAGATGTTGGACGGCATCAAGATGGAGGAGCACGCCCTGCGCCCCGGGCCCGCCACTCTGGGGGTGCTGCTGGGTGAGTGCGGGGTCGGAACGCCCGAGTGGTCTCGGGCGTGGGATGGGGCGTCGTCCGGCTGTGGACACGGGCGTTGGGGCCAACGGATAAAGGAAATGGGTTTGCAGGACATGGGGAGGAGGCAGAGACAGGACTCCTGGAGTGATCGCCAGAGGGCCGCAAGTACGCCTCCGGCAGGCGTCCTGAGGGGACAGGACAGCTCCAGTCGCCACCCACCATCCTTTCCAGGCTTAGGTTCTAGAGCTGCCACTCCGATGTGGTAGGTGGCGGGTGGCAGGGGTGATGGAGGACCTAGCAATCACCTTGGCGAGCTTGGGAGAGGCGCAAGGTCACCTGGGGTGGGGGAGATTCTAAGAGAAAAACGTCTCCCTGGTCACTCAAACCACAGATTTTGGGGAGATCGGGGATAGAAGACCACGAACGCCACCGTGGGGCGTGTCAGCCAGCGAGCGCCCCAGCCTCACCTCGCCTGTCTTGGTCCCAGCCGGCCACCCTGCGCCGTGCTCGTTGTCATTTGTCTTAACACGGAGCGCGGATTCTCCGGAGAAGGGGAGAGCACAGCGCCGAGCCAAGGCTCGAGGCCCGCGGCCTCTCCACGCCGGAGCCCGAGGACTGGGACGGACTAGCCGGGGCCGCCCGGCCCCTGGCGCGGCGGTCCGGGGAGCGCAGGCGGCAGGCGGTGATCCCGGGCGGCCCGAGCCCTCGGGGCCGAGGGCTGTGGGCCCGGTGCGACCGGGACGCCGGGGCTGGGCCGGGCGGCGCTGACGGCCGGGCTTTCGCCCTGTGCGCTACAGGCTCCGACTGCCCGCATCCCGCCGTCTGCGAGGGCTGCCAGCGGCCCATCTCCGACCGCTTCCTGATGCGAGTCAACGAGTCGTCCTGGCACGAGGAGTGTTTGCAGTGCGCGGCGTGTCAGCAAGCCCTCACCACCAGCTGCTACTTCCGGGATCGGAAACTACTGCAAACAAGACTACCAACAGTAAGCGCTTCTCGTCCTCCTTCCCCGCCACCGCCCGGCACTCGAGCCCGGTCAGCCCCCTGCCGGGCCCGGCCCGCGCCCGCTCTGCCGCCGGCTCTGTGCGCGGCTGGGCCGGGCAGCTCCAAGGGTTCCGAGAGCTGCGCGTCTTGGGGCTGGGGCGGACCAGCCCAGCCCAGCGGGCACTGATGGGGTCCTGGGAGCCTCCGGACGGCCCCCAGTTGCCATCCGTTGTCCCGGAATCCTGCGCTGGGCCGGCCGAGGGATTTGGTGCCTGGGTCCTGGGATATAGGGTCTGGCGCTACGGAGGCCTGAATTGGGAACCCAAAATTGATTTCCAAAGGAAAATAATGTTTTAGGGAGCCAGGCCTGGCGGACTGCTTCAAGGGCCTGGTGTGTGGGGGTTTGGGATTCCTGGAGCCTGGAGCCAGGAGCCAGGAGGTGGAGTGCTGGGACACTGAACGGCCTGAGCGGCAAGGGAGGCCCCCTTTCTGCCAGGCTCACTGCTGCACTTTTAGTCCCTGATGGAGAGAAAAGAATGTCCATATTCCCCAAACCGTTCCATGCGGGAATTTTGCACTTGCAGTTTTCTTTGGTTGGAGAAGCACTCTAGGAAGAGGATCTCAAAAGGTGGCAAGTTACAATTTGGGGCTCCCAATGGGAGTGAGGAGCTGACTGAGTCAGCCCTTCCCACAAGGCCTCCTTTCTGGTAGTGTGTATTGAGGAGGGAGATGGCCCGCTCTGCCCTGGTATAACCCAAACCTCAGGGCTGAGGCCAGAGATGTGGGTTGAGCCCTTCTTGCTAACTAGTTTTTAGCTGAGACTGGATTTGTATGGCCGGGGTTGGGGACAGACAACAGGACATGCAGGCTTTTTCTTTTGACCTCCTGGGTTTTCTGCCTGGCACTGCAATTGGGAGGGAGGCAGTGAGGAGCCACAACTGAAAGAGGGGTGTGGAGATCCCCAAAGCTCTGTTGCAGACACAGCGGGTGCCTGCGAAAACTTTAGTGATGCCAGAAAACCGTCCTGGATGAGGCTGCAGAGCGGGTAGGCTGCTTAGGTGGTTTGGTGCTCAGAGAGGGCTGTGTATGCCCAAGCCTCCAGGGAAGGAAAAGCTGGGCTGCCGGCGCCTCGTGGTGAGTGCAACCTACCTGTTCTGCCCAGGGATTGTCCCCAGTCCAGGGCCTAGTGGAAAGCAGCGCAGCCCAACTGTTTAACTGAGGCCTGGAAACAGTGCAGGCCAGAGCCCTAGAGAGGGCATCGGATTCTACCCCAAAAGGCTCTGGCTGTGCCTGGTGGTCTGGGGGCTGAGCCTGAGCTGCTTTTTGCACCTAGCTCTTTCTTCCGGCTGAGGGATCTTTGGGTAGGGATTGGAGTCCATTCAGAGGTTCAGCTGTTTTGCTGGTCCCAGAGTGCAGCTGAGGCCTTCCTCTCAGTAGGAAGCACCCCAGATTTAGGCACACTGCCGTAGGTCGGCTTTGTGCTGTGCTCTGAACTAATATGATTCTAGTTCCGGGAGAGGGAGACGCCAGTCCGTTCAGTCACAGCCCAAGCATAGAGCAGCACAAATTGAATGGGGAAAATAGTTTGGGGTAGATGTGGCTGTGGGCTCTGGGCTGGCTAGAGGAGCCCCTCTGTAGGGTGCACCAGCCTCTAGCCCCCTCCCCACCACGCCCTGCACCCCTGGCCTCACTCTGCTTGCCTGATCCCGAGCTCTGGCAGTGCCACTTACACCCAGCTCAGCCACCAGCCTTTACGACAACACATGGGGGAAGGGGGCCCAGGAAACTAAAACCGGCCTCCAAATCATTTGCACAGCTTAAAAAAAAGAAAAAAACTTGTTAATATATTGAAAAGACTTATGAATCGCGTGTACATATTCTGCCCTCCCCCCACTCCCCATAATTATTTACGGAGCTTCTCTTTAAAAAAAAAAAGGAAAGGATAACCCCTGGTTCTTCAGGCACAGAATGGTAAAGTCACGAAATTTCAGCTGGATGTTGCCTTAGAGATGAGCGGCTCACCNN | pathogenic | 150,000 |
Considering the variant on chromosome 9, location 126693802, involving gene LMX1B (LIM homeobox transcription factor 1 beta), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | AGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCTCTCAGCTGGTCTCCCCCACACCGACCTCTCTCCCTGCCTCTTGGCCCCACGTGCTGCACCCTCACTTACCCGGCGGTCTGTCTCCTCCATGCCTTTGCCGCCCCTCAGCCTGGCTTGCCTCCCCTGCTCTGGCCTGTTGAGCCCCTGCTAGTTCTTTAAGTCACATCAGGGCGGGGGCCCTTTCCTCCAGGAAGTCTTCCCGGGGCCTTTTTGGCCTGGGTCTGGGACCTTGGTGCTCCCAGATGCAGCGCAGAATCACTATTGCCTGTGTGGGGTCTGCCGCCTCCCTGGATCCCCTGGAGGGGCGGGGTGGTGGGAGGAAAGAAGATGAGGAGGGGAGGACTCTGGCTTTTGGTAAGCTGAGCCTGGAGGAGGAGCTGGAGTGTGCACCTGGGGAAGGGGCTGGGGAGTCAGTGTCTGGACAGCTTCAGCCAGAGTGGGGTGCCTGGGGAGTCCCAAGGAGATCAGAAGGGGAGGCTGCTGGGGTGTAGCTGGGAGGGCGTGGACCAGGCCAGGGGGTGAAGGCTCACTGTGCCCCCAGAGGTCCTGTCC | AGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCTCTCAGCTGGTCTCCCCCACACCGACCTCTCTCCCTGCCTCTTGGCCCCACGTGCTGCACCCTCACTTACCCGGCGGTCTGTCTCCTCCATGCCTTTGCCGCCCCTCAGCCTGGCTTGCCTCCCCTGCTCTGGCCTGTTGAGCCCCTGCTAGTTCTTTAAGTCACATCAGGGCGGGGGCCCTTTCCTCCAGGAAGTCTTCCCGGGGCCTTTTTGGCCTGGGTCTGGGACCTTGGTGCTCCCAGATGCAGCGCAGAATCACTATTGCCTGTGTGGGGTCTGCCGCCTCCCTGGATCCCCTGGAGGGGCGGGGTGGTGGGAGGAAAGAAGATGAGGAGGGGAGGACTCTGGCTTTTGGTAAGCTGAGCCTGGAGGAGGAGCTGGAGTGTGCACCTGGGGAAGGGGCTGGGGAGTCAGTGTCTGGACAGCTTCAGCCAGAGTGGGGTGCCTGGGGAGTCCCAAGGAGATCAGAAGGGGAGGCTGCTGGGGTGTAGCTGGGAGGGCGTGGACCAGGCCAGGGGGTGAAGGCTCACTGTGCCCCCAGAGGTCCTGTCCNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | benign | 150,044 |
Variant on chromosome 9, at position 127479961, affecting LRSAM1 (leucine rich repeat and sterile alpha motif containing 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCATTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAGAAGAACCTAACTCTTGTGTATATGTGTATTGCTGTTTAATTACATCAATAATAAATTAATTAATTAAACACCAATAATTACATTACATTATTGATGTTTAATACCTGCTCCTTGTTATAAATTTAAACAATACAGACAATTACAAACCAAGTGAATGTCAACCCTTCCACCCTGCACTCCCGTTGCCTGGAGGTAGTCATCATTAACTGATTAATGACTGTCCTTCTTGACCTTTGACTCAATACCTTCACACATATGCTCAGAGTTGAGTTTTCTTGATGATGTTTTTGCAAAAGTAGAATCATGCTACACACAGGTGAGGGATCTCACACATTCGCCCCATTGGCGGTTGTGTAATAGTCCACTGTATGGATGCACCATGACTTACGGACAGATGTTGATAGATGTATGAGTTATTTCCAGTGTTTTTGCTCTTTTGAATAATTCTGCAGGAAGTTGTACCCACACCTTTGTGCACTGTGAGTATTTTGGTGGACTGGAACCGGGTGCTGTAGGTGTGTTACGCAGACATCCATGGGCATCAGATATCCCATTTCCTGCTCTGCTCTTCAGACCACCATCCCTGCTCAGGGCTGCATCCCAGAACTGTCTTGAAGAGCCCCTCCTACAGTGCCATGCACACAGTGACAGCCCAGGGGTTCTCATCAGGTGTCCACTGGAACCACCTGGTGCCCTTGATCAATACGGATCCCCTCATCCCCCGACCCCACCATTCTGAGGCAGTGGTCTGGGGTGGGCCAGAGTTTGTATAACATCAGGCCACCCGGGGGTTCCTGGTGCCCATGCCAGGGAGAACCACTGCTGCCACCCTCTCTTGACCACTGTCTTTTTTTCCTCCCAGAACAGGTTCTCAGACTATGAGAAGAGGAAGGTAAGAAAATGCCTTTACCCTTCTGTCACTCTTTTCTCATTAAAGATCTCAACTCAACTCATAAAATATTTGAGAAAATGACTTCTTCCCAGCTCAGAATTAGAGGTCACAGTAATGCCTTCCTCTTACACGCAGTCTGCTGCATCCTCACATGCCTCAGGTGGGTGGTAGAGCATCCATGGGACAGGTGCAGAGACTGAGGCTCAGAGGGGTTGAGCCCAGCACCGGGCTCTAGACCACTAGCCTCTTCCTGTGAACAGCTTGTTTTCTTACAGTTGGGCCCTGGAGGGGAGTGGGGGTTGCTCAGCATGAAGACCTGGAGCCTGCCCTGTCAGTGTTGAGGGGTGGATTCTCCCGACTTCTGTGTCCTAACTCCCCCAGGGCCTGTGCTGACAGTCACCAGGATCTGTGTCTTGCAGGAACAGAAGATGCTGGAGAAACTCGAGTTTGAACGGCGCCTGGAACTGGGGCAGCGGGAGCACACCCAGCTCCTTCAGCAGAGCAGCAGCCAGAAGGATGAGATCCTTCAGACGGTCAAGGAGGTTTGTGAGCCGCCTGCTAGGGTCCAGCCTGGCTGCATCCCCCAGCCAGTGGCCTCCTGGCTTGGGCCAAGGTCCCTCGGATGTGGAAAGGCAGTGGGATGAAGCTGTCACTTCCTTCTGTCCCCCAGCACCTGGGAGGGCCCTTACAGATCACCCAGCCCAGCCTCCCCGTGTGCAGATGGACACTGTAGCCTACTGGGAGGAGCTGGCCGGAGGTCACACAAAAAGGATTGGCAAGGCAGGGTGGGAAAGCCAGCCTCCTAACCCCAGTCAGTACCCCTCACGGCGTCTGAGGGGGTCCCAGGGGCTCAGGACCCCTACCTCCGGCTGCAGGAGCAGTCCCGGCTGGAGCAGGGCCTGAGTGAGCACCAGCGCCACCTCAACGCAGAGCGGCAGCGGCTGCAGGAGCAGCTGAAGCAGACGGAACAGAACATTTCCAGCCGGATCCAGAAGCTGCTGCAGGACAATCAGAGGTTGGGCTCTGCTCCTCGGCCCCAGCCCCAGAGTCCTTCCCCGTGCAGTCCCCTGAGGAGCCGGGAGGAGTGTGTTTCTCCCTCACTGCCTCTGCCCCTGCCCCGGGCTTCCCTTGTCAGGATCCAGTCTGGGTGCTTCAACTGGCACCAGCGTAGAGAGAAAAGAATCTGACCCAGTCATTACAAAGTCTGGTTTCTTAGCATGAGACTGCTACCAGATTGGACCTGTGGCCTCGGGCAAATGTTTCCCCACTGGGCCCCAAGCTTCCCATCTATAAAGTGAGTGGGTTTGACAAGATAGTTGGGATCACATCCTGCTCCAGTATTTTGGGTTCTGCGTAACCCGTTGCACTGAGGTCAGCTGTTCACCTGTAGTGAGATTTGCCTTAACAAACCCTGTGCAAGGTACGAGCTAGTAAGAGCAGATCTTGATGGGGCTGGGGAGACATGGCGCCAGAAAAGCCTGAGAAGTCTAGTGAGGGGGCCCATTGCAGGATGATTCCAGAAACAGGCTCCAGCCATATGCCCTGCCACTTCCAGGCCTCTTTTTTCTAACCCTGAATCACTCGTTCCTCCCTCACCTGTCAGTTTCAAAAGTACCTGCATGAGTTCAGGAAACCAGTCATTTGTTGGATGCTTCTTATGTGCCAAGCTTGTTACATCTATTTCTTCATTAAGTCTTTACAAATGCACCAAGAAGCTGGGTTGTTTTCATTTTGTTTTGTTTGAGACAGAGTCTCGCTGTGTCACTGAGGCTGGAGTGCAGTGGTGTGCTCTCGGCTCACTGCAACCTCCTTCTCCCAGGTTCAAGCAATTCTCTTGCCTCAGCCTCCCAAGGAGCTGGGACTACAGGCTTGGGCCACCACGCCTGGCTAATTTTTGTAGAGATAAGGTTTCTCCATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTATCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGTCTGGCTGGGTTTTTTTATTCTTCTAATTTCATAGGTGAGGAAACCTGGGACTTGAGTGGTTTCAGTAACTGGCTAAGAACCCAGAGCTTCAAGGTGGTGGAGCCAAGGTGCCCCCAGCCCATTTCCTAAGCCCCTCTGCACAGCTAACGCAGTGAGACAGGAAACAGGCCTGCTGGTGACTGCCAGGACCTTTTATGATTTTCTCCACAGACAAAAGAAAAGCTCCGAGATTTTGAAATCGCTGGAAAATGAAAGGTAAGTGTTCTTCCAGGGGAGGGCAGCATTTTTTTTTTTTTTTTGAGACGGAGTCCTGCACTGTCGCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCAGTGCAACCCCCGCCGCCCAGGTCCAAGCAATTCCCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCATACCACCACCAGCTAATTTTTTGTATTTTAGTAGAGACGGGGTTTCACCGTGTTAACCAGGATGGTTTCGATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCACAAAGTACTGGGATTGCAGGCGTGAGCCACTGCTCCCGGCCAAGGAGAGCAGCTTTGAGGGGAGAATGTCTTGTGATTCTCCAGAGGATTATGCCAGGACATTTCCCTAAAGCTATAAGGAGATTCACCTCCTTAGACGATATTTAATTACAAAGAATCATTGTCTTCAAGTTCATTAAAACATACGTACACTCCTGAAAAACATTCAGAGACATGAATAAGGCTAGATATATAATGTCCAACTATATTCCTAGTATAAAAAGTTCAGGCCAGGCGCAGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCATCCTGGCCAACATGGCAAAACGCTGTCTCTACTAAAAATCAAAACTTAGCCAGGAGTGGTGGCAGGCGCCTATGGTTCCAGCTAAAAAAAAAAAGAAATTCAGAAAAAAAATCTAAATTTCTGGAAAGAAAAATTATTTAGTTACATA | GTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCATTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAGAAGAACCTAACTCTTGTGTATATGTGTATTGCTGTTTAATTACATCAATAATAAATTAATTAATTAAACACCAATAATTACATTACATTATTGATGTTTAATACCTGCTCCTTGTTATAAATTTAAACAATACAGACAATTACAAACCAAGTGAATGTCAACCCTTCCACCCTGCACTCCCGTTGCCTGGAGGTAGTCATCATTAACTGATTAATGACTGTCCTTCTTGACCTTTGACTCAATACCTTCACACATATGCTCAGAGTTGAGTTTTCTTGATGATGTTTTTGCAAAAGTAGAATCATGCTACACACAGGTGAGGGATCTCACACATTCGCCCCATTGGCGGTTGTGTAATAGTCCACTGTATGGATGCACCATGACTTACGGACAGATGTTGATAGATGTATGAGTTATTTCCAGTGTTTTTGCTCTTTTGAATAATTCTGCAGGAAGTTGTACCCACACCTTTGTGCACTGTGAGTATTTTGGTGGACTGGAACCGGGTGCTGTAGGTGTGTTACGCAGACATCCATGGGCATCAGATATCCCATTTCCTGCTCTGCTCTTCAGACCACCATCCCTGCTCAGGGCTGCATCCCAGAACTGTCTTGAAGAGCCCCTCCTACAGTGCCATGCACACAGTGACAGCCCAGGGGTTCTCATCAGGTGTCCACTGGAACCACCTGGTGCCCTTGATCAATACGGATCCCCTCATCCCCCGACCCCACCATTCTGAGGCAGTGGTCTGGGGTGGGCCAGAGTTTGTATAACATCAGGCCACCCGGGGGTTCCTGGTGCCCATGCCAGGGAGAACCACTGCTGCCACCCTCTCTTGACCACTGTCTTTTTTTCCTCCCAGAACAGGTTCTCAGACTATGAGAAGAGGAAGGTAAGAAAATGCCTTTACCCTTCTGTCACTCTTTTCTCATTAAAGATCTCAACTCAACTCATAAAATATTTGAGAAAATGACTTCTTCCCAGCTCAGAATTAGAGGTCACAGTAATGCCTTCCTCTTACACGCAGTCTGCTGCATCCTCACATGCCTCAGGTGGGTGGTAGAGCATCCATGGGACAGGTGCAGAGACTGAGGCTCAGAGGGGTTGAGCCCAGCACCGGGCTCTAGACCACTAGCCTCTTCCTGTGAACAGCTTGTTTTCTTACAGTTGGGCCCTGGAGGGGAGTGGGGGTTGCTCAGCATGAAGACCTGGAGCCTGCCCTGTCAGTGTTGAGGGGTGGATTCTCCCGACTTCTGTGTCCTAACTCCCCCAGGGCCTGTGCTGACAGTCACCAGGATCTGTGTCTTGCAGGAACAGAAGATGCTGGAGAAACTCGAGTTTGAACGGCGCCTGGAACTGGGGCAGCGGGAGCACACCCAGCTCCTTCAGCAGAGCAGCAGCCAGAAGGATGAGATCCTTCAGACGGTCAAGGAGGTTTGTGAGCCGCCTGCTAGGGTCCAGCCTGGCTGCATCCCCCAGCCAGTGGCCTCCTGGCTTGGGCCAAGGTCCCTCGGATGTGGAAAGGCAGTGGGATGAAGCTGTCACTTCCTTCTGTCCCCCAGCACCTGGGAGGGCCCTTACAGATCACCCAGCCCAGCCTCCCCGTGTGCAGATGGACACTGTAGCCTACTGGGAGGAGCTGGCCGGAGGTCACACAAAAAGGATTGGCAAGGCAGGGTGGGAAAGCCAGCCTCCTAACCCCAGTCAGTACCCCTCACGGCGTCTGAGGGGGTCCCAGGGGCTCAGGACCCCTACCTCCGGCTGCAGGAGCAGTCCCGGCTGGAGCAGGGCCTGAGTGAGCACCAGCGCCACCTCAACGCAGAGCGGCAGCGGCTGCAGGAGCAGCTGAAGCAGACGGAACAGAACATTTCCAGCCGGATCCAGAAGCTTTTGCAGGACAATCAGAGGTTGGGCTCTGCTCCTCGGCCCCAGCCCCAGAGTCCTTCCCCGTGCAGTCCCCTGAGGAGCCGGGAGGAGTGTGTTTCTCCCTCACTGCCTCTGCCCCTGCCCCGGGCTTCCCTTGTCAGGATCCAGTCTGGGTGCTTCAACTGGCACCAGCGTAGAGAGAAAAGAATCTGACCCAGTCATTACAAAGTCTGGTTTCTTAGCATGAGACTGCTACCAGATTGGACCTGTGGCCTCGGGCAAATGTTTCCCCACTGGGCCCCAAGCTTCCCATCTATAAAGTGAGTGGGTTTGACAAGATAGTTGGGATCACATCCTGCTCCAGTATTTTGGGTTCTGCGTAACCCGTTGCACTGAGGTCAGCTGTTCACCTGTAGTGAGATTTGCCTTAACAAACCCTGTGCAAGGTACGAGCTAGTAAGAGCAGATCTTGATGGGGCTGGGGAGACATGGCGCCAGAAAAGCCTGAGAAGTCTAGTGAGGGGGCCCATTGCAGGATGATTCCAGAAACAGGCTCCAGCCATATGCCCTGCCACTTCCAGGCCTCTTTTTTCTAACCCTGAATCACTCGTTCCTCCCTCACCTGTCAGTTTCAAAAGTACCTGCATGAGTTCAGGAAACCAGTCATTTGTTGGATGCTTCTTATGTGCCAAGCTTGTTACATCTATTTCTTCATTAAGTCTTTACAAATGCACCAAGAAGCTGGGTTGTTTTCATTTTGTTTTGTTTGAGACAGAGTCTCGCTGTGTCACTGAGGCTGGAGTGCAGTGGTGTGCTCTCGGCTCACTGCAACCTCCTTCTCCCAGGTTCAAGCAATTCTCTTGCCTCAGCCTCCCAAGGAGCTGGGACTACAGGCTTGGGCCACCACGCCTGGCTAATTTTTGTAGAGATAAGGTTTCTCCATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTATCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGTCTGGCTGGGTTTTTTTATTCTTCTAATTTCATAGGTGAGGAAACCTGGGACTTGAGTGGTTTCAGTAACTGGCTAAGAACCCAGAGCTTCAAGGTGGTGGAGCCAAGGTGCCCCCAGCCCATTTCCTAAGCCCCTCTGCACAGCTAACGCAGTGAGACAGGAAACAGGCCTGCTGGTGACTGCCAGGACCTTTTATGATTTTCTCCACAGACAAAAGAAAAGCTCCGAGATTTTGAAATCGCTGGAAAATGAAAGGTAAGTGTTCTTCCAGGGGAGGGCAGCATTTTTTTTTTTTTTTTGAGACGGAGTCCTGCACTGTCGCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCAGTGCAACCCCCGCCGCCCAGGTCCAAGCAATTCCCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCATACCACCACCAGCTAATTTTTTGTATTTTAGTAGAGACGGGGTTTCACCGTGTTAACCAGGATGGTTTCGATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCACAAAGTACTGGGATTGCAGGCGTGAGCCACTGCTCCCGGCCAAGGAGAGCAGCTTTGAGGGGAGAATGTCTTGTGATTCTCCAGAGGATTATGCCAGGACATTTCCCTAAAGCTATAAGGAGATTCACCTCCTTAGACGATATTTAATTACAAAGAATCATTGTCTTCAAGTTCATTAAAACATACGTACACTCCTGAAAAACATTCAGAGACATGAATAAGGCTAGATATATAATGTCCAACTATATTCCTAGTATAAAAAGTTCAGGCCAGGCGCAGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCATCCTGGCCAACATGGCAAAACGCTGTCTCTACTAAAAATCAAAACTTAGCCAGGAGTGGTGGCAGGCGCCTATGGTTCCAGCTAAAAAAAAAAAGAAATTCAGAAAAAAAATCTAAATTTCTGGAAAGAAAAATTATTTAGTTACATA | benign | 150,153 |
Considering the variant on chromosome 9, location 127495413, involving gene LRSAM1 (leucine rich repeat and sterile alpha motif containing 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2P', 'Charcot-Marie-Tooth_disease_axonal_type_2P-AR', 'Inborn_genetic_diseases'] | CCTGCGGTTTTGATGCATATTTTCCAAACATTGTGATGCACCTTTATAGCTGTTCGTGTATGCGCCTTTTAAACGTGGCATGCTGCATACCCTTTTCGAGCAGCCTGTTTCCGCACATTCTTTTCAAGTCATTAAACTATTCCTTGACGTCCTTTCTCAAGGCTGTCCGTGGCCCCTATTGTTGAGTATGTGGATTACTTCTGGTTTTTAAACTTTTCTAGGCAATGCTCTCCGAATGCCTTTGTAGTCGAGTATTCGGGAACAGCCATGAGTATTCACTCCAGACAGGACTCACTATGTCCAGGGCAGGCCGTTTGATAAGCTTTTGGCAGGAGTGGCCCAGCTGTCCCTGTCCCCTGATGGGTTTGACACTGGCACATTTTCAGCGTGGCAGAGGCCCCCTTGAGAGTGTCTCCTCTAGACCCAGAGGGCACCCAAGCAATGAGGACAGAGGCCAGGCTCACCATCTGGGGTGGAAAAGACCGAGTCGTTCCTGTGTCCCCGTGAATGCACCAGATGCCCTCTGAGCTGCGTCCTAGGCCGGGTCCTGTGCAGGTTTAGAAGAGAGAGACCAGCTGCTTCTGGAGCCCTGAACAAGCCAAGTGGTGCCTGTGCCCATCAGAGGAAGCTGCCTGTTCCTCACGGTGCCCTACTGCCATCTCCTACGCATCAGGTTACTTTGCAGATGGTGCCTTGGCGCTGTGCCTTAGCAGCCAGGTACTATGGCTGGTGCCCCTGCCCTTGTAGGCCTTGGGGGTCACCACCAAAGGAGGAAGCACCGCCCCAGCAGAACACAGCCCATCCGGCTCCTGGGCGCTGGAAGAGAGGGGCTGCAGCCCGGGAGGGCCAACGACGGAAGGGAGCAGTGGGCGTGGCCAGGTCCAGGAGGGGCCCGCAAAGGGCAGTCAGGCCCAGCAGGGATTGAGAAACGCCTGTGTTGATCCCACTCCCCATGTCATGCCAGCCCTCACTGAACAGCTCCGTTGTTCTGAGCACGGGCTCTGGAGCAAGACAGGCCTGGGTCCAATTCCTGGCCCCACCCTGGGCAGGTTACTCATCACCCTGAACCTCAGCTCCCTCACCTGGGAGGTAGAATCTCCTTCCCGGAGTTGTGAGAATTAATGATGGCATCGTTAGGTGCACAGCATGGTCTGGCACATGGCACTGTGAACATGTCAGCTACGCCTGTTGTCACCGTGGCTGTTATCAGCATTGTTTGTTCACTGCTGTATTCCCAGCACCTAGAACAGTACTCAACGAAGAGTTATCGAATGGCAGAATAAAAGAATCACATTCAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAAACCCCATCTGTACTAAAAATATAAAAATTAGCCGGGCATGGTGGCACACACCTGTAGTCCCAGCTACTCGGGCACTCCAGCCTGGGTGACAGAGCAAGAGTCCATCTCAAAAATAAAATAAAAGTACCAAGTGCTGTCCACCCGCTCAGAGGAGCATGGTTCATAACCATCATTTTGGTTTTGTTTTGTTTTGTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGCTCAAGAGATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCATGTGCCGCCATGCCTGGCTAGTTTTGTATTTTTAGTAGAGGTGGGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCCACCTTGGCCCCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCAACCATCATTGTTATTACAGGTTTTATTACCATTTTGTGACTAACATTGCCTGCTTCATTCCTGGCAGACGGAGTTAGAAGCCAAAAGTGAAACCAGGCAGGAAAATTACTGGCTGATTCAGTATCAACGGCTTTTGAACCAGAAGCCCTTGTCCTTGAAGCTGCAAGTAAGGACTGCTGGTGCCTGTCCCGGCCAGGGAGCCCTGGGGACCTCCTCCCAGAGGCGCCTGTGGTGCCTCCACCATGCTCTGCCTCTTGTTACTTTTCTGGTGACTCTAGCATGCCAGATCCTGTGCCAAGCCCCAGTGGAGACAGAAGCGAGAGTAAGGGAGTGTTCATTCTGGTGAGGGGGACGACAAGGCACTGGTCACTGCTGTGCAGGGCAGAGACCACTGAGCCCACAGTAGAGCAAAGCCTGTGCCGGGAGCCACTGTCTGTCCAGCACCTGCGGGGACAGAGAGGCAGTTGAAACAGCCCCCTCTTGGTGGATGTTCAAGTTGCTTACTATTTTCAGGTTTGCAGACAGAGCGGCAGTGAACCCCTGGGCCTATCTATCTATCTATCTCTGTGTGCCTACCTATGAGTTTTTGTAGGAAAAATCCCGAGTACATTCTATGTATTATGTTATAAATATTCAAACCCTTCATTTCCTGTTGTAAACAGTGGGTTCTTTTCTTCCTTCCTGCTCATGGTACACGTTTCTGTCTTGCAGGAAGAGGGGATGGAGCGCCAGCTGGTGGCCCTCCTGGAGGAGCTGTCGGCTGAGCACTACCTGCCCATCTTTGCGCACCACCGCCTCTCACTGGACCTGCTGAGCCAAATGAGCCCAGGGGACCTGGCCAAGGTGGGCAGCAGCCGTCTGCATGGAGGGGAGGGGCACGCAAGGCCGCTGTCCTGACCAGCCGGGGGTTGATCTGCTCCTTGTGTAGTCCTCGTTGAGGCCTGTCCTTACCTAATGGCCCAGGGCCACCTTGCTTCCAGATGGCCAGAACACCTGCCCATCTGCCCCAGCCGCCTGTGTGTGCCCTGCACACTGTCTCACTGGGAAATCCTGGGGAGGTGGGTCCTGCTGACCTGATCAGACTGGATCTTCAGACTGGAGGGACAAGACAGGCCCTTGGGGCTTATCTGATCCAGCCTCTGCCCTGCCTCATGGTGTCACAAACTGTCGTGGCCACAGCACTGCCTGAGCCCCTGTTCCTTTCTGGGCACAAGCTGAGCTCTTTACAGCACATTAATCCACTTATTCTTCAAAACAGAATACTCATCGCTGTGCCAGCTAACTTTGTAGCACCTGCACGTGCGGGGCACCATTTTAAGCACTTTTTGTATTCGAACTCACTGAATTCTCCCGACAGCCCAGCAGGGTACATATCATTATCATCATCTTTCAGTTGAGACCCAGTAAGGCAATAACTTGGCCCAAGGTCACACAGCAGAGTGAGGTCTCCACCCCAAGCAGTGTGGCCCCAGAGTTCGTGTTCTTTTTCATGAGACTCTCCTGCCCCTCCCTGGACAGATGCAGACACCAGGGTCCAAGAGGACTGGATGGCACTGAGGGTCACAAGGCCATGCCGCTCAGGCTCTGGAGGCTGAGGGACTGTGGGGCTCGTGTGCTGCTGCTGCTTAGTGGCTTGGCCTCCAAGGCTTCTCTCCTCCCCCACCTGGTGGGGAAGTGGCTGAGGTGTGCAGGTGAAGCCTGGCACCGGGAAGCAGTTGCTAAACCATAGCTGTTGCTAGTGCTGGTTTCCCTTTGGGCCTCAGTTTCCCCCCAACCCCTGCCACACTGATTGTTGGGCTGAGGCCTGGGGAGGTTGCCCTCACAGCTATGGTGCCGCACTGCCTCATCCTGACCGTGGGCCCCGCCAGGCCCCGGAAGGCTTCCACATTTCCAGCAGGAGGTGTCGACGGTCCTGTGAGCCTGGGCCTGTGCCACGTGGCTCACACCATTTAGCGGGCTCCCGCCCAGGCCACAGTCTGCACTTCCTTGAACTGTCACAGGTGGGCGTCTCAGAAGCTGGCCTGCAGCACGAGATCCTCCGGAGAGTCCAGGAACTGCTGGATGCAGCCAGGATCCAGCCAGGTACAAGCACAGCTCCAGCCTCTTCCAGGCAGGGCTCCAGCCGTATGTGTGGGCTCTGGTGGGGACAGTCATTTGCTTACATTTCAGGATGACTCCTGAGGGCTGGTTCTAGCCTCTGCTGGTCGG | CCTGCGGTTTTGATGCATATTTTCCAAACATTGTGATGCACCTTTATAGCTGTTCGTGTATGCGCCTTTTAAACGTGGCATGCTGCATACCCTTTTCGAGCAGCCTGTTTCCGCACATTCTTTTCAAGTCATTAAACTATTCCTTGACGTCCTTTCTCAAGGCTGTCCGTGGCCCCTATTGTTGAGTATGTGGATTACTTCTGGTTTTTAAACTTTTCTAGGCAATGCTCTCCGAATGCCTTTGTAGTCGAGTATTCGGGAACAGCCATGAGTATTCACTCCAGACAGGACTCACTATGTCCAGGGCAGGCCGTTTGATAAGCTTTTGGCAGGAGTGGCCCAGCTGTCCCTGTCCCCTGATGGGTTTGACACTGGCACATTTTCAGCGTGGCAGAGGCCCCCTTGAGAGTGTCTCCTCTAGACCCAGAGGGCACCCAAGCAATGAGGACAGAGGCCAGGCTCACCATCTGGGGTGGAAAAGACCGAGTCGTTCCTGTGTCCCCGTGAATGCACCAGATGCCCTCTGAGCTGCGTCCTAGGCCGGGTCCTGTGCAGGTTTAGAAGAGAGAGACCAGCTGCTTCTGGAGCCCTGAACAAGCCAAGTGGTGCCTGTGCCCATCAGAGGAAGCTGCCTGTTCCTCACGGTGCCCTACTGCCATCTCCTACGCATCAGGTTACTTTGCAGATGGTGCCTTGGCGCTGTGCCTTAGCAGCCAGGTACTATGGCTGGTGCCCCTGCCCTTGTAGGCCTTGGGGGTCACCACCAAAGGAGGAAGCACCGCCCCAGCAGAACACAGCCCATCCGGCTCCTGGGCGCTGGAAGAGAGGGGCTGCAGCCCGGGAGGGCCAACGACGGAAGGGAGCAGTGGGCGTGGCCAGGTCCAGGAGGGGCCCGCAAAGGGCAGTCAGGCCCAGCAGGGATTGAGAAACGCCTGTGTTGATCCCACTCCCCATGTCATGCCAGCCCTCACTGAACAGCTCCGTTGTTCTGAGCACGGGCTCTGGAGCAAGACAGGCCTGGGTCCAATTCCTGGCCCCACCCTGGGCAGGTTACTCATCACCCTGAACCTCAGCTCCCTCACCTGGGAGGTAGAATCTCCTTCCCGGAGTTGTGAGAATTAATGATGGCATCGTTAGGTGCACAGCATGGTCTGGCACATGGCACTGTGAACATGTCAGCTACGCCTGTTGTCACCGTGGCTGTTATCAGCATTGTTTGTTCACTGCTGTATTCCCAGCACCTAGAACAGTACTCAACGAAGAGTTATCGAATGGCAGAATAAAAGAATCACATTCAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAAACCCCATCTGTACTAAAAATATAAAAATTAGCCGGGCATGGTGGCACACACCTGTAGTCCCAGCTACTCGGGCACTCCAGCCTGGGTGACAGAGCAAGAGTCCATCTCAAAAATAAAATAAAAGTACCAAGTGCTGTCCACCCGCTCAGAGGAGCATGGTTCATAACCATCATTTTGGTTTTGTTTTGTTTTGTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGCTCAAGAGATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCATGTGCCGCCATGCCTGGCTAGTTTTGTATTTTTAGTAGAGGTGGGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCCACCTTGGCCCCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCAACCATCATTGTTATTACAGGTTTTATTACCATTTTGTGACTAACATTGCCTGCTTCATTCCTGGCAGACGGAGTTAGAAGCCAAAAGTGAAACCAGGCAGGAAAATTACTGGCTGATTCAGTATCAACGGCTTTTGAACCAGAAGCCCTTGTCCTTGAAGCGCAAGTAAGGACTGCTGGTGCCTGTCCCGGCCAGGGAGCCCTGGGGACCTCCTCCCAGAGGCGCCTGTGGTGCCTCCACCATGCTCTGCCTCTTGTTACTTTTCTGGTGACTCTAGCATGCCAGATCCTGTGCCAAGCCCCAGTGGAGACAGAAGCGAGAGTAAGGGAGTGTTCATTCTGGTGAGGGGGACGACAAGGCACTGGTCACTGCTGTGCAGGGCAGAGACCACTGAGCCCACAGTAGAGCAAAGCCTGTGCCGGGAGCCACTGTCTGTCCAGCACCTGCGGGGACAGAGAGGCAGTTGAAACAGCCCCCTCTTGGTGGATGTTCAAGTTGCTTACTATTTTCAGGTTTGCAGACAGAGCGGCAGTGAACCCCTGGGCCTATCTATCTATCTATCTCTGTGTGCCTACCTATGAGTTTTTGTAGGAAAAATCCCGAGTACATTCTATGTATTATGTTATAAATATTCAAACCCTTCATTTCCTGTTGTAAACAGTGGGTTCTTTTCTTCCTTCCTGCTCATGGTACACGTTTCTGTCTTGCAGGAAGAGGGGATGGAGCGCCAGCTGGTGGCCCTCCTGGAGGAGCTGTCGGCTGAGCACTACCTGCCCATCTTTGCGCACCACCGCCTCTCACTGGACCTGCTGAGCCAAATGAGCCCAGGGGACCTGGCCAAGGTGGGCAGCAGCCGTCTGCATGGAGGGGAGGGGCACGCAAGGCCGCTGTCCTGACCAGCCGGGGGTTGATCTGCTCCTTGTGTAGTCCTCGTTGAGGCCTGTCCTTACCTAATGGCCCAGGGCCACCTTGCTTCCAGATGGCCAGAACACCTGCCCATCTGCCCCAGCCGCCTGTGTGTGCCCTGCACACTGTCTCACTGGGAAATCCTGGGGAGGTGGGTCCTGCTGACCTGATCAGACTGGATCTTCAGACTGGAGGGACAAGACAGGCCCTTGGGGCTTATCTGATCCAGCCTCTGCCCTGCCTCATGGTGTCACAAACTGTCGTGGCCACAGCACTGCCTGAGCCCCTGTTCCTTTCTGGGCACAAGCTGAGCTCTTTACAGCACATTAATCCACTTATTCTTCAAAACAGAATACTCATCGCTGTGCCAGCTAACTTTGTAGCACCTGCACGTGCGGGGCACCATTTTAAGCACTTTTTGTATTCGAACTCACTGAATTCTCCCGACAGCCCAGCAGGGTACATATCATTATCATCATCTTTCAGTTGAGACCCAGTAAGGCAATAACTTGGCCCAAGGTCACACAGCAGAGTGAGGTCTCCACCCCAAGCAGTGTGGCCCCAGAGTTCGTGTTCTTTTTCATGAGACTCTCCTGCCCCTCCCTGGACAGATGCAGACACCAGGGTCCAAGAGGACTGGATGGCACTGAGGGTCACAAGGCCATGCCGCTCAGGCTCTGGAGGCTGAGGGACTGTGGGGCTCGTGTGCTGCTGCTGCTTAGTGGCTTGGCCTCCAAGGCTTCTCTCCTCCCCCACCTGGTGGGGAAGTGGCTGAGGTGTGCAGGTGAAGCCTGGCACCGGGAAGCAGTTGCTAAACCATAGCTGTTGCTAGTGCTGGTTTCCCTTTGGGCCTCAGTTTCCCCCCAACCCCTGCCACACTGATTGTTGGGCTGAGGCCTGGGGAGGTTGCCCTCACAGCTATGGTGCCGCACTGCCTCATCCTGACCGTGGGCCCCGCCAGGCCCCGGAAGGCTTCCACATTTCCAGCAGGAGGTGTCGACGGTCCTGTGAGCCTGGGCCTGTGCCACGTGGCTCACACCATTTAGCGGGCTCCCGCCCAGGCCACAGTCTGCACTTCCTTGAACTGTCACAGGTGGGCGTCTCAGAAGCTGGCCTGCAGCACGAGATCCTCCGGAGAGTCCAGGAACTGCTGGATGCAGCCAGGATCCAGCCAGGTACAAGCACAGCTCCAGCCTCTTCCAGGCAGGGCTCCAGCCGTATGTGTGGGCTCTGGTGGGGACAGTCATTTGCTTACATTTCAGGATGACTCCTGAGGGCTGGTTCTAGCCTCTGCTGGTCGGN | pathogenic | 150,179 |
The mutation impacting LRSAM1 (leucine rich repeat and sterile alpha motif containing 1) on chromosome 9 at position 127496079: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_axonal_type_2P'] | GCATCAGGTTACTTTGCAGATGGTGCCTTGGCGCTGTGCCTTAGCAGCCAGGTACTATGGCTGGTGCCCCTGCCCTTGTAGGCCTTGGGGGTCACCACCAAAGGAGGAAGCACCGCCCCAGCAGAACACAGCCCATCCGGCTCCTGGGCGCTGGAAGAGAGGGGCTGCAGCCCGGGAGGGCCAACGACGGAAGGGAGCAGTGGGCGTGGCCAGGTCCAGGAGGGGCCCGCAAAGGGCAGTCAGGCCCAGCAGGGATTGAGAAACGCCTGTGTTGATCCCACTCCCCATGTCATGCCAGCCCTCACTGAACAGCTCCGTTGTTCTGAGCACGGGCTCTGGAGCAAGACAGGCCTGGGTCCAATTCCTGGCCCCACCCTGGGCAGGTTACTCATCACCCTGAACCTCAGCTCCCTCACCTGGGAGGTAGAATCTCCTTCCCGGAGTTGTGAGAATTAATGATGGCATCGTTAGGTGCACAGCATGGTCTGGCACATGGCACTGTGAACATGTCAGCTACGCCTGTTGTCACCGTGGCTGTTATCAGCATTGTTTGTTCACTGCTGTATTCCCAGCACCTAGAACAGTACTCAACGAAGAGTTATCGAATGGCAGAATAAAAGAATCACATTCAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAAACCCCATCTGTACTAAAAATATAAAAATTAGCCGGGCATGGTGGCACACACCTGTAGTCCCAGCTACTCGGGCACTCCAGCCTGGGTGACAGAGCAAGAGTCCATCTCAAAAATAAAATAAAAGTACCAAGTGCTGTCCACCCGCTCAGAGGAGCATGGTTCATAACCATCATTTTGGTTTTGTTTTGTTTTGTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGCTCAAGAGATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCATGTGCCGCCATGCCTGGCTAGTTTTGTATTTTTAGTAGAGGTGGGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCCACCTTGGCCCCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCAACCATCATTGTTATTACAGGTTTTATTACCATTTTGTGACTAACATTGCCTGCTTCATTCCTGGCAGACGGAGTTAGAAGCCAAAAGTGAAACCAGGCAGGAAAATTACTGGCTGATTCAGTATCAACGGCTTTTGAACCAGAAGCCCTTGTCCTTGAAGCTGCAAGTAAGGACTGCTGGTGCCTGTCCCGGCCAGGGAGCCCTGGGGACCTCCTCCCAGAGGCGCCTGTGGTGCCTCCACCATGCTCTGCCTCTTGTTACTTTTCTGGTGACTCTAGCATGCCAGATCCTGTGCCAAGCCCCAGTGGAGACAGAAGCGAGAGTAAGGGAGTGTTCATTCTGGTGAGGGGGACGACAAGGCACTGGTCACTGCTGTGCAGGGCAGAGACCACTGAGCCCACAGTAGAGCAAAGCCTGTGCCGGGAGCCACTGTCTGTCCAGCACCTGCGGGGACAGAGAGGCAGTTGAAACAGCCCCCTCTTGGTGGATGTTCAAGTTGCTTACTATTTTCAGGTTTGCAGACAGAGCGGCAGTGAACCCCTGGGCCTATCTATCTATCTATCTCTGTGTGCCTACCTATGAGTTTTTGTAGGAAAAATCCCGAGTACATTCTATGTATTATGTTATAAATATTCAAACCCTTCATTTCCTGTTGTAAACAGTGGGTTCTTTTCTTCCTTCCTGCTCATGGTACACGTTTCTGTCTTGCAGGAAGAGGGGATGGAGCGCCAGCTGGTGGCCCTCCTGGAGGAGCTGTCGGCTGAGCACTACCTGCCCATCTTTGCGCACCACCGCCTCTCACTGGACCTGCTGAGCCAAATGAGCCCAGGGGACCTGGCCAAGGTGGGCAGCAGCCGTCTGCATGGAGGGGAGGGGCACGCAAGGCCGCTGTCCTGACCAGCCGGGGGTTGATCTGCTCCTTGTGTAGTCCTCGTTGAGGCCTGTCCTTACCTAATGGCCCAGGGCCACCTTGCTTCCAGATGGCCAGAACACCTGCCCATCTGCCCCAGCCGCCTGTGTGTGCCCTGCACACTGTCTCACTGGGAAATCCTGGGGAGGTGGGTCCTGCTGACCTGATCAGACTGGATCTTCAGACTGGAGGGACAAGACAGGCCCTTGGGGCTTATCTGATCCAGCCTCTGCCCTGCCTCATGGTGTCACAAACTGTCGTGGCCACAGCACTGCCTGAGCCCCTGTTCCTTTCTGGGCACAAGCTGAGCTCTTTACAGCACATTAATCCACTTATTCTTCAAAACAGAATACTCATCGCTGTGCCAGCTAACTTTGTAGCACCTGCACGTGCGGGGCACCATTTTAAGCACTTTTTGTATTCGAACTCACTGAATTCTCCCGACAGCCCAGCAGGGTACATATCATTATCATCATCTTTCAGTTGAGACCCAGTAAGGCAATAACTTGGCCCAAGGTCACACAGCAGAGTGAGGTCTCCACCCCAAGCAGTGTGGCCCCAGAGTTCGTGTTCTTTTTCATGAGACTCTCCTGCCCCTCCCTGGACAGATGCAGACACCAGGGTCCAAGAGGACTGGATGGCACTGAGGGTCACAAGGCCATGCCGCTCAGGCTCTGGAGGCTGAGGGACTGTGGGGCTCGTGTGCTGCTGCTGCTTAGTGGCTTGGCCTCCAAGGCTTCTCTCCTCCCCCACCTGGTGGGGAAGTGGCTGAGGTGTGCAGGTGAAGCCTGGCACCGGGAAGCAGTTGCTAAACCATAGCTGTTGCTAGTGCTGGTTTCCCTTTGGGCCTCAGTTTCCCCCCAACCCCTGCCACACTGATTGTTGGGCTGAGGCCTGGGGAGGTTGCCCTCACAGCTATGGTGCCGCACTGCCTCATCCTGACCGTGGGCCCCGCCAGGCCCCGGAAGGCTTCCACATTTCCAGCAGGAGGTGTCGACGGTCCTGTGAGCCTGGGCCTGTGCCACGTGGCTCACACCATTTAGCGGGCTCCCGCCCAGGCCACAGTCTGCACTTCCTTGAACTGTCACAGGTGGGCGTCTCAGAAGCTGGCCTGCAGCACGAGATCCTCCGGAGAGTCCAGGAACTGCTGGATGCAGCCAGGATCCAGCCAGGTACAAGCACAGCTCCAGCCTCTTCCAGGCAGGGCTCCAGCCGTATGTGTGGGCTCTGGTGGGGACAGTCATTTGCTTACATTTCAGGATGACTCCTGAGGGCTGGTTCTAGCCTCTGCTGGTCGGTAAGGTTTCCTCCCAAGGAGCAGGCTTAGGGATCAGTGAGCCCATTTTACAGATGGGAAAAATGGGCCACCAAATTGGGAGAACAGGAGACCTCCACGTAGCAGTGGAGGGGCCCTCCCAGCTCCCTGTCCCATAGCCTTCCCTCAGTCCACCCTACAGACGCTGGGATCCACACACTGAGGGACTTTGGACTAGAGGGAGAAATAGCCCGTCCCCAGGGCCTGCAGTATACCCAATGCTGGGCCTGAGGCATGCCTGTGGACATGGAGAGATGTCCACAACAGGCTGTGAAGGGGCAAAGGCAGGTCGTGAGGCCCGTGGGGAGAAGGGGCAGGTGTGGAGTCTGGGGTCTGCCATGTGCTGAGCATGATCTGGGAGCCCGGCACCTGCCCACCGCTGTGCATGAACCACGTTGAGGAACCTCCGGATCCATCCCGTGAGGAGGCACTGTTGTGGTCCTCATTTTCAAGATGGGGAAACTGAAGCGCAAAGAGGTTAGCATGTCCCCCATCAGGTCCCATTGCTGGCAGATGGTGGAGCCACTGGGCTTGCCTGCCTCCCTGGGGAAGAGGTGAGGGGCCAGAGCAGGGGTGAAGGAGAGGGCAGTCTTGTGCTGCTGGGCTGGGCGAGGCTCTGGACAGGGCATTTTTAGCCAGAGCCAAGGAA | GCATCAGGTTACTTTGCAGATGGTGCCTTGGCGCTGTGCCTTAGCAGCCAGGTACTATGGCTGGTGCCCCTGCCCTTGTAGGCCTTGGGGGTCACCACCAAAGGAGGAAGCACCGCCCCAGCAGAACACAGCCCATCCGGCTCCTGGGCGCTGGAAGAGAGGGGCTGCAGCCCGGGAGGGCCAACGACGGAAGGGAGCAGTGGGCGTGGCCAGGTCCAGGAGGGGCCCGCAAAGGGCAGTCAGGCCCAGCAGGGATTGAGAAACGCCTGTGTTGATCCCACTCCCCATGTCATGCCAGCCCTCACTGAACAGCTCCGTTGTTCTGAGCACGGGCTCTGGAGCAAGACAGGCCTGGGTCCAATTCCTGGCCCCACCCTGGGCAGGTTACTCATCACCCTGAACCTCAGCTCCCTCACCTGGGAGGTAGAATCTCCTTCCCGGAGTTGTGAGAATTAATGATGGCATCGTTAGGTGCACAGCATGGTCTGGCACATGGCACTGTGAACATGTCAGCTACGCCTGTTGTCACCGTGGCTGTTATCAGCATTGTTTGTTCACTGCTGTATTCCCAGCACCTAGAACAGTACTCAACGAAGAGTTATCGAATGGCAGAATAAAAGAATCACATTCAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAAACCCCATCTGTACTAAAAATATAAAAATTAGCCGGGCATGGTGGCACACACCTGTAGTCCCAGCTACTCGGGCACTCCAGCCTGGGTGACAGAGCAAGAGTCCATCTCAAAAATAAAATAAAAGTACCAAGTGCTGTCCACCCGCTCAGAGGAGCATGGTTCATAACCATCATTTTGGTTTTGTTTTGTTTTGTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGCTCAAGAGATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCATGTGCCGCCATGCCTGGCTAGTTTTGTATTTTTAGTAGAGGTGGGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCCACCTTGGCCCCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCAACCATCATTGTTATTACAGGTTTTATTACCATTTTGTGACTAACATTGCCTGCTTCATTCCTGGCAGACGGAGTTAGAAGCCAAAAGTGAAACCAGGCAGGAAAATTACTGGCTGATTCAGTATCAACGGCTTTTGAACCAGAAGCCCTTGTCCTTGAAGCTGCAAGTAAGGACTGCTGGTGCCTGTCCCGGCCAGGGAGCCCTGGGGACCTCCTCCCAGAGGCGCCTGTGGTGCCTCCACCATGCTCTGCCTCTTGTTACTTTTCTGGTGACTCTAGCATGCCAGATCCTGTGCCAAGCCCCAGTGGAGACAGAAGCGAGAGTAAGGGAGTGTTCATTCTGGTGAGGGGGACGACAAGGCACTGGTCACTGCTGTGCAGGGCAGAGACCACTGAGCCCACAGTAGAGCAAAGCCTGTGCCGGGAGCCACTGTCTGTCCAGCACCTGCGGGGACAGAGAGGCAGTTGAAACAGCCCCCTCTTGGTGGATGTTCAAGTTGCTTACTATTTTCAGGTTTGCAGACAGAGCGGCAGTGAACCCCTGGGCCTATCTATCTATCTATCTCTGTGTGCCTACCTATGAGTTTTTGTAGGAAAAATCCCGAGTACATTCTATGTATTATGTTATAAATATTCAAACCCTTCATTTCCTGTTGTAAACAGTGGGTTCTTTTCTTCCTTCCTGCTCATGGTACACGTTTCTGTCTTGCAGGAAGAGGGGATGGAGCGCCAGCTGGTGGCCCTCCTGGAGGAGCTGTCGGCTGAGCACTACCTGCCCATCTTTGCGCACCACCGCCTCTCACTGGACCTGCTGAGCCAAATGAGCCCGGGGACCTGGCCAAGGTGGGCAGCAGCCGTCTGCATGGAGGGGAGGGGCACGCAAGGCCGCTGTCCTGACCAGCCGGGGGTTGATCTGCTCCTTGTGTAGTCCTCGTTGAGGCCTGTCCTTACCTAATGGCCCAGGGCCACCTTGCTTCCAGATGGCCAGAACACCTGCCCATCTGCCCCAGCCGCCTGTGTGTGCCCTGCACACTGTCTCACTGGGAAATCCTGGGGAGGTGGGTCCTGCTGACCTGATCAGACTGGATCTTCAGACTGGAGGGACAAGACAGGCCCTTGGGGCTTATCTGATCCAGCCTCTGCCCTGCCTCATGGTGTCACAAACTGTCGTGGCCACAGCACTGCCTGAGCCCCTGTTCCTTTCTGGGCACAAGCTGAGCTCTTTACAGCACATTAATCCACTTATTCTTCAAAACAGAATACTCATCGCTGTGCCAGCTAACTTTGTAGCACCTGCACGTGCGGGGCACCATTTTAAGCACTTTTTGTATTCGAACTCACTGAATTCTCCCGACAGCCCAGCAGGGTACATATCATTATCATCATCTTTCAGTTGAGACCCAGTAAGGCAATAACTTGGCCCAAGGTCACACAGCAGAGTGAGGTCTCCACCCCAAGCAGTGTGGCCCCAGAGTTCGTGTTCTTTTTCATGAGACTCTCCTGCCCCTCCCTGGACAGATGCAGACACCAGGGTCCAAGAGGACTGGATGGCACTGAGGGTCACAAGGCCATGCCGCTCAGGCTCTGGAGGCTGAGGGACTGTGGGGCTCGTGTGCTGCTGCTGCTTAGTGGCTTGGCCTCCAAGGCTTCTCTCCTCCCCCACCTGGTGGGGAAGTGGCTGAGGTGTGCAGGTGAAGCCTGGCACCGGGAAGCAGTTGCTAAACCATAGCTGTTGCTAGTGCTGGTTTCCCTTTGGGCCTCAGTTTCCCCCCAACCCCTGCCACACTGATTGTTGGGCTGAGGCCTGGGGAGGTTGCCCTCACAGCTATGGTGCCGCACTGCCTCATCCTGACCGTGGGCCCCGCCAGGCCCCGGAAGGCTTCCACATTTCCAGCAGGAGGTGTCGACGGTCCTGTGAGCCTGGGCCTGTGCCACGTGGCTCACACCATTTAGCGGGCTCCCGCCCAGGCCACAGTCTGCACTTCCTTGAACTGTCACAGGTGGGCGTCTCAGAAGCTGGCCTGCAGCACGAGATCCTCCGGAGAGTCCAGGAACTGCTGGATGCAGCCAGGATCCAGCCAGGTACAAGCACAGCTCCAGCCTCTTCCAGGCAGGGCTCCAGCCGTATGTGTGGGCTCTGGTGGGGACAGTCATTTGCTTACATTTCAGGATGACTCCTGAGGGCTGGTTCTAGCCTCTGCTGGTCGGTAAGGTTTCCTCCCAAGGAGCAGGCTTAGGGATCAGTGAGCCCATTTTACAGATGGGAAAAATGGGCCACCAAATTGGGAGAACAGGAGACCTCCACGTAGCAGTGGAGGGGCCCTCCCAGCTCCCTGTCCCATAGCCTTCCCTCAGTCCACCCTACAGACGCTGGGATCCACACACTGAGGGACTTTGGACTAGAGGGAGAAATAGCCCGTCCCCAGGGCCTGCAGTATACCCAATGCTGGGCCTGAGGCATGCCTGTGGACATGGAGAGATGTCCACAACAGGCTGTGAAGGGGCAAAGGCAGGTCGTGAGGCCCGTGGGGAGAAGGGGCAGGTGTGGAGTCTGGGGTCTGCCATGTGCTGAGCATGATCTGGGAGCCCGGCACCTGCCCACCGCTGTGCATGAACCACGTTGAGGAACCTCCGGATCCATCCCGTGAGGAGGCACTGTTGTGGTCCTCATTTTCAAGATGGGGAAACTGAAGCGCAAAGAGGTTAGCATGTCCCCCATCAGGTCCCATTGCTGGCAGATGGTGGAGCCACTGGGCTTGCCTGCCTCCCTGGGGAAGAGGTGAGGGGCCAGAGCAGGGGTGAAGGAGAGGGCAGTCTTGTGCTGCTGGGCTGGGCGAGGCTCTGGACAGGGCATTTTTAGCCAGAGCCAAGGAAN | pathogenic | 150,183 |
Variant in LRSAM1 (leucine rich repeat and sterile alpha motif containing 1), chromosome 9, position 127501097—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2P'] | CTGTCTCAAAAAAAAAAAAGAAAAAGAAAAAAACAAATATAGAAGCTGGGTGCAGTGGCTCATGGCTGTAATCCCACACTTTGGGAGGCCTACGTGGGAGGATCACTCAAGCCCAGGAGTTTGAGACCAGCCTGGGCGACATAGGGAGACCCCTTCTCTACAAAAAATAAAATAAAATTAGCTGGGTGTGGTGGTGCACACCTTAGTTCCAGCTACTCGGGGGGCAAAGGTGGGAGGATCGCTTGAGCTTGGGAGGTCGAGGCTGCAGTGAGCCATGATTGTGCCCCTGCACTCCAGCCTGGAAAAGAGTGGGACTGTCTCAAAAACAAAACAAAAAAATTAAAAAAAATTAGCAAGGCGTCATCCCAGCTACTCTGGAGGCTGAGGTAGGAGGATTGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCTGTGATCATGATACTATACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTAAAAAAAAATATATATATATATATATATGAATGCCCCCTCGAAATGGTGGTTTGGGGGGAAGCACTGATAGCCTTAGAGGGTCTAGTGTTGTAACAGCCTTTAAAAAATCTTTAGTTGTGGCCGGGTGCGGTGCCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGCAGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAATTAGCTGGGCACAGTGGCGTGTGCCTATAGTCCCAGATACGCAAGAGGAGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACACTGCACTCCAGCCTGGCAAGAGTGAGACTCCATCTCAAAAAAAAAAAGAAAAACTTTAGTTTTTCCTGTTATAAAAAATAATGCTTGTAATTCAAGCCGTAGAATAAAGTGAACCGTGATCAGGAAGGGAACGAGGGATAGAGTCAAGGAAGTGGGTGGCTCACGTTGCATGATAGAAAAAGAGACTTAGCAGCCGGGCACGTTGGCTCACGCCTGTAATCCCAGCGCTCTGGGAGGCTGAGGTGGGCAGATCACCTGAAGTCAAAAGCTTGAGACCAGCCTGGCCAACATGGTGAAACCCCACCTCTACTAAAGATACAAAAATTAGCCTGTCGTGATAGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGAACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAGAGACTTAGCATTTTGTAAGGGCTGCTTCTGATGTCTTAGCAGGGGATGCTGACTCCAGGGCAGAGCAGCCAGCATGCTGGGGACTCTGTGGGGCTGGGGGCAGGGGAACAGCCTTGCGGGGGGCCTCTCATTCTGCTCCCCTGGGTCACCTGATGGGCAGCAGCCCATCCTGTCTCCTGGGCAACCAGGTGGAGAAGCCAAGAGCTGGCCCTTCACTGAGAGCTCCTGCCCCAGGGATCTGCAGCTGCATCACCAGATGGCCACATGGCCCTGGGTTGAGTGACTCCCCGTCTCTGAGCCTCAAATGTCTCATCTCTGAAAGTGCCAAGCCCTACTTGCAGGGTGGCTATGAAGCGTCCCGGGGACATTAGAGATCAGAGGACCCACTTAACAAGCGCTGCGGCCATCCCTGCAGAGAGAGACTTCACTCCCATTCTGCAGATGGGAAATGAGGCTCAGAGAAGAGAAGAAGAGAGTGTGTGGCAAGGAGAGCACTTCCCTCAGATCTGAGAGCAGAGGCTCCCCCACCCTCCAGCTCACTCACCATGGGGATGGGCAGGGCCACAATGAGCCCCCAGGGGTTAGGGTCAGCGGAGATGACCCTGGCTCAGTCTGTCTGTCTGGTCCCCACAGAGCTGAAACCACCAATGGGTGAGGTCGTCACCCCTACGGCCCCCCAGGAGCCTCCTGAGTCTGTGAGGCCATCCGCTCCCCCTGCAGAGCTGGAGGTGCAGGCCTCAGAGTGTGTCGTGTGCCTGGAACGGGAGGTAAGTCCGGGGCCCTCCCCACCCGCCTGCCCTGCCTGTGGCCACCCTCCTCAAATTCTGCAGGTACAGGGTTGTCTCTGAACGTGTTTTCTCCAGTTCTCTAAGTAGACTGTGCTCATCTAGAAAGAAGGCAGGAAATAAAGATGACCCCTGGTCCCATGACCCAAATATGAGCTGCGCTCACATCATTTTCCGGACCTTTTTCTTTTTGTTCCTACTTAATAAATACATTAGGAAAAAATTTCCCAAATCATGAAATATCAACAACATGATTTACCCTGCAGAGGCTTTAGAAAATCATCTTTTGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTAAAACTCCATCTCTACTAAAAATACAAAAATCAGCCAGGCGTGGTGGTGGGCGCCTGTAAGCCCAGATACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCCAAGATCCCACCACTGCACTCCAGCCTGGCAGACAGATCGAGATTCCATCTCAAAAAAAAGAAAAAATCATCTTTTAAAAATTCATTAACACTTACTCTAAAAATTACACAGAGCAGTGAATGAAATACAAATCCTCCTTTGCCTCCACTGAGGGATCCTACTTAGAAAAGCAGCCATGTTTGCAGTTTGATGATTCCAGGGTCTCCCGTTGACCTGACTCATGCCATGATATGGATGGACCTATTGGTTCCAAATATAATCCCTGTTCTGGGGCCCTTGGCATTCCAGACAGCTTTGAGCGGAGCTTGGATCAGTTCCTGAAAGCAGGAGATGCTGAGGCAAAGTGTGGTCCTGAGTCAGTGGCTGCTGCTCCGGGTTGGGATTGTTTGTAGACTGAGGAGTTCAGGGCCTGGGCAAGTGCATCAACAAGAAAGAAGCCTGAACACCCTGCGTGCCCTCCGGCAGGGGCCGGCGGAATAGGCCTCCGTCGCCTGTCCAGAGCGCAGGAATATAATCCCCAGTTTTATTTAAGAAAGAATCAGTTGGGGCATTTATATGGGTATTTATATTTTTTACAAACTATAGAGAAATAGACAGCAAACTGCTAACAGAAGGCCTAGGTTACCTGTTTCGGCCGTGCCTGTTCTGTTTCTGTGGTGGTCAAATGCCCGAAGGCCCCACTATCAGGCGTTTATGGTAAAGATGCTAAAGAATAATGAAGGGGGCCGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGGGGTCAGGAGTTCGAGACTAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTTAGCCAGGTATGGTGGTGCACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTAAACCCGGGAGGCTGAGGTTGCAGTGAGCTGAGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGACGGGCCTGGGACTCCTGGAACCCGGTAGGGCCAGCCACATGCTCCCGCTCTCCCTCCCCAGGCCCAGATGATCTTCCTCAACTGTGGCCACGTCTGCTGCTGCCAGCAGTGCTGCCAGCCACTGCGCACCTGCCCGCTGTGCCGCCAGGACATCGCCCAGCGCCTCCGCATCTACCACAGCAGCTGAGTGCTGCCCGCCCACCTGGGCCTGGTCCTAGCCCTGCCTCGGCCACTGTGAGCCCCGGGCTCCTGCTCAGCCTTGTGCCAGCCAGACTCGTATGAGGCTCCCCCCTGCCCTGGGCCCCTTCCCCACTGCCCAGGAGCCCCCATCCTAAGCTCCAAGCATGTCTGGGCCAGGCAGAGGTGCTCCTCATCCATGACACCACCAGTCTGAATGGTCCTGGGGGCTGGGGCTGGAGAGGCCGCTGCACC | CTGTCTCAAAAAAAAAAAAGAAAAAGAAAAAAACAAATATAGAAGCTGGGTGCAGTGGCTCATGGCTGTAATCCCACACTTTGGGAGGCCTACGTGGGAGGATCACTCAAGCCCAGGAGTTTGAGACCAGCCTGGGCGACATAGGGAGACCCCTTCTCTACAAAAAATAAAATAAAATTAGCTGGGTGTGGTGGTGCACACCTTAGTTCCAGCTACTCGGGGGGCAAAGGTGGGAGGATCGCTTGAGCTTGGGAGGTCGAGGCTGCAGTGAGCCATGATTGTGCCCCTGCACTCCAGCCTGGAAAAGAGTGGGACTGTCTCAAAAACAAAACAAAAAAATTAAAAAAAATTAGCAAGGCGTCATCCCAGCTACTCTGGAGGCTGAGGTAGGAGGATTGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCTGTGATCATGATACTATACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTAAAAAAAAATATATATATATATATATATGAATGCCCCCTCGAAATGGTGGTTTGGGGGGAAGCACTGATAGCCTTAGAGGGTCTAGTGTTGTAACAGCCTTTAAAAAATCTTTAGTTGTGGCCGGGTGCGGTGCCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGCAGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAATTAGCTGGGCACAGTGGCGTGTGCCTATAGTCCCAGATACGCAAGAGGAGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACACTGCACTCCAGCCTGGCAAGAGTGAGACTCCATCTCAAAAAAAAAAAGAAAAACTTTAGTTTTTCCTGTTATAAAAAATAATGCTTGTAATTCAAGCCGTAGAATAAAGTGAACCGTGATCAGGAAGGGAACGAGGGATAGAGTCAAGGAAGTGGGTGGCTCACGTTGCATGATAGAAAAAGAGACTTAGCAGCCGGGCACGTTGGCTCACGCCTGTAATCCCAGCGCTCTGGGAGGCTGAGGTGGGCAGATCACCTGAAGTCAAAAGCTTGAGACCAGCCTGGCCAACATGGTGAAACCCCACCTCTACTAAAGATACAAAAATTAGCCTGTCGTGATAGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGAACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAGAGACTTAGCATTTTGTAAGGGCTGCTTCTGATGTCTTAGCAGGGGATGCTGACTCCAGGGCAGAGCAGCCAGCATGCTGGGGACTCTGTGGGGCTGGGGGCAGGGGAACAGCCTTGCGGGGGGCCTCTCATTCTGCTCCCCTGGGTCACCTGATGGGCAGCAGCCCATCCTGTCTCCTGGGCAACCAGGTGGAGAAGCCAAGAGCTGGCCCTTCACTGAGAGCTCCTGCCCCAGGGATCTGCAGCTGCATCACCAGATGGCCACATGGCCCTGGGTTGAGTGACTCCCCGTCTCTGAGCCTCAAATGTCTCATCTCTGAAAGTGCCAAGCCCTACTTGCAGGGTGGCTATGAAGCGTCCCGGGGACATTAGAGATCAGAGGACCCACTTAACAAGCGCTGCGGCCATCCCTGCAGAGAGAGACTTCACTCCCATTCTGCAGATGGGAAATGAGGCTCAGAGAAGAGAAGAAGAGAGTGTGTGGCAAGGAGAGCACTTCCCTCAGATCTGAGAGCAGAGGCTCCCCCACCCTCCAGCTCACTCACCATGGGGATGGGCAGGGCCACAATGAGCCCCCAGGGGTTAGGGTCAGCGGAGATGACCCTGGCTCAGTCTGTCTGTCTGGTCCCCACAGAGCTGAAACCACCAATGGGTGAGGTCGTCACCCCTACGGCCCCCCAGGAGCCTCCTGAGTCTGTGAGGCCATCCGCTCCCCCTGCAGAGCCTCAGAGTGTGTCGTGTGCCTGGAACGGGAGGTAAGTCCGGGGCCCTCCCCACCCGCCTGCCCTGCCTGTGGCCACCCTCCTCAAATTCTGCAGGTACAGGGTTGTCTCTGAACGTGTTTTCTCCAGTTCTCTAAGTAGACTGTGCTCATCTAGAAAGAAGGCAGGAAATAAAGATGACCCCTGGTCCCATGACCCAAATATGAGCTGCGCTCACATCATTTTCCGGACCTTTTTCTTTTTGTTCCTACTTAATAAATACATTAGGAAAAAATTTCCCAAATCATGAAATATCAACAACATGATTTACCCTGCAGAGGCTTTAGAAAATCATCTTTTGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTAAAACTCCATCTCTACTAAAAATACAAAAATCAGCCAGGCGTGGTGGTGGGCGCCTGTAAGCCCAGATACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCCAAGATCCCACCACTGCACTCCAGCCTGGCAGACAGATCGAGATTCCATCTCAAAAAAAAGAAAAAATCATCTTTTAAAAATTCATTAACACTTACTCTAAAAATTACACAGAGCAGTGAATGAAATACAAATCCTCCTTTGCCTCCACTGAGGGATCCTACTTAGAAAAGCAGCCATGTTTGCAGTTTGATGATTCCAGGGTCTCCCGTTGACCTGACTCATGCCATGATATGGATGGACCTATTGGTTCCAAATATAATCCCTGTTCTGGGGCCCTTGGCATTCCAGACAGCTTTGAGCGGAGCTTGGATCAGTTCCTGAAAGCAGGAGATGCTGAGGCAAAGTGTGGTCCTGAGTCAGTGGCTGCTGCTCCGGGTTGGGATTGTTTGTAGACTGAGGAGTTCAGGGCCTGGGCAAGTGCATCAACAAGAAAGAAGCCTGAACACCCTGCGTGCCCTCCGGCAGGGGCCGGCGGAATAGGCCTCCGTCGCCTGTCCAGAGCGCAGGAATATAATCCCCAGTTTTATTTAAGAAAGAATCAGTTGGGGCATTTATATGGGTATTTATATTTTTTACAAACTATAGAGAAATAGACAGCAAACTGCTAACAGAAGGCCTAGGTTACCTGTTTCGGCCGTGCCTGTTCTGTTTCTGTGGTGGTCAAATGCCCGAAGGCCCCACTATCAGGCGTTTATGGTAAAGATGCTAAAGAATAATGAAGGGGGCCGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGGGGTCAGGAGTTCGAGACTAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTTAGCCAGGTATGGTGGTGCACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTAAACCCGGGAGGCTGAGGTTGCAGTGAGCTGAGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGACGGGCCTGGGACTCCTGGAACCCGGTAGGGCCAGCCACATGCTCCCGCTCTCCCTCCCCAGGCCCAGATGATCTTCCTCAACTGTGGCCACGTCTGCTGCTGCCAGCAGTGCTGCCAGCCACTGCGCACCTGCCCGCTGTGCCGCCAGGACATCGCCCAGCGCCTCCGCATCTACCACAGCAGCTGAGTGCTGCCCGCCCACCTGGGCCTGGTCCTAGCCCTGCCTCGGCCACTGTGAGCCCCGGGCTCCTGCTCAGCCTTGTGCCAGCCAGACTCGTATGAGGCTCCCCCCTGCCCTGGGCCCCTTCCCCACTGCCCAGGAGCCCCCATCCTAAGCTCCAAGCATGTCTGGGCCAGGCAGAGGTGCTCCTCATCCATGACACCACCAGTCTGAATGGTCCTGGGGGCTGGGGCTGGAGAGGCCGCTGCACCNNNNNNNNNNNNN | pathogenic | 150,198 |
Classify the chromosome 9 variant at position 127501103 affecting gene LRSAM1 (leucine rich repeat and sterile alpha motif containing 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_axonal_type_2P'] | CAAAAAAAAAAAAGAAAAAGAAAAAAACAAATATAGAAGCTGGGTGCAGTGGCTCATGGCTGTAATCCCACACTTTGGGAGGCCTACGTGGGAGGATCACTCAAGCCCAGGAGTTTGAGACCAGCCTGGGCGACATAGGGAGACCCCTTCTCTACAAAAAATAAAATAAAATTAGCTGGGTGTGGTGGTGCACACCTTAGTTCCAGCTACTCGGGGGGCAAAGGTGGGAGGATCGCTTGAGCTTGGGAGGTCGAGGCTGCAGTGAGCCATGATTGTGCCCCTGCACTCCAGCCTGGAAAAGAGTGGGACTGTCTCAAAAACAAAACAAAAAAATTAAAAAAAATTAGCAAGGCGTCATCCCAGCTACTCTGGAGGCTGAGGTAGGAGGATTGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCTGTGATCATGATACTATACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTAAAAAAAAATATATATATATATATATATGAATGCCCCCTCGAAATGGTGGTTTGGGGGGAAGCACTGATAGCCTTAGAGGGTCTAGTGTTGTAACAGCCTTTAAAAAATCTTTAGTTGTGGCCGGGTGCGGTGCCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGCAGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAATTAGCTGGGCACAGTGGCGTGTGCCTATAGTCCCAGATACGCAAGAGGAGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACACTGCACTCCAGCCTGGCAAGAGTGAGACTCCATCTCAAAAAAAAAAAGAAAAACTTTAGTTTTTCCTGTTATAAAAAATAATGCTTGTAATTCAAGCCGTAGAATAAAGTGAACCGTGATCAGGAAGGGAACGAGGGATAGAGTCAAGGAAGTGGGTGGCTCACGTTGCATGATAGAAAAAGAGACTTAGCAGCCGGGCACGTTGGCTCACGCCTGTAATCCCAGCGCTCTGGGAGGCTGAGGTGGGCAGATCACCTGAAGTCAAAAGCTTGAGACCAGCCTGGCCAACATGGTGAAACCCCACCTCTACTAAAGATACAAAAATTAGCCTGTCGTGATAGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGAACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAGAGACTTAGCATTTTGTAAGGGCTGCTTCTGATGTCTTAGCAGGGGATGCTGACTCCAGGGCAGAGCAGCCAGCATGCTGGGGACTCTGTGGGGCTGGGGGCAGGGGAACAGCCTTGCGGGGGGCCTCTCATTCTGCTCCCCTGGGTCACCTGATGGGCAGCAGCCCATCCTGTCTCCTGGGCAACCAGGTGGAGAAGCCAAGAGCTGGCCCTTCACTGAGAGCTCCTGCCCCAGGGATCTGCAGCTGCATCACCAGATGGCCACATGGCCCTGGGTTGAGTGACTCCCCGTCTCTGAGCCTCAAATGTCTCATCTCTGAAAGTGCCAAGCCCTACTTGCAGGGTGGCTATGAAGCGTCCCGGGGACATTAGAGATCAGAGGACCCACTTAACAAGCGCTGCGGCCATCCCTGCAGAGAGAGACTTCACTCCCATTCTGCAGATGGGAAATGAGGCTCAGAGAAGAGAAGAAGAGAGTGTGTGGCAAGGAGAGCACTTCCCTCAGATCTGAGAGCAGAGGCTCCCCCACCCTCCAGCTCACTCACCATGGGGATGGGCAGGGCCACAATGAGCCCCCAGGGGTTAGGGTCAGCGGAGATGACCCTGGCTCAGTCTGTCTGTCTGGTCCCCACAGAGCTGAAACCACCAATGGGTGAGGTCGTCACCCCTACGGCCCCCCAGGAGCCTCCTGAGTCTGTGAGGCCATCCGCTCCCCCTGCAGAGCTGGAGGTGCAGGCCTCAGAGTGTGTCGTGTGCCTGGAACGGGAGGTAAGTCCGGGGCCCTCCCCACCCGCCTGCCCTGCCTGTGGCCACCCTCCTCAAATTCTGCAGGTACAGGGTTGTCTCTGAACGTGTTTTCTCCAGTTCTCTAAGTAGACTGTGCTCATCTAGAAAGAAGGCAGGAAATAAAGATGACCCCTGGTCCCATGACCCAAATATGAGCTGCGCTCACATCATTTTCCGGACCTTTTTCTTTTTGTTCCTACTTAATAAATACATTAGGAAAAAATTTCCCAAATCATGAAATATCAACAACATGATTTACCCTGCAGAGGCTTTAGAAAATCATCTTTTGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTAAAACTCCATCTCTACTAAAAATACAAAAATCAGCCAGGCGTGGTGGTGGGCGCCTGTAAGCCCAGATACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCCAAGATCCCACCACTGCACTCCAGCCTGGCAGACAGATCGAGATTCCATCTCAAAAAAAAGAAAAAATCATCTTTTAAAAATTCATTAACACTTACTCTAAAAATTACACAGAGCAGTGAATGAAATACAAATCCTCCTTTGCCTCCACTGAGGGATCCTACTTAGAAAAGCAGCCATGTTTGCAGTTTGATGATTCCAGGGTCTCCCGTTGACCTGACTCATGCCATGATATGGATGGACCTATTGGTTCCAAATATAATCCCTGTTCTGGGGCCCTTGGCATTCCAGACAGCTTTGAGCGGAGCTTGGATCAGTTCCTGAAAGCAGGAGATGCTGAGGCAAAGTGTGGTCCTGAGTCAGTGGCTGCTGCTCCGGGTTGGGATTGTTTGTAGACTGAGGAGTTCAGGGCCTGGGCAAGTGCATCAACAAGAAAGAAGCCTGAACACCCTGCGTGCCCTCCGGCAGGGGCCGGCGGAATAGGCCTCCGTCGCCTGTCCAGAGCGCAGGAATATAATCCCCAGTTTTATTTAAGAAAGAATCAGTTGGGGCATTTATATGGGTATTTATATTTTTTACAAACTATAGAGAAATAGACAGCAAACTGCTAACAGAAGGCCTAGGTTACCTGTTTCGGCCGTGCCTGTTCTGTTTCTGTGGTGGTCAAATGCCCGAAGGCCCCACTATCAGGCGTTTATGGTAAAGATGCTAAAGAATAATGAAGGGGGCCGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGGGGTCAGGAGTTCGAGACTAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTTAGCCAGGTATGGTGGTGCACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTAAACCCGGGAGGCTGAGGTTGCAGTGAGCTGAGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGACGGGCCTGGGACTCCTGGAACCCGGTAGGGCCAGCCACATGCTCCCGCTCTCCCTCCCCAGGCCCAGATGATCTTCCTCAACTGTGGCCACGTCTGCTGCTGCCAGCAGTGCTGCCAGCCACTGCGCACCTGCCCGCTGTGCCGCCAGGACATCGCCCAGCGCCTCCGCATCTACCACAGCAGCTGAGTGCTGCCCGCCCACCTGGGCCTGGTCCTAGCCCTGCCTCGGCCACTGTGAGCCCCGGGCTCCTGCTCAGCCTTGTGCCAGCCAGACTCGTATGAGGCTCCCCCCTGCCCTGGGCCCCTTCCCCACTGCCCAGGAGCCCCCATCCTAAGCTCCAAGCATGTCTGGGCCAGGCAGAGGTGCTCCTCATCCATGACACCACCAGTCTGAATGGTCCTGGGGGCTGGGGCTGGAGAGGCCGCTGCACCACCACC | CAAAAAAAAAAAAGAAAAAGAAAAAAACAAATATAGAAGCTGGGTGCAGTGGCTCATGGCTGTAATCCCACACTTTGGGAGGCCTACGTGGGAGGATCACTCAAGCCCAGGAGTTTGAGACCAGCCTGGGCGACATAGGGAGACCCCTTCTCTACAAAAAATAAAATAAAATTAGCTGGGTGTGGTGGTGCACACCTTAGTTCCAGCTACTCGGGGGGCAAAGGTGGGAGGATCGCTTGAGCTTGGGAGGTCGAGGCTGCAGTGAGCCATGATTGTGCCCCTGCACTCCAGCCTGGAAAAGAGTGGGACTGTCTCAAAAACAAAACAAAAAAATTAAAAAAAATTAGCAAGGCGTCATCCCAGCTACTCTGGAGGCTGAGGTAGGAGGATTGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCTGTGATCATGATACTATACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTAAAAAAAAATATATATATATATATATATGAATGCCCCCTCGAAATGGTGGTTTGGGGGGAAGCACTGATAGCCTTAGAGGGTCTAGTGTTGTAACAGCCTTTAAAAAATCTTTAGTTGTGGCCGGGTGCGGTGCCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGCAGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAATTAGCTGGGCACAGTGGCGTGTGCCTATAGTCCCAGATACGCAAGAGGAGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACACTGCACTCCAGCCTGGCAAGAGTGAGACTCCATCTCAAAAAAAAAAAGAAAAACTTTAGTTTTTCCTGTTATAAAAAATAATGCTTGTAATTCAAGCCGTAGAATAAAGTGAACCGTGATCAGGAAGGGAACGAGGGATAGAGTCAAGGAAGTGGGTGGCTCACGTTGCATGATAGAAAAAGAGACTTAGCAGCCGGGCACGTTGGCTCACGCCTGTAATCCCAGCGCTCTGGGAGGCTGAGGTGGGCAGATCACCTGAAGTCAAAAGCTTGAGACCAGCCTGGCCAACATGGTGAAACCCCACCTCTACTAAAGATACAAAAATTAGCCTGTCGTGATAGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGAACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAGAGACTTAGCATTTTGTAAGGGCTGCTTCTGATGTCTTAGCAGGGGATGCTGACTCCAGGGCAGAGCAGCCAGCATGCTGGGGACTCTGTGGGGCTGGGGGCAGGGGAACAGCCTTGCGGGGGGCCTCTCATTCTGCTCCCCTGGGTCACCTGATGGGCAGCAGCCCATCCTGTCTCCTGGGCAACCAGGTGGAGAAGCCAAGAGCTGGCCCTTCACTGAGAGCTCCTGCCCCAGGGATCTGCAGCTGCATCACCAGATGGCCACATGGCCCTGGGTTGAGTGACTCCCCGTCTCTGAGCCTCAAATGTCTCATCTCTGAAAGTGCCAAGCCCTACTTGCAGGGTGGCTATGAAGCGTCCCGGGGACATTAGAGATCAGAGGACCCACTTAACAAGCGCTGCGGCCATCCCTGCAGAGAGAGACTTCACTCCCATTCTGCAGATGGGAAATGAGGCTCAGAGAAGAGAAGAAGAGAGTGTGTGGCAAGGAGAGCACTTCCCTCAGATCTGAGAGCAGAGGCTCCCCCACCCTCCAGCTCACTCACCATGGGGATGGGCAGGGCCACAATGAGCCCCCAGGGGTTAGGGTCAGCGGAGATGACCCTGGCTCAGTCTGTCTGTCTGGTCCCCACAGAGCTGAAACCACCAATGGGTGAGGTCGTCACCCCTACGGCCCCCCAGGAGCCTCCTGAGTCTGTGAGGCCATCCGCTCCCCCTGCAGAGCTGGAGTGCAGGCCTCAGAGTGTGTCGTGTGCCTGGAACGGGAGGTAAGTCCGGGGCCCTCCCCACCCGCCTGCCCTGCCTGTGGCCACCCTCCTCAAATTCTGCAGGTACAGGGTTGTCTCTGAACGTGTTTTCTCCAGTTCTCTAAGTAGACTGTGCTCATCTAGAAAGAAGGCAGGAAATAAAGATGACCCCTGGTCCCATGACCCAAATATGAGCTGCGCTCACATCATTTTCCGGACCTTTTTCTTTTTGTTCCTACTTAATAAATACATTAGGAAAAAATTTCCCAAATCATGAAATATCAACAACATGATTTACCCTGCAGAGGCTTTAGAAAATCATCTTTTGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTAAAACTCCATCTCTACTAAAAATACAAAAATCAGCCAGGCGTGGTGGTGGGCGCCTGTAAGCCCAGATACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCCAAGATCCCACCACTGCACTCCAGCCTGGCAGACAGATCGAGATTCCATCTCAAAAAAAAGAAAAAATCATCTTTTAAAAATTCATTAACACTTACTCTAAAAATTACACAGAGCAGTGAATGAAATACAAATCCTCCTTTGCCTCCACTGAGGGATCCTACTTAGAAAAGCAGCCATGTTTGCAGTTTGATGATTCCAGGGTCTCCCGTTGACCTGACTCATGCCATGATATGGATGGACCTATTGGTTCCAAATATAATCCCTGTTCTGGGGCCCTTGGCATTCCAGACAGCTTTGAGCGGAGCTTGGATCAGTTCCTGAAAGCAGGAGATGCTGAGGCAAAGTGTGGTCCTGAGTCAGTGGCTGCTGCTCCGGGTTGGGATTGTTTGTAGACTGAGGAGTTCAGGGCCTGGGCAAGTGCATCAACAAGAAAGAAGCCTGAACACCCTGCGTGCCCTCCGGCAGGGGCCGGCGGAATAGGCCTCCGTCGCCTGTCCAGAGCGCAGGAATATAATCCCCAGTTTTATTTAAGAAAGAATCAGTTGGGGCATTTATATGGGTATTTATATTTTTTACAAACTATAGAGAAATAGACAGCAAACTGCTAACAGAAGGCCTAGGTTACCTGTTTCGGCCGTGCCTGTTCTGTTTCTGTGGTGGTCAAATGCCCGAAGGCCCCACTATCAGGCGTTTATGGTAAAGATGCTAAAGAATAATGAAGGGGGCCGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGGGGTCAGGAGTTCGAGACTAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTTAGCCAGGTATGGTGGTGCACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTAAACCCGGGAGGCTGAGGTTGCAGTGAGCTGAGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGACGGGCCTGGGACTCCTGGAACCCGGTAGGGCCAGCCACATGCTCCCGCTCTCCCTCCCCAGGCCCAGATGATCTTCCTCAACTGTGGCCACGTCTGCTGCTGCCAGCAGTGCTGCCAGCCACTGCGCACCTGCCCGCTGTGCCGCCAGGACATCGCCCAGCGCCTCCGCATCTACCACAGCAGCTGAGTGCTGCCCGCCCACCTGGGCCTGGTCCTAGCCCTGCCTCGGCCACTGTGAGCCCCGGGCTCCTGCTCAGCCTTGTGCCAGCCAGACTCGTATGAGGCTCCCCCCTGCCCTGGGCCCCTTCCCCACTGCCCAGGAGCCCCCATCCTAAGCTCCAAGCATGTCTGGGCCAGGCAGAGGTGCTCCTCATCCATGACACCACCAGTCTGAATGGTCCTGGGGGCTGGGGCTGGAGAGGCCGCTGCACCACCACCN | pathogenic | 150,199 |
The mutation in gene LRSAM1 (leucine rich repeat and sterile alpha motif containing 1) at chromosome 9, position 127501115—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_axonal_type_2P', 'Inborn_genetic_diseases'] | AGAAAAAGAAAAAAACAAATATAGAAGCTGGGTGCAGTGGCTCATGGCTGTAATCCCACACTTTGGGAGGCCTACGTGGGAGGATCACTCAAGCCCAGGAGTTTGAGACCAGCCTGGGCGACATAGGGAGACCCCTTCTCTACAAAAAATAAAATAAAATTAGCTGGGTGTGGTGGTGCACACCTTAGTTCCAGCTACTCGGGGGGCAAAGGTGGGAGGATCGCTTGAGCTTGGGAGGTCGAGGCTGCAGTGAGCCATGATTGTGCCCCTGCACTCCAGCCTGGAAAAGAGTGGGACTGTCTCAAAAACAAAACAAAAAAATTAAAAAAAATTAGCAAGGCGTCATCCCAGCTACTCTGGAGGCTGAGGTAGGAGGATTGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCTGTGATCATGATACTATACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTAAAAAAAAATATATATATATATATATATGAATGCCCCCTCGAAATGGTGGTTTGGGGGGAAGCACTGATAGCCTTAGAGGGTCTAGTGTTGTAACAGCCTTTAAAAAATCTTTAGTTGTGGCCGGGTGCGGTGCCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGCAGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAATTAGCTGGGCACAGTGGCGTGTGCCTATAGTCCCAGATACGCAAGAGGAGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACACTGCACTCCAGCCTGGCAAGAGTGAGACTCCATCTCAAAAAAAAAAAGAAAAACTTTAGTTTTTCCTGTTATAAAAAATAATGCTTGTAATTCAAGCCGTAGAATAAAGTGAACCGTGATCAGGAAGGGAACGAGGGATAGAGTCAAGGAAGTGGGTGGCTCACGTTGCATGATAGAAAAAGAGACTTAGCAGCCGGGCACGTTGGCTCACGCCTGTAATCCCAGCGCTCTGGGAGGCTGAGGTGGGCAGATCACCTGAAGTCAAAAGCTTGAGACCAGCCTGGCCAACATGGTGAAACCCCACCTCTACTAAAGATACAAAAATTAGCCTGTCGTGATAGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGAACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAGAGACTTAGCATTTTGTAAGGGCTGCTTCTGATGTCTTAGCAGGGGATGCTGACTCCAGGGCAGAGCAGCCAGCATGCTGGGGACTCTGTGGGGCTGGGGGCAGGGGAACAGCCTTGCGGGGGGCCTCTCATTCTGCTCCCCTGGGTCACCTGATGGGCAGCAGCCCATCCTGTCTCCTGGGCAACCAGGTGGAGAAGCCAAGAGCTGGCCCTTCACTGAGAGCTCCTGCCCCAGGGATCTGCAGCTGCATCACCAGATGGCCACATGGCCCTGGGTTGAGTGACTCCCCGTCTCTGAGCCTCAAATGTCTCATCTCTGAAAGTGCCAAGCCCTACTTGCAGGGTGGCTATGAAGCGTCCCGGGGACATTAGAGATCAGAGGACCCACTTAACAAGCGCTGCGGCCATCCCTGCAGAGAGAGACTTCACTCCCATTCTGCAGATGGGAAATGAGGCTCAGAGAAGAGAAGAAGAGAGTGTGTGGCAAGGAGAGCACTTCCCTCAGATCTGAGAGCAGAGGCTCCCCCACCCTCCAGCTCACTCACCATGGGGATGGGCAGGGCCACAATGAGCCCCCAGGGGTTAGGGTCAGCGGAGATGACCCTGGCTCAGTCTGTCTGTCTGGTCCCCACAGAGCTGAAACCACCAATGGGTGAGGTCGTCACCCCTACGGCCCCCCAGGAGCCTCCTGAGTCTGTGAGGCCATCCGCTCCCCCTGCAGAGCTGGAGGTGCAGGCCTCAGAGTGTGTCGTGTGCCTGGAACGGGAGGTAAGTCCGGGGCCCTCCCCACCCGCCTGCCCTGCCTGTGGCCACCCTCCTCAAATTCTGCAGGTACAGGGTTGTCTCTGAACGTGTTTTCTCCAGTTCTCTAAGTAGACTGTGCTCATCTAGAAAGAAGGCAGGAAATAAAGATGACCCCTGGTCCCATGACCCAAATATGAGCTGCGCTCACATCATTTTCCGGACCTTTTTCTTTTTGTTCCTACTTAATAAATACATTAGGAAAAAATTTCCCAAATCATGAAATATCAACAACATGATTTACCCTGCAGAGGCTTTAGAAAATCATCTTTTGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTAAAACTCCATCTCTACTAAAAATACAAAAATCAGCCAGGCGTGGTGGTGGGCGCCTGTAAGCCCAGATACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCCAAGATCCCACCACTGCACTCCAGCCTGGCAGACAGATCGAGATTCCATCTCAAAAAAAAGAAAAAATCATCTTTTAAAAATTCATTAACACTTACTCTAAAAATTACACAGAGCAGTGAATGAAATACAAATCCTCCTTTGCCTCCACTGAGGGATCCTACTTAGAAAAGCAGCCATGTTTGCAGTTTGATGATTCCAGGGTCTCCCGTTGACCTGACTCATGCCATGATATGGATGGACCTATTGGTTCCAAATATAATCCCTGTTCTGGGGCCCTTGGCATTCCAGACAGCTTTGAGCGGAGCTTGGATCAGTTCCTGAAAGCAGGAGATGCTGAGGCAAAGTGTGGTCCTGAGTCAGTGGCTGCTGCTCCGGGTTGGGATTGTTTGTAGACTGAGGAGTTCAGGGCCTGGGCAAGTGCATCAACAAGAAAGAAGCCTGAACACCCTGCGTGCCCTCCGGCAGGGGCCGGCGGAATAGGCCTCCGTCGCCTGTCCAGAGCGCAGGAATATAATCCCCAGTTTTATTTAAGAAAGAATCAGTTGGGGCATTTATATGGGTATTTATATTTTTTACAAACTATAGAGAAATAGACAGCAAACTGCTAACAGAAGGCCTAGGTTACCTGTTTCGGCCGTGCCTGTTCTGTTTCTGTGGTGGTCAAATGCCCGAAGGCCCCACTATCAGGCGTTTATGGTAAAGATGCTAAAGAATAATGAAGGGGGCCGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGGGGTCAGGAGTTCGAGACTAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTTAGCCAGGTATGGTGGTGCACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTAAACCCGGGAGGCTGAGGTTGCAGTGAGCTGAGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGACGGGCCTGGGACTCCTGGAACCCGGTAGGGCCAGCCACATGCTCCCGCTCTCCCTCCCCAGGCCCAGATGATCTTCCTCAACTGTGGCCACGTCTGCTGCTGCCAGCAGTGCTGCCAGCCACTGCGCACCTGCCCGCTGTGCCGCCAGGACATCGCCCAGCGCCTCCGCATCTACCACAGCAGCTGAGTGCTGCCCGCCCACCTGGGCCTGGTCCTAGCCCTGCCTCGGCCACTGTGAGCCCCGGGCTCCTGCTCAGCCTTGTGCCAGCCAGACTCGTATGAGGCTCCCCCCTGCCCTGGGCCCCTTCCCCACTGCCCAGGAGCCCCCATCCTAAGCTCCAAGCATGTCTGGGCCAGGCAGAGGTGCTCCTCATCCATGACACCACCAGTCTGAATGGTCCTGGGGGCTGGGGCTGGAGAGGCCGCTGCACCACCACCCGAGCCTGGGAG | AGAAAAAGAAAAAAACAAATATAGAAGCTGGGTGCAGTGGCTCATGGCTGTAATCCCACACTTTGGGAGGCCTACGTGGGAGGATCACTCAAGCCCAGGAGTTTGAGACCAGCCTGGGCGACATAGGGAGACCCCTTCTCTACAAAAAATAAAATAAAATTAGCTGGGTGTGGTGGTGCACACCTTAGTTCCAGCTACTCGGGGGGCAAAGGTGGGAGGATCGCTTGAGCTTGGGAGGTCGAGGCTGCAGTGAGCCATGATTGTGCCCCTGCACTCCAGCCTGGAAAAGAGTGGGACTGTCTCAAAAACAAAACAAAAAAATTAAAAAAAATTAGCAAGGCGTCATCCCAGCTACTCTGGAGGCTGAGGTAGGAGGATTGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCTGTGATCATGATACTATACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTAAAAAAAAATATATATATATATATATATGAATGCCCCCTCGAAATGGTGGTTTGGGGGGAAGCACTGATAGCCTTAGAGGGTCTAGTGTTGTAACAGCCTTTAAAAAATCTTTAGTTGTGGCCGGGTGCGGTGCCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGCAGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAATTAGCTGGGCACAGTGGCGTGTGCCTATAGTCCCAGATACGCAAGAGGAGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACACTGCACTCCAGCCTGGCAAGAGTGAGACTCCATCTCAAAAAAAAAAAGAAAAACTTTAGTTTTTCCTGTTATAAAAAATAATGCTTGTAATTCAAGCCGTAGAATAAAGTGAACCGTGATCAGGAAGGGAACGAGGGATAGAGTCAAGGAAGTGGGTGGCTCACGTTGCATGATAGAAAAAGAGACTTAGCAGCCGGGCACGTTGGCTCACGCCTGTAATCCCAGCGCTCTGGGAGGCTGAGGTGGGCAGATCACCTGAAGTCAAAAGCTTGAGACCAGCCTGGCCAACATGGTGAAACCCCACCTCTACTAAAGATACAAAAATTAGCCTGTCGTGATAGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGAACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAGAGACTTAGCATTTTGTAAGGGCTGCTTCTGATGTCTTAGCAGGGGATGCTGACTCCAGGGCAGAGCAGCCAGCATGCTGGGGACTCTGTGGGGCTGGGGGCAGGGGAACAGCCTTGCGGGGGGCCTCTCATTCTGCTCCCCTGGGTCACCTGATGGGCAGCAGCCCATCCTGTCTCCTGGGCAACCAGGTGGAGAAGCCAAGAGCTGGCCCTTCACTGAGAGCTCCTGCCCCAGGGATCTGCAGCTGCATCACCAGATGGCCACATGGCCCTGGGTTGAGTGACTCCCCGTCTCTGAGCCTCAAATGTCTCATCTCTGAAAGTGCCAAGCCCTACTTGCAGGGTGGCTATGAAGCGTCCCGGGGACATTAGAGATCAGAGGACCCACTTAACAAGCGCTGCGGCCATCCCTGCAGAGAGAGACTTCACTCCCATTCTGCAGATGGGAAATGAGGCTCAGAGAAGAGAAGAAGAGAGTGTGTGGCAAGGAGAGCACTTCCCTCAGATCTGAGAGCAGAGGCTCCCCCACCCTCCAGCTCACTCACCATGGGGATGGGCAGGGCCACAATGAGCCCCCAGGGGTTAGGGTCAGCGGAGATGACCCTGGCTCAGTCTGTCTGTCTGGTCCCCACAGAGCTGAAACCACCAATGGGTGAGGTCGTCACCCCTACGGCCCCCCAGGAGCCTCCTGAGTCTGTGAGGCCATCCGCTCCCCCTGCAGAGCTGGAGGTGCAGGCCTCAAGAGTGTGTCGTGTGCCTGGAACGGGAGGTAAGTCCGGGGCCCTCCCCACCCGCCTGCCCTGCCTGTGGCCACCCTCCTCAAATTCTGCAGGTACAGGGTTGTCTCTGAACGTGTTTTCTCCAGTTCTCTAAGTAGACTGTGCTCATCTAGAAAGAAGGCAGGAAATAAAGATGACCCCTGGTCCCATGACCCAAATATGAGCTGCGCTCACATCATTTTCCGGACCTTTTTCTTTTTGTTCCTACTTAATAAATACATTAGGAAAAAATTTCCCAAATCATGAAATATCAACAACATGATTTACCCTGCAGAGGCTTTAGAAAATCATCTTTTGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTAAAACTCCATCTCTACTAAAAATACAAAAATCAGCCAGGCGTGGTGGTGGGCGCCTGTAAGCCCAGATACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCCAAGATCCCACCACTGCACTCCAGCCTGGCAGACAGATCGAGATTCCATCTCAAAAAAAAGAAAAAATCATCTTTTAAAAATTCATTAACACTTACTCTAAAAATTACACAGAGCAGTGAATGAAATACAAATCCTCCTTTGCCTCCACTGAGGGATCCTACTTAGAAAAGCAGCCATGTTTGCAGTTTGATGATTCCAGGGTCTCCCGTTGACCTGACTCATGCCATGATATGGATGGACCTATTGGTTCCAAATATAATCCCTGTTCTGGGGCCCTTGGCATTCCAGACAGCTTTGAGCGGAGCTTGGATCAGTTCCTGAAAGCAGGAGATGCTGAGGCAAAGTGTGGTCCTGAGTCAGTGGCTGCTGCTCCGGGTTGGGATTGTTTGTAGACTGAGGAGTTCAGGGCCTGGGCAAGTGCATCAACAAGAAAGAAGCCTGAACACCCTGCGTGCCCTCCGGCAGGGGCCGGCGGAATAGGCCTCCGTCGCCTGTCCAGAGCGCAGGAATATAATCCCCAGTTTTATTTAAGAAAGAATCAGTTGGGGCATTTATATGGGTATTTATATTTTTTACAAACTATAGAGAAATAGACAGCAAACTGCTAACAGAAGGCCTAGGTTACCTGTTTCGGCCGTGCCTGTTCTGTTTCTGTGGTGGTCAAATGCCCGAAGGCCCCACTATCAGGCGTTTATGGTAAAGATGCTAAAGAATAATGAAGGGGGCCGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGGGGTCAGGAGTTCGAGACTAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTTAGCCAGGTATGGTGGTGCACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTAAACCCGGGAGGCTGAGGTTGCAGTGAGCTGAGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGACGGGCCTGGGACTCCTGGAACCCGGTAGGGCCAGCCACATGCTCCCGCTCTCCCTCCCCAGGCCCAGATGATCTTCCTCAACTGTGGCCACGTCTGCTGCTGCCAGCAGTGCTGCCAGCCACTGCGCACCTGCCCGCTGTGCCGCCAGGACATCGCCCAGCGCCTCCGCATCTACCACAGCAGCTGAGTGCTGCCCGCCCACCTGGGCCTGGTCCTAGCCCTGCCTCGGCCACTGTGAGCCCCGGGCTCCTGCTCAGCCTTGTGCCAGCCAGACTCGTATGAGGCTCCCCCCTGCCCTGGGCCCCTTCCCCACTGCCCAGGAGCCCCCATCCTAAGCTCCAAGCATGTCTGGGCCAGGCAGAGGTGCTCCTCATCCATGACACCACCAGTCTGAATGGTCCTGGGGGCTGGGGCTGGAGAGGCCGCTGCACCACCACCCGAGCCTGGGA | pathogenic | 150,200 |
Gene mutation in LRSAM1 (leucine rich repeat and sterile alpha motif containing 1) at chromosome 9, position 127502809—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2P', 'Inborn_genetic_diseases'] | CACTTAACAAGCGCTGCGGCCATCCCTGCAGAGAGAGACTTCACTCCCATTCTGCAGATGGGAAATGAGGCTCAGAGAAGAGAAGAAGAGAGTGTGTGGCAAGGAGAGCACTTCCCTCAGATCTGAGAGCAGAGGCTCCCCCACCCTCCAGCTCACTCACCATGGGGATGGGCAGGGCCACAATGAGCCCCCAGGGGTTAGGGTCAGCGGAGATGACCCTGGCTCAGTCTGTCTGTCTGGTCCCCACAGAGCTGAAACCACCAATGGGTGAGGTCGTCACCCCTACGGCCCCCCAGGAGCCTCCTGAGTCTGTGAGGCCATCCGCTCCCCCTGCAGAGCTGGAGGTGCAGGCCTCAGAGTGTGTCGTGTGCCTGGAACGGGAGGTAAGTCCGGGGCCCTCCCCACCCGCCTGCCCTGCCTGTGGCCACCCTCCTCAAATTCTGCAGGTACAGGGTTGTCTCTGAACGTGTTTTCTCCAGTTCTCTAAGTAGACTGTGCTCATCTAGAAAGAAGGCAGGAAATAAAGATGACCCCTGGTCCCATGACCCAAATATGAGCTGCGCTCACATCATTTTCCGGACCTTTTTCTTTTTGTTCCTACTTAATAAATACATTAGGAAAAAATTTCCCAAATCATGAAATATCAACAACATGATTTACCCTGCAGAGGCTTTAGAAAATCATCTTTTGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTAAAACTCCATCTCTACTAAAAATACAAAAATCAGCCAGGCGTGGTGGTGGGCGCCTGTAAGCCCAGATACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCCAAGATCCCACCACTGCACTCCAGCCTGGCAGACAGATCGAGATTCCATCTCAAAAAAAAGAAAAAATCATCTTTTAAAAATTCATTAACACTTACTCTAAAAATTACACAGAGCAGTGAATGAAATACAAATCCTCCTTTGCCTCCACTGAGGGATCCTACTTAGAAAAGCAGCCATGTTTGCAGTTTGATGATTCCAGGGTCTCCCGTTGACCTGACTCATGCCATGATATGGATGGACCTATTGGTTCCAAATATAATCCCTGTTCTGGGGCCCTTGGCATTCCAGACAGCTTTGAGCGGAGCTTGGATCAGTTCCTGAAAGCAGGAGATGCTGAGGCAAAGTGTGGTCCTGAGTCAGTGGCTGCTGCTCCGGGTTGGGATTGTTTGTAGACTGAGGAGTTCAGGGCCTGGGCAAGTGCATCAACAAGAAAGAAGCCTGAACACCCTGCGTGCCCTCCGGCAGGGGCCGGCGGAATAGGCCTCCGTCGCCTGTCCAGAGCGCAGGAATATAATCCCCAGTTTTATTTAAGAAAGAATCAGTTGGGGCATTTATATGGGTATTTATATTTTTTACAAACTATAGAGAAATAGACAGCAAACTGCTAACAGAAGGCCTAGGTTACCTGTTTCGGCCGTGCCTGTTCTGTTTCTGTGGTGGTCAAATGCCCGAAGGCCCCACTATCAGGCGTTTATGGTAAAGATGCTAAAGAATAATGAAGGGGGCCGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGGGGTCAGGAGTTCGAGACTAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTTAGCCAGGTATGGTGGTGCACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTAAACCCGGGAGGCTGAGGTTGCAGTGAGCTGAGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGACGGGCCTGGGACTCCTGGAACCCGGTAGGGCCAGCCACATGCTCCCGCTCTCCCTCCCCAGGCCCAGATGATCTTCCTCAACTGTGGCCACGTCTGCTGCTGCCAGCAGTGCTGCCAGCCACTGCGCACCTGCCCGCTGTGCCGCCAGGACATCGCCCAGCGCCTCCGCATCTACCACAGCAGCTGAGTGCTGCCCGCCCACCTGGGCCTGGTCCTAGCCCTGCCTCGGCCACTGTGAGCCCCGGGCTCCTGCTCAGCCTTGTGCCAGCCAGACTCGTATGAGGCTCCCCCCTGCCCTGGGCCCCTTCCCCACTGCCCAGGAGCCCCCATCCTAAGCTCCAAGCATGTCTGGGCCAGGCAGAGGTGCTCCTCATCCATGACACCACCAGTCTGAATGGTCCTGGGGGCTGGGGCTGGAGAGGCCGCTGCACCACCACCCGAGCCTGGGAGCCAGCGTCCCAGCCTAATCACGGATCTGCTGCCTCCCAGCTGTCTTGACTGAAGGCCACCGCCCCTGCAGGAGCTTGGGTCCTCATCTGGGGGCCATGCACAGGCCCGTCCCACCCTGCATGTGGGAAGGGAGCAGGAGGGCCTGGCTGGGTGAGGGGAGGCCTTCCTGGGAAGGCGTGTGGTGCAGGCCTGTGCTCACAGTGGCACCAGCAACCCTGGGTCTCCCTCTCTGCTGCTCCCCAGAACCCCGGGGCCCTCCTGCTCTCCACAACTGTCCCTCCTTACCCCATGTAGCTCGATCCGAAGCAGGAGTGTCAATAAACCTGTCTTCAGTGCGCTTCTGGCCTGAGTCATCACTGGGTTCTCATGGGAGCCCAGGGAGGGGAGGGGACGAGGTCTGGGGATGGGGCTCGGGCAGAGGGCAGCTCTTCTCGGGGAAGGAGCCAGGAGTGCGCCGCACCTCAGTCGAGAGGAGAGGTCAGGTAGGGCCATCTCGAATGTCGTGTTATCCCAGCGCCCCCTTCACAGGTGGAGAGACCAGGGCCCAGAGGCAGCCAGGGCCGGTGATGGCTGCGGCCTGTGCCTCCATGAGCGGAGGAGCCCTGTGTGTTCCGTCCATTATCCCAGTGAGGCAGCTGAGGCTGATGGGGGTAAATGCTCAGGGCCTTGCAACTGGGACATGGTGATGCGGGGTTTGAGGCCCAGAAGCATCCTCACCTTCAAGCCCGTGCGGTTGTGCAGGTTGGTCACTGCACAATTCTTGGAGCCATATACACTTGCACTCGCTGCAGAGGTGCACGTTGATTATGCATTTTCCGGCAGACGGCGTTGAGCCAGGTGCAGCCTCTTCCTTGGGCTCGTGGCAGGCCTGCTTGGAGCACCTGGGCTCTGCCTCCAGCTCATTCAGTGATCGTGGCCAGTGTTTGGGCTCCTTTCCCTGTGCATTCAACACAGGACGTGATGCAGCCCTGACCGGCTGGTGGCCTCCAGGGGGCGCTGAGTGCTTGCCCCAAGTACAGCGTCCGCAGAAGCAGGCAGGAGAGTTCAGGTCCTGGGGTGGCAGAACAGCCCTACGCCTGGGCCTGTTTCCCTCTCACTGAGACCATCAGTCCTGTGCACTGAACAGGGCAGGCGAATACCCTTTGTCGTGTGAGTCATTTCCCAGGCAGGAGCTGGGTGGCCTTTTCCCACCCACAGTTCCCCCTCAGTTCCCCCTCCTCCCAACACCCTCCTGGGCTCAACTTGGCCAAGAGGGGAGAGACTGAGGCAGGTGGGGCTACCTCCTGGAGCGCAGTGCTTTGCAGATCTCCTTACGCTCTCACTAGGGCCCAGGGAGGCCTCATGGAGGATCTCGAGGCTCAGTGACCTGCCAAGGACAACAGCAAGGGACAGCCGCATCCCTGGTCTCCGGCCACACAGCCCCGTGTTCTGCACCTCAGCCCTTGTTGACCGAGGGAGGCCCAGGCCCAAGCCCTAGGCCACCATGGACAGGCTGGCACCAGGGAAGCCAACATCCCCAAGGTGACTGGCTGCCACCCCACCAGTAGGGACATGTTTTTACCCATAGATGGGGCAACCCACCCCCAACAGCTGCAGGGGCTCGAGGGCTGTTCCTGTACCACATAGGCTCAGCCCAGGTCCCCACCTTCCAAGGCCTCAGTGTACACATCGGTGAAATGGTGGTGACGACTGTG | CACTTAACAAGCGCTGCGGCCATCCCTGCAGAGAGAGACTTCACTCCCATTCTGCAGATGGGAAATGAGGCTCAGAGAAGAGAAGAAGAGAGTGTGTGGCAAGGAGAGCACTTCCCTCAGATCTGAGAGCAGAGGCTCCCCCACCCTCCAGCTCACTCACCATGGGGATGGGCAGGGCCACAATGAGCCCCCAGGGGTTAGGGTCAGCGGAGATGACCCTGGCTCAGTCTGTCTGTCTGGTCCCCACAGAGCTGAAACCACCAATGGGTGAGGTCGTCACCCCTACGGCCCCCCAGGAGCCTCCTGAGTCTGTGAGGCCATCCGCTCCCCCTGCAGAGCTGGAGGTGCAGGCCTCAGAGTGTGTCGTGTGCCTGGAACGGGAGGTAAGTCCGGGGCCCTCCCCACCCGCCTGCCCTGCCTGTGGCCACCCTCCTCAAATTCTGCAGGTACAGGGTTGTCTCTGAACGTGTTTTCTCCAGTTCTCTAAGTAGACTGTGCTCATCTAGAAAGAAGGCAGGAAATAAAGATGACCCCTGGTCCCATGACCCAAATATGAGCTGCGCTCACATCATTTTCCGGACCTTTTTCTTTTTGTTCCTACTTAATAAATACATTAGGAAAAAATTTCCCAAATCATGAAATATCAACAACATGATTTACCCTGCAGAGGCTTTAGAAAATCATCTTTTGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTAAAACTCCATCTCTACTAAAAATACAAAAATCAGCCAGGCGTGGTGGTGGGCGCCTGTAAGCCCAGATACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCCAAGATCCCACCACTGCACTCCAGCCTGGCAGACAGATCGAGATTCCATCTCAAAAAAAAGAAAAAATCATCTTTTAAAAATTCATTAACACTTACTCTAAAAATTACACAGAGCAGTGAATGAAATACAAATCCTCCTTTGCCTCCACTGAGGGATCCTACTTAGAAAAGCAGCCATGTTTGCAGTTTGATGATTCCAGGGTCTCCCGTTGACCTGACTCATGCCATGATATGGATGGACCTATTGGTTCCAAATATAATCCCTGTTCTGGGGCCCTTGGCATTCCAGACAGCTTTGAGCGGAGCTTGGATCAGTTCCTGAAAGCAGGAGATGCTGAGGCAAAGTGTGGTCCTGAGTCAGTGGCTGCTGCTCCGGGTTGGGATTGTTTGTAGACTGAGGAGTTCAGGGCCTGGGCAAGTGCATCAACAAGAAAGAAGCCTGAACACCCTGCGTGCCCTCCGGCAGGGGCCGGCGGAATAGGCCTCCGTCGCCTGTCCAGAGCGCAGGAATATAATCCCCAGTTTTATTTAAGAAAGAATCAGTTGGGGCATTTATATGGGTATTTATATTTTTTACAAACTATAGAGAAATAGACAGCAAACTGCTAACAGAAGGCCTAGGTTACCTGTTTCGGCCGTGCCTGTTCTGTTTCTGTGGTGGTCAAATGCCCGAAGGCCCCACTATCAGGCGTTTATGGTAAAGATGCTAAAGAATAATGAAGGGGGCCGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGGGGTCAGGAGTTCGAGACTAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTTAGCCAGGTATGGTGGTGCACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTAAACCCGGGAGGCTGAGGTTGCAGTGAGCTGAGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGACGGGCCTGGGACTCCTGGAACCCGGTAGGGCCAGCCACATGCTCCCGCTCTCCCTCCCCAGGCCCAGATGATCTTCCTCAACTGTGGCCACGTCTGCTGCTGCCAGCCACTGCGCACCTGCCCGCTGTGCCGCCAGGACATCGCCCAGCGCCTCCGCATCTACCACAGCAGCTGAGTGCTGCCCGCCCACCTGGGCCTGGTCCTAGCCCTGCCTCGGCCACTGTGAGCCCCGGGCTCCTGCTCAGCCTTGTGCCAGCCAGACTCGTATGAGGCTCCCCCCTGCCCTGGGCCCCTTCCCCACTGCCCAGGAGCCCCCATCCTAAGCTCCAAGCATGTCTGGGCCAGGCAGAGGTGCTCCTCATCCATGACACCACCAGTCTGAATGGTCCTGGGGGCTGGGGCTGGAGAGGCCGCTGCACCACCACCCGAGCCTGGGAGCCAGCGTCCCAGCCTAATCACGGATCTGCTGCCTCCCAGCTGTCTTGACTGAAGGCCACCGCCCCTGCAGGAGCTTGGGTCCTCATCTGGGGGCCATGCACAGGCCCGTCCCACCCTGCATGTGGGAAGGGAGCAGGAGGGCCTGGCTGGGTGAGGGGAGGCCTTCCTGGGAAGGCGTGTGGTGCAGGCCTGTGCTCACAGTGGCACCAGCAACCCTGGGTCTCCCTCTCTGCTGCTCCCCAGAACCCCGGGGCCCTCCTGCTCTCCACAACTGTCCCTCCTTACCCCATGTAGCTCGATCCGAAGCAGGAGTGTCAATAAACCTGTCTTCAGTGCGCTTCTGGCCTGAGTCATCACTGGGTTCTCATGGGAGCCCAGGGAGGGGAGGGGACGAGGTCTGGGGATGGGGCTCGGGCAGAGGGCAGCTCTTCTCGGGGAAGGAGCCAGGAGTGCGCCGCACCTCAGTCGAGAGGAGAGGTCAGGTAGGGCCATCTCGAATGTCGTGTTATCCCAGCGCCCCCTTCACAGGTGGAGAGACCAGGGCCCAGAGGCAGCCAGGGCCGGTGATGGCTGCGGCCTGTGCCTCCATGAGCGGAGGAGCCCTGTGTGTTCCGTCCATTATCCCAGTGAGGCAGCTGAGGCTGATGGGGGTAAATGCTCAGGGCCTTGCAACTGGGACATGGTGATGCGGGGTTTGAGGCCCAGAAGCATCCTCACCTTCAAGCCCGTGCGGTTGTGCAGGTTGGTCACTGCACAATTCTTGGAGCCATATACACTTGCACTCGCTGCAGAGGTGCACGTTGATTATGCATTTTCCGGCAGACGGCGTTGAGCCAGGTGCAGCCTCTTCCTTGGGCTCGTGGCAGGCCTGCTTGGAGCACCTGGGCTCTGCCTCCAGCTCATTCAGTGATCGTGGCCAGTGTTTGGGCTCCTTTCCCTGTGCATTCAACACAGGACGTGATGCAGCCCTGACCGGCTGGTGGCCTCCAGGGGGCGCTGAGTGCTTGCCCCAAGTACAGCGTCCGCAGAAGCAGGCAGGAGAGTTCAGGTCCTGGGGTGGCAGAACAGCCCTACGCCTGGGCCTGTTTCCCTCTCACTGAGACCATCAGTCCTGTGCACTGAACAGGGCAGGCGAATACCCTTTGTCGTGTGAGTCATTTCCCAGGCAGGAGCTGGGTGGCCTTTTCCCACCCACAGTTCCCCCTCAGTTCCCCCTCCTCCCAACACCCTCCTGGGCTCAACTTGGCCAAGAGGGGAGAGACTGAGGCAGGTGGGGCTACCTCCTGGAGCGCAGTGCTTTGCAGATCTCCTTACGCTCTCACTAGGGCCCAGGGAGGCCTCATGGAGGATCTCGAGGCTCAGTGACCTGCCAAGGACAACAGCAAGGGACAGCCGCATCCCTGGTCTCCGGCCACACAGCCCCGTGTTCTGCACCTCAGCCCTTGTTGACCGAGGGAGGCCCAGGCCCAAGCCCTAGGCCACCATGGACAGGCTGGCACCAGGGAAGCCAACATCCCCAAGGTGACTGGCTGCCACCCCACCAGTAGGGACATGTTTTTACCCATAGATGGGGCAACCCACCCCCAACAGCTGCAGGGGCTCGAGGGCTGTTCCTGTACCACATAGGCTCAGCCCAGGTCCCCACCTTCCAAGGCCTCAGTGTACACATCGGTGAAATGGTGGTGACGACTGTGNNNNNNNNNNNN | pathogenic | 150,209 |
The mutation impacting STXBP1 on chromosome 9 at position 127612441: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Developmental_and_epileptic_encephalopathy,_4'] | GCATTACCAGTGCATCCTAGGTCTCCCCATGTTTACACACTATCTCCTCCTCCAAATACACACAGGGGCTATCAATATGTTTCCTGGGCAAAAGGCAAGGCCCAGACATAGAGAGTTGACACATTAACGCCTCCTCTCTCTCTGAACCCATCTGAAGGTTCTGTTGGGGGTAGATTGGGGTGGTGGTGAGAAGATGGTCAAATCTGCTTGACTTGGGGCTGGCGACTGAAGTAGGACATGTAGCCTCTTGTCCTGGCTCAGCCACCACTGGCTTCTGTGACTTTGGAAAATTCCTCCTTAGTTCTCAGCAGGTTTTTTGTTTTTTGTTTTTTGTTTTTGCTCAGTATAAGATAATGGTTCAGAATTCAGATCCTAGAATTGGATCTTTCCTTTGTCATTTACTAATAAAGCACTTATCCACTCTGAATCTCAATTCTTCATCTGTAAAATATTATTATGCATCTTAATAATATGAAGATTAAAAACCTAGCTCAAATGTATTCCAAATATTTAATGAATGTTCACTGATTTTTACTACTACTAGCTCTCTTATTCTTTTTTATTTTTAATTGGCTCAATTTGTGTTACTTTGAAGCCAAAAGCAAGCCCTCCCCCATATTTCAAAAGTAGTATCTGAGACCATCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTGGCCAGGCGATGGTGGCGGGCGCCTGTAATCCCAGCTACTCTGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGAGCCACTGAACTCCAGCCTGGGCGAAAGTGCGAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGAAAAAGAAAAGCAGTATCTCCTATTAACAAAGAAAGTTGAGCAAAAACTGACCTGGGACCGCTTTAATAAATACGGACTCCAGGAAGGAGATACTGAGACCAGAGTCGGTCCCACAGTATATTCGTATCAGATTTGGGGCTTAGAAACTTCTAAACTCTGAGCGCCCATAAGCAAGATGAGATTCTGCCTTGTACATGGTCGTAGCTCCAGGGGACAGAATAACGGCTTACACATAAAAGTGACAGAATACTGAACATTAGCTAACGGATGCTACGCTGCCTGAAGGTAAGTCTAGTGCTATTTCCAATATCTCCGAGACTTGGTTTTTCCACCGGAAAATGGAGATTAAAAATAATGCCCATAGGTATGAGCTAAGAGGAGTGTAAACAAAACAAAATAAAAAGCAATGCCCAGTGATTGGAGGATTTGATGAGATGATGCCCGCGAGGTGCTTGGCACGGAGTTTGACACAAGAACTCAGTGTTGGTGAATGCACGAATGCAGGTACCCAGCGACAGGGAGGTGCTGTGGGTGGATTCACCCTGGCTTCGCTGCGGCTGGGAGTGGGCGCTGCTAGTAAGAGATCTCGCCTCCAAGCTCCTTCCGTGGGCAGGAAAAAACGGAAGCTCCCAGAAAGAGGAAAGACAGGACCCGAGCGGGGTTTCAGGCAGATGGAGCGCGTCGGTAGCCTGTGGCCAGGGATCCCAGCACCGACGGGAAAGAGGAGGCCTGGGTACCCTGCGCCCCGGGCGCGCGCGGCGCGTGAGGTGAGGGGGAGGGCGCGGCTCCGCACCAGCCAGCGGCCGCCTGGCGCCCAGCCGCATCTCGGGGGGCGGGGTTGAGCCTCCGGGCCGCAGTGCGATTGGCGGAGGCGAGTGGGTGACGCCAACGGCCGGCGCGAGGCCCCGCCCCCGGCTTGCCCCGCCCCCGCGCGCGCCGGCGGCGGGGCAGCCTCGCTCTGGCTCGCGCCGCGCCCCCGCGCCCAGTCCGCGCGTCAGTCGGTCCCTAGCGCGGCTGCGGGGCGGAGAGCTGCGGCTGGCCCAGCGCGCCCACCTGAGGAGGCGGCGGGGTCCGCAGGCGTCGCGGGACGAGGAGATCGGAGCCGGGAGACTCGCGCAGCGCCATGGCCCCCATTGGCCTCAAAGCTGTTGTCGGAGAGAGTAAGTGGAGCCGGGATCCTTCCAGCAGGCGGGGACTGCGGCTCCCGAGGAGCCCCGCGCGGCCCCTGCCGGCAGCGCCCAGGCCTCCGAGCGGGCTGCCGGCCCTGCGCCCCGGGCCTGAGGCTCCTGGTCCGTGGGGTCCCGTTATTCAGGCGCCGCCCGCGCGAGAGGAAGGCTTGCCCCGCTCTCCCCTCCCTCACCTCATGTTTCACCCCAGCCCTCCCCCTGCAGCCCGCCCTCCTCCCTCGCCATCCTCCTTCCTCGCGGTCCCTGTCTCCCTTTTCCCTGCATCCTCCTTCCCCTCCATCCCTCCCTCCCTCTCTTCCCTTCACCCCCATTTCTCTCCCCTCGCCCCATCCTTCCCCCTTCCTCCACCCCTCCCTCACCCCACTCTCTCCATCCCGCCTCTCCCCCATCCCACCCTCCTTCCCCCTCTTTCACCCCCAACACCCGTCCCTCTCCTTCATCTCGCCTCTACCCCCTGCAGCCCGTCACCCTCCCCCGCACCCCCATCCTCACCCCCGTTACCTTCCCCTCAGTCCCCTCTCCCCTTCCTCGTCTTTATTCCTTGAGCGCCCAGACTCCGCTCCCTTTTCCTGCAGTCCCTCCTCCTCCCCACCCTCCTGGGTGAGTCGTGACGAGCGAGATCCTGGCCTGCGTCCTCCTCCCCCGCCCCGGGCCGCGCCGCGGTCCCTGGCTGCGAGACCCACCTGGGAGACTAGGCGCAGTGGCTTGGCCTGGGGAGGAGACGCCTGTTTTCCGGAGGCTGAGCTCTGCTGGGCCGGGGCCACCTCACTCCTCCCCTTCCCGGGGCTTGGCTTCCAGGGCGGGGACTTATCAGGATCCTGAACCCCTGAAATCACTCGGGAGATGAGGAGAGCTTCGGTGTCCGCCGCCCAGCGCCGCAGTCTGCAATCTCCCTGGTTGCGGGGCTCTGCCCTGCCGTGGCCGAACGCTTCGGGAGCTCAGACCACGGTGGCAGGGAGGAAATGGTTGTTTATGGGTTTGGATGAAAGGCACCACATGAATGGATTTTTAAAAGTGGGTGGCGGCGAGTGGCGGCCGCAGCGGAGCGAGGGCTGATGGTGGGTGACATTTGCAAAACGGCATCCACAGTGCTAAATAAGATTGGTGATATGTGTGGAAAAACAGTGCCTTGTCAATATTTTGTCCATTTCTTTATAACAAAAAAAATGTGTAAGGATTGCTGTGGCTTTTGCTATCTCTTTGGGGATTAAGTGAAGATTAAAACTGGGCTTTTCTCTGTAGGAGAGGATAAGAAAGGAAAAAGAATAAAATGGTGGAAATCTAGTTTCCTTTCCAATGATTCTCTCCTATCGTAGCGCGCGCTCGCTGTGGAATGCTTTTGGCCATGTAGTGTTCTTGTTGGGCACCATAGCTGTTTTATTTCCCCTCTCCATTCTTTTCATTGATATATAGGAAATACTCCTACTGAGGAATCTAGTTGTAAAACCTTATCTCACCTATTACATCAGAAGAAAATTGTTATAAAAACTGAACACCAAATGAAACAAAATTTTAAAAGGTGCTCATCGTAACACCTTCATTGTACCCATGCAGTACGGGTTCTGATACTTGTACTCGAGATGTTTAGGGCTAGGAGGACCCATAGGGATCCTCTAATGTCAACATCTCATTTTACCCATGAATAAGAAATGGAGACTTAGAGCAGTTAAGTGACTTGACACAATCAGTGTTAATTTGGTGAAACCTGGTGGGCATTTCCTTGCAACATTAGTAAAAAATAACTTTCTTCATTATTCTGTATGTATCTTTTCTTTCCAATATCCTTTTAAAGCGTGAAATATAGAATAGAATGTTACAGGTTGTATTCTTTAAAATGTTACATTTGTACTTTGGGAGGCTGAAATGGGAGGATTGCTTAAGCCCAGGAATTCAAGATCAGCCTGGGTAACATAGTGAGACCCCATCTCTATAAATATAAAAGTAAAATAAAATGGTATATTTGAACACTACACATTGAAGATAAAATCCTCAAGTGTTATAGAAATCAAGTTTTGCATCAT | GCATTACCAGTGCATCCTAGGTCTCCCCATGTTTACACACTATCTCCTCCTCCAAATACACACAGGGGCTATCAATATGTTTCCTGGGCAAAAGGCAAGGCCCAGACATAGAGAGTTGACACATTAACGCCTCCTCTCTCTCTGAACCCATCTGAAGGTTCTGTTGGGGGTAGATTGGGGTGGTGGTGAGAAGATGGTCAAATCTGCTTGACTTGGGGCTGGCGACTGAAGTAGGACATGTAGCCTCTTGTCCTGGCTCAGCCACCACTGGCTTCTGTGACTTTGGAAAATTCCTCCTTAGTTCTCAGCAGGTTTTTTGTTTTTTGTTTTTTGTTTTTGCTCAGTATAAGATAATGGTTCAGAATTCAGATCCTAGAATTGGATCTTTCCTTTGTCATTTACTAATAAAGCACTTATCCACTCTGAATCTCAATTCTTCATCTGTAAAATATTATTATGCATCTTAATAATATGAAGATTAAAAACCTAGCTCAAATGTATTCCAAATATTTAATGAATGTTCACTGATTTTTACTACTACTAGCTCTCTTATTCTTTTTTATTTTTAATTGGCTCAATTTGTGTTACTTTGAAGCCAAAAGCAAGCCCTCCCCCATATTTCAAAAGTAGTATCTGAGACCATCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTGGCCAGGCGATGGTGGCGGGCGCCTGTAATCCCAGCTACTCTGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGAGCCACTGAACTCCAGCCTGGGCGAAAGTGCGAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGAAAAAGAAAAGCAGTATCTCCTATTAACAAAGAAAGTTGAGCAAAAACTGACCTGGGACCGCTTTAATAAATACGGACTCCAGGAAGGAGATACTGAGACCAGAGTCGGTCCCACAGTATATTCGTATCAGATTTGGGGCTTAGAAACTTCTAAACTCTGAGCGCCCATAAGCAAGATGAGATTCTGCCTTGTACATGGTCGTAGCTCCAGGGGACAGAATAACGGCTTACACATAAAAGTGACAGAATACTGAACATTAGCTAACGGATGCTACGCTGCCTGAAGGTAAGTCTAGTGCTATTTCCAATATCTCCGAGACTTGGTTTTTCCACCGGAAAATGGAGATTAAAAATAATGCCCATAGGTATGAGCTAAGAGGAGTGTAAACAAAACAAAATAAAAAGCAATGCCCAGTGATTGGAGGATTTGATGAGATGATGCCCGCGAGGTGCTTGGCACGGAGTTTGACACAAGAACTCAGTGTTGGTGAATGCACGAATGCAGGTACCCAGCGACAGGGAGGTGCTGTGGGTGGATTCACCCTGGCTTCGCTGCGGCTGGGAGTGGGCGCTGCTAGTAAGAGATCTCGCCTCCAAGCTCCTTCCGTGGGCAGGAAAAAACGGAAGCTCCCAGAAAGAGGAAAGACAGGACCCGAGCGGGGTTTCAGGCAGATGGAGCGCGTCGGTAGCCTGTGGCCAGGGATCCCAGCACCGACGGGAAAGAGGAGGCCTGGGTACCCTGCGCCCCGGGCGCGCGCGGCGCGTGAGGTGAGGGGGAGGGCGCGGCTCCGCACCAGCCAGCGGCCGCCTGGCGCCCAGCCGCATCTCGGGGGGCGGGGTTGAGCCTCCGGGCCGCAGTGCGATTGGCGGAGGCGAGTGGGTGACGCCAACGGCCGGCGCGAGGCCCCGCCCCCGGCTTGCCCCGCCCCCGCGCGCGCCGGCGGCGGGGCAGCCTCGCTCTGGCTCGCGCCGCGCCCCCGCGCCCAGTCCGCGCGTCAGTCGGTCCCTAGCGCGGCTGCGGGGCGGAGAGCTGCGGCTGGCCCAGCGCGCCCACCTGAGGAGGCGGCGGGGTCCGCAGGCGTCGCGGGACGAGGAGATCGGAGCCGGGAGACTCGCGCAGCGCCATGGCCCCCATTGGCCTCAAAGCTGTTGTCGGAGAGAGTTAAGTGGAGCCGGGATCCTTCCAGCAGGCGGGGACTGCGGCTCCCGAGGAGCCCCGCGCGGCCCCTGCCGGCAGCGCCCAGGCCTCCGAGCGGGCTGCCGGCCCTGCGCCCCGGGCCTGAGGCTCCTGGTCCGTGGGGTCCCGTTATTCAGGCGCCGCCCGCGCGAGAGGAAGGCTTGCCCCGCTCTCCCCTCCCTCACCTCATGTTTCACCCCAGCCCTCCCCCTGCAGCCCGCCCTCCTCCCTCGCCATCCTCCTTCCTCGCGGTCCCTGTCTCCCTTTTCCCTGCATCCTCCTTCCCCTCCATCCCTCCCTCCCTCTCTTCCCTTCACCCCCATTTCTCTCCCCTCGCCCCATCCTTCCCCCTTCCTCCACCCCTCCCTCACCCCACTCTCTCCATCCCGCCTCTCCCCCATCCCACCCTCCTTCCCCCTCTTTCACCCCCAACACCCGTCCCTCTCCTTCATCTCGCCTCTACCCCCTGCAGCCCGTCACCCTCCCCCGCACCCCCATCCTCACCCCCGTTACCTTCCCCTCAGTCCCCTCTCCCCTTCCTCGTCTTTATTCCTTGAGCGCCCAGACTCCGCTCCCTTTTCCTGCAGTCCCTCCTCCTCCCCACCCTCCTGGGTGAGTCGTGACGAGCGAGATCCTGGCCTGCGTCCTCCTCCCCCGCCCCGGGCCGCGCCGCGGTCCCTGGCTGCGAGACCCACCTGGGAGACTAGGCGCAGTGGCTTGGCCTGGGGAGGAGACGCCTGTTTTCCGGAGGCTGAGCTCTGCTGGGCCGGGGCCACCTCACTCCTCCCCTTCCCGGGGCTTGGCTTCCAGGGCGGGGACTTATCAGGATCCTGAACCCCTGAAATCACTCGGGAGATGAGGAGAGCTTCGGTGTCCGCCGCCCAGCGCCGCAGTCTGCAATCTCCCTGGTTGCGGGGCTCTGCCCTGCCGTGGCCGAACGCTTCGGGAGCTCAGACCACGGTGGCAGGGAGGAAATGGTTGTTTATGGGTTTGGATGAAAGGCACCACATGAATGGATTTTTAAAAGTGGGTGGCGGCGAGTGGCGGCCGCAGCGGAGCGAGGGCTGATGGTGGGTGACATTTGCAAAACGGCATCCACAGTGCTAAATAAGATTGGTGATATGTGTGGAAAAACAGTGCCTTGTCAATATTTTGTCCATTTCTTTATAACAAAAAAAATGTGTAAGGATTGCTGTGGCTTTTGCTATCTCTTTGGGGATTAAGTGAAGATTAAAACTGGGCTTTTCTCTGTAGGAGAGGATAAGAAAGGAAAAAGAATAAAATGGTGGAAATCTAGTTTCCTTTCCAATGATTCTCTCCTATCGTAGCGCGCGCTCGCTGTGGAATGCTTTTGGCCATGTAGTGTTCTTGTTGGGCACCATAGCTGTTTTATTTCCCCTCTCCATTCTTTTCATTGATATATAGGAAATACTCCTACTGAGGAATCTAGTTGTAAAACCTTATCTCACCTATTACATCAGAAGAAAATTGTTATAAAAACTGAACACCAAATGAAACAAAATTTTAAAAGGTGCTCATCGTAACACCTTCATTGTACCCATGCAGTACGGGTTCTGATACTTGTACTCGAGATGTTTAGGGCTAGGAGGACCCATAGGGATCCTCTAATGTCAACATCTCATTTTACCCATGAATAAGAAATGGAGACTTAGAGCAGTTAAGTGACTTGACACAATCAGTGTTAATTTGGTGAAACCTGGTGGGCATTTCCTTGCAACATTAGTAAAAAATAACTTTCTTCATTATTCTGTATGTATCTTTTCTTTCCAATATCCTTTTAAAGCGTGAAATATAGAATAGAATGTTACAGGTTGTATTCTTTAAAATGTTACATTTGTACTTTGGGAGGCTGAAATGGGAGGATTGCTTAAGCCCAGGAATTCAAGATCAGCCTGGGTAACATAGTGAGACCCCATCTCTATAAATATAAAAGTAAAATAAAATGGTATATTTGAACACTACACATTGAAGATAAAATCCTCAAGTGTTATAGAAATCAAGTTTTGCATCA | pathogenic | 150,221 |
Gene mutation in STXBP1 (syntaxin binding protein 1) at chromosome 9, position 127651572—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | CCGGCCGTTATCTTTTTTATTTTAAGACAGAATCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTTGGCTTATTGCAACCTCCGATTCCCTGGTTCAAGTGACTCTCCTGCCTCACCCTCCCAAGTGGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTGATTGTTTTTTAAGCACATGAGTAATACATTGAATTTTTTCTTTTCTTTTTTTTTTGAGATGGAGTCTGGCTCTGGGTCTGTCACCCAGGCTGGAGTGCAGTGGTGTAATCTTGGCTCACTGCAACCTTCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGATGGTATAACAGGTGCACACCACCATGCCCAACTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATATTGGTAAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCCCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAGAATTTTTCCTTTATACTTTTCTGTGTTTTCCAAGTTTACTGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGATTACTGTGATTCAGTGATTACTGAAGATAGTCAAAAGCAGATTTAGGAACCATCGAGCCCTAGAGAATTGTCTAACTGTCTGAACCATACATGCTGACAACAGCTCTTGCCCTTCAAGTTGCTCCAGGTGTGTGTTACTCAGGTTTACAGAGTAGCAAGAGTGGACTTTCCTATGGAGCCTCCACAGCTGGTCAGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGGTCTAGGTAACGGGGCTCATTAAAATGGTGATTTGGGGATAAGAGTGCTCTGGAGATGTGCTCAGGGTTTTGAACATTTCACAACTGCTCCTCACATCTGTTTTTAGAGCTTGAGGAGGGCTCATGTGGCCTGAGGCATTGTCACAGCCTTTACCCACTTAACTTTAGGCAGTGGTTCTCAAATCTGAGCCCTTCTGGGGGTTCATGAGGTCAAAACTATCTTCATACTAAGACCAAGATGTGGTTTGCCTCTTCATTCTCATTCTCTCACGGGGCACAGCGAAGTTTCCCAGATGTTATATGTTTCAGGACATACTGGCTGCAGAAGCAGATGGGAGAAGCCAGAAGTAGACAGGAGAATGTCTATGAGGCCAGACATTAAGGAGGGTTGCAGAAATGTAAAACAATCCCAGCTGTCTCCCTAAAAATGTTTTATTATGACAAATATATTTATTTTTCATTAAAATGCAATTAATGTAACATATGAGTTTATTATCTTAAATGAATTAATATTGTTAAAAATTTCTCAGTTTAGTTTCCAATACAATAATTAAGAGCGTAAAGAAGTTATGAGACCAAAAAGTTTGAAAACCACTGAATTAAGGAGACAGGAAGAGAACTTTCTTTTTTTTTTTCAATTTTTGAGACAGAGTCTTGCTTTGTCACCCAGGCTGAAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCAGCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCCCTCAGCCTCCCAAAGTGCTAACTTGTTCATCACTGAATCCCTAGCACCAATTACAGGTGTGAGCCACCATGCCCGGCTGAGAGCTATTTTTATGGTGGGTTGGTTATGGCTCAGTAAACCAGTTGGTGAATTGCATGATTCAGAAACACAAAGCCTAAGGTGGGAAATGACCTTATCTAACAGAGAGGTGTAGACGTCTTTGATATTACATTAATTTCCTCTCTCTCTCTCTCTTTCTCCTTTTTTAGAGATTATGCATGATGTGATAAAGAAGGTCAAGAAGAAGGGGGAATGGAAGGTGAGTAGAAAGTACAGTTAATGGGCTTAAGGTGAGTTCACATGGAAAAATCAGAAGGGGATGGAGTTGGAGGAAAGTTGTAGGCAGGAATGAGGGCTTTTGCTGTGTCCAGAGAGTACAGAATGCTCCTGGATTGGAGAAAGGTGATCTGCTCTGCCTCACATTTCATATGGTCTTGGTTAAGAATTCTGTTTGTCATAAAGCTTATCTTAAAGACCACCTGGTCAGGCAGTTAGCAGTGGAACTCTTTTGTTCAAACAAAATATTACCTGGAACCCGTTAGATAAAGCAGAGGAAGGTATAATTCTGCTGGCTCTGGGAGAGGAAGAAGAGGCCCTCTTGCCCCTTTGTGGCCATAAAGCATCTCCATGGAGTCCATGTACAGTTTGGGCTCAAAGCCCTCATCTGGTCTATCCTCATTGAACTGTAACTACATAAGACAAAAATAGTAAGCTCGTTTAATCACGTAACATTGACAGGAGTGCTGGAAACTATAGTGTACTTGAAACAAGTATTTAAGCCAATCAAACTGAGAGTGGGCCGGGTTCCTGGAATGGGTGGTACAGGAGTGGCACCTGCTGCCCCCTATGCATGAAGTCAGCATTTTAAGGACTGCTTGGTTGTCTAAGGCTGAGAATTATACTGGCCAGAAGAGTGTGCAGTTTTACTTGATTTTTTCTGCATGTTGCTGAAGAATTTATACCAACCTTTCTTGCCATCAAGGTTTCCTGCAGTCAAAAGCCCATGCAGTTTCAAGTGCATTGGGCCTAGGAACAACAGAGCTGATTAGTACAGGAGGATTTTGAAGTCTCACCCGGGGCCTTTGTTTTAACCAGCACATCTGTCCTCGCCACCCAGAAGGGGAGGCCGTGCAGTGGGCCTCCCCACCGCATACCTTTAGCATACCTCTTTAGCATACCTTTCTCACTTACCCTTCCCATCAGTGACGGGCTTGTAGACATGTGAATTTTAAACTAATCTTGAGGAAGCTGCCTTATATAATAAAAACTAATTGACCCCTGTACTGCAGCAGAAAGCTTTCTCATCCACACTATCTGCCCTGATGTGTCTTCCTCCTGTTGCCCCCTTCTCAGTTTATAGCATTACAAAAAGAGAGGATAAATAGCCTTGTTTTAACTGCCAGCTTCCTCTCCACTGTGGGCTGAATGAAGATAAGAAAGGTTAGCTGAAGAGTTGCAGGTCTGAAGCTTTTAGGCCAGGACTGGAACGTTCTTGTTCTTCCAGCCTAGACTAAGGTACACTATGTCCCAGCTGACATGTGTGTTAGTGGCACAGTTCTGATGATGCTTTTCATCAAGTCCCCACATGCCAGACCACATGTGCAGGCGCTAGTGTTCACTCTCCCCTTAAACACAAGTGCATGCCGTGAAAAAGTACTCACTAATATGATTATGTCTGAATGTTGGAGCTATAGATGATATTTCCTTTATTTATTTATTTATTTATTTATTTATTTATTATTATTATTATTATTATTATGAGATGGGATCTTGCTGTTGCCCAGGCTGGAGTACAATGGCGCGATCTCGGCTCACTGCGACCTCCGTTTCCTGGGTTCAAACATTCTCCTGCCTCAGCCTCTCACGTAGCTGGGATTACAGGTGTGAGTCACCACACCTGGCTAATTTTTGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCATGCCCGACTGATTTTTTTTCCTTTTTTAAATGGGTATTTACTTTGTCATGGGAAATAAAAACTATTTTTTTTTAAGTTTATAAAATTACATCAGTGAGAGGAAACTCTAACTCCTAGAAAGTTAGGTTAGGGTATGGGAGGTACAAGTGAGCATGTGTCCCCGTGGGCTTCTGGTCCATAGGAAATATGGTTTCTTCTGTATTCTG | CCGGCCGTTATCTTTTTTATTTTAAGACAGAATCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTTGGCTTATTGCAACCTCCGATTCCCTGGTTCAAGTGACTCTCCTGCCTCACCCTCCCAAGTGGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTGATTGTTTTTTAAGCACATGAGTAATACATTGAATTTTTTCTTTTCTTTTTTTTTTGAGATGGAGTCTGGCTCTGGGTCTGTCACCCAGGCTGGAGTGCAGTGGTGTAATCTTGGCTCACTGCAACCTTCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGATGGTATAACAGGTGCACACCACCATGCCCAACTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATATTGGTAAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCCCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAGAATTTTTCCTTTATACTTTTCTGTGTTTTCCAAGTTTACTGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGATTACTGTGATTCAGTGATTACTGAAGATAGTCAAAAGCAGATTTAGGAACCATCGAGCCCTAGAGAATTGTCTAACTGTCTGAACCATACATGCTGACAACAGCTCTTGCCCTTCAAGTTGCTCCAGGTGTGTGTTACTCAGGTTTACAGAGTAGCAAGAGTGGACTTTCCTATGGAGCCTCCACAGCTGGTCAGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGGTCTAGGTAACGGGGCTCATTAAAATGGTGATTTGGGGATAAGAGTGCTCTGGAGATGTGCTCAGGGTTTTGAACATTTCACAACTGCTCCTCACATCTGTTTTTAGAGCTTGAGGAGGGCTCATGTGGCCTGAGGCATTGTCACAGCCTTTACCCACTTAACTTTAGGCAGTGGTTCTCAAATCTGAGCCCTTCTGGGGGTTCATGAGGTCAAAACTATCTTCATACTAAGACCAAGATGTGGTTTGCCTCTTCATTCTCATTCTCTCACGGGGCACAGCGAAGTTTCCCAGATGTTATATGTTTCAGGACATACTGGCTGCAGAAGCAGATGGGAGAAGCCAGAAGTAGACAGGAGAATGTCTATGAGGCCAGACATTAAGGAGGGTTGCAGAAATGTAAAACAATCCCAGCTGTCTCCCTAAAAATGTTTTATTATGACAAATATATTTATTTTTCATTAAAATGCAATTAATGTAACATATGAGTTTATTATCTTAAATGAATTAATATTGTTAAAAATTTCTCAGTTTAGTTTCCAATACAATAATTAAGAGCGTAAAGAAGTTATGAGACCAAAAAGTTTGAAAACCACTGAATTAAGGAGACAGGAAGAGAACTTTCTTTTTTTTTTTCAATTTTTGAGACAGAGTCTTGCTTTGTCACCCAGGCTGAAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCAGCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCCCTCAGCCTCCCAAAGTGCTAACTTGTTCATCACTGAATCCCTAGCACCAATTACAGGTGTGAGCCACCATGCCCGGCTGAGAGCTATTTTTATGGTGGGTTGGTTATGGCTCAGTAAACCAGTTGGTGAATTGCATGATTCAGAAACACAAAGCCTAAGGTGGGAAATGACCTTATCTAACAGAGAGGTGTAGACGTCTTTGATATTACATTAATTTCCTCTCTCTCTCTCTTTCTCCTTTTTTAGAGATTATGCATGATGTGATAAAGAAGGTCAAGAAGAAGGGGGAATGGAAGGTGAGTAGAAAGTACAGTTAATGGGCTTAAGGTGAGTTCACATGGAAAAATCAGAAGGGGATGGAGTTGGAGGAAAGTTGTAGGCAGGAATGAGGGCTTTTGCTGTGTCCAGAGAGTACAGAATGCTCCTGGATTGGAGAAAGGTGATCTGCTCTGCCTCACATTTCATATGGTCTTGGTTAAGAATTCTGTTTGTCATAAAGCTTATCTTAAAGACCACCTGGTCAGGCAGTTAGCAGTGGAACTCTTTTGTTCAAACAAAATATTACCTGGAACCCGTTAGATAAAGCAGAGGAAGGTATAATTCTGCTGGCTCTGGGAGAGGAAGAAGAGGCCCTCTTGCCCCTTTGTGGCCATAAAGCATCTCCATGGAGTCCATGTACAGTTTGGGCTCAAAGCCCTCATCTGGTCTATCCTCATTGAACTGTAACTACATAAGACAAAAATAGTAAGCTCGTTTAATCACGTAACATTGACAGGAGTGCTGGAAACTATAGTGTACTTGAAACAAGTATTTAAGCCAATCAAACTGAGAGTGGGCCGGGTTCCTGGAATGGGTGGTACAGGAGTGGCACCTGCTGCCCCCTATGCATGAAGTCAGCATTTTAAGGACTGCTTGGTTGTCTAAGGCTGAGAATTATACTGGCCAGAAGAGTGTGCAGTTTTACTTGATTTTTTCTGCATGTTGCTGAAGAATTTATACCAACCTTTCTTGCCATCAAGGTTTCCTGCAGTCAAAAGCCCATGCAGTTTCAAGTGCATTGGGCCTAGGAACAACAGAGCTGATTAGTACAGGAGGATTTTGAAGTCTCACCCGGGGCCTTTGTTTTAACCAGCACATCTGTCCTCGCCACCCAGAAGGGGAGGCCGTGCAGTGGGCCTCCCCACCGCATACCTTTAGCATACCTCTTTAGCATACCTTTCTCACTTACCCTTCCCATCAGTGACGGGCTTGTAGACATGTGAATTTTAAACTAATCTTGAGGAAGCTGCCTTATATAATAAAAACTAATTGACCCCTGTACTGCAGCAGAAAGCTTTCTCATCCACACTATCTGCCCTGATGTGTCTTCCTCCTGTTGCCCCCTTCTCAGTTTATAGCATTACAAAAAGAGAGGATAAATAGCCTTGTTTTAACTGCCAGCTTCCTCTCCACTGTGGGCTGAATGAAGATAAGAAAGGTTAGCTGAAGAGTTGCAGGTCTGAAGCTTTTAGGCCAGGACTGGAACGTTCTTGTTCTTCCAGCCTAGACTAAGGTACACTATGTCCCAGCTGACATGTGTGTTAGTGGCACAGTTCTGATGATGCTTTTCATCAAGTCCCCACATGCCAGACCACATGTGCAGGCGCTAGTGTTCACTCTCCCCTTAAACACAAGTGCATGCCGTGAAAAAGTACTCACTAATATGATTATGTCTGAATGTTGGAGCTATAGATGATATTTCCTTTATTTATTTATTTATTTATTTATTTATTTATTATTATTATTATTATTATTATGAGATGGGATCTTGCTGTTGCCCAGGCTGGAGTACAATGGCGCGATCTCGGCTCACTGCGACCTCCGTTTCCTGGGTTCAAACATTCTCCTGCCTCAGCCTCTCACGTAGCTGGGATTACAGGTGTGAGTCACCACACCTGGCTAATTTTTGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCATGCCCGACTGATTTTTTTTCCTTTTTTAAATGGGTATTTACTTTGTCATGGGAAATAAAAACTATTTTTTTTTAAGTTTATAAAATTACATCAGTGAGAGGAAACTCTAACTCCTAGAAAGTTAGGTTAGGGTATGGGAGGTACAAGTGAGCATGTGTCCCCGTGGGCTTCTGGTCCATAGGAAATATGGTTTCTTCTGTATTCTGNN | benign | 150,223 |
Determine whether the variant at chromosome 9, position 127651587, in gene STXBP1 (syntaxin binding protein 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TTTATTTTAAGACAGAATCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTTGGCTTATTGCAACCTCCGATTCCCTGGTTCAAGTGACTCTCCTGCCTCACCCTCCCAAGTGGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTGATTGTTTTTTAAGCACATGAGTAATACATTGAATTTTTTCTTTTCTTTTTTTTTTGAGATGGAGTCTGGCTCTGGGTCTGTCACCCAGGCTGGAGTGCAGTGGTGTAATCTTGGCTCACTGCAACCTTCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGATGGTATAACAGGTGCACACCACCATGCCCAACTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATATTGGTAAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCCCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAGAATTTTTCCTTTATACTTTTCTGTGTTTTCCAAGTTTACTGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGATTACTGTGATTCAGTGATTACTGAAGATAGTCAAAAGCAGATTTAGGAACCATCGAGCCCTAGAGAATTGTCTAACTGTCTGAACCATACATGCTGACAACAGCTCTTGCCCTTCAAGTTGCTCCAGGTGTGTGTTACTCAGGTTTACAGAGTAGCAAGAGTGGACTTTCCTATGGAGCCTCCACAGCTGGTCAGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGGTCTAGGTAACGGGGCTCATTAAAATGGTGATTTGGGGATAAGAGTGCTCTGGAGATGTGCTCAGGGTTTTGAACATTTCACAACTGCTCCTCACATCTGTTTTTAGAGCTTGAGGAGGGCTCATGTGGCCTGAGGCATTGTCACAGCCTTTACCCACTTAACTTTAGGCAGTGGTTCTCAAATCTGAGCCCTTCTGGGGGTTCATGAGGTCAAAACTATCTTCATACTAAGACCAAGATGTGGTTTGCCTCTTCATTCTCATTCTCTCACGGGGCACAGCGAAGTTTCCCAGATGTTATATGTTTCAGGACATACTGGCTGCAGAAGCAGATGGGAGAAGCCAGAAGTAGACAGGAGAATGTCTATGAGGCCAGACATTAAGGAGGGTTGCAGAAATGTAAAACAATCCCAGCTGTCTCCCTAAAAATGTTTTATTATGACAAATATATTTATTTTTCATTAAAATGCAATTAATGTAACATATGAGTTTATTATCTTAAATGAATTAATATTGTTAAAAATTTCTCAGTTTAGTTTCCAATACAATAATTAAGAGCGTAAAGAAGTTATGAGACCAAAAAGTTTGAAAACCACTGAATTAAGGAGACAGGAAGAGAACTTTCTTTTTTTTTTTCAATTTTTGAGACAGAGTCTTGCTTTGTCACCCAGGCTGAAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCAGCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCCCTCAGCCTCCCAAAGTGCTAACTTGTTCATCACTGAATCCCTAGCACCAATTACAGGTGTGAGCCACCATGCCCGGCTGAGAGCTATTTTTATGGTGGGTTGGTTATGGCTCAGTAAACCAGTTGGTGAATTGCATGATTCAGAAACACAAAGCCTAAGGTGGGAAATGACCTTATCTAACAGAGAGGTGTAGACGTCTTTGATATTACATTAATTTCCTCTCTCTCTCTCTCTTTCTCCTTTTTTAGAGATTATGCATGATGTGATAAAGAAGGTCAAGAAGAAGGGGGAATGGAAGGTGAGTAGAAAGTACAGTTAATGGGCTTAAGGTGAGTTCACATGGAAAAATCAGAAGGGGATGGAGTTGGAGGAAAGTTGTAGGCAGGAATGAGGGCTTTTGCTGTGTCCAGAGAGTACAGAATGCTCCTGGATTGGAGAAAGGTGATCTGCTCTGCCTCACATTTCATATGGTCTTGGTTAAGAATTCTGTTTGTCATAAAGCTTATCTTAAAGACCACCTGGTCAGGCAGTTAGCAGTGGAACTCTTTTGTTCAAACAAAATATTACCTGGAACCCGTTAGATAAAGCAGAGGAAGGTATAATTCTGCTGGCTCTGGGAGAGGAAGAAGAGGCCCTCTTGCCCCTTTGTGGCCATAAAGCATCTCCATGGAGTCCATGTACAGTTTGGGCTCAAAGCCCTCATCTGGTCTATCCTCATTGAACTGTAACTACATAAGACAAAAATAGTAAGCTCGTTTAATCACGTAACATTGACAGGAGTGCTGGAAACTATAGTGTACTTGAAACAAGTATTTAAGCCAATCAAACTGAGAGTGGGCCGGGTTCCTGGAATGGGTGGTACAGGAGTGGCACCTGCTGCCCCCTATGCATGAAGTCAGCATTTTAAGGACTGCTTGGTTGTCTAAGGCTGAGAATTATACTGGCCAGAAGAGTGTGCAGTTTTACTTGATTTTTTCTGCATGTTGCTGAAGAATTTATACCAACCTTTCTTGCCATCAAGGTTTCCTGCAGTCAAAAGCCCATGCAGTTTCAAGTGCATTGGGCCTAGGAACAACAGAGCTGATTAGTACAGGAGGATTTTGAAGTCTCACCCGGGGCCTTTGTTTTAACCAGCACATCTGTCCTCGCCACCCAGAAGGGGAGGCCGTGCAGTGGGCCTCCCCACCGCATACCTTTAGCATACCTCTTTAGCATACCTTTCTCACTTACCCTTCCCATCAGTGACGGGCTTGTAGACATGTGAATTTTAAACTAATCTTGAGGAAGCTGCCTTATATAATAAAAACTAATTGACCCCTGTACTGCAGCAGAAAGCTTTCTCATCCACACTATCTGCCCTGATGTGTCTTCCTCCTGTTGCCCCCTTCTCAGTTTATAGCATTACAAAAAGAGAGGATAAATAGCCTTGTTTTAACTGCCAGCTTCCTCTCCACTGTGGGCTGAATGAAGATAAGAAAGGTTAGCTGAAGAGTTGCAGGTCTGAAGCTTTTAGGCCAGGACTGGAACGTTCTTGTTCTTCCAGCCTAGACTAAGGTACACTATGTCCCAGCTGACATGTGTGTTAGTGGCACAGTTCTGATGATGCTTTTCATCAAGTCCCCACATGCCAGACCACATGTGCAGGCGCTAGTGTTCACTCTCCCCTTAAACACAAGTGCATGCCGTGAAAAAGTACTCACTAATATGATTATGTCTGAATGTTGGAGCTATAGATGATATTTCCTTTATTTATTTATTTATTTATTTATTTATTTATTATTATTATTATTATTATTATGAGATGGGATCTTGCTGTTGCCCAGGCTGGAGTACAATGGCGCGATCTCGGCTCACTGCGACCTCCGTTTCCTGGGTTCAAACATTCTCCTGCCTCAGCCTCTCACGTAGCTGGGATTACAGGTGTGAGTCACCACACCTGGCTAATTTTTGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCATGCCCGACTGATTTTTTTTCCTTTTTTAAATGGGTATTTACTTTGTCATGGGAAATAAAAACTATTTTTTTTTAAGTTTATAAAATTACATCAGTGAGAGGAAACTCTAACTCCTAGAAAGTTAGGTTAGGGTATGGGAGGTACAAGTGAGCATGTGTCCCCGTGGGCTTCTGGTCCATAGGAAATATGGTTTCTTCTGTATTCTGTACTTCTGGAGCTCC | TTTATTTTAAGACAGAATCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTTGGCTTATTGCAACCTCCGATTCCCTGGTTCAAGTGACTCTCCTGCCTCACCCTCCCAAGTGGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTGATTGTTTTTTAAGCACATGAGTAATACATTGAATTTTTTCTTTTCTTTTTTTTTTGAGATGGAGTCTGGCTCTGGGTCTGTCACCCAGGCTGGAGTGCAGTGGTGTAATCTTGGCTCACTGCAACCTTCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGATGGTATAACAGGTGCACACCACCATGCCCAACTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATATTGGTAAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCCCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAGAATTTTTCCTTTATACTTTTCTGTGTTTTCCAAGTTTACTGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGATTACTGTGATTCAGTGATTACTGAAGATAGTCAAAAGCAGATTTAGGAACCATCGAGCCCTAGAGAATTGTCTAACTGTCTGAACCATACATGCTGACAACAGCTCTTGCCCTTCAAGTTGCTCCAGGTGTGTGTTACTCAGGTTTACAGAGTAGCAAGAGTGGACTTTCCTATGGAGCCTCCACAGCTGGTCAGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGGTCTAGGTAACGGGGCTCATTAAAATGGTGATTTGGGGATAAGAGTGCTCTGGAGATGTGCTCAGGGTTTTGAACATTTCACAACTGCTCCTCACATCTGTTTTTAGAGCTTGAGGAGGGCTCATGTGGCCTGAGGCATTGTCACAGCCTTTACCCACTTAACTTTAGGCAGTGGTTCTCAAATCTGAGCCCTTCTGGGGGTTCATGAGGTCAAAACTATCTTCATACTAAGACCAAGATGTGGTTTGCCTCTTCATTCTCATTCTCTCACGGGGCACAGCGAAGTTTCCCAGATGTTATATGTTTCAGGACATACTGGCTGCAGAAGCAGATGGGAGAAGCCAGAAGTAGACAGGAGAATGTCTATGAGGCCAGACATTAAGGAGGGTTGCAGAAATGTAAAACAATCCCAGCTGTCTCCCTAAAAATGTTTTATTATGACAAATATATTTATTTTTCATTAAAATGCAATTAATGTAACATATGAGTTTATTATCTTAAATGAATTAATATTGTTAAAAATTTCTCAGTTTAGTTTCCAATACAATAATTAAGAGCGTAAAGAAGTTATGAGACCAAAAAGTTTGAAAACCACTGAATTAAGGAGACAGGAAGAGAACTTTCTTTTTTTTTTTCAATTTTTGAGACAGAGTCTTGCTTTGTCACCCAGGCTGAAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCAGCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCCCTCAGCCTCCCAAAGTGCTAACTTGTTCATCACTGAATCCCTAGCACCAATTACAGGTGTGAGCCACCATGCCCGGCTGAGAGCTATTTTTATGGTGGGTTGGTTATGGCTCAGTAAACCAGTTGGTGAATTGCATGATTCAGAAACACAAAGCCTAAGGTGGGAAATGACCTTATCTAACAGAGAGGTGTAGACGTCTTTGATATTACATTAATTTCCTCTCTCTCTCTCTCTCTCCTTTTTTAGAGATTATGCATGATGTGATAAAGAAGGTCAAGAAGAAGGGGGAATGGAAGGTGAGTAGAAAGTACAGTTAATGGGCTTAAGGTGAGTTCACATGGAAAAATCAGAAGGGGATGGAGTTGGAGGAAAGTTGTAGGCAGGAATGAGGGCTTTTGCTGTGTCCAGAGAGTACAGAATGCTCCTGGATTGGAGAAAGGTGATCTGCTCTGCCTCACATTTCATATGGTCTTGGTTAAGAATTCTGTTTGTCATAAAGCTTATCTTAAAGACCACCTGGTCAGGCAGTTAGCAGTGGAACTCTTTTGTTCAAACAAAATATTACCTGGAACCCGTTAGATAAAGCAGAGGAAGGTATAATTCTGCTGGCTCTGGGAGAGGAAGAAGAGGCCCTCTTGCCCCTTTGTGGCCATAAAGCATCTCCATGGAGTCCATGTACAGTTTGGGCTCAAAGCCCTCATCTGGTCTATCCTCATTGAACTGTAACTACATAAGACAAAAATAGTAAGCTCGTTTAATCACGTAACATTGACAGGAGTGCTGGAAACTATAGTGTACTTGAAACAAGTATTTAAGCCAATCAAACTGAGAGTGGGCCGGGTTCCTGGAATGGGTGGTACAGGAGTGGCACCTGCTGCCCCCTATGCATGAAGTCAGCATTTTAAGGACTGCTTGGTTGTCTAAGGCTGAGAATTATACTGGCCAGAAGAGTGTGCAGTTTTACTTGATTTTTTCTGCATGTTGCTGAAGAATTTATACCAACCTTTCTTGCCATCAAGGTTTCCTGCAGTCAAAAGCCCATGCAGTTTCAAGTGCATTGGGCCTAGGAACAACAGAGCTGATTAGTACAGGAGGATTTTGAAGTCTCACCCGGGGCCTTTGTTTTAACCAGCACATCTGTCCTCGCCACCCAGAAGGGGAGGCCGTGCAGTGGGCCTCCCCACCGCATACCTTTAGCATACCTCTTTAGCATACCTTTCTCACTTACCCTTCCCATCAGTGACGGGCTTGTAGACATGTGAATTTTAAACTAATCTTGAGGAAGCTGCCTTATATAATAAAAACTAATTGACCCCTGTACTGCAGCAGAAAGCTTTCTCATCCACACTATCTGCCCTGATGTGTCTTCCTCCTGTTGCCCCCTTCTCAGTTTATAGCATTACAAAAAGAGAGGATAAATAGCCTTGTTTTAACTGCCAGCTTCCTCTCCACTGTGGGCTGAATGAAGATAAGAAAGGTTAGCTGAAGAGTTGCAGGTCTGAAGCTTTTAGGCCAGGACTGGAACGTTCTTGTTCTTCCAGCCTAGACTAAGGTACACTATGTCCCAGCTGACATGTGTGTTAGTGGCACAGTTCTGATGATGCTTTTCATCAAGTCCCCACATGCCAGACCACATGTGCAGGCGCTAGTGTTCACTCTCCCCTTAAACACAAGTGCATGCCGTGAAAAAGTACTCACTAATATGATTATGTCTGAATGTTGGAGCTATAGATGATATTTCCTTTATTTATTTATTTATTTATTTATTTATTTATTATTATTATTATTATTATTATGAGATGGGATCTTGCTGTTGCCCAGGCTGGAGTACAATGGCGCGATCTCGGCTCACTGCGACCTCCGTTTCCTGGGTTCAAACATTCTCCTGCCTCAGCCTCTCACGTAGCTGGGATTACAGGTGTGAGTCACCACACCTGGCTAATTTTTGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCATGCCCGACTGATTTTTTTTCCTTTTTTAAATGGGTATTTACTTTGTCATGGGAAATAAAAACTATTTTTTTTTAAGTTTATAAAATTACATCAGTGAGAGGAAACTCTAACTCCTAGAAAGTTAGGTTAGGGTATGGGAGGTACAAGTGAGCATGTGTCCCCGTGGGCTTCTGGTCCATAGGAAATATGGTTTCTTCTGTATTCTGTACTTCTGGAGCTCCNN | benign | 150,224 |
Does the genetic variant at chromosome 9, position 127651621, impacting gene STXBP1 (syntaxin binding protein 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Epileptic_encephalopathy'] | GCTGGAGTGCAGTGGCACGATCTTGGCTTATTGCAACCTCCGATTCCCTGGTTCAAGTGACTCTCCTGCCTCACCCTCCCAAGTGGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTGATTGTTTTTTAAGCACATGAGTAATACATTGAATTTTTTCTTTTCTTTTTTTTTTGAGATGGAGTCTGGCTCTGGGTCTGTCACCCAGGCTGGAGTGCAGTGGTGTAATCTTGGCTCACTGCAACCTTCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGATGGTATAACAGGTGCACACCACCATGCCCAACTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATATTGGTAAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCCCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAGAATTTTTCCTTTATACTTTTCTGTGTTTTCCAAGTTTACTGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGATTACTGTGATTCAGTGATTACTGAAGATAGTCAAAAGCAGATTTAGGAACCATCGAGCCCTAGAGAATTGTCTAACTGTCTGAACCATACATGCTGACAACAGCTCTTGCCCTTCAAGTTGCTCCAGGTGTGTGTTACTCAGGTTTACAGAGTAGCAAGAGTGGACTTTCCTATGGAGCCTCCACAGCTGGTCAGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGGTCTAGGTAACGGGGCTCATTAAAATGGTGATTTGGGGATAAGAGTGCTCTGGAGATGTGCTCAGGGTTTTGAACATTTCACAACTGCTCCTCACATCTGTTTTTAGAGCTTGAGGAGGGCTCATGTGGCCTGAGGCATTGTCACAGCCTTTACCCACTTAACTTTAGGCAGTGGTTCTCAAATCTGAGCCCTTCTGGGGGTTCATGAGGTCAAAACTATCTTCATACTAAGACCAAGATGTGGTTTGCCTCTTCATTCTCATTCTCTCACGGGGCACAGCGAAGTTTCCCAGATGTTATATGTTTCAGGACATACTGGCTGCAGAAGCAGATGGGAGAAGCCAGAAGTAGACAGGAGAATGTCTATGAGGCCAGACATTAAGGAGGGTTGCAGAAATGTAAAACAATCCCAGCTGTCTCCCTAAAAATGTTTTATTATGACAAATATATTTATTTTTCATTAAAATGCAATTAATGTAACATATGAGTTTATTATCTTAAATGAATTAATATTGTTAAAAATTTCTCAGTTTAGTTTCCAATACAATAATTAAGAGCGTAAAGAAGTTATGAGACCAAAAAGTTTGAAAACCACTGAATTAAGGAGACAGGAAGAGAACTTTCTTTTTTTTTTTCAATTTTTGAGACAGAGTCTTGCTTTGTCACCCAGGCTGAAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCAGCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCCCTCAGCCTCCCAAAGTGCTAACTTGTTCATCACTGAATCCCTAGCACCAATTACAGGTGTGAGCCACCATGCCCGGCTGAGAGCTATTTTTATGGTGGGTTGGTTATGGCTCAGTAAACCAGTTGGTGAATTGCATGATTCAGAAACACAAAGCCTAAGGTGGGAAATGACCTTATCTAACAGAGAGGTGTAGACGTCTTTGATATTACATTAATTTCCTCTCTCTCTCTCTCTTTCTCCTTTTTTAGAGATTATGCATGATGTGATAAAGAAGGTCAAGAAGAAGGGGGAATGGAAGGTGAGTAGAAAGTACAGTTAATGGGCTTAAGGTGAGTTCACATGGAAAAATCAGAAGGGGATGGAGTTGGAGGAAAGTTGTAGGCAGGAATGAGGGCTTTTGCTGTGTCCAGAGAGTACAGAATGCTCCTGGATTGGAGAAAGGTGATCTGCTCTGCCTCACATTTCATATGGTCTTGGTTAAGAATTCTGTTTGTCATAAAGCTTATCTTAAAGACCACCTGGTCAGGCAGTTAGCAGTGGAACTCTTTTGTTCAAACAAAATATTACCTGGAACCCGTTAGATAAAGCAGAGGAAGGTATAATTCTGCTGGCTCTGGGAGAGGAAGAAGAGGCCCTCTTGCCCCTTTGTGGCCATAAAGCATCTCCATGGAGTCCATGTACAGTTTGGGCTCAAAGCCCTCATCTGGTCTATCCTCATTGAACTGTAACTACATAAGACAAAAATAGTAAGCTCGTTTAATCACGTAACATTGACAGGAGTGCTGGAAACTATAGTGTACTTGAAACAAGTATTTAAGCCAATCAAACTGAGAGTGGGCCGGGTTCCTGGAATGGGTGGTACAGGAGTGGCACCTGCTGCCCCCTATGCATGAAGTCAGCATTTTAAGGACTGCTTGGTTGTCTAAGGCTGAGAATTATACTGGCCAGAAGAGTGTGCAGTTTTACTTGATTTTTTCTGCATGTTGCTGAAGAATTTATACCAACCTTTCTTGCCATCAAGGTTTCCTGCAGTCAAAAGCCCATGCAGTTTCAAGTGCATTGGGCCTAGGAACAACAGAGCTGATTAGTACAGGAGGATTTTGAAGTCTCACCCGGGGCCTTTGTTTTAACCAGCACATCTGTCCTCGCCACCCAGAAGGGGAGGCCGTGCAGTGGGCCTCCCCACCGCATACCTTTAGCATACCTCTTTAGCATACCTTTCTCACTTACCCTTCCCATCAGTGACGGGCTTGTAGACATGTGAATTTTAAACTAATCTTGAGGAAGCTGCCTTATATAATAAAAACTAATTGACCCCTGTACTGCAGCAGAAAGCTTTCTCATCCACACTATCTGCCCTGATGTGTCTTCCTCCTGTTGCCCCCTTCTCAGTTTATAGCATTACAAAAAGAGAGGATAAATAGCCTTGTTTTAACTGCCAGCTTCCTCTCCACTGTGGGCTGAATGAAGATAAGAAAGGTTAGCTGAAGAGTTGCAGGTCTGAAGCTTTTAGGCCAGGACTGGAACGTTCTTGTTCTTCCAGCCTAGACTAAGGTACACTATGTCCCAGCTGACATGTGTGTTAGTGGCACAGTTCTGATGATGCTTTTCATCAAGTCCCCACATGCCAGACCACATGTGCAGGCGCTAGTGTTCACTCTCCCCTTAAACACAAGTGCATGCCGTGAAAAAGTACTCACTAATATGATTATGTCTGAATGTTGGAGCTATAGATGATATTTCCTTTATTTATTTATTTATTTATTTATTTATTTATTATTATTATTATTATTATTATGAGATGGGATCTTGCTGTTGCCCAGGCTGGAGTACAATGGCGCGATCTCGGCTCACTGCGACCTCCGTTTCCTGGGTTCAAACATTCTCCTGCCTCAGCCTCTCACGTAGCTGGGATTACAGGTGTGAGTCACCACACCTGGCTAATTTTTGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCATGCCCGACTGATTTTTTTTCCTTTTTTAAATGGGTATTTACTTTGTCATGGGAAATAAAAACTATTTTTTTTTAAGTTTATAAAATTACATCAGTGAGAGGAAACTCTAACTCCTAGAAAGTTAGGTTAGGGTATGGGAGGTACAAGTGAGCATGTGTCCCCGTGGGCTTCTGGTCCATAGGAAATATGGTTTCTTCTGTATTCTGTACTTCTGGAGCTCCTTTTGGAGTCTGATGCGGTAAGCTGAGCGAGAAT | GCTGGAGTGCAGTGGCACGATCTTGGCTTATTGCAACCTCCGATTCCCTGGTTCAAGTGACTCTCCTGCCTCACCCTCCCAAGTGGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTGATTGTTTTTTAAGCACATGAGTAATACATTGAATTTTTTCTTTTCTTTTTTTTTTGAGATGGAGTCTGGCTCTGGGTCTGTCACCCAGGCTGGAGTGCAGTGGTGTAATCTTGGCTCACTGCAACCTTCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGATGGTATAACAGGTGCACACCACCATGCCCAACTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATATTGGTAAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCCCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAGAATTTTTCCTTTATACTTTTCTGTGTTTTCCAAGTTTACTGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGATTACTGTGATTCAGTGATTACTGAAGATAGTCAAAAGCAGATTTAGGAACCATCGAGCCCTAGAGAATTGTCTAACTGTCTGAACCATACATGCTGACAACAGCTCTTGCCCTTCAAGTTGCTCCAGGTGTGTGTTACTCAGGTTTACAGAGTAGCAAGAGTGGACTTTCCTATGGAGCCTCCACAGCTGGTCAGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGGTCTAGGTAACGGGGCTCATTAAAATGGTGATTTGGGGATAAGAGTGCTCTGGAGATGTGCTCAGGGTTTTGAACATTTCACAACTGCTCCTCACATCTGTTTTTAGAGCTTGAGGAGGGCTCATGTGGCCTGAGGCATTGTCACAGCCTTTACCCACTTAACTTTAGGCAGTGGTTCTCAAATCTGAGCCCTTCTGGGGGTTCATGAGGTCAAAACTATCTTCATACTAAGACCAAGATGTGGTTTGCCTCTTCATTCTCATTCTCTCACGGGGCACAGCGAAGTTTCCCAGATGTTATATGTTTCAGGACATACTGGCTGCAGAAGCAGATGGGAGAAGCCAGAAGTAGACAGGAGAATGTCTATGAGGCCAGACATTAAGGAGGGTTGCAGAAATGTAAAACAATCCCAGCTGTCTCCCTAAAAATGTTTTATTATGACAAATATATTTATTTTTCATTAAAATGCAATTAATGTAACATATGAGTTTATTATCTTAAATGAATTAATATTGTTAAAAATTTCTCAGTTTAGTTTCCAATACAATAATTAAGAGCGTAAAGAAGTTATGAGACCAAAAAGTTTGAAAACCACTGAATTAAGGAGACAGGAAGAGAACTTTCTTTTTTTTTTTCAATTTTTGAGACAGAGTCTTGCTTTGTCACCCAGGCTGAAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCAGCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCCCTCAGCCTCCCAAAGTGCTAACTTGTTCATCACTGAATCCCTAGCACCAATTACAGGTGTGAGCCACCATGCCCGGCTGAGAGCTATTTTTATGGTGGGTTGGTTATGGCTCAGTAAACCAGTTGGTGAATTGCATGATTCAGAAACACAAAGCCTAAGGTGGGAAATGACCTTATCTAACAGAGAGGTGTAGACGTCTTTGATATTACATTAATTTCCTCTCTCTCTCTCTCTTTCTCCTTTTTTAGAGATTATGCATGATGTGATGAAGGTCAAGAAGAAGGGGGAATGGAAGGTGAGTAGAAAGTACAGTTAATGGGCTTAAGGTGAGTTCACATGGAAAAATCAGAAGGGGATGGAGTTGGAGGAAAGTTGTAGGCAGGAATGAGGGCTTTTGCTGTGTCCAGAGAGTACAGAATGCTCCTGGATTGGAGAAAGGTGATCTGCTCTGCCTCACATTTCATATGGTCTTGGTTAAGAATTCTGTTTGTCATAAAGCTTATCTTAAAGACCACCTGGTCAGGCAGTTAGCAGTGGAACTCTTTTGTTCAAACAAAATATTACCTGGAACCCGTTAGATAAAGCAGAGGAAGGTATAATTCTGCTGGCTCTGGGAGAGGAAGAAGAGGCCCTCTTGCCCCTTTGTGGCCATAAAGCATCTCCATGGAGTCCATGTACAGTTTGGGCTCAAAGCCCTCATCTGGTCTATCCTCATTGAACTGTAACTACATAAGACAAAAATAGTAAGCTCGTTTAATCACGTAACATTGACAGGAGTGCTGGAAACTATAGTGTACTTGAAACAAGTATTTAAGCCAATCAAACTGAGAGTGGGCCGGGTTCCTGGAATGGGTGGTACAGGAGTGGCACCTGCTGCCCCCTATGCATGAAGTCAGCATTTTAAGGACTGCTTGGTTGTCTAAGGCTGAGAATTATACTGGCCAGAAGAGTGTGCAGTTTTACTTGATTTTTTCTGCATGTTGCTGAAGAATTTATACCAACCTTTCTTGCCATCAAGGTTTCCTGCAGTCAAAAGCCCATGCAGTTTCAAGTGCATTGGGCCTAGGAACAACAGAGCTGATTAGTACAGGAGGATTTTGAAGTCTCACCCGGGGCCTTTGTTTTAACCAGCACATCTGTCCTCGCCACCCAGAAGGGGAGGCCGTGCAGTGGGCCTCCCCACCGCATACCTTTAGCATACCTCTTTAGCATACCTTTCTCACTTACCCTTCCCATCAGTGACGGGCTTGTAGACATGTGAATTTTAAACTAATCTTGAGGAAGCTGCCTTATATAATAAAAACTAATTGACCCCTGTACTGCAGCAGAAAGCTTTCTCATCCACACTATCTGCCCTGATGTGTCTTCCTCCTGTTGCCCCCTTCTCAGTTTATAGCATTACAAAAAGAGAGGATAAATAGCCTTGTTTTAACTGCCAGCTTCCTCTCCACTGTGGGCTGAATGAAGATAAGAAAGGTTAGCTGAAGAGTTGCAGGTCTGAAGCTTTTAGGCCAGGACTGGAACGTTCTTGTTCTTCCAGCCTAGACTAAGGTACACTATGTCCCAGCTGACATGTGTGTTAGTGGCACAGTTCTGATGATGCTTTTCATCAAGTCCCCACATGCCAGACCACATGTGCAGGCGCTAGTGTTCACTCTCCCCTTAAACACAAGTGCATGCCGTGAAAAAGTACTCACTAATATGATTATGTCTGAATGTTGGAGCTATAGATGATATTTCCTTTATTTATTTATTTATTTATTTATTTATTTATTATTATTATTATTATTATTATGAGATGGGATCTTGCTGTTGCCCAGGCTGGAGTACAATGGCGCGATCTCGGCTCACTGCGACCTCCGTTTCCTGGGTTCAAACATTCTCCTGCCTCAGCCTCTCACGTAGCTGGGATTACAGGTGTGAGTCACCACACCTGGCTAATTTTTGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCATGCCCGACTGATTTTTTTTCCTTTTTTAAATGGGTATTTACTTTGTCATGGGAAATAAAAACTATTTTTTTTTAAGTTTATAAAATTACATCAGTGAGAGGAAACTCTAACTCCTAGAAAGTTAGGTTAGGGTATGGGAGGTACAAGTGAGCATGTGTCCCCGTGGGCTTCTGGTCCATAGGAAATATGGTTTCTTCTGTATTCTGTACTTCTGGAGCTCCTTTTGGAGTCTGATGCGGTAAGCTGAGCGAGAATNNN | pathogenic | 150,226 |
Variant at chromosome 9, position 127653767, gene STXBP1 (syntaxin binding protein 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Developmental_and_epileptic_encephalopathy,_4'] | TTGGAGGAAAGTTGTAGGCAGGAATGAGGGCTTTTGCTGTGTCCAGAGAGTACAGAATGCTCCTGGATTGGAGAAAGGTGATCTGCTCTGCCTCACATTTCATATGGTCTTGGTTAAGAATTCTGTTTGTCATAAAGCTTATCTTAAAGACCACCTGGTCAGGCAGTTAGCAGTGGAACTCTTTTGTTCAAACAAAATATTACCTGGAACCCGTTAGATAAAGCAGAGGAAGGTATAATTCTGCTGGCTCTGGGAGAGGAAGAAGAGGCCCTCTTGCCCCTTTGTGGCCATAAAGCATCTCCATGGAGTCCATGTACAGTTTGGGCTCAAAGCCCTCATCTGGTCTATCCTCATTGAACTGTAACTACATAAGACAAAAATAGTAAGCTCGTTTAATCACGTAACATTGACAGGAGTGCTGGAAACTATAGTGTACTTGAAACAAGTATTTAAGCCAATCAAACTGAGAGTGGGCCGGGTTCCTGGAATGGGTGGTACAGGAGTGGCACCTGCTGCCCCCTATGCATGAAGTCAGCATTTTAAGGACTGCTTGGTTGTCTAAGGCTGAGAATTATACTGGCCAGAAGAGTGTGCAGTTTTACTTGATTTTTTCTGCATGTTGCTGAAGAATTTATACCAACCTTTCTTGCCATCAAGGTTTCCTGCAGTCAAAAGCCCATGCAGTTTCAAGTGCATTGGGCCTAGGAACAACAGAGCTGATTAGTACAGGAGGATTTTGAAGTCTCACCCGGGGCCTTTGTTTTAACCAGCACATCTGTCCTCGCCACCCAGAAGGGGAGGCCGTGCAGTGGGCCTCCCCACCGCATACCTTTAGCATACCTCTTTAGCATACCTTTCTCACTTACCCTTCCCATCAGTGACGGGCTTGTAGACATGTGAATTTTAAACTAATCTTGAGGAAGCTGCCTTATATAATAAAAACTAATTGACCCCTGTACTGCAGCAGAAAGCTTTCTCATCCACACTATCTGCCCTGATGTGTCTTCCTCCTGTTGCCCCCTTCTCAGTTTATAGCATTACAAAAAGAGAGGATAAATAGCCTTGTTTTAACTGCCAGCTTCCTCTCCACTGTGGGCTGAATGAAGATAAGAAAGGTTAGCTGAAGAGTTGCAGGTCTGAAGCTTTTAGGCCAGGACTGGAACGTTCTTGTTCTTCCAGCCTAGACTAAGGTACACTATGTCCCAGCTGACATGTGTGTTAGTGGCACAGTTCTGATGATGCTTTTCATCAAGTCCCCACATGCCAGACCACATGTGCAGGCGCTAGTGTTCACTCTCCCCTTAAACACAAGTGCATGCCGTGAAAAAGTACTCACTAATATGATTATGTCTGAATGTTGGAGCTATAGATGATATTTCCTTTATTTATTTATTTATTTATTTATTTATTTATTATTATTATTATTATTATTATGAGATGGGATCTTGCTGTTGCCCAGGCTGGAGTACAATGGCGCGATCTCGGCTCACTGCGACCTCCGTTTCCTGGGTTCAAACATTCTCCTGCCTCAGCCTCTCACGTAGCTGGGATTACAGGTGTGAGTCACCACACCTGGCTAATTTTTGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCATGCCCGACTGATTTTTTTTCCTTTTTTAAATGGGTATTTACTTTGTCATGGGAAATAAAAACTATTTTTTTTTAAGTTTATAAAATTACATCAGTGAGAGGAAACTCTAACTCCTAGAAAGTTAGGTTAGGGTATGGGAGGTACAAGTGAGCATGTGTCCCCGTGGGCTTCTGGTCCATAGGAAATATGGTTTCTTCTGTATTCTGTACTTCTGGAGCTCCTTTTGGAGTCTGATGCGGTAAGCTGAGCGAGAATCACAGCAGATGCCATGAAGCCCATACGCTGTTCTCTTTCCTTGCAGGTGCTGGTGGTGGATCAGTTAAGCATGAGGATGCTGTCCTCCTGCTGCAAGATGACAGACATCATGACCGAGGGCATAACGAGTGAGCATGCGCTCTGCACTTGAGCAGTGCTGGAGCCTTCTCTCTGTGGCGGGCTTAGCTCTTTCCTATTCATTATTATCTCCTTTGATTTTAGATTCTTCCAGCAACCTGTGTGCTAAGACCAGAAGCTCCTGAGAGGCGCAAGGCTATCTTGTTCATCACTGAATCCCTAGCACCAAATCCAGGGCTAGATGCTCATTCAATGTCTGTTAAAGGAATGCCAAAAGAAGGGTTAAATCAAGAAAGAAAAGGCAGCCCACCCAATAGAAAAAAGTTCTGAGCAGGCACTTAACAAAAGAAGAAATCCAAATGGCCAATCAATCTATGAAAATTGTCCACTGTCATTAGTGGTCAGGGAAATGCAATTCAAACCAGAGTGAGATGCCGATATAGATTCAAAATATTAGAATATTTAATCTCTGATAATGCCAAGTGACGGTGAGGAGGTAGAAAAATGGAAACTCCTACGTGATGGAATGTCTGCTGGTGTAGCCCCTTTGAAAACCACTTGGCAGTGTCTAGTAAAGTTGAAGGTATGCATGTCCTGTGAGCCAGCAAGTCTGTGGTCAGGTGTGTGTCCTAGACAACCTCAGGTATGTGTGCCCAGGATACATGTGCAGGAATACATGTGCAGTGTTGCTCATAGGTTCCCCAAGTGGAAAATAACCAAAACGTCCATCAAGTGTAGAATGGTTAAATCAGTTGCGTGCAATTACACAGTAGAATACTCTACAGGGATGAAAATGGGCGAGCCCTGAGCGCTCACAGTAACATGAATGCATCTGATGAACAACGGTGAGCAAAGACAGCAAGACACGAAAGACCACTGATAGTGAGCCTTCATTCCACAGAGTTCAGACCGCAGAGCTCAGCTGTGTTGTTTTAAAATGCAGATGTAAGGGGTAAAACCTCAAGAGAAGAGCTCACCATTCAAGGGAGGATAATGATTCTGTTTGCGGGGAAGAGAGGAAATGGTGTTGATAGAGGGGAATGTGAGCTGGAGCCAGGGCACTTTTGTGGTGCTGATTGGGTTTCGTTTCTTAACTGGGGTAGCGCTTATTTAGACATTTGCCTTATGGTTATTTGTATGTTTATGTTTTATTCACGCTTTGGAATGTGTGCTATAACTTTTGGTGAATAATAAGGAGCAGGATTGCTGGATCACATGGTAAGTATGCTTAGTTTTGTAAGATACTGCCAAACCATTTTTCAAAGTGGCTGACCATTTTGCATTCCCAGCAGTAGTGAATGAGAATTCCTGTTGCTCCACATCCTTACCAGCATTTGGAGTTGTCAGTGTTCTGAATTTTGAGCATTCTACCAGCTGTGTGGTGGTATGGTATTGTTGTTTTAATTTGCATTTCCCTGATGACCTAGGATGTGGAGCATCTTTTCACATGCTTATTTGCCATCTGTATATTGTTTTTTGGTACAGTGTCTGTAAGGTCTTTGGCCCGTTTTTTAATTGGGTTATTTGTTTTCTTATTGTTGAATTTTAAGGGATATTTGTATATTTTGGATAACAGTTCTTTATCAGATATGTCTTTTGGAAATATTTGCCCTCAGTCTGTGGCTTGTCTTTTCATTCTCTTGATGGCATCTTGCACAGAGCAGTACTTTTTAATTTTAATGAAGTCCAGCTTATCAATTCTTGTTTTCATGGATTGTCACTTTGGTGTCATATCTAAAAAGTCATTGCCAAATCCAAGGACACCTAGCTTTTCTTTTATGTAATCCTCTAGGAATTTTATAATTTCGCATTTTACATTTAGGTCTGTGATCCATTTTGAGTTAACATTTCTAAAGGGTATAATGTATGTGTCTGTATTCATTTTGGTTGCACGTGGATGTGATTCCTTCATTTTTAAAAAACAGATCCAGTATATCTATCAGCAGAAGCACAGTCCTGTAAATGGCATACACAGTTTTTTTGTTTGTTTGTTTGTTTGAGACAGAGTCTTGCTGTCTCCCAAGCTGGAGGGCAGTGGCGCAATCTCAGCTCACCACAACCTCTGCCT | TTGGAGGAAAGTTGTAGGCAGGAATGAGGGCTTTTGCTGTGTCCAGAGAGTACAGAATGCTCCTGGATTGGAGAAAGGTGATCTGCTCTGCCTCACATTTCATATGGTCTTGGTTAAGAATTCTGTTTGTCATAAAGCTTATCTTAAAGACCACCTGGTCAGGCAGTTAGCAGTGGAACTCTTTTGTTCAAACAAAATATTACCTGGAACCCGTTAGATAAAGCAGAGGAAGGTATAATTCTGCTGGCTCTGGGAGAGGAAGAAGAGGCCCTCTTGCCCCTTTGTGGCCATAAAGCATCTCCATGGAGTCCATGTACAGTTTGGGCTCAAAGCCCTCATCTGGTCTATCCTCATTGAACTGTAACTACATAAGACAAAAATAGTAAGCTCGTTTAATCACGTAACATTGACAGGAGTGCTGGAAACTATAGTGTACTTGAAACAAGTATTTAAGCCAATCAAACTGAGAGTGGGCCGGGTTCCTGGAATGGGTGGTACAGGAGTGGCACCTGCTGCCCCCTATGCATGAAGTCAGCATTTTAAGGACTGCTTGGTTGTCTAAGGCTGAGAATTATACTGGCCAGAAGAGTGTGCAGTTTTACTTGATTTTTTCTGCATGTTGCTGAAGAATTTATACCAACCTTTCTTGCCATCAAGGTTTCCTGCAGTCAAAAGCCCATGCAGTTTCAAGTGCATTGGGCCTAGGAACAACAGAGCTGATTAGTACAGGAGGATTTTGAAGTCTCACCCGGGGCCTTTGTTTTAACCAGCACATCTGTCCTCGCCACCCAGAAGGGGAGGCCGTGCAGTGGGCCTCCCCACCGCATACCTTTAGCATACCTCTTTAGCATACCTTTCTCACTTACCCTTCCCATCAGTGACGGGCTTGTAGACATGTGAATTTTAAACTAATCTTGAGGAAGCTGCCTTATATAATAAAAACTAATTGACCCCTGTACTGCAGCAGAAAGCTTTCTCATCCACACTATCTGCCCTGATGTGTCTTCCTCCTGTTGCCCCCTTCTCAGTTTATAGCATTACAAAAAGAGAGGATAAATAGCCTTGTTTTAACTGCCAGCTTCCTCTCCACTGTGGGCTGAATGAAGATAAGAAAGGTTAGCTGAAGAGTTGCAGGTCTGAAGCTTTTAGGCCAGGACTGGAACGTTCTTGTTCTTCCAGCCTAGACTAAGGTACACTATGTCCCAGCTGACATGTGTGTTAGTGGCACAGTTCTGATGATGCTTTTCATCAAGTCCCCACATGCCAGACCACATGTGCAGGCGCTAGTGTTCACTCTCCCCTTAAACACAAGTGCATGCCGTGAAAAAGTACTCACTAATATGATTATGTCTGAATGTTGGAGCTATAGATGATATTTCCTTTATTTATTTATTTATTTATTTATTTATTTATTATTATTATTATTATTATTATGAGATGGGATCTTGCTGTTGCCCAGGCTGGAGTACAATGGCGCGATCTCGGCTCACTGCGACCTCCGTTTCCTGGGTTCAAACATTCTCCTGCCTCAGCCTCTCACGTAGCTGGGATTACAGGTGTGAGTCACCACACCTGGCTAATTTTTGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCATGCCCGACTGATTTTTTTTCCTTTTTTAAATGGGTATTTACTTTGTCATGGGAAATAAAAACTATTTTTTTTTAAGTTTATAAAATTACATCAGTGAGAGGAAACTCTAACTCCTAGAAAGTTAGGTTAGGGTATGGGAGGTACAAGTGAGCATGTGTCCCCGTGGGCTTCTGGTCCATAGGAAATATGGTTTCTTCTGTATTCTGTACTTCTGGAGCTCCTTTTGGAGTCTGATGCGGTAAGCTGAGCGAGAATCACAGCAGATGCCATGAAGCCCATACGCTGTTCTCTTTCCTTGCAGGTGCTGGTGGTGGATCAGTTAAGCATGAGGATGCTGTCCTCCTGCTGCAAGATGACATCATGACCGAGGGCATAACGAGTGAGCATGCGCTCTGCACTTGAGCAGTGCTGGAGCCTTCTCTCTGTGGCGGGCTTAGCTCTTTCCTATTCATTATTATCTCCTTTGATTTTAGATTCTTCCAGCAACCTGTGTGCTAAGACCAGAAGCTCCTGAGAGGCGCAAGGCTATCTTGTTCATCACTGAATCCCTAGCACCAAATCCAGGGCTAGATGCTCATTCAATGTCTGTTAAAGGAATGCCAAAAGAAGGGTTAAATCAAGAAAGAAAAGGCAGCCCACCCAATAGAAAAAAGTTCTGAGCAGGCACTTAACAAAAGAAGAAATCCAAATGGCCAATCAATCTATGAAAATTGTCCACTGTCATTAGTGGTCAGGGAAATGCAATTCAAACCAGAGTGAGATGCCGATATAGATTCAAAATATTAGAATATTTAATCTCTGATAATGCCAAGTGACGGTGAGGAGGTAGAAAAATGGAAACTCCTACGTGATGGAATGTCTGCTGGTGTAGCCCCTTTGAAAACCACTTGGCAGTGTCTAGTAAAGTTGAAGGTATGCATGTCCTGTGAGCCAGCAAGTCTGTGGTCAGGTGTGTGTCCTAGACAACCTCAGGTATGTGTGCCCAGGATACATGTGCAGGAATACATGTGCAGTGTTGCTCATAGGTTCCCCAAGTGGAAAATAACCAAAACGTCCATCAAGTGTAGAATGGTTAAATCAGTTGCGTGCAATTACACAGTAGAATACTCTACAGGGATGAAAATGGGCGAGCCCTGAGCGCTCACAGTAACATGAATGCATCTGATGAACAACGGTGAGCAAAGACAGCAAGACACGAAAGACCACTGATAGTGAGCCTTCATTCCACAGAGTTCAGACCGCAGAGCTCAGCTGTGTTGTTTTAAAATGCAGATGTAAGGGGTAAAACCTCAAGAGAAGAGCTCACCATTCAAGGGAGGATAATGATTCTGTTTGCGGGGAAGAGAGGAAATGGTGTTGATAGAGGGGAATGTGAGCTGGAGCCAGGGCACTTTTGTGGTGCTGATTGGGTTTCGTTTCTTAACTGGGGTAGCGCTTATTTAGACATTTGCCTTATGGTTATTTGTATGTTTATGTTTTATTCACGCTTTGGAATGTGTGCTATAACTTTTGGTGAATAATAAGGAGCAGGATTGCTGGATCACATGGTAAGTATGCTTAGTTTTGTAAGATACTGCCAAACCATTTTTCAAAGTGGCTGACCATTTTGCATTCCCAGCAGTAGTGAATGAGAATTCCTGTTGCTCCACATCCTTACCAGCATTTGGAGTTGTCAGTGTTCTGAATTTTGAGCATTCTACCAGCTGTGTGGTGGTATGGTATTGTTGTTTTAATTTGCATTTCCCTGATGACCTAGGATGTGGAGCATCTTTTCACATGCTTATTTGCCATCTGTATATTGTTTTTTGGTACAGTGTCTGTAAGGTCTTTGGCCCGTTTTTTAATTGGGTTATTTGTTTTCTTATTGTTGAATTTTAAGGGATATTTGTATATTTTGGATAACAGTTCTTTATCAGATATGTCTTTTGGAAATATTTGCCCTCAGTCTGTGGCTTGTCTTTTCATTCTCTTGATGGCATCTTGCACAGAGCAGTACTTTTTAATTTTAATGAAGTCCAGCTTATCAATTCTTGTTTTCATGGATTGTCACTTTGGTGTCATATCTAAAAAGTCATTGCCAAATCCAAGGACACCTAGCTTTTCTTTTATGTAATCCTCTAGGAATTTTATAATTTCGCATTTTACATTTAGGTCTGTGATCCATTTTGAGTTAACATTTCTAAAGGGTATAATGTATGTGTCTGTATTCATTTTGGTTGCACGTGGATGTGATTCCTTCATTTTTAAAAAACAGATCCAGTATATCTATCAGCAGAAGCACAGTCCTGTAAATGGCATACACAGTTTTTTTGTTTGTTTGTTTGTTTGAGACAGAGTCTTGCTGTCTCCCAAGCTGGAGGGCAGTGGCGCAATCTCAGCTCACCACAACCTCTGCCTNNNN | pathogenic | 150,235 |
Is the genetic change at chromosome 9, position 127660014, within gene STXBP1 (syntaxin binding protein 1) benign or pathogenic? Name the disease(s) if pathogenic. | benign | CTCCCACCTCAGCCTCCTGAGTAGCTGGAATTATAGGCACATTCCAACATGCCTGGCTAATTTTTGTAGTTTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGATGTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCCAGATTTCAGATTCTAACATCTTGGGCATGTTGAGACCATGGAATTCACTCCCAAGGAACGTGGTAACCTTAAGGAATGAGTGAATGATTCCCCCCGGTCCCCCACTGTAGATATTTATCTGCAACAGTCTGAAGGTAGCCTGTCTATATTGCTTCTGGTTTTATGGTCACCCATCATGTTTTCTTATTCACTGTGGGTTGTTTTGTTGTCTAGTTGTGGAAGATATCAATAAGCGCAGAGAGCCGCTCCCCAGCCTGGAGGCTGTGTATCTCATCACTCCATCCGAGAAGGTAAACCTTCCACCAGAGGAGGACTCTGGCTAAGGTTAGATGGACTGGCTTGGGATTTATGTGGCACAGACTGTCTGACATTGCTAGGTTAAGCACGCATTTAACACACTGCTCTGTTTAAGCATGCAATCCACAATGGGGTGGGGTCGGGGGTGGTGTTTATGCAGTGAGAAGTGATGAATGTATTAAGCGTTCTTAAACACAGCAGCTGTGCAGAAAACCAGAGCCTGTGTTCCGTGGCCCTGGATCATTCTAGTTTTCCCCCTTGCACTCCCTCTTCAGGTAGGACCCACTCTGTCTAATTAGCAGTCCACCTCCAGACTTTGGTATTTTATGCTTTCATTTTATTTTATCAATATCCAGTTACTGTTCACATTTACCTGTCTTATAATTTTGGAGGTTACTTCAAATCACTATCCAAACAAGGTCCAACTCCTTGCTTCTGGGTAATAGTTGTCTTAGGCATGTTTTCTTTTGTTTTGTTTTGTTGGTTTTGTTTTGTTTTTTGAGACGAAGTCTAGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCAGTGCAACCTCTGCCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCCCCCGCCACACCCAGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTACCTGTCTTGGTCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCTCAGCCTTTTTTGTTTTTTTGGGTTGTTGTTGTTGTTTTTTGTTTGTTTGTTTTTGTTTTTGTTTTTTTTTGTTTTTTTTTTGAGACAGGTCTCTCTCCATCACCCAGGCTGGAGTGCAGTGTTGTGATCACAGTTCACTACAGCCCCGACCTCCGGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAACAGCTGGGACTACAGGCACATGCCACCATGCCCAGCTAATTTTTGGTAGAGATGGAGATCTTGCTATGTTGCCCAGGCTAGTGGCAAACTCCTGAGCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGTTGTGAGCCACCATGCCAGCCTTAGGTGTCTTAGTCTATATAAATTTCCTCCAATTTTCACACTTTTTTTTTTCACTTTGAAAACTGGCTTACATATGAATTTCTACAGATGCAATTAAATTGCCAAAAGGTCATCAATATGAATCTCCTGGAAGGTTTCTGCCGGGTTTCCTTTTTTGTGGGTGTCTTCCTAACAACTAATTACAGTGGCTCCAAAGAACTGATACTGTCATTCCAGAATGAGCTAAGAAGGCCTTTGTTCATCTAAACTCTGAAATAGTACTAATTTTAAGTCCTCAGGACTTGGTTATGGCCAAACATGAGTGTTAGAATTATGCATCAAAAATCCCCTGATTTTGTGCAAGTGGCTTGAAGCCATTGGATTTAACTCAGTTCAGATACAGGTCCCATTTGGCTCTAGAATTGGATTCAGGTCCCTCTTTTTCCCCCCCATCCACAGTCCGTCCACTCTCTCATCAGTGACTTTAAGGACCCGCCGACTGCTAAATACCGGGCTGCACACGTCTTCTTCACTGACTGTGAGTACAACCAAGAGCTGTCCCCAGTCCCATCAGGCAGGTTAGCATTTCTGTACAGCTGGGCTGAGCCAAAACTAAGGCAGGTCAAGAGGGAAGAAATGGGTTGTTACCATGCTTGTCCCGATCTGCTGGTTTCTCTTCAGAAGATAAATTGCATAAGAGACAAAAATAAGTGCACGCAAATACAAACCCACTAGATCATGCAGTCCTTCCTGCTGAAAAATAGCACACAAGCACCTCTTCTCAGGACTGACAGGCTTGGTGCTGAGAATGACCTTCCTGAGGCTTGGCATTTCATTATGTAGACTTCCAGTTAGCACTGTATGCTGTAGTATGTTTCCATCAATTTTTCAACTACAAAGATATTCCAATCCAGTAGTCTTTGTATTAGATAGAATCTGCATCATTACCCTAGAATTAGTTTTCTTATGTTTTGAGGATTTTATGCTCAGATCCTAGCGGAGAAGCAGAGGGAGATGAATTGACCTGGACAGCTACAGAGTATAAAACAGTAAGAATTCACCCAGAGATCTTCTCTCTAGGGATAAACTCCCACAGCACTCACCACTGAGAAAGTGGAAAGGATATAGCAGAAGAAGGATTTTGGCCGGGTGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGATCACCTGAGATCAGAAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGATATGACAGCAGGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCAAGATCACGCCATTGCACTCCAGTCTGGGTGACAGAATGAGACTCCATCCAAAAAAAAAAAAAAATCCTGATAAAATGAAGAGCCCACTGTACATGTGCAGCTGTTAAATGAACCAGCAAATGGACAGGAAAGCCAACTGTCTTTTGTCATACTTGCAGCTTGTCCAGATGCCCTGTTTAATGAACTGGTAAAATCCCGAGCAGCCAAAGTCATCAAAACTCTGACGGAAATCAATATTGCATTTCTCCCGTATGAATCCCAGGTGAGCCTGAGTAGGGGGTGCAAAGGAAATCTGCATCCTGTCTTATTCTGAGAGGGTGGGGTGGGACCTACTAAAGAGTTGAGGAGGGAAGGTACCATGCTCTGAATTGCCAAATGACAGGTTAGAAGTGGATGTTTACTGAATGGAAATAGTATTCCATAGGGCCTGCCCCCTGCCCTCATCTTACTCTCCAGTTGTTTCTGACTTTGCTTCAGCCTTGTGCCTTTCTTTGTGTGCATTTCATCCTTGCTCTCAGTGTTCACTCCTGTCGGCCGACTCCTTGAATAACCACTAAGTAGCCAATCAGAAACGAGCTTGGAAGGAGAGCGAGGGTGGGGAGCAGAAGCATCCCATCTGCTGCGAAGGAGACTGTTTTTTACGTGGAGATAACCTCAGCTTGTCATGTGCTGAGAGAGCAGATGGCAGCCTTCGTCATTAGCCGTTAACACTTCAGGTGCCAAATGCCAGGCCCATAAAGCACTCCCTTGGAAACAAACAAAATTATTAAACAAATAAAGGTGAAGCTGATTGTGAGAGAACAGACACAACTTGTCTCGGTATTTTGAGAGTTGTTAAAATGTCTTCTCTTACCAGACAAGGAAACAAAAACCACAGGACTTTGATGCATTTTACGGAGCTAAAAGATGATTGTGGCATATTGGATCTTTACAGATCAGCTTCGAGACACCAGAGAGTGACCTATTCTTAGAGAAGGAGAGATGCATAATATATAGTGTGAACATTTAAAAACAGGCTTCCTTCTCACTTGGCCTAAAGCCTGTCACCCGCTTGGGGGAAGGAATTTTTTTTTCTTCTGTGTGTTCCATCCCCACCTGGATAGAACAAAATCCAGCTT | CTCCCACCTCAGCCTCCTGAGTAGCTGGAATTATAGGCACATTCCAACATGCCTGGCTAATTTTTGTAGTTTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGATGTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCCAGATTTCAGATTCTAACATCTTGGGCATGTTGAGACCATGGAATTCACTCCCAAGGAACGTGGTAACCTTAAGGAATGAGTGAATGATTCCCCCCGGTCCCCCACTGTAGATATTTATCTGCAACAGTCTGAAGGTAGCCTGTCTATATTGCTTCTGGTTTTATGGTCACCCATCATGTTTTCTTATTCACTGTGGGTTGTTTTGTTGTCTAGTTGTGGAAGATATCAATAAGCGCAGAGAGCCGCTCCCCAGCCTGGAGGCTGTGTATCTCATCACTCCATCCGAGAAGGTAAACCTTCCACCAGAGGAGGACTCTGGCTAAGGTTAGATGGACTGGCTTGGGATTTATGTGGCACAGACTGTCTGACATTGCTAGGTTAAGCACGCATTTAACACACTGCTCTGTTTAAGCATGCAATCCACAATGGGGTGGGGTCGGGGGTGGTGTTTATGCAGTGAGAAGTGATGAATGTATTAAGCGTTCTTAAACACAGCAGCTGTGCAGAAAACCAGAGCCTGTGTTCCGTGGCCCTGGATCATTCTAGTTTTCCCCCTTGCACTCCCTCTTCAGGTAGGACCCACTCTGTCTAATTAGCAGTCCACCTCCAGACTTTGGTATTTTATGCTTTCATTTTATTTTATCAATATCCAGTTACTGTTCACATTTACCTGTCTTATAATTTTGGAGGTTACTTCAAATCACTATCCAAACAAGGTCCAACTCCTTGCTTCTGGGTAATAGTTGTCTTAGGCATGTTTTCTTTTGTTTTGTTTTGTTGGTTTTGTTTTGTTTTTTGAGACGAAGTCTAGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCAGTGCAACCTCTGCCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCCCCCGCCACACCCAGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTACCTGTCTTGGTCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCTCAGCCTTTTTTGTTTTTTTGGGTTGTTGTTGTTGTTTTTTGTTTGTTTGTTTTTGTTTTTGTTTTTTTTTGTTTTTTTTTTGAGACAGGTCTCTCTCCATCACCCAGGCTGGAGTGCAGTGTTGTGATCACAGTTCACTACAGCCCCGACCTCCGGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAACAGCTGGGACTACAGGCACATGCCACCATGCCCAGCTAATTTTTGGTAGAGATGGAGATCTTGCTATGTTGCCCAGGCTAGTGGCAAACTCCTGAGCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGTTGTGAGCCACCATGCCAGCCTTAGGTGTCTTAGTCTATATAAATTTCCTCCAATTTTCACACTTTTTTTTTTCACTTTGAAAACTGGCTTACATATGAATTTCTACAGATGCAATTAAATTGCCAAAAGGTCATCAATATGAATCTCCTGGAAGGTTTCTGCCGGGTTTCCTTTTTTGTGGGTGTCTTCCTAACAACTAATTACAGTGGCTCCAAAGAACTGATACTGTCATTCCAGAATGAGCTAAGAAGGCCTTTGTTCATCTAAACTCTGAAATAGTACTAATTTTAAGTCCTCAGGACTTGGTTATGGCCAAACATGAGTGTTAGAATTATGCATCAAAAATCCCCTGATTTTGTGCAAGTGGCTTGAAGCCATTGGATTTAACTCAGTTCAGATACAGGTCCCATTTGGCTCTAGAATTGGATTCAGGTCCCTCTTTTTCCCCCCCCATCCACAGTCCGTCCACTCTCTCATCAGTGACTTTAAGGACCCGCCGACTGCTAAATACCGGGCTGCACACGTCTTCTTCACTGACTGTGAGTACAACCAAGAGCTGTCCCCAGTCCCATCAGGCAGGTTAGCATTTCTGTACAGCTGGGCTGAGCCAAAACTAAGGCAGGTCAAGAGGGAAGAAATGGGTTGTTACCATGCTTGTCCCGATCTGCTGGTTTCTCTTCAGAAGATAAATTGCATAAGAGACAAAAATAAGTGCACGCAAATACAAACCCACTAGATCATGCAGTCCTTCCTGCTGAAAAATAGCACACAAGCACCTCTTCTCAGGACTGACAGGCTTGGTGCTGAGAATGACCTTCCTGAGGCTTGGCATTTCATTATGTAGACTTCCAGTTAGCACTGTATGCTGTAGTATGTTTCCATCAATTTTTCAACTACAAAGATATTCCAATCCAGTAGTCTTTGTATTAGATAGAATCTGCATCATTACCCTAGAATTAGTTTTCTTATGTTTTGAGGATTTTATGCTCAGATCCTAGCGGAGAAGCAGAGGGAGATGAATTGACCTGGACAGCTACAGAGTATAAAACAGTAAGAATTCACCCAGAGATCTTCTCTCTAGGGATAAACTCCCACAGCACTCACCACTGAGAAAGTGGAAAGGATATAGCAGAAGAAGGATTTTGGCCGGGTGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGATCACCTGAGATCAGAAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGATATGACAGCAGGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCAAGATCACGCCATTGCACTCCAGTCTGGGTGACAGAATGAGACTCCATCCAAAAAAAAAAAAAAATCCTGATAAAATGAAGAGCCCACTGTACATGTGCAGCTGTTAAATGAACCAGCAAATGGACAGGAAAGCCAACTGTCTTTTGTCATACTTGCAGCTTGTCCAGATGCCCTGTTTAATGAACTGGTAAAATCCCGAGCAGCCAAAGTCATCAAAACTCTGACGGAAATCAATATTGCATTTCTCCCGTATGAATCCCAGGTGAGCCTGAGTAGGGGGTGCAAAGGAAATCTGCATCCTGTCTTATTCTGAGAGGGTGGGGTGGGACCTACTAAAGAGTTGAGGAGGGAAGGTACCATGCTCTGAATTGCCAAATGACAGGTTAGAAGTGGATGTTTACTGAATGGAAATAGTATTCCATAGGGCCTGCCCCCTGCCCTCATCTTACTCTCCAGTTGTTTCTGACTTTGCTTCAGCCTTGTGCCTTTCTTTGTGTGCATTTCATCCTTGCTCTCAGTGTTCACTCCTGTCGGCCGACTCCTTGAATAACCACTAAGTAGCCAATCAGAAACGAGCTTGGAAGGAGAGCGAGGGTGGGGAGCAGAAGCATCCCATCTGCTGCGAAGGAGACTGTTTTTTACGTGGAGATAACCTCAGCTTGTCATGTGCTGAGAGAGCAGATGGCAGCCTTCGTCATTAGCCGTTAACACTTCAGGTGCCAAATGCCAGGCCCATAAAGCACTCCCTTGGAAACAAACAAAATTATTAAACAAATAAAGGTGAAGCTGATTGTGAGAGAACAGACACAACTTGTCTCGGTATTTTGAGAGTTGTTAAAATGTCTTCTCTTACCAGACAAGGAAACAAAAACCACAGGACTTTGATGCATTTTACGGAGCTAAAAGATGATTGTGGCATATTGGATCTTTACAGATCAGCTTCGAGACACCAGAGAGTGACCTATTCTTAGAGAAGGAGAGATGCATAATATATAGTGTGAACATTTAAAAACAGGCTTCCTTCTCACTTGGCCTAAAGCCTGTCACCCGCTTGGGGGAAGGAATTTTTTTTTCTTCTGTGTGTTCCATCCCCACCTGGATAGAACAAAATCCAGCT | benign | 150,254 |
A mutation at chromosome position 127660014 on chromosome 9 in gene STXBP1 (syntaxin binding protein 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | CTCCCACCTCAGCCTCCTGAGTAGCTGGAATTATAGGCACATTCCAACATGCCTGGCTAATTTTTGTAGTTTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGATGTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCCAGATTTCAGATTCTAACATCTTGGGCATGTTGAGACCATGGAATTCACTCCCAAGGAACGTGGTAACCTTAAGGAATGAGTGAATGATTCCCCCCGGTCCCCCACTGTAGATATTTATCTGCAACAGTCTGAAGGTAGCCTGTCTATATTGCTTCTGGTTTTATGGTCACCCATCATGTTTTCTTATTCACTGTGGGTTGTTTTGTTGTCTAGTTGTGGAAGATATCAATAAGCGCAGAGAGCCGCTCCCCAGCCTGGAGGCTGTGTATCTCATCACTCCATCCGAGAAGGTAAACCTTCCACCAGAGGAGGACTCTGGCTAAGGTTAGATGGACTGGCTTGGGATTTATGTGGCACAGACTGTCTGACATTGCTAGGTTAAGCACGCATTTAACACACTGCTCTGTTTAAGCATGCAATCCACAATGGGGTGGGGTCGGGGGTGGTGTTTATGCAGTGAGAAGTGATGAATGTATTAAGCGTTCTTAAACACAGCAGCTGTGCAGAAAACCAGAGCCTGTGTTCCGTGGCCCTGGATCATTCTAGTTTTCCCCCTTGCACTCCCTCTTCAGGTAGGACCCACTCTGTCTAATTAGCAGTCCACCTCCAGACTTTGGTATTTTATGCTTTCATTTTATTTTATCAATATCCAGTTACTGTTCACATTTACCTGTCTTATAATTTTGGAGGTTACTTCAAATCACTATCCAAACAAGGTCCAACTCCTTGCTTCTGGGTAATAGTTGTCTTAGGCATGTTTTCTTTTGTTTTGTTTTGTTGGTTTTGTTTTGTTTTTTGAGACGAAGTCTAGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCAGTGCAACCTCTGCCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCCCCCGCCACACCCAGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTACCTGTCTTGGTCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCTCAGCCTTTTTTGTTTTTTTGGGTTGTTGTTGTTGTTTTTTGTTTGTTTGTTTTTGTTTTTGTTTTTTTTTGTTTTTTTTTTGAGACAGGTCTCTCTCCATCACCCAGGCTGGAGTGCAGTGTTGTGATCACAGTTCACTACAGCCCCGACCTCCGGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAACAGCTGGGACTACAGGCACATGCCACCATGCCCAGCTAATTTTTGGTAGAGATGGAGATCTTGCTATGTTGCCCAGGCTAGTGGCAAACTCCTGAGCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGTTGTGAGCCACCATGCCAGCCTTAGGTGTCTTAGTCTATATAAATTTCCTCCAATTTTCACACTTTTTTTTTTCACTTTGAAAACTGGCTTACATATGAATTTCTACAGATGCAATTAAATTGCCAAAAGGTCATCAATATGAATCTCCTGGAAGGTTTCTGCCGGGTTTCCTTTTTTGTGGGTGTCTTCCTAACAACTAATTACAGTGGCTCCAAAGAACTGATACTGTCATTCCAGAATGAGCTAAGAAGGCCTTTGTTCATCTAAACTCTGAAATAGTACTAATTTTAAGTCCTCAGGACTTGGTTATGGCCAAACATGAGTGTTAGAATTATGCATCAAAAATCCCCTGATTTTGTGCAAGTGGCTTGAAGCCATTGGATTTAACTCAGTTCAGATACAGGTCCCATTTGGCTCTAGAATTGGATTCAGGTCCCTCTTTTTCCCCCCCATCCACAGTCCGTCCACTCTCTCATCAGTGACTTTAAGGACCCGCCGACTGCTAAATACCGGGCTGCACACGTCTTCTTCACTGACTGTGAGTACAACCAAGAGCTGTCCCCAGTCCCATCAGGCAGGTTAGCATTTCTGTACAGCTGGGCTGAGCCAAAACTAAGGCAGGTCAAGAGGGAAGAAATGGGTTGTTACCATGCTTGTCCCGATCTGCTGGTTTCTCTTCAGAAGATAAATTGCATAAGAGACAAAAATAAGTGCACGCAAATACAAACCCACTAGATCATGCAGTCCTTCCTGCTGAAAAATAGCACACAAGCACCTCTTCTCAGGACTGACAGGCTTGGTGCTGAGAATGACCTTCCTGAGGCTTGGCATTTCATTATGTAGACTTCCAGTTAGCACTGTATGCTGTAGTATGTTTCCATCAATTTTTCAACTACAAAGATATTCCAATCCAGTAGTCTTTGTATTAGATAGAATCTGCATCATTACCCTAGAATTAGTTTTCTTATGTTTTGAGGATTTTATGCTCAGATCCTAGCGGAGAAGCAGAGGGAGATGAATTGACCTGGACAGCTACAGAGTATAAAACAGTAAGAATTCACCCAGAGATCTTCTCTCTAGGGATAAACTCCCACAGCACTCACCACTGAGAAAGTGGAAAGGATATAGCAGAAGAAGGATTTTGGCCGGGTGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGATCACCTGAGATCAGAAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGATATGACAGCAGGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCAAGATCACGCCATTGCACTCCAGTCTGGGTGACAGAATGAGACTCCATCCAAAAAAAAAAAAAAATCCTGATAAAATGAAGAGCCCACTGTACATGTGCAGCTGTTAAATGAACCAGCAAATGGACAGGAAAGCCAACTGTCTTTTGTCATACTTGCAGCTTGTCCAGATGCCCTGTTTAATGAACTGGTAAAATCCCGAGCAGCCAAAGTCATCAAAACTCTGACGGAAATCAATATTGCATTTCTCCCGTATGAATCCCAGGTGAGCCTGAGTAGGGGGTGCAAAGGAAATCTGCATCCTGTCTTATTCTGAGAGGGTGGGGTGGGACCTACTAAAGAGTTGAGGAGGGAAGGTACCATGCTCTGAATTGCCAAATGACAGGTTAGAAGTGGATGTTTACTGAATGGAAATAGTATTCCATAGGGCCTGCCCCCTGCCCTCATCTTACTCTCCAGTTGTTTCTGACTTTGCTTCAGCCTTGTGCCTTTCTTTGTGTGCATTTCATCCTTGCTCTCAGTGTTCACTCCTGTCGGCCGACTCCTTGAATAACCACTAAGTAGCCAATCAGAAACGAGCTTGGAAGGAGAGCGAGGGTGGGGAGCAGAAGCATCCCATCTGCTGCGAAGGAGACTGTTTTTTACGTGGAGATAACCTCAGCTTGTCATGTGCTGAGAGAGCAGATGGCAGCCTTCGTCATTAGCCGTTAACACTTCAGGTGCCAAATGCCAGGCCCATAAAGCACTCCCTTGGAAACAAACAAAATTATTAAACAAATAAAGGTGAAGCTGATTGTGAGAGAACAGACACAACTTGTCTCGGTATTTTGAGAGTTGTTAAAATGTCTTCTCTTACCAGACAAGGAAACAAAAACCACAGGACTTTGATGCATTTTACGGAGCTAAAAGATGATTGTGGCATATTGGATCTTTACAGATCAGCTTCGAGACACCAGAGAGTGACCTATTCTTAGAGAAGGAGAGATGCATAATATATAGTGTGAACATTTAAAAACAGGCTTCCTTCTCACTTGGCCTAAAGCCTGTCACCCGCTTGGGGGAAGGAATTTTTTTTTCTTCTGTGTGTTCCATCCCCACCTGGATAGAACAAAATCCAGCTT | CTCCCACCTCAGCCTCCTGAGTAGCTGGAATTATAGGCACATTCCAACATGCCTGGCTAATTTTTGTAGTTTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGATGTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCCAGATTTCAGATTCTAACATCTTGGGCATGTTGAGACCATGGAATTCACTCCCAAGGAACGTGGTAACCTTAAGGAATGAGTGAATGATTCCCCCCGGTCCCCCACTGTAGATATTTATCTGCAACAGTCTGAAGGTAGCCTGTCTATATTGCTTCTGGTTTTATGGTCACCCATCATGTTTTCTTATTCACTGTGGGTTGTTTTGTTGTCTAGTTGTGGAAGATATCAATAAGCGCAGAGAGCCGCTCCCCAGCCTGGAGGCTGTGTATCTCATCACTCCATCCGAGAAGGTAAACCTTCCACCAGAGGAGGACTCTGGCTAAGGTTAGATGGACTGGCTTGGGATTTATGTGGCACAGACTGTCTGACATTGCTAGGTTAAGCACGCATTTAACACACTGCTCTGTTTAAGCATGCAATCCACAATGGGGTGGGGTCGGGGGTGGTGTTTATGCAGTGAGAAGTGATGAATGTATTAAGCGTTCTTAAACACAGCAGCTGTGCAGAAAACCAGAGCCTGTGTTCCGTGGCCCTGGATCATTCTAGTTTTCCCCCTTGCACTCCCTCTTCAGGTAGGACCCACTCTGTCTAATTAGCAGTCCACCTCCAGACTTTGGTATTTTATGCTTTCATTTTATTTTATCAATATCCAGTTACTGTTCACATTTACCTGTCTTATAATTTTGGAGGTTACTTCAAATCACTATCCAAACAAGGTCCAACTCCTTGCTTCTGGGTAATAGTTGTCTTAGGCATGTTTTCTTTTGTTTTGTTTTGTTGGTTTTGTTTTGTTTTTTGAGACGAAGTCTAGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCAGTGCAACCTCTGCCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCCCCCGCCACACCCAGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTACCTGTCTTGGTCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCTCAGCCTTTTTTGTTTTTTTGGGTTGTTGTTGTTGTTTTTTGTTTGTTTGTTTTTGTTTTTGTTTTTTTTTGTTTTTTTTTTGAGACAGGTCTCTCTCCATCACCCAGGCTGGAGTGCAGTGTTGTGATCACAGTTCACTACAGCCCCGACCTCCGGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAACAGCTGGGACTACAGGCACATGCCACCATGCCCAGCTAATTTTTGGTAGAGATGGAGATCTTGCTATGTTGCCCAGGCTAGTGGCAAACTCCTGAGCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGTTGTGAGCCACCATGCCAGCCTTAGGTGTCTTAGTCTATATAAATTTCCTCCAATTTTCACACTTTTTTTTTTCACTTTGAAAACTGGCTTACATATGAATTTCTACAGATGCAATTAAATTGCCAAAAGGTCATCAATATGAATCTCCTGGAAGGTTTCTGCCGGGTTTCCTTTTTTGTGGGTGTCTTCCTAACAACTAATTACAGTGGCTCCAAAGAACTGATACTGTCATTCCAGAATGAGCTAAGAAGGCCTTTGTTCATCTAAACTCTGAAATAGTACTAATTTTAAGTCCTCAGGACTTGGTTATGGCCAAACATGAGTGTTAGAATTATGCATCAAAAATCCCCTGATTTTGTGCAAGTGGCTTGAAGCCATTGGATTTAACTCAGTTCAGATACAGGTCCCATTTGGCTCTAGAATTGGATTCAGGTCCCTCTTTTTCCCCCCATCCACAGTCCGTCCACTCTCTCATCAGTGACTTTAAGGACCCGCCGACTGCTAAATACCGGGCTGCACACGTCTTCTTCACTGACTGTGAGTACAACCAAGAGCTGTCCCCAGTCCCATCAGGCAGGTTAGCATTTCTGTACAGCTGGGCTGAGCCAAAACTAAGGCAGGTCAAGAGGGAAGAAATGGGTTGTTACCATGCTTGTCCCGATCTGCTGGTTTCTCTTCAGAAGATAAATTGCATAAGAGACAAAAATAAGTGCACGCAAATACAAACCCACTAGATCATGCAGTCCTTCCTGCTGAAAAATAGCACACAAGCACCTCTTCTCAGGACTGACAGGCTTGGTGCTGAGAATGACCTTCCTGAGGCTTGGCATTTCATTATGTAGACTTCCAGTTAGCACTGTATGCTGTAGTATGTTTCCATCAATTTTTCAACTACAAAGATATTCCAATCCAGTAGTCTTTGTATTAGATAGAATCTGCATCATTACCCTAGAATTAGTTTTCTTATGTTTTGAGGATTTTATGCTCAGATCCTAGCGGAGAAGCAGAGGGAGATGAATTGACCTGGACAGCTACAGAGTATAAAACAGTAAGAATTCACCCAGAGATCTTCTCTCTAGGGATAAACTCCCACAGCACTCACCACTGAGAAAGTGGAAAGGATATAGCAGAAGAAGGATTTTGGCCGGGTGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGATCACCTGAGATCAGAAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGATATGACAGCAGGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCAAGATCACGCCATTGCACTCCAGTCTGGGTGACAGAATGAGACTCCATCCAAAAAAAAAAAAAAATCCTGATAAAATGAAGAGCCCACTGTACATGTGCAGCTGTTAAATGAACCAGCAAATGGACAGGAAAGCCAACTGTCTTTTGTCATACTTGCAGCTTGTCCAGATGCCCTGTTTAATGAACTGGTAAAATCCCGAGCAGCCAAAGTCATCAAAACTCTGACGGAAATCAATATTGCATTTCTCCCGTATGAATCCCAGGTGAGCCTGAGTAGGGGGTGCAAAGGAAATCTGCATCCTGTCTTATTCTGAGAGGGTGGGGTGGGACCTACTAAAGAGTTGAGGAGGGAAGGTACCATGCTCTGAATTGCCAAATGACAGGTTAGAAGTGGATGTTTACTGAATGGAAATAGTATTCCATAGGGCCTGCCCCCTGCCCTCATCTTACTCTCCAGTTGTTTCTGACTTTGCTTCAGCCTTGTGCCTTTCTTTGTGTGCATTTCATCCTTGCTCTCAGTGTTCACTCCTGTCGGCCGACTCCTTGAATAACCACTAAGTAGCCAATCAGAAACGAGCTTGGAAGGAGAGCGAGGGTGGGGAGCAGAAGCATCCCATCTGCTGCGAAGGAGACTGTTTTTTACGTGGAGATAACCTCAGCTTGTCATGTGCTGAGAGAGCAGATGGCAGCCTTCGTCATTAGCCGTTAACACTTCAGGTGCCAAATGCCAGGCCCATAAAGCACTCCCTTGGAAACAAACAAAATTATTAAACAAATAAAGGTGAAGCTGATTGTGAGAGAACAGACACAACTTGTCTCGGTATTTTGAGAGTTGTTAAAATGTCTTCTCTTACCAGACAAGGAAACAAAAACCACAGGACTTTGATGCATTTTACGGAGCTAAAAGATGATTGTGGCATATTGGATCTTTACAGATCAGCTTCGAGACACCAGAGAGTGACCTATTCTTAGAGAAGGAGAGATGCATAATATATAGTGTGAACATTTAAAAACAGGCTTCCTTCTCACTTGGCCTAAAGCCTGTCACCCGCTTGGGGGAAGGAATTTTTTTTTCTTCTGTGTGTTCCATCCCCACCTGGATAGAACAAAATCCAGCTTN | benign | 150,255 |
Benign or pathogenic: chromosome 9, position 127660037, gene STXBP1 (syntaxin binding protein 1) variant? Disease(s) if pathogenic? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_4', 'Infantile_epilepsy_syndrome'] | GCTGGAATTATAGGCACATTCCAACATGCCTGGCTAATTTTTGTAGTTTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGATGTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCCAGATTTCAGATTCTAACATCTTGGGCATGTTGAGACCATGGAATTCACTCCCAAGGAACGTGGTAACCTTAAGGAATGAGTGAATGATTCCCCCCGGTCCCCCACTGTAGATATTTATCTGCAACAGTCTGAAGGTAGCCTGTCTATATTGCTTCTGGTTTTATGGTCACCCATCATGTTTTCTTATTCACTGTGGGTTGTTTTGTTGTCTAGTTGTGGAAGATATCAATAAGCGCAGAGAGCCGCTCCCCAGCCTGGAGGCTGTGTATCTCATCACTCCATCCGAGAAGGTAAACCTTCCACCAGAGGAGGACTCTGGCTAAGGTTAGATGGACTGGCTTGGGATTTATGTGGCACAGACTGTCTGACATTGCTAGGTTAAGCACGCATTTAACACACTGCTCTGTTTAAGCATGCAATCCACAATGGGGTGGGGTCGGGGGTGGTGTTTATGCAGTGAGAAGTGATGAATGTATTAAGCGTTCTTAAACACAGCAGCTGTGCAGAAAACCAGAGCCTGTGTTCCGTGGCCCTGGATCATTCTAGTTTTCCCCCTTGCACTCCCTCTTCAGGTAGGACCCACTCTGTCTAATTAGCAGTCCACCTCCAGACTTTGGTATTTTATGCTTTCATTTTATTTTATCAATATCCAGTTACTGTTCACATTTACCTGTCTTATAATTTTGGAGGTTACTTCAAATCACTATCCAAACAAGGTCCAACTCCTTGCTTCTGGGTAATAGTTGTCTTAGGCATGTTTTCTTTTGTTTTGTTTTGTTGGTTTTGTTTTGTTTTTTGAGACGAAGTCTAGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCAGTGCAACCTCTGCCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCCCCCGCCACACCCAGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTACCTGTCTTGGTCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCTCAGCCTTTTTTGTTTTTTTGGGTTGTTGTTGTTGTTTTTTGTTTGTTTGTTTTTGTTTTTGTTTTTTTTTGTTTTTTTTTTGAGACAGGTCTCTCTCCATCACCCAGGCTGGAGTGCAGTGTTGTGATCACAGTTCACTACAGCCCCGACCTCCGGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAACAGCTGGGACTACAGGCACATGCCACCATGCCCAGCTAATTTTTGGTAGAGATGGAGATCTTGCTATGTTGCCCAGGCTAGTGGCAAACTCCTGAGCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGTTGTGAGCCACCATGCCAGCCTTAGGTGTCTTAGTCTATATAAATTTCCTCCAATTTTCACACTTTTTTTTTTCACTTTGAAAACTGGCTTACATATGAATTTCTACAGATGCAATTAAATTGCCAAAAGGTCATCAATATGAATCTCCTGGAAGGTTTCTGCCGGGTTTCCTTTTTTGTGGGTGTCTTCCTAACAACTAATTACAGTGGCTCCAAAGAACTGATACTGTCATTCCAGAATGAGCTAAGAAGGCCTTTGTTCATCTAAACTCTGAAATAGTACTAATTTTAAGTCCTCAGGACTTGGTTATGGCCAAACATGAGTGTTAGAATTATGCATCAAAAATCCCCTGATTTTGTGCAAGTGGCTTGAAGCCATTGGATTTAACTCAGTTCAGATACAGGTCCCATTTGGCTCTAGAATTGGATTCAGGTCCCTCTTTTTCCCCCCCATCCACAGTCCGTCCACTCTCTCATCAGTGACTTTAAGGACCCGCCGACTGCTAAATACCGGGCTGCACACGTCTTCTTCACTGACTGTGAGTACAACCAAGAGCTGTCCCCAGTCCCATCAGGCAGGTTAGCATTTCTGTACAGCTGGGCTGAGCCAAAACTAAGGCAGGTCAAGAGGGAAGAAATGGGTTGTTACCATGCTTGTCCCGATCTGCTGGTTTCTCTTCAGAAGATAAATTGCATAAGAGACAAAAATAAGTGCACGCAAATACAAACCCACTAGATCATGCAGTCCTTCCTGCTGAAAAATAGCACACAAGCACCTCTTCTCAGGACTGACAGGCTTGGTGCTGAGAATGACCTTCCTGAGGCTTGGCATTTCATTATGTAGACTTCCAGTTAGCACTGTATGCTGTAGTATGTTTCCATCAATTTTTCAACTACAAAGATATTCCAATCCAGTAGTCTTTGTATTAGATAGAATCTGCATCATTACCCTAGAATTAGTTTTCTTATGTTTTGAGGATTTTATGCTCAGATCCTAGCGGAGAAGCAGAGGGAGATGAATTGACCTGGACAGCTACAGAGTATAAAACAGTAAGAATTCACCCAGAGATCTTCTCTCTAGGGATAAACTCCCACAGCACTCACCACTGAGAAAGTGGAAAGGATATAGCAGAAGAAGGATTTTGGCCGGGTGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGATCACCTGAGATCAGAAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGATATGACAGCAGGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCAAGATCACGCCATTGCACTCCAGTCTGGGTGACAGAATGAGACTCCATCCAAAAAAAAAAAAAAATCCTGATAAAATGAAGAGCCCACTGTACATGTGCAGCTGTTAAATGAACCAGCAAATGGACAGGAAAGCCAACTGTCTTTTGTCATACTTGCAGCTTGTCCAGATGCCCTGTTTAATGAACTGGTAAAATCCCGAGCAGCCAAAGTCATCAAAACTCTGACGGAAATCAATATTGCATTTCTCCCGTATGAATCCCAGGTGAGCCTGAGTAGGGGGTGCAAAGGAAATCTGCATCCTGTCTTATTCTGAGAGGGTGGGGTGGGACCTACTAAAGAGTTGAGGAGGGAAGGTACCATGCTCTGAATTGCCAAATGACAGGTTAGAAGTGGATGTTTACTGAATGGAAATAGTATTCCATAGGGCCTGCCCCCTGCCCTCATCTTACTCTCCAGTTGTTTCTGACTTTGCTTCAGCCTTGTGCCTTTCTTTGTGTGCATTTCATCCTTGCTCTCAGTGTTCACTCCTGTCGGCCGACTCCTTGAATAACCACTAAGTAGCCAATCAGAAACGAGCTTGGAAGGAGAGCGAGGGTGGGGAGCAGAAGCATCCCATCTGCTGCGAAGGAGACTGTTTTTTACGTGGAGATAACCTCAGCTTGTCATGTGCTGAGAGAGCAGATGGCAGCCTTCGTCATTAGCCGTTAACACTTCAGGTGCCAAATGCCAGGCCCATAAAGCACTCCCTTGGAAACAAACAAAATTATTAAACAAATAAAGGTGAAGCTGATTGTGAGAGAACAGACACAACTTGTCTCGGTATTTTGAGAGTTGTTAAAATGTCTTCTCTTACCAGACAAGGAAACAAAAACCACAGGACTTTGATGCATTTTACGGAGCTAAAAGATGATTGTGGCATATTGGATCTTTACAGATCAGCTTCGAGACACCAGAGAGTGACCTATTCTTAGAGAAGGAGAGATGCATAATATATAGTGTGAACATTTAAAAACAGGCTTCCTTCTCACTTGGCCTAAAGCCTGTCACCCGCTTGGGGGAAGGAATTTTTTTTTCTTCTGTGTGTTCCATCCCCACCTGGATAGAACAAAATCCAGCTTTAGCATATTGAACAATCTTATAT | GCTGGAATTATAGGCACATTCCAACATGCCTGGCTAATTTTTGTAGTTTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGATGTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCCAGATTTCAGATTCTAACATCTTGGGCATGTTGAGACCATGGAATTCACTCCCAAGGAACGTGGTAACCTTAAGGAATGAGTGAATGATTCCCCCCGGTCCCCCACTGTAGATATTTATCTGCAACAGTCTGAAGGTAGCCTGTCTATATTGCTTCTGGTTTTATGGTCACCCATCATGTTTTCTTATTCACTGTGGGTTGTTTTGTTGTCTAGTTGTGGAAGATATCAATAAGCGCAGAGAGCCGCTCCCCAGCCTGGAGGCTGTGTATCTCATCACTCCATCCGAGAAGGTAAACCTTCCACCAGAGGAGGACTCTGGCTAAGGTTAGATGGACTGGCTTGGGATTTATGTGGCACAGACTGTCTGACATTGCTAGGTTAAGCACGCATTTAACACACTGCTCTGTTTAAGCATGCAATCCACAATGGGGTGGGGTCGGGGGTGGTGTTTATGCAGTGAGAAGTGATGAATGTATTAAGCGTTCTTAAACACAGCAGCTGTGCAGAAAACCAGAGCCTGTGTTCCGTGGCCCTGGATCATTCTAGTTTTCCCCCTTGCACTCCCTCTTCAGGTAGGACCCACTCTGTCTAATTAGCAGTCCACCTCCAGACTTTGGTATTTTATGCTTTCATTTTATTTTATCAATATCCAGTTACTGTTCACATTTACCTGTCTTATAATTTTGGAGGTTACTTCAAATCACTATCCAAACAAGGTCCAACTCCTTGCTTCTGGGTAATAGTTGTCTTAGGCATGTTTTCTTTTGTTTTGTTTTGTTGGTTTTGTTTTGTTTTTTGAGACGAAGTCTAGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCAGTGCAACCTCTGCCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCCCCCGCCACACCCAGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTACCTGTCTTGGTCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCTCAGCCTTTTTTGTTTTTTTGGGTTGTTGTTGTTGTTTTTTGTTTGTTTGTTTTTGTTTTTGTTTTTTTTTGTTTTTTTTTTGAGACAGGTCTCTCTCCATCACCCAGGCTGGAGTGCAGTGTTGTGATCACAGTTCACTACAGCCCCGACCTCCGGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAACAGCTGGGACTACAGGCACATGCCACCATGCCCAGCTAATTTTTGGTAGAGATGGAGATCTTGCTATGTTGCCCAGGCTAGTGGCAAACTCCTGAGCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGTTGTGAGCCACCATGCCAGCCTTAGGTGTCTTAGTCTATATAAATTTCCTCCAATTTTCACACTTTTTTTTTTCACTTTGAAAACTGGCTTACATATGAATTTCTACAGATGCAATTAAATTGCCAAAAGGTCATCAATATGAATCTCCTGGAAGGTTTCTGCCGGGTTTCCTTTTTTGTGGGTGTCTTCCTAACAACTAATTACAGTGGCTCCAAAGAACTGATACTGTCATTCCAGAATGAGCTAAGAAGGCCTTTGTTCATCTAAACTCTGAAATAGTACTAATTTTAAGTCCTCAGGACTTGGTTATGGCCAAACATGAGTGTTAGAATTATGCATCAAAAATCCCCTGATTTTGTGCAAGTGGCTTGAAGCCATTGGATTTAACTCAGTTCAGATACAGGTCCCATTTGGCTCTAGAATTGGATTCAGGTCCCTCTTTTTCCCCCCCATCCACAGTCCGTCCACTCTCTCTCATCAGTGACTTTAAGGACCCGCCGACTGCTAAATACCGGGCTGCACACGTCTTCTTCACTGACTGTGAGTACAACCAAGAGCTGTCCCCAGTCCCATCAGGCAGGTTAGCATTTCTGTACAGCTGGGCTGAGCCAAAACTAAGGCAGGTCAAGAGGGAAGAAATGGGTTGTTACCATGCTTGTCCCGATCTGCTGGTTTCTCTTCAGAAGATAAATTGCATAAGAGACAAAAATAAGTGCACGCAAATACAAACCCACTAGATCATGCAGTCCTTCCTGCTGAAAAATAGCACACAAGCACCTCTTCTCAGGACTGACAGGCTTGGTGCTGAGAATGACCTTCCTGAGGCTTGGCATTTCATTATGTAGACTTCCAGTTAGCACTGTATGCTGTAGTATGTTTCCATCAATTTTTCAACTACAAAGATATTCCAATCCAGTAGTCTTTGTATTAGATAGAATCTGCATCATTACCCTAGAATTAGTTTTCTTATGTTTTGAGGATTTTATGCTCAGATCCTAGCGGAGAAGCAGAGGGAGATGAATTGACCTGGACAGCTACAGAGTATAAAACAGTAAGAATTCACCCAGAGATCTTCTCTCTAGGGATAAACTCCCACAGCACTCACCACTGAGAAAGTGGAAAGGATATAGCAGAAGAAGGATTTTGGCCGGGTGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGATCACCTGAGATCAGAAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGATATGACAGCAGGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCAAGATCACGCCATTGCACTCCAGTCTGGGTGACAGAATGAGACTCCATCCAAAAAAAAAAAAAAATCCTGATAAAATGAAGAGCCCACTGTACATGTGCAGCTGTTAAATGAACCAGCAAATGGACAGGAAAGCCAACTGTCTTTTGTCATACTTGCAGCTTGTCCAGATGCCCTGTTTAATGAACTGGTAAAATCCCGAGCAGCCAAAGTCATCAAAACTCTGACGGAAATCAATATTGCATTTCTCCCGTATGAATCCCAGGTGAGCCTGAGTAGGGGGTGCAAAGGAAATCTGCATCCTGTCTTATTCTGAGAGGGTGGGGTGGGACCTACTAAAGAGTTGAGGAGGGAAGGTACCATGCTCTGAATTGCCAAATGACAGGTTAGAAGTGGATGTTTACTGAATGGAAATAGTATTCCATAGGGCCTGCCCCCTGCCCTCATCTTACTCTCCAGTTGTTTCTGACTTTGCTTCAGCCTTGTGCCTTTCTTTGTGTGCATTTCATCCTTGCTCTCAGTGTTCACTCCTGTCGGCCGACTCCTTGAATAACCACTAAGTAGCCAATCAGAAACGAGCTTGGAAGGAGAGCGAGGGTGGGGAGCAGAAGCATCCCATCTGCTGCGAAGGAGACTGTTTTTTACGTGGAGATAACCTCAGCTTGTCATGTGCTGAGAGAGCAGATGGCAGCCTTCGTCATTAGCCGTTAACACTTCAGGTGCCAAATGCCAGGCCCATAAAGCACTCCCTTGGAAACAAACAAAATTATTAAACAAATAAAGGTGAAGCTGATTGTGAGAGAACAGACACAACTTGTCTCGGTATTTTGAGAGTTGTTAAAATGTCTTCTCTTACCAGACAAGGAAACAAAAACCACAGGACTTTGATGCATTTTACGGAGCTAAAAGATGATTGTGGCATATTGGATCTTTACAGATCAGCTTCGAGACACCAGAGAGTGACCTATTCTTAGAGAAGGAGAGATGCATAATATATAGTGTGAACATTTAAAAACAGGCTTCCTTCTCACTTGGCCTAAAGCCTGTCACCCGCTTGGGGGAAGGAATTTTTTTTTCTTCTGTGTGTTCCATCCCCACCTGGATAGAACAAAATCCAGCTTTAGCATATTGAACAATCTTAT | pathogenic | 150,258 |
The genetic variant at chromosome 9, position 127660037, affecting gene STXBP1 (syntaxin binding protein 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_4'] | GCTGGAATTATAGGCACATTCCAACATGCCTGGCTAATTTTTGTAGTTTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGATGTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCCAGATTTCAGATTCTAACATCTTGGGCATGTTGAGACCATGGAATTCACTCCCAAGGAACGTGGTAACCTTAAGGAATGAGTGAATGATTCCCCCCGGTCCCCCACTGTAGATATTTATCTGCAACAGTCTGAAGGTAGCCTGTCTATATTGCTTCTGGTTTTATGGTCACCCATCATGTTTTCTTATTCACTGTGGGTTGTTTTGTTGTCTAGTTGTGGAAGATATCAATAAGCGCAGAGAGCCGCTCCCCAGCCTGGAGGCTGTGTATCTCATCACTCCATCCGAGAAGGTAAACCTTCCACCAGAGGAGGACTCTGGCTAAGGTTAGATGGACTGGCTTGGGATTTATGTGGCACAGACTGTCTGACATTGCTAGGTTAAGCACGCATTTAACACACTGCTCTGTTTAAGCATGCAATCCACAATGGGGTGGGGTCGGGGGTGGTGTTTATGCAGTGAGAAGTGATGAATGTATTAAGCGTTCTTAAACACAGCAGCTGTGCAGAAAACCAGAGCCTGTGTTCCGTGGCCCTGGATCATTCTAGTTTTCCCCCTTGCACTCCCTCTTCAGGTAGGACCCACTCTGTCTAATTAGCAGTCCACCTCCAGACTTTGGTATTTTATGCTTTCATTTTATTTTATCAATATCCAGTTACTGTTCACATTTACCTGTCTTATAATTTTGGAGGTTACTTCAAATCACTATCCAAACAAGGTCCAACTCCTTGCTTCTGGGTAATAGTTGTCTTAGGCATGTTTTCTTTTGTTTTGTTTTGTTGGTTTTGTTTTGTTTTTTGAGACGAAGTCTAGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCAGTGCAACCTCTGCCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCCCCCGCCACACCCAGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTACCTGTCTTGGTCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCTCAGCCTTTTTTGTTTTTTTGGGTTGTTGTTGTTGTTTTTTGTTTGTTTGTTTTTGTTTTTGTTTTTTTTTGTTTTTTTTTTGAGACAGGTCTCTCTCCATCACCCAGGCTGGAGTGCAGTGTTGTGATCACAGTTCACTACAGCCCCGACCTCCGGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAACAGCTGGGACTACAGGCACATGCCACCATGCCCAGCTAATTTTTGGTAGAGATGGAGATCTTGCTATGTTGCCCAGGCTAGTGGCAAACTCCTGAGCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGTTGTGAGCCACCATGCCAGCCTTAGGTGTCTTAGTCTATATAAATTTCCTCCAATTTTCACACTTTTTTTTTTCACTTTGAAAACTGGCTTACATATGAATTTCTACAGATGCAATTAAATTGCCAAAAGGTCATCAATATGAATCTCCTGGAAGGTTTCTGCCGGGTTTCCTTTTTTGTGGGTGTCTTCCTAACAACTAATTACAGTGGCTCCAAAGAACTGATACTGTCATTCCAGAATGAGCTAAGAAGGCCTTTGTTCATCTAAACTCTGAAATAGTACTAATTTTAAGTCCTCAGGACTTGGTTATGGCCAAACATGAGTGTTAGAATTATGCATCAAAAATCCCCTGATTTTGTGCAAGTGGCTTGAAGCCATTGGATTTAACTCAGTTCAGATACAGGTCCCATTTGGCTCTAGAATTGGATTCAGGTCCCTCTTTTTCCCCCCCATCCACAGTCCGTCCACTCTCTCATCAGTGACTTTAAGGACCCGCCGACTGCTAAATACCGGGCTGCACACGTCTTCTTCACTGACTGTGAGTACAACCAAGAGCTGTCCCCAGTCCCATCAGGCAGGTTAGCATTTCTGTACAGCTGGGCTGAGCCAAAACTAAGGCAGGTCAAGAGGGAAGAAATGGGTTGTTACCATGCTTGTCCCGATCTGCTGGTTTCTCTTCAGAAGATAAATTGCATAAGAGACAAAAATAAGTGCACGCAAATACAAACCCACTAGATCATGCAGTCCTTCCTGCTGAAAAATAGCACACAAGCACCTCTTCTCAGGACTGACAGGCTTGGTGCTGAGAATGACCTTCCTGAGGCTTGGCATTTCATTATGTAGACTTCCAGTTAGCACTGTATGCTGTAGTATGTTTCCATCAATTTTTCAACTACAAAGATATTCCAATCCAGTAGTCTTTGTATTAGATAGAATCTGCATCATTACCCTAGAATTAGTTTTCTTATGTTTTGAGGATTTTATGCTCAGATCCTAGCGGAGAAGCAGAGGGAGATGAATTGACCTGGACAGCTACAGAGTATAAAACAGTAAGAATTCACCCAGAGATCTTCTCTCTAGGGATAAACTCCCACAGCACTCACCACTGAGAAAGTGGAAAGGATATAGCAGAAGAAGGATTTTGGCCGGGTGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGATCACCTGAGATCAGAAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGATATGACAGCAGGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCAAGATCACGCCATTGCACTCCAGTCTGGGTGACAGAATGAGACTCCATCCAAAAAAAAAAAAAAATCCTGATAAAATGAAGAGCCCACTGTACATGTGCAGCTGTTAAATGAACCAGCAAATGGACAGGAAAGCCAACTGTCTTTTGTCATACTTGCAGCTTGTCCAGATGCCCTGTTTAATGAACTGGTAAAATCCCGAGCAGCCAAAGTCATCAAAACTCTGACGGAAATCAATATTGCATTTCTCCCGTATGAATCCCAGGTGAGCCTGAGTAGGGGGTGCAAAGGAAATCTGCATCCTGTCTTATTCTGAGAGGGTGGGGTGGGACCTACTAAAGAGTTGAGGAGGGAAGGTACCATGCTCTGAATTGCCAAATGACAGGTTAGAAGTGGATGTTTACTGAATGGAAATAGTATTCCATAGGGCCTGCCCCCTGCCCTCATCTTACTCTCCAGTTGTTTCTGACTTTGCTTCAGCCTTGTGCCTTTCTTTGTGTGCATTTCATCCTTGCTCTCAGTGTTCACTCCTGTCGGCCGACTCCTTGAATAACCACTAAGTAGCCAATCAGAAACGAGCTTGGAAGGAGAGCGAGGGTGGGGAGCAGAAGCATCCCATCTGCTGCGAAGGAGACTGTTTTTTACGTGGAGATAACCTCAGCTTGTCATGTGCTGAGAGAGCAGATGGCAGCCTTCGTCATTAGCCGTTAACACTTCAGGTGCCAAATGCCAGGCCCATAAAGCACTCCCTTGGAAACAAACAAAATTATTAAACAAATAAAGGTGAAGCTGATTGTGAGAGAACAGACACAACTTGTCTCGGTATTTTGAGAGTTGTTAAAATGTCTTCTCTTACCAGACAAGGAAACAAAAACCACAGGACTTTGATGCATTTTACGGAGCTAAAAGATGATTGTGGCATATTGGATCTTTACAGATCAGCTTCGAGACACCAGAGAGTGACCTATTCTTAGAGAAGGAGAGATGCATAATATATAGTGTGAACATTTAAAAACAGGCTTCCTTCTCACTTGGCCTAAAGCCTGTCACCCGCTTGGGGGAAGGAATTTTTTTTTCTTCTGTGTGTTCCATCCCCACCTGGATAGAACAAAATCCAGCTTTAGCATATTGAACAATCTTATAT | GCTGGAATTATAGGCACATTCCAACATGCCTGGCTAATTTTTGTAGTTTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGATGTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCCAGATTTCAGATTCTAACATCTTGGGCATGTTGAGACCATGGAATTCACTCCCAAGGAACGTGGTAACCTTAAGGAATGAGTGAATGATTCCCCCCGGTCCCCCACTGTAGATATTTATCTGCAACAGTCTGAAGGTAGCCTGTCTATATTGCTTCTGGTTTTATGGTCACCCATCATGTTTTCTTATTCACTGTGGGTTGTTTTGTTGTCTAGTTGTGGAAGATATCAATAAGCGCAGAGAGCCGCTCCCCAGCCTGGAGGCTGTGTATCTCATCACTCCATCCGAGAAGGTAAACCTTCCACCAGAGGAGGACTCTGGCTAAGGTTAGATGGACTGGCTTGGGATTTATGTGGCACAGACTGTCTGACATTGCTAGGTTAAGCACGCATTTAACACACTGCTCTGTTTAAGCATGCAATCCACAATGGGGTGGGGTCGGGGGTGGTGTTTATGCAGTGAGAAGTGATGAATGTATTAAGCGTTCTTAAACACAGCAGCTGTGCAGAAAACCAGAGCCTGTGTTCCGTGGCCCTGGATCATTCTAGTTTTCCCCCTTGCACTCCCTCTTCAGGTAGGACCCACTCTGTCTAATTAGCAGTCCACCTCCAGACTTTGGTATTTTATGCTTTCATTTTATTTTATCAATATCCAGTTACTGTTCACATTTACCTGTCTTATAATTTTGGAGGTTACTTCAAATCACTATCCAAACAAGGTCCAACTCCTTGCTTCTGGGTAATAGTTGTCTTAGGCATGTTTTCTTTTGTTTTGTTTTGTTGGTTTTGTTTTGTTTTTTGAGACGAAGTCTAGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCAGTGCAACCTCTGCCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCCCCCGCCACACCCAGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTACCTGTCTTGGTCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCTCAGCCTTTTTTGTTTTTTTGGGTTGTTGTTGTTGTTTTTTGTTTGTTTGTTTTTGTTTTTGTTTTTTTTTGTTTTTTTTTTGAGACAGGTCTCTCTCCATCACCCAGGCTGGAGTGCAGTGTTGTGATCACAGTTCACTACAGCCCCGACCTCCGGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAACAGCTGGGACTACAGGCACATGCCACCATGCCCAGCTAATTTTTGGTAGAGATGGAGATCTTGCTATGTTGCCCAGGCTAGTGGCAAACTCCTGAGCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGTTGTGAGCCACCATGCCAGCCTTAGGTGTCTTAGTCTATATAAATTTCCTCCAATTTTCACACTTTTTTTTTTCACTTTGAAAACTGGCTTACATATGAATTTCTACAGATGCAATTAAATTGCCAAAAGGTCATCAATATGAATCTCCTGGAAGGTTTCTGCCGGGTTTCCTTTTTTGTGGGTGTCTTCCTAACAACTAATTACAGTGGCTCCAAAGAACTGATACTGTCATTCCAGAATGAGCTAAGAAGGCCTTTGTTCATCTAAACTCTGAAATAGTACTAATTTTAAGTCCTCAGGACTTGGTTATGGCCAAACATGAGTGTTAGAATTATGCATCAAAAATCCCCTGATTTTGTGCAAGTGGCTTGAAGCCATTGGATTTAACTCAGTTCAGATACAGGTCCCATTTGGCTCTAGAATTGGATTCAGGTCCCTCTTTTTCCCCCCCATCCACAGTCCGTCCACTCTCATCAGTGACTTTAAGGACCCGCCGACTGCTAAATACCGGGCTGCACACGTCTTCTTCACTGACTGTGAGTACAACCAAGAGCTGTCCCCAGTCCCATCAGGCAGGTTAGCATTTCTGTACAGCTGGGCTGAGCCAAAACTAAGGCAGGTCAAGAGGGAAGAAATGGGTTGTTACCATGCTTGTCCCGATCTGCTGGTTTCTCTTCAGAAGATAAATTGCATAAGAGACAAAAATAAGTGCACGCAAATACAAACCCACTAGATCATGCAGTCCTTCCTGCTGAAAAATAGCACACAAGCACCTCTTCTCAGGACTGACAGGCTTGGTGCTGAGAATGACCTTCCTGAGGCTTGGCATTTCATTATGTAGACTTCCAGTTAGCACTGTATGCTGTAGTATGTTTCCATCAATTTTTCAACTACAAAGATATTCCAATCCAGTAGTCTTTGTATTAGATAGAATCTGCATCATTACCCTAGAATTAGTTTTCTTATGTTTTGAGGATTTTATGCTCAGATCCTAGCGGAGAAGCAGAGGGAGATGAATTGACCTGGACAGCTACAGAGTATAAAACAGTAAGAATTCACCCAGAGATCTTCTCTCTAGGGATAAACTCCCACAGCACTCACCACTGAGAAAGTGGAAAGGATATAGCAGAAGAAGGATTTTGGCCGGGTGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGATCACCTGAGATCAGAAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGATATGACAGCAGGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCAAGATCACGCCATTGCACTCCAGTCTGGGTGACAGAATGAGACTCCATCCAAAAAAAAAAAAAAATCCTGATAAAATGAAGAGCCCACTGTACATGTGCAGCTGTTAAATGAACCAGCAAATGGACAGGAAAGCCAACTGTCTTTTGTCATACTTGCAGCTTGTCCAGATGCCCTGTTTAATGAACTGGTAAAATCCCGAGCAGCCAAAGTCATCAAAACTCTGACGGAAATCAATATTGCATTTCTCCCGTATGAATCCCAGGTGAGCCTGAGTAGGGGGTGCAAAGGAAATCTGCATCCTGTCTTATTCTGAGAGGGTGGGGTGGGACCTACTAAAGAGTTGAGGAGGGAAGGTACCATGCTCTGAATTGCCAAATGACAGGTTAGAAGTGGATGTTTACTGAATGGAAATAGTATTCCATAGGGCCTGCCCCCTGCCCTCATCTTACTCTCCAGTTGTTTCTGACTTTGCTTCAGCCTTGTGCCTTTCTTTGTGTGCATTTCATCCTTGCTCTCAGTGTTCACTCCTGTCGGCCGACTCCTTGAATAACCACTAAGTAGCCAATCAGAAACGAGCTTGGAAGGAGAGCGAGGGTGGGGAGCAGAAGCATCCCATCTGCTGCGAAGGAGACTGTTTTTTACGTGGAGATAACCTCAGCTTGTCATGTGCTGAGAGAGCAGATGGCAGCCTTCGTCATTAGCCGTTAACACTTCAGGTGCCAAATGCCAGGCCCATAAAGCACTCCCTTGGAAACAAACAAAATTATTAAACAAATAAAGGTGAAGCTGATTGTGAGAGAACAGACACAACTTGTCTCGGTATTTTGAGAGTTGTTAAAATGTCTTCTCTTACCAGACAAGGAAACAAAAACCACAGGACTTTGATGCATTTTACGGAGCTAAAAGATGATTGTGGCATATTGGATCTTTACAGATCAGCTTCGAGACACCAGAGAGTGACCTATTCTTAGAGAAGGAGAGATGCATAATATATAGTGTGAACATTTAAAAACAGGCTTCCTTCTCACTTGGCCTAAAGCCTGTCACCCGCTTGGGGGAAGGAATTTTTTTTTCTTCTGTGTGTTCCATCCCCACCTGGATAGAACAAAATCCAGCTTTAGCATATTGAACAATCTTATATNN | pathogenic | 150,259 |
Is chromosome 9, position 127660107, gene STXBP1 (syntaxin binding protein 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_4'] | CCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGATGTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCCAGATTTCAGATTCTAACATCTTGGGCATGTTGAGACCATGGAATTCACTCCCAAGGAACGTGGTAACCTTAAGGAATGAGTGAATGATTCCCCCCGGTCCCCCACTGTAGATATTTATCTGCAACAGTCTGAAGGTAGCCTGTCTATATTGCTTCTGGTTTTATGGTCACCCATCATGTTTTCTTATTCACTGTGGGTTGTTTTGTTGTCTAGTTGTGGAAGATATCAATAAGCGCAGAGAGCCGCTCCCCAGCCTGGAGGCTGTGTATCTCATCACTCCATCCGAGAAGGTAAACCTTCCACCAGAGGAGGACTCTGGCTAAGGTTAGATGGACTGGCTTGGGATTTATGTGGCACAGACTGTCTGACATTGCTAGGTTAAGCACGCATTTAACACACTGCTCTGTTTAAGCATGCAATCCACAATGGGGTGGGGTCGGGGGTGGTGTTTATGCAGTGAGAAGTGATGAATGTATTAAGCGTTCTTAAACACAGCAGCTGTGCAGAAAACCAGAGCCTGTGTTCCGTGGCCCTGGATCATTCTAGTTTTCCCCCTTGCACTCCCTCTTCAGGTAGGACCCACTCTGTCTAATTAGCAGTCCACCTCCAGACTTTGGTATTTTATGCTTTCATTTTATTTTATCAATATCCAGTTACTGTTCACATTTACCTGTCTTATAATTTTGGAGGTTACTTCAAATCACTATCCAAACAAGGTCCAACTCCTTGCTTCTGGGTAATAGTTGTCTTAGGCATGTTTTCTTTTGTTTTGTTTTGTTGGTTTTGTTTTGTTTTTTGAGACGAAGTCTAGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCAGTGCAACCTCTGCCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCCCCCGCCACACCCAGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTACCTGTCTTGGTCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCTCAGCCTTTTTTGTTTTTTTGGGTTGTTGTTGTTGTTTTTTGTTTGTTTGTTTTTGTTTTTGTTTTTTTTTGTTTTTTTTTTGAGACAGGTCTCTCTCCATCACCCAGGCTGGAGTGCAGTGTTGTGATCACAGTTCACTACAGCCCCGACCTCCGGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAACAGCTGGGACTACAGGCACATGCCACCATGCCCAGCTAATTTTTGGTAGAGATGGAGATCTTGCTATGTTGCCCAGGCTAGTGGCAAACTCCTGAGCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGTTGTGAGCCACCATGCCAGCCTTAGGTGTCTTAGTCTATATAAATTTCCTCCAATTTTCACACTTTTTTTTTTCACTTTGAAAACTGGCTTACATATGAATTTCTACAGATGCAATTAAATTGCCAAAAGGTCATCAATATGAATCTCCTGGAAGGTTTCTGCCGGGTTTCCTTTTTTGTGGGTGTCTTCCTAACAACTAATTACAGTGGCTCCAAAGAACTGATACTGTCATTCCAGAATGAGCTAAGAAGGCCTTTGTTCATCTAAACTCTGAAATAGTACTAATTTTAAGTCCTCAGGACTTGGTTATGGCCAAACATGAGTGTTAGAATTATGCATCAAAAATCCCCTGATTTTGTGCAAGTGGCTTGAAGCCATTGGATTTAACTCAGTTCAGATACAGGTCCCATTTGGCTCTAGAATTGGATTCAGGTCCCTCTTTTTCCCCCCCATCCACAGTCCGTCCACTCTCTCATCAGTGACTTTAAGGACCCGCCGACTGCTAAATACCGGGCTGCACACGTCTTCTTCACTGACTGTGAGTACAACCAAGAGCTGTCCCCAGTCCCATCAGGCAGGTTAGCATTTCTGTACAGCTGGGCTGAGCCAAAACTAAGGCAGGTCAAGAGGGAAGAAATGGGTTGTTACCATGCTTGTCCCGATCTGCTGGTTTCTCTTCAGAAGATAAATTGCATAAGAGACAAAAATAAGTGCACGCAAATACAAACCCACTAGATCATGCAGTCCTTCCTGCTGAAAAATAGCACACAAGCACCTCTTCTCAGGACTGACAGGCTTGGTGCTGAGAATGACCTTCCTGAGGCTTGGCATTTCATTATGTAGACTTCCAGTTAGCACTGTATGCTGTAGTATGTTTCCATCAATTTTTCAACTACAAAGATATTCCAATCCAGTAGTCTTTGTATTAGATAGAATCTGCATCATTACCCTAGAATTAGTTTTCTTATGTTTTGAGGATTTTATGCTCAGATCCTAGCGGAGAAGCAGAGGGAGATGAATTGACCTGGACAGCTACAGAGTATAAAACAGTAAGAATTCACCCAGAGATCTTCTCTCTAGGGATAAACTCCCACAGCACTCACCACTGAGAAAGTGGAAAGGATATAGCAGAAGAAGGATTTTGGCCGGGTGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGATCACCTGAGATCAGAAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGATATGACAGCAGGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCAAGATCACGCCATTGCACTCCAGTCTGGGTGACAGAATGAGACTCCATCCAAAAAAAAAAAAAAATCCTGATAAAATGAAGAGCCCACTGTACATGTGCAGCTGTTAAATGAACCAGCAAATGGACAGGAAAGCCAACTGTCTTTTGTCATACTTGCAGCTTGTCCAGATGCCCTGTTTAATGAACTGGTAAAATCCCGAGCAGCCAAAGTCATCAAAACTCTGACGGAAATCAATATTGCATTTCTCCCGTATGAATCCCAGGTGAGCCTGAGTAGGGGGTGCAAAGGAAATCTGCATCCTGTCTTATTCTGAGAGGGTGGGGTGGGACCTACTAAAGAGTTGAGGAGGGAAGGTACCATGCTCTGAATTGCCAAATGACAGGTTAGAAGTGGATGTTTACTGAATGGAAATAGTATTCCATAGGGCCTGCCCCCTGCCCTCATCTTACTCTCCAGTTGTTTCTGACTTTGCTTCAGCCTTGTGCCTTTCTTTGTGTGCATTTCATCCTTGCTCTCAGTGTTCACTCCTGTCGGCCGACTCCTTGAATAACCACTAAGTAGCCAATCAGAAACGAGCTTGGAAGGAGAGCGAGGGTGGGGAGCAGAAGCATCCCATCTGCTGCGAAGGAGACTGTTTTTTACGTGGAGATAACCTCAGCTTGTCATGTGCTGAGAGAGCAGATGGCAGCCTTCGTCATTAGCCGTTAACACTTCAGGTGCCAAATGCCAGGCCCATAAAGCACTCCCTTGGAAACAAACAAAATTATTAAACAAATAAAGGTGAAGCTGATTGTGAGAGAACAGACACAACTTGTCTCGGTATTTTGAGAGTTGTTAAAATGTCTTCTCTTACCAGACAAGGAAACAAAAACCACAGGACTTTGATGCATTTTACGGAGCTAAAAGATGATTGTGGCATATTGGATCTTTACAGATCAGCTTCGAGACACCAGAGAGTGACCTATTCTTAGAGAAGGAGAGATGCATAATATATAGTGTGAACATTTAAAAACAGGCTTCCTTCTCACTTGGCCTAAAGCCTGTCACCCGCTTGGGGGAAGGAATTTTTTTTTCTTCTGTGTGTTCCATCCCCACCTGGATAGAACAAAATCCAGCTTTAGCATATTGAACAATCTTATATTTCAGAAATTTTAAGAAAGTAAACTATTTTTCGAATACCATTTTTTAAGATTAAGGTAGTTTATATAAAC | CCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGATGTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCCAGATTTCAGATTCTAACATCTTGGGCATGTTGAGACCATGGAATTCACTCCCAAGGAACGTGGTAACCTTAAGGAATGAGTGAATGATTCCCCCCGGTCCCCCACTGTAGATATTTATCTGCAACAGTCTGAAGGTAGCCTGTCTATATTGCTTCTGGTTTTATGGTCACCCATCATGTTTTCTTATTCACTGTGGGTTGTTTTGTTGTCTAGTTGTGGAAGATATCAATAAGCGCAGAGAGCCGCTCCCCAGCCTGGAGGCTGTGTATCTCATCACTCCATCCGAGAAGGTAAACCTTCCACCAGAGGAGGACTCTGGCTAAGGTTAGATGGACTGGCTTGGGATTTATGTGGCACAGACTGTCTGACATTGCTAGGTTAAGCACGCATTTAACACACTGCTCTGTTTAAGCATGCAATCCACAATGGGGTGGGGTCGGGGGTGGTGTTTATGCAGTGAGAAGTGATGAATGTATTAAGCGTTCTTAAACACAGCAGCTGTGCAGAAAACCAGAGCCTGTGTTCCGTGGCCCTGGATCATTCTAGTTTTCCCCCTTGCACTCCCTCTTCAGGTAGGACCCACTCTGTCTAATTAGCAGTCCACCTCCAGACTTTGGTATTTTATGCTTTCATTTTATTTTATCAATATCCAGTTACTGTTCACATTTACCTGTCTTATAATTTTGGAGGTTACTTCAAATCACTATCCAAACAAGGTCCAACTCCTTGCTTCTGGGTAATAGTTGTCTTAGGCATGTTTTCTTTTGTTTTGTTTTGTTGGTTTTGTTTTGTTTTTTGAGACGAAGTCTAGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCAGTGCAACCTCTGCCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCCCCCGCCACACCCAGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTACCTGTCTTGGTCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCTCAGCCTTTTTTGTTTTTTTGGGTTGTTGTTGTTGTTTTTTGTTTGTTTGTTTTTGTTTTTGTTTTTTTTTGTTTTTTTTTTGAGACAGGTCTCTCTCCATCACCCAGGCTGGAGTGCAGTGTTGTGATCACAGTTCACTACAGCCCCGACCTCCGGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAACAGCTGGGACTACAGGCACATGCCACCATGCCCAGCTAATTTTTGGTAGAGATGGAGATCTTGCTATGTTGCCCAGGCTAGTGGCAAACTCCTGAGCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGTTGTGAGCCACCATGCCAGCCTTAGGTGTCTTAGTCTATATAAATTTCCTCCAATTTTCACACTTTTTTTTTTCACTTTGAAAACTGGCTTACATATGAATTTCTACAGATGCAATTAAATTGCCAAAAGGTCATCAATATGAATCTCCTGGAAGGTTTCTGCCGGGTTTCCTTTTTTGTGGGTGTCTTCCTAACAACTAATTACAGTGGCTCCAAAGAACTGATACTGTCATTCCAGAATGAGCTAAGAAGGCCTTTGTTCATCTAAACTCTGAAATAGTACTAATTTTAAGTCCTCAGGACTTGGTTATGGCCAAACATGAGTGTTAGAATTATGCATCAAAAATCCCCTGATTTTGTGCAAGTGGCTTGAAGCCATTGGATTTAACTCAGTTCAGATACAGGTCCCATTTGGCTCTAGAATTGGATTCAGGTCCCTCTTTTTCCCCCCCATCCACAGTCCGTCCACTCTCTCATCAGTGACTTTAAGGACCCGCCGACTGCTAAATACCGGGCTGCACACGTCTTCTTCACTGACTGAGTACAACCAAGAGCTGTCCCCAGTCCCATCAGGCAGGTTAGCATTTCTGTACAGCTGGGCTGAGCCAAAACTAAGGCAGGTCAAGAGGGAAGAAATGGGTTGTTACCATGCTTGTCCCGATCTGCTGGTTTCTCTTCAGAAGATAAATTGCATAAGAGACAAAAATAAGTGCACGCAAATACAAACCCACTAGATCATGCAGTCCTTCCTGCTGAAAAATAGCACACAAGCACCTCTTCTCAGGACTGACAGGCTTGGTGCTGAGAATGACCTTCCTGAGGCTTGGCATTTCATTATGTAGACTTCCAGTTAGCACTGTATGCTGTAGTATGTTTCCATCAATTTTTCAACTACAAAGATATTCCAATCCAGTAGTCTTTGTATTAGATAGAATCTGCATCATTACCCTAGAATTAGTTTTCTTATGTTTTGAGGATTTTATGCTCAGATCCTAGCGGAGAAGCAGAGGGAGATGAATTGACCTGGACAGCTACAGAGTATAAAACAGTAAGAATTCACCCAGAGATCTTCTCTCTAGGGATAAACTCCCACAGCACTCACCACTGAGAAAGTGGAAAGGATATAGCAGAAGAAGGATTTTGGCCGGGTGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGATCACCTGAGATCAGAAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGATATGACAGCAGGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCAAGATCACGCCATTGCACTCCAGTCTGGGTGACAGAATGAGACTCCATCCAAAAAAAAAAAAAAATCCTGATAAAATGAAGAGCCCACTGTACATGTGCAGCTGTTAAATGAACCAGCAAATGGACAGGAAAGCCAACTGTCTTTTGTCATACTTGCAGCTTGTCCAGATGCCCTGTTTAATGAACTGGTAAAATCCCGAGCAGCCAAAGTCATCAAAACTCTGACGGAAATCAATATTGCATTTCTCCCGTATGAATCCCAGGTGAGCCTGAGTAGGGGGTGCAAAGGAAATCTGCATCCTGTCTTATTCTGAGAGGGTGGGGTGGGACCTACTAAAGAGTTGAGGAGGGAAGGTACCATGCTCTGAATTGCCAAATGACAGGTTAGAAGTGGATGTTTACTGAATGGAAATAGTATTCCATAGGGCCTGCCCCCTGCCCTCATCTTACTCTCCAGTTGTTTCTGACTTTGCTTCAGCCTTGTGCCTTTCTTTGTGTGCATTTCATCCTTGCTCTCAGTGTTCACTCCTGTCGGCCGACTCCTTGAATAACCACTAAGTAGCCAATCAGAAACGAGCTTGGAAGGAGAGCGAGGGTGGGGAGCAGAAGCATCCCATCTGCTGCGAAGGAGACTGTTTTTTACGTGGAGATAACCTCAGCTTGTCATGTGCTGAGAGAGCAGATGGCAGCCTTCGTCATTAGCCGTTAACACTTCAGGTGCCAAATGCCAGGCCCATAAAGCACTCCCTTGGAAACAAACAAAATTATTAAACAAATAAAGGTGAAGCTGATTGTGAGAGAACAGACACAACTTGTCTCGGTATTTTGAGAGTTGTTAAAATGTCTTCTCTTACCAGACAAGGAAACAAAAACCACAGGACTTTGATGCATTTTACGGAGCTAAAAGATGATTGTGGCATATTGGATCTTTACAGATCAGCTTCGAGACACCAGAGAGTGACCTATTCTTAGAGAAGGAGAGATGCATAATATATAGTGTGAACATTTAAAAACAGGCTTCCTTCTCACTTGGCCTAAAGCCTGTCACCCGCTTGGGGGAAGGAATTTTTTTTTCTTCTGTGTGTTCCATCCCCACCTGGATAGAACAAAATCCAGCTTTAGCATATTGAACAATCTTATATTTCAGAAATTTTAAGAAAGTAAACTATTTTTCGAATACCATTTTTTAAGATTAAGGTAGTTTATATAAACNN | pathogenic | 150,266 |
The mutation impacting STXBP1 (syntaxin binding protein 1) on chromosome 9 at position 127661161: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | TGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTACCTGTCTTGGTCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCTCAGCCTTTTTTGTTTTTTTGGGTTGTTGTTGTTGTTTTTTGTTTGTTTGTTTTTGTTTTTGTTTTTTTTTGTTTTTTTTTTGAGACAGGTCTCTCTCCATCACCCAGGCTGGAGTGCAGTGTTGTGATCACAGTTCACTACAGCCCCGACCTCCGGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAACAGCTGGGACTACAGGCACATGCCACCATGCCCAGCTAATTTTTGGTAGAGATGGAGATCTTGCTATGTTGCCCAGGCTAGTGGCAAACTCCTGAGCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGTTGTGAGCCACCATGCCAGCCTTAGGTGTCTTAGTCTATATAAATTTCCTCCAATTTTCACACTTTTTTTTTTCACTTTGAAAACTGGCTTACATATGAATTTCTACAGATGCAATTAAATTGCCAAAAGGTCATCAATATGAATCTCCTGGAAGGTTTCTGCCGGGTTTCCTTTTTTGTGGGTGTCTTCCTAACAACTAATTACAGTGGCTCCAAAGAACTGATACTGTCATTCCAGAATGAGCTAAGAAGGCCTTTGTTCATCTAAACTCTGAAATAGTACTAATTTTAAGTCCTCAGGACTTGGTTATGGCCAAACATGAGTGTTAGAATTATGCATCAAAAATCCCCTGATTTTGTGCAAGTGGCTTGAAGCCATTGGATTTAACTCAGTTCAGATACAGGTCCCATTTGGCTCTAGAATTGGATTCAGGTCCCTCTTTTTCCCCCCCATCCACAGTCCGTCCACTCTCTCATCAGTGACTTTAAGGACCCGCCGACTGCTAAATACCGGGCTGCACACGTCTTCTTCACTGACTGTGAGTACAACCAAGAGCTGTCCCCAGTCCCATCAGGCAGGTTAGCATTTCTGTACAGCTGGGCTGAGCCAAAACTAAGGCAGGTCAAGAGGGAAGAAATGGGTTGTTACCATGCTTGTCCCGATCTGCTGGTTTCTCTTCAGAAGATAAATTGCATAAGAGACAAAAATAAGTGCACGCAAATACAAACCCACTAGATCATGCAGTCCTTCCTGCTGAAAAATAGCACACAAGCACCTCTTCTCAGGACTGACAGGCTTGGTGCTGAGAATGACCTTCCTGAGGCTTGGCATTTCATTATGTAGACTTCCAGTTAGCACTGTATGCTGTAGTATGTTTCCATCAATTTTTCAACTACAAAGATATTCCAATCCAGTAGTCTTTGTATTAGATAGAATCTGCATCATTACCCTAGAATTAGTTTTCTTATGTTTTGAGGATTTTATGCTCAGATCCTAGCGGAGAAGCAGAGGGAGATGAATTGACCTGGACAGCTACAGAGTATAAAACAGTAAGAATTCACCCAGAGATCTTCTCTCTAGGGATAAACTCCCACAGCACTCACCACTGAGAAAGTGGAAAGGATATAGCAGAAGAAGGATTTTGGCCGGGTGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGATCACCTGAGATCAGAAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGATATGACAGCAGGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCAAGATCACGCCATTGCACTCCAGTCTGGGTGACAGAATGAGACTCCATCCAAAAAAAAAAAAAAATCCTGATAAAATGAAGAGCCCACTGTACATGTGCAGCTGTTAAATGAACCAGCAAATGGACAGGAAAGCCAACTGTCTTTTGTCATACTTGCAGCTTGTCCAGATGCCCTGTTTAATGAACTGGTAAAATCCCGAGCAGCCAAAGTCATCAAAACTCTGACGGAAATCAATATTGCATTTCTCCCGTATGAATCCCAGGTGAGCCTGAGTAGGGGGTGCAAAGGAAATCTGCATCCTGTCTTATTCTGAGAGGGTGGGGTGGGACCTACTAAAGAGTTGAGGAGGGAAGGTACCATGCTCTGAATTGCCAAATGACAGGTTAGAAGTGGATGTTTACTGAATGGAAATAGTATTCCATAGGGCCTGCCCCCTGCCCTCATCTTACTCTCCAGTTGTTTCTGACTTTGCTTCAGCCTTGTGCCTTTCTTTGTGTGCATTTCATCCTTGCTCTCAGTGTTCACTCCTGTCGGCCGACTCCTTGAATAACCACTAAGTAGCCAATCAGAAACGAGCTTGGAAGGAGAGCGAGGGTGGGGAGCAGAAGCATCCCATCTGCTGCGAAGGAGACTGTTTTTTACGTGGAGATAACCTCAGCTTGTCATGTGCTGAGAGAGCAGATGGCAGCCTTCGTCATTAGCCGTTAACACTTCAGGTGCCAAATGCCAGGCCCATAAAGCACTCCCTTGGAAACAAACAAAATTATTAAACAAATAAAGGTGAAGCTGATTGTGAGAGAACAGACACAACTTGTCTCGGTATTTTGAGAGTTGTTAAAATGTCTTCTCTTACCAGACAAGGAAACAAAAACCACAGGACTTTGATGCATTTTACGGAGCTAAAAGATGATTGTGGCATATTGGATCTTTACAGATCAGCTTCGAGACACCAGAGAGTGACCTATTCTTAGAGAAGGAGAGATGCATAATATATAGTGTGAACATTTAAAAACAGGCTTCCTTCTCACTTGGCCTAAAGCCTGTCACCCGCTTGGGGGAAGGAATTTTTTTTTCTTCTGTGTGTTCCATCCCCACCTGGATAGAACAAAATCCAGCTTTAGCATATTGAACAATCTTATATTTCAGAAATTTTAAGAAAGTAAACTATTTTTCGAATACCATTTTTTAAGATTAAGGTAGTTTATATAAACGAGAATTTAAGAGAATACTGATAACTGGAAGACTCAGTCATTTAAGAGAGAATCTTCAACTTCTAGCATACTCCAAAAAAAAAAAAAGAAACAGAAAAAGAAGAGACAAATACGGCCAGGCATGATGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGTTTAACACGGTGAAACTCCATCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTAGCGGGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGACCCTGCAGTGAGCCGAGATCATGCCACTGCACCCCAGCCTGGGCAACAGAGCAAGATTCTATCTCAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGACAAATACTTAGAACATGCTACTGAAGATAAGGTATTATTAAATCCATAAATAGCTCCTTTATTTGCCCACAGTCACAGCACAGTATCTGGCTTGTCTCTTATTTATTGAAACTAAGCTTACAATTTCCAGTGTAGTCTCACACTAATCCCTTCTGCTCTCCTCCTGGCCTTGTCACTGTTCTCCAGGCACCCTAGGTACACACCCGCCCAAGGTCCTTGGCACTGCCTGTTCCCTCCATGTGGAAGTCCCCTGTAAACATCCCACCTTCAAGCCCTTGCTCAGATGTTACCTTCTCAGCAAGTCCTGGTGTCCTCCCTGTCCAGCCCTCCTGGACATCCTCCCCTGCTCTGATATTTTCTCATATACTTGCCAGTTTCTCAGGACCACACAATTCACTTTTCATTATGTTTATTGTCTGCTTTCTCCTACTAGATTGCAAACTCCTTGAGGACATGGATGTTTTGGTCACTAATAGTTCCCAAGTGTTTAGCACATGGGCACATGGTAGGCACCCAGTACATATTTGTGGAAGAAACGGGAACATATTCTGTAGACTCACTGCCAGGGTCAGAGAATACTCTGATAGTTCACAATATGTATTAATACTTTTTCTCCTCCCCAGGTCT | TGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTACCTGTCTTGGTCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCTCAGCCTTTTTTGTTTTTTTGGGTTGTTGTTGTTGTTTTTTGTTTGTTTGTTTTTGTTTTTGTTTTTTTTTGTTTTTTTTTTGAGACAGGTCTCTCTCCATCACCCAGGCTGGAGTGCAGTGTTGTGATCACAGTTCACTACAGCCCCGACCTCCGGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAACAGCTGGGACTACAGGCACATGCCACCATGCCCAGCTAATTTTTGGTAGAGATGGAGATCTTGCTATGTTGCCCAGGCTAGTGGCAAACTCCTGAGCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGTTGTGAGCCACCATGCCAGCCTTAGGTGTCTTAGTCTATATAAATTTCCTCCAATTTTCACACTTTTTTTTTTCACTTTGAAAACTGGCTTACATATGAATTTCTACAGATGCAATTAAATTGCCAAAAGGTCATCAATATGAATCTCCTGGAAGGTTTCTGCCGGGTTTCCTTTTTTGTGGGTGTCTTCCTAACAACTAATTACAGTGGCTCCAAAGAACTGATACTGTCATTCCAGAATGAGCTAAGAAGGCCTTTGTTCATCTAAACTCTGAAATAGTACTAATTTTAAGTCCTCAGGACTTGGTTATGGCCAAACATGAGTGTTAGAATTATGCATCAAAAATCCCCTGATTTTGTGCAAGTGGCTTGAAGCCATTGGATTTAACTCAGTTCAGATACAGGTCCCATTTGGCTCTAGAATTGGATTCAGGTCCCTCTTTTTCCCCCCCATCCACAGTCCGTCCACTCTCTCATCAGTGACTTTAAGGACCCGCCGACTGCTAAATACCGGGCTGCACACGTCTTCTTCACTGACTGTGAGTACAACCAAGAGCTGTCCCCAGTCCCATCAGGCAGGTTAGCATTTCTGTACAGCTGGGCTGAGCCAAAACTAAGGCAGGTCAAGAGGGAAGAAATGGGTTGTTACCATGCTTGTCCCGATCTGCTGGTTTCTCTTCAGAAGATAAATTGCATAAGAGACAAAAATAAGTGCACGCAAATACAAACCCACTAGATCATGCAGTCCTTCCTGCTGAAAAATAGCACACAAGCACCTCTTCTCAGGACTGACAGGCTTGGTGCTGAGAATGACCTTCCTGAGGCTTGGCATTTCATTATGTAGACTTCCAGTTAGCACTGTATGCTGTAGTATGTTTCCATCAATTTTTCAACTACAAAGATATTCCAATCCAGTAGTCTTTGTATTAGATAGAATCTGCATCATTACCCTAGAATTAGTTTTCTTATGTTTTGAGGATTTTATGCTCAGATCCTAGCGGAGAAGCAGAGGGAGATGAATTGACCTGGACAGCTACAGAGTATAAAACAGTAAGAATTCACCCAGAGATCTTCTCTCTAGGGATAAACTCCCACAGCACTCACCACTGAGAAAGTGGAAAGGATATAGCAGAAGAAGGATTTTGGCCGGGTGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGATCACCTGAGATCAGAAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGATATGACAGCAGGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCAAGATCACGCCATTGCACTCCAGTCTGGGTGACAGAATGAGACTCCATCCAAAAAAAAAAAAAAATCCTGATAAAATGAAGAGCCCACTGTACATGTGCAGCTGTTAAATGAACCAGCAAATGGACAGGAAAGCCAACTGTCTTTTGTCATACTTGCAGCTTGTCCAGATGCCCTGTTTAATGAACTGGTAAAATCCCGAGCAGCCAAAGTCATCAAAACTGACGGAAATCAATATTGCATTTCTCCCGTATGAATCCCAGGTGAGCCTGAGTAGGGGGTGCAAAGGAAATCTGCATCCTGTCTTATTCTGAGAGGGTGGGGTGGGACCTACTAAAGAGTTGAGGAGGGAAGGTACCATGCTCTGAATTGCCAAATGACAGGTTAGAAGTGGATGTTTACTGAATGGAAATAGTATTCCATAGGGCCTGCCCCCTGCCCTCATCTTACTCTCCAGTTGTTTCTGACTTTGCTTCAGCCTTGTGCCTTTCTTTGTGTGCATTTCATCCTTGCTCTCAGTGTTCACTCCTGTCGGCCGACTCCTTGAATAACCACTAAGTAGCCAATCAGAAACGAGCTTGGAAGGAGAGCGAGGGTGGGGAGCAGAAGCATCCCATCTGCTGCGAAGGAGACTGTTTTTTACGTGGAGATAACCTCAGCTTGTCATGTGCTGAGAGAGCAGATGGCAGCCTTCGTCATTAGCCGTTAACACTTCAGGTGCCAAATGCCAGGCCCATAAAGCACTCCCTTGGAAACAAACAAAATTATTAAACAAATAAAGGTGAAGCTGATTGTGAGAGAACAGACACAACTTGTCTCGGTATTTTGAGAGTTGTTAAAATGTCTTCTCTTACCAGACAAGGAAACAAAAACCACAGGACTTTGATGCATTTTACGGAGCTAAAAGATGATTGTGGCATATTGGATCTTTACAGATCAGCTTCGAGACACCAGAGAGTGACCTATTCTTAGAGAAGGAGAGATGCATAATATATAGTGTGAACATTTAAAAACAGGCTTCCTTCTCACTTGGCCTAAAGCCTGTCACCCGCTTGGGGGAAGGAATTTTTTTTTCTTCTGTGTGTTCCATCCCCACCTGGATAGAACAAAATCCAGCTTTAGCATATTGAACAATCTTATATTTCAGAAATTTTAAGAAAGTAAACTATTTTTCGAATACCATTTTTTAAGATTAAGGTAGTTTATATAAACGAGAATTTAAGAGAATACTGATAACTGGAAGACTCAGTCATTTAAGAGAGAATCTTCAACTTCTAGCATACTCCAAAAAAAAAAAAAGAAACAGAAAAAGAAGAGACAAATACGGCCAGGCATGATGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGTTTAACACGGTGAAACTCCATCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTAGCGGGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGACCCTGCAGTGAGCCGAGATCATGCCACTGCACCCCAGCCTGGGCAACAGAGCAAGATTCTATCTCAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGACAAATACTTAGAACATGCTACTGAAGATAAGGTATTATTAAATCCATAAATAGCTCCTTTATTTGCCCACAGTCACAGCACAGTATCTGGCTTGTCTCTTATTTATTGAAACTAAGCTTACAATTTCCAGTGTAGTCTCACACTAATCCCTTCTGCTCTCCTCCTGGCCTTGTCACTGTTCTCCAGGCACCCTAGGTACACACCCGCCCAAGGTCCTTGGCACTGCCTGTTCCCTCCATGTGGAAGTCCCCTGTAAACATCCCACCTTCAAGCCCTTGCTCAGATGTTACCTTCTCAGCAAGTCCTGGTGTCCTCCCTGTCCAGCCCTCCTGGACATCCTCCCCTGCTCTGATATTTTCTCATATACTTGCCAGTTTCTCAGGACCACACAATTCACTTTTCATTATGTTTATTGTCTGCTTTCTCCTACTAGATTGCAAACTCCTTGAGGACATGGATGTTTTGGTCACTAATAGTTCCCAAGTGTTTAGCACATGGGCACATGGTAGGCACCCAGTACATATTTGTGGAAGAAACGGGAACATATTCTGTAGACTCACTGCCAGGGTCAGAGAATACTCTGATAGTTCACAATATGTATTAATACTTTTTCTCCTCCCCAGGTCTNN | pathogenic | 150,274 |
Clinical significance of chromosome 9, position 127666254, gene STXBP1 (syntaxin binding protein 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Developmental_and_epileptic_encephalopathy,_4', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | TGGGGGATTTGGACGGGGATGACCACAGTTCTCTGGGAGAGTGAAGGCTGGAGTATAAGCAGGAGTCAGGGCAAGGAAAAACCAGAAGGGGTGGCTAACCAGGAGGCCACTGCAGGAGGAACAAAGGGCCTGGTCTTGGAGTGATGGGAACGGGGTGGACAGGTAAGGACAGAATCTGAGAGCGTGCAGAGGTGGATTCGGAACTGCCAGCAGGTTAGTAGTAGGGCAGGAAGGGCTTAGGCTGCCAAGGCATTGTGCCGTGGTAACCAAGAGCTTGGTGGTGCCACGGATCATGGGTTCACCCATCCTGTGACCTCATTGTCTCCTGGAAGTTGTGGCCATAGAAAAACACCTTCCGGTTGCTGTCCCAGTGCCTGGCTTCCCTCCACTGTTGGTAATCATGGACAAAGCCAGCCGGCAGTTAAGAAATGGGACCTAGGTGGCATCTCCTGACTGACCTGTGGGAGCTCAGGCTGGTAGCAGGGCTGCTGCAGTGCTGAGACTGGCCAGGAAGCAGGCAGCCGCCGCCCCAGCATCAGGTCAGGTGGGGCCCAGGGAGTGCTGTCAGACCCAGCCATGGGGAAGGGTTCAAAGGTTCTCACATTGTTCTGGCCATGCCAGCTGAAATGTCACTCTCCAACAAACACAACAAAACAAGACCCAAGAGAATGTGAACTGAGGGAAGTGAGAATCATGGGAGTCAGGCTGGGAGCCTGATCGTGGCAAAAGGTTCACTGACTGGTCAGGGCCCCCAGTGGAAGTGCGGCAGTTTATCTGAAGCTGCTTGGAAAGACATCTGTTTCCACTTAGATCATTCTGGATAAAAGCAATAAGAAAATCACTTACTTATGGTCCAGGCACTGAGCTAAGTGTTTTATTTTGCTTTTCCTTTCTAATTATACTCTCATTGTAAAAACACGAATACAGACAATGCTCACATCTCCCCTAACCCCGCTGCACTGCTTGGCTTCCTTTCCCGGGGGCAGCCAGCACCATCATGGGTGCTGGGTGGTTCATGCTCTGTCACCCCTCCTTTGTCAGGGAATACAAGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTATAAAGCTGATGATCCAACAATGGGGGAGGTAAGTCTGGCTTGGACCACGTGGTTCTCTTTACCAAGGACCGCAGTGTTTGTGTGACAGTCCCAGAGACAGCTTGGTTCTGTTGCCACAGAGCATGTGTCAGTGCTGCTTTTCCTGGGGACTGGCTTCCAGTGAAATGCCTGAAGCCCCTGGGGCAGGGCCATCTACATGTGTTCATCGTGGCCAGGGTGACCAACTTGTTCTGTTTGCCAGGGCTTTCCTGGTTGCAGCTCTGAATGGCCCAAGTCCCGGGAAACCCCCAGAAGCATAATAGCAAACCAGAAAATCGACAGACACACGCTTCAGAGCTCATTCAGCATTCACTGGTTTTTACACATGCTCTGTGTACAGCCCTGTGCGTTTTACACATGGATAGATATTCACTGGTTTTTACACATGCTCTGTGTACAGCCCTGTGCGTTTTACACATGGATAGAGTCATGTAACCATCTTACAATCAAGATACAGGGCTGTTTCCTCACCACCTTGATTTTAAAACTGAAAGGCCCAGGTCCTGGGAACCCGCTTAGTCCCAGGCACACTGGAGGGTGGTTGCCCCATTTGTAGTTGAACTTGGGCAGTTTCCTACAGAAACTCACTTCGGCTCCTAGCGTTTCATATCTGCCCCTAAGTGCGCTTGCTATGAAATAGAAACACTGGAGTCTTTTAGGGTATTTTTGGTGATCTTGTCTAGCAGTAGACTTCTGTGCTGCGTTAGTAACTTTGCACCTCAGAGTTTGCTTCCTGCTGCCCTCCTTTACAAGAGGGGTTCGCTAGGTGGAGAAGCCGGAGTTGGCTGGGTGGCTTGTGAAGCATCTCCCTGTTTTCCCCCAGGGCCCAGACAAGGCACGCTCCCAGCTCCTGATCCTGGATCGAGGCTTTGACCCCAGCTCCCCTGTGCTCCATGAATTGACTTTTCAGGCTATGAGTTATGATCTGCTGCCTATCGAAAATGATGTATACAAGTAAGTATAGTGTTACAGACCCCAGAGTGTATACGGCTCTGCACATGAGCCAAAAATATGTCTAGAAAAAGAACGGGTTTTTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCACCCAAGCGGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAGGCATGTGCCACCATGCCCAGCTAACTTTTTGTATTTTTTTAGTAGAGATGGGATTTCACTGTGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCAGAAAAAGAGAGTTTTTTTTGTTTGTTGTTTTCTTAAGACGAAGTCTCGCCCTGTCACCCAGGCTGGAGTGCATTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACATCTGGCTAATTTTTTGTATCTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACAGCGCCCAGCAAAAGAGCATTTTTAACCCTAGGAAAAACGGTTCATTGATACAGCCTTGCAAATTAGCCTGTAAGTTCTTCTGCGAGTTCCCCAAATCCATGTGGCATTTCTAGGCAGGAACTCATGACTTGTCCTCTTTTTGGGGAGGACAAGCACTTTAGGTCTTTGGTTCCCAGCTCACAGCACCTCAGGTCATAGCCTACTTGGATATGTTAATATTGATTTTTGTGTTTATGTGTGTATCTCATTCAGAGTTGAAATTTTTTCTTTCTGTTTTATTGGTTCTGCCTCTCTGGAGGCAGAGTTGAAACTTCTTGTTTATAGATCCTGAAATATGATGATGATGAAATATATCAACAGAAGTTTCATACTGAACTTTCCTCACAGAGGAGCTGTTTTCTTCATTTGTAAAAAACATTTTTCTTGGTAGCAATCATCAGAAATTTAGTTTCTAAAAACCAGTTTTTCCTTTTGTGGAACCAGACTGTATAAGAAACAGACTGTATGAGAACAGACATTGTTCTCATGGCATTTAATAGCATCCATCATAAAGATAGTGGTTTCAAAATGAAGATTCTAAAAATATGAGTGAATCTCGGTTCTCCCTGTTGGTAGCTATAATTTGTGCCTCCTCCAGCTGTTCACGATTTCCCATGTGATTGGTGCTGAGGGCCTATTGCAGGCAGCTGCTGGAAGCTATTTAGGCGCCACACATTGAGGATGACATCCCAGTGCCTTTCCAGAGGGACAGATGTGATCTTTGCCTTTCCCCTATAAATAACTAAACTCATGTATGACCTGACTTCATGCCCTGGACCAGACAGCTCAGGTGGAGCTTGTATCAGCTGACCCAAAAGATTTTAAGACAGAATTTCAAATTGGTTGACTTTGAAGAGAGCTTTGAATCTCTCCTACCCGAGGAATTGCAGCCCGGGTCAGTGCTGCCACAGCAAGCCTGGCTGACAGGTCCAATGTTGTGACGGCACTTGTGAACATCTGGCAGCTGAGGGTGGTGAGCTGCTGCTGCTGTAAGCTGAAGAGGGTTCGATGAATGTTGTGGAGACAGTGCACTCCACCTGAGTCCCGTCTCCATTCTAGGTATGAGACCAGCGGCATCGGGGAGGCACGGGTGAAGGAGGTGCTCCTGGACGAGGACGACGACCTGTGGATAGCACTGCGCCACAAGCACATCGCAGAGGTGTCCCAGTAAGAGCCCCCTGCCCCCTTCTCCAGCGAGGCGCCTCTACCCAGCTGCTATTGATGATGCGTTCACTCTGGGCACCTCGCGGGGGCTCATCACTGTGTGAATTCGTTTTCTTG | TGGGGGATTTGGACGGGGATGACCACAGTTCTCTGGGAGAGTGAAGGCTGGAGTATAAGCAGGAGTCAGGGCAAGGAAAAACCAGAAGGGGTGGCTAACCAGGAGGCCACTGCAGGAGGAACAAAGGGCCTGGTCTTGGAGTGATGGGAACGGGGTGGACAGGTAAGGACAGAATCTGAGAGCGTGCAGAGGTGGATTCGGAACTGCCAGCAGGTTAGTAGTAGGGCAGGAAGGGCTTAGGCTGCCAAGGCATTGTGCCGTGGTAACCAAGAGCTTGGTGGTGCCACGGATCATGGGTTCACCCATCCTGTGACCTCATTGTCTCCTGGAAGTTGTGGCCATAGAAAAACACCTTCCGGTTGCTGTCCCAGTGCCTGGCTTCCCTCCACTGTTGGTAATCATGGACAAAGCCAGCCGGCAGTTAAGAAATGGGACCTAGGTGGCATCTCCTGACTGACCTGTGGGAGCTCAGGCTGGTAGCAGGGCTGCTGCAGTGCTGAGACTGGCCAGGAAGCAGGCAGCCGCCGCCCCAGCATCAGGTCAGGTGGGGCCCAGGGAGTGCTGTCAGACCCAGCCATGGGGAAGGGTTCAAAGGTTCTCACATTGTTCTGGCCATGCCAGCTGAAATGTCACTCTCCAACAAACACAACAAAACAAGACCCAAGAGAATGTGAACTGAGGGAAGTGAGAATCATGGGAGTCAGGCTGGGAGCCTGATCGTGGCAAAAGGTTCACTGACTGGTCAGGGCCCCCAGTGGAAGTGCGGCAGTTTATCTGAAGCTGCTTGGAAAGACATCTGTTTCCACTTAGATCATTCTGGATAAAAGCAATAAGAAAATCACTTACTTATGGTCCAGGCACTGAGCTAAGTGTTTTATTTTGCTTTTCCTTTCTAATTATACTCTCATTGTAAAAACACGAATACAGACAATGCTCACATCTCCCCTAACCCCGCTGCACTGCTTGGCTTCCTTTCCCGGGGGCAGCCAGCACCATCATGGGTGCTGGGTGGTTCATGCTCTGTCACCCCTCCTTTGTCAGGGAATACAAGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTATAAAGCTGATGATCCAACAATGGGGGAGGTAAGTCTGGCTTGGACCACGTGGTTCTCTTTACCAAGGACCGCAGTGTTTGTGTGACAGTCCCAGAGACAGCTTGGTTCTGTTGCCACAGAGCATGTGTCAGTGCTGCTTTTCCTGGGGACTGGCTTCCAGTGAAATGCCTGAAGCCCCTGGGGCAGGGCCATCTACATGTGTTCATCGTGGCCAGGGTGACCAACTTGTTCTGTTTGCCAGGGCTTTCCTGGTTGCAGCTCTGAATGGCCCAAGTCCCGGGAAACCCCCAGAAGCATAATAGCAAACCAGAAAATCGACAGACACACGCTTCAGAGCTCATTCAGCATTCACTGGTTTTTACACATGCTCTGTGTACAGCCCTGTGCGTTTTACACATGGATAGATATTCACTGGTTTTTACACATGCTCTGTGTACAGCCCTGTGCGTTTTACACATGGATAGAGTCATGTAACCATCTTACAATCAAGATACAGGGCTGTTTCCTCACCACCTTGATTTTAAAACTGAAAGGCCCAGGTCCTGGGAACCCGCTTAGTCCCAGGCACACTGGAGGGTGGTTGCCCCATTTGTAGTTGAACTTGGGCAGTTTCCTACAGAAACTCACTTCGGCTCCTAGCGTTTCATATCTGCCCCTAAGTGCGCTTGCTATGAAATAGAAACACTGGAGTCTTTTAGGGTATTTTTGGTGATCTTGTCTAGCAGTAGACTTCTGTGCTGCGTTAGTAACTTTGCACCTCAGAGTTTGCTTCCTGCTGCCCTCCTTTACAAGAGGGGTTCGCTAGGTGGAGAAGCCGGAGTTGGCTGGGTGGCTTGTGAAGCATCTCCCTGTTTTCCCCCAGGGCCCAGACAAGGCACGCTCCCAGCTCCTGATCCTGGATCGAGGCTTTGACCCCAGCTCCCCTGTGCTCCATGAATTGACTTTTCAGGCTGAGTTATGATCTGCTGCCTATCGAAAATGATGTATACAAGTAAGTATAGTGTTACAGACCCCAGAGTGTATACGGCTCTGCACATGAGCCAAAAATATGTCTAGAAAAAGAACGGGTTTTTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCACCCAAGCGGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAGGCATGTGCCACCATGCCCAGCTAACTTTTTGTATTTTTTTAGTAGAGATGGGATTTCACTGTGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCAGAAAAAGAGAGTTTTTTTTGTTTGTTGTTTTCTTAAGACGAAGTCTCGCCCTGTCACCCAGGCTGGAGTGCATTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACATCTGGCTAATTTTTTGTATCTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACAGCGCCCAGCAAAAGAGCATTTTTAACCCTAGGAAAAACGGTTCATTGATACAGCCTTGCAAATTAGCCTGTAAGTTCTTCTGCGAGTTCCCCAAATCCATGTGGCATTTCTAGGCAGGAACTCATGACTTGTCCTCTTTTTGGGGAGGACAAGCACTTTAGGTCTTTGGTTCCCAGCTCACAGCACCTCAGGTCATAGCCTACTTGGATATGTTAATATTGATTTTTGTGTTTATGTGTGTATCTCATTCAGAGTTGAAATTTTTTCTTTCTGTTTTATTGGTTCTGCCTCTCTGGAGGCAGAGTTGAAACTTCTTGTTTATAGATCCTGAAATATGATGATGATGAAATATATCAACAGAAGTTTCATACTGAACTTTCCTCACAGAGGAGCTGTTTTCTTCATTTGTAAAAAACATTTTTCTTGGTAGCAATCATCAGAAATTTAGTTTCTAAAAACCAGTTTTTCCTTTTGTGGAACCAGACTGTATAAGAAACAGACTGTATGAGAACAGACATTGTTCTCATGGCATTTAATAGCATCCATCATAAAGATAGTGGTTTCAAAATGAAGATTCTAAAAATATGAGTGAATCTCGGTTCTCCCTGTTGGTAGCTATAATTTGTGCCTCCTCCAGCTGTTCACGATTTCCCATGTGATTGGTGCTGAGGGCCTATTGCAGGCAGCTGCTGGAAGCTATTTAGGCGCCACACATTGAGGATGACATCCCAGTGCCTTTCCAGAGGGACAGATGTGATCTTTGCCTTTCCCCTATAAATAACTAAACTCATGTATGACCTGACTTCATGCCCTGGACCAGACAGCTCAGGTGGAGCTTGTATCAGCTGACCCAAAAGATTTTAAGACAGAATTTCAAATTGGTTGACTTTGAAGAGAGCTTTGAATCTCTCCTACCCGAGGAATTGCAGCCCGGGTCAGTGCTGCCACAGCAAGCCTGGCTGACAGGTCCAATGTTGTGACGGCACTTGTGAACATCTGGCAGCTGAGGGTGGTGAGCTGCTGCTGCTGTAAGCTGAAGAGGGTTCGATGAATGTTGTGGAGACAGTGCACTCCACCTGAGTCCCGTCTCCATTCTAGGTATGAGACCAGCGGCATCGGGGAGGCACGGGTGAAGGAGGTGCTCCTGGACGAGGACGACGACCTGTGGATAGCACTGCGCCACAAGCACATCGCAGAGGTGTCCCAGTAAGAGCCCCCTGCCCCCTTCTCCAGCGAGGCGCCTCTACCCAGCTGCTATTGATGATGCGTTCACTCTGGGCACCTCGCGGGGGCTCATCACTGTGTGAATTCGTTTTCTTGNN | pathogenic | 150,313 |
The mutation in gene STXBP1 (syntaxin binding protein 1) at chromosome 9, position 127673243—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_4'] | CTCATCTCTGCCCCTATCCTTGTTGCCCTGCCTCCTTGCTCCAGCCACACCAGTGTCCTCTTGCCTCAGACCTGGCCAGGTTCTTTGGCTCAGGCATCATTTCCTCAGGGAAACCCTCCCCGGGTCCCTACCCAGACTAGGCAGATGCCTGTGCCACGTGCACCCACACTACCTGGTGAGTCCCCTCGAAGGGCCCTGATCTCTGCAGTGCTTTGGCTCCTCTCCTGGATGCTCTGATTCTCCGTGAATTAGAGATTCTTTTTTTTTTTTCTTTTGTCCTTGTATCTCCAGCACCTAATAGTTCCTGGTATATAGTAGTAATTCAGTAAATTTTTGTTGGGTAAATGGATGGGATTAGATGGCCCACACAGAAAGCACACAGACCTGTCTTGCCCATTGGGTGCAGATTCCCACCCTCTGTGACCTCCCTGTGCTCCTCCCGTCCACGTAGCCACAGTCTTTCTGCCAGGAGGAAGTGCAAACTTGATGCTAAGGCTGCTTGAGCTGAGGATGAAGAAAAGCAGTGAATAGAAGGATTTTTTTTCCTCAGCAAGAATTAGCTCTCAACAGCTTTCTAGTCCAATAAGCATAGAATAAAATATAACTGCTAGACTTCAGAGTTCAGTTCCCAACCTATAAGACAATCATATTTGGATCAAAAAAAATTTTGAGCCAGAGGCCTGGAAATCTAAACACACATGATTTTGTGTTTCACAGATTCATTTTGAGTGTTACAGAGTGTGCGCTTGGGAACCCTAGTGTGGGCAGCTGTCCTGTCCTGTGCCCACTAGCCTTGCAAAGCCTCCTAACATCAGGGCCATTAGAGTGACACCATGTGCTTTCCTTTCCCTTACAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGCAGCCCCAAATCATCTGTTTGAATAATTGAGTAGAAACAGCTGCAAAAAGACTTCTCAAAGCCCTACTACTCTAATTGATTCATGGAAATTCACAGATTTAGTTATCTTCAATTTTTATTAGAAAAGAAATGAAAGGCTGGGATAGGCACCTTATTTCCTGTCACTTTCTTTTCTCCTCTTTATCTTTTCCTTCCTATTCCCTTGCTGTTGGCAGGAGGCCTCAGTTCCTCACCACATGGGCCTCTCCACAGGGCTCCTTGAGCATCCTCCCAACAGGGCCATTGGCTTTCCCCAGAGTGAGCCATCTGAGAGAGAGAGTGCTAGGAGGAAGTCACAATACCTTTTATGTCCCGATCCTGGATGCCATGCATTATCAGTTCCTCCACATTGTTTGTTAGAAGCAAGCTACTAATTCCAGCCTACAGTTAAGGAGGGAATGAAGCTCTGCCTCCTAAAAGGAGGAGTATCAAAGAATCTGTGGACACATTGTAGTAATAAAACCATCATTGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACCCTGTCTCTACTATAAGTACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAAACGTTGCAGTGAACCGAGGTTGCACCACTGCACTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAATAAAAACCATGGTGCCACCTACCCTCATAAAGGATTTCTCCTTTGTCTTAACTCTTTTAGAATGTGGTTTGTCCCTCTCTTTTGACATGTAACACTTTCTACTTTGTGATGTTTGTGTACCCGCTTGTACACACTTTTTACCTCCTTTCTGAGGCTAGCGACTCCTTGGTGCCCAGTGGTGTTTTATACGTAGTAGGTGCTCAGTAGATGTTGCATGCATCCATGATTAGTCCCTTGGTCACAAACTGTTGTGCTTTTTCCTAGTACTCCACCCACCTGCACCTTGCTGAGGACTGTATGAAGCATTACCAAGGCACCGTAGACAAACTCTGCCGAGTGGAGCAGGTAGGACTCTCCTTCTGCCACGGCAAGTTTTTGCCAGGCCTATTTACCCAGCAGAATTTTAACATCTGCCCTTGAACATCCTGCAGAATCATAGGAAATAGAGACGGGAAGGCCTGCTAGATCATGCTGTCTCAACTCTGGAGCCAGTGCGGTTCCACTGTCCATGGTAGGGACTAGATTGGTCTGGAATGCTGTGCCGTTTGGATTTTGCATGCCTATTTTGAAAGGCTCTGTTTTCCCTGGAATGAGTGAAGAAAGATGTGTGGGGTTCTGAGCCCTACATTGACAGGACTGGCAGAATTTTATATTCTGAATGTGTTCTACTCTTGCCATGGCCAGACCAGCTTTGGAGACCTCGAGGCTGACAGAGGGTAGAGCAGTAGCAATCAGAAATTTGCCCAAAGCATCCCTGATCACAATTGGGATTGTAAATTGAGAATTTGGGGTTTGAGTTCTGTCTCTGTCACTGATTATTTGATGTGCCTGTTTCTTTGTGTTTCATTTTTTTCATCTGCAAAAGGGAAATCATTGCTGACATTTTTCAAGGTTGTCTTGTGGAGTCACTAATCCTGGCTTAGATTCATCCTAATTCTTCAAGTGTTTCAACATTATAAAACCATGGTTCAAATTCTAAGCGAAGAGAAGATGTTAAAAGATTCTGAAGCCGGCTGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGACGGGCGGATCATGAAGTCAGGAGTTCAAGACCAGCTTGGGCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAATTGGGCGTGGTAGCTGGCGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTCGAACTCGGGAGGCGGAGGTTGCAGTGAACAGAGATTGCTCCACTGCACTCCAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAATAATAATAATAAGATTCCGAAGCCTCAGCTTGGCCTCTTTTCATAGAAAAAAACAATTCAGGATCTCAGTGTGAAGCTAAGATTTCAATCCTCTGGTTTGGTGTGACAGGCTCAGTTTAGGATTGTAAGCCCTGTCCTGTATCTTTGGATATTTTATAAGGGGAAGCAGCCCTGCTAAAATCCATCAATTTTATAGGGGATTATAGCAAACACAAGGTGTCCTCTTGAAAAGAACCTGACCATCTAGAAAATAGGTCATACCTAAATCAGTAAAAATGTAGTTTGGGATTAATTTTGGAAGTTTACAAATTTTCAGAAGTGATCAAAAGTATTGTTGAACTAGTTGCATTATTAAAATCATGTCCTGCTAGTCAAATGTCTGTTGAGGCTGGTGGTAGGACTGAAAGGTGAACGGCCTGTGAGAGGTGTCCTGCCTTCCTGGGACACAGACTGGAGAGAGACTATGAACTCGAGATCAGAATTTGTATGGACTCTTGGGATCTTGAGAGAAAAAAAGAGAGCCTTCAGGCAACCTCCTAAGAGCCACAAAGGAAGCTGCAGCTGTGAGTCCTGGTTGGCTGAGACCAGCGTGCTGCCTTCTCTGGATCTGAGTCTTGCCTGCATCATGAAGCGGGGCCAGGAACTTGTGTTCACTTCACTCTTTTTCATGTCTAGTTCTTTTTCAGCCCATATCTTCCCCTTCATCTCCTGGGGTTTGGATTTGCTGGTTTGGGGGCTCTTTTTTTCCCTTCCTCACTCATGAAACATGGTAGAAAGATTAAAAACACGTTAAAAGCCTGGAGCAGTTCAAACTCAAAAAGCATGTGCTTCAATGTGAGGGGAAGCAGAATGGAAAGAATCTACCCACGCGGAGGCATCCTAAAATCCCAGCACTTTTCATGGGAGGGAAGCACATCCCTTTAAGTCCCGCTCCCTCACAGGGCCTTGTACCTCTAGAGGGCCTACCAAGATTTAGTCTTTTTTTTTTGTTATGAGCCAGGGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGC | CTCATCTCTGCCCCTATCCTTGTTGCCCTGCCTCCTTGCTCCAGCCACACCAGTGTCCTCTTGCCTCAGACCTGGCCAGGTTCTTTGGCTCAGGCATCATTTCCTCAGGGAAACCCTCCCCGGGTCCCTACCCAGACTAGGCAGATGCCTGTGCCACGTGCACCCACACTACCTGGTGAGTCCCCTCGAAGGGCCCTGATCTCTGCAGTGCTTTGGCTCCTCTCCTGGATGCTCTGATTCTCCGTGAATTAGAGATTCTTTTTTTTTTTTCTTTTGTCCTTGTATCTCCAGCACCTAATAGTTCCTGGTATATAGTAGTAATTCAGTAAATTTTTGTTGGGTAAATGGATGGGATTAGATGGCCCACACAGAAAGCACACAGACCTGTCTTGCCCATTGGGTGCAGATTCCCACCCTCTGTGACCTCCCTGTGCTCCTCCCGTCCACGTAGCCACAGTCTTTCTGCCAGGAGGAAGTGCAAACTTGATGCTAAGGCTGCTTGAGCTGAGGATGAAGAAAAGCAGTGAATAGAAGGATTTTTTTTCCTCAGCAAGAATTAGCTCTCAACAGCTTTCTAGTCCAATAAGCATAGAATAAAATATAACTGCTAGACTTCAGAGTTCAGTTCCCAACCTATAAGACAATCATATTTGGATCAAAAAAAATTTTGAGCCAGAGGCCTGGAAATCTAAACACACATGATTTTGTGTTTCACAGATTCATTTTGAGTGTTACAGAGTGTGCGCTTGGGAACCCTAGTGTGGGCAGCTGTCCTGTCCTGTGCCCACTAGCCTTGCAAAGCCTCCTAACATCAGGGCCATTAGAGTGACACCATGTGCTTTCCTTTCCCTTACAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGCAGCCCCAAATCATCTGTTTGAATAATTGAGTAGAAACAGCTGCAAAAAGACTTCTCAAAGCCCTACTACTCTAATTGATTCATGGAAATTCACAGATTTAGTTATCTTCAATTTTTATTAGAAAAGAAATGAAAGGCTGGGATAGGCACCTTATTTCCTGTCACTTTCTTTTCTCCTCTTTATCTTTTCCTTCCTATTCCCTTGCTGTTGGCAGGAGGCCTCAGTTCCTCACCACATGGGCCTCTCCACAGGGCTCCTTGAGCATCCTCCCAACAGGGCCATTGGCTTTCCCCAGAGTGAGCCATCTGAGAGAGAGAGTGCTAGGAGGAAGTCACAATACCTTTTATGTCCCGATCCTGGATGCCATGCATTATCAGTTCCTCCACATTGTTTGTTAGAAGCAAGCTACTAATTCCAGCCTACAGTTAAGGAGGGAATGAAGCTCTGCCTCCTAAAAGGAGGAGTATCAAAGAATCTGTGGACACATTGTAGTAATAAAACCATCATTGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACCCTGTCTCTACTATAAGTACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAAACGTTGCAGTGAACCGAGGTTGCACCACTGCACTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAATAAAAACCATGGTGCCACCTACCCTCATAAAGGATTTCTCCTTTGTCTTAACTCTTTTAGAATGTGGTTTGTCCCTCTCTTTTGACATGTAACACTTTCTACTTTGTGATGTTTGTGTACCCGCTTGTACACACTTTTTACCTCCTTTCTGAGGCTAGCGACTCCTTGGTGCCCAGTGGTGTTTTATACGTAGTAGGTGCTCAGTAGATGTTGCATGCATCCATGATTAGTCCCTTGGTCACAAACTGTTGTGCTTTTTCCTAGTACTCCACCCACCTGCACCTTGCTGAGGACTGTATGAAGCATTACCAAGGCACCGTAGACAAACTGCCGAGTGGAGCAGGTAGGACTCTCCTTCTGCCACGGCAAGTTTTTGCCAGGCCTATTTACCCAGCAGAATTTTAACATCTGCCCTTGAACATCCTGCAGAATCATAGGAAATAGAGACGGGAAGGCCTGCTAGATCATGCTGTCTCAACTCTGGAGCCAGTGCGGTTCCACTGTCCATGGTAGGGACTAGATTGGTCTGGAATGCTGTGCCGTTTGGATTTTGCATGCCTATTTTGAAAGGCTCTGTTTTCCCTGGAATGAGTGAAGAAAGATGTGTGGGGTTCTGAGCCCTACATTGACAGGACTGGCAGAATTTTATATTCTGAATGTGTTCTACTCTTGCCATGGCCAGACCAGCTTTGGAGACCTCGAGGCTGACAGAGGGTAGAGCAGTAGCAATCAGAAATTTGCCCAAAGCATCCCTGATCACAATTGGGATTGTAAATTGAGAATTTGGGGTTTGAGTTCTGTCTCTGTCACTGATTATTTGATGTGCCTGTTTCTTTGTGTTTCATTTTTTTCATCTGCAAAAGGGAAATCATTGCTGACATTTTTCAAGGTTGTCTTGTGGAGTCACTAATCCTGGCTTAGATTCATCCTAATTCTTCAAGTGTTTCAACATTATAAAACCATGGTTCAAATTCTAAGCGAAGAGAAGATGTTAAAAGATTCTGAAGCCGGCTGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGACGGGCGGATCATGAAGTCAGGAGTTCAAGACCAGCTTGGGCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAATTGGGCGTGGTAGCTGGCGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTCGAACTCGGGAGGCGGAGGTTGCAGTGAACAGAGATTGCTCCACTGCACTCCAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAATAATAATAATAAGATTCCGAAGCCTCAGCTTGGCCTCTTTTCATAGAAAAAAACAATTCAGGATCTCAGTGTGAAGCTAAGATTTCAATCCTCTGGTTTGGTGTGACAGGCTCAGTTTAGGATTGTAAGCCCTGTCCTGTATCTTTGGATATTTTATAAGGGGAAGCAGCCCTGCTAAAATCCATCAATTTTATAGGGGATTATAGCAAACACAAGGTGTCCTCTTGAAAAGAACCTGACCATCTAGAAAATAGGTCATACCTAAATCAGTAAAAATGTAGTTTGGGATTAATTTTGGAAGTTTACAAATTTTCAGAAGTGATCAAAAGTATTGTTGAACTAGTTGCATTATTAAAATCATGTCCTGCTAGTCAAATGTCTGTTGAGGCTGGTGGTAGGACTGAAAGGTGAACGGCCTGTGAGAGGTGTCCTGCCTTCCTGGGACACAGACTGGAGAGAGACTATGAACTCGAGATCAGAATTTGTATGGACTCTTGGGATCTTGAGAGAAAAAAAGAGAGCCTTCAGGCAACCTCCTAAGAGCCACAAAGGAAGCTGCAGCTGTGAGTCCTGGTTGGCTGAGACCAGCGTGCTGCCTTCTCTGGATCTGAGTCTTGCCTGCATCATGAAGCGGGGCCAGGAACTTGTGTTCACTTCACTCTTTTTCATGTCTAGTTCTTTTTCAGCCCATATCTTCCCCTTCATCTCCTGGGGTTTGGATTTGCTGGTTTGGGGGCTCTTTTTTTCCCTTCCTCACTCATGAAACATGGTAGAAAGATTAAAAACACGTTAAAAGCCTGGAGCAGTTCAAACTCAAAAAGCATGTGCTTCAATGTGAGGGGAAGCAGAATGGAAAGAATCTACCCACGCGGAGGCATCCTAAAATCCCAGCACTTTTCATGGGAGGGAAGCACATCCCTTTAAGTCCCGCTCCCTCACAGGGCCTTGTACCTCTAGAGGGCCTACCAAGATTTAGTCTTTTTTTTTTGTTATGAGCCAGGGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCNN | pathogenic | 150,346 |
A mutation at chromosome position 127678443 on chromosome 9 in gene STXBP1 (syntaxin binding protein 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_4', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Infantile_epilepsy_syndrome'] | TGGGCAGGGGTTGCTGAGAAGCCGGGGGGCAGATGGAAACACAGACTATAGGGGCAGCTGCTGATGGTCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACTCTGTAGCCCAGGATGGAGTGCAGTGGTGAGATTTTGGCTCGCTGCAACCTCCACCTCCCACATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCGTGAACTCCTGACCTCAGGTGATCTGCTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTTTTTATGACTAAAGAACAAGTTTGCTCCAGGTTCCCAAAAGGGCACATTTAGGGCTATTCCATGGAAAACCATCCCCCCACCATTACTCTTTGCCAGTGCTGCCTCTGGGTTCCTTCAGGGAATTTCCAGAGAGTAGCAGAGGTCACCTAGGGCCCAAGTGGCCCTGACTCAGGTTCTAACCTGGTGTGTGTGTGCATGCAGTCCACGCTGCGTCGCCGGAGCAAGCCGGAGCGGAAGGAACGCATCAGCGAGCAGACCTACCAGCTCTCACGGTGGACTCCGATTATCAAGGACATCATGGAGGTTAGTGCTGGGGCACAGGGAGGAAAAACCAGGCCCAGGGCCCTTGGCTTGTCAGCCTGGATGCTTCCAGCTTCACCTGCGGCGAGGTGCTGCTGACTTCACAGGTACTGCCTCCACTTGAGGATTTGCATCCAGGCCTCCTTCGGCCCTCATGGTGCCCCTTGCCTGGGGGTTTCTGAAGAGCTGAGAGACTGTGAAGCACAGCCCCAGATCTATTTGTTGTTATGTCTTGGAGGACTCAGCTCCTATAATAGAGACTCCTCTAGGGTGCCGCATCCAGAGGGGTCCAAGTGTATCTCAAAGGTCAGATGAGTGACATCACATCTCCACACAGGTGCAGTGGCTCAGCACACTTCCCCAGCACGGCCCTGCCTGCCCCGCCCTGCCCTCCTCCTGCTGTTCCCTACCTGAGCCTCCACACACCAGCAAATCGGATTCTGCTCCTCTGGCCAAAGCAGCCCCTTGCCTGGCATATTCTCACCCCTCCACTCCCCTTCCCAGATCCTGCTTTCCATCCAAGCCCCTCTTGAATCTTACCATTTCCATCTGCCGCCCCACCTGTCTGACCACTCAGCACACAGGGGCCTCCCCTGGACTCCTTAGTGCACATGTGCCTCTTGGTGCCTCGGGTCGCCTTTTTGTTTGTTGGTCCTGTCCCCTCAGCTGCTGTGTCATCTGCACAGAGCCTCTAGTGCAGCAGGTGTTTTTGCAGTTGTTGGCTGGAAGGTGTATAAGGTGGTGGCCACCGCAGTAGCCCTGTGGGGTCACTCCCTTCTCTCCTTGTAGCGGGAAGAGACCCTGCATAGAATCCTGCACCACTAGATCTTTCCAACTTGATTAGTGAACAAAACTGGGGTCTAGAGAATGAAGGGGTTTTTCTCGGGATCCCTTAGTTAATTCCTGGCAGCCCAGGTGTTCCTATTGAATTGTACATTAATATAAATGTATTTTAAATATATAGAGTGAGTCAGCTCCCATTTTTAAAATCCACAAACTAAAAGGATGGGTGAACATGAAACATCTAGAAACCAATTATATCTCTTTGCTTGTTGGGATAGCCAACCCCTCTGTCTCATTCCTTCCTTTGTTCTCTGCTCCCTTTTGCTCCCCCTCCTCTCCGATCCCCTAAAGAGACATGTGTAGGCTTCATGTGGGAGCTGTAAAGAAGAGTGTGGATTTCTAGGCAGCAGGAGGTAGATGGTGAGAGTCCACCCACCAGATAATTAGACACTTGAAAAACGGAGGGGGTAAGGCTTCTTCATGCAGGAGAGACACTGCTTGTGCCTGGTTTCTACAAGGCTGATGGCAAGTATCAGGAATTTATTGGACAGAATGCATCATTTATAAAACCTCACATAGATTATGAAAGTGAATAAACTGGAAGAGAAGCAAGAAAAAACTTCTCTTAAAAAGCAGGCTATCTCAGTGTAGCAGCTAGTTACAAAGCATCTGCTATAACTGAGCCCTGTGCTAGGCACCTCTGGCCGCAGGGAAGGGAGCTCTGGTTGTTGCAAACCTGGCCATGGCTTTGCCAAGTGACATGTTCTACAGATCATCTGGCCTTGGTTCCTATCAGCACTTTTCAGACAGATGGCAAGCTAATATCTGTCTCTTTTCCTTCTAGGACACTATTGAGGACAAACTTGACACCAAACACTACCCTTATATCTCTACCCGTTCCTCTGCCTCCTTCAGCACCACCGCCGTCAGGTAGGTGAAAATCCCTTAGCAAGGACAGAGGGGAGCCAGCTCTGGTTGGATGTCAGCTCTGCGGCAGACCCACTGTACGGCTGTGTGATCTACCAGAGCCCTCTCGCTGCTGCTCCCCACAGCTGCAGCGTGGGCCAGGTCTGCACAGTGGTCCCACGGCCCTTCCCCCTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTC | TGGGCAGGGGTTGCTGAGAAGCCGGGGGGCAGATGGAAACACAGACTATAGGGGCAGCTGCTGATGGTCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACTCTGTAGCCCAGGATGGAGTGCAGTGGTGAGATTTTGGCTCGCTGCAACCTCCACCTCCCACATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCGTGAACTCCTGACCTCAGGTGATCTGCTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTTTTTATGACTAAAGAACAAGTTTGCTCCAGGTTCCCAAAAGGGCACATTTAGGGCTATTCCATGGAAAACCATCCCCCCACCATTACTCTTTGCCAGTGCTGCCTCTGGGTTCCTTCAGGGAATTTCCAGAGAGTAGCAGAGGTCACCTAGGGCCCAAGTGGCCCTGACTCAGGTTCTAACCTGGTGTGTGTGTGCATGCAGTCCACGCTGCGTCGCCGGAGCAAGCCGGAGCAAGCCGGAGCGGAAGGAACGCATCAGCGAGCAGACCTACCAGCTCTCACGGTGGACTCCGATTATCAAGGACATCATGGAGGTTAGTGCTGGGGCACAGGGAGGAAAAACCAGGCCCAGGGCCCTTGGCTTGTCAGCCTGGATGCTTCCAGCTTCACCTGCGGCGAGGTGCTGCTGACTTCACAGGTACTGCCTCCACTTGAGGATTTGCATCCAGGCCTCCTTCGGCCCTCATGGTGCCCCTTGCCTGGGGGTTTCTGAAGAGCTGAGAGACTGTGAAGCACAGCCCCAGATCTATTTGTTGTTATGTCTTGGAGGACTCAGCTCCTATAATAGAGACTCCTCTAGGGTGCCGCATCCAGAGGGGTCCAAGTGTATCTCAAAGGTCAGATGAGTGACATCACATCTCCACACAGGTGCAGTGGCTCAGCACACTTCCCCAGCACGGCCCTGCCTGCCCCGCCCTGCCCTCCTCCTGCTGTTCCCTACCTGAGCCTCCACACACCAGCAAATCGGATTCTGCTCCTCTGGCCAAAGCAGCCCCTTGCCTGGCATATTCTCACCCCTCCACTCCCCTTCCCAGATCCTGCTTTCCATCCAAGCCCCTCTTGAATCTTACCATTTCCATCTGCCGCCCCACCTGTCTGACCACTCAGCACACAGGGGCCTCCCCTGGACTCCTTAGTGCACATGTGCCTCTTGGTGCCTCGGGTCGCCTTTTTGTTTGTTGGTCCTGTCCCCTCAGCTGCTGTGTCATCTGCACAGAGCCTCTAGTGCAGCAGGTGTTTTTGCAGTTGTTGGCTGGAAGGTGTATAAGGTGGTGGCCACCGCAGTAGCCCTGTGGGGTCACTCCCTTCTCTCCTTGTAGCGGGAAGAGACCCTGCATAGAATCCTGCACCACTAGATCTTTCCAACTTGATTAGTGAACAAAACTGGGGTCTAGAGAATGAAGGGGTTTTTCTCGGGATCCCTTAGTTAATTCCTGGCAGCCCAGGTGTTCCTATTGAATTGTACATTAATATAAATGTATTTTAAATATATAGAGTGAGTCAGCTCCCATTTTTAAAATCCACAAACTAAAAGGATGGGTGAACATGAAACATCTAGAAACCAATTATATCTCTTTGCTTGTTGGGATAGCCAACCCCTCTGTCTCATTCCTTCCTTTGTTCTCTGCTCCCTTTTGCTCCCCCTCCTCTCCGATCCCCTAAAGAGACATGTGTAGGCTTCATGTGGGAGCTGTAAAGAAGAGTGTGGATTTCTAGGCAGCAGGAGGTAGATGGTGAGAGTCCACCCACCAGATAATTAGACACTTGAAAAACGGAGGGGGTAAGGCTTCTTCATGCAGGAGAGACACTGCTTGTGCCTGGTTTCTACAAGGCTGATGGCAAGTATCAGGAATTTATTGGACAGAATGCATCATTTATAAAACCTCACATAGATTATGAAAGTGAATAAACTGGAAGAGAAGCAAGAAAAAACTTCTCTTAAAAAGCAGGCTATCTCAGTGTAGCAGCTAGTTACAAAGCATCTGCTATAACTGAGCCCTGTGCTAGGCACCTCTGGCCGCAGGGAAGGGAGCTCTGGTTGTTGCAAACCTGGCCATGGCTTTGCCAAGTGACATGTTCTACAGATCATCTGGCCTTGGTTCCTATCAGCACTTTTCAGACAGATGGCAAGCTAATATCTGTCTCTTTTCCTTCTAGGACACTATTGAGGACAAACTTGACACCAAACACTACCCTTATATCTCTACCCGTTCCTCTGCCTCCTTCAGCACCACCGCCGTCAGGTAGGTGAAAATCCCTTAGCAAGGACAGAGGGGAGCCAGCTCTGGTTGGATGTCAGCTCTGCGGCAGACCCACTGTACGGCTGTGTGATCTACCAGAGCCCTCTCGCTGCTGCTCCCCACAGCTGCAGCGTGGGCCAGGTCTGCACAGTGGTCCCACGGCCCTTCCCCCTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGC | pathogenic | 150,374 |
A mutation at chromosome position 127678443 on chromosome 9 in gene STXBP1 (syntaxin binding protein 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_4', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | TGGGCAGGGGTTGCTGAGAAGCCGGGGGGCAGATGGAAACACAGACTATAGGGGCAGCTGCTGATGGTCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACTCTGTAGCCCAGGATGGAGTGCAGTGGTGAGATTTTGGCTCGCTGCAACCTCCACCTCCCACATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCGTGAACTCCTGACCTCAGGTGATCTGCTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTTTTTATGACTAAAGAACAAGTTTGCTCCAGGTTCCCAAAAGGGCACATTTAGGGCTATTCCATGGAAAACCATCCCCCCACCATTACTCTTTGCCAGTGCTGCCTCTGGGTTCCTTCAGGGAATTTCCAGAGAGTAGCAGAGGTCACCTAGGGCCCAAGTGGCCCTGACTCAGGTTCTAACCTGGTGTGTGTGTGCATGCAGTCCACGCTGCGTCGCCGGAGCAAGCCGGAGCGGAAGGAACGCATCAGCGAGCAGACCTACCAGCTCTCACGGTGGACTCCGATTATCAAGGACATCATGGAGGTTAGTGCTGGGGCACAGGGAGGAAAAACCAGGCCCAGGGCCCTTGGCTTGTCAGCCTGGATGCTTCCAGCTTCACCTGCGGCGAGGTGCTGCTGACTTCACAGGTACTGCCTCCACTTGAGGATTTGCATCCAGGCCTCCTTCGGCCCTCATGGTGCCCCTTGCCTGGGGGTTTCTGAAGAGCTGAGAGACTGTGAAGCACAGCCCCAGATCTATTTGTTGTTATGTCTTGGAGGACTCAGCTCCTATAATAGAGACTCCTCTAGGGTGCCGCATCCAGAGGGGTCCAAGTGTATCTCAAAGGTCAGATGAGTGACATCACATCTCCACACAGGTGCAGTGGCTCAGCACACTTCCCCAGCACGGCCCTGCCTGCCCCGCCCTGCCCTCCTCCTGCTGTTCCCTACCTGAGCCTCCACACACCAGCAAATCGGATTCTGCTCCTCTGGCCAAAGCAGCCCCTTGCCTGGCATATTCTCACCCCTCCACTCCCCTTCCCAGATCCTGCTTTCCATCCAAGCCCCTCTTGAATCTTACCATTTCCATCTGCCGCCCCACCTGTCTGACCACTCAGCACACAGGGGCCTCCCCTGGACTCCTTAGTGCACATGTGCCTCTTGGTGCCTCGGGTCGCCTTTTTGTTTGTTGGTCCTGTCCCCTCAGCTGCTGTGTCATCTGCACAGAGCCTCTAGTGCAGCAGGTGTTTTTGCAGTTGTTGGCTGGAAGGTGTATAAGGTGGTGGCCACCGCAGTAGCCCTGTGGGGTCACTCCCTTCTCTCCTTGTAGCGGGAAGAGACCCTGCATAGAATCCTGCACCACTAGATCTTTCCAACTTGATTAGTGAACAAAACTGGGGTCTAGAGAATGAAGGGGTTTTTCTCGGGATCCCTTAGTTAATTCCTGGCAGCCCAGGTGTTCCTATTGAATTGTACATTAATATAAATGTATTTTAAATATATAGAGTGAGTCAGCTCCCATTTTTAAAATCCACAAACTAAAAGGATGGGTGAACATGAAACATCTAGAAACCAATTATATCTCTTTGCTTGTTGGGATAGCCAACCCCTCTGTCTCATTCCTTCCTTTGTTCTCTGCTCCCTTTTGCTCCCCCTCCTCTCCGATCCCCTAAAGAGACATGTGTAGGCTTCATGTGGGAGCTGTAAAGAAGAGTGTGGATTTCTAGGCAGCAGGAGGTAGATGGTGAGAGTCCACCCACCAGATAATTAGACACTTGAAAAACGGAGGGGGTAAGGCTTCTTCATGCAGGAGAGACACTGCTTGTGCCTGGTTTCTACAAGGCTGATGGCAAGTATCAGGAATTTATTGGACAGAATGCATCATTTATAAAACCTCACATAGATTATGAAAGTGAATAAACTGGAAGAGAAGCAAGAAAAAACTTCTCTTAAAAAGCAGGCTATCTCAGTGTAGCAGCTAGTTACAAAGCATCTGCTATAACTGAGCCCTGTGCTAGGCACCTCTGGCCGCAGGGAAGGGAGCTCTGGTTGTTGCAAACCTGGCCATGGCTTTGCCAAGTGACATGTTCTACAGATCATCTGGCCTTGGTTCCTATCAGCACTTTTCAGACAGATGGCAAGCTAATATCTGTCTCTTTTCCTTCTAGGACACTATTGAGGACAAACTTGACACCAAACACTACCCTTATATCTCTACCCGTTCCTCTGCCTCCTTCAGCACCACCGCCGTCAGGTAGGTGAAAATCCCTTAGCAAGGACAGAGGGGAGCCAGCTCTGGTTGGATGTCAGCTCTGCGGCAGACCCACTGTACGGCTGTGTGATCTACCAGAGCCCTCTCGCTGCTGCTCCCCACAGCTGCAGCGTGGGCCAGGTCTGCACAGTGGTCCCACGGCCCTTCCCCCTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTC | TGGGCAGGGGTTGCTGAGAAGCCGGGGGGCAGATGGAAACACAGACTATAGGGGCAGCTGCTGATGGTCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACTCTGTAGCCCAGGATGGAGTGCAGTGGTGAGATTTTGGCTCGCTGCAACCTCCACCTCCCACATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCGTGAACTCCTGACCTCAGGTGATCTGCTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTTTTTATGACTAAAGAACAAGTTTGCTCCAGGTTCCCAAAAGGGCACATTTAGGGCTATTCCATGGAAAACCATCCCCCCACCATTACTCTTTGCCAGTGCTGCCTCTGGGTTCCTTCAGGGAATTTCCAGAGAGTAGCAGAGGTCACCTAGGGCCCAAGTGGCCCTGACTCAGGTTCTAACCTGGTGTGTGTGTGCATGCAGTCCACGCTGCGTCGCCGGAGCGGAAGGAACGCATCAGCGAGCAGACCTACCAGCTCTCACGGTGGACTCCGATTATCAAGGACATCATGGAGGTTAGTGCTGGGGCACAGGGAGGAAAAACCAGGCCCAGGGCCCTTGGCTTGTCAGCCTGGATGCTTCCAGCTTCACCTGCGGCGAGGTGCTGCTGACTTCACAGGTACTGCCTCCACTTGAGGATTTGCATCCAGGCCTCCTTCGGCCCTCATGGTGCCCCTTGCCTGGGGGTTTCTGAAGAGCTGAGAGACTGTGAAGCACAGCCCCAGATCTATTTGTTGTTATGTCTTGGAGGACTCAGCTCCTATAATAGAGACTCCTCTAGGGTGCCGCATCCAGAGGGGTCCAAGTGTATCTCAAAGGTCAGATGAGTGACATCACATCTCCACACAGGTGCAGTGGCTCAGCACACTTCCCCAGCACGGCCCTGCCTGCCCCGCCCTGCCCTCCTCCTGCTGTTCCCTACCTGAGCCTCCACACACCAGCAAATCGGATTCTGCTCCTCTGGCCAAAGCAGCCCCTTGCCTGGCATATTCTCACCCCTCCACTCCCCTTCCCAGATCCTGCTTTCCATCCAAGCCCCTCTTGAATCTTACCATTTCCATCTGCCGCCCCACCTGTCTGACCACTCAGCACACAGGGGCCTCCCCTGGACTCCTTAGTGCACATGTGCCTCTTGGTGCCTCGGGTCGCCTTTTTGTTTGTTGGTCCTGTCCCCTCAGCTGCTGTGTCATCTGCACAGAGCCTCTAGTGCAGCAGGTGTTTTTGCAGTTGTTGGCTGGAAGGTGTATAAGGTGGTGGCCACCGCAGTAGCCCTGTGGGGTCACTCCCTTCTCTCCTTGTAGCGGGAAGAGACCCTGCATAGAATCCTGCACCACTAGATCTTTCCAACTTGATTAGTGAACAAAACTGGGGTCTAGAGAATGAAGGGGTTTTTCTCGGGATCCCTTAGTTAATTCCTGGCAGCCCAGGTGTTCCTATTGAATTGTACATTAATATAAATGTATTTTAAATATATAGAGTGAGTCAGCTCCCATTTTTAAAATCCACAAACTAAAAGGATGGGTGAACATGAAACATCTAGAAACCAATTATATCTCTTTGCTTGTTGGGATAGCCAACCCCTCTGTCTCATTCCTTCCTTTGTTCTCTGCTCCCTTTTGCTCCCCCTCCTCTCCGATCCCCTAAAGAGACATGTGTAGGCTTCATGTGGGAGCTGTAAAGAAGAGTGTGGATTTCTAGGCAGCAGGAGGTAGATGGTGAGAGTCCACCCACCAGATAATTAGACACTTGAAAAACGGAGGGGGTAAGGCTTCTTCATGCAGGAGAGACACTGCTTGTGCCTGGTTTCTACAAGGCTGATGGCAAGTATCAGGAATTTATTGGACAGAATGCATCATTTATAAAACCTCACATAGATTATGAAAGTGAATAAACTGGAAGAGAAGCAAGAAAAAACTTCTCTTAAAAAGCAGGCTATCTCAGTGTAGCAGCTAGTTACAAAGCATCTGCTATAACTGAGCCCTGTGCTAGGCACCTCTGGCCGCAGGGAAGGGAGCTCTGGTTGTTGCAAACCTGGCCATGGCTTTGCCAAGTGACATGTTCTACAGATCATCTGGCCTTGGTTCCTATCAGCACTTTTCAGACAGATGGCAAGCTAATATCTGTCTCTTTTCCTTCTAGGACACTATTGAGGACAAACTTGACACCAAACACTACCCTTATATCTCTACCCGTTCCTCTGCCTCCTTCAGCACCACCGCCGTCAGGTAGGTGAAAATCCCTTAGCAAGGACAGAGGGGAGCCAGCTCTGGTTGGATGTCAGCTCTGCGGCAGACCCACTGTACGGCTGTGTGATCTACCAGAGCCCTCTCGCTGCTGCTCCCCACAGCTGCAGCGTGGGCCAGGTCTGCACAGTGGTCCCACGGCCCTTCCCCCTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCNNNNNNNNNN | pathogenic | 150,375 |
Mutation found at chromosome 9 position 127682387, gene STXBP1 (syntaxin binding protein 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | AGCCCTCTCGCTGCTGCTCCCCACAGCTGCAGCGTGGGCCAGGTCTGCACAGTGGTCCCACGGCCCTTCCCCCTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTC | AGCCCTCTCGCTGCTGCTCCCCACAGCTGCAGCGTGGGCCAGGTCTGCACAGTGGTCCCACGGCCCTTCCCCCTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCNNNN | benign | 150,387 |
The chromosome 9, position 127682387 genetic variant in gene STXBP1 (syntaxin binding protein 1): benign or pathogenic? If pathogenic, indicate disease(s). | benign | AGCCCTCTCGCTGCTGCTCCCCACAGCTGCAGCGTGGGCCAGGTCTGCACAGTGGTCCCACGGCCCTTCCCCCTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTC | AGCCCTCTCGCTGCTGCTCCCCACAGCTGCAGCGTGGGCCAGGTCTGCACAGTGGTCCCACGGCCCTTCCCCCTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCNNNNNN | benign | 150,388 |
The mutation in gene STXBP1 (syntaxin binding protein 1) at chromosome 9, position 127682393—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CTCGCTGCTGCTCCCCACAGCTGCAGCGTGGGCCAGGTCTGCACAGTGGTCCCACGGCCCTTCCCCCTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAG | CTCGCTGCTGCTCCCCACAGCTGCAGCGTGGGCCAGGTCTGCACAGTGGTCCCACGGCCCTTCCCCCTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGNNNNNN | benign | 150,390 |
Is chromosome 9, position 127682395, gene STXBP1 (syntaxin binding protein 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CGCTGCTGCTCCCCACAGCTGCAGCGTGGGCCAGGTCTGCACAGTGGTCCCACGGCCCTTCCCCCTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGG | CGCTGCTGCTCCCCACAGCTGCAGCGTGGGCCAGGTCTGCACAGTGGTCCCACGGCCCTTCCCCCTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGNNNN | benign | 150,391 |
Gene mutation in STXBP1 (syntaxin binding protein 1) at chromosome 9, position 127682459—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | CTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAAGTAAAAGCAGCTT | CTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAAGTAAAAGCAGCTTN | pathogenic | 150,396 |
Mutation at chromosome 9, position 127815808, within ENG (endoglin): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TTTTTTAAGGCTCTGTGCCTTGGTCTCTCCTTCCTCTTGGCTGAGATAGCAGAGGGGCTCCCCGGGTCTCTCACTGTTGCAGTGGCCTGGCCGTTCAGCCTGTCTCCCCCAACACCCCGCCTGCCTCCTGGCTCAGGCCCAGCTTATTGTGTGCGCTGCCTGGCCAGGCCCTGGGTCTTGCCATGTGCTGGGTGGTAGATTTCCTCCTCCCAGTGCCTTCTGGGAAGGGAGAGGGCCTCTGCCTGGGACACTGCGGGACAGAGGGTGGCTGGAGTGAATTAAAGCCTTTGTTTTTTAAAGAAATGGCAAAGCCTTCGACTGACCCTTGACCCCCTGCTCCCTCAGCAGAGACGGAGGGAGGGGCTGCTGGTGGTCAGGGACCTGCACTGTGTAGAGGGAGCCTGGCTGTGTGGCCTGGAACAAGTCCCTCCCTCCCTGTGCGCCTCAGGTGGCCTGTCTGTGAGATGAGAAGAAGACCAGACTGAAGCCTGTTCACCATATGCCAGGCAGTGCTTTCTGCAGACCCCCTTGCAGAGACCTTGTGATGGAGAATTATACACATTTGACAGACGAGGGAACTGTGGCTGGTTTCAAGAAGCCATGGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAAGAGGTCGAGACCATCTGGCCAACATGGTGAAACCCCGTCTCTGCTAAAAATACAAAAATTATTAGCTGGACGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGACAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGAGATAGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAGCCATGGGACCTGCCTACAGTCACAGGCCAACAAGGTGGCAGGTCCAGGATTTGAACTTAGAGCAGTCGAGGGCCTGTGTTCGGAACCCCAGAGTGAGAGTGTGGATGGGGCCTCCTGGTGTTTGCTTTCTTGCAGCCTAGACCCTGGGGTGTGCTGTCGAGTGGGTGAATGGCAGAGGGGAACTGGCTGAATGAAAACCTGCTGTGCCCTGGATGCTGCTACTGTTCAGGATGCCACCCCTGCCACCAGGCCAGCCCAGTGGGGGCCAACTACAAAAGCAGCCCTGTCCTGTGCCCTCACCCCACCCTGGCTTTGAATGTCACTGCCCTTCTCCCAGCCCAACCCATCACTGGTTTCATGGTCTGATTTATTGGTGGTGAATACACAGGGGCAGGCCCAGGACAAGCAGCTTGGCTACTCCCCCTCTGCTGGCTGCCCGACCGGCAGAGGGGGCTCCATGTGGCAGGAGCTAGGCTCCCAACGCCCACTGTTCTTGCCACCCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGACCCACTGGGTTGAAGGTTCTGTGGGGTGGAGGGACCCCAAGGTGTTCCAAGCCAGTGGCTGCACTGGCAGCAGGCCTCTGAGAGGGAGGCGGGAAGGGTAGGCGCGGAGAGCAGGCTCCATTCTGGGTCGAGTGGAGGACTGGCTCCCAGGGTGAGTTCACACCAGTGCTCCCAGCTGGCGGCTGCTCAGTCTCTCCTGCTGGGCGAGCGCGGGGGGCCGGGGCTATGCCATGCTGCTGGTGGAGCAGGGGGTGCTCTGGGTGCTCCCGATGCTGTGGTTGGTGCTGCTGCTCTCCGAGGAGGCCGGGGCAGCCACCGCCACCACGGGCTCCCGCTTGCTGGGGGAACCTGGGAGCGGGAGCGGGGGCAGGGGCGGAGGTCAGGGTCCTGGCCAGGGCCCCTCAATCCCTCAGAGGCTTCACTGGGCTCCCCCGGGTGGATGGAGGGGCCCGGCATGCTCACTGTGGGGGCCTGGGGTACTCACGCGTGTGCGAGTAGATGTACCAGAGTGCAGCAGTGAGCAGGGCCCCGATGAGGAAGGCACCAAAGGTGATGCCCAGCACGGCGGGCAGGACGAGGCCTTTGCTTGTGCAACCTAGAGAGGGCCGACGCCATCAGCACTGCCACTCTGCCCCTGCCCCATCCCCTACCCTGTTGTGCTGGCCCATGTGGGCTTTGGTGCCAGCTCTGCTCAGCCATGGACCCTCGACTTCTCTGAACCTCAGTCTCCTCTTGCAGCAAACGGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAGCCCTGCCTTCTTGGTCCTGGGCTGGGAGTGGAGGCTCCATCCTGGCCTGGATGGGGTGGCAAAGAGGTAGGTGCCCCCATCCCTCACCCCTGCCTCTGCCACCAGTGTCGGGACTCTTCTGCCTGGTGTGGGCCTGGGCCTGGGGGGAACTGATGGAGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTTTCTCTGGGGTCCCCCTTGCCATGTGCTATGTGCCCAGGCCGTTTCTCAGGGCTGCCCGCTGTGCCCTACTGTGACCTCAGCCACTAGAACAAACCCGAGAGACCTGGAGGGAGCTCACCAGACAGGTCAGGGCTGATGATGTTCAAGCGCATGAAGACAGTCCTATGGACTTCCTGGAGGAGAAAGAGAGAGCAGTATGTGGCACCTTTGGGAGGCGGCTTCCAGGTTTACTCCCTGGCTCCGTGACCCCAGCCCACCCTAGAGCCTTGGCTTTGAATCCCATCTCCACCGCTTCGTAGCTGGATGCCTCTGGGTGAGTCCTGGAAGATCTGTGCTGTGGGAGGGTGCCTAGTGGACGATCCCTGGCTGCTGCTGAAATGTTTCCTGTGAGTTCCTGGAGGCCTTGATGCCCAGGAGCACTGTGGAAGCACTATGCATCCCTCACCCTTGTGAACACTTTGGAGCTATGAGCCAGGTCAGCCCAGAGTCCCAGGCTCACTCTGGCTGGAGGGAGAGGCCCACTTAGGGGAGTTGAAGGCTTCCCTAGCTTCCTATGACCAGAGAAGTTTGTAATCCTGGAGGCCTGTCTGTGCAAGGGCCTGGGGGTGACTCTGGGGGCGTCCAGGATAGATTGCCTGAGAGTGGGGGTCACCAGATGGTGAAGTGTTGTGACTGGCAAATACAGAAAGCCAGGAGTGTGTGTCCTTTGTCCGCCTCTCTTCCCTCAGGTCTCCTGTTCTTTGAGATTACACTGGTGACCATACTACATGGATGTGCGGGTGGTTAGATTCCTGGGTGGGAGGGTGGATGGATGGATGGACGGAC | TTTTTTAAGGCTCTGTGCCTTGGTCTCTCCTTCCTCTTGGCTGAGATAGCAGAGGGGCTCCCCGGGTCTCTCACTGTTGCAGTGGCCTGGCCGTTCAGCCTGTCTCCCCCAACACCCCGCCTGCCTCCTGGCTCAGGCCCAGCTTATTGTGTGCGCTGCCTGGCCAGGCCCTGGGTCTTGCCATGTGCTGGGTGGTAGATTTCCTCCTCCCAGTGCCTTCTGGGAAGGGAGAGGGCCTCTGCCTGGGACACTGCGGGACAGAGGGTGGCTGGAGTGAATTAAAGCCTTTGTTTTTTAAAGAAATGGCAAAGCCTTCGACTGACCCTTGACCCCCTGCTCCCTCAGCAGAGACGGAGGGAGGGGCTGCTGGTGGTCAGGGACCTGCACTGTGTAGAGGGAGCCTGGCTGTGTGGCCTGGAACAAGTCCCTCCCTCCCTGTGCGCCTCAGGTGGCCTGTCTGTGAGATGAGAAGAAGACCAGACTGAAGCCTGTTCACCATATGCCAGGCAGTGCTTTCTGCAGACCCCCTTGCAGAGACCTTGTGATGGAGAATTATACACATTTGACAGACGAGGGAACTGTGGCTGGTTTCAAGAAGCCATGGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAAGAGGTCGAGACCATCTGGCCAACATGGTGAAACCCCGTCTCTGCTAAAAATACAAAAATTATTAGCTGGACGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGACAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGAGATAGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAGCCATGGGACCTGCCTACAGTCACAGGCCAACAAGGTGGCAGGTCCAGGATTTGAACTTAGAGCAGTCGAGGGCCTGTGTTCGGAACCCCAGAGTGAGAGTGTGGATGGGGCCTCCTGGTGTTTGCTTTCTTGCAGCCTAGACCCTGGGGTGTGCTGTCGAGTGGGTGAATGGCAGAGGGGAACTGGCTGAATGAAAACCTGCTGTGCCCTGGATGCTGCTACTGTTCAGGATGCCACCCCTGCCACCAGGCCAGCCCAGTGGGGGCCAACTACAAAAGCAGCCCTGTCCTGTGCCCTCACCCCACCCTGGCTTTGAATGTCACTGCCCTTCTCCCAGCCCAACCCATCACTGGTTTCATGGTCTGATTTATTGGTGGTGAATACACAGGGGCAGGCCCAGGACAAGCAGCTTGGCTACTCCCCCTCTGCTGGCTGCCCGACCGGCAGAGGGGGCTCCATGTGGCAGGAGCTAGGCTCCCAACGCCCACTGTTCTTGCCACCCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGACCCACTGGGTTGAAGGTTCTGTGGGGTGGAGGGACCCCAAGGTGTTCCAAGCCAGTGGCTGCACTGGCAGCAGGCCTCTGAGAGGGAGGCGGGAAGGGTAGGCGCGGAGAGCAGGCTCCATTCTGGGTCGAGTGGAGGACTGGCTCCCAGGGTGAGTTCACACCAGTGCTCCCAGCTGGCGGCTGCTCAGTCTCTCCTGCTGGGCGAGCGCGGGGGGCCGGGGCTATGCCATGCTGCTGGTGGAGCAGGGGGTGCTCTGGGTGCTCCCGATGCTGTGGTTGGTGCTGCTGCTCTCCGAGGAGGCCGGGGCAGCCACCGCCACCACGGGCTCCCGCTTGCTGGGGGAACCTGGGAGCGGGAGCGGGAGCGGGGGCAGGGGCGGAGGTCAGGGTCCTGGCCAGGGCCCCTCAATCCCTCAGAGGCTTCACTGGGCTCCCCCGGGTGGATGGAGGGGCCCGGCATGCTCACTGTGGGGGCCTGGGGTACTCACGCGTGTGCGAGTAGATGTACCAGAGTGCAGCAGTGAGCAGGGCCCCGATGAGGAAGGCACCAAAGGTGATGCCCAGCACGGCGGGCAGGACGAGGCCTTTGCTTGTGCAACCTAGAGAGGGCCGACGCCATCAGCACTGCCACTCTGCCCCTGCCCCATCCCCTACCCTGTTGTGCTGGCCCATGTGGGCTTTGGTGCCAGCTCTGCTCAGCCATGGACCCTCGACTTCTCTGAACCTCAGTCTCCTCTTGCAGCAAACGGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAGCCCTGCCTTCTTGGTCCTGGGCTGGGAGTGGAGGCTCCATCCTGGCCTGGATGGGGTGGCAAAGAGGTAGGTGCCCCCATCCCTCACCCCTGCCTCTGCCACCAGTGTCGGGACTCTTCTGCCTGGTGTGGGCCTGGGCCTGGGGGGAACTGATGGAGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTTTCTCTGGGGTCCCCCTTGCCATGTGCTATGTGCCCAGGCCGTTTCTCAGGGCTGCCCGCTGTGCCCTACTGTGACCTCAGCCACTAGAACAAACCCGAGAGACCTGGAGGGAGCTCACCAGACAGGTCAGGGCTGATGATGTTCAAGCGCATGAAGACAGTCCTATGGACTTCCTGGAGGAGAAAGAGAGAGCAGTATGTGGCACCTTTGGGAGGCGGCTTCCAGGTTTACTCCCTGGCTCCGTGACCCCAGCCCACCCTAGAGCCTTGGCTTTGAATCCCATCTCCACCGCTTCGTAGCTGGATGCCTCTGGGTGAGTCCTGGAAGATCTGTGCTGTGGGAGGGTGCCTAGTGGACGATCCCTGGCTGCTGCTGAAATGTTTCCTGTGAGTTCCTGGAGGCCTTGATGCCCAGGAGCACTGTGGAAGCACTATGCATCCCTCACCCTTGTGAACACTTTGGAGCTATGAGCCAGGTCAGCCCAGAGTCCCAGGCTCACTCTGGCTGGAGGGAGAGGCCCACTTAGGGGAGTTGAAGGCTTCCCTAGCTTCCTATGACCAGAGAAGTTTGTAATCCTGGAGGCCTGTCTGTGCAAGGGCCTGGGGGTGACTCTGGGGGCGTCCAGGATAGATTGCCTGAGAGTGGGGGTCACCAGATGGTGAAGTGTTGTGACTGGCAAATACAGAAAGCCAGGAGTGTGTGTCCTTTGTCCGCCTCTCTTCCCTCAGGTCTCCTGTTCTTTGAGATTACACTGGTGACCATACTACATGGATGTGCGGGTGGTTAGATTCCTGGGTGGGAGGGTGGATGGATGGATGG | benign | 150,425 |
Mutation at chromosome 9, position 127815808, within ENG (endoglin): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TTTTTTAAGGCTCTGTGCCTTGGTCTCTCCTTCCTCTTGGCTGAGATAGCAGAGGGGCTCCCCGGGTCTCTCACTGTTGCAGTGGCCTGGCCGTTCAGCCTGTCTCCCCCAACACCCCGCCTGCCTCCTGGCTCAGGCCCAGCTTATTGTGTGCGCTGCCTGGCCAGGCCCTGGGTCTTGCCATGTGCTGGGTGGTAGATTTCCTCCTCCCAGTGCCTTCTGGGAAGGGAGAGGGCCTCTGCCTGGGACACTGCGGGACAGAGGGTGGCTGGAGTGAATTAAAGCCTTTGTTTTTTAAAGAAATGGCAAAGCCTTCGACTGACCCTTGACCCCCTGCTCCCTCAGCAGAGACGGAGGGAGGGGCTGCTGGTGGTCAGGGACCTGCACTGTGTAGAGGGAGCCTGGCTGTGTGGCCTGGAACAAGTCCCTCCCTCCCTGTGCGCCTCAGGTGGCCTGTCTGTGAGATGAGAAGAAGACCAGACTGAAGCCTGTTCACCATATGCCAGGCAGTGCTTTCTGCAGACCCCCTTGCAGAGACCTTGTGATGGAGAATTATACACATTTGACAGACGAGGGAACTGTGGCTGGTTTCAAGAAGCCATGGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAAGAGGTCGAGACCATCTGGCCAACATGGTGAAACCCCGTCTCTGCTAAAAATACAAAAATTATTAGCTGGACGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGACAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGAGATAGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAGCCATGGGACCTGCCTACAGTCACAGGCCAACAAGGTGGCAGGTCCAGGATTTGAACTTAGAGCAGTCGAGGGCCTGTGTTCGGAACCCCAGAGTGAGAGTGTGGATGGGGCCTCCTGGTGTTTGCTTTCTTGCAGCCTAGACCCTGGGGTGTGCTGTCGAGTGGGTGAATGGCAGAGGGGAACTGGCTGAATGAAAACCTGCTGTGCCCTGGATGCTGCTACTGTTCAGGATGCCACCCCTGCCACCAGGCCAGCCCAGTGGGGGCCAACTACAAAAGCAGCCCTGTCCTGTGCCCTCACCCCACCCTGGCTTTGAATGTCACTGCCCTTCTCCCAGCCCAACCCATCACTGGTTTCATGGTCTGATTTATTGGTGGTGAATACACAGGGGCAGGCCCAGGACAAGCAGCTTGGCTACTCCCCCTCTGCTGGCTGCCCGACCGGCAGAGGGGGCTCCATGTGGCAGGAGCTAGGCTCCCAACGCCCACTGTTCTTGCCACCCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGACCCACTGGGTTGAAGGTTCTGTGGGGTGGAGGGACCCCAAGGTGTTCCAAGCCAGTGGCTGCACTGGCAGCAGGCCTCTGAGAGGGAGGCGGGAAGGGTAGGCGCGGAGAGCAGGCTCCATTCTGGGTCGAGTGGAGGACTGGCTCCCAGGGTGAGTTCACACCAGTGCTCCCAGCTGGCGGCTGCTCAGTCTCTCCTGCTGGGCGAGCGCGGGGGGCCGGGGCTATGCCATGCTGCTGGTGGAGCAGGGGGTGCTCTGGGTGCTCCCGATGCTGTGGTTGGTGCTGCTGCTCTCCGAGGAGGCCGGGGCAGCCACCGCCACCACGGGCTCCCGCTTGCTGGGGGAACCTGGGAGCGGGAGCGGGGGCAGGGGCGGAGGTCAGGGTCCTGGCCAGGGCCCCTCAATCCCTCAGAGGCTTCACTGGGCTCCCCCGGGTGGATGGAGGGGCCCGGCATGCTCACTGTGGGGGCCTGGGGTACTCACGCGTGTGCGAGTAGATGTACCAGAGTGCAGCAGTGAGCAGGGCCCCGATGAGGAAGGCACCAAAGGTGATGCCCAGCACGGCGGGCAGGACGAGGCCTTTGCTTGTGCAACCTAGAGAGGGCCGACGCCATCAGCACTGCCACTCTGCCCCTGCCCCATCCCCTACCCTGTTGTGCTGGCCCATGTGGGCTTTGGTGCCAGCTCTGCTCAGCCATGGACCCTCGACTTCTCTGAACCTCAGTCTCCTCTTGCAGCAAACGGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAGCCCTGCCTTCTTGGTCCTGGGCTGGGAGTGGAGGCTCCATCCTGGCCTGGATGGGGTGGCAAAGAGGTAGGTGCCCCCATCCCTCACCCCTGCCTCTGCCACCAGTGTCGGGACTCTTCTGCCTGGTGTGGGCCTGGGCCTGGGGGGAACTGATGGAGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTTTCTCTGGGGTCCCCCTTGCCATGTGCTATGTGCCCAGGCCGTTTCTCAGGGCTGCCCGCTGTGCCCTACTGTGACCTCAGCCACTAGAACAAACCCGAGAGACCTGGAGGGAGCTCACCAGACAGGTCAGGGCTGATGATGTTCAAGCGCATGAAGACAGTCCTATGGACTTCCTGGAGGAGAAAGAGAGAGCAGTATGTGGCACCTTTGGGAGGCGGCTTCCAGGTTTACTCCCTGGCTCCGTGACCCCAGCCCACCCTAGAGCCTTGGCTTTGAATCCCATCTCCACCGCTTCGTAGCTGGATGCCTCTGGGTGAGTCCTGGAAGATCTGTGCTGTGGGAGGGTGCCTAGTGGACGATCCCTGGCTGCTGCTGAAATGTTTCCTGTGAGTTCCTGGAGGCCTTGATGCCCAGGAGCACTGTGGAAGCACTATGCATCCCTCACCCTTGTGAACACTTTGGAGCTATGAGCCAGGTCAGCCCAGAGTCCCAGGCTCACTCTGGCTGGAGGGAGAGGCCCACTTAGGGGAGTTGAAGGCTTCCCTAGCTTCCTATGACCAGAGAAGTTTGTAATCCTGGAGGCCTGTCTGTGCAAGGGCCTGGGGGTGACTCTGGGGGCGTCCAGGATAGATTGCCTGAGAGTGGGGGTCACCAGATGGTGAAGTGTTGTGACTGGCAAATACAGAAAGCCAGGAGTGTGTGTCCTTTGTCCGCCTCTCTTCCCTCAGGTCTCCTGTTCTTTGAGATTACACTGGTGACCATACTACATGGATGTGCGGGTGGTTAGATTCCTGGGTGGGAGGGTGGATGGATGGATGGACGGAC | TTTTTTAAGGCTCTGTGCCTTGGTCTCTCCTTCCTCTTGGCTGAGATAGCAGAGGGGCTCCCCGGGTCTCTCACTGTTGCAGTGGCCTGGCCGTTCAGCCTGTCTCCCCCAACACCCCGCCTGCCTCCTGGCTCAGGCCCAGCTTATTGTGTGCGCTGCCTGGCCAGGCCCTGGGTCTTGCCATGTGCTGGGTGGTAGATTTCCTCCTCCCAGTGCCTTCTGGGAAGGGAGAGGGCCTCTGCCTGGGACACTGCGGGACAGAGGGTGGCTGGAGTGAATTAAAGCCTTTGTTTTTTAAAGAAATGGCAAAGCCTTCGACTGACCCTTGACCCCCTGCTCCCTCAGCAGAGACGGAGGGAGGGGCTGCTGGTGGTCAGGGACCTGCACTGTGTAGAGGGAGCCTGGCTGTGTGGCCTGGAACAAGTCCCTCCCTCCCTGTGCGCCTCAGGTGGCCTGTCTGTGAGATGAGAAGAAGACCAGACTGAAGCCTGTTCACCATATGCCAGGCAGTGCTTTCTGCAGACCCCCTTGCAGAGACCTTGTGATGGAGAATTATACACATTTGACAGACGAGGGAACTGTGGCTGGTTTCAAGAAGCCATGGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAAGAGGTCGAGACCATCTGGCCAACATGGTGAAACCCCGTCTCTGCTAAAAATACAAAAATTATTAGCTGGACGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGACAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGAGATAGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAGCCATGGGACCTGCCTACAGTCACAGGCCAACAAGGTGGCAGGTCCAGGATTTGAACTTAGAGCAGTCGAGGGCCTGTGTTCGGAACCCCAGAGTGAGAGTGTGGATGGGGCCTCCTGGTGTTTGCTTTCTTGCAGCCTAGACCCTGGGGTGTGCTGTCGAGTGGGTGAATGGCAGAGGGGAACTGGCTGAATGAAAACCTGCTGTGCCCTGGATGCTGCTACTGTTCAGGATGCCACCCCTGCCACCAGGCCAGCCCAGTGGGGGCCAACTACAAAAGCAGCCCTGTCCTGTGCCCTCACCCCACCCTGGCTTTGAATGTCACTGCCCTTCTCCCAGCCCAACCCATCACTGGTTTCATGGTCTGATTTATTGGTGGTGAATACACAGGGGCAGGCCCAGGACAAGCAGCTTGGCTACTCCCCCTCTGCTGGCTGCCCGACCGGCAGAGGGGGCTCCATGTGGCAGGAGCTAGGCTCCCAACGCCCACTGTTCTTGCCACCCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGACCCACTGGGTTGAAGGTTCTGTGGGGTGGAGGGACCCCAAGGTGTTCCAAGCCAGTGGCTGCACTGGCAGCAGGCCTCTGAGAGGGAGGCGGGAAGGGTAGGCGCGGAGAGCAGGCTCCATTCTGGGTCGAGTGGAGGACTGGCTCCCAGGGTGAGTTCACACCAGTGCTCCCAGCTGGCGGCTGCTCAGTCTCTCCTGCTGGGCGAGCGCGGGGGGCCGGGGCTATGCCATGCTGCTGGTGGAGCAGGGGGTGCTCTGGGTGCTCCCGATGCTGTGGTTGGTGCTGCTGCTCTCCGAGGAGGCCGGGGCAGCCACCGCCACCACGGGCTCCCGCTTGCTGGGGGAACCTGGGAGCGGGGGCAGGGGCGGAGGTCAGGGTCCTGGCCAGGGCCCCTCAATCCCTCAGAGGCTTCACTGGGCTCCCCCGGGTGGATGGAGGGGCCCGGCATGCTCACTGTGGGGGCCTGGGGTACTCACGCGTGTGCGAGTAGATGTACCAGAGTGCAGCAGTGAGCAGGGCCCCGATGAGGAAGGCACCAAAGGTGATGCCCAGCACGGCGGGCAGGACGAGGCCTTTGCTTGTGCAACCTAGAGAGGGCCGACGCCATCAGCACTGCCACTCTGCCCCTGCCCCATCCCCTACCCTGTTGTGCTGGCCCATGTGGGCTTTGGTGCCAGCTCTGCTCAGCCATGGACCCTCGACTTCTCTGAACCTCAGTCTCCTCTTGCAGCAAACGGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAGCCCTGCCTTCTTGGTCCTGGGCTGGGAGTGGAGGCTCCATCCTGGCCTGGATGGGGTGGCAAAGAGGTAGGTGCCCCCATCCCTCACCCCTGCCTCTGCCACCAGTGTCGGGACTCTTCTGCCTGGTGTGGGCCTGGGCCTGGGGGGAACTGATGGAGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTTTCTCTGGGGTCCCCCTTGCCATGTGCTATGTGCCCAGGCCGTTTCTCAGGGCTGCCCGCTGTGCCCTACTGTGACCTCAGCCACTAGAACAAACCCGAGAGACCTGGAGGGAGCTCACCAGACAGGTCAGGGCTGATGATGTTCAAGCGCATGAAGACAGTCCTATGGACTTCCTGGAGGAGAAAGAGAGAGCAGTATGTGGCACCTTTGGGAGGCGGCTTCCAGGTTTACTCCCTGGCTCCGTGACCCCAGCCCACCCTAGAGCCTTGGCTTTGAATCCCATCTCCACCGCTTCGTAGCTGGATGCCTCTGGGTGAGTCCTGGAAGATCTGTGCTGTGGGAGGGTGCCTAGTGGACGATCCCTGGCTGCTGCTGAAATGTTTCCTGTGAGTTCCTGGAGGCCTTGATGCCCAGGAGCACTGTGGAAGCACTATGCATCCCTCACCCTTGTGAACACTTTGGAGCTATGAGCCAGGTCAGCCCAGAGTCCCAGGCTCACTCTGGCTGGAGGGAGAGGCCCACTTAGGGGAGTTGAAGGCTTCCCTAGCTTCCTATGACCAGAGAAGTTTGTAATCCTGGAGGCCTGTCTGTGCAAGGGCCTGGGGGTGACTCTGGGGGCGTCCAGGATAGATTGCCTGAGAGTGGGGGTCACCAGATGGTGAAGTGTTGTGACTGGCAAATACAGAAAGCCAGGAGTGTGTGTCCTTTGTCCGCCTCTCTTCCCTCAGGTCTCCTGTTCTTTGAGATTACACTGGTGACCATACTACATGGATGTGCGGGTGGTTAGATTCCTGGGTGGGAGGGTGGATGGATGGATGGACGGACNNNNNN | benign | 150,426 |
Determine if the mutation at chromosome 9, position 127817152 in gene ENG is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | GACCGGCAGAGGGGGCTCCATGTGGCAGGAGCTAGGCTCCCAACGCCCACTGTTCTTGCCACCCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGACCCACTGGGTTGAAGGTTCTGTGGGGTGGAGGGACCCCAAGGTGTTCCAAGCCAGTGGCTGCACTGGCAGCAGGCCTCTGAGAGGGAGGCGGGAAGGGTAGGCGCGGAGAGCAGGCTCCATTCTGGGTCGAGTGGAGGACTGGCTCCCAGGGTGAGTTCACACCAGTGCTCCCAGCTGGCGGCTGCTCAGTCTCTCCTGCTGGGCGAGCGCGGGGGGCCGGGGCTATGCCATGCTGCTGGTGGAGCAGGGGGTGCTCTGGGTGCTCCCGATGCTGTGGTTGGTGCTGCTGCTCTCCGAGGAGGCCGGGGCAGCCACCGCCACCACGGGCTCCCGCTTGCTGGGGGAACCTGGGAGCGGGAGCGGGGGCAGGGGCGGAGGTCAGGGTCCTGGCCAGGGCCCCTCAATCCCTCAGAGGCTTCACTGGGCTCCCCCGGGTGGATGGAGGGGCCCGGCATGCTCACTGTGGGGGCCTGGGGTACTCACGCGTGTGCGAGTAGATGTACCAGAGTGCAGCAGTGAGCAGGGCCCCGATGAGGAAGGCACCAAAGGTGATGCCCAGCACGGCGGGCAGGACGAGGCCTTTGCTTGTGCAACCTAGAGAGGGCCGACGCCATCAGCACTGCCACTCTGCCCCTGCCCCATCCCCTACCCTGTTGTGCTGGCCCATGTGGGCTTTGGTGCCAGCTCTGCTCAGCCATGGACCCTCGACTTCTCTGAACCTCAGTCTCCTCTTGCAGCAAACGGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAGCCCTGCCTTCTTGGTCCTGGGCTGGGAGTGGAGGCTCCATCCTGGCCTGGATGGGGTGGCAAAGAGGTAGGTGCCCCCATCCCTCACCCCTGCCTCTGCCACCAGTGTCGGGACTCTTCTGCCTGGTGTGGGCCTGGGCCTGGGGGGAACTGATGGAGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTTTCTCTGGGGTCCCCCTTGCCATGTGCTATGTGCCCAGGCCGTTTCTCAGGGCTGCCCGCTGTGCCCTACTGTGACCTCAGCCACTAGAACAAACCCGAGAGACCTGGAGGGAGCTCACCAGACAGGTCAGGGCTGATGATGTTCAAGCGCATGAAGACAGTCCTATGGACTTCCTGGAGGAGAAAGAGAGAGCAGTATGTGGCACCTTTGGGAGGCGGCTTCCAGGTTTACTCCCTGGCTCCGTGACCCCAGCCCACCCTAGAGCCTTGGCTTTGAATCCCATCTCCACCGCTTCGTAGCTGGATGCCTCTGGGTGAGTCCTGGAAGATCTGTGCTGTGGGAGGGTGCCTAGTGGACGATCCCTGGCTGCTGCTGAAATGTTTCCTGTGAGTTCCTGGAGGCCTTGATGCCCAGGAGCACTGTGGAAGCACTATGCATCCCTCACCCTTGTGAACACTTTGGAGCTATGAGCCAGGTCAGCCCAGAGTCCCAGGCTCACTCTGGCTGGAGGGAGAGGCCCACTTAGGGGAGTTGAAGGCTTCCCTAGCTTCCTATGACCAGAGAAGTTTGTAATCCTGGAGGCCTGTCTGTGCAAGGGCCTGGGGGTGACTCTGGGGGCGTCCAGGATAGATTGCCTGAGAGTGGGGGTCACCAGATGGTGAAGTGTTGTGACTGGCAAATACAGAAAGCCAGGAGTGTGTGTCCTTTGTCCGCCTCTCTTCCCTCAGGTCTCCTGTTCTTTGAGATTACACTGGTGACCATACTACATGGATGTGCGGGTGGTTAGATTCCTGGGTGGGAGGGTGGATGGATGGATGGACGGACGGGTAAGTGAAAGGATGGATGGATGGATAGATGGACAGTGGCAGCTGCATAGTCTGCCAGTGCCCCAGACACAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGACAGCAGGCTCACACAGTTGCCCTTGGCCGCCCGGCCCTGGATGAGTTCCACGGTGCCTCCCTCAGGCCCCAAGTCCAGGTGGCAGCTGTCTAACTGGAGCAGGAACTCGGAGACGGATGGGGACACTCTGACCTGCATGGGTAGGTAGGGCCACGCGGCATGGGCAGCTGCTCTTCACCCCACCCCACCTGCTGCCTTCAAATATCGGCTAGAATTAAGAGTTCCCACCCCTGAGTCCTCACAGTGGAAAGAAAGACATGGACCTGTCTGGGGCAGAGGAGGAGGACAGGGCCACATCCTTGTCAGTGTCCCTGAGCAATGCCTTCTCTGTCTCTCCCTCTCCCGTGCACCCAGGCTGTCTCCCTCCTGACTCTGGGAGTCTCATCTCCTCTGGAGTCATGGTGGGAAGAAAGGCGGAGAGGAAGTTCCAGGAGCTGGGAGGCCCGAGGGGTGACAGGCATGCCAGGTACCTGCACAAAGCTCTGCTGCCCCGGCTCGATGGTGTTGGAGGCCTGGAGGAAGTGTGGGCTGAGGTAGAGGCCCAGCTGGAAAGAGAGGCTGTCCATGTTGAGGCAGTGCACCTTTTTCTGGGGGAGGACGGGAGGGAGACTTGGTCAATCTGGCGGCGCCAGCCAGGAGGGCGAGGGGTGTGGGGAGGAACAGGCATCATGGCCCTGTGGAGTTGCCTGACTCTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGATACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCTTCACCTCGTGATCTGCCCGCCTCGGCCTCCCAAA | GACCGGCAGAGGGGGCTCCATGTGGCAGGAGCTAGGCTCCCAACGCCCACTGTTCTTGCCACCCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGACCCACTGGGTTGAAGGTTCTGTGGGGTGGAGGGACCCCAAGGTGTTCCAAGCCAGTGGCTGCACTGGCAGCAGGCCTCTGAGAGGGAGGCGGGAAGGGTAGGCGCGGAGAGCAGGCTCCATTCTGGGTCGAGTGGAGGACTGGCTCCCAGGGTGAGTTCACACCAGTGCTCCCAGCTGGCGGCTGCTCAGTCTCTCCTGCTGGGCGAGCGCGGGGGGCCGGGGCTATGCCATGCTGCTGGTGGAGCAGGGGGTGCTCTGGGTGCTCCCGATGCTGTGGTTGGTGCTGCTGCTCTCCGAGGAGGCCGGGGCAGCCACCGCCACCACGGGCTCCCGCTTGCTGGGGGAACCTGGGAGCGGGAGCGGGGGCAGGGGCGGAGGTCAGGGTCCTGGCCAGGGCCCCTCAATCCCTCAGAGGCTTCACTGGGCTCCCCCGGGTGGATGGAGGGGCCCGGCATGCTCACTGTGGGGGCCTGGGGTACTCACGCGTGTGCGAGTAGATGTACCAGAGTGCAGCAGTGAGCAGGGCCCCGATGAGGAAGGCACCAAAGGTGATGCCCAGCACGGCGGGCAGGACGAGGCCTTTGCTTGTGCAACCTAGAGAGGGCCGACGCCATCAGCACTGCCACTCTGCCCCTGCCCCATCCCCTACCCTGTTGTGCTGGCCCATGTGGGCTTTGGTGCCAGCTCTGCTCAGCCATGGACCCTCGACTTCTCTGAACCTCAGTCTCCTCTTGCAGCAAACGGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAGCCCTGCCTTCTTGGTCCTGGGCTGGGAGTGGAGGCTCCATCCTGGCCTGGATGGGGTGGCAAAGAGGTAGGTGCCCCCATCCCTCACCCCTGCCTCTGCCACCAGTGTCGGGACTCTTCTGCCTGGTGTGGGCCTGGGCCTGGGGGGAACTGATGGAGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTTTCTCTGGGGTCCCCCTTGCCATGTGCTATGTGCCCAGGCCGTTTCTCAGGGCTGCCCGCTGTGCCCTACTGTGACCTCAGCCACTAGAACAAACCCGAGAGACCTGGAGGGAGCTCACCAGACAGGGCTGATGATGTTCAAGCGCATGAAGACAGTCCTATGGACTTCCTGGAGGAGAAAGAGAGAGCAGTATGTGGCACCTTTGGGAGGCGGCTTCCAGGTTTACTCCCTGGCTCCGTGACCCCAGCCCACCCTAGAGCCTTGGCTTTGAATCCCATCTCCACCGCTTCGTAGCTGGATGCCTCTGGGTGAGTCCTGGAAGATCTGTGCTGTGGGAGGGTGCCTAGTGGACGATCCCTGGCTGCTGCTGAAATGTTTCCTGTGAGTTCCTGGAGGCCTTGATGCCCAGGAGCACTGTGGAAGCACTATGCATCCCTCACCCTTGTGAACACTTTGGAGCTATGAGCCAGGTCAGCCCAGAGTCCCAGGCTCACTCTGGCTGGAGGGAGAGGCCCACTTAGGGGAGTTGAAGGCTTCCCTAGCTTCCTATGACCAGAGAAGTTTGTAATCCTGGAGGCCTGTCTGTGCAAGGGCCTGGGGGTGACTCTGGGGGCGTCCAGGATAGATTGCCTGAGAGTGGGGGTCACCAGATGGTGAAGTGTTGTGACTGGCAAATACAGAAAGCCAGGAGTGTGTGTCCTTTGTCCGCCTCTCTTCCCTCAGGTCTCCTGTTCTTTGAGATTACACTGGTGACCATACTACATGGATGTGCGGGTGGTTAGATTCCTGGGTGGGAGGGTGGATGGATGGATGGACGGACGGGTAAGTGAAAGGATGGATGGATGGATAGATGGACAGTGGCAGCTGCATAGTCTGCCAGTGCCCCAGACACAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGACAGCAGGCTCACACAGTTGCCCTTGGCCGCCCGGCCCTGGATGAGTTCCACGGTGCCTCCCTCAGGCCCCAAGTCCAGGTGGCAGCTGTCTAACTGGAGCAGGAACTCGGAGACGGATGGGGACACTCTGACCTGCATGGGTAGGTAGGGCCACGCGGCATGGGCAGCTGCTCTTCACCCCACCCCACCTGCTGCCTTCAAATATCGGCTAGAATTAAGAGTTCCCACCCCTGAGTCCTCACAGTGGAAAGAAAGACATGGACCTGTCTGGGGCAGAGGAGGAGGACAGGGCCACATCCTTGTCAGTGTCCCTGAGCAATGCCTTCTCTGTCTCTCCCTCTCCCGTGCACCCAGGCTGTCTCCCTCCTGACTCTGGGAGTCTCATCTCCTCTGGAGTCATGGTGGGAAGAAAGGCGGAGAGGAAGTTCCAGGAGCTGGGAGGCCCGAGGGGTGACAGGCATGCCAGGTACCTGCACAAAGCTCTGCTGCCCCGGCTCGATGGTGTTGGAGGCCTGGAGGAAGTGTGGGCTGAGGTAGAGGCCCAGCTGGAAAGAGAGGCTGTCCATGTTGAGGCAGTGCACCTTTTTCTGGGGGAGGACGGGAGGGAGACTTGGTCAATCTGGCGGCGCCAGCCAGGAGGGCGAGGGGTGTGGGGAGGAACAGGCATCATGGCCCTGTGGAGTTGCCTGACTCTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGATACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCTTCACCTCGTGATCTGCCCGCCTCGGCCTCCCAAANNNNN | pathogenic | 150,445 |
Regarding the variant at chromosome 9 and position 127817188, affecting gene ENG: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Telangiectasia,_hereditary_hemorrhagic,_type_1'] | CTCCCAACGCCCACTGTTCTTGCCACCCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGACCCACTGGGTTGAAGGTTCTGTGGGGTGGAGGGACCCCAAGGTGTTCCAAGCCAGTGGCTGCACTGGCAGCAGGCCTCTGAGAGGGAGGCGGGAAGGGTAGGCGCGGAGAGCAGGCTCCATTCTGGGTCGAGTGGAGGACTGGCTCCCAGGGTGAGTTCACACCAGTGCTCCCAGCTGGCGGCTGCTCAGTCTCTCCTGCTGGGCGAGCGCGGGGGGCCGGGGCTATGCCATGCTGCTGGTGGAGCAGGGGGTGCTCTGGGTGCTCCCGATGCTGTGGTTGGTGCTGCTGCTCTCCGAGGAGGCCGGGGCAGCCACCGCCACCACGGGCTCCCGCTTGCTGGGGGAACCTGGGAGCGGGAGCGGGGGCAGGGGCGGAGGTCAGGGTCCTGGCCAGGGCCCCTCAATCCCTCAGAGGCTTCACTGGGCTCCCCCGGGTGGATGGAGGGGCCCGGCATGCTCACTGTGGGGGCCTGGGGTACTCACGCGTGTGCGAGTAGATGTACCAGAGTGCAGCAGTGAGCAGGGCCCCGATGAGGAAGGCACCAAAGGTGATGCCCAGCACGGCGGGCAGGACGAGGCCTTTGCTTGTGCAACCTAGAGAGGGCCGACGCCATCAGCACTGCCACTCTGCCCCTGCCCCATCCCCTACCCTGTTGTGCTGGCCCATGTGGGCTTTGGTGCCAGCTCTGCTCAGCCATGGACCCTCGACTTCTCTGAACCTCAGTCTCCTCTTGCAGCAAACGGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAGCCCTGCCTTCTTGGTCCTGGGCTGGGAGTGGAGGCTCCATCCTGGCCTGGATGGGGTGGCAAAGAGGTAGGTGCCCCCATCCCTCACCCCTGCCTCTGCCACCAGTGTCGGGACTCTTCTGCCTGGTGTGGGCCTGGGCCTGGGGGGAACTGATGGAGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTTTCTCTGGGGTCCCCCTTGCCATGTGCTATGTGCCCAGGCCGTTTCTCAGGGCTGCCCGCTGTGCCCTACTGTGACCTCAGCCACTAGAACAAACCCGAGAGACCTGGAGGGAGCTCACCAGACAGGTCAGGGCTGATGATGTTCAAGCGCATGAAGACAGTCCTATGGACTTCCTGGAGGAGAAAGAGAGAGCAGTATGTGGCACCTTTGGGAGGCGGCTTCCAGGTTTACTCCCTGGCTCCGTGACCCCAGCCCACCCTAGAGCCTTGGCTTTGAATCCCATCTCCACCGCTTCGTAGCTGGATGCCTCTGGGTGAGTCCTGGAAGATCTGTGCTGTGGGAGGGTGCCTAGTGGACGATCCCTGGCTGCTGCTGAAATGTTTCCTGTGAGTTCCTGGAGGCCTTGATGCCCAGGAGCACTGTGGAAGCACTATGCATCCCTCACCCTTGTGAACACTTTGGAGCTATGAGCCAGGTCAGCCCAGAGTCCCAGGCTCACTCTGGCTGGAGGGAGAGGCCCACTTAGGGGAGTTGAAGGCTTCCCTAGCTTCCTATGACCAGAGAAGTTTGTAATCCTGGAGGCCTGTCTGTGCAAGGGCCTGGGGGTGACTCTGGGGGCGTCCAGGATAGATTGCCTGAGAGTGGGGGTCACCAGATGGTGAAGTGTTGTGACTGGCAAATACAGAAAGCCAGGAGTGTGTGTCCTTTGTCCGCCTCTCTTCCCTCAGGTCTCCTGTTCTTTGAGATTACACTGGTGACCATACTACATGGATGTGCGGGTGGTTAGATTCCTGGGTGGGAGGGTGGATGGATGGATGGACGGACGGGTAAGTGAAAGGATGGATGGATGGATAGATGGACAGTGGCAGCTGCATAGTCTGCCAGTGCCCCAGACACAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGACAGCAGGCTCACACAGTTGCCCTTGGCCGCCCGGCCCTGGATGAGTTCCACGGTGCCTCCCTCAGGCCCCAAGTCCAGGTGGCAGCTGTCTAACTGGAGCAGGAACTCGGAGACGGATGGGGACACTCTGACCTGCATGGGTAGGTAGGGCCACGCGGCATGGGCAGCTGCTCTTCACCCCACCCCACCTGCTGCCTTCAAATATCGGCTAGAATTAAGAGTTCCCACCCCTGAGTCCTCACAGTGGAAAGAAAGACATGGACCTGTCTGGGGCAGAGGAGGAGGACAGGGCCACATCCTTGTCAGTGTCCCTGAGCAATGCCTTCTCTGTCTCTCCCTCTCCCGTGCACCCAGGCTGTCTCCCTCCTGACTCTGGGAGTCTCATCTCCTCTGGAGTCATGGTGGGAAGAAAGGCGGAGAGGAAGTTCCAGGAGCTGGGAGGCCCGAGGGGTGACAGGCATGCCAGGTACCTGCACAAAGCTCTGCTGCCCCGGCTCGATGGTGTTGGAGGCCTGGAGGAAGTGTGGGCTGAGGTAGAGGCCCAGCTGGAAAGAGAGGCTGTCCATGTTGAGGCAGTGCACCTTTTTCTGGGGGAGGACGGGAGGGAGACTTGGTCAATCTGGCGGCGCCAGCCAGGAGGGCGAGGGGTGTGGGGAGGAACAGGCATCATGGCCCTGTGGAGTTGCCTGACTCTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGATACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCTTCACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACTGCGCCCGGC | CTCCCAACGCCCACTGTTCTTGCCACCCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGACCCACTGGGTTGAAGGTTCTGTGGGGTGGAGGGACCCCAAGGTGTTCCAAGCCAGTGGCTGCACTGGCAGCAGGCCTCTGAGAGGGAGGCGGGAAGGGTAGGCGCGGAGAGCAGGCTCCATTCTGGGTCGAGTGGAGGACTGGCTCCCAGGGTGAGTTCACACCAGTGCTCCCAGCTGGCGGCTGCTCAGTCTCTCCTGCTGGGCGAGCGCGGGGGGCCGGGGCTATGCCATGCTGCTGGTGGAGCAGGGGGTGCTCTGGGTGCTCCCGATGCTGTGGTTGGTGCTGCTGCTCTCCGAGGAGGCCGGGGCAGCCACCGCCACCACGGGCTCCCGCTTGCTGGGGGAACCTGGGAGCGGGAGCGGGGGCAGGGGCGGAGGTCAGGGTCCTGGCCAGGGCCCCTCAATCCCTCAGAGGCTTCACTGGGCTCCCCCGGGTGGATGGAGGGGCCCGGCATGCTCACTGTGGGGGCCTGGGGTACTCACGCGTGTGCGAGTAGATGTACCAGAGTGCAGCAGTGAGCAGGGCCCCGATGAGGAAGGCACCAAAGGTGATGCCCAGCACGGCGGGCAGGACGAGGCCTTTGCTTGTGCAACCTAGAGAGGGCCGACGCCATCAGCACTGCCACTCTGCCCCTGCCCCATCCCCTACCCTGTTGTGCTGGCCCATGTGGGCTTTGGTGCCAGCTCTGCTCAGCCATGGACCCTCGACTTCTCTGAACCTCAGTCTCCTCTTGCAGCAAACGGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAGCCCTGCCTTCTTGGTCCTGGGCTGGGAGTGGAGGCTCCATCCTGGCCTGGATGGGGTGGCAAAGAGGTAGGTGCCCCCATCCCTCACCCCTGCCTCTGCCACCAGTGTCGGGACTCTTCTGCCTGGTGTGGGCCTGGGCCTGGGGGGAACTGATGGAGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTTTCTCTGGGGTCCCCCTTGCCATGTGCTATGTGCCCAGGCCGTTTCTCAGGGCTGCCCGCTGTGCCCTACTGTGACCTCAGCCACTAGAACAAACCCGAGAGACCTGGAGGGAGCTCACCAGACAGGTCAGGGCTGATGATGTTCAAGCGCATGAAGACGTCCTATGGACTTCCTGGAGGAGAAAGAGAGAGCAGTATGTGGCACCTTTGGGAGGCGGCTTCCAGGTTTACTCCCTGGCTCCGTGACCCCAGCCCACCCTAGAGCCTTGGCTTTGAATCCCATCTCCACCGCTTCGTAGCTGGATGCCTCTGGGTGAGTCCTGGAAGATCTGTGCTGTGGGAGGGTGCCTAGTGGACGATCCCTGGCTGCTGCTGAAATGTTTCCTGTGAGTTCCTGGAGGCCTTGATGCCCAGGAGCACTGTGGAAGCACTATGCATCCCTCACCCTTGTGAACACTTTGGAGCTATGAGCCAGGTCAGCCCAGAGTCCCAGGCTCACTCTGGCTGGAGGGAGAGGCCCACTTAGGGGAGTTGAAGGCTTCCCTAGCTTCCTATGACCAGAGAAGTTTGTAATCCTGGAGGCCTGTCTGTGCAAGGGCCTGGGGGTGACTCTGGGGGCGTCCAGGATAGATTGCCTGAGAGTGGGGGTCACCAGATGGTGAAGTGTTGTGACTGGCAAATACAGAAAGCCAGGAGTGTGTGTCCTTTGTCCGCCTCTCTTCCCTCAGGTCTCCTGTTCTTTGAGATTACACTGGTGACCATACTACATGGATGTGCGGGTGGTTAGATTCCTGGGTGGGAGGGTGGATGGATGGATGGACGGACGGGTAAGTGAAAGGATGGATGGATGGATAGATGGACAGTGGCAGCTGCATAGTCTGCCAGTGCCCCAGACACAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGACAGCAGGCTCACACAGTTGCCCTTGGCCGCCCGGCCCTGGATGAGTTCCACGGTGCCTCCCTCAGGCCCCAAGTCCAGGTGGCAGCTGTCTAACTGGAGCAGGAACTCGGAGACGGATGGGGACACTCTGACCTGCATGGGTAGGTAGGGCCACGCGGCATGGGCAGCTGCTCTTCACCCCACCCCACCTGCTGCCTTCAAATATCGGCTAGAATTAAGAGTTCCCACCCCTGAGTCCTCACAGTGGAAAGAAAGACATGGACCTGTCTGGGGCAGAGGAGGAGGACAGGGCCACATCCTTGTCAGTGTCCCTGAGCAATGCCTTCTCTGTCTCTCCCTCTCCCGTGCACCCAGGCTGTCTCCCTCCTGACTCTGGGAGTCTCATCTCCTCTGGAGTCATGGTGGGAAGAAAGGCGGAGAGGAAGTTCCAGGAGCTGGGAGGCCCGAGGGGTGACAGGCATGCCAGGTACCTGCACAAAGCTCTGCTGCCCCGGCTCGATGGTGTTGGAGGCCTGGAGGAAGTGTGGGCTGAGGTAGAGGCCCAGCTGGAAAGAGAGGCTGTCCATGTTGAGGCAGTGCACCTTTTTCTGGGGGAGGACGGGAGGGAGACTTGGTCAATCTGGCGGCGCCAGCCAGGAGGGCGAGGGGTGTGGGGAGGAACAGGCATCATGGCCCTGTGGAGTTGCCTGACTCTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGATACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCTTCACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACTGCGCCCGGCN | pathogenic | 150,449 |
Determine if the mutation at chromosome 9, position 127817190 in gene ENG is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_hemorrhagic_telangiectasia', 'Telangiectasia,_hereditary_hemorrhagic,_type_1'] | CCCAACGCCCACTGTTCTTGCCACCCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGACCCACTGGGTTGAAGGTTCTGTGGGGTGGAGGGACCCCAAGGTGTTCCAAGCCAGTGGCTGCACTGGCAGCAGGCCTCTGAGAGGGAGGCGGGAAGGGTAGGCGCGGAGAGCAGGCTCCATTCTGGGTCGAGTGGAGGACTGGCTCCCAGGGTGAGTTCACACCAGTGCTCCCAGCTGGCGGCTGCTCAGTCTCTCCTGCTGGGCGAGCGCGGGGGGCCGGGGCTATGCCATGCTGCTGGTGGAGCAGGGGGTGCTCTGGGTGCTCCCGATGCTGTGGTTGGTGCTGCTGCTCTCCGAGGAGGCCGGGGCAGCCACCGCCACCACGGGCTCCCGCTTGCTGGGGGAACCTGGGAGCGGGAGCGGGGGCAGGGGCGGAGGTCAGGGTCCTGGCCAGGGCCCCTCAATCCCTCAGAGGCTTCACTGGGCTCCCCCGGGTGGATGGAGGGGCCCGGCATGCTCACTGTGGGGGCCTGGGGTACTCACGCGTGTGCGAGTAGATGTACCAGAGTGCAGCAGTGAGCAGGGCCCCGATGAGGAAGGCACCAAAGGTGATGCCCAGCACGGCGGGCAGGACGAGGCCTTTGCTTGTGCAACCTAGAGAGGGCCGACGCCATCAGCACTGCCACTCTGCCCCTGCCCCATCCCCTACCCTGTTGTGCTGGCCCATGTGGGCTTTGGTGCCAGCTCTGCTCAGCCATGGACCCTCGACTTCTCTGAACCTCAGTCTCCTCTTGCAGCAAACGGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAGCCCTGCCTTCTTGGTCCTGGGCTGGGAGTGGAGGCTCCATCCTGGCCTGGATGGGGTGGCAAAGAGGTAGGTGCCCCCATCCCTCACCCCTGCCTCTGCCACCAGTGTCGGGACTCTTCTGCCTGGTGTGGGCCTGGGCCTGGGGGGAACTGATGGAGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTTTCTCTGGGGTCCCCCTTGCCATGTGCTATGTGCCCAGGCCGTTTCTCAGGGCTGCCCGCTGTGCCCTACTGTGACCTCAGCCACTAGAACAAACCCGAGAGACCTGGAGGGAGCTCACCAGACAGGTCAGGGCTGATGATGTTCAAGCGCATGAAGACAGTCCTATGGACTTCCTGGAGGAGAAAGAGAGAGCAGTATGTGGCACCTTTGGGAGGCGGCTTCCAGGTTTACTCCCTGGCTCCGTGACCCCAGCCCACCCTAGAGCCTTGGCTTTGAATCCCATCTCCACCGCTTCGTAGCTGGATGCCTCTGGGTGAGTCCTGGAAGATCTGTGCTGTGGGAGGGTGCCTAGTGGACGATCCCTGGCTGCTGCTGAAATGTTTCCTGTGAGTTCCTGGAGGCCTTGATGCCCAGGAGCACTGTGGAAGCACTATGCATCCCTCACCCTTGTGAACACTTTGGAGCTATGAGCCAGGTCAGCCCAGAGTCCCAGGCTCACTCTGGCTGGAGGGAGAGGCCCACTTAGGGGAGTTGAAGGCTTCCCTAGCTTCCTATGACCAGAGAAGTTTGTAATCCTGGAGGCCTGTCTGTGCAAGGGCCTGGGGGTGACTCTGGGGGCGTCCAGGATAGATTGCCTGAGAGTGGGGGTCACCAGATGGTGAAGTGTTGTGACTGGCAAATACAGAAAGCCAGGAGTGTGTGTCCTTTGTCCGCCTCTCTTCCCTCAGGTCTCCTGTTCTTTGAGATTACACTGGTGACCATACTACATGGATGTGCGGGTGGTTAGATTCCTGGGTGGGAGGGTGGATGGATGGATGGACGGACGGGTAAGTGAAAGGATGGATGGATGGATAGATGGACAGTGGCAGCTGCATAGTCTGCCAGTGCCCCAGACACAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGACAGCAGGCTCACACAGTTGCCCTTGGCCGCCCGGCCCTGGATGAGTTCCACGGTGCCTCCCTCAGGCCCCAAGTCCAGGTGGCAGCTGTCTAACTGGAGCAGGAACTCGGAGACGGATGGGGACACTCTGACCTGCATGGGTAGGTAGGGCCACGCGGCATGGGCAGCTGCTCTTCACCCCACCCCACCTGCTGCCTTCAAATATCGGCTAGAATTAAGAGTTCCCACCCCTGAGTCCTCACAGTGGAAAGAAAGACATGGACCTGTCTGGGGCAGAGGAGGAGGACAGGGCCACATCCTTGTCAGTGTCCCTGAGCAATGCCTTCTCTGTCTCTCCCTCTCCCGTGCACCCAGGCTGTCTCCCTCCTGACTCTGGGAGTCTCATCTCCTCTGGAGTCATGGTGGGAAGAAAGGCGGAGAGGAAGTTCCAGGAGCTGGGAGGCCCGAGGGGTGACAGGCATGCCAGGTACCTGCACAAAGCTCTGCTGCCCCGGCTCGATGGTGTTGGAGGCCTGGAGGAAGTGTGGGCTGAGGTAGAGGCCCAGCTGGAAAGAGAGGCTGTCCATGTTGAGGCAGTGCACCTTTTTCTGGGGGAGGACGGGAGGGAGACTTGGTCAATCTGGCGGCGCCAGCCAGGAGGGCGAGGGGTGTGGGGAGGAACAGGCATCATGGCCCTGTGGAGTTGCCTGACTCTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGATACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCTTCACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACTGCGCCCGGCCC | CCCAACGCCCACTGTTCTTGCCACCCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGACCCACTGGGTTGAAGGTTCTGTGGGGTGGAGGGACCCCAAGGTGTTCCAAGCCAGTGGCTGCACTGGCAGCAGGCCTCTGAGAGGGAGGCGGGAAGGGTAGGCGCGGAGAGCAGGCTCCATTCTGGGTCGAGTGGAGGACTGGCTCCCAGGGTGAGTTCACACCAGTGCTCCCAGCTGGCGGCTGCTCAGTCTCTCCTGCTGGGCGAGCGCGGGGGGCCGGGGCTATGCCATGCTGCTGGTGGAGCAGGGGGTGCTCTGGGTGCTCCCGATGCTGTGGTTGGTGCTGCTGCTCTCCGAGGAGGCCGGGGCAGCCACCGCCACCACGGGCTCCCGCTTGCTGGGGGAACCTGGGAGCGGGAGCGGGGGCAGGGGCGGAGGTCAGGGTCCTGGCCAGGGCCCCTCAATCCCTCAGAGGCTTCACTGGGCTCCCCCGGGTGGATGGAGGGGCCCGGCATGCTCACTGTGGGGGCCTGGGGTACTCACGCGTGTGCGAGTAGATGTACCAGAGTGCAGCAGTGAGCAGGGCCCCGATGAGGAAGGCACCAAAGGTGATGCCCAGCACGGCGGGCAGGACGAGGCCTTTGCTTGTGCAACCTAGAGAGGGCCGACGCCATCAGCACTGCCACTCTGCCCCTGCCCCATCCCCTACCCTGTTGTGCTGGCCCATGTGGGCTTTGGTGCCAGCTCTGCTCAGCCATGGACCCTCGACTTCTCTGAACCTCAGTCTCCTCTTGCAGCAAACGGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAGCCCTGCCTTCTTGGTCCTGGGCTGGGAGTGGAGGCTCCATCCTGGCCTGGATGGGGTGGCAAAGAGGTAGGTGCCCCCATCCCTCACCCCTGCCTCTGCCACCAGTGTCGGGACTCTTCTGCCTGGTGTGGGCCTGGGCCTGGGGGGAACTGATGGAGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTTTCTCTGGGGTCCCCCTTGCCATGTGCTATGTGCCCAGGCCGTTTCTCAGGGCTGCCCGCTGTGCCCTACTGTGACCTCAGCCACTAGAACAAACCCGAGAGACCTGGAGGGAGCTCACCAGACAGGTCAGGGCTGATGATGTTCAAGCGCATGAAGACAGTCCTGGAGGAGAAAGAGAGAGCAGTATGTGGCACCTTTGGGAGGCGGCTTCCAGGTTTACTCCCTGGCTCCGTGACCCCAGCCCACCCTAGAGCCTTGGCTTTGAATCCCATCTCCACCGCTTCGTAGCTGGATGCCTCTGGGTGAGTCCTGGAAGATCTGTGCTGTGGGAGGGTGCCTAGTGGACGATCCCTGGCTGCTGCTGAAATGTTTCCTGTGAGTTCCTGGAGGCCTTGATGCCCAGGAGCACTGTGGAAGCACTATGCATCCCTCACCCTTGTGAACACTTTGGAGCTATGAGCCAGGTCAGCCCAGAGTCCCAGGCTCACTCTGGCTGGAGGGAGAGGCCCACTTAGGGGAGTTGAAGGCTTCCCTAGCTTCCTATGACCAGAGAAGTTTGTAATCCTGGAGGCCTGTCTGTGCAAGGGCCTGGGGGTGACTCTGGGGGCGTCCAGGATAGATTGCCTGAGAGTGGGGGTCACCAGATGGTGAAGTGTTGTGACTGGCAAATACAGAAAGCCAGGAGTGTGTGTCCTTTGTCCGCCTCTCTTCCCTCAGGTCTCCTGTTCTTTGAGATTACACTGGTGACCATACTACATGGATGTGCGGGTGGTTAGATTCCTGGGTGGGAGGGTGGATGGATGGATGGACGGACGGGTAAGTGAAAGGATGGATGGATGGATAGATGGACAGTGGCAGCTGCATAGTCTGCCAGTGCCCCAGACACAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGACAGCAGGCTCACACAGTTGCCCTTGGCCGCCCGGCCCTGGATGAGTTCCACGGTGCCTCCCTCAGGCCCCAAGTCCAGGTGGCAGCTGTCTAACTGGAGCAGGAACTCGGAGACGGATGGGGACACTCTGACCTGCATGGGTAGGTAGGGCCACGCGGCATGGGCAGCTGCTCTTCACCCCACCCCACCTGCTGCCTTCAAATATCGGCTAGAATTAAGAGTTCCCACCCCTGAGTCCTCACAGTGGAAAGAAAGACATGGACCTGTCTGGGGCAGAGGAGGAGGACAGGGCCACATCCTTGTCAGTGTCCCTGAGCAATGCCTTCTCTGTCTCTCCCTCTCCCGTGCACCCAGGCTGTCTCCCTCCTGACTCTGGGAGTCTCATCTCCTCTGGAGTCATGGTGGGAAGAAAGGCGGAGAGGAAGTTCCAGGAGCTGGGAGGCCCGAGGGGTGACAGGCATGCCAGGTACCTGCACAAAGCTCTGCTGCCCCGGCTCGATGGTGTTGGAGGCCTGGAGGAAGTGTGGGCTGAGGTAGAGGCCCAGCTGGAAAGAGAGGCTGTCCATGTTGAGGCAGTGCACCTTTTTCTGGGGGAGGACGGGAGGGAGACTTGGTCAATCTGGCGGCGCCAGCCAGGAGGGCGAGGGGTGTGGGGAGGAACAGGCATCATGGCCCTGTGGAGTTGCCTGACTCTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGATACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCTTCACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACTGCGCCCGGCCCNNNNNNNNNNN | pathogenic | 150,450 |
Is the chromosome 9, position 127817191 variant in ENG clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | CCAACGCCCACTGTTCTTGCCACCCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGACCCACTGGGTTGAAGGTTCTGTGGGGTGGAGGGACCCCAAGGTGTTCCAAGCCAGTGGCTGCACTGGCAGCAGGCCTCTGAGAGGGAGGCGGGAAGGGTAGGCGCGGAGAGCAGGCTCCATTCTGGGTCGAGTGGAGGACTGGCTCCCAGGGTGAGTTCACACCAGTGCTCCCAGCTGGCGGCTGCTCAGTCTCTCCTGCTGGGCGAGCGCGGGGGGCCGGGGCTATGCCATGCTGCTGGTGGAGCAGGGGGTGCTCTGGGTGCTCCCGATGCTGTGGTTGGTGCTGCTGCTCTCCGAGGAGGCCGGGGCAGCCACCGCCACCACGGGCTCCCGCTTGCTGGGGGAACCTGGGAGCGGGAGCGGGGGCAGGGGCGGAGGTCAGGGTCCTGGCCAGGGCCCCTCAATCCCTCAGAGGCTTCACTGGGCTCCCCCGGGTGGATGGAGGGGCCCGGCATGCTCACTGTGGGGGCCTGGGGTACTCACGCGTGTGCGAGTAGATGTACCAGAGTGCAGCAGTGAGCAGGGCCCCGATGAGGAAGGCACCAAAGGTGATGCCCAGCACGGCGGGCAGGACGAGGCCTTTGCTTGTGCAACCTAGAGAGGGCCGACGCCATCAGCACTGCCACTCTGCCCCTGCCCCATCCCCTACCCTGTTGTGCTGGCCCATGTGGGCTTTGGTGCCAGCTCTGCTCAGCCATGGACCCTCGACTTCTCTGAACCTCAGTCTCCTCTTGCAGCAAACGGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAGCCCTGCCTTCTTGGTCCTGGGCTGGGAGTGGAGGCTCCATCCTGGCCTGGATGGGGTGGCAAAGAGGTAGGTGCCCCCATCCCTCACCCCTGCCTCTGCCACCAGTGTCGGGACTCTTCTGCCTGGTGTGGGCCTGGGCCTGGGGGGAACTGATGGAGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTTTCTCTGGGGTCCCCCTTGCCATGTGCTATGTGCCCAGGCCGTTTCTCAGGGCTGCCCGCTGTGCCCTACTGTGACCTCAGCCACTAGAACAAACCCGAGAGACCTGGAGGGAGCTCACCAGACAGGTCAGGGCTGATGATGTTCAAGCGCATGAAGACAGTCCTATGGACTTCCTGGAGGAGAAAGAGAGAGCAGTATGTGGCACCTTTGGGAGGCGGCTTCCAGGTTTACTCCCTGGCTCCGTGACCCCAGCCCACCCTAGAGCCTTGGCTTTGAATCCCATCTCCACCGCTTCGTAGCTGGATGCCTCTGGGTGAGTCCTGGAAGATCTGTGCTGTGGGAGGGTGCCTAGTGGACGATCCCTGGCTGCTGCTGAAATGTTTCCTGTGAGTTCCTGGAGGCCTTGATGCCCAGGAGCACTGTGGAAGCACTATGCATCCCTCACCCTTGTGAACACTTTGGAGCTATGAGCCAGGTCAGCCCAGAGTCCCAGGCTCACTCTGGCTGGAGGGAGAGGCCCACTTAGGGGAGTTGAAGGCTTCCCTAGCTTCCTATGACCAGAGAAGTTTGTAATCCTGGAGGCCTGTCTGTGCAAGGGCCTGGGGGTGACTCTGGGGGCGTCCAGGATAGATTGCCTGAGAGTGGGGGTCACCAGATGGTGAAGTGTTGTGACTGGCAAATACAGAAAGCCAGGAGTGTGTGTCCTTTGTCCGCCTCTCTTCCCTCAGGTCTCCTGTTCTTTGAGATTACACTGGTGACCATACTACATGGATGTGCGGGTGGTTAGATTCCTGGGTGGGAGGGTGGATGGATGGATGGACGGACGGGTAAGTGAAAGGATGGATGGATGGATAGATGGACAGTGGCAGCTGCATAGTCTGCCAGTGCCCCAGACACAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGACAGCAGGCTCACACAGTTGCCCTTGGCCGCCCGGCCCTGGATGAGTTCCACGGTGCCTCCCTCAGGCCCCAAGTCCAGGTGGCAGCTGTCTAACTGGAGCAGGAACTCGGAGACGGATGGGGACACTCTGACCTGCATGGGTAGGTAGGGCCACGCGGCATGGGCAGCTGCTCTTCACCCCACCCCACCTGCTGCCTTCAAATATCGGCTAGAATTAAGAGTTCCCACCCCTGAGTCCTCACAGTGGAAAGAAAGACATGGACCTGTCTGGGGCAGAGGAGGAGGACAGGGCCACATCCTTGTCAGTGTCCCTGAGCAATGCCTTCTCTGTCTCTCCCTCTCCCGTGCACCCAGGCTGTCTCCCTCCTGACTCTGGGAGTCTCATCTCCTCTGGAGTCATGGTGGGAAGAAAGGCGGAGAGGAAGTTCCAGGAGCTGGGAGGCCCGAGGGGTGACAGGCATGCCAGGTACCTGCACAAAGCTCTGCTGCCCCGGCTCGATGGTGTTGGAGGCCTGGAGGAAGTGTGGGCTGAGGTAGAGGCCCAGCTGGAAAGAGAGGCTGTCCATGTTGAGGCAGTGCACCTTTTTCTGGGGGAGGACGGGAGGGAGACTTGGTCAATCTGGCGGCGCCAGCCAGGAGGGCGAGGGGTGTGGGGAGGAACAGGCATCATGGCCCTGTGGAGTTGCCTGACTCTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGATACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCTTCACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACTGCGCCCGGCCCT | CCAACGCCCACTGTTCTTGCCACCCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGACCCACTGGGTTGAAGGTTCTGTGGGGTGGAGGGACCCCAAGGTGTTCCAAGCCAGTGGCTGCACTGGCAGCAGGCCTCTGAGAGGGAGGCGGGAAGGGTAGGCGCGGAGAGCAGGCTCCATTCTGGGTCGAGTGGAGGACTGGCTCCCAGGGTGAGTTCACACCAGTGCTCCCAGCTGGCGGCTGCTCAGTCTCTCCTGCTGGGCGAGCGCGGGGGGCCGGGGCTATGCCATGCTGCTGGTGGAGCAGGGGGTGCTCTGGGTGCTCCCGATGCTGTGGTTGGTGCTGCTGCTCTCCGAGGAGGCCGGGGCAGCCACCGCCACCACGGGCTCCCGCTTGCTGGGGGAACCTGGGAGCGGGAGCGGGGGCAGGGGCGGAGGTCAGGGTCCTGGCCAGGGCCCCTCAATCCCTCAGAGGCTTCACTGGGCTCCCCCGGGTGGATGGAGGGGCCCGGCATGCTCACTGTGGGGGCCTGGGGTACTCACGCGTGTGCGAGTAGATGTACCAGAGTGCAGCAGTGAGCAGGGCCCCGATGAGGAAGGCACCAAAGGTGATGCCCAGCACGGCGGGCAGGACGAGGCCTTTGCTTGTGCAACCTAGAGAGGGCCGACGCCATCAGCACTGCCACTCTGCCCCTGCCCCATCCCCTACCCTGTTGTGCTGGCCCATGTGGGCTTTGGTGCCAGCTCTGCTCAGCCATGGACCCTCGACTTCTCTGAACCTCAGTCTCCTCTTGCAGCAAACGGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAGCCCTGCCTTCTTGGTCCTGGGCTGGGAGTGGAGGCTCCATCCTGGCCTGGATGGGGTGGCAAAGAGGTAGGTGCCCCCATCCCTCACCCCTGCCTCTGCCACCAGTGTCGGGACTCTTCTGCCTGGTGTGGGCCTGGGCCTGGGGGGAACTGATGGAGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTTTCTCTGGGGTCCCCCTTGCCATGTGCTATGTGCCCAGGCCGTTTCTCAGGGCTGCCCGCTGTGCCCTACTGTGACCTCAGCCACTAGAACAAACCCGAGAGACCTGGAGGGAGCTCACCAGACAGGTCAGGGCTGATGATGTTCAAGCGCATGAAGACAGTCTATGGACTTCCTGGAGGAGAAAGAGAGAGCAGTATGTGGCACCTTTGGGAGGCGGCTTCCAGGTTTACTCCCTGGCTCCGTGACCCCAGCCCACCCTAGAGCCTTGGCTTTGAATCCCATCTCCACCGCTTCGTAGCTGGATGCCTCTGGGTGAGTCCTGGAAGATCTGTGCTGTGGGAGGGTGCCTAGTGGACGATCCCTGGCTGCTGCTGAAATGTTTCCTGTGAGTTCCTGGAGGCCTTGATGCCCAGGAGCACTGTGGAAGCACTATGCATCCCTCACCCTTGTGAACACTTTGGAGCTATGAGCCAGGTCAGCCCAGAGTCCCAGGCTCACTCTGGCTGGAGGGAGAGGCCCACTTAGGGGAGTTGAAGGCTTCCCTAGCTTCCTATGACCAGAGAAGTTTGTAATCCTGGAGGCCTGTCTGTGCAAGGGCCTGGGGGTGACTCTGGGGGCGTCCAGGATAGATTGCCTGAGAGTGGGGGTCACCAGATGGTGAAGTGTTGTGACTGGCAAATACAGAAAGCCAGGAGTGTGTGTCCTTTGTCCGCCTCTCTTCCCTCAGGTCTCCTGTTCTTTGAGATTACACTGGTGACCATACTACATGGATGTGCGGGTGGTTAGATTCCTGGGTGGGAGGGTGGATGGATGGATGGACGGACGGGTAAGTGAAAGGATGGATGGATGGATAGATGGACAGTGGCAGCTGCATAGTCTGCCAGTGCCCCAGACACAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGACAGCAGGCTCACACAGTTGCCCTTGGCCGCCCGGCCCTGGATGAGTTCCACGGTGCCTCCCTCAGGCCCCAAGTCCAGGTGGCAGCTGTCTAACTGGAGCAGGAACTCGGAGACGGATGGGGACACTCTGACCTGCATGGGTAGGTAGGGCCACGCGGCATGGGCAGCTGCTCTTCACCCCACCCCACCTGCTGCCTTCAAATATCGGCTAGAATTAAGAGTTCCCACCCCTGAGTCCTCACAGTGGAAAGAAAGACATGGACCTGTCTGGGGCAGAGGAGGAGGACAGGGCCACATCCTTGTCAGTGTCCCTGAGCAATGCCTTCTCTGTCTCTCCCTCTCCCGTGCACCCAGGCTGTCTCCCTCCTGACTCTGGGAGTCTCATCTCCTCTGGAGTCATGGTGGGAAGAAAGGCGGAGAGGAAGTTCCAGGAGCTGGGAGGCCCGAGGGGTGACAGGCATGCCAGGTACCTGCACAAAGCTCTGCTGCCCCGGCTCGATGGTGTTGGAGGCCTGGAGGAAGTGTGGGCTGAGGTAGAGGCCCAGCTGGAAAGAGAGGCTGTCCATGTTGAGGCAGTGCACCTTTTTCTGGGGGAGGACGGGAGGGAGACTTGGTCAATCTGGCGGCGCCAGCCAGGAGGGCGAGGGGTGTGGGGAGGAACAGGCATCATGGCCCTGTGGAGTTGCCTGACTCTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGATACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCTTCACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACTGCGCCCGGCCCTN | pathogenic | 150,451 |
Variant chromosome 9, position 127817202, gene ENG: benign or pathogenic? Disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'ENG-related_disorder', 'Hereditary_hemorrhagic_telangiectasia'] | TGTTCTTGCCACCCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGACCCACTGGGTTGAAGGTTCTGTGGGGTGGAGGGACCCCAAGGTGTTCCAAGCCAGTGGCTGCACTGGCAGCAGGCCTCTGAGAGGGAGGCGGGAAGGGTAGGCGCGGAGAGCAGGCTCCATTCTGGGTCGAGTGGAGGACTGGCTCCCAGGGTGAGTTCACACCAGTGCTCCCAGCTGGCGGCTGCTCAGTCTCTCCTGCTGGGCGAGCGCGGGGGGCCGGGGCTATGCCATGCTGCTGGTGGAGCAGGGGGTGCTCTGGGTGCTCCCGATGCTGTGGTTGGTGCTGCTGCTCTCCGAGGAGGCCGGGGCAGCCACCGCCACCACGGGCTCCCGCTTGCTGGGGGAACCTGGGAGCGGGAGCGGGGGCAGGGGCGGAGGTCAGGGTCCTGGCCAGGGCCCCTCAATCCCTCAGAGGCTTCACTGGGCTCCCCCGGGTGGATGGAGGGGCCCGGCATGCTCACTGTGGGGGCCTGGGGTACTCACGCGTGTGCGAGTAGATGTACCAGAGTGCAGCAGTGAGCAGGGCCCCGATGAGGAAGGCACCAAAGGTGATGCCCAGCACGGCGGGCAGGACGAGGCCTTTGCTTGTGCAACCTAGAGAGGGCCGACGCCATCAGCACTGCCACTCTGCCCCTGCCCCATCCCCTACCCTGTTGTGCTGGCCCATGTGGGCTTTGGTGCCAGCTCTGCTCAGCCATGGACCCTCGACTTCTCTGAACCTCAGTCTCCTCTTGCAGCAAACGGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAGCCCTGCCTTCTTGGTCCTGGGCTGGGAGTGGAGGCTCCATCCTGGCCTGGATGGGGTGGCAAAGAGGTAGGTGCCCCCATCCCTCACCCCTGCCTCTGCCACCAGTGTCGGGACTCTTCTGCCTGGTGTGGGCCTGGGCCTGGGGGGAACTGATGGAGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTTTCTCTGGGGTCCCCCTTGCCATGTGCTATGTGCCCAGGCCGTTTCTCAGGGCTGCCCGCTGTGCCCTACTGTGACCTCAGCCACTAGAACAAACCCGAGAGACCTGGAGGGAGCTCACCAGACAGGTCAGGGCTGATGATGTTCAAGCGCATGAAGACAGTCCTATGGACTTCCTGGAGGAGAAAGAGAGAGCAGTATGTGGCACCTTTGGGAGGCGGCTTCCAGGTTTACTCCCTGGCTCCGTGACCCCAGCCCACCCTAGAGCCTTGGCTTTGAATCCCATCTCCACCGCTTCGTAGCTGGATGCCTCTGGGTGAGTCCTGGAAGATCTGTGCTGTGGGAGGGTGCCTAGTGGACGATCCCTGGCTGCTGCTGAAATGTTTCCTGTGAGTTCCTGGAGGCCTTGATGCCCAGGAGCACTGTGGAAGCACTATGCATCCCTCACCCTTGTGAACACTTTGGAGCTATGAGCCAGGTCAGCCCAGAGTCCCAGGCTCACTCTGGCTGGAGGGAGAGGCCCACTTAGGGGAGTTGAAGGCTTCCCTAGCTTCCTATGACCAGAGAAGTTTGTAATCCTGGAGGCCTGTCTGTGCAAGGGCCTGGGGGTGACTCTGGGGGCGTCCAGGATAGATTGCCTGAGAGTGGGGGTCACCAGATGGTGAAGTGTTGTGACTGGCAAATACAGAAAGCCAGGAGTGTGTGTCCTTTGTCCGCCTCTCTTCCCTCAGGTCTCCTGTTCTTTGAGATTACACTGGTGACCATACTACATGGATGTGCGGGTGGTTAGATTCCTGGGTGGGAGGGTGGATGGATGGATGGACGGACGGGTAAGTGAAAGGATGGATGGATGGATAGATGGACAGTGGCAGCTGCATAGTCTGCCAGTGCCCCAGACACAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGACAGCAGGCTCACACAGTTGCCCTTGGCCGCCCGGCCCTGGATGAGTTCCACGGTGCCTCCCTCAGGCCCCAAGTCCAGGTGGCAGCTGTCTAACTGGAGCAGGAACTCGGAGACGGATGGGGACACTCTGACCTGCATGGGTAGGTAGGGCCACGCGGCATGGGCAGCTGCTCTTCACCCCACCCCACCTGCTGCCTTCAAATATCGGCTAGAATTAAGAGTTCCCACCCCTGAGTCCTCACAGTGGAAAGAAAGACATGGACCTGTCTGGGGCAGAGGAGGAGGACAGGGCCACATCCTTGTCAGTGTCCCTGAGCAATGCCTTCTCTGTCTCTCCCTCTCCCGTGCACCCAGGCTGTCTCCCTCCTGACTCTGGGAGTCTCATCTCCTCTGGAGTCATGGTGGGAAGAAAGGCGGAGAGGAAGTTCCAGGAGCTGGGAGGCCCGAGGGGTGACAGGCATGCCAGGTACCTGCACAAAGCTCTGCTGCCCCGGCTCGATGGTGTTGGAGGCCTGGAGGAAGTGTGGGCTGAGGTAGAGGCCCAGCTGGAAAGAGAGGCTGTCCATGTTGAGGCAGTGCACCTTTTTCTGGGGGAGGACGGGAGGGAGACTTGGTCAATCTGGCGGCGCCAGCCAGGAGGGCGAGGGGTGTGGGGAGGAACAGGCATCATGGCCCTGTGGAGTTGCCTGACTCTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGATACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCTTCACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACTGCGCCCGGCCCTTTTTTTTTTTT | TGTTCTTGCCACCCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGACCCACTGGGTTGAAGGTTCTGTGGGGTGGAGGGACCCCAAGGTGTTCCAAGCCAGTGGCTGCACTGGCAGCAGGCCTCTGAGAGGGAGGCGGGAAGGGTAGGCGCGGAGAGCAGGCTCCATTCTGGGTCGAGTGGAGGACTGGCTCCCAGGGTGAGTTCACACCAGTGCTCCCAGCTGGCGGCTGCTCAGTCTCTCCTGCTGGGCGAGCGCGGGGGGCCGGGGCTATGCCATGCTGCTGGTGGAGCAGGGGGTGCTCTGGGTGCTCCCGATGCTGTGGTTGGTGCTGCTGCTCTCCGAGGAGGCCGGGGCAGCCACCGCCACCACGGGCTCCCGCTTGCTGGGGGAACCTGGGAGCGGGAGCGGGGGCAGGGGCGGAGGTCAGGGTCCTGGCCAGGGCCCCTCAATCCCTCAGAGGCTTCACTGGGCTCCCCCGGGTGGATGGAGGGGCCCGGCATGCTCACTGTGGGGGCCTGGGGTACTCACGCGTGTGCGAGTAGATGTACCAGAGTGCAGCAGTGAGCAGGGCCCCGATGAGGAAGGCACCAAAGGTGATGCCCAGCACGGCGGGCAGGACGAGGCCTTTGCTTGTGCAACCTAGAGAGGGCCGACGCCATCAGCACTGCCACTCTGCCCCTGCCCCATCCCCTACCCTGTTGTGCTGGCCCATGTGGGCTTTGGTGCCAGCTCTGCTCAGCCATGGACCCTCGACTTCTCTGAACCTCAGTCTCCTCTTGCAGCAAACGGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAGCCCTGCCTTCTTGGTCCTGGGCTGGGAGTGGAGGCTCCATCCTGGCCTGGATGGGGTGGCAAAGAGGTAGGTGCCCCCATCCCTCACCCCTGCCTCTGCCACCAGTGTCGGGACTCTTCTGCCTGGTGTGGGCCTGGGCCTGGGGGGAACTGATGGAGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTTTCTCTGGGGTCCCCCTTGCCATGTGCTATGTGCCCAGGCCGTTTCTCAGGGCTGCCCGCTGTGCCCTACTGTGACCTCAGCCACTAGAACAAACCCGAGAGACCTGGAGGGAGCTCACCAGACAGGTCAGGGCTGATGATGTTCAAGCGCATGAAGACAGTCCTATGGACTTCTGGAGGAGAAAGAGAGAGCAGTATGTGGCACCTTTGGGAGGCGGCTTCCAGGTTTACTCCCTGGCTCCGTGACCCCAGCCCACCCTAGAGCCTTGGCTTTGAATCCCATCTCCACCGCTTCGTAGCTGGATGCCTCTGGGTGAGTCCTGGAAGATCTGTGCTGTGGGAGGGTGCCTAGTGGACGATCCCTGGCTGCTGCTGAAATGTTTCCTGTGAGTTCCTGGAGGCCTTGATGCCCAGGAGCACTGTGGAAGCACTATGCATCCCTCACCCTTGTGAACACTTTGGAGCTATGAGCCAGGTCAGCCCAGAGTCCCAGGCTCACTCTGGCTGGAGGGAGAGGCCCACTTAGGGGAGTTGAAGGCTTCCCTAGCTTCCTATGACCAGAGAAGTTTGTAATCCTGGAGGCCTGTCTGTGCAAGGGCCTGGGGGTGACTCTGGGGGCGTCCAGGATAGATTGCCTGAGAGTGGGGGTCACCAGATGGTGAAGTGTTGTGACTGGCAAATACAGAAAGCCAGGAGTGTGTGTCCTTTGTCCGCCTCTCTTCCCTCAGGTCTCCTGTTCTTTGAGATTACACTGGTGACCATACTACATGGATGTGCGGGTGGTTAGATTCCTGGGTGGGAGGGTGGATGGATGGATGGACGGACGGGTAAGTGAAAGGATGGATGGATGGATAGATGGACAGTGGCAGCTGCATAGTCTGCCAGTGCCCCAGACACAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGACAGCAGGCTCACACAGTTGCCCTTGGCCGCCCGGCCCTGGATGAGTTCCACGGTGCCTCCCTCAGGCCCCAAGTCCAGGTGGCAGCTGTCTAACTGGAGCAGGAACTCGGAGACGGATGGGGACACTCTGACCTGCATGGGTAGGTAGGGCCACGCGGCATGGGCAGCTGCTCTTCACCCCACCCCACCTGCTGCCTTCAAATATCGGCTAGAATTAAGAGTTCCCACCCCTGAGTCCTCACAGTGGAAAGAAAGACATGGACCTGTCTGGGGCAGAGGAGGAGGACAGGGCCACATCCTTGTCAGTGTCCCTGAGCAATGCCTTCTCTGTCTCTCCCTCTCCCGTGCACCCAGGCTGTCTCCCTCCTGACTCTGGGAGTCTCATCTCCTCTGGAGTCATGGTGGGAAGAAAGGCGGAGAGGAAGTTCCAGGAGCTGGGAGGCCCGAGGGGTGACAGGCATGCCAGGTACCTGCACAAAGCTCTGCTGCCCCGGCTCGATGGTGTTGGAGGCCTGGAGGAAGTGTGGGCTGAGGTAGAGGCCCAGCTGGAAAGAGAGGCTGTCCATGTTGAGGCAGTGCACCTTTTTCTGGGGGAGGACGGGAGGGAGACTTGGTCAATCTGGCGGCGCCAGCCAGGAGGGCGAGGGGTGTGGGGAGGAACAGGCATCATGGCCCTGTGGAGTTGCCTGACTCTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGATACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCTTCACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACTGCGCCCGGCCCTTTTTTTTTTTTN | pathogenic | 150,452 |
Gene mutation in ENG at chromosome 9, position 127817214—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | CCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGACCCACTGGGTTGAAGGTTCTGTGGGGTGGAGGGACCCCAAGGTGTTCCAAGCCAGTGGCTGCACTGGCAGCAGGCCTCTGAGAGGGAGGCGGGAAGGGTAGGCGCGGAGAGCAGGCTCCATTCTGGGTCGAGTGGAGGACTGGCTCCCAGGGTGAGTTCACACCAGTGCTCCCAGCTGGCGGCTGCTCAGTCTCTCCTGCTGGGCGAGCGCGGGGGGCCGGGGCTATGCCATGCTGCTGGTGGAGCAGGGGGTGCTCTGGGTGCTCCCGATGCTGTGGTTGGTGCTGCTGCTCTCCGAGGAGGCCGGGGCAGCCACCGCCACCACGGGCTCCCGCTTGCTGGGGGAACCTGGGAGCGGGAGCGGGGGCAGGGGCGGAGGTCAGGGTCCTGGCCAGGGCCCCTCAATCCCTCAGAGGCTTCACTGGGCTCCCCCGGGTGGATGGAGGGGCCCGGCATGCTCACTGTGGGGGCCTGGGGTACTCACGCGTGTGCGAGTAGATGTACCAGAGTGCAGCAGTGAGCAGGGCCCCGATGAGGAAGGCACCAAAGGTGATGCCCAGCACGGCGGGCAGGACGAGGCCTTTGCTTGTGCAACCTAGAGAGGGCCGACGCCATCAGCACTGCCACTCTGCCCCTGCCCCATCCCCTACCCTGTTGTGCTGGCCCATGTGGGCTTTGGTGCCAGCTCTGCTCAGCCATGGACCCTCGACTTCTCTGAACCTCAGTCTCCTCTTGCAGCAAACGGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAGCCCTGCCTTCTTGGTCCTGGGCTGGGAGTGGAGGCTCCATCCTGGCCTGGATGGGGTGGCAAAGAGGTAGGTGCCCCCATCCCTCACCCCTGCCTCTGCCACCAGTGTCGGGACTCTTCTGCCTGGTGTGGGCCTGGGCCTGGGGGGAACTGATGGAGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTTTCTCTGGGGTCCCCCTTGCCATGTGCTATGTGCCCAGGCCGTTTCTCAGGGCTGCCCGCTGTGCCCTACTGTGACCTCAGCCACTAGAACAAACCCGAGAGACCTGGAGGGAGCTCACCAGACAGGTCAGGGCTGATGATGTTCAAGCGCATGAAGACAGTCCTATGGACTTCCTGGAGGAGAAAGAGAGAGCAGTATGTGGCACCTTTGGGAGGCGGCTTCCAGGTTTACTCCCTGGCTCCGTGACCCCAGCCCACCCTAGAGCCTTGGCTTTGAATCCCATCTCCACCGCTTCGTAGCTGGATGCCTCTGGGTGAGTCCTGGAAGATCTGTGCTGTGGGAGGGTGCCTAGTGGACGATCCCTGGCTGCTGCTGAAATGTTTCCTGTGAGTTCCTGGAGGCCTTGATGCCCAGGAGCACTGTGGAAGCACTATGCATCCCTCACCCTTGTGAACACTTTGGAGCTATGAGCCAGGTCAGCCCAGAGTCCCAGGCTCACTCTGGCTGGAGGGAGAGGCCCACTTAGGGGAGTTGAAGGCTTCCCTAGCTTCCTATGACCAGAGAAGTTTGTAATCCTGGAGGCCTGTCTGTGCAAGGGCCTGGGGGTGACTCTGGGGGCGTCCAGGATAGATTGCCTGAGAGTGGGGGTCACCAGATGGTGAAGTGTTGTGACTGGCAAATACAGAAAGCCAGGAGTGTGTGTCCTTTGTCCGCCTCTCTTCCCTCAGGTCTCCTGTTCTTTGAGATTACACTGGTGACCATACTACATGGATGTGCGGGTGGTTAGATTCCTGGGTGGGAGGGTGGATGGATGGATGGACGGACGGGTAAGTGAAAGGATGGATGGATGGATAGATGGACAGTGGCAGCTGCATAGTCTGCCAGTGCCCCAGACACAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGACAGCAGGCTCACACAGTTGCCCTTGGCCGCCCGGCCCTGGATGAGTTCCACGGTGCCTCCCTCAGGCCCCAAGTCCAGGTGGCAGCTGTCTAACTGGAGCAGGAACTCGGAGACGGATGGGGACACTCTGACCTGCATGGGTAGGTAGGGCCACGCGGCATGGGCAGCTGCTCTTCACCCCACCCCACCTGCTGCCTTCAAATATCGGCTAGAATTAAGAGTTCCCACCCCTGAGTCCTCACAGTGGAAAGAAAGACATGGACCTGTCTGGGGCAGAGGAGGAGGACAGGGCCACATCCTTGTCAGTGTCCCTGAGCAATGCCTTCTCTGTCTCTCCCTCTCCCGTGCACCCAGGCTGTCTCCCTCCTGACTCTGGGAGTCTCATCTCCTCTGGAGTCATGGTGGGAAGAAAGGCGGAGAGGAAGTTCCAGGAGCTGGGAGGCCCGAGGGGTGACAGGCATGCCAGGTACCTGCACAAAGCTCTGCTGCCCCGGCTCGATGGTGTTGGAGGCCTGGAGGAAGTGTGGGCTGAGGTAGAGGCCCAGCTGGAAAGAGAGGCTGTCCATGTTGAGGCAGTGCACCTTTTTCTGGGGGAGGACGGGAGGGAGACTTGGTCAATCTGGCGGCGCCAGCCAGGAGGGCGAGGGGTGTGGGGAGGAACAGGCATCATGGCCCTGTGGAGTTGCCTGACTCTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGATACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCTTCACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACTGCGCCCGGCCCTTTTTTTTTTTTTTAAACTAATAT | CCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGACCCACTGGGTTGAAGGTTCTGTGGGGTGGAGGGACCCCAAGGTGTTCCAAGCCAGTGGCTGCACTGGCAGCAGGCCTCTGAGAGGGAGGCGGGAAGGGTAGGCGCGGAGAGCAGGCTCCATTCTGGGTCGAGTGGAGGACTGGCTCCCAGGGTGAGTTCACACCAGTGCTCCCAGCTGGCGGCTGCTCAGTCTCTCCTGCTGGGCGAGCGCGGGGGGCCGGGGCTATGCCATGCTGCTGGTGGAGCAGGGGGTGCTCTGGGTGCTCCCGATGCTGTGGTTGGTGCTGCTGCTCTCCGAGGAGGCCGGGGCAGCCACCGCCACCACGGGCTCCCGCTTGCTGGGGGAACCTGGGAGCGGGAGCGGGGGCAGGGGCGGAGGTCAGGGTCCTGGCCAGGGCCCCTCAATCCCTCAGAGGCTTCACTGGGCTCCCCCGGGTGGATGGAGGGGCCCGGCATGCTCACTGTGGGGGCCTGGGGTACTCACGCGTGTGCGAGTAGATGTACCAGAGTGCAGCAGTGAGCAGGGCCCCGATGAGGAAGGCACCAAAGGTGATGCCCAGCACGGCGGGCAGGACGAGGCCTTTGCTTGTGCAACCTAGAGAGGGCCGACGCCATCAGCACTGCCACTCTGCCCCTGCCCCATCCCCTACCCTGTTGTGCTGGCCCATGTGGGCTTTGGTGCCAGCTCTGCTCAGCCATGGACCCTCGACTTCTCTGAACCTCAGTCTCCTCTTGCAGCAAACGGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAGCCCTGCCTTCTTGGTCCTGGGCTGGGAGTGGAGGCTCCATCCTGGCCTGGATGGGGTGGCAAAGAGGTAGGTGCCCCCATCCCTCACCCCTGCCTCTGCCACCAGTGTCGGGACTCTTCTGCCTGGTGTGGGCCTGGGCCTGGGGGGAACTGATGGAGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTTTCTCTGGGGTCCCCCTTGCCATGTGCTATGTGCCCAGGCCGTTTCTCAGGGCTGCCCGCTGTGCCCTACTGTGACCTCAGCCACTAGAACAAACCCGAGAGACCTGGAGGGAGCTCACCAGACAGGTCAGGGCTGATGATGTTCAAGCGCATGAAGACAGTCCTATGGACTTCCTGGAGGAGAAAGAGCAGTATGTGGCACCTTTGGGAGGCGGCTTCCAGGTTTACTCCCTGGCTCCGTGACCCCAGCCCACCCTAGAGCCTTGGCTTTGAATCCCATCTCCACCGCTTCGTAGCTGGATGCCTCTGGGTGAGTCCTGGAAGATCTGTGCTGTGGGAGGGTGCCTAGTGGACGATCCCTGGCTGCTGCTGAAATGTTTCCTGTGAGTTCCTGGAGGCCTTGATGCCCAGGAGCACTGTGGAAGCACTATGCATCCCTCACCCTTGTGAACACTTTGGAGCTATGAGCCAGGTCAGCCCAGAGTCCCAGGCTCACTCTGGCTGGAGGGAGAGGCCCACTTAGGGGAGTTGAAGGCTTCCCTAGCTTCCTATGACCAGAGAAGTTTGTAATCCTGGAGGCCTGTCTGTGCAAGGGCCTGGGGGTGACTCTGGGGGCGTCCAGGATAGATTGCCTGAGAGTGGGGGTCACCAGATGGTGAAGTGTTGTGACTGGCAAATACAGAAAGCCAGGAGTGTGTGTCCTTTGTCCGCCTCTCTTCCCTCAGGTCTCCTGTTCTTTGAGATTACACTGGTGACCATACTACATGGATGTGCGGGTGGTTAGATTCCTGGGTGGGAGGGTGGATGGATGGATGGACGGACGGGTAAGTGAAAGGATGGATGGATGGATAGATGGACAGTGGCAGCTGCATAGTCTGCCAGTGCCCCAGACACAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGACAGCAGGCTCACACAGTTGCCCTTGGCCGCCCGGCCCTGGATGAGTTCCACGGTGCCTCCCTCAGGCCCCAAGTCCAGGTGGCAGCTGTCTAACTGGAGCAGGAACTCGGAGACGGATGGGGACACTCTGACCTGCATGGGTAGGTAGGGCCACGCGGCATGGGCAGCTGCTCTTCACCCCACCCCACCTGCTGCCTTCAAATATCGGCTAGAATTAAGAGTTCCCACCCCTGAGTCCTCACAGTGGAAAGAAAGACATGGACCTGTCTGGGGCAGAGGAGGAGGACAGGGCCACATCCTTGTCAGTGTCCCTGAGCAATGCCTTCTCTGTCTCTCCCTCTCCCGTGCACCCAGGCTGTCTCCCTCCTGACTCTGGGAGTCTCATCTCCTCTGGAGTCATGGTGGGAAGAAAGGCGGAGAGGAAGTTCCAGGAGCTGGGAGGCCCGAGGGGTGACAGGCATGCCAGGTACCTGCACAAAGCTCTGCTGCCCCGGCTCGATGGTGTTGGAGGCCTGGAGGAAGTGTGGGCTGAGGTAGAGGCCCAGCTGGAAAGAGAGGCTGTCCATGTTGAGGCAGTGCACCTTTTTCTGGGGGAGGACGGGAGGGAGACTTGGTCAATCTGGCGGCGCCAGCCAGGAGGGCGAGGGGTGTGGGGAGGAACAGGCATCATGGCCCTGTGGAGTTGCCTGACTCTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGATACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCTTCACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACTGCGCCCGGCCCTTTTTTTTTTTTTTAAACTAATATNNNN | benign | 150,457 |
Subsets and Splits
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