question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2 values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
A genetic variant at chromosome 4, position 5694335, affecting gene EVC2 (EvC ciliary complex subunit 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | CAAGGTGCTGGGATTATAAACGTGAGCCACCACACTGGGCCTAATAACCATAAAATGTCTGTCATTGGCTGAGGGCCAGGCATGGCAGCCATCACTTTACATACATGAGTTCTATTACTCCCATTTTATAGATGAGGAAACTAAGACTCAGAAAGGTTAATACTCTTGCCAAAGATTACTCAGGCAGGAAGCTCGAGACTCTCCCCAGGCCTGTGTGACTCCAAATCCTGTGATCTTTCCACAACATGCATTCCCTCTCCACAGTGTAACCCTCTCATTGTGTAGAAAATTAACAAAAATGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTAACAAAAATGCCATTTTCCAAAGAACACGCGGACAATATGCAACAGCATCAGCCTGACCCAGGCCTCTGATTCAGTTGAGCTTCCATCCACTACACCCCCGCTAATGCCTTTTTAACGTGCTGGGACCCTAAGAGAATTTGCCAAAGCCCTCAAGCAGGGACCTGGCTTTCTCTTCTGACCTTCATATAGCATCTTGCAAACAATAACTGATAAATACAGCTTGTGGAGCAAATAAATGCAGAAGGGACGACTGAGTATGGAGGGTGCTGCCCTGTGAGGTGACGAGTTACCTGTAACTGGAGAGGACTGGAAAGAACAATGAGTACTGTAGTGGGTTCAGAGATGAACCCCAAAGGATATGTCTGTGTTCTGATCCCCAGAACCTGTGTATGTGTCCTTATTTGGAAAAGAGGTCTCTGAAGATGTAATTAAACTAAGGATCTCAAGAGATCATCCTGGACTATCCAGGTGGGCCTGACATCCAATGACAAGTGTCCTTATAAGTGGCACATAGAGAAGACACAGACACAGAGGAGGCCAAGAGCAGATGGAGGGAGAGAGTCAAGTGATCCAGCCACAGCCAAGGATGGCCTGGAGCCACCAGAAGCTGGAAGAGGGAGGAGGATGCTCCCCTAGAGCCTGCAGAGGGAGCGTGGCCCCACCAGCACCGGGCTTCCAGACTTCTAACCTCCCCAGCAGTGAGAAAATACATTCCTGTTGTTTTCAGCCATGCTGTTTGTGGTCATTTGTGACAGCAGCCCCAGGAAATTAACATCACTACTTAGCAGGGAGCCCAAAAAAGGGCTCTTGGCCATCGTAGCTCATTGGCCAAGCTCAACAGTTCTCGTACTACGTTAAGTCACTGAACCCACGTTACATAAAATCAGAATAGAAAACAACAGCAAGAGCACGGAGCTCTGCCACTTCTACCTGTGGGACATGGAACTAGTTTCTTAATCTCTCTAATCCTCAATTTCCCGTCTGTAAAATGAGAATAAAAATATTACTGTTTAAGAAACTCATAATGAGGCTCAAGTGAGATTATACATAGAAAGTGCTAAACCCAGTGCCCGACCCATAGTAAATGCTTGTGAAATGTTCACTGCTATTATGGGCACAGTCATCTTTAATAGCTGGCAGTCACTCGGTCTGGTTAAAGCACAATCCAATCCCTGCTTCAGAAACACCAGATGAGGCAGCCTAATGCTGAGTCAAACCTCCTCTCCATCTAAATACTGTATGTTGTGTAGCAGAAATAGCACCTTGGAAAAATAAATGGATTTGCTACCCAGTGATAACTATATTTAGTGAAAGAGGAGGAATAGGGTTTTTTTAAGCAACAAAAACCCGTGCCATTTTATATACAGGCCATAATTGGTTTATTTCCAACTTCTGGTATTTGTGTTAAAGCATTGAACTTAATACTTACCAGGCGGTGTGTTATAGGAGACTCTCTTTTAAATAAGTTCTTCTTAGGCCAGGAGGGTATAAAAGCAAATAAGGAATGAGCCCATGGCCCACTAGAGGCTGCAGAAGTTGAGAGTGGGATGAAGACTTCCATTTTCTTGTCCAATTTCATTCCAAGTGGTGCTTCCACTGCAAAACAACAACACACCCGTTTTATATAATGCGGAAAGACAGTAAGACATAGAACTTAACCTCTAGAGACAGACTACAGGGTACATGGAAGGTACTTAGAAGACGTTTGTTGGGTAAGTAAGTTAATGAAGGAATGAATGATATCATCTCTTTGCCAGGAAAATGAGACATGCTCACTGGGATGCTACAGAACTTAAGAAGAGCATTTTTCAAAGCCTCGTCTCCTTACCTGGGTTGTGCAGCCCCACCTAGGAATCAGAACTGCTGGGCAAGAATGATGCCTGGGTTGATTCTTACACACATGACATTAGACAGCCCTGGGCTTGAGTCCTGGCTCTGCCCCTCCAGCTGTGAGTCCTTGGGCATAACCTCTAACCTCTCTATACCTCGGTTTGCTTAATTCTAAGGCAAACAGCATAGGTCTCACCTCACTAGGTCCTTCTGGGCACCCGCCTACTGCAGAGTAAGCCCTCAGTGAACACCACCAACCACCATCCTAAAGAGGATGTGTGCACGGCCAGACACAAACGCCTGCTGAGCCCTCCAATAGGAAATGACTCCTGGGCCAGGCACCGCAGCTGACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAAGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAAATTAGCCTGGTGAGGTGGTGTGCGCCTGTAGTCCCAGCTATTCGGGAGGGTGAGGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAGAAAAAAAAAAGAAGAAAGAAATGACTCCCTTAGATTTTTCTCTGTGTCAATACATTTGGAAAGTTCATGAGCATTGTGTGCAAAGCACAGGAATGTCACTTAAAAGGTCCGGGCTGGGCTGTCAGGGTCCCTCTTCAGTGGATGCGGCCCAGGTGCTGATCAACTGTGGGACCTTGCACAGGTCAGCTGAGTTCTCTGGGCCTCAGTTCCCCTCACCTGGGTGTGTGGTTAAGATACCAATCAGACAGGGCTGTTGTCTGAGCAGCCAATCAAATGCCACACTGCACATGAAAGTGCTTAGATGTATCCAATGCTTCAAGTCAGCAATTTTAGTTTTGAAATGACCTGGATGGTGGCATTGTGCCTTCTTCAACATTTGTCTTTTATTCAAATACAAACTAATTTGACTGAAAATAAGGTGTACTTTTCAGTCTTTCTTACCCAGCATATTGATGGTAAAGACTACAAGTGCTTTTGAAACTTTCTATAGAATTTCAAAATATATGCAGGAAAAAAACTAAAATCTGATTAAAAAAAGATGTGGAGCTGGGTCCTGGATTAAATTACAGTATTTTTTTCCTTCCTTGGGTTGTATTTGGGGGTGATTCAGTTCCTCAGGTTGGGATGGGATAAGGGCTCCAATTGCATCAAGCATCGGGGAACTGATGGCCCTCGCCATGGAAACAAGTGGGTGCTCCACCAGGTGAGCGGCTGATTCAGAGCATCGGGAATGTCTGAGTAGAGCATATGGGTGCAAGTGAGACCGGACATCCATCTCCGGACCCCAGCACAGCACCCTGGGCCAGGGCACAAATGCTTGTGCAGCAAGCAACCAGGACATAAAGTCTTAAGGCCACACCTTACCCTTAAGCGCTCCATCTCTGGTCCACCCGTTTATGCCTCTCTGGCTCTCCTGGTCCTCAGCTTTAATGAAGACTCCAAAGTGATCCCTCCCTTCAGAGAGGACCCCTCCTCTATTCAGCAAGAATCCCGCTCAGTCTACAGAGCCAAGTGGGGCCCAC | CAAGGTGCTGGGATTATAAACGTGAGCCACCACACTGGGCCTAATAACCATAAAATGTCTGTCATTGGCTGAGGGCCAGGCATGGCAGCCATCACTTTACATACATGAGTTCTATTACTCCCATTTTATAGATGAGGAAACTAAGACTCAGAAAGGTTAATACTCTTGCCAAAGATTACTCAGGCAGGAAGCTCGAGACTCTCCCCAGGCCTGTGTGACTCCAAATCCTGTGATCTTTCCACAACATGCATTCCCTCTCCACAGTGTAACCCTCTCATTGTGTAGAAAATTAACAAAAATGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTAACAAAAATGCCATTTTCCAAAGAACACGCGGACAATATGCAACAGCATCAGCCTGACCCAGGCCTCTGATTCAGTTGAGCTTCCATCCACTACACCCCCGCTAATGCCTTTTTAACGTGCTGGGACCCTAAGAGAATTTGCCAAAGCCCTCAAGCAGGGACCTGGCTTTCTCTTCTGACCTTCATATAGCATCTTGCAAACAATAACTGATAAATACAGCTTGTGGAGCAAATAAATGCAGAAGGGACGACTGAGTATGGAGGGTGCTGCCCTGTGAGGTGACGAGTTACCTGTAACTGGAGAGGACTGGAAAGAACAATGAGTACTGTAGTGGGTTCAGAGATGAACCCCAAAGGATATGTCTGTGTTCTGATCCCCAGAACCTGTGTATGTGTCCTTATTTGGAAAAGAGGTCTCTGAAGATGTAATTAAACTAAGGATCTCAAGAGATCATCCTGGACTATCCAGGTGGGCCTGACATCCAATGACAAGTGTCCTTATAAGTGGCACATAGAGAAGACACAGACACAGAGGAGGCCAAGAGCAGATGGAGGGAGAGAGTCAAGTGATCCAGCCACAGCCAAGGATGGCCTGGAGCCACCAGAAGCTGGAAGAGGGAGGAGGATGCTCCCCTAGAGCCTGCAGAGGGAGCGTGGCCCCACCAGCACCGGGCTTCCAGACTTCTAACCTCCCCAGCAGTGAGAAAATACATTCCTGTTGTTTTCAGCCATGCTGTTTGTGGTCATTTGTGACAGCAGCCCCAGGAAATTAACATCACTACTTAGCAGGGAGCCCAAAAAAGGGCTCTTGGCCATCGTAGCTCATTGGCCAAGCTCAACAGTTCTCGTACTACGTTAAGTCACTGAACCCACGTTACATAAAATCAGAATAGAAAACAACAGCAAGAGCACGGAGCTCTGCCACTTCTACCTGTGGGACATGGAACTAGTTTCTTAATCTCTCTAATCCTCAATTTCCCGTCTGTAAAATGAGAATAAAAATATTACTGTTTAAGAAACTCATAATGAGGCTCAAGTGAGATTATACATAGAAAGTGCTAAACCCAGTGCCCGACCCATAGTAAATGCTTGTGAAATGTTCACTGCTATTATGGGCACAGTCATCTTTAATAGCTGGCAGTCACTCGGTCTGGTTAAAGCACAATCCAATCCCTGCTTCAGAAACACCAGATGAGGCAGCCTAATGCTGAGTCAAACCTCCTCTCCATCTAAATACTGTATGTTGTGTAGCAGAAATAGCACCTTGGAAAAATAAATGGATTTGCTACCCAGTGATAACTATATTTAGTGAAAGAGGAGGAATAGGGTTTTTTTAAGCAACAAAAACCCGTGCCATTTTATATACAGGCCATAATTGGTTTATTTCCAACTTCTGGTATTTGTGTTAAAGCATTGAACTTAATACTTACCGGCGGTGTGTTATAGGAGACTCTCTTTTAAATAAGTTCTTCTTAGGCCAGGAGGGTATAAAAGCAAATAAGGAATGAGCCCATGGCCCACTAGAGGCTGCAGAAGTTGAGAGTGGGATGAAGACTTCCATTTTCTTGTCCAATTTCATTCCAAGTGGTGCTTCCACTGCAAAACAACAACACACCCGTTTTATATAATGCGGAAAGACAGTAAGACATAGAACTTAACCTCTAGAGACAGACTACAGGGTACATGGAAGGTACTTAGAAGACGTTTGTTGGGTAAGTAAGTTAATGAAGGAATGAATGATATCATCTCTTTGCCAGGAAAATGAGACATGCTCACTGGGATGCTACAGAACTTAAGAAGAGCATTTTTCAAAGCCTCGTCTCCTTACCTGGGTTGTGCAGCCCCACCTAGGAATCAGAACTGCTGGGCAAGAATGATGCCTGGGTTGATTCTTACACACATGACATTAGACAGCCCTGGGCTTGAGTCCTGGCTCTGCCCCTCCAGCTGTGAGTCCTTGGGCATAACCTCTAACCTCTCTATACCTCGGTTTGCTTAATTCTAAGGCAAACAGCATAGGTCTCACCTCACTAGGTCCTTCTGGGCACCCGCCTACTGCAGAGTAAGCCCTCAGTGAACACCACCAACCACCATCCTAAAGAGGATGTGTGCACGGCCAGACACAAACGCCTGCTGAGCCCTCCAATAGGAAATGACTCCTGGGCCAGGCACCGCAGCTGACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAAGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAAATTAGCCTGGTGAGGTGGTGTGCGCCTGTAGTCCCAGCTATTCGGGAGGGTGAGGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAGAAAAAAAAAAGAAGAAAGAAATGACTCCCTTAGATTTTTCTCTGTGTCAATACATTTGGAAAGTTCATGAGCATTGTGTGCAAAGCACAGGAATGTCACTTAAAAGGTCCGGGCTGGGCTGTCAGGGTCCCTCTTCAGTGGATGCGGCCCAGGTGCTGATCAACTGTGGGACCTTGCACAGGTCAGCTGAGTTCTCTGGGCCTCAGTTCCCCTCACCTGGGTGTGTGGTTAAGATACCAATCAGACAGGGCTGTTGTCTGAGCAGCCAATCAAATGCCACACTGCACATGAAAGTGCTTAGATGTATCCAATGCTTCAAGTCAGCAATTTTAGTTTTGAAATGACCTGGATGGTGGCATTGTGCCTTCTTCAACATTTGTCTTTTATTCAAATACAAACTAATTTGACTGAAAATAAGGTGTACTTTTCAGTCTTTCTTACCCAGCATATTGATGGTAAAGACTACAAGTGCTTTTGAAACTTTCTATAGAATTTCAAAATATATGCAGGAAAAAAACTAAAATCTGATTAAAAAAAGATGTGGAGCTGGGTCCTGGATTAAATTACAGTATTTTTTTCCTTCCTTGGGTTGTATTTGGGGGTGATTCAGTTCCTCAGGTTGGGATGGGATAAGGGCTCCAATTGCATCAAGCATCGGGGAACTGATGGCCCTCGCCATGGAAACAAGTGGGTGCTCCACCAGGTGAGCGGCTGATTCAGAGCATCGGGAATGTCTGAGTAGAGCATATGGGTGCAAGTGAGACCGGACATCCATCTCCGGACCCCAGCACAGCACCCTGGGCCAGGGCACAAATGCTTGTGCAGCAAGCAACCAGGACATAAAGTCTTAAGGCCACACCTTACCCTTAAGCGCTCCATCTCTGGTCCACCCGTTTATGCCTCTCTGGCTCTCCTGGTCCTCAGCTTTAATGAAGACTCCAAAGTGATCCCTCCCTTCAGAGAGGACCCCTCCTCTATTCAGCAAGAATCCCGCTCAGTCTACAGAGCCAAGTGGGGCCCACN | pathogenic | 79,686 |
The genetic variant at chromosome 4, position 5697602, affecting gene EVC2 (EvC ciliary complex subunit 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | CTCTGGGCCTCAGTTCCCCTCACCTGGGTGTGTGGTTAAGATACCAATCAGACAGGGCTGTTGTCTGAGCAGCCAATCAAATGCCACACTGCACATGAAAGTGCTTAGATGTATCCAATGCTTCAAGTCAGCAATTTTAGTTTTGAAATGACCTGGATGGTGGCATTGTGCCTTCTTCAACATTTGTCTTTTATTCAAATACAAACTAATTTGACTGAAAATAAGGTGTACTTTTCAGTCTTTCTTACCCAGCATATTGATGGTAAAGACTACAAGTGCTTTTGAAACTTTCTATAGAATTTCAAAATATATGCAGGAAAAAAACTAAAATCTGATTAAAAAAAGATGTGGAGCTGGGTCCTGGATTAAATTACAGTATTTTTTTCCTTCCTTGGGTTGTATTTGGGGGTGATTCAGTTCCTCAGGTTGGGATGGGATAAGGGCTCCAATTGCATCAAGCATCGGGGAACTGATGGCCCTCGCCATGGAAACAAGTGGGTGCTCCACCAGGTGAGCGGCTGATTCAGAGCATCGGGAATGTCTGAGTAGAGCATATGGGTGCAAGTGAGACCGGACATCCATCTCCGGACCCCAGCACAGCACCCTGGGCCAGGGCACAAATGCTTGTGCAGCAAGCAACCAGGACATAAAGTCTTAAGGCCACACCTTACCCTTAAGCGCTCCATCTCTGGTCCACCCGTTTATGCCTCTCTGGCTCTCCTGGTCCTCAGCTTTAATGAAGACTCCAAAGTGATCCCTCCCTTCAGAGAGGACCCCTCCTCTATTCAGCAAGAATCCCGCTCAGTCTACAGAGCCAAGTGGGGCCCACCCGAATCCCAGCCCATCCCATTCCCCAGGACACCAGAGTTAGGCACAGAACCCAGACAACCCCACCCAGTGGCCCCAGGGATAGGTTCAGGGACAGGCCGGGGACCCACGCTGAGCCCAGGGGCCTGCACTGGAACTGTCACAGCCGCTGGGAAGTCTGCGCTGCAGGTGCCAGCCATGAGGCTCAGGAGCCAGGGACTGCCCGCGGCATTTTTCCCACCATGGGGAAAGGATGTAACTGCCTGTGAAAGATGCTCACCAGAGGAAAGCAGGGCGGCTGAGAGGGAAGGAGAAAGGCAGAGCCGTAGGAGCATTGAGAACCTTGTGCTCCTGGGTCCAGCAGTGCCAGGGCCTGTGCGTTTCAGTTACAGATGCCAATGAATTCCTCTTGATGAAATGAGTGTCAGTTGAATTTCGACCACTGAGTGTGGCAAGCTGAATAAAGGTCCGCAAAGACAGCCAGGTCCTAACCCCATGAAGCTGTGAATGTTATCTTAGGGTCTCAGATACTTTGCAAATGTGATTCCATTAAGGGCTTCGAGATGGGGAGATTGCCTGGATTATCCTGGTGGGCCCTAAATGTCATCACAGATGTCCTTATAAGAGGGAGACAGAGATTTGACAGACAGAAGAGAAGAAGGCCAAGTAACTACTGAGGCACGATGCCATGCTGCTAGCTTCCAAAATGGAGGAGGGCAGTATCCCCAATCCATCCCTAAGGAACGCAGGCAATGCGGCCATAGATGCTGGAAAAGGAGAGGAATTGGTTTCGCTTCTGGAACCTCCAGAGGGAGCAGACAGACACCTTGACTTTGCCCAGTGAAACTGATGTTGGACTTCTGCTTTCCAGTACTGTAAGAGAATAAACGTGTGTGGTCGAAGCCACTGTTTGTGAACATTTGTTAGGGAAGCCACAGGAAACTGATATACCCATTTAATTCACACGTTCTGTTTCATTCACCAAATGCCTTCAGGGGATATCAAAAAGGGCCTACCTCACCCTAGGTTCCACTGTGCACTAACGCTTCGGCCAGCTTTGAGGTGGAGGTACACTGCCCTAGTTCTGTAAGGTCAGGGAATGATCTACTTGCCCAAAGTAGAGAGGTGCTGGAAGGATCAGCAGAGAGTGAGGGAGCTGGAGGAAGGAGGGCTTCAGGCTTCTGGTTTTTCATGCTCAAAACAGGGGAACATCAACCAGAAGAAAAACTCACCTGCAGTCTTAAAGTGACAGCATTCCACTTTGGGCCAAATCATACAGGGCAAGTCCTAAAAAATTCAAGACACAAAGTCATTAATGGAACACATACTTCTGAGAAGTGATAATAAATAATCTTTGTAAATGACTCACATGGAGAGGACATGCACTTTTTTTTTTTTTTTCTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTGCAGTGGCGCGATCTCGACTTACTACAAGCTCCACCTCCTAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTTGTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGTCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGCGCTGGGATTACACGTGTGAGCCACCGCGTCCGGCCAAGGACCTGCACTTTCATCCAGAAGTGTGAAGTAAACTTTTCTAAGTCGGCCATTCCCGGCAGCTTCTGAGTAAAGAATTCCCTTCTCTTTCCCAGGGAGAGAATCAGCGCCCTCATGAATGCATTTCTGGGAGCTGTCAAGGGAGGCCGCACCATGTGATTGAAATGTCTTATCATCAGACAGACCTGGGTTCAAACGTTAGCCCTGCCCTCCATCAACTCTGTGGACCCTGGGTAAGCCAACAGCCTGCGAATTCCCAAGATCCTGCAAGTTTCCAGGGTGGTAGATAAGACACTAGATGAGGAGTGGAGAGAACTGGACTCTAGCTGGAACCATTTATTCACTGTGTGTCCTTGGCTAAGTCTCTCAGCCTCTCTGAGCCTCAGATCCCTCTTCTGAAAAGTGACCTCAAAGCCTCCTCCGAGTCTGCTCAGCCTCATTGGTGATGAAAATTTGTCTAAACTGAGCCTGGCCAAACCCTTCCAATTTACCTTTATGAATCACTGGGCTCTAGAAAGACTCAGACCTCTCTACTGAATAACAGTAAAAGCTCTCCCAGATGGAACCTTCTCCATGTGCCAGTGCTTACGCTATGTGCACTGAGTGAACTGTACAAGTAGTCCCTATAGAAATGCATGAAGCATTATACTCATTGTACAGCACTACCCCCAGTCTACAGTAATGAGATAACTCACTCCAGAGCCTGGCACGCAAGCAGCCTGGCCTAGCACATGTGCTCACCCTGCACGCAACGGCTGGTTTCTGTGTAATGGAAGAAGAAAGGATGTGTATGTGAGTTGAGCGGGATGCTCAGGCCTGGCTTTGGGTCCAGTTCCAATGACTAGTCCATGTGGCTACTGTTCACATGGCTCTCACGCGGGCCAGACACCACGGAAACCATAAGGTGGGACAGGATCGATGGGACAACTGTTGTGGCCACTGTCTGTGTGTTTCAGCCCCAGTCCTTACAGGCCTCCAGGACCCTGGCTGGGGCAGTTCTGCTGGGGTGATGTAACCCCAGCTGGGCTGGAGGCTGATTTTCCCCCAAAGGTGTGGAGGAGGCCCACCCACGGAGATGGAGACTCCTGGAGGGACACGGAGGAAATGATGGAAATTGCAGAGACAGTGGCAGAGACAGGCAAGAGGTGTGGGAAGAGGGAAAATGGGTGCAGCTCGATCCAGACAGGCTTCTACCAAACCCACCCCAGCATTCCCCATTGATGGAGCCAAACATCTGGCTTCAGTTTGTTCACACGGAGCTTATGTTATGTTATGGGCAGCGTAAAGAATTCTATTTAAAATAGTAAATTATGGTACAAACATTCTATGGAGTACCAGGCAGCTATTAAAAAGAGTAAAGCAGCATGATTCAGAATTCCACTTCTGGGCATATATGCAGAATAACTGAAAGCCAGGTCTTGAAGAGGTATTTGCACATCTGTGTTCACAGCAGCATTATTCACAATAGCCAAAAGTGGAAGCAAGCCAAATGTCCATCAATGGATGAATGGATAAGCTAAATGCGGTCCATCCATAAAATGGAATATTATGCAGCCTTGGAAAGGACAACATAGGGAGACTCCATCTCTACAAAAAAA | CTCTGGGCCTCAGTTCCCCTCACCTGGGTGTGTGGTTAAGATACCAATCAGACAGGGCTGTTGTCTGAGCAGCCAATCAAATGCCACACTGCACATGAAAGTGCTTAGATGTATCCAATGCTTCAAGTCAGCAATTTTAGTTTTGAAATGACCTGGATGGTGGCATTGTGCCTTCTTCAACATTTGTCTTTTATTCAAATACAAACTAATTTGACTGAAAATAAGGTGTACTTTTCAGTCTTTCTTACCCAGCATATTGATGGTAAAGACTACAAGTGCTTTTGAAACTTTCTATAGAATTTCAAAATATATGCAGGAAAAAAACTAAAATCTGATTAAAAAAAGATGTGGAGCTGGGTCCTGGATTAAATTACAGTATTTTTTTCCTTCCTTGGGTTGTATTTGGGGGTGATTCAGTTCCTCAGGTTGGGATGGGATAAGGGCTCCAATTGCATCAAGCATCGGGGAACTGATGGCCCTCGCCATGGAAACAAGTGGGTGCTCCACCAGGTGAGCGGCTGATTCAGAGCATCGGGAATGTCTGAGTAGAGCATATGGGTGCAAGTGAGACCGGACATCCATCTCCGGACCCCAGCACAGCACCCTGGGCCAGGGCACAAATGCTTGTGCAGCAAGCAACCAGGACATAAAGTCTTAAGGCCACACCTTACCCTTAAGCGCTCCATCTCTGGTCCACCCGTTTATGCCTCTCTGGCTCTCCTGGTCCTCAGCTTTAATGAAGACTCCAAAGTGATCCCTCCCTTCAGAGAGGACCCCTCCTCTATTCAGCAAGAATCCCGCTCAGTCTACAGAGCCAAGTGGGGCCCACCCGAATCCCAGCCCATCCCATTCCCCAGGACACCAGAGTTAGGCACAGAACCCAGACAACCCCACCCAGTGGCCCCAGGGATAGGTTCAGGGACAGGCCGGGGACCCACGCTGAGCCCAGGGGCCTGCACTGGAACTGTCACAGCCGCTGGGAAGTCTGCGCTGCAGGTGCCAGCCATGAGGCTCAGGAGCCAGGGACTGCCCGCGGCATTTTTCCCACCATGGGGAAAGGATGTAACTGCCTGTGAAAGATGCTCACCAGAGGAAAGCAGGGCGGCTGAGAGGGAAGGAGAAAGGCAGAGCCGTAGGAGCATTGAGAACCTTGTGCTCCTGGGTCCAGCAGTGCCAGGGCCTGTGCGTTTCAGTTACAGATGCCAATGAATTCCTCTTGATGAAATGAGTGTCAGTTGAATTTCGACCACTGAGTGTGGCAAGCTGAATAAAGGTCCGCAAAGACAGCCAGGTCCTAACCCCATGAAGCTGTGAATGTTATCTTAGGGTCTCAGATACTTTGCAAATGTGATTCCATTAAGGGCTTCGAGATGGGGAGATTGCCTGGATTATCCTGGTGGGCCCTAAATGTCATCACAGATGTCCTTATAAGAGGGAGACAGAGATTTGACAGACAGAAGAGAAGAAGGCCAAGTAACTACTGAGGCACGATGCCATGCTGCTAGCTTCCAAAATGGAGGAGGGCAGTATCCCCAATCCATCCCTAAGGAACGCAGGCAATGCGGCCATAGATGCTGGAAAAGGAGAGGAATTGGTTTCGCTTCTGGAACCTCCAGAGGGAGCAGACAGACACCTTGACTTTGCCCAGTGAAACTGATGTTGGACTTCTGCTTTCCAGTACTGTAAGAGAATAAACGTGTGTGGTCGAAGCCACTGTTTGTGAACATTTGTTAGGGAAGCCACAGGAAACTGATATACCCATTTAATTCACACGTTCTGTTTCATTCACCAAATGCCTTCAGGGGATATCAAAAAGGGCCTACCTCACCCTAGGTTCCACTGTGCACTAACGCTTCGGCCAGCTTTGAGGTGGAGGTACACTGCCCTAGTTCTGTAAGGTCAGGGAATGATCTACTTGCCCAAAGTAGAGAGGTGCTGGAAGGATCAGCAGAGAGTGAGGGAGCTGGAGGAAGGAGGGCTTCAGGCTTCTGGTTTTTCATGCTCAAAACAGGGGAACATCAACCAGAAGAAAAACTCACCTGCAGTCTTAAAAGTGACAGCATTCCACTTTGGGCCAAATCATACAGGGCAAGTCCTAAAAAATTCAAGACACAAAGTCATTAATGGAACACATACTTCTGAGAAGTGATAATAAATAATCTTTGTAAATGACTCACATGGAGAGGACATGCACTTTTTTTTTTTTTTTCTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTGCAGTGGCGCGATCTCGACTTACTACAAGCTCCACCTCCTAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTTGTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGTCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGCGCTGGGATTACACGTGTGAGCCACCGCGTCCGGCCAAGGACCTGCACTTTCATCCAGAAGTGTGAAGTAAACTTTTCTAAGTCGGCCATTCCCGGCAGCTTCTGAGTAAAGAATTCCCTTCTCTTTCCCAGGGAGAGAATCAGCGCCCTCATGAATGCATTTCTGGGAGCTGTCAAGGGAGGCCGCACCATGTGATTGAAATGTCTTATCATCAGACAGACCTGGGTTCAAACGTTAGCCCTGCCCTCCATCAACTCTGTGGACCCTGGGTAAGCCAACAGCCTGCGAATTCCCAAGATCCTGCAAGTTTCCAGGGTGGTAGATAAGACACTAGATGAGGAGTGGAGAGAACTGGACTCTAGCTGGAACCATTTATTCACTGTGTGTCCTTGGCTAAGTCTCTCAGCCTCTCTGAGCCTCAGATCCCTCTTCTGAAAAGTGACCTCAAAGCCTCCTCCGAGTCTGCTCAGCCTCATTGGTGATGAAAATTTGTCTAAACTGAGCCTGGCCAAACCCTTCCAATTTACCTTTATGAATCACTGGGCTCTAGAAAGACTCAGACCTCTCTACTGAATAACAGTAAAAGCTCTCCCAGATGGAACCTTCTCCATGTGCCAGTGCTTACGCTATGTGCACTGAGTGAACTGTACAAGTAGTCCCTATAGAAATGCATGAAGCATTATACTCATTGTACAGCACTACCCCCAGTCTACAGTAATGAGATAACTCACTCCAGAGCCTGGCACGCAAGCAGCCTGGCCTAGCACATGTGCTCACCCTGCACGCAACGGCTGGTTTCTGTGTAATGGAAGAAGAAAGGATGTGTATGTGAGTTGAGCGGGATGCTCAGGCCTGGCTTTGGGTCCAGTTCCAATGACTAGTCCATGTGGCTACTGTTCACATGGCTCTCACGCGGGCCAGACACCACGGAAACCATAAGGTGGGACAGGATCGATGGGACAACTGTTGTGGCCACTGTCTGTGTGTTTCAGCCCCAGTCCTTACAGGCCTCCAGGACCCTGGCTGGGGCAGTTCTGCTGGGGTGATGTAACCCCAGCTGGGCTGGAGGCTGATTTTCCCCCAAAGGTGTGGAGGAGGCCCACCCACGGAGATGGAGACTCCTGGAGGGACACGGAGGAAATGATGGAAATTGCAGAGACAGTGGCAGAGACAGGCAAGAGGTGTGGGAAGAGGGAAAATGGGTGCAGCTCGATCCAGACAGGCTTCTACCAAACCCACCCCAGCATTCCCCATTGATGGAGCCAAACATCTGGCTTCAGTTTGTTCACACGGAGCTTATGTTATGTTATGGGCAGCGTAAAGAATTCTATTTAAAATAGTAAATTATGGTACAAACATTCTATGGAGTACCAGGCAGCTATTAAAAAGAGTAAAGCAGCATGATTCAGAATTCCACTTCTGGGCATATATGCAGAATAACTGAAAGCCAGGTCTTGAAGAGGTATTTGCACATCTGTGTTCACAGCAGCATTATTCACAATAGCCAAAAGTGGAAGCAAGCCAAATGTCCATCAATGGATGAATGGATAAGCTAAATGCGGTCCATCCATAAAATGGAATATTATGCAGCCTTGGAAAGGACAACATAGGGAGACTCCATCTCTACAAAAAA | pathogenic | 79,694 |
Mutation found at chromosome 4 position 5708264, gene EVC2 (EvC ciliary complex subunit 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | GCAATCACTGTGTGCAATTAGGCATTGGTCTCCCAGCCCCCTGCACACAGCATGGGACTTAGCAAAGGTGCAATAAATATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGACACATAGATAGATACATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTGTGCTCTGGGAACAGCCCTTACACCATTGCTCAGAAGAGGAAGCAGAGACCCTGAGGGCTGTGACTTGTCCCAGGCCCCACAAGAGGGAGTGGCCAAGGCAGGGACACACATGGCCAGAGCTCTTTCCTGTACAGTGTGCAGAAGGGCTATGCAAGACAGGCCCAGAGAGACGGAAGAAGGCTGGTCCCATCAACAGCTGGGATGGGCGTGGGCAGGGCCAGGGCCCAGGGGACGTGCTCAAGATGCCAAGGGCACCTGAATACAGGTGCTCATTCCCAGATTCCTGCAAAGGCAGGGGTTGCCCTTGAGGGTGAGGTACTCTACACCCACCATGGTCCTAGATGGCTTCAGGCCCTTCCCAGTAGGCACCGTCCCTCCCTTCTGGCAGGGACCACCCTCAACACCACTGTGGCTGACAGAGGCCAATGTGCACCAGGATTTCTGACACTGGCTTCCCAGAAGGAAGAGCTTGTGCAAAGCAGGTGAGGCCAGGCACGCAGGCTCTGAACTCGGGGGCCAGAGAGAGAGTACAGGACAGGCCTGGGGACGCGGCTCCCTGAGCCTTGGTTTTGTCACCTGCAAAACGGGCCAGATACTCCCATCTCACAGGGCAGATGCAAGTGAAAGGACCCAGGGAACATGTTCTGTCATTGGACTTTTGAAAGCTCAGGACACTGACATGGCGTTTTTCCAGTGAAAACCTAAAGACAGAAAGGGAGCAGGGTCTCTTTTAAGAGACTAAACCTCTGCCAGTGTCGCAAGTGTCCTGGGGTAGAGAACACAGCAGGACACGACCCACCACCCTAGGAGAGAGGTGGGAGGACCTCAGGGCAGCATCAATGGGCCAGACCATTGGCCAGGGCAGTCCTGGGAATAGGAGCCTGGGTGTGCTGTCAGGGGCAATAAGGTGGAGAGAAGAGTGCCAGCATGGGACAGGAGTGGCAGAATGTCTACCAGGACAGACCACCCCAGAGGTCTGGGGGAAAATGGATGGGAGACGTGGGAAAACCATCACCAAGGGCTGGAAGTGAAGTGGTGGGACCTGAAGCCAGGGAGTGGCAGTGGGGAGTGAGGAGGGGCAGACATCCGAGCTGATTTGGAGGAAAAGGCACTAGGACTGGTGACCAGCTTTGTCGGGGGAGGTCAAGTCTAGGGCTACAGCCAGGGATCCATGCCTTTCGAGTTTAGGACCACAGAGGGAGGGCCAGGGTGAAGTAGGAAGTGGCTAAATCCATCAGCCAGGAGAGTTCAGTCACCTAAGAGTCCAGCCAAGAGCCCCCACTTTTAAAAACCGCTGCAATTTCCCAGTGCTGGCCTCTGCAAGGGGCTCTGCATATGTGAGCTCATCTAACCCACTTCCACCCTCTGGGGTGGACGCCGCGACGGCCCCGTTTCAACGATCAGGAAACTGGGGCACAGGAGTGAACTGCCCTAGGTCGAAGCTCGTAAAATGGAGAGCAGGATTCGAACCAGGGTCGCTGGTGAAGTCCAAGCCGGCAGCTGCCACACCCCGAGGAAGGTCTCCAGTTTCCCTCGAAGCTTTCTGGCCGTGAGCGGGATACACCTAAGGGCCGCGAAGCACCCTATTCAGATCCTGCCCTCCCTTCCTCATTCTTTGCGAAATACTAAGGGTCCTCCCTGCCACCGCCGGTGTAGACAAAGTCAAACCACTACAGTCAGACCGGAGCCTGGGGTCGGGCCCTCCTTACCTGCGTGCTGCTCTCGGGCCCCGCCCCGCTCCGCCCCGGAGGGATCCTCAGGCCGGGCCCAGACCTAGGAGCCACCTGGGGATCCCGGGGTGGCTGCGCGCCGAGGGGGCGCCAGCGGGGACGTGAGCTGGCGCCGAGACAGCCTCGGCCCCCCAGCGCCAGGGCCACTGCCAGGAGACCCCCGGCCAGCACCCACGTGGGGCGCCCCCGGGAGCCCGAGGGGTCCATCGCCTGTCGGGACCCGCTACCTCAAAGCGGCGGGTGCCGCCGAGTCGCTGGAGCTTCCGGACCCCAGGCCCGCCCCGCCGCCGAGCATGCTCAGTGCGAGCCGCCGCCGAAAGTTTTCTGGAACAAACACCCGCATCTGGGGCTTGGCGGGCCAGGAGGTGCCGGACGGGCGTGGGAGGGGGAGAGCGAGTTGGCGCGGCCCAGGCGCCCGGCGGCCAGGCCTGGGTTTGCTTGCGCCCAAACCGAATCAGAGCGGGTCACTCCCCTGCTCCCCGAGGTTACCAGGACCCCAAGGGCCCCTCCGCTACCGCCTACCTGGGTCTGTAAGCCTCAGCTCAGACGCACTTCCCCTGGGAACGGTTTCCTGACACACGGATGTGAATCCAGAGTTTCCCCATCCCCGCTTAGAAAACGGAGAAGCATTTGGAGCGCGGGGCCGGGAGTCCTGGAGCACCCAGAAGGTTCAGGAAAGCTCGGGGAGGAGGGGGTGGCCGCAGAGAAGGAAAAGGACCCTCACTTCCGGTTGCGTTCAGTGCAGACCAGCTGAGCACCCACTGCCCGAGCCTGCTGTGGGTCAGCCCTGGGCCGGCCCGGGTGCCCCTCGCATTCCCAGTGGGAAACAGGCCAGCCGCTGGGCCACCTCTCTGGGGACCTAGAAAGAGGGGAGCTGGTGTCTGAAGTCGCAGCCCTAAGCAAGCTCTCCCTGAACTCTCCGAGGGGACAGGGATTTGCTTTGCCAAGGGACGCAGGAGGAGGAGGAGGAGAAAGACACAAAAAGGGGGACTGGTGGAGCCTTTTGTGTGCTTCCTCATCCCTGCCTAGGTCCTGGGTGACAGCTGACACCTGTTGACGGGGGAGGGCTCCACTCCCGCCAGCCTTCCTGCGGGGCAGGCTGTTAGGCTGTCTATAAAGTCTCAGGCCAGCGAGCCTGGCCCCTGGCAGCCTCTCTCCCCATAACCCAGACCATCCAAGGACAGGCCTTTCCTGACCTAACATGGACAAGGCCATGGGGTTCGAGAAGCTGAGAATTTATAAGCCAAGTTCCCCACACCAGGGGGTACGTGGCAGCTGTCAGGCATGTGACAAGACCACAGGCTAAATGCCAAGCATGTTGCTGGACCGTTGGAGTTGTTTGACAGTCAGTCATTTAAAGGTTAATTTAATAGTCAACAACTTTATGATAAAGTAAAAAGCAAATAACCCTACATTTAAAAAATCTCCTTAGTATTTTTTATGGAGTCAGGGTCTCACTATGTTGCCAAGACTGGTCTTAAACTCCTGGGCTCAGACAATCCTCCACTTGAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAACCACACCTGGCCCAAACACCACATTTTAAAAACTAAAGCCTAAGCATTCATGGAAATGTAAAACAAGAGCGTCAAGTTATTGCCCCCATACATGTCCCCAGGAACCTTGGAGATGCTTCTAAGGTAATATATAAGAAGCTCCACATAGCAGAGAGTTTGCCCTGAAGCCAGACACAGGTGTAAATGAGACAAGAATTCTGCCCCACTCCTTAATTGCAAATGAGTCACCTCTCCTCTCCAGCTGTCAGTTTCTTCATTTATTAAAAAAAGATGAAGAATTTGGATAACAGTTCCCATCTTGCCATGAGGAAATGATGAAACAAACTAGAAACAAGCTGGACATCTAGGCTGAAAGGACAAAGCCCTCCTCTGCTGAAGCAGATCCCCATGGTGTCCCCTAGCCCGGCCCACACAGGGAATTAAGCTCCACAGGGTAGGTGTGTGTGTGTGTGTGCCCCT | GCAATCACTGTGTGCAATTAGGCATTGGTCTCCCAGCCCCCTGCACACAGCATGGGACTTAGCAAAGGTGCAATAAATATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGACACATAGATAGATACATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTGTGCTCTGGGAACAGCCCTTACACCATTGCTCAGAAGAGGAAGCAGAGACCCTGAGGGCTGTGACTTGTCCCAGGCCCCACAAGAGGGAGTGGCCAAGGCAGGGACACACATGGCCAGAGCTCTTTCCTGTACAGTGTGCAGAAGGGCTATGCAAGACAGGCCCAGAGAGACGGAAGAAGGCTGGTCCCATCAACAGCTGGGATGGGCGTGGGCAGGGCCAGGGCCCAGGGGACGTGCTCAAGATGCCAAGGGCACCTGAATACAGGTGCTCATTCCCAGATTCCTGCAAAGGCAGGGGTTGCCCTTGAGGGTGAGGTACTCTACACCCACCATGGTCCTAGATGGCTTCAGGCCCTTCCCAGTAGGCACCGTCCCTCCCTTCTGGCAGGGACCACCCTCAACACCACTGTGGCTGACAGAGGCCAATGTGCACCAGGATTTCTGACACTGGCTTCCCAGAAGGAAGAGCTTGTGCAAAGCAGGTGAGGCCAGGCACGCAGGCTCTGAACTCGGGGGCCAGAGAGAGAGTACAGGACAGGCCTGGGGACGCGGCTCCCTGAGCCTTGGTTTTGTCACCTGCAAAACGGGCCAGATACTCCCATCTCACAGGGCAGATGCAAGTGAAAGGACCCAGGGAACATGTTCTGTCATTGGACTTTTGAAAGCTCAGGACACTGACATGGCGTTTTTCCAGTGAAAACCTAAAGACAGAAAGGGAGCAGGGTCTCTTTTAAGAGACTAAACCTCTGCCAGTGTCGCAAGTGTCCTGGGGTAGAGAACACAGCAGGACACGACCCACCACCCTAGGAGAGAGGTGGGAGGACCTCAGGGCAGCATCAATGGGCCAGACCATTGGCCAGGGCAGTCCTGGGAATAGGAGCCTGGGTGTGCTGTCAGGGGCAATAAGGTGGAGAGAAGAGTGCCAGCATGGGACAGGAGTGGCAGAATGTCTACCAGGACAGACCACCCCAGAGGTCTGGGGGAAAATGGATGGGAGACGTGGGAAAACCATCACCAAGGGCTGGAAGTGAAGTGGTGGGACCTGAAGCCAGGGAGTGGCAGTGGGGAGTGAGGAGGGGCAGACATCCGAGCTGATTTGGAGGAAAAGGCACTAGGACTGGTGACCAGCTTTGTCGGGGGAGGTCAAGTCTAGGGCTACAGCCAGGGATCCATGCCTTTCGAGTTTAGGACCACAGAGGGAGGGCCAGGGTGAAGTAGGAAGTGGCTAAATCCATCAGCCAGGAGAGTTCAGTCACCTAAGAGTCCAGCCAAGAGCCCCCACTTTTAAAAACCGCTGCAATTTCCCAGTGCTGGCCTCTGCAAGGGGCTCTGCATATGTGAGCTCATCTAACCCACTTCCACCCTCTGGGGTGGACGCCGCGACGGCCCCGTTTCAACGATCAGGAAACTGGGGCACAGGAGTGAACTGCCCTAGGTCGAAGCTCGTAAAATGGAGAGCAGGATTCGAACCAGGGTCGCTGGTGAAGTCCAAGCCGGCAGCTGCCACACCCCGAGGAAGGTCTCCAGTTTCCCTCGAAGCTTTCTGGCCGTGAGCGGGATACACCTAAGGGCCGCGAAGCACCCTATTCAGATCCTGCCCTCCCTTCCTCATTCTTTGCGAAATACTAAGGGTCCTCCCTGCCACCGCCGGTGTAGACAAAGTCAAACCACTACAGTCAGACCGGAGCCTGCTCTCGGGCCCCGCCCCGCTCCGCCCCGGAGGGATCCTCAGGCCGGGCCCAGACCTAGGAGCCACCTGGGGATCCCGGGGTGGCTGCGCGCCGAGGGGGCGCCAGCGGGGACGTGAGCTGGCGCCGAGACAGCCTCGGCCCCCCAGCGCCAGGGCCACTGCCAGGAGACCCCCGGCCAGCACCCACGTGGGGCGCCCCCGGGAGCCCGAGGGGTCCATCGCCTGTCGGGACCCGCTACCTCAAAGCGGCGGGTGCCGCCGAGTCGCTGGAGCTTCCGGACCCCAGGCCCGCCCCGCCGCCGAGCATGCTCAGTGCGAGCCGCCGCCGAAAGTTTTCTGGAACAAACACCCGCATCTGGGGCTTGGCGGGCCAGGAGGTGCCGGACGGGCGTGGGAGGGGGAGAGCGAGTTGGCGCGGCCCAGGCGCCCGGCGGCCAGGCCTGGGTTTGCTTGCGCCCAAACCGAATCAGAGCGGGTCACTCCCCTGCTCCCCGAGGTTACCAGGACCCCAAGGGCCCCTCCGCTACCGCCTACCTGGGTCTGTAAGCCTCAGCTCAGACGCACTTCCCCTGGGAACGGTTTCCTGACACACGGATGTGAATCCAGAGTTTCCCCATCCCCGCTTAGAAAACGGAGAAGCATTTGGAGCGCGGGGCCGGGAGTCCTGGAGCACCCAGAAGGTTCAGGAAAGCTCGGGGAGGAGGGGGTGGCCGCAGAGAAGGAAAAGGACCCTCACTTCCGGTTGCGTTCAGTGCAGACCAGCTGAGCACCCACTGCCCGAGCCTGCTGTGGGTCAGCCCTGGGCCGGCCCGGGTGCCCCTCGCATTCCCAGTGGGAAACAGGCCAGCCGCTGGGCCACCTCTCTGGGGACCTAGAAAGAGGGGAGCTGGTGTCTGAAGTCGCAGCCCTAAGCAAGCTCTCCCTGAACTCTCCGAGGGGACAGGGATTTGCTTTGCCAAGGGACGCAGGAGGAGGAGGAGGAGAAAGACACAAAAAGGGGGACTGGTGGAGCCTTTTGTGTGCTTCCTCATCCCTGCCTAGGTCCTGGGTGACAGCTGACACCTGTTGACGGGGGAGGGCTCCACTCCCGCCAGCCTTCCTGCGGGGCAGGCTGTTAGGCTGTCTATAAAGTCTCAGGCCAGCGAGCCTGGCCCCTGGCAGCCTCTCTCCCCATAACCCAGACCATCCAAGGACAGGCCTTTCCTGACCTAACATGGACAAGGCCATGGGGTTCGAGAAGCTGAGAATTTATAAGCCAAGTTCCCCACACCAGGGGGTACGTGGCAGCTGTCAGGCATGTGACAAGACCACAGGCTAAATGCCAAGCATGTTGCTGGACCGTTGGAGTTGTTTGACAGTCAGTCATTTAAAGGTTAATTTAATAGTCAACAACTTTATGATAAAGTAAAAAGCAAATAACCCTACATTTAAAAAATCTCCTTAGTATTTTTTATGGAGTCAGGGTCTCACTATGTTGCCAAGACTGGTCTTAAACTCCTGGGCTCAGACAATCCTCCACTTGAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAACCACACCTGGCCCAAACACCACATTTTAAAAACTAAAGCCTAAGCATTCATGGAAATGTAAAACAAGAGCGTCAAGTTATTGCCCCCATACATGTCCCCAGGAACCTTGGAGATGCTTCTAAGGTAATATATAAGAAGCTCCACATAGCAGAGAGTTTGCCCTGAAGCCAGACACAGGTGTAAATGAGACAAGAATTCTGCCCCACTCCTTAATTGCAAATGAGTCACCTCTCCTCTCCAGCTGTCAGTTTCTTCATTTATTAAAAAAAGATGAAGAATTTGGATAACAGTTCCCATCTTGCCATGAGGAAATGATGAAACAAACTAGAAACAAGCTGGACATCTAGGCTGAAAGGACAAAGCCCTCCTCTGCTGAAGCAGATCCCCATGGTGTCCCCTAGCCCGGCCCACACAGGGAATTAAGCTCCACAGGGTAGGTGTGTGTGTGTGTGTGCCCCTNNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 79,698 |
Is the genetic variant on chromosome 4, position 5708305, gene EVC2 (EvC ciliary complex subunit 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | TGCACACAGCATGGGACTTAGCAAAGGTGCAATAAATATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGACACATAGATAGATACATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTGTGCTCTGGGAACAGCCCTTACACCATTGCTCAGAAGAGGAAGCAGAGACCCTGAGGGCTGTGACTTGTCCCAGGCCCCACAAGAGGGAGTGGCCAAGGCAGGGACACACATGGCCAGAGCTCTTTCCTGTACAGTGTGCAGAAGGGCTATGCAAGACAGGCCCAGAGAGACGGAAGAAGGCTGGTCCCATCAACAGCTGGGATGGGCGTGGGCAGGGCCAGGGCCCAGGGGACGTGCTCAAGATGCCAAGGGCACCTGAATACAGGTGCTCATTCCCAGATTCCTGCAAAGGCAGGGGTTGCCCTTGAGGGTGAGGTACTCTACACCCACCATGGTCCTAGATGGCTTCAGGCCCTTCCCAGTAGGCACCGTCCCTCCCTTCTGGCAGGGACCACCCTCAACACCACTGTGGCTGACAGAGGCCAATGTGCACCAGGATTTCTGACACTGGCTTCCCAGAAGGAAGAGCTTGTGCAAAGCAGGTGAGGCCAGGCACGCAGGCTCTGAACTCGGGGGCCAGAGAGAGAGTACAGGACAGGCCTGGGGACGCGGCTCCCTGAGCCTTGGTTTTGTCACCTGCAAAACGGGCCAGATACTCCCATCTCACAGGGCAGATGCAAGTGAAAGGACCCAGGGAACATGTTCTGTCATTGGACTTTTGAAAGCTCAGGACACTGACATGGCGTTTTTCCAGTGAAAACCTAAAGACAGAAAGGGAGCAGGGTCTCTTTTAAGAGACTAAACCTCTGCCAGTGTCGCAAGTGTCCTGGGGTAGAGAACACAGCAGGACACGACCCACCACCCTAGGAGAGAGGTGGGAGGACCTCAGGGCAGCATCAATGGGCCAGACCATTGGCCAGGGCAGTCCTGGGAATAGGAGCCTGGGTGTGCTGTCAGGGGCAATAAGGTGGAGAGAAGAGTGCCAGCATGGGACAGGAGTGGCAGAATGTCTACCAGGACAGACCACCCCAGAGGTCTGGGGGAAAATGGATGGGAGACGTGGGAAAACCATCACCAAGGGCTGGAAGTGAAGTGGTGGGACCTGAAGCCAGGGAGTGGCAGTGGGGAGTGAGGAGGGGCAGACATCCGAGCTGATTTGGAGGAAAAGGCACTAGGACTGGTGACCAGCTTTGTCGGGGGAGGTCAAGTCTAGGGCTACAGCCAGGGATCCATGCCTTTCGAGTTTAGGACCACAGAGGGAGGGCCAGGGTGAAGTAGGAAGTGGCTAAATCCATCAGCCAGGAGAGTTCAGTCACCTAAGAGTCCAGCCAAGAGCCCCCACTTTTAAAAACCGCTGCAATTTCCCAGTGCTGGCCTCTGCAAGGGGCTCTGCATATGTGAGCTCATCTAACCCACTTCCACCCTCTGGGGTGGACGCCGCGACGGCCCCGTTTCAACGATCAGGAAACTGGGGCACAGGAGTGAACTGCCCTAGGTCGAAGCTCGTAAAATGGAGAGCAGGATTCGAACCAGGGTCGCTGGTGAAGTCCAAGCCGGCAGCTGCCACACCCCGAGGAAGGTCTCCAGTTTCCCTCGAAGCTTTCTGGCCGTGAGCGGGATACACCTAAGGGCCGCGAAGCACCCTATTCAGATCCTGCCCTCCCTTCCTCATTCTTTGCGAAATACTAAGGGTCCTCCCTGCCACCGCCGGTGTAGACAAAGTCAAACCACTACAGTCAGACCGGAGCCTGGGGTCGGGCCCTCCTTACCTGCGTGCTGCTCTCGGGCCCCGCCCCGCTCCGCCCCGGAGGGATCCTCAGGCCGGGCCCAGACCTAGGAGCCACCTGGGGATCCCGGGGTGGCTGCGCGCCGAGGGGGCGCCAGCGGGGACGTGAGCTGGCGCCGAGACAGCCTCGGCCCCCCAGCGCCAGGGCCACTGCCAGGAGACCCCCGGCCAGCACCCACGTGGGGCGCCCCCGGGAGCCCGAGGGGTCCATCGCCTGTCGGGACCCGCTACCTCAAAGCGGCGGGTGCCGCCGAGTCGCTGGAGCTTCCGGACCCCAGGCCCGCCCCGCCGCCGAGCATGCTCAGTGCGAGCCGCCGCCGAAAGTTTTCTGGAACAAACACCCGCATCTGGGGCTTGGCGGGCCAGGAGGTGCCGGACGGGCGTGGGAGGGGGAGAGCGAGTTGGCGCGGCCCAGGCGCCCGGCGGCCAGGCCTGGGTTTGCTTGCGCCCAAACCGAATCAGAGCGGGTCACTCCCCTGCTCCCCGAGGTTACCAGGACCCCAAGGGCCCCTCCGCTACCGCCTACCTGGGTCTGTAAGCCTCAGCTCAGACGCACTTCCCCTGGGAACGGTTTCCTGACACACGGATGTGAATCCAGAGTTTCCCCATCCCCGCTTAGAAAACGGAGAAGCATTTGGAGCGCGGGGCCGGGAGTCCTGGAGCACCCAGAAGGTTCAGGAAAGCTCGGGGAGGAGGGGGTGGCCGCAGAGAAGGAAAAGGACCCTCACTTCCGGTTGCGTTCAGTGCAGACCAGCTGAGCACCCACTGCCCGAGCCTGCTGTGGGTCAGCCCTGGGCCGGCCCGGGTGCCCCTCGCATTCCCAGTGGGAAACAGGCCAGCCGCTGGGCCACCTCTCTGGGGACCTAGAAAGAGGGGAGCTGGTGTCTGAAGTCGCAGCCCTAAGCAAGCTCTCCCTGAACTCTCCGAGGGGACAGGGATTTGCTTTGCCAAGGGACGCAGGAGGAGGAGGAGGAGAAAGACACAAAAAGGGGGACTGGTGGAGCCTTTTGTGTGCTTCCTCATCCCTGCCTAGGTCCTGGGTGACAGCTGACACCTGTTGACGGGGGAGGGCTCCACTCCCGCCAGCCTTCCTGCGGGGCAGGCTGTTAGGCTGTCTATAAAGTCTCAGGCCAGCGAGCCTGGCCCCTGGCAGCCTCTCTCCCCATAACCCAGACCATCCAAGGACAGGCCTTTCCTGACCTAACATGGACAAGGCCATGGGGTTCGAGAAGCTGAGAATTTATAAGCCAAGTTCCCCACACCAGGGGGTACGTGGCAGCTGTCAGGCATGTGACAAGACCACAGGCTAAATGCCAAGCATGTTGCTGGACCGTTGGAGTTGTTTGACAGTCAGTCATTTAAAGGTTAATTTAATAGTCAACAACTTTATGATAAAGTAAAAAGCAAATAACCCTACATTTAAAAAATCTCCTTAGTATTTTTTATGGAGTCAGGGTCTCACTATGTTGCCAAGACTGGTCTTAAACTCCTGGGCTCAGACAATCCTCCACTTGAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAACCACACCTGGCCCAAACACCACATTTTAAAAACTAAAGCCTAAGCATTCATGGAAATGTAAAACAAGAGCGTCAAGTTATTGCCCCCATACATGTCCCCAGGAACCTTGGAGATGCTTCTAAGGTAATATATAAGAAGCTCCACATAGCAGAGAGTTTGCCCTGAAGCCAGACACAGGTGTAAATGAGACAAGAATTCTGCCCCACTCCTTAATTGCAAATGAGTCACCTCTCCTCTCCAGCTGTCAGTTTCTTCATTTATTAAAAAAAGATGAAGAATTTGGATAACAGTTCCCATCTTGCCATGAGGAAATGATGAAACAAACTAGAAACAAGCTGGACATCTAGGCTGAAAGGACAAAGCCCTCCTCTGCTGAAGCAGATCCCCATGGTGTCCCCTAGCCCGGCCCACACAGGGAATTAAGCTCCACAGGGTAGGTGTGTGTGTGTGTGTGCCCCTGAGTGCAAGTGTGCAGTCGTGCATGTGCATGTGTGCTTTAC | TGCACACAGCATGGGACTTAGCAAAGGTGCAATAAATATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGACACATAGATAGATACATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTGTGCTCTGGGAACAGCCCTTACACCATTGCTCAGAAGAGGAAGCAGAGACCCTGAGGGCTGTGACTTGTCCCAGGCCCCACAAGAGGGAGTGGCCAAGGCAGGGACACACATGGCCAGAGCTCTTTCCTGTACAGTGTGCAGAAGGGCTATGCAAGACAGGCCCAGAGAGACGGAAGAAGGCTGGTCCCATCAACAGCTGGGATGGGCGTGGGCAGGGCCAGGGCCCAGGGGACGTGCTCAAGATGCCAAGGGCACCTGAATACAGGTGCTCATTCCCAGATTCCTGCAAAGGCAGGGGTTGCCCTTGAGGGTGAGGTACTCTACACCCACCATGGTCCTAGATGGCTTCAGGCCCTTCCCAGTAGGCACCGTCCCTCCCTTCTGGCAGGGACCACCCTCAACACCACTGTGGCTGACAGAGGCCAATGTGCACCAGGATTTCTGACACTGGCTTCCCAGAAGGAAGAGCTTGTGCAAAGCAGGTGAGGCCAGGCACGCAGGCTCTGAACTCGGGGGCCAGAGAGAGAGTACAGGACAGGCCTGGGGACGCGGCTCCCTGAGCCTTGGTTTTGTCACCTGCAAAACGGGCCAGATACTCCCATCTCACAGGGCAGATGCAAGTGAAAGGACCCAGGGAACATGTTCTGTCATTGGACTTTTGAAAGCTCAGGACACTGACATGGCGTTTTTCCAGTGAAAACCTAAAGACAGAAAGGGAGCAGGGTCTCTTTTAAGAGACTAAACCTCTGCCAGTGTCGCAAGTGTCCTGGGGTAGAGAACACAGCAGGACACGACCCACCACCCTAGGAGAGAGGTGGGAGGACCTCAGGGCAGCATCAATGGGCCAGACCATTGGCCAGGGCAGTCCTGGGAATAGGAGCCTGGGTGTGCTGTCAGGGGCAATAAGGTGGAGAGAAGAGTGCCAGCATGGGACAGGAGTGGCAGAATGTCTACCAGGACAGACCACCCCAGAGGTCTGGGGGAAAATGGATGGGAGACGTGGGAAAACCATCACCAAGGGCTGGAAGTGAAGTGGTGGGACCTGAAGCCAGGGAGTGGCAGTGGGGAGTGAGGAGGGGCAGACATCCGAGCTGATTTGGAGGAAAAGGCACTAGGACTGGTGACCAGCTTTGTCGGGGGAGGTCAAGTCTAGGGCTACAGCCAGGGATCCATGCCTTTCGAGTTTAGGACCACAGAGGGAGGGCCAGGGTGAAGTAGGAAGTGGCTAAATCCATCAGCCAGGAGAGTTCAGTCACCTAAGAGTCCAGCCAAGAGCCCCCACTTTTAAAAACCGCTGCAATTTCCCAGTGCTGGCCTCTGCAAGGGGCTCTGCATATGTGAGCTCATCTAACCCACTTCCACCCTCTGGGGTGGACGCCGCGACGGCCCCGTTTCAACGATCAGGAAACTGGGGCACAGGAGTGAACTGCCCTAGGTCGAAGCTCGTAAAATGGAGAGCAGGATTCGAACCAGGGTCGCTGGTGAAGTCCAAGCCGGCAGCTGCCACACCCCGAGGAAGGTCTCCAGTTTCCCTCGAAGCTTTCTGGCCGTGAGCGGGATACACCTAAGGGCCGCGAAGCACCCTATTCAGATCCTGCCCTCCCTTCCTCATTCTTTGCGAAATACTAAGGGTCCTCCCTGCCACCGCCGGTGTAGACAAAGTCAAACCACTACAGTCAGACCGGAGCCTGGGGTCGGGCCCTCCTTACCTGCGTGCTGCTCTCGGGCCCCGCCCCGGAGGGATCCTCAGGCCGGGCCCAGACCTAGGAGCCACCTGGGGATCCCGGGGTGGCTGCGCGCCGAGGGGGCGCCAGCGGGGACGTGAGCTGGCGCCGAGACAGCCTCGGCCCCCCAGCGCCAGGGCCACTGCCAGGAGACCCCCGGCCAGCACCCACGTGGGGCGCCCCCGGGAGCCCGAGGGGTCCATCGCCTGTCGGGACCCGCTACCTCAAAGCGGCGGGTGCCGCCGAGTCGCTGGAGCTTCCGGACCCCAGGCCCGCCCCGCCGCCGAGCATGCTCAGTGCGAGCCGCCGCCGAAAGTTTTCTGGAACAAACACCCGCATCTGGGGCTTGGCGGGCCAGGAGGTGCCGGACGGGCGTGGGAGGGGGAGAGCGAGTTGGCGCGGCCCAGGCGCCCGGCGGCCAGGCCTGGGTTTGCTTGCGCCCAAACCGAATCAGAGCGGGTCACTCCCCTGCTCCCCGAGGTTACCAGGACCCCAAGGGCCCCTCCGCTACCGCCTACCTGGGTCTGTAAGCCTCAGCTCAGACGCACTTCCCCTGGGAACGGTTTCCTGACACACGGATGTGAATCCAGAGTTTCCCCATCCCCGCTTAGAAAACGGAGAAGCATTTGGAGCGCGGGGCCGGGAGTCCTGGAGCACCCAGAAGGTTCAGGAAAGCTCGGGGAGGAGGGGGTGGCCGCAGAGAAGGAAAAGGACCCTCACTTCCGGTTGCGTTCAGTGCAGACCAGCTGAGCACCCACTGCCCGAGCCTGCTGTGGGTCAGCCCTGGGCCGGCCCGGGTGCCCCTCGCATTCCCAGTGGGAAACAGGCCAGCCGCTGGGCCACCTCTCTGGGGACCTAGAAAGAGGGGAGCTGGTGTCTGAAGTCGCAGCCCTAAGCAAGCTCTCCCTGAACTCTCCGAGGGGACAGGGATTTGCTTTGCCAAGGGACGCAGGAGGAGGAGGAGGAGAAAGACACAAAAAGGGGGACTGGTGGAGCCTTTTGTGTGCTTCCTCATCCCTGCCTAGGTCCTGGGTGACAGCTGACACCTGTTGACGGGGGAGGGCTCCACTCCCGCCAGCCTTCCTGCGGGGCAGGCTGTTAGGCTGTCTATAAAGTCTCAGGCCAGCGAGCCTGGCCCCTGGCAGCCTCTCTCCCCATAACCCAGACCATCCAAGGACAGGCCTTTCCTGACCTAACATGGACAAGGCCATGGGGTTCGAGAAGCTGAGAATTTATAAGCCAAGTTCCCCACACCAGGGGGTACGTGGCAGCTGTCAGGCATGTGACAAGACCACAGGCTAAATGCCAAGCATGTTGCTGGACCGTTGGAGTTGTTTGACAGTCAGTCATTTAAAGGTTAATTTAATAGTCAACAACTTTATGATAAAGTAAAAAGCAAATAACCCTACATTTAAAAAATCTCCTTAGTATTTTTTATGGAGTCAGGGTCTCACTATGTTGCCAAGACTGGTCTTAAACTCCTGGGCTCAGACAATCCTCCACTTGAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAACCACACCTGGCCCAAACACCACATTTTAAAAACTAAAGCCTAAGCATTCATGGAAATGTAAAACAAGAGCGTCAAGTTATTGCCCCCATACATGTCCCCAGGAACCTTGGAGATGCTTCTAAGGTAATATATAAGAAGCTCCACATAGCAGAGAGTTTGCCCTGAAGCCAGACACAGGTGTAAATGAGACAAGAATTCTGCCCCACTCCTTAATTGCAAATGAGTCACCTCTCCTCTCCAGCTGTCAGTTTCTTCATTTATTAAAAAAAGATGAAGAATTTGGATAACAGTTCCCATCTTGCCATGAGGAAATGATGAAACAAACTAGAAACAAGCTGGACATCTAGGCTGAAAGGACAAAGCCCTCCTCTGCTGAAGCAGATCCCCATGGTGTCCCCTAGCCCGGCCCACACAGGGAATTAAGCTCCACAGGGTAGGTGTGTGTGTGTGTGTGCCCCTGAGTGCAAGTGTGCAGTCGTGCATGTGCATGTGTGCTTTACNNNNNNNNNN | pathogenic | 79,699 |
Does the genetic variant at chromosome 4, position 5708315, impacting gene EVC2 (EvC ciliary complex subunit 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | ATGGGACTTAGCAAAGGTGCAATAAATATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGACACATAGATAGATACATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTGTGCTCTGGGAACAGCCCTTACACCATTGCTCAGAAGAGGAAGCAGAGACCCTGAGGGCTGTGACTTGTCCCAGGCCCCACAAGAGGGAGTGGCCAAGGCAGGGACACACATGGCCAGAGCTCTTTCCTGTACAGTGTGCAGAAGGGCTATGCAAGACAGGCCCAGAGAGACGGAAGAAGGCTGGTCCCATCAACAGCTGGGATGGGCGTGGGCAGGGCCAGGGCCCAGGGGACGTGCTCAAGATGCCAAGGGCACCTGAATACAGGTGCTCATTCCCAGATTCCTGCAAAGGCAGGGGTTGCCCTTGAGGGTGAGGTACTCTACACCCACCATGGTCCTAGATGGCTTCAGGCCCTTCCCAGTAGGCACCGTCCCTCCCTTCTGGCAGGGACCACCCTCAACACCACTGTGGCTGACAGAGGCCAATGTGCACCAGGATTTCTGACACTGGCTTCCCAGAAGGAAGAGCTTGTGCAAAGCAGGTGAGGCCAGGCACGCAGGCTCTGAACTCGGGGGCCAGAGAGAGAGTACAGGACAGGCCTGGGGACGCGGCTCCCTGAGCCTTGGTTTTGTCACCTGCAAAACGGGCCAGATACTCCCATCTCACAGGGCAGATGCAAGTGAAAGGACCCAGGGAACATGTTCTGTCATTGGACTTTTGAAAGCTCAGGACACTGACATGGCGTTTTTCCAGTGAAAACCTAAAGACAGAAAGGGAGCAGGGTCTCTTTTAAGAGACTAAACCTCTGCCAGTGTCGCAAGTGTCCTGGGGTAGAGAACACAGCAGGACACGACCCACCACCCTAGGAGAGAGGTGGGAGGACCTCAGGGCAGCATCAATGGGCCAGACCATTGGCCAGGGCAGTCCTGGGAATAGGAGCCTGGGTGTGCTGTCAGGGGCAATAAGGTGGAGAGAAGAGTGCCAGCATGGGACAGGAGTGGCAGAATGTCTACCAGGACAGACCACCCCAGAGGTCTGGGGGAAAATGGATGGGAGACGTGGGAAAACCATCACCAAGGGCTGGAAGTGAAGTGGTGGGACCTGAAGCCAGGGAGTGGCAGTGGGGAGTGAGGAGGGGCAGACATCCGAGCTGATTTGGAGGAAAAGGCACTAGGACTGGTGACCAGCTTTGTCGGGGGAGGTCAAGTCTAGGGCTACAGCCAGGGATCCATGCCTTTCGAGTTTAGGACCACAGAGGGAGGGCCAGGGTGAAGTAGGAAGTGGCTAAATCCATCAGCCAGGAGAGTTCAGTCACCTAAGAGTCCAGCCAAGAGCCCCCACTTTTAAAAACCGCTGCAATTTCCCAGTGCTGGCCTCTGCAAGGGGCTCTGCATATGTGAGCTCATCTAACCCACTTCCACCCTCTGGGGTGGACGCCGCGACGGCCCCGTTTCAACGATCAGGAAACTGGGGCACAGGAGTGAACTGCCCTAGGTCGAAGCTCGTAAAATGGAGAGCAGGATTCGAACCAGGGTCGCTGGTGAAGTCCAAGCCGGCAGCTGCCACACCCCGAGGAAGGTCTCCAGTTTCCCTCGAAGCTTTCTGGCCGTGAGCGGGATACACCTAAGGGCCGCGAAGCACCCTATTCAGATCCTGCCCTCCCTTCCTCATTCTTTGCGAAATACTAAGGGTCCTCCCTGCCACCGCCGGTGTAGACAAAGTCAAACCACTACAGTCAGACCGGAGCCTGGGGTCGGGCCCTCCTTACCTGCGTGCTGCTCTCGGGCCCCGCCCCGCTCCGCCCCGGAGGGATCCTCAGGCCGGGCCCAGACCTAGGAGCCACCTGGGGATCCCGGGGTGGCTGCGCGCCGAGGGGGCGCCAGCGGGGACGTGAGCTGGCGCCGAGACAGCCTCGGCCCCCCAGCGCCAGGGCCACTGCCAGGAGACCCCCGGCCAGCACCCACGTGGGGCGCCCCCGGGAGCCCGAGGGGTCCATCGCCTGTCGGGACCCGCTACCTCAAAGCGGCGGGTGCCGCCGAGTCGCTGGAGCTTCCGGACCCCAGGCCCGCCCCGCCGCCGAGCATGCTCAGTGCGAGCCGCCGCCGAAAGTTTTCTGGAACAAACACCCGCATCTGGGGCTTGGCGGGCCAGGAGGTGCCGGACGGGCGTGGGAGGGGGAGAGCGAGTTGGCGCGGCCCAGGCGCCCGGCGGCCAGGCCTGGGTTTGCTTGCGCCCAAACCGAATCAGAGCGGGTCACTCCCCTGCTCCCCGAGGTTACCAGGACCCCAAGGGCCCCTCCGCTACCGCCTACCTGGGTCTGTAAGCCTCAGCTCAGACGCACTTCCCCTGGGAACGGTTTCCTGACACACGGATGTGAATCCAGAGTTTCCCCATCCCCGCTTAGAAAACGGAGAAGCATTTGGAGCGCGGGGCCGGGAGTCCTGGAGCACCCAGAAGGTTCAGGAAAGCTCGGGGAGGAGGGGGTGGCCGCAGAGAAGGAAAAGGACCCTCACTTCCGGTTGCGTTCAGTGCAGACCAGCTGAGCACCCACTGCCCGAGCCTGCTGTGGGTCAGCCCTGGGCCGGCCCGGGTGCCCCTCGCATTCCCAGTGGGAAACAGGCCAGCCGCTGGGCCACCTCTCTGGGGACCTAGAAAGAGGGGAGCTGGTGTCTGAAGTCGCAGCCCTAAGCAAGCTCTCCCTGAACTCTCCGAGGGGACAGGGATTTGCTTTGCCAAGGGACGCAGGAGGAGGAGGAGGAGAAAGACACAAAAAGGGGGACTGGTGGAGCCTTTTGTGTGCTTCCTCATCCCTGCCTAGGTCCTGGGTGACAGCTGACACCTGTTGACGGGGGAGGGCTCCACTCCCGCCAGCCTTCCTGCGGGGCAGGCTGTTAGGCTGTCTATAAAGTCTCAGGCCAGCGAGCCTGGCCCCTGGCAGCCTCTCTCCCCATAACCCAGACCATCCAAGGACAGGCCTTTCCTGACCTAACATGGACAAGGCCATGGGGTTCGAGAAGCTGAGAATTTATAAGCCAAGTTCCCCACACCAGGGGGTACGTGGCAGCTGTCAGGCATGTGACAAGACCACAGGCTAAATGCCAAGCATGTTGCTGGACCGTTGGAGTTGTTTGACAGTCAGTCATTTAAAGGTTAATTTAATAGTCAACAACTTTATGATAAAGTAAAAAGCAAATAACCCTACATTTAAAAAATCTCCTTAGTATTTTTTATGGAGTCAGGGTCTCACTATGTTGCCAAGACTGGTCTTAAACTCCTGGGCTCAGACAATCCTCCACTTGAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAACCACACCTGGCCCAAACACCACATTTTAAAAACTAAAGCCTAAGCATTCATGGAAATGTAAAACAAGAGCGTCAAGTTATTGCCCCCATACATGTCCCCAGGAACCTTGGAGATGCTTCTAAGGTAATATATAAGAAGCTCCACATAGCAGAGAGTTTGCCCTGAAGCCAGACACAGGTGTAAATGAGACAAGAATTCTGCCCCACTCCTTAATTGCAAATGAGTCACCTCTCCTCTCCAGCTGTCAGTTTCTTCATTTATTAAAAAAAGATGAAGAATTTGGATAACAGTTCCCATCTTGCCATGAGGAAATGATGAAACAAACTAGAAACAAGCTGGACATCTAGGCTGAAAGGACAAAGCCCTCCTCTGCTGAAGCAGATCCCCATGGTGTCCCCTAGCCCGGCCCACACAGGGAATTAAGCTCCACAGGGTAGGTGTGTGTGTGTGTGTGCCCCTGAGTGCAAGTGTGCAGTCGTGCATGTGCATGTGTGCTTTACCCAGGCACCC | ATGGGACTTAGCAAAGGTGCAATAAATATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGACACATAGATAGATACATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTGTGCTCTGGGAACAGCCCTTACACCATTGCTCAGAAGAGGAAGCAGAGACCCTGAGGGCTGTGACTTGTCCCAGGCCCCACAAGAGGGAGTGGCCAAGGCAGGGACACACATGGCCAGAGCTCTTTCCTGTACAGTGTGCAGAAGGGCTATGCAAGACAGGCCCAGAGAGACGGAAGAAGGCTGGTCCCATCAACAGCTGGGATGGGCGTGGGCAGGGCCAGGGCCCAGGGGACGTGCTCAAGATGCCAAGGGCACCTGAATACAGGTGCTCATTCCCAGATTCCTGCAAAGGCAGGGGTTGCCCTTGAGGGTGAGGTACTCTACACCCACCATGGTCCTAGATGGCTTCAGGCCCTTCCCAGTAGGCACCGTCCCTCCCTTCTGGCAGGGACCACCCTCAACACCACTGTGGCTGACAGAGGCCAATGTGCACCAGGATTTCTGACACTGGCTTCCCAGAAGGAAGAGCTTGTGCAAAGCAGGTGAGGCCAGGCACGCAGGCTCTGAACTCGGGGGCCAGAGAGAGAGTACAGGACAGGCCTGGGGACGCGGCTCCCTGAGCCTTGGTTTTGTCACCTGCAAAACGGGCCAGATACTCCCATCTCACAGGGCAGATGCAAGTGAAAGGACCCAGGGAACATGTTCTGTCATTGGACTTTTGAAAGCTCAGGACACTGACATGGCGTTTTTCCAGTGAAAACCTAAAGACAGAAAGGGAGCAGGGTCTCTTTTAAGAGACTAAACCTCTGCCAGTGTCGCAAGTGTCCTGGGGTAGAGAACACAGCAGGACACGACCCACCACCCTAGGAGAGAGGTGGGAGGACCTCAGGGCAGCATCAATGGGCCAGACCATTGGCCAGGGCAGTCCTGGGAATAGGAGCCTGGGTGTGCTGTCAGGGGCAATAAGGTGGAGAGAAGAGTGCCAGCATGGGACAGGAGTGGCAGAATGTCTACCAGGACAGACCACCCCAGAGGTCTGGGGGAAAATGGATGGGAGACGTGGGAAAACCATCACCAAGGGCTGGAAGTGAAGTGGTGGGACCTGAAGCCAGGGAGTGGCAGTGGGGAGTGAGGAGGGGCAGACATCCGAGCTGATTTGGAGGAAAAGGCACTAGGACTGGTGACCAGCTTTGTCGGGGGAGGTCAAGTCTAGGGCTACAGCCAGGGATCCATGCCTTTCGAGTTTAGGACCACAGAGGGAGGGCCAGGGTGAAGTAGGAAGTGGCTAAATCCATCAGCCAGGAGAGTTCAGTCACCTAAGAGTCCAGCCAAGAGCCCCCACTTTTAAAAACCGCTGCAATTTCCCAGTGCTGGCCTCTGCAAGGGGCTCTGCATATGTGAGCTCATCTAACCCACTTCCACCCTCTGGGGTGGACGCCGCGACGGCCCCGTTTCAACGATCAGGAAACTGGGGCACAGGAGTGAACTGCCCTAGGTCGAAGCTCGTAAAATGGAGAGCAGGATTCGAACCAGGGTCGCTGGTGAAGTCCAAGCCGGCAGCTGCCACACCCCGAGGAAGGTCTCCAGTTTCCCTCGAAGCTTTCTGGCCGTGAGCGGGATACACCTAAGGGCCGCGAAGCACCCTATTCAGATCCTGCCCTCCCTTCCTCATTCTTTGCGAAATACTAAGGGTCCTCCCTGCCACCGCCGGTGTAGACAAAGTCAAACCACTACAGTCAGACCGGAGCCTGGGGTCGGGCCCTCCTTACCTGCGTGCTGCTCTCGGGCCCCGCCCCGCTCCGCCCCGCCCCGGAGGGATCCTCAGGCCGGGCCCAGACCTAGGAGCCACCTGGGGATCCCGGGGTGGCTGCGCGCCGAGGGGGCGCCAGCGGGGACGTGAGCTGGCGCCGAGACAGCCTCGGCCCCCCAGCGCCAGGGCCACTGCCAGGAGACCCCCGGCCAGCACCCACGTGGGGCGCCCCCGGGAGCCCGAGGGGTCCATCGCCTGTCGGGACCCGCTACCTCAAAGCGGCGGGTGCCGCCGAGTCGCTGGAGCTTCCGGACCCCAGGCCCGCCCCGCCGCCGAGCATGCTCAGTGCGAGCCGCCGCCGAAAGTTTTCTGGAACAAACACCCGCATCTGGGGCTTGGCGGGCCAGGAGGTGCCGGACGGGCGTGGGAGGGGGAGAGCGAGTTGGCGCGGCCCAGGCGCCCGGCGGCCAGGCCTGGGTTTGCTTGCGCCCAAACCGAATCAGAGCGGGTCACTCCCCTGCTCCCCGAGGTTACCAGGACCCCAAGGGCCCCTCCGCTACCGCCTACCTGGGTCTGTAAGCCTCAGCTCAGACGCACTTCCCCTGGGAACGGTTTCCTGACACACGGATGTGAATCCAGAGTTTCCCCATCCCCGCTTAGAAAACGGAGAAGCATTTGGAGCGCGGGGCCGGGAGTCCTGGAGCACCCAGAAGGTTCAGGAAAGCTCGGGGAGGAGGGGGTGGCCGCAGAGAAGGAAAAGGACCCTCACTTCCGGTTGCGTTCAGTGCAGACCAGCTGAGCACCCACTGCCCGAGCCTGCTGTGGGTCAGCCCTGGGCCGGCCCGGGTGCCCCTCGCATTCCCAGTGGGAAACAGGCCAGCCGCTGGGCCACCTCTCTGGGGACCTAGAAAGAGGGGAGCTGGTGTCTGAAGTCGCAGCCCTAAGCAAGCTCTCCCTGAACTCTCCGAGGGGACAGGGATTTGCTTTGCCAAGGGACGCAGGAGGAGGAGGAGGAGAAAGACACAAAAAGGGGGACTGGTGGAGCCTTTTGTGTGCTTCCTCATCCCTGCCTAGGTCCTGGGTGACAGCTGACACCTGTTGACGGGGGAGGGCTCCACTCCCGCCAGCCTTCCTGCGGGGCAGGCTGTTAGGCTGTCTATAAAGTCTCAGGCCAGCGAGCCTGGCCCCTGGCAGCCTCTCTCCCCATAACCCAGACCATCCAAGGACAGGCCTTTCCTGACCTAACATGGACAAGGCCATGGGGTTCGAGAAGCTGAGAATTTATAAGCCAAGTTCCCCACACCAGGGGGTACGTGGCAGCTGTCAGGCATGTGACAAGACCACAGGCTAAATGCCAAGCATGTTGCTGGACCGTTGGAGTTGTTTGACAGTCAGTCATTTAAAGGTTAATTTAATAGTCAACAACTTTATGATAAAGTAAAAAGCAAATAACCCTACATTTAAAAAATCTCCTTAGTATTTTTTATGGAGTCAGGGTCTCACTATGTTGCCAAGACTGGTCTTAAACTCCTGGGCTCAGACAATCCTCCACTTGAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAACCACACCTGGCCCAAACACCACATTTTAAAAACTAAAGCCTAAGCATTCATGGAAATGTAAAACAAGAGCGTCAAGTTATTGCCCCCATACATGTCCCCAGGAACCTTGGAGATGCTTCTAAGGTAATATATAAGAAGCTCCACATAGCAGAGAGTTTGCCCTGAAGCCAGACACAGGTGTAAATGAGACAAGAATTCTGCCCCACTCCTTAATTGCAAATGAGTCACCTCTCCTCTCCAGCTGTCAGTTTCTTCATTTATTAAAAAAAGATGAAGAATTTGGATAACAGTTCCCATCTTGCCATGAGGAAATGATGAAACAAACTAGAAACAAGCTGGACATCTAGGCTGAAAGGACAAAGCCCTCCTCTGCTGAAGCAGATCCCCATGGTGTCCCCTAGCCCGGCCCACACAGGGAATTAAGCTCCACAGGGTAGGTGTGTGTGTGTGTGTGCCCCTGAGTGCAAGTGTGCAGTCGTGCATGTGCATGTGTGCTTTACCCAGG | pathogenic | 79,700 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 4, position 5708362, gene EVC2 (EvC ciliary complex subunit 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | ATAGATACATAGATAGATAGATAGATACATAGATAGATAGACACATAGATAGATACATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTGTGCTCTGGGAACAGCCCTTACACCATTGCTCAGAAGAGGAAGCAGAGACCCTGAGGGCTGTGACTTGTCCCAGGCCCCACAAGAGGGAGTGGCCAAGGCAGGGACACACATGGCCAGAGCTCTTTCCTGTACAGTGTGCAGAAGGGCTATGCAAGACAGGCCCAGAGAGACGGAAGAAGGCTGGTCCCATCAACAGCTGGGATGGGCGTGGGCAGGGCCAGGGCCCAGGGGACGTGCTCAAGATGCCAAGGGCACCTGAATACAGGTGCTCATTCCCAGATTCCTGCAAAGGCAGGGGTTGCCCTTGAGGGTGAGGTACTCTACACCCACCATGGTCCTAGATGGCTTCAGGCCCTTCCCAGTAGGCACCGTCCCTCCCTTCTGGCAGGGACCACCCTCAACACCACTGTGGCTGACAGAGGCCAATGTGCACCAGGATTTCTGACACTGGCTTCCCAGAAGGAAGAGCTTGTGCAAAGCAGGTGAGGCCAGGCACGCAGGCTCTGAACTCGGGGGCCAGAGAGAGAGTACAGGACAGGCCTGGGGACGCGGCTCCCTGAGCCTTGGTTTTGTCACCTGCAAAACGGGCCAGATACTCCCATCTCACAGGGCAGATGCAAGTGAAAGGACCCAGGGAACATGTTCTGTCATTGGACTTTTGAAAGCTCAGGACACTGACATGGCGTTTTTCCAGTGAAAACCTAAAGACAGAAAGGGAGCAGGGTCTCTTTTAAGAGACTAAACCTCTGCCAGTGTCGCAAGTGTCCTGGGGTAGAGAACACAGCAGGACACGACCCACCACCCTAGGAGAGAGGTGGGAGGACCTCAGGGCAGCATCAATGGGCCAGACCATTGGCCAGGGCAGTCCTGGGAATAGGAGCCTGGGTGTGCTGTCAGGGGCAATAAGGTGGAGAGAAGAGTGCCAGCATGGGACAGGAGTGGCAGAATGTCTACCAGGACAGACCACCCCAGAGGTCTGGGGGAAAATGGATGGGAGACGTGGGAAAACCATCACCAAGGGCTGGAAGTGAAGTGGTGGGACCTGAAGCCAGGGAGTGGCAGTGGGGAGTGAGGAGGGGCAGACATCCGAGCTGATTTGGAGGAAAAGGCACTAGGACTGGTGACCAGCTTTGTCGGGGGAGGTCAAGTCTAGGGCTACAGCCAGGGATCCATGCCTTTCGAGTTTAGGACCACAGAGGGAGGGCCAGGGTGAAGTAGGAAGTGGCTAAATCCATCAGCCAGGAGAGTTCAGTCACCTAAGAGTCCAGCCAAGAGCCCCCACTTTTAAAAACCGCTGCAATTTCCCAGTGCTGGCCTCTGCAAGGGGCTCTGCATATGTGAGCTCATCTAACCCACTTCCACCCTCTGGGGTGGACGCCGCGACGGCCCCGTTTCAACGATCAGGAAACTGGGGCACAGGAGTGAACTGCCCTAGGTCGAAGCTCGTAAAATGGAGAGCAGGATTCGAACCAGGGTCGCTGGTGAAGTCCAAGCCGGCAGCTGCCACACCCCGAGGAAGGTCTCCAGTTTCCCTCGAAGCTTTCTGGCCGTGAGCGGGATACACCTAAGGGCCGCGAAGCACCCTATTCAGATCCTGCCCTCCCTTCCTCATTCTTTGCGAAATACTAAGGGTCCTCCCTGCCACCGCCGGTGTAGACAAAGTCAAACCACTACAGTCAGACCGGAGCCTGGGGTCGGGCCCTCCTTACCTGCGTGCTGCTCTCGGGCCCCGCCCCGCTCCGCCCCGGAGGGATCCTCAGGCCGGGCCCAGACCTAGGAGCCACCTGGGGATCCCGGGGTGGCTGCGCGCCGAGGGGGCGCCAGCGGGGACGTGAGCTGGCGCCGAGACAGCCTCGGCCCCCCAGCGCCAGGGCCACTGCCAGGAGACCCCCGGCCAGCACCCACGTGGGGCGCCCCCGGGAGCCCGAGGGGTCCATCGCCTGTCGGGACCCGCTACCTCAAAGCGGCGGGTGCCGCCGAGTCGCTGGAGCTTCCGGACCCCAGGCCCGCCCCGCCGCCGAGCATGCTCAGTGCGAGCCGCCGCCGAAAGTTTTCTGGAACAAACACCCGCATCTGGGGCTTGGCGGGCCAGGAGGTGCCGGACGGGCGTGGGAGGGGGAGAGCGAGTTGGCGCGGCCCAGGCGCCCGGCGGCCAGGCCTGGGTTTGCTTGCGCCCAAACCGAATCAGAGCGGGTCACTCCCCTGCTCCCCGAGGTTACCAGGACCCCAAGGGCCCCTCCGCTACCGCCTACCTGGGTCTGTAAGCCTCAGCTCAGACGCACTTCCCCTGGGAACGGTTTCCTGACACACGGATGTGAATCCAGAGTTTCCCCATCCCCGCTTAGAAAACGGAGAAGCATTTGGAGCGCGGGGCCGGGAGTCCTGGAGCACCCAGAAGGTTCAGGAAAGCTCGGGGAGGAGGGGGTGGCCGCAGAGAAGGAAAAGGACCCTCACTTCCGGTTGCGTTCAGTGCAGACCAGCTGAGCACCCACTGCCCGAGCCTGCTGTGGGTCAGCCCTGGGCCGGCCCGGGTGCCCCTCGCATTCCCAGTGGGAAACAGGCCAGCCGCTGGGCCACCTCTCTGGGGACCTAGAAAGAGGGGAGCTGGTGTCTGAAGTCGCAGCCCTAAGCAAGCTCTCCCTGAACTCTCCGAGGGGACAGGGATTTGCTTTGCCAAGGGACGCAGGAGGAGGAGGAGGAGAAAGACACAAAAAGGGGGACTGGTGGAGCCTTTTGTGTGCTTCCTCATCCCTGCCTAGGTCCTGGGTGACAGCTGACACCTGTTGACGGGGGAGGGCTCCACTCCCGCCAGCCTTCCTGCGGGGCAGGCTGTTAGGCTGTCTATAAAGTCTCAGGCCAGCGAGCCTGGCCCCTGGCAGCCTCTCTCCCCATAACCCAGACCATCCAAGGACAGGCCTTTCCTGACCTAACATGGACAAGGCCATGGGGTTCGAGAAGCTGAGAATTTATAAGCCAAGTTCCCCACACCAGGGGGTACGTGGCAGCTGTCAGGCATGTGACAAGACCACAGGCTAAATGCCAAGCATGTTGCTGGACCGTTGGAGTTGTTTGACAGTCAGTCATTTAAAGGTTAATTTAATAGTCAACAACTTTATGATAAAGTAAAAAGCAAATAACCCTACATTTAAAAAATCTCCTTAGTATTTTTTATGGAGTCAGGGTCTCACTATGTTGCCAAGACTGGTCTTAAACTCCTGGGCTCAGACAATCCTCCACTTGAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAACCACACCTGGCCCAAACACCACATTTTAAAAACTAAAGCCTAAGCATTCATGGAAATGTAAAACAAGAGCGTCAAGTTATTGCCCCCATACATGTCCCCAGGAACCTTGGAGATGCTTCTAAGGTAATATATAAGAAGCTCCACATAGCAGAGAGTTTGCCCTGAAGCCAGACACAGGTGTAAATGAGACAAGAATTCTGCCCCACTCCTTAATTGCAAATGAGTCACCTCTCCTCTCCAGCTGTCAGTTTCTTCATTTATTAAAAAAAGATGAAGAATTTGGATAACAGTTCCCATCTTGCCATGAGGAAATGATGAAACAAACTAGAAACAAGCTGGACATCTAGGCTGAAAGGACAAAGCCCTCCTCTGCTGAAGCAGATCCCCATGGTGTCCCCTAGCCCGGCCCACACAGGGAATTAAGCTCCACAGGGTAGGTGTGTGTGTGTGTGTGCCCCTGAGTGCAAGTGTGCAGTCGTGCATGTGCATGTGTGCTTTACCCAGGCACCCAGGACAAAAGCAAACATCTAGTAGCTACCCCATAAATGTTTGTTTAA | ATAGATACATAGATAGATAGATAGATACATAGATAGATAGACACATAGATAGATACATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTGTGCTCTGGGAACAGCCCTTACACCATTGCTCAGAAGAGGAAGCAGAGACCCTGAGGGCTGTGACTTGTCCCAGGCCCCACAAGAGGGAGTGGCCAAGGCAGGGACACACATGGCCAGAGCTCTTTCCTGTACAGTGTGCAGAAGGGCTATGCAAGACAGGCCCAGAGAGACGGAAGAAGGCTGGTCCCATCAACAGCTGGGATGGGCGTGGGCAGGGCCAGGGCCCAGGGGACGTGCTCAAGATGCCAAGGGCACCTGAATACAGGTGCTCATTCCCAGATTCCTGCAAAGGCAGGGGTTGCCCTTGAGGGTGAGGTACTCTACACCCACCATGGTCCTAGATGGCTTCAGGCCCTTCCCAGTAGGCACCGTCCCTCCCTTCTGGCAGGGACCACCCTCAACACCACTGTGGCTGACAGAGGCCAATGTGCACCAGGATTTCTGACACTGGCTTCCCAGAAGGAAGAGCTTGTGCAAAGCAGGTGAGGCCAGGCACGCAGGCTCTGAACTCGGGGGCCAGAGAGAGAGTACAGGACAGGCCTGGGGACGCGGCTCCCTGAGCCTTGGTTTTGTCACCTGCAAAACGGGCCAGATACTCCCATCTCACAGGGCAGATGCAAGTGAAAGGACCCAGGGAACATGTTCTGTCATTGGACTTTTGAAAGCTCAGGACACTGACATGGCGTTTTTCCAGTGAAAACCTAAAGACAGAAAGGGAGCAGGGTCTCTTTTAAGAGACTAAACCTCTGCCAGTGTCGCAAGTGTCCTGGGGTAGAGAACACAGCAGGACACGACCCACCACCCTAGGAGAGAGGTGGGAGGACCTCAGGGCAGCATCAATGGGCCAGACCATTGGCCAGGGCAGTCCTGGGAATAGGAGCCTGGGTGTGCTGTCAGGGGCAATAAGGTGGAGAGAAGAGTGCCAGCATGGGACAGGAGTGGCAGAATGTCTACCAGGACAGACCACCCCAGAGGTCTGGGGGAAAATGGATGGGAGACGTGGGAAAACCATCACCAAGGGCTGGAAGTGAAGTGGTGGGACCTGAAGCCAGGGAGTGGCAGTGGGGAGTGAGGAGGGGCAGACATCCGAGCTGATTTGGAGGAAAAGGCACTAGGACTGGTGACCAGCTTTGTCGGGGGAGGTCAAGTCTAGGGCTACAGCCAGGGATCCATGCCTTTCGAGTTTAGGACCACAGAGGGAGGGCCAGGGTGAAGTAGGAAGTGGCTAAATCCATCAGCCAGGAGAGTTCAGTCACCTAAGAGTCCAGCCAAGAGCCCCCACTTTTAAAAACCGCTGCAATTTCCCAGTGCTGGCCTCTGCAAGGGGCTCTGCATATGTGAGCTCATCTAACCCACTTCCACCCTCTGGGGTGGACGCCGCGACGGCCCCGTTTCAACGATCAGGAAACTGGGGCACAGGAGTGAACTGCCCTAGGTCGAAGCTCGTAAAATGGAGAGCAGGATTCGAACCAGGGTCGCTGGTGAAGTCCAAGCCGGCAGCTGCCACACCCCGAGGAAGGTCTCCAGTTTCCCTCGAAGCTTTCTGGCCGTGAGCGGGATACACCTAAGGGCCGCGAAGCACCCTATTCAGATCCTGCCCTCCCTTCCTCATTCTTTGCGAAATACTAAGGGTCCTCCCTGCCACCGCCGGTGTAGACAAAGTCAAACCACTACAGTCAGACCGGAGCCTGGGGTCGGGCCCTCCTTACCTGCGTGCTGCTCTCGGGCCCCGCCCCGCTCCGCCCCGGAGGGATCCTCAGGCCGGGCCCAGACCTAGGAGCCACCTGGGTGGCTGCGCGCCGAGGGGGCGCCAGCGGGGACGTGAGCTGGCGCCGAGACAGCCTCGGCCCCCCAGCGCCAGGGCCACTGCCAGGAGACCCCCGGCCAGCACCCACGTGGGGCGCCCCCGGGAGCCCGAGGGGTCCATCGCCTGTCGGGACCCGCTACCTCAAAGCGGCGGGTGCCGCCGAGTCGCTGGAGCTTCCGGACCCCAGGCCCGCCCCGCCGCCGAGCATGCTCAGTGCGAGCCGCCGCCGAAAGTTTTCTGGAACAAACACCCGCATCTGGGGCTTGGCGGGCCAGGAGGTGCCGGACGGGCGTGGGAGGGGGAGAGCGAGTTGGCGCGGCCCAGGCGCCCGGCGGCCAGGCCTGGGTTTGCTTGCGCCCAAACCGAATCAGAGCGGGTCACTCCCCTGCTCCCCGAGGTTACCAGGACCCCAAGGGCCCCTCCGCTACCGCCTACCTGGGTCTGTAAGCCTCAGCTCAGACGCACTTCCCCTGGGAACGGTTTCCTGACACACGGATGTGAATCCAGAGTTTCCCCATCCCCGCTTAGAAAACGGAGAAGCATTTGGAGCGCGGGGCCGGGAGTCCTGGAGCACCCAGAAGGTTCAGGAAAGCTCGGGGAGGAGGGGGTGGCCGCAGAGAAGGAAAAGGACCCTCACTTCCGGTTGCGTTCAGTGCAGACCAGCTGAGCACCCACTGCCCGAGCCTGCTGTGGGTCAGCCCTGGGCCGGCCCGGGTGCCCCTCGCATTCCCAGTGGGAAACAGGCCAGCCGCTGGGCCACCTCTCTGGGGACCTAGAAAGAGGGGAGCTGGTGTCTGAAGTCGCAGCCCTAAGCAAGCTCTCCCTGAACTCTCCGAGGGGACAGGGATTTGCTTTGCCAAGGGACGCAGGAGGAGGAGGAGGAGAAAGACACAAAAAGGGGGACTGGTGGAGCCTTTTGTGTGCTTCCTCATCCCTGCCTAGGTCCTGGGTGACAGCTGACACCTGTTGACGGGGGAGGGCTCCACTCCCGCCAGCCTTCCTGCGGGGCAGGCTGTTAGGCTGTCTATAAAGTCTCAGGCCAGCGAGCCTGGCCCCTGGCAGCCTCTCTCCCCATAACCCAGACCATCCAAGGACAGGCCTTTCCTGACCTAACATGGACAAGGCCATGGGGTTCGAGAAGCTGAGAATTTATAAGCCAAGTTCCCCACACCAGGGGGTACGTGGCAGCTGTCAGGCATGTGACAAGACCACAGGCTAAATGCCAAGCATGTTGCTGGACCGTTGGAGTTGTTTGACAGTCAGTCATTTAAAGGTTAATTTAATAGTCAACAACTTTATGATAAAGTAAAAAGCAAATAACCCTACATTTAAAAAATCTCCTTAGTATTTTTTATGGAGTCAGGGTCTCACTATGTTGCCAAGACTGGTCTTAAACTCCTGGGCTCAGACAATCCTCCACTTGAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAACCACACCTGGCCCAAACACCACATTTTAAAAACTAAAGCCTAAGCATTCATGGAAATGTAAAACAAGAGCGTCAAGTTATTGCCCCCATACATGTCCCCAGGAACCTTGGAGATGCTTCTAAGGTAATATATAAGAAGCTCCACATAGCAGAGAGTTTGCCCTGAAGCCAGACACAGGTGTAAATGAGACAAGAATTCTGCCCCACTCCTTAATTGCAAATGAGTCACCTCTCCTCTCCAGCTGTCAGTTTCTTCATTTATTAAAAAAAGATGAAGAATTTGGATAACAGTTCCCATCTTGCCATGAGGAAATGATGAAACAAACTAGAAACAAGCTGGACATCTAGGCTGAAAGGACAAAGCCCTCCTCTGCTGAAGCAGATCCCCATGGTGTCCCCTAGCCCGGCCCACACAGGGAATTAAGCTCCACAGGGTAGGTGTGTGTGTGTGTGTGCCCCTGAGTGCAAGTGTGCAGTCGTGCATGTGCATGTGTGCTTTACCCAGGCACCCAGGACAAAAGCAAACATCTAGTAGCTACCCCATAAATGTTTGTTTAANNNNNNNNNN | pathogenic | 79,701 |
Does the variant on chromosome 4 at location 5708387 affecting gene EVC2 (EvC ciliary complex subunit 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | TACATAGATAGATAGACACATAGATAGATACATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTGTGCTCTGGGAACAGCCCTTACACCATTGCTCAGAAGAGGAAGCAGAGACCCTGAGGGCTGTGACTTGTCCCAGGCCCCACAAGAGGGAGTGGCCAAGGCAGGGACACACATGGCCAGAGCTCTTTCCTGTACAGTGTGCAGAAGGGCTATGCAAGACAGGCCCAGAGAGACGGAAGAAGGCTGGTCCCATCAACAGCTGGGATGGGCGTGGGCAGGGCCAGGGCCCAGGGGACGTGCTCAAGATGCCAAGGGCACCTGAATACAGGTGCTCATTCCCAGATTCCTGCAAAGGCAGGGGTTGCCCTTGAGGGTGAGGTACTCTACACCCACCATGGTCCTAGATGGCTTCAGGCCCTTCCCAGTAGGCACCGTCCCTCCCTTCTGGCAGGGACCACCCTCAACACCACTGTGGCTGACAGAGGCCAATGTGCACCAGGATTTCTGACACTGGCTTCCCAGAAGGAAGAGCTTGTGCAAAGCAGGTGAGGCCAGGCACGCAGGCTCTGAACTCGGGGGCCAGAGAGAGAGTACAGGACAGGCCTGGGGACGCGGCTCCCTGAGCCTTGGTTTTGTCACCTGCAAAACGGGCCAGATACTCCCATCTCACAGGGCAGATGCAAGTGAAAGGACCCAGGGAACATGTTCTGTCATTGGACTTTTGAAAGCTCAGGACACTGACATGGCGTTTTTCCAGTGAAAACCTAAAGACAGAAAGGGAGCAGGGTCTCTTTTAAGAGACTAAACCTCTGCCAGTGTCGCAAGTGTCCTGGGGTAGAGAACACAGCAGGACACGACCCACCACCCTAGGAGAGAGGTGGGAGGACCTCAGGGCAGCATCAATGGGCCAGACCATTGGCCAGGGCAGTCCTGGGAATAGGAGCCTGGGTGTGCTGTCAGGGGCAATAAGGTGGAGAGAAGAGTGCCAGCATGGGACAGGAGTGGCAGAATGTCTACCAGGACAGACCACCCCAGAGGTCTGGGGGAAAATGGATGGGAGACGTGGGAAAACCATCACCAAGGGCTGGAAGTGAAGTGGTGGGACCTGAAGCCAGGGAGTGGCAGTGGGGAGTGAGGAGGGGCAGACATCCGAGCTGATTTGGAGGAAAAGGCACTAGGACTGGTGACCAGCTTTGTCGGGGGAGGTCAAGTCTAGGGCTACAGCCAGGGATCCATGCCTTTCGAGTTTAGGACCACAGAGGGAGGGCCAGGGTGAAGTAGGAAGTGGCTAAATCCATCAGCCAGGAGAGTTCAGTCACCTAAGAGTCCAGCCAAGAGCCCCCACTTTTAAAAACCGCTGCAATTTCCCAGTGCTGGCCTCTGCAAGGGGCTCTGCATATGTGAGCTCATCTAACCCACTTCCACCCTCTGGGGTGGACGCCGCGACGGCCCCGTTTCAACGATCAGGAAACTGGGGCACAGGAGTGAACTGCCCTAGGTCGAAGCTCGTAAAATGGAGAGCAGGATTCGAACCAGGGTCGCTGGTGAAGTCCAAGCCGGCAGCTGCCACACCCCGAGGAAGGTCTCCAGTTTCCCTCGAAGCTTTCTGGCCGTGAGCGGGATACACCTAAGGGCCGCGAAGCACCCTATTCAGATCCTGCCCTCCCTTCCTCATTCTTTGCGAAATACTAAGGGTCCTCCCTGCCACCGCCGGTGTAGACAAAGTCAAACCACTACAGTCAGACCGGAGCCTGGGGTCGGGCCCTCCTTACCTGCGTGCTGCTCTCGGGCCCCGCCCCGCTCCGCCCCGGAGGGATCCTCAGGCCGGGCCCAGACCTAGGAGCCACCTGGGGATCCCGGGGTGGCTGCGCGCCGAGGGGGCGCCAGCGGGGACGTGAGCTGGCGCCGAGACAGCCTCGGCCCCCCAGCGCCAGGGCCACTGCCAGGAGACCCCCGGCCAGCACCCACGTGGGGCGCCCCCGGGAGCCCGAGGGGTCCATCGCCTGTCGGGACCCGCTACCTCAAAGCGGCGGGTGCCGCCGAGTCGCTGGAGCTTCCGGACCCCAGGCCCGCCCCGCCGCCGAGCATGCTCAGTGCGAGCCGCCGCCGAAAGTTTTCTGGAACAAACACCCGCATCTGGGGCTTGGCGGGCCAGGAGGTGCCGGACGGGCGTGGGAGGGGGAGAGCGAGTTGGCGCGGCCCAGGCGCCCGGCGGCCAGGCCTGGGTTTGCTTGCGCCCAAACCGAATCAGAGCGGGTCACTCCCCTGCTCCCCGAGGTTACCAGGACCCCAAGGGCCCCTCCGCTACCGCCTACCTGGGTCTGTAAGCCTCAGCTCAGACGCACTTCCCCTGGGAACGGTTTCCTGACACACGGATGTGAATCCAGAGTTTCCCCATCCCCGCTTAGAAAACGGAGAAGCATTTGGAGCGCGGGGCCGGGAGTCCTGGAGCACCCAGAAGGTTCAGGAAAGCTCGGGGAGGAGGGGGTGGCCGCAGAGAAGGAAAAGGACCCTCACTTCCGGTTGCGTTCAGTGCAGACCAGCTGAGCACCCACTGCCCGAGCCTGCTGTGGGTCAGCCCTGGGCCGGCCCGGGTGCCCCTCGCATTCCCAGTGGGAAACAGGCCAGCCGCTGGGCCACCTCTCTGGGGACCTAGAAAGAGGGGAGCTGGTGTCTGAAGTCGCAGCCCTAAGCAAGCTCTCCCTGAACTCTCCGAGGGGACAGGGATTTGCTTTGCCAAGGGACGCAGGAGGAGGAGGAGGAGAAAGACACAAAAAGGGGGACTGGTGGAGCCTTTTGTGTGCTTCCTCATCCCTGCCTAGGTCCTGGGTGACAGCTGACACCTGTTGACGGGGGAGGGCTCCACTCCCGCCAGCCTTCCTGCGGGGCAGGCTGTTAGGCTGTCTATAAAGTCTCAGGCCAGCGAGCCTGGCCCCTGGCAGCCTCTCTCCCCATAACCCAGACCATCCAAGGACAGGCCTTTCCTGACCTAACATGGACAAGGCCATGGGGTTCGAGAAGCTGAGAATTTATAAGCCAAGTTCCCCACACCAGGGGGTACGTGGCAGCTGTCAGGCATGTGACAAGACCACAGGCTAAATGCCAAGCATGTTGCTGGACCGTTGGAGTTGTTTGACAGTCAGTCATTTAAAGGTTAATTTAATAGTCAACAACTTTATGATAAAGTAAAAAGCAAATAACCCTACATTTAAAAAATCTCCTTAGTATTTTTTATGGAGTCAGGGTCTCACTATGTTGCCAAGACTGGTCTTAAACTCCTGGGCTCAGACAATCCTCCACTTGAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAACCACACCTGGCCCAAACACCACATTTTAAAAACTAAAGCCTAAGCATTCATGGAAATGTAAAACAAGAGCGTCAAGTTATTGCCCCCATACATGTCCCCAGGAACCTTGGAGATGCTTCTAAGGTAATATATAAGAAGCTCCACATAGCAGAGAGTTTGCCCTGAAGCCAGACACAGGTGTAAATGAGACAAGAATTCTGCCCCACTCCTTAATTGCAAATGAGTCACCTCTCCTCTCCAGCTGTCAGTTTCTTCATTTATTAAAAAAAGATGAAGAATTTGGATAACAGTTCCCATCTTGCCATGAGGAAATGATGAAACAAACTAGAAACAAGCTGGACATCTAGGCTGAAAGGACAAAGCCCTCCTCTGCTGAAGCAGATCCCCATGGTGTCCCCTAGCCCGGCCCACACAGGGAATTAAGCTCCACAGGGTAGGTGTGTGTGTGTGTGTGCCCCTGAGTGCAAGTGTGCAGTCGTGCATGTGCATGTGTGCTTTACCCAGGCACCCAGGACAAAAGCAAACATCTAGTAGCTACCCCATAAATGTTTGTTTAAAGCAAACACAGTGATGAACTCCTTT | TACATAGATAGATAGACACATAGATAGATACATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTGTGCTCTGGGAACAGCCCTTACACCATTGCTCAGAAGAGGAAGCAGAGACCCTGAGGGCTGTGACTTGTCCCAGGCCCCACAAGAGGGAGTGGCCAAGGCAGGGACACACATGGCCAGAGCTCTTTCCTGTACAGTGTGCAGAAGGGCTATGCAAGACAGGCCCAGAGAGACGGAAGAAGGCTGGTCCCATCAACAGCTGGGATGGGCGTGGGCAGGGCCAGGGCCCAGGGGACGTGCTCAAGATGCCAAGGGCACCTGAATACAGGTGCTCATTCCCAGATTCCTGCAAAGGCAGGGGTTGCCCTTGAGGGTGAGGTACTCTACACCCACCATGGTCCTAGATGGCTTCAGGCCCTTCCCAGTAGGCACCGTCCCTCCCTTCTGGCAGGGACCACCCTCAACACCACTGTGGCTGACAGAGGCCAATGTGCACCAGGATTTCTGACACTGGCTTCCCAGAAGGAAGAGCTTGTGCAAAGCAGGTGAGGCCAGGCACGCAGGCTCTGAACTCGGGGGCCAGAGAGAGAGTACAGGACAGGCCTGGGGACGCGGCTCCCTGAGCCTTGGTTTTGTCACCTGCAAAACGGGCCAGATACTCCCATCTCACAGGGCAGATGCAAGTGAAAGGACCCAGGGAACATGTTCTGTCATTGGACTTTTGAAAGCTCAGGACACTGACATGGCGTTTTTCCAGTGAAAACCTAAAGACAGAAAGGGAGCAGGGTCTCTTTTAAGAGACTAAACCTCTGCCAGTGTCGCAAGTGTCCTGGGGTAGAGAACACAGCAGGACACGACCCACCACCCTAGGAGAGAGGTGGGAGGACCTCAGGGCAGCATCAATGGGCCAGACCATTGGCCAGGGCAGTCCTGGGAATAGGAGCCTGGGTGTGCTGTCAGGGGCAATAAGGTGGAGAGAAGAGTGCCAGCATGGGACAGGAGTGGCAGAATGTCTACCAGGACAGACCACCCCAGAGGTCTGGGGGAAAATGGATGGGAGACGTGGGAAAACCATCACCAAGGGCTGGAAGTGAAGTGGTGGGACCTGAAGCCAGGGAGTGGCAGTGGGGAGTGAGGAGGGGCAGACATCCGAGCTGATTTGGAGGAAAAGGCACTAGGACTGGTGACCAGCTTTGTCGGGGGAGGTCAAGTCTAGGGCTACAGCCAGGGATCCATGCCTTTCGAGTTTAGGACCACAGAGGGAGGGCCAGGGTGAAGTAGGAAGTGGCTAAATCCATCAGCCAGGAGAGTTCAGTCACCTAAGAGTCCAGCCAAGAGCCCCCACTTTTAAAAACCGCTGCAATTTCCCAGTGCTGGCCTCTGCAAGGGGCTCTGCATATGTGAGCTCATCTAACCCACTTCCACCCTCTGGGGTGGACGCCGCGACGGCCCCGTTTCAACGATCAGGAAACTGGGGCACAGGAGTGAACTGCCCTAGGTCGAAGCTCGTAAAATGGAGAGCAGGATTCGAACCAGGGTCGCTGGTGAAGTCCAAGCCGGCAGCTGCCACACCCCGAGGAAGGTCTCCAGTTTCCCTCGAAGCTTTCTGGCCGTGAGCGGGATACACCTAAGGGCCGCGAAGCACCCTATTCAGATCCTGCCCTCCCTTCCTCATTCTTTGCGAAATACTAAGGGTCCTCCCTGCCACCGCCGGTGTAGACAAAGTCAAACCACTACAGTCAGACCGGAGCCTGGGGTCGGGCCCTCCTTACCTGCGTGCTGCTCTCGGGCCCCGCCCCGCTCCGCCCCGGAGGGATCCTCAGGCCGGGCCCAGACCTAGGAGCCACCTGGGGATCCCGGGGTGGCTGCGCGCCGAGGGGGCGCCAGCGGGGACGTGAGGGGGCGCCAGCGGGGACGTGAGCTGGCGCCGAGACAGCCTCGGCCCCCCAGCGCCAGGGCCACTGCCAGGAGACCCCCGGCCAGCACCCACGTGGGGCGCCCCCGGGAGCCCGAGGGGTCCATCGCCTGTCGGGACCCGCTACCTCAAAGCGGCGGGTGCCGCCGAGTCGCTGGAGCTTCCGGACCCCAGGCCCGCCCCGCCGCCGAGCATGCTCAGTGCGAGCCGCCGCCGAAAGTTTTCTGGAACAAACACCCGCATCTGGGGCTTGGCGGGCCAGGAGGTGCCGGACGGGCGTGGGAGGGGGAGAGCGAGTTGGCGCGGCCCAGGCGCCCGGCGGCCAGGCCTGGGTTTGCTTGCGCCCAAACCGAATCAGAGCGGGTCACTCCCCTGCTCCCCGAGGTTACCAGGACCCCAAGGGCCCCTCCGCTACCGCCTACCTGGGTCTGTAAGCCTCAGCTCAGACGCACTTCCCCTGGGAACGGTTTCCTGACACACGGATGTGAATCCAGAGTTTCCCCATCCCCGCTTAGAAAACGGAGAAGCATTTGGAGCGCGGGGCCGGGAGTCCTGGAGCACCCAGAAGGTTCAGGAAAGCTCGGGGAGGAGGGGGTGGCCGCAGAGAAGGAAAAGGACCCTCACTTCCGGTTGCGTTCAGTGCAGACCAGCTGAGCACCCACTGCCCGAGCCTGCTGTGGGTCAGCCCTGGGCCGGCCCGGGTGCCCCTCGCATTCCCAGTGGGAAACAGGCCAGCCGCTGGGCCACCTCTCTGGGGACCTAGAAAGAGGGGAGCTGGTGTCTGAAGTCGCAGCCCTAAGCAAGCTCTCCCTGAACTCTCCGAGGGGACAGGGATTTGCTTTGCCAAGGGACGCAGGAGGAGGAGGAGGAGAAAGACACAAAAAGGGGGACTGGTGGAGCCTTTTGTGTGCTTCCTCATCCCTGCCTAGGTCCTGGGTGACAGCTGACACCTGTTGACGGGGGAGGGCTCCACTCCCGCCAGCCTTCCTGCGGGGCAGGCTGTTAGGCTGTCTATAAAGTCTCAGGCCAGCGAGCCTGGCCCCTGGCAGCCTCTCTCCCCATAACCCAGACCATCCAAGGACAGGCCTTTCCTGACCTAACATGGACAAGGCCATGGGGTTCGAGAAGCTGAGAATTTATAAGCCAAGTTCCCCACACCAGGGGGTACGTGGCAGCTGTCAGGCATGTGACAAGACCACAGGCTAAATGCCAAGCATGTTGCTGGACCGTTGGAGTTGTTTGACAGTCAGTCATTTAAAGGTTAATTTAATAGTCAACAACTTTATGATAAAGTAAAAAGCAAATAACCCTACATTTAAAAAATCTCCTTAGTATTTTTTATGGAGTCAGGGTCTCACTATGTTGCCAAGACTGGTCTTAAACTCCTGGGCTCAGACAATCCTCCACTTGAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAACCACACCTGGCCCAAACACCACATTTTAAAAACTAAAGCCTAAGCATTCATGGAAATGTAAAACAAGAGCGTCAAGTTATTGCCCCCATACATGTCCCCAGGAACCTTGGAGATGCTTCTAAGGTAATATATAAGAAGCTCCACATAGCAGAGAGTTTGCCCTGAAGCCAGACACAGGTGTAAATGAGACAAGAATTCTGCCCCACTCCTTAATTGCAAATGAGTCACCTCTCCTCTCCAGCTGTCAGTTTCTTCATTTATTAAAAAAAGATGAAGAATTTGGATAACAGTTCCCATCTTGCCATGAGGAAATGATGAAACAAACTAGAAACAAGCTGGACATCTAGGCTGAAAGGACAAAGCCCTCCTCTGCTGAAGCAGATCCCCATGGTGTCCCCTAGCCCGGCCCACACAGGGAATTAAGCTCCACAGGGTAGGTGTGTGTGTGTGTGTGCCCCTGAGTGCAAGTGTGCAGTCGTGCATGTGCATGTGTGCTTTACCCAGGCACCCAGGACAAAAGCAAACATCTAGTAGCTACCCCATAAATGTTTGTTTAAAGC | pathogenic | 79,703 |
Gene mutation in EVC2 (EvC ciliary complex subunit 2) at chromosome 4, position 5708451—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | TAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTGTGCTCTGGGAACAGCCCTTACACCATTGCTCAGAAGAGGAAGCAGAGACCCTGAGGGCTGTGACTTGTCCCAGGCCCCACAAGAGGGAGTGGCCAAGGCAGGGACACACATGGCCAGAGCTCTTTCCTGTACAGTGTGCAGAAGGGCTATGCAAGACAGGCCCAGAGAGACGGAAGAAGGCTGGTCCCATCAACAGCTGGGATGGGCGTGGGCAGGGCCAGGGCCCAGGGGACGTGCTCAAGATGCCAAGGGCACCTGAATACAGGTGCTCATTCCCAGATTCCTGCAAAGGCAGGGGTTGCCCTTGAGGGTGAGGTACTCTACACCCACCATGGTCCTAGATGGCTTCAGGCCCTTCCCAGTAGGCACCGTCCCTCCCTTCTGGCAGGGACCACCCTCAACACCACTGTGGCTGACAGAGGCCAATGTGCACCAGGATTTCTGACACTGGCTTCCCAGAAGGAAGAGCTTGTGCAAAGCAGGTGAGGCCAGGCACGCAGGCTCTGAACTCGGGGGCCAGAGAGAGAGTACAGGACAGGCCTGGGGACGCGGCTCCCTGAGCCTTGGTTTTGTCACCTGCAAAACGGGCCAGATACTCCCATCTCACAGGGCAGATGCAAGTGAAAGGACCCAGGGAACATGTTCTGTCATTGGACTTTTGAAAGCTCAGGACACTGACATGGCGTTTTTCCAGTGAAAACCTAAAGACAGAAAGGGAGCAGGGTCTCTTTTAAGAGACTAAACCTCTGCCAGTGTCGCAAGTGTCCTGGGGTAGAGAACACAGCAGGACACGACCCACCACCCTAGGAGAGAGGTGGGAGGACCTCAGGGCAGCATCAATGGGCCAGACCATTGGCCAGGGCAGTCCTGGGAATAGGAGCCTGGGTGTGCTGTCAGGGGCAATAAGGTGGAGAGAAGAGTGCCAGCATGGGACAGGAGTGGCAGAATGTCTACCAGGACAGACCACCCCAGAGGTCTGGGGGAAAATGGATGGGAGACGTGGGAAAACCATCACCAAGGGCTGGAAGTGAAGTGGTGGGACCTGAAGCCAGGGAGTGGCAGTGGGGAGTGAGGAGGGGCAGACATCCGAGCTGATTTGGAGGAAAAGGCACTAGGACTGGTGACCAGCTTTGTCGGGGGAGGTCAAGTCTAGGGCTACAGCCAGGGATCCATGCCTTTCGAGTTTAGGACCACAGAGGGAGGGCCAGGGTGAAGTAGGAAGTGGCTAAATCCATCAGCCAGGAGAGTTCAGTCACCTAAGAGTCCAGCCAAGAGCCCCCACTTTTAAAAACCGCTGCAATTTCCCAGTGCTGGCCTCTGCAAGGGGCTCTGCATATGTGAGCTCATCTAACCCACTTCCACCCTCTGGGGTGGACGCCGCGACGGCCCCGTTTCAACGATCAGGAAACTGGGGCACAGGAGTGAACTGCCCTAGGTCGAAGCTCGTAAAATGGAGAGCAGGATTCGAACCAGGGTCGCTGGTGAAGTCCAAGCCGGCAGCTGCCACACCCCGAGGAAGGTCTCCAGTTTCCCTCGAAGCTTTCTGGCCGTGAGCGGGATACACCTAAGGGCCGCGAAGCACCCTATTCAGATCCTGCCCTCCCTTCCTCATTCTTTGCGAAATACTAAGGGTCCTCCCTGCCACCGCCGGTGTAGACAAAGTCAAACCACTACAGTCAGACCGGAGCCTGGGGTCGGGCCCTCCTTACCTGCGTGCTGCTCTCGGGCCCCGCCCCGCTCCGCCCCGGAGGGATCCTCAGGCCGGGCCCAGACCTAGGAGCCACCTGGGGATCCCGGGGTGGCTGCGCGCCGAGGGGGCGCCAGCGGGGACGTGAGCTGGCGCCGAGACAGCCTCGGCCCCCCAGCGCCAGGGCCACTGCCAGGAGACCCCCGGCCAGCACCCACGTGGGGCGCCCCCGGGAGCCCGAGGGGTCCATCGCCTGTCGGGACCCGCTACCTCAAAGCGGCGGGTGCCGCCGAGTCGCTGGAGCTTCCGGACCCCAGGCCCGCCCCGCCGCCGAGCATGCTCAGTGCGAGCCGCCGCCGAAAGTTTTCTGGAACAAACACCCGCATCTGGGGCTTGGCGGGCCAGGAGGTGCCGGACGGGCGTGGGAGGGGGAGAGCGAGTTGGCGCGGCCCAGGCGCCCGGCGGCCAGGCCTGGGTTTGCTTGCGCCCAAACCGAATCAGAGCGGGTCACTCCCCTGCTCCCCGAGGTTACCAGGACCCCAAGGGCCCCTCCGCTACCGCCTACCTGGGTCTGTAAGCCTCAGCTCAGACGCACTTCCCCTGGGAACGGTTTCCTGACACACGGATGTGAATCCAGAGTTTCCCCATCCCCGCTTAGAAAACGGAGAAGCATTTGGAGCGCGGGGCCGGGAGTCCTGGAGCACCCAGAAGGTTCAGGAAAGCTCGGGGAGGAGGGGGTGGCCGCAGAGAAGGAAAAGGACCCTCACTTCCGGTTGCGTTCAGTGCAGACCAGCTGAGCACCCACTGCCCGAGCCTGCTGTGGGTCAGCCCTGGGCCGGCCCGGGTGCCCCTCGCATTCCCAGTGGGAAACAGGCCAGCCGCTGGGCCACCTCTCTGGGGACCTAGAAAGAGGGGAGCTGGTGTCTGAAGTCGCAGCCCTAAGCAAGCTCTCCCTGAACTCTCCGAGGGGACAGGGATTTGCTTTGCCAAGGGACGCAGGAGGAGGAGGAGGAGAAAGACACAAAAAGGGGGACTGGTGGAGCCTTTTGTGTGCTTCCTCATCCCTGCCTAGGTCCTGGGTGACAGCTGACACCTGTTGACGGGGGAGGGCTCCACTCCCGCCAGCCTTCCTGCGGGGCAGGCTGTTAGGCTGTCTATAAAGTCTCAGGCCAGCGAGCCTGGCCCCTGGCAGCCTCTCTCCCCATAACCCAGACCATCCAAGGACAGGCCTTTCCTGACCTAACATGGACAAGGCCATGGGGTTCGAGAAGCTGAGAATTTATAAGCCAAGTTCCCCACACCAGGGGGTACGTGGCAGCTGTCAGGCATGTGACAAGACCACAGGCTAAATGCCAAGCATGTTGCTGGACCGTTGGAGTTGTTTGACAGTCAGTCATTTAAAGGTTAATTTAATAGTCAACAACTTTATGATAAAGTAAAAAGCAAATAACCCTACATTTAAAAAATCTCCTTAGTATTTTTTATGGAGTCAGGGTCTCACTATGTTGCCAAGACTGGTCTTAAACTCCTGGGCTCAGACAATCCTCCACTTGAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAACCACACCTGGCCCAAACACCACATTTTAAAAACTAAAGCCTAAGCATTCATGGAAATGTAAAACAAGAGCGTCAAGTTATTGCCCCCATACATGTCCCCAGGAACCTTGGAGATGCTTCTAAGGTAATATATAAGAAGCTCCACATAGCAGAGAGTTTGCCCTGAAGCCAGACACAGGTGTAAATGAGACAAGAATTCTGCCCCACTCCTTAATTGCAAATGAGTCACCTCTCCTCTCCAGCTGTCAGTTTCTTCATTTATTAAAAAAAGATGAAGAATTTGGATAACAGTTCCCATCTTGCCATGAGGAAATGATGAAACAAACTAGAAACAAGCTGGACATCTAGGCTGAAAGGACAAAGCCCTCCTCTGCTGAAGCAGATCCCCATGGTGTCCCCTAGCCCGGCCCACACAGGGAATTAAGCTCCACAGGGTAGGTGTGTGTGTGTGTGTGCCCCTGAGTGCAAGTGTGCAGTCGTGCATGTGCATGTGTGCTTTACCCAGGCACCCAGGACAAAAGCAAACATCTAGTAGCTACCCCATAAATGTTTGTTTAAAGCAAACACAGTGATGAACTCCTTTAATTTTTTATCACTCTAAACAACTGTGAGATACTCACTAGCCTGGACACTGCCTGGTTTGTGGC | TAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTGTGCTCTGGGAACAGCCCTTACACCATTGCTCAGAAGAGGAAGCAGAGACCCTGAGGGCTGTGACTTGTCCCAGGCCCCACAAGAGGGAGTGGCCAAGGCAGGGACACACATGGCCAGAGCTCTTTCCTGTACAGTGTGCAGAAGGGCTATGCAAGACAGGCCCAGAGAGACGGAAGAAGGCTGGTCCCATCAACAGCTGGGATGGGCGTGGGCAGGGCCAGGGCCCAGGGGACGTGCTCAAGATGCCAAGGGCACCTGAATACAGGTGCTCATTCCCAGATTCCTGCAAAGGCAGGGGTTGCCCTTGAGGGTGAGGTACTCTACACCCACCATGGTCCTAGATGGCTTCAGGCCCTTCCCAGTAGGCACCGTCCCTCCCTTCTGGCAGGGACCACCCTCAACACCACTGTGGCTGACAGAGGCCAATGTGCACCAGGATTTCTGACACTGGCTTCCCAGAAGGAAGAGCTTGTGCAAAGCAGGTGAGGCCAGGCACGCAGGCTCTGAACTCGGGGGCCAGAGAGAGAGTACAGGACAGGCCTGGGGACGCGGCTCCCTGAGCCTTGGTTTTGTCACCTGCAAAACGGGCCAGATACTCCCATCTCACAGGGCAGATGCAAGTGAAAGGACCCAGGGAACATGTTCTGTCATTGGACTTTTGAAAGCTCAGGACACTGACATGGCGTTTTTCCAGTGAAAACCTAAAGACAGAAAGGGAGCAGGGTCTCTTTTAAGAGACTAAACCTCTGCCAGTGTCGCAAGTGTCCTGGGGTAGAGAACACAGCAGGACACGACCCACCACCCTAGGAGAGAGGTGGGAGGACCTCAGGGCAGCATCAATGGGCCAGACCATTGGCCAGGGCAGTCCTGGGAATAGGAGCCTGGGTGTGCTGTCAGGGGCAATAAGGTGGAGAGAAGAGTGCCAGCATGGGACAGGAGTGGCAGAATGTCTACCAGGACAGACCACCCCAGAGGTCTGGGGGAAAATGGATGGGAGACGTGGGAAAACCATCACCAAGGGCTGGAAGTGAAGTGGTGGGACCTGAAGCCAGGGAGTGGCAGTGGGGAGTGAGGAGGGGCAGACATCCGAGCTGATTTGGAGGAAAAGGCACTAGGACTGGTGACCAGCTTTGTCGGGGGAGGTCAAGTCTAGGGCTACAGCCAGGGATCCATGCCTTTCGAGTTTAGGACCACAGAGGGAGGGCCAGGGTGAAGTAGGAAGTGGCTAAATCCATCAGCCAGGAGAGTTCAGTCACCTAAGAGTCCAGCCAAGAGCCCCCACTTTTAAAAACCGCTGCAATTTCCCAGTGCTGGCCTCTGCAAGGGGCTCTGCATATGTGAGCTCATCTAACCCACTTCCACCCTCTGGGGTGGACGCCGCGACGGCCCCGTTTCAACGATCAGGAAACTGGGGCACAGGAGTGAACTGCCCTAGGTCGAAGCTCGTAAAATGGAGAGCAGGATTCGAACCAGGGTCGCTGGTGAAGTCCAAGCCGGCAGCTGCCACACCCCGAGGAAGGTCTCCAGTTTCCCTCGAAGCTTTCTGGCCGTGAGCGGGATACACCTAAGGGCCGCGAAGCACCCTATTCAGATCCTGCCCTCCCTTCCTCATTCTTTGCGAAATACTAAGGGTCCTCCCTGCCACCGCCGGTGTAGACAAAGTCAAACCACTACAGTCAGACCGGAGCCTGGGGTCGGGCCCTCCTTACCTGCGTGCTGCTCTCGGGCCCCGCCCCGCTCCGCCCCGGAGGGATCCTCAGGCCGGGCCCAGACCTAGGAGCCACCTGGGGATCCCGGGGTGGCTGCGCGCCGAGGGGGCGCCAGCGGGGACGTGAGCTGGCGCCGAGACAGCCTCGGCCCCCCAGCGCCAGGGCCAACTGCCAGGAGACCCCCGGCCAGCACCCACGTGGGGCGCCCCCGGGAGCCCGAGGGGTCCATCGCCTGTCGGGACCCGCTACCTCAAAGCGGCGGGTGCCGCCGAGTCGCTGGAGCTTCCGGACCCCAGGCCCGCCCCGCCGCCGAGCATGCTCAGTGCGAGCCGCCGCCGAAAGTTTTCTGGAACAAACACCCGCATCTGGGGCTTGGCGGGCCAGGAGGTGCCGGACGGGCGTGGGAGGGGGAGAGCGAGTTGGCGCGGCCCAGGCGCCCGGCGGCCAGGCCTGGGTTTGCTTGCGCCCAAACCGAATCAGAGCGGGTCACTCCCCTGCTCCCCGAGGTTACCAGGACCCCAAGGGCCCCTCCGCTACCGCCTACCTGGGTCTGTAAGCCTCAGCTCAGACGCACTTCCCCTGGGAACGGTTTCCTGACACACGGATGTGAATCCAGAGTTTCCCCATCCCCGCTTAGAAAACGGAGAAGCATTTGGAGCGCGGGGCCGGGAGTCCTGGAGCACCCAGAAGGTTCAGGAAAGCTCGGGGAGGAGGGGGTGGCCGCAGAGAAGGAAAAGGACCCTCACTTCCGGTTGCGTTCAGTGCAGACCAGCTGAGCACCCACTGCCCGAGCCTGCTGTGGGTCAGCCCTGGGCCGGCCCGGGTGCCCCTCGCATTCCCAGTGGGAAACAGGCCAGCCGCTGGGCCACCTCTCTGGGGACCTAGAAAGAGGGGAGCTGGTGTCTGAAGTCGCAGCCCTAAGCAAGCTCTCCCTGAACTCTCCGAGGGGACAGGGATTTGCTTTGCCAAGGGACGCAGGAGGAGGAGGAGGAGAAAGACACAAAAAGGGGGACTGGTGGAGCCTTTTGTGTGCTTCCTCATCCCTGCCTAGGTCCTGGGTGACAGCTGACACCTGTTGACGGGGGAGGGCTCCACTCCCGCCAGCCTTCCTGCGGGGCAGGCTGTTAGGCTGTCTATAAAGTCTCAGGCCAGCGAGCCTGGCCCCTGGCAGCCTCTCTCCCCATAACCCAGACCATCCAAGGACAGGCCTTTCCTGACCTAACATGGACAAGGCCATGGGGTTCGAGAAGCTGAGAATTTATAAGCCAAGTTCCCCACACCAGGGGGTACGTGGCAGCTGTCAGGCATGTGACAAGACCACAGGCTAAATGCCAAGCATGTTGCTGGACCGTTGGAGTTGTTTGACAGTCAGTCATTTAAAGGTTAATTTAATAGTCAACAACTTTATGATAAAGTAAAAAGCAAATAACCCTACATTTAAAAAATCTCCTTAGTATTTTTTATGGAGTCAGGGTCTCACTATGTTGCCAAGACTGGTCTTAAACTCCTGGGCTCAGACAATCCTCCACTTGAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAACCACACCTGGCCCAAACACCACATTTTAAAAACTAAAGCCTAAGCATTCATGGAAATGTAAAACAAGAGCGTCAAGTTATTGCCCCCATACATGTCCCCAGGAACCTTGGAGATGCTTCTAAGGTAATATATAAGAAGCTCCACATAGCAGAGAGTTTGCCCTGAAGCCAGACACAGGTGTAAATGAGACAAGAATTCTGCCCCACTCCTTAATTGCAAATGAGTCACCTCTCCTCTCCAGCTGTCAGTTTCTTCATTTATTAAAAAAAGATGAAGAATTTGGATAACAGTTCCCATCTTGCCATGAGGAAATGATGAAACAAACTAGAAACAAGCTGGACATCTAGGCTGAAAGGACAAAGCCCTCCTCTGCTGAAGCAGATCCCCATGGTGTCCCCTAGCCCGGCCCACACAGGGAATTAAGCTCCACAGGGTAGGTGTGTGTGTGTGTGTGCCCCTGAGTGCAAGTGTGCAGTCGTGCATGTGCATGTGTGCTTTACCCAGGCACCCAGGACAAAAGCAAACATCTAGTAGCTACCCCATAAATGTTTGTTTAAAGCAAACACAGTGATGAACTCCTTTAATTTTTTATCACTCTAAACAACTGTGAGATACTCACTAGCCTGGACACTGCCTGGTTTGTGG | pathogenic | 79,705 |
Regarding the variant found on chromosome 4 at position 5708463 in gene EVC2 (EvC ciliary complex subunit 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | TAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTGTGCTCTGGGAACAGCCCTTACACCATTGCTCAGAAGAGGAAGCAGAGACCCTGAGGGCTGTGACTTGTCCCAGGCCCCACAAGAGGGAGTGGCCAAGGCAGGGACACACATGGCCAGAGCTCTTTCCTGTACAGTGTGCAGAAGGGCTATGCAAGACAGGCCCAGAGAGACGGAAGAAGGCTGGTCCCATCAACAGCTGGGATGGGCGTGGGCAGGGCCAGGGCCCAGGGGACGTGCTCAAGATGCCAAGGGCACCTGAATACAGGTGCTCATTCCCAGATTCCTGCAAAGGCAGGGGTTGCCCTTGAGGGTGAGGTACTCTACACCCACCATGGTCCTAGATGGCTTCAGGCCCTTCCCAGTAGGCACCGTCCCTCCCTTCTGGCAGGGACCACCCTCAACACCACTGTGGCTGACAGAGGCCAATGTGCACCAGGATTTCTGACACTGGCTTCCCAGAAGGAAGAGCTTGTGCAAAGCAGGTGAGGCCAGGCACGCAGGCTCTGAACTCGGGGGCCAGAGAGAGAGTACAGGACAGGCCTGGGGACGCGGCTCCCTGAGCCTTGGTTTTGTCACCTGCAAAACGGGCCAGATACTCCCATCTCACAGGGCAGATGCAAGTGAAAGGACCCAGGGAACATGTTCTGTCATTGGACTTTTGAAAGCTCAGGACACTGACATGGCGTTTTTCCAGTGAAAACCTAAAGACAGAAAGGGAGCAGGGTCTCTTTTAAGAGACTAAACCTCTGCCAGTGTCGCAAGTGTCCTGGGGTAGAGAACACAGCAGGACACGACCCACCACCCTAGGAGAGAGGTGGGAGGACCTCAGGGCAGCATCAATGGGCCAGACCATTGGCCAGGGCAGTCCTGGGAATAGGAGCCTGGGTGTGCTGTCAGGGGCAATAAGGTGGAGAGAAGAGTGCCAGCATGGGACAGGAGTGGCAGAATGTCTACCAGGACAGACCACCCCAGAGGTCTGGGGGAAAATGGATGGGAGACGTGGGAAAACCATCACCAAGGGCTGGAAGTGAAGTGGTGGGACCTGAAGCCAGGGAGTGGCAGTGGGGAGTGAGGAGGGGCAGACATCCGAGCTGATTTGGAGGAAAAGGCACTAGGACTGGTGACCAGCTTTGTCGGGGGAGGTCAAGTCTAGGGCTACAGCCAGGGATCCATGCCTTTCGAGTTTAGGACCACAGAGGGAGGGCCAGGGTGAAGTAGGAAGTGGCTAAATCCATCAGCCAGGAGAGTTCAGTCACCTAAGAGTCCAGCCAAGAGCCCCCACTTTTAAAAACCGCTGCAATTTCCCAGTGCTGGCCTCTGCAAGGGGCTCTGCATATGTGAGCTCATCTAACCCACTTCCACCCTCTGGGGTGGACGCCGCGACGGCCCCGTTTCAACGATCAGGAAACTGGGGCACAGGAGTGAACTGCCCTAGGTCGAAGCTCGTAAAATGGAGAGCAGGATTCGAACCAGGGTCGCTGGTGAAGTCCAAGCCGGCAGCTGCCACACCCCGAGGAAGGTCTCCAGTTTCCCTCGAAGCTTTCTGGCCGTGAGCGGGATACACCTAAGGGCCGCGAAGCACCCTATTCAGATCCTGCCCTCCCTTCCTCATTCTTTGCGAAATACTAAGGGTCCTCCCTGCCACCGCCGGTGTAGACAAAGTCAAACCACTACAGTCAGACCGGAGCCTGGGGTCGGGCCCTCCTTACCTGCGTGCTGCTCTCGGGCCCCGCCCCGCTCCGCCCCGGAGGGATCCTCAGGCCGGGCCCAGACCTAGGAGCCACCTGGGGATCCCGGGGTGGCTGCGCGCCGAGGGGGCGCCAGCGGGGACGTGAGCTGGCGCCGAGACAGCCTCGGCCCCCCAGCGCCAGGGCCACTGCCAGGAGACCCCCGGCCAGCACCCACGTGGGGCGCCCCCGGGAGCCCGAGGGGTCCATCGCCTGTCGGGACCCGCTACCTCAAAGCGGCGGGTGCCGCCGAGTCGCTGGAGCTTCCGGACCCCAGGCCCGCCCCGCCGCCGAGCATGCTCAGTGCGAGCCGCCGCCGAAAGTTTTCTGGAACAAACACCCGCATCTGGGGCTTGGCGGGCCAGGAGGTGCCGGACGGGCGTGGGAGGGGGAGAGCGAGTTGGCGCGGCCCAGGCGCCCGGCGGCCAGGCCTGGGTTTGCTTGCGCCCAAACCGAATCAGAGCGGGTCACTCCCCTGCTCCCCGAGGTTACCAGGACCCCAAGGGCCCCTCCGCTACCGCCTACCTGGGTCTGTAAGCCTCAGCTCAGACGCACTTCCCCTGGGAACGGTTTCCTGACACACGGATGTGAATCCAGAGTTTCCCCATCCCCGCTTAGAAAACGGAGAAGCATTTGGAGCGCGGGGCCGGGAGTCCTGGAGCACCCAGAAGGTTCAGGAAAGCTCGGGGAGGAGGGGGTGGCCGCAGAGAAGGAAAAGGACCCTCACTTCCGGTTGCGTTCAGTGCAGACCAGCTGAGCACCCACTGCCCGAGCCTGCTGTGGGTCAGCCCTGGGCCGGCCCGGGTGCCCCTCGCATTCCCAGTGGGAAACAGGCCAGCCGCTGGGCCACCTCTCTGGGGACCTAGAAAGAGGGGAGCTGGTGTCTGAAGTCGCAGCCCTAAGCAAGCTCTCCCTGAACTCTCCGAGGGGACAGGGATTTGCTTTGCCAAGGGACGCAGGAGGAGGAGGAGGAGAAAGACACAAAAAGGGGGACTGGTGGAGCCTTTTGTGTGCTTCCTCATCCCTGCCTAGGTCCTGGGTGACAGCTGACACCTGTTGACGGGGGAGGGCTCCACTCCCGCCAGCCTTCCTGCGGGGCAGGCTGTTAGGCTGTCTATAAAGTCTCAGGCCAGCGAGCCTGGCCCCTGGCAGCCTCTCTCCCCATAACCCAGACCATCCAAGGACAGGCCTTTCCTGACCTAACATGGACAAGGCCATGGGGTTCGAGAAGCTGAGAATTTATAAGCCAAGTTCCCCACACCAGGGGGTACGTGGCAGCTGTCAGGCATGTGACAAGACCACAGGCTAAATGCCAAGCATGTTGCTGGACCGTTGGAGTTGTTTGACAGTCAGTCATTTAAAGGTTAATTTAATAGTCAACAACTTTATGATAAAGTAAAAAGCAAATAACCCTACATTTAAAAAATCTCCTTAGTATTTTTTATGGAGTCAGGGTCTCACTATGTTGCCAAGACTGGTCTTAAACTCCTGGGCTCAGACAATCCTCCACTTGAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAACCACACCTGGCCCAAACACCACATTTTAAAAACTAAAGCCTAAGCATTCATGGAAATGTAAAACAAGAGCGTCAAGTTATTGCCCCCATACATGTCCCCAGGAACCTTGGAGATGCTTCTAAGGTAATATATAAGAAGCTCCACATAGCAGAGAGTTTGCCCTGAAGCCAGACACAGGTGTAAATGAGACAAGAATTCTGCCCCACTCCTTAATTGCAAATGAGTCACCTCTCCTCTCCAGCTGTCAGTTTCTTCATTTATTAAAAAAAGATGAAGAATTTGGATAACAGTTCCCATCTTGCCATGAGGAAATGATGAAACAAACTAGAAACAAGCTGGACATCTAGGCTGAAAGGACAAAGCCCTCCTCTGCTGAAGCAGATCCCCATGGTGTCCCCTAGCCCGGCCCACACAGGGAATTAAGCTCCACAGGGTAGGTGTGTGTGTGTGTGTGCCCCTGAGTGCAAGTGTGCAGTCGTGCATGTGCATGTGTGCTTTACCCAGGCACCCAGGACAAAAGCAAACATCTAGTAGCTACCCCATAAATGTTTGTTTAAAGCAAACACAGTGATGAACTCCTTTAATTTTTTATCACTCTAAACAACTGTGAGATACTCACTAGCCTGGACACTGCCTGGTTTGTGGCTGGCCTATCCCC | TAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTGTGCTCTGGGAACAGCCCTTACACCATTGCTCAGAAGAGGAAGCAGAGACCCTGAGGGCTGTGACTTGTCCCAGGCCCCACAAGAGGGAGTGGCCAAGGCAGGGACACACATGGCCAGAGCTCTTTCCTGTACAGTGTGCAGAAGGGCTATGCAAGACAGGCCCAGAGAGACGGAAGAAGGCTGGTCCCATCAACAGCTGGGATGGGCGTGGGCAGGGCCAGGGCCCAGGGGACGTGCTCAAGATGCCAAGGGCACCTGAATACAGGTGCTCATTCCCAGATTCCTGCAAAGGCAGGGGTTGCCCTTGAGGGTGAGGTACTCTACACCCACCATGGTCCTAGATGGCTTCAGGCCCTTCCCAGTAGGCACCGTCCCTCCCTTCTGGCAGGGACCACCCTCAACACCACTGTGGCTGACAGAGGCCAATGTGCACCAGGATTTCTGACACTGGCTTCCCAGAAGGAAGAGCTTGTGCAAAGCAGGTGAGGCCAGGCACGCAGGCTCTGAACTCGGGGGCCAGAGAGAGAGTACAGGACAGGCCTGGGGACGCGGCTCCCTGAGCCTTGGTTTTGTCACCTGCAAAACGGGCCAGATACTCCCATCTCACAGGGCAGATGCAAGTGAAAGGACCCAGGGAACATGTTCTGTCATTGGACTTTTGAAAGCTCAGGACACTGACATGGCGTTTTTCCAGTGAAAACCTAAAGACAGAAAGGGAGCAGGGTCTCTTTTAAGAGACTAAACCTCTGCCAGTGTCGCAAGTGTCCTGGGGTAGAGAACACAGCAGGACACGACCCACCACCCTAGGAGAGAGGTGGGAGGACCTCAGGGCAGCATCAATGGGCCAGACCATTGGCCAGGGCAGTCCTGGGAATAGGAGCCTGGGTGTGCTGTCAGGGGCAATAAGGTGGAGAGAAGAGTGCCAGCATGGGACAGGAGTGGCAGAATGTCTACCAGGACAGACCACCCCAGAGGTCTGGGGGAAAATGGATGGGAGACGTGGGAAAACCATCACCAAGGGCTGGAAGTGAAGTGGTGGGACCTGAAGCCAGGGAGTGGCAGTGGGGAGTGAGGAGGGGCAGACATCCGAGCTGATTTGGAGGAAAAGGCACTAGGACTGGTGACCAGCTTTGTCGGGGGAGGTCAAGTCTAGGGCTACAGCCAGGGATCCATGCCTTTCGAGTTTAGGACCACAGAGGGAGGGCCAGGGTGAAGTAGGAAGTGGCTAAATCCATCAGCCAGGAGAGTTCAGTCACCTAAGAGTCCAGCCAAGAGCCCCCACTTTTAAAAACCGCTGCAATTTCCCAGTGCTGGCCTCTGCAAGGGGCTCTGCATATGTGAGCTCATCTAACCCACTTCCACCCTCTGGGGTGGACGCCGCGACGGCCCCGTTTCAACGATCAGGAAACTGGGGCACAGGAGTGAACTGCCCTAGGTCGAAGCTCGTAAAATGGAGAGCAGGATTCGAACCAGGGTCGCTGGTGAAGTCCAAGCCGGCAGCTGCCACACCCCGAGGAAGGTCTCCAGTTTCCCTCGAAGCTTTCTGGCCGTGAGCGGGATACACCTAAGGGCCGCGAAGCACCCTATTCAGATCCTGCCCTCCCTTCCTCATTCTTTGCGAAATACTAAGGGTCCTCCCTGCCACCGCCGGTGTAGACAAAGTCAAACCACTACAGTCAGACCGGAGCCTGGGGTCGGGCCCTCCTTACCTGCGTGCTGCTCTCGGGCCCCGCCCCGCTCCGCCCCGGAGGGATCCTCAGGCCGGGCCCAGACCTAGGAGCCACCTGGGGATCCCGGGGTGGCTGCGCGCCGAGGGGGCGCCAGCGGGGACGTGAGCTGGCGCCGAGACAGCCTCGGCCCCCCAGCGCCAGGGCCACTGCCAGGAGACCCCCCGGCCAGCACCCACGTGGGGCGCCCCCGGGAGCCCGAGGGGTCCATCGCCTGTCGGGACCCGCTACCTCAAAGCGGCGGGTGCCGCCGAGTCGCTGGAGCTTCCGGACCCCAGGCCCGCCCCGCCGCCGAGCATGCTCAGTGCGAGCCGCCGCCGAAAGTTTTCTGGAACAAACACCCGCATCTGGGGCTTGGCGGGCCAGGAGGTGCCGGACGGGCGTGGGAGGGGGAGAGCGAGTTGGCGCGGCCCAGGCGCCCGGCGGCCAGGCCTGGGTTTGCTTGCGCCCAAACCGAATCAGAGCGGGTCACTCCCCTGCTCCCCGAGGTTACCAGGACCCCAAGGGCCCCTCCGCTACCGCCTACCTGGGTCTGTAAGCCTCAGCTCAGACGCACTTCCCCTGGGAACGGTTTCCTGACACACGGATGTGAATCCAGAGTTTCCCCATCCCCGCTTAGAAAACGGAGAAGCATTTGGAGCGCGGGGCCGGGAGTCCTGGAGCACCCAGAAGGTTCAGGAAAGCTCGGGGAGGAGGGGGTGGCCGCAGAGAAGGAAAAGGACCCTCACTTCCGGTTGCGTTCAGTGCAGACCAGCTGAGCACCCACTGCCCGAGCCTGCTGTGGGTCAGCCCTGGGCCGGCCCGGGTGCCCCTCGCATTCCCAGTGGGAAACAGGCCAGCCGCTGGGCCACCTCTCTGGGGACCTAGAAAGAGGGGAGCTGGTGTCTGAAGTCGCAGCCCTAAGCAAGCTCTCCCTGAACTCTCCGAGGGGACAGGGATTTGCTTTGCCAAGGGACGCAGGAGGAGGAGGAGGAGAAAGACACAAAAAGGGGGACTGGTGGAGCCTTTTGTGTGCTTCCTCATCCCTGCCTAGGTCCTGGGTGACAGCTGACACCTGTTGACGGGGGAGGGCTCCACTCCCGCCAGCCTTCCTGCGGGGCAGGCTGTTAGGCTGTCTATAAAGTCTCAGGCCAGCGAGCCTGGCCCCTGGCAGCCTCTCTCCCCATAACCCAGACCATCCAAGGACAGGCCTTTCCTGACCTAACATGGACAAGGCCATGGGGTTCGAGAAGCTGAGAATTTATAAGCCAAGTTCCCCACACCAGGGGGTACGTGGCAGCTGTCAGGCATGTGACAAGACCACAGGCTAAATGCCAAGCATGTTGCTGGACCGTTGGAGTTGTTTGACAGTCAGTCATTTAAAGGTTAATTTAATAGTCAACAACTTTATGATAAAGTAAAAAGCAAATAACCCTACATTTAAAAAATCTCCTTAGTATTTTTTATGGAGTCAGGGTCTCACTATGTTGCCAAGACTGGTCTTAAACTCCTGGGCTCAGACAATCCTCCACTTGAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAACCACACCTGGCCCAAACACCACATTTTAAAAACTAAAGCCTAAGCATTCATGGAAATGTAAAACAAGAGCGTCAAGTTATTGCCCCCATACATGTCCCCAGGAACCTTGGAGATGCTTCTAAGGTAATATATAAGAAGCTCCACATAGCAGAGAGTTTGCCCTGAAGCCAGACACAGGTGTAAATGAGACAAGAATTCTGCCCCACTCCTTAATTGCAAATGAGTCACCTCTCCTCTCCAGCTGTCAGTTTCTTCATTTATTAAAAAAAGATGAAGAATTTGGATAACAGTTCCCATCTTGCCATGAGGAAATGATGAAACAAACTAGAAACAAGCTGGACATCTAGGCTGAAAGGACAAAGCCCTCCTCTGCTGAAGCAGATCCCCATGGTGTCCCCTAGCCCGGCCCACACAGGGAATTAAGCTCCACAGGGTAGGTGTGTGTGTGTGTGTGCCCCTGAGTGCAAGTGTGCAGTCGTGCATGTGCATGTGTGCTTTACCCAGGCACCCAGGACAAAAGCAAACATCTAGTAGCTACCCCATAAATGTTTGTTTAAAGCAAACACAGTGATGAACTCCTTTAATTTTTTATCACTCTAAACAACTGTGAGATACTCACTAGCCTGGACACTGCCTGGTTTGTGGCTGGCCTATCCC | pathogenic | 79,707 |
Considering the variant on chromosome 4, location 5708483, involving gene EVC2 (EvC ciliary complex subunit 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | TAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTGTGCTCTGGGAACAGCCCTTACACCATTGCTCAGAAGAGGAAGCAGAGACCCTGAGGGCTGTGACTTGTCCCAGGCCCCACAAGAGGGAGTGGCCAAGGCAGGGACACACATGGCCAGAGCTCTTTCCTGTACAGTGTGCAGAAGGGCTATGCAAGACAGGCCCAGAGAGACGGAAGAAGGCTGGTCCCATCAACAGCTGGGATGGGCGTGGGCAGGGCCAGGGCCCAGGGGACGTGCTCAAGATGCCAAGGGCACCTGAATACAGGTGCTCATTCCCAGATTCCTGCAAAGGCAGGGGTTGCCCTTGAGGGTGAGGTACTCTACACCCACCATGGTCCTAGATGGCTTCAGGCCCTTCCCAGTAGGCACCGTCCCTCCCTTCTGGCAGGGACCACCCTCAACACCACTGTGGCTGACAGAGGCCAATGTGCACCAGGATTTCTGACACTGGCTTCCCAGAAGGAAGAGCTTGTGCAAAGCAGGTGAGGCCAGGCACGCAGGCTCTGAACTCGGGGGCCAGAGAGAGAGTACAGGACAGGCCTGGGGACGCGGCTCCCTGAGCCTTGGTTTTGTCACCTGCAAAACGGGCCAGATACTCCCATCTCACAGGGCAGATGCAAGTGAAAGGACCCAGGGAACATGTTCTGTCATTGGACTTTTGAAAGCTCAGGACACTGACATGGCGTTTTTCCAGTGAAAACCTAAAGACAGAAAGGGAGCAGGGTCTCTTTTAAGAGACTAAACCTCTGCCAGTGTCGCAAGTGTCCTGGGGTAGAGAACACAGCAGGACACGACCCACCACCCTAGGAGAGAGGTGGGAGGACCTCAGGGCAGCATCAATGGGCCAGACCATTGGCCAGGGCAGTCCTGGGAATAGGAGCCTGGGTGTGCTGTCAGGGGCAATAAGGTGGAGAGAAGAGTGCCAGCATGGGACAGGAGTGGCAGAATGTCTACCAGGACAGACCACCCCAGAGGTCTGGGGGAAAATGGATGGGAGACGTGGGAAAACCATCACCAAGGGCTGGAAGTGAAGTGGTGGGACCTGAAGCCAGGGAGTGGCAGTGGGGAGTGAGGAGGGGCAGACATCCGAGCTGATTTGGAGGAAAAGGCACTAGGACTGGTGACCAGCTTTGTCGGGGGAGGTCAAGTCTAGGGCTACAGCCAGGGATCCATGCCTTTCGAGTTTAGGACCACAGAGGGAGGGCCAGGGTGAAGTAGGAAGTGGCTAAATCCATCAGCCAGGAGAGTTCAGTCACCTAAGAGTCCAGCCAAGAGCCCCCACTTTTAAAAACCGCTGCAATTTCCCAGTGCTGGCCTCTGCAAGGGGCTCTGCATATGTGAGCTCATCTAACCCACTTCCACCCTCTGGGGTGGACGCCGCGACGGCCCCGTTTCAACGATCAGGAAACTGGGGCACAGGAGTGAACTGCCCTAGGTCGAAGCTCGTAAAATGGAGAGCAGGATTCGAACCAGGGTCGCTGGTGAAGTCCAAGCCGGCAGCTGCCACACCCCGAGGAAGGTCTCCAGTTTCCCTCGAAGCTTTCTGGCCGTGAGCGGGATACACCTAAGGGCCGCGAAGCACCCTATTCAGATCCTGCCCTCCCTTCCTCATTCTTTGCGAAATACTAAGGGTCCTCCCTGCCACCGCCGGTGTAGACAAAGTCAAACCACTACAGTCAGACCGGAGCCTGGGGTCGGGCCCTCCTTACCTGCGTGCTGCTCTCGGGCCCCGCCCCGCTCCGCCCCGGAGGGATCCTCAGGCCGGGCCCAGACCTAGGAGCCACCTGGGGATCCCGGGGTGGCTGCGCGCCGAGGGGGCGCCAGCGGGGACGTGAGCTGGCGCCGAGACAGCCTCGGCCCCCCAGCGCCAGGGCCACTGCCAGGAGACCCCCGGCCAGCACCCACGTGGGGCGCCCCCGGGAGCCCGAGGGGTCCATCGCCTGTCGGGACCCGCTACCTCAAAGCGGCGGGTGCCGCCGAGTCGCTGGAGCTTCCGGACCCCAGGCCCGCCCCGCCGCCGAGCATGCTCAGTGCGAGCCGCCGCCGAAAGTTTTCTGGAACAAACACCCGCATCTGGGGCTTGGCGGGCCAGGAGGTGCCGGACGGGCGTGGGAGGGGGAGAGCGAGTTGGCGCGGCCCAGGCGCCCGGCGGCCAGGCCTGGGTTTGCTTGCGCCCAAACCGAATCAGAGCGGGTCACTCCCCTGCTCCCCGAGGTTACCAGGACCCCAAGGGCCCCTCCGCTACCGCCTACCTGGGTCTGTAAGCCTCAGCTCAGACGCACTTCCCCTGGGAACGGTTTCCTGACACACGGATGTGAATCCAGAGTTTCCCCATCCCCGCTTAGAAAACGGAGAAGCATTTGGAGCGCGGGGCCGGGAGTCCTGGAGCACCCAGAAGGTTCAGGAAAGCTCGGGGAGGAGGGGGTGGCCGCAGAGAAGGAAAAGGACCCTCACTTCCGGTTGCGTTCAGTGCAGACCAGCTGAGCACCCACTGCCCGAGCCTGCTGTGGGTCAGCCCTGGGCCGGCCCGGGTGCCCCTCGCATTCCCAGTGGGAAACAGGCCAGCCGCTGGGCCACCTCTCTGGGGACCTAGAAAGAGGGGAGCTGGTGTCTGAAGTCGCAGCCCTAAGCAAGCTCTCCCTGAACTCTCCGAGGGGACAGGGATTTGCTTTGCCAAGGGACGCAGGAGGAGGAGGAGGAGAAAGACACAAAAAGGGGGACTGGTGGAGCCTTTTGTGTGCTTCCTCATCCCTGCCTAGGTCCTGGGTGACAGCTGACACCTGTTGACGGGGGAGGGCTCCACTCCCGCCAGCCTTCCTGCGGGGCAGGCTGTTAGGCTGTCTATAAAGTCTCAGGCCAGCGAGCCTGGCCCCTGGCAGCCTCTCTCCCCATAACCCAGACCATCCAAGGACAGGCCTTTCCTGACCTAACATGGACAAGGCCATGGGGTTCGAGAAGCTGAGAATTTATAAGCCAAGTTCCCCACACCAGGGGGTACGTGGCAGCTGTCAGGCATGTGACAAGACCACAGGCTAAATGCCAAGCATGTTGCTGGACCGTTGGAGTTGTTTGACAGTCAGTCATTTAAAGGTTAATTTAATAGTCAACAACTTTATGATAAAGTAAAAAGCAAATAACCCTACATTTAAAAAATCTCCTTAGTATTTTTTATGGAGTCAGGGTCTCACTATGTTGCCAAGACTGGTCTTAAACTCCTGGGCTCAGACAATCCTCCACTTGAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAACCACACCTGGCCCAAACACCACATTTTAAAAACTAAAGCCTAAGCATTCATGGAAATGTAAAACAAGAGCGTCAAGTTATTGCCCCCATACATGTCCCCAGGAACCTTGGAGATGCTTCTAAGGTAATATATAAGAAGCTCCACATAGCAGAGAGTTTGCCCTGAAGCCAGACACAGGTGTAAATGAGACAAGAATTCTGCCCCACTCCTTAATTGCAAATGAGTCACCTCTCCTCTCCAGCTGTCAGTTTCTTCATTTATTAAAAAAAGATGAAGAATTTGGATAACAGTTCCCATCTTGCCATGAGGAAATGATGAAACAAACTAGAAACAAGCTGGACATCTAGGCTGAAAGGACAAAGCCCTCCTCTGCTGAAGCAGATCCCCATGGTGTCCCCTAGCCCGGCCCACACAGGGAATTAAGCTCCACAGGGTAGGTGTGTGTGTGTGTGTGCCCCTGAGTGCAAGTGTGCAGTCGTGCATGTGCATGTGTGCTTTACCCAGGCACCCAGGACAAAAGCAAACATCTAGTAGCTACCCCATAAATGTTTGTTTAAAGCAAACACAGTGATGAACTCCTTTAATTTTTTATCACTCTAAACAACTGTGAGATACTCACTAGCCTGGACACTGCCTGGTTTGTGGCTGGCCTATCCCCCAGCCTGCAACACACACACA | TAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTGTGCTCTGGGAACAGCCCTTACACCATTGCTCAGAAGAGGAAGCAGAGACCCTGAGGGCTGTGACTTGTCCCAGGCCCCACAAGAGGGAGTGGCCAAGGCAGGGACACACATGGCCAGAGCTCTTTCCTGTACAGTGTGCAGAAGGGCTATGCAAGACAGGCCCAGAGAGACGGAAGAAGGCTGGTCCCATCAACAGCTGGGATGGGCGTGGGCAGGGCCAGGGCCCAGGGGACGTGCTCAAGATGCCAAGGGCACCTGAATACAGGTGCTCATTCCCAGATTCCTGCAAAGGCAGGGGTTGCCCTTGAGGGTGAGGTACTCTACACCCACCATGGTCCTAGATGGCTTCAGGCCCTTCCCAGTAGGCACCGTCCCTCCCTTCTGGCAGGGACCACCCTCAACACCACTGTGGCTGACAGAGGCCAATGTGCACCAGGATTTCTGACACTGGCTTCCCAGAAGGAAGAGCTTGTGCAAAGCAGGTGAGGCCAGGCACGCAGGCTCTGAACTCGGGGGCCAGAGAGAGAGTACAGGACAGGCCTGGGGACGCGGCTCCCTGAGCCTTGGTTTTGTCACCTGCAAAACGGGCCAGATACTCCCATCTCACAGGGCAGATGCAAGTGAAAGGACCCAGGGAACATGTTCTGTCATTGGACTTTTGAAAGCTCAGGACACTGACATGGCGTTTTTCCAGTGAAAACCTAAAGACAGAAAGGGAGCAGGGTCTCTTTTAAGAGACTAAACCTCTGCCAGTGTCGCAAGTGTCCTGGGGTAGAGAACACAGCAGGACACGACCCACCACCCTAGGAGAGAGGTGGGAGGACCTCAGGGCAGCATCAATGGGCCAGACCATTGGCCAGGGCAGTCCTGGGAATAGGAGCCTGGGTGTGCTGTCAGGGGCAATAAGGTGGAGAGAAGAGTGCCAGCATGGGACAGGAGTGGCAGAATGTCTACCAGGACAGACCACCCCAGAGGTCTGGGGGAAAATGGATGGGAGACGTGGGAAAACCATCACCAAGGGCTGGAAGTGAAGTGGTGGGACCTGAAGCCAGGGAGTGGCAGTGGGGAGTGAGGAGGGGCAGACATCCGAGCTGATTTGGAGGAAAAGGCACTAGGACTGGTGACCAGCTTTGTCGGGGGAGGTCAAGTCTAGGGCTACAGCCAGGGATCCATGCCTTTCGAGTTTAGGACCACAGAGGGAGGGCCAGGGTGAAGTAGGAAGTGGCTAAATCCATCAGCCAGGAGAGTTCAGTCACCTAAGAGTCCAGCCAAGAGCCCCCACTTTTAAAAACCGCTGCAATTTCCCAGTGCTGGCCTCTGCAAGGGGCTCTGCATATGTGAGCTCATCTAACCCACTTCCACCCTCTGGGGTGGACGCCGCGACGGCCCCGTTTCAACGATCAGGAAACTGGGGCACAGGAGTGAACTGCCCTAGGTCGAAGCTCGTAAAATGGAGAGCAGGATTCGAACCAGGGTCGCTGGTGAAGTCCAAGCCGGCAGCTGCCACACCCCGAGGAAGGTCTCCAGTTTCCCTCGAAGCTTTCTGGCCGTGAGCGGGATACACCTAAGGGCCGCGAAGCACCCTATTCAGATCCTGCCCTCCCTTCCTCATTCTTTGCGAAATACTAAGGGTCCTCCCTGCCACCGCCGGTGTAGACAAAGTCAAACCACTACAGTCAGACCGGAGCCTGGGGTCGGGCCCTCCTTACCTGCGTGCTGCTCTCGGGCCCCGCCCCGCTCCGCCCCGGAGGGATCCTCAGGCCGGGCCCAGACCTAGGAGCCACCTGGGGATCCCGGGGTGGCTGCGCGCCGAGGGGGCGCCAGCGGGGACGTGAGCTGGCGCCGAGACAGCCTCGGCCCCCCAGCGCCAGGGCCACTGCCAGGAGACCCCCGGCCAGCACCCACGTGGGGGCGCCCCCGGGAGCCCGAGGGGTCCATCGCCTGTCGGGACCCGCTACCTCAAAGCGGCGGGTGCCGCCGAGTCGCTGGAGCTTCCGGACCCCAGGCCCGCCCCGCCGCCGAGCATGCTCAGTGCGAGCCGCCGCCGAAAGTTTTCTGGAACAAACACCCGCATCTGGGGCTTGGCGGGCCAGGAGGTGCCGGACGGGCGTGGGAGGGGGAGAGCGAGTTGGCGCGGCCCAGGCGCCCGGCGGCCAGGCCTGGGTTTGCTTGCGCCCAAACCGAATCAGAGCGGGTCACTCCCCTGCTCCCCGAGGTTACCAGGACCCCAAGGGCCCCTCCGCTACCGCCTACCTGGGTCTGTAAGCCTCAGCTCAGACGCACTTCCCCTGGGAACGGTTTCCTGACACACGGATGTGAATCCAGAGTTTCCCCATCCCCGCTTAGAAAACGGAGAAGCATTTGGAGCGCGGGGCCGGGAGTCCTGGAGCACCCAGAAGGTTCAGGAAAGCTCGGGGAGGAGGGGGTGGCCGCAGAGAAGGAAAAGGACCCTCACTTCCGGTTGCGTTCAGTGCAGACCAGCTGAGCACCCACTGCCCGAGCCTGCTGTGGGTCAGCCCTGGGCCGGCCCGGGTGCCCCTCGCATTCCCAGTGGGAAACAGGCCAGCCGCTGGGCCACCTCTCTGGGGACCTAGAAAGAGGGGAGCTGGTGTCTGAAGTCGCAGCCCTAAGCAAGCTCTCCCTGAACTCTCCGAGGGGACAGGGATTTGCTTTGCCAAGGGACGCAGGAGGAGGAGGAGGAGAAAGACACAAAAAGGGGGACTGGTGGAGCCTTTTGTGTGCTTCCTCATCCCTGCCTAGGTCCTGGGTGACAGCTGACACCTGTTGACGGGGGAGGGCTCCACTCCCGCCAGCCTTCCTGCGGGGCAGGCTGTTAGGCTGTCTATAAAGTCTCAGGCCAGCGAGCCTGGCCCCTGGCAGCCTCTCTCCCCATAACCCAGACCATCCAAGGACAGGCCTTTCCTGACCTAACATGGACAAGGCCATGGGGTTCGAGAAGCTGAGAATTTATAAGCCAAGTTCCCCACACCAGGGGGTACGTGGCAGCTGTCAGGCATGTGACAAGACCACAGGCTAAATGCCAAGCATGTTGCTGGACCGTTGGAGTTGTTTGACAGTCAGTCATTTAAAGGTTAATTTAATAGTCAACAACTTTATGATAAAGTAAAAAGCAAATAACCCTACATTTAAAAAATCTCCTTAGTATTTTTTATGGAGTCAGGGTCTCACTATGTTGCCAAGACTGGTCTTAAACTCCTGGGCTCAGACAATCCTCCACTTGAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAACCACACCTGGCCCAAACACCACATTTTAAAAACTAAAGCCTAAGCATTCATGGAAATGTAAAACAAGAGCGTCAAGTTATTGCCCCCATACATGTCCCCAGGAACCTTGGAGATGCTTCTAAGGTAATATATAAGAAGCTCCACATAGCAGAGAGTTTGCCCTGAAGCCAGACACAGGTGTAAATGAGACAAGAATTCTGCCCCACTCCTTAATTGCAAATGAGTCACCTCTCCTCTCCAGCTGTCAGTTTCTTCATTTATTAAAAAAAGATGAAGAATTTGGATAACAGTTCCCATCTTGCCATGAGGAAATGATGAAACAAACTAGAAACAAGCTGGACATCTAGGCTGAAAGGACAAAGCCCTCCTCTGCTGAAGCAGATCCCCATGGTGTCCCCTAGCCCGGCCCACACAGGGAATTAAGCTCCACAGGGTAGGTGTGTGTGTGTGTGTGCCCCTGAGTGCAAGTGTGCAGTCGTGCATGTGCATGTGTGCTTTACCCAGGCACCCAGGACAAAAGCAAACATCTAGTAGCTACCCCATAAATGTTTGTTTAAAGCAAACACAGTGATGAACTCCTTTAATTTTTTATCACTCTAAACAACTGTGAGATACTCACTAGCCTGGACACTGCCTGGTTTGTGGCTGGCCTATCCCCCAGCCTGCAACACACACAC | pathogenic | 79,708 |
Regarding the variant found on chromosome 4 at position 5711351 in gene EVC: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | GAGCCTTTTGTGTGCTTCCTCATCCCTGCCTAGGTCCTGGGTGACAGCTGACACCTGTTGACGGGGGAGGGCTCCACTCCCGCCAGCCTTCCTGCGGGGCAGGCTGTTAGGCTGTCTATAAAGTCTCAGGCCAGCGAGCCTGGCCCCTGGCAGCCTCTCTCCCCATAACCCAGACCATCCAAGGACAGGCCTTTCCTGACCTAACATGGACAAGGCCATGGGGTTCGAGAAGCTGAGAATTTATAAGCCAAGTTCCCCACACCAGGGGGTACGTGGCAGCTGTCAGGCATGTGACAAGACCACAGGCTAAATGCCAAGCATGTTGCTGGACCGTTGGAGTTGTTTGACAGTCAGTCATTTAAAGGTTAATTTAATAGTCAACAACTTTATGATAAAGTAAAAAGCAAATAACCCTACATTTAAAAAATCTCCTTAGTATTTTTTATGGAGTCAGGGTCTCACTATGTTGCCAAGACTGGTCTTAAACTCCTGGGCTCAGACAATCCTCCACTTGAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAACCACACCTGGCCCAAACACCACATTTTAAAAACTAAAGCCTAAGCATTCATGGAAATGTAAAACAAGAGCGTCAAGTTATTGCCCCCATACATGTCCCCAGGAACCTTGGAGATGCTTCTAAGGTAATATATAAGAAGCTCCACATAGCAGAGAGTTTGCCCTGAAGCCAGACACAGGTGTAAATGAGACAAGAATTCTGCCCCACTCCTTAATTGCAAATGAGTCACCTCTCCTCTCCAGCTGTCAGTTTCTTCATTTATTAAAAAAAGATGAAGAATTTGGATAACAGTTCCCATCTTGCCATGAGGAAATGATGAAACAAACTAGAAACAAGCTGGACATCTAGGCTGAAAGGACAAAGCCCTCCTCTGCTGAAGCAGATCCCCATGGTGTCCCCTAGCCCGGCCCACACAGGGAATTAAGCTCCACAGGGTAGGTGTGTGTGTGTGTGTGCCCCTGAGTGCAAGTGTGCAGTCGTGCATGTGCATGTGTGCTTTACCCAGGCACCCAGGACAAAAGCAAACATCTAGTAGCTACCCCATAAATGTTTGTTTAAAGCAAACACAGTGATGAACTCCTTTAATTTTTTATCACTCTAAACAACTGTGAGATACTCACTAGCCTGGACACTGCCTGGTTTGTGGCTGGCCTATCCCCCAGCCTGCAACACACACACAACAGATTCTCTCCAAGTGCTGAGTAAATGAAGGATGGTGCAGTGTCCTGGTCCTAGTGGGGAGCGGGTGTAAGGGTCTCTTTATCCATTGTCTCAGTGGGGAGTGGGTGTAAGGGTCTCTCTACCCTTGGTCCTAGTGGGGACTAGGTGTAAGGGTCTCTCTACCCATCGTCTCAGTGGGGTCTGGGTGTAAGGATCCCTTTACCCATCCTCCTAGTGGAGACTGAGTGTAACGGTGTCTCCACCCATTGTCTCGACCTTCCCTGGGACAAAATAAGATTAAAACAGGAGTCTTCGCGTGAGCAAGTTCAGAGGCGTGGAGGGCGGTGTGTTCCCGGGAAGGTTGATGGGTAGAGGTTAGGGGCAAGGGCAGGGGGTTGGAATTGCATTGATCCCAGCGTCTTCATCAGGAGGATGGGCGGAGCACCCACCGCAGAGGGTTATTGAGAAAGTTAATGAGATCATTAAGCTAAATGCGTAGCATATTCTAAGCCTCAAAAAACTTAAAGGAGCCTTCTAAGCCTCAGTAAAGTTAAAGGGGTGGAAACCGGGCCCCCCTCCGGAAGGGTCCGGGGCTGGGAGGCGCGTCTGTCTCTGGGCATGCTCAGTGCAGGGGCAGGGCTGGGGCGGGGGTGGCTGAAAGTTTTGAGCGGTGATCCAGGCTCCTCCCTCCGGCTCGGCGAAGCAGGGAAGGGGAGAGAAGCAGGAGTCGGGAGACTGCACAGGCCAGAAAGTCTGCGGAGCGGGCCGCGCCCCTGGCCCGCCCGGGCTCCAAGTCCCGCGTCGCCGCCCTGGCGGGGACGGTGCAGCAGGCGGCGGGATGCGGCGGGGCGGCAGCCTGAGCGCCCCGGATGGCCCGCGGCGGGGCGGCCTGCAAGAGCGACGCGCGGCTGCTGCTGGGGCGGGACGCGCTGCGGCCGGCGCCCGCCCTGCTGGCCCCCGCCGTGCTGCTGGGCGCCGCGCTCGGCCTCGGCCTCGGCCTTTGGCTTGGCTGCCGCGCGGGCCGCCAGCGCACGCGACACCAGGTGGGTCGGCCGAGCAGACAGCGGCGGGGCGGGGAGCGCGGGGCGCGTGGCTTCTGGGTCCTGCGGGCCCGGAGCCCCGGCTCTGCGACTCCTTGAGCCTGGTTGGGAACTTCGCACGCAACCGCTTAGGCGTCGGGTTCCCCTTCTGCTCCAGGAGGGAGGTGGCGGCGTGACTAAAGGGCATTGGCCTGGGGTCCCCTGCGGTGCCTGTTACATCCCACTCCGTTGGGTGATCCTTGACAGCAGCCCAACTGCGCCACGCCTCGGTCTCCTCATCTGCAGCACCAAGGGTTTGGACAGGACGCTGGCCCTGCTCGCCATGGTGGACAGAAGGACGGCTGGGGCTCCCACGCCTGAATGCCTATTCCTGCTTCTGCCTCTTCCATCCTTGCGGTGTGGGTTACGTCGCCTGGCCTGAGTCCCAGCTGCCACATTGGCATTCATTTTTTCATTCACCCCACAGTAAAAGTTTTCAGGCACCTTCTACAGCCAGTCACTGGCCTAGGGACGACATTCATGAGCGGGAGAGACCCTGCCTTGAGGCTGTGAACCTCAAGGAGAAGGACGAATTGCAAGTTTGCAAGTAAACTATCGGTTATGACACCGCATGGGGAGTCTGCGATGGGACGCTGGCAATGCTAGCGTTTATTAAGTGCTGTGTACCAGGCACTGAACTAGACCCTCTCCCTAAATGATCTCAATGAATCTCCACAACAGTTTGTCTCTGCTTTGCAGATGAGGAAACTGAGGCACAGAGAGGTTAAGCAACTTACTAAAGTGACAGAAGTGTCTAACCCCAAAGCCACTGTGTTCTTCATGGATGAGGGTCGGGGTGGCTGCCTGAAGGAGACCAGTGGATGCTTCCTATGCAAGTGGCCCTCATGGAATTGGCTGTGCATGGCAACACCTGGCATATAGCAGGCATTCCATGAATAGTGGTATGGCCACTATTTTAGGTCCTTGCAACTTCTGCCTCTTTGGGGTGGGAGGAGAGTAAAGTCTGCGCGATCAGAAACAAGATGGCGTGGTCTTGCTACCCCCATTTCTGGCCCGTGGGAAGATGAGACAGATCTTGTGCGGTTTCCATGTAGGCACAGGCTCTTTCAGAATATAGGGGAATTTGGTGACTCATGGGGAGCATTACACCGCAAAGAGCTGATGAGGGCTGAAACTGAGATAATGCAAGATGCTCGTAGGTGAGTTGGGGGTTGTCAGATCCTGCTGGTGATTAAGAGACACTAAGAGATGCTGGCTTGTTGCATGGAGAGAGAAAGGGAAGTAACACACAGAGACTTGGCTGGGTGTCCTGTGCAATGTTTATAGACATCTGGTTCTTTATCCTCCAGCCCATGAGGTGGAGGAACTGCCATTATCCCCACTTTACAGTGAGGCAGGGGATGCTCTGCAAGGGTGTTTGTCCAGGGTGCCACGATGAGTAAACAGTGGGACTGAATTTCAACCCTAGTTGGTTTGAACCCCAAAGCTAGAGCCTTAAGTATCTGCTACCTGGTGAGGTGGTGGTTAGTATCCCATTTGCTAGCTGAGTCAGCTGAGGCTTACCGGGATTAACCAAGCCATCTGGGTTTGCACAGCTAGTCAGTTGAGGGTGATGGTGGCTCAGACCAGGGTGGCAGCCATGGAGGGGTCTGTGGCTCAAAGTAGGACTAATAGGATTTTGTTACAGTTTGATGTGATCCTTGCGACAACCTTCTTTCTAATGAGATTCTTTTCCTCCTGTCTCCTCCCTCTAGTTTTTATTTATAAAATGTATGTCAGACAATATGATTCTCCTGATTAAACACCTCCAGTGACTCCTGGCTGCCTGCAAAAGATAATGCCCAGGC | GAGCCTTTTGTGTGCTTCCTCATCCCTGCCTAGGTCCTGGGTGACAGCTGACACCTGTTGACGGGGGAGGGCTCCACTCCCGCCAGCCTTCCTGCGGGGCAGGCTGTTAGGCTGTCTATAAAGTCTCAGGCCAGCGAGCCTGGCCCCTGGCAGCCTCTCTCCCCATAACCCAGACCATCCAAGGACAGGCCTTTCCTGACCTAACATGGACAAGGCCATGGGGTTCGAGAAGCTGAGAATTTATAAGCCAAGTTCCCCACACCAGGGGGTACGTGGCAGCTGTCAGGCATGTGACAAGACCACAGGCTAAATGCCAAGCATGTTGCTGGACCGTTGGAGTTGTTTGACAGTCAGTCATTTAAAGGTTAATTTAATAGTCAACAACTTTATGATAAAGTAAAAAGCAAATAACCCTACATTTAAAAAATCTCCTTAGTATTTTTTATGGAGTCAGGGTCTCACTATGTTGCCAAGACTGGTCTTAAACTCCTGGGCTCAGACAATCCTCCACTTGAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAACCACACCTGGCCCAAACACCACATTTTAAAAACTAAAGCCTAAGCATTCATGGAAATGTAAAACAAGAGCGTCAAGTTATTGCCCCCATACATGTCCCCAGGAACCTTGGAGATGCTTCTAAGGTAATATATAAGAAGCTCCACATAGCAGAGAGTTTGCCCTGAAGCCAGACACAGGTGTAAATGAGACAAGAATTCTGCCCCACTCCTTAATTGCAAATGAGTCACCTCTCCTCTCCAGCTGTCAGTTTCTTCATTTATTAAAAAAAGATGAAGAATTTGGATAACAGTTCCCATCTTGCCATGAGGAAATGATGAAACAAACTAGAAACAAGCTGGACATCTAGGCTGAAAGGACAAAGCCCTCCTCTGCTGAAGCAGATCCCCATGGTGTCCCCTAGCCCGGCCCACACAGGGAATTAAGCTCCACAGGGTAGGTGTGTGTGTGTGTGTGCCCCTGAGTGCAAGTGTGCAGTCGTGCATGTGCATGTGTGCTTTACCCAGGCACCCAGGACAAAAGCAAACATCTAGTAGCTACCCCATAAATGTTTGTTTAAAGCAAACACAGTGATGAACTCCTTTAATTTTTTATCACTCTAAACAACTGTGAGATACTCACTAGCCTGGACACTGCCTGGTTTGTGGCTGGCCTATCCCCCAGCCTGCAACACACACACAACAGATTCTCTCCAAGTGCTGAGTAAATGAAGGATGGTGCAGTGTCCTGGTCCTAGTGGGGAGCGGGTGTAAGGGTCTCTTTATCCATTGTCTCAGTGGGGAGTGGGTGTAAGGGTCTCTCTACCCTTGGTCCTAGTGGGGACTAGGTGTAAGGGTCTCTCTACCCATCGTCTCAGTGGGGTCTGGGTGTAAGGATCCCTTTACCCATCCTCCTAGTGGAGACTGAGTGTAACGGTGTCTCCACCCATTGTCTCGACCTTCCCTGGGACAAAATAAGATTAAAACAGGAGTCTTCGCGTGAGCAAGTTCAGAGGCGTGGAGGGCGGTGTGTTCCCGGGAAGGTTGATGGGTAGAGGTTAGGGGCAAGGGCAGGGGGTTGGAATTGCATTGATCCCAGCGTCTTCATCAGGAGGATGGGCGGAGCACCCACCGCAGAGGGTTATTGAGAAAGTTAATGAGATCATTAAGCTAAATGCGTAGCATATTCTAAGCCTCAAAAAACTTAAAGGAGCCTTCTAAGCCTCAGTAAAGTTAAAGGGGTGGAAACCGGGCCCCCCTCCGGAAGGGTCCGGGGCTGGGAGGCGCGTCTGTCTCTGGGCATGCTCAGTGCAGGGGCAGGGCTGGGGCGGGGGTGGCTGAAAGTTTTGAGCGGTGATCCAGGCTCCTCCCTCCGGCTCGGCGAAGCAGGGAAGGGGAGAGAAGCAGGAGTCGGGAGACTGCACAGGCCAGAAAGTCTGCGGAGCGGGCCGCGCCCCTGGCCCGCCCGGGCTCCAAGTCCCGCGTCGCCGCCCTGGCGGGGACGGTGCAGCAGGCGGCGGGATGCGGCGGGGCGGCCTGCAAGAGCGACGCGCGGCTGCTGCTGGGGCGGGACGCGCTGCGGCCGGCGCCCGCCCTGCTGGCCCCCGCCGTGCTGCTGGGCGCCGCGCTCGGCCTCGGCCTCGGCCTTTGGCTTGGCTGCCGCGCGGGCCGCCAGCGCACGCGACACCAGGTGGGTCGGCCGAGCAGACAGCGGCGGGGCGGGGAGCGCGGGGCGCGTGGCTTCTGGGTCCTGCGGGCCCGGAGCCCCGGCTCTGCGACTCCTTGAGCCTGGTTGGGAACTTCGCACGCAACCGCTTAGGCGTCGGGTTCCCCTTCTGCTCCAGGAGGGAGGTGGCGGCGTGACTAAAGGGCATTGGCCTGGGGTCCCCTGCGGTGCCTGTTACATCCCACTCCGTTGGGTGATCCTTGACAGCAGCCCAACTGCGCCACGCCTCGGTCTCCTCATCTGCAGCACCAAGGGTTTGGACAGGACGCTGGCCCTGCTCGCCATGGTGGACAGAAGGACGGCTGGGGCTCCCACGCCTGAATGCCTATTCCTGCTTCTGCCTCTTCCATCCTTGCGGTGTGGGTTACGTCGCCTGGCCTGAGTCCCAGCTGCCACATTGGCATTCATTTTTTCATTCACCCCACAGTAAAAGTTTTCAGGCACCTTCTACAGCCAGTCACTGGCCTAGGGACGACATTCATGAGCGGGAGAGACCCTGCCTTGAGGCTGTGAACCTCAAGGAGAAGGACGAATTGCAAGTTTGCAAGTAAACTATCGGTTATGACACCGCATGGGGAGTCTGCGATGGGACGCTGGCAATGCTAGCGTTTATTAAGTGCTGTGTACCAGGCACTGAACTAGACCCTCTCCCTAAATGATCTCAATGAATCTCCACAACAGTTTGTCTCTGCTTTGCAGATGAGGAAACTGAGGCACAGAGAGGTTAAGCAACTTACTAAAGTGACAGAAGTGTCTAACCCCAAAGCCACTGTGTTCTTCATGGATGAGGGTCGGGGTGGCTGCCTGAAGGAGACCAGTGGATGCTTCCTATGCAAGTGGCCCTCATGGAATTGGCTGTGCATGGCAACACCTGGCATATAGCAGGCATTCCATGAATAGTGGTATGGCCACTATTTTAGGTCCTTGCAACTTCTGCCTCTTTGGGGTGGGAGGAGAGTAAAGTCTGCGCGATCAGAAACAAGATGGCGTGGTCTTGCTACCCCCATTTCTGGCCCGTGGGAAGATGAGACAGATCTTGTGCGGTTTCCATGTAGGCACAGGCTCTTTCAGAATATAGGGGAATTTGGTGACTCATGGGGAGCATTACACCGCAAAGAGCTGATGAGGGCTGAAACTGAGATAATGCAAGATGCTCGTAGGTGAGTTGGGGGTTGTCAGATCCTGCTGGTGATTAAGAGACACTAAGAGATGCTGGCTTGTTGCATGGAGAGAGAAAGGGAAGTAACACACAGAGACTTGGCTGGGTGTCCTGTGCAATGTTTATAGACATCTGGTTCTTTATCCTCCAGCCCATGAGGTGGAGGAACTGCCATTATCCCCACTTTACAGTGAGGCAGGGGATGCTCTGCAAGGGTGTTTGTCCAGGGTGCCACGATGAGTAAACAGTGGGACTGAATTTCAACCCTAGTTGGTTTGAACCCCAAAGCTAGAGCCTTAAGTATCTGCTACCTGGTGAGGTGGTGGTTAGTATCCCATTTGCTAGCTGAGTCAGCTGAGGCTTACCGGGATTAACCAAGCCATCTGGGTTTGCACAGCTAGTCAGTTGAGGGTGATGGTGGCTCAGACCAGGGTGGCAGCCATGGAGGGGTCTGTGGCTCAAAGTAGGACTAATAGGATTTTGTTACAGTTTGATGTGATCCTTGCGACAACCTTCTTTCTAATGAGATTCTTTTCCTCCTGTCTCCTCCCTCTAGTTTTTATTTATAAAATGTATGTCAGACAATATGATTCTCCTGATTAAACACCTCCAGTGACTCCTGGCTGCCTGCAAAAGATAATGCCCAGGCNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 79,717 |
Considering the variant on chromosome 4, location 5711403, involving gene EVC, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | ACCTGTTGACGGGGGAGGGCTCCACTCCCGCCAGCCTTCCTGCGGGGCAGGCTGTTAGGCTGTCTATAAAGTCTCAGGCCAGCGAGCCTGGCCCCTGGCAGCCTCTCTCCCCATAACCCAGACCATCCAAGGACAGGCCTTTCCTGACCTAACATGGACAAGGCCATGGGGTTCGAGAAGCTGAGAATTTATAAGCCAAGTTCCCCACACCAGGGGGTACGTGGCAGCTGTCAGGCATGTGACAAGACCACAGGCTAAATGCCAAGCATGTTGCTGGACCGTTGGAGTTGTTTGACAGTCAGTCATTTAAAGGTTAATTTAATAGTCAACAACTTTATGATAAAGTAAAAAGCAAATAACCCTACATTTAAAAAATCTCCTTAGTATTTTTTATGGAGTCAGGGTCTCACTATGTTGCCAAGACTGGTCTTAAACTCCTGGGCTCAGACAATCCTCCACTTGAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAACCACACCTGGCCCAAACACCACATTTTAAAAACTAAAGCCTAAGCATTCATGGAAATGTAAAACAAGAGCGTCAAGTTATTGCCCCCATACATGTCCCCAGGAACCTTGGAGATGCTTCTAAGGTAATATATAAGAAGCTCCACATAGCAGAGAGTTTGCCCTGAAGCCAGACACAGGTGTAAATGAGACAAGAATTCTGCCCCACTCCTTAATTGCAAATGAGTCACCTCTCCTCTCCAGCTGTCAGTTTCTTCATTTATTAAAAAAAGATGAAGAATTTGGATAACAGTTCCCATCTTGCCATGAGGAAATGATGAAACAAACTAGAAACAAGCTGGACATCTAGGCTGAAAGGACAAAGCCCTCCTCTGCTGAAGCAGATCCCCATGGTGTCCCCTAGCCCGGCCCACACAGGGAATTAAGCTCCACAGGGTAGGTGTGTGTGTGTGTGTGCCCCTGAGTGCAAGTGTGCAGTCGTGCATGTGCATGTGTGCTTTACCCAGGCACCCAGGACAAAAGCAAACATCTAGTAGCTACCCCATAAATGTTTGTTTAAAGCAAACACAGTGATGAACTCCTTTAATTTTTTATCACTCTAAACAACTGTGAGATACTCACTAGCCTGGACACTGCCTGGTTTGTGGCTGGCCTATCCCCCAGCCTGCAACACACACACAACAGATTCTCTCCAAGTGCTGAGTAAATGAAGGATGGTGCAGTGTCCTGGTCCTAGTGGGGAGCGGGTGTAAGGGTCTCTTTATCCATTGTCTCAGTGGGGAGTGGGTGTAAGGGTCTCTCTACCCTTGGTCCTAGTGGGGACTAGGTGTAAGGGTCTCTCTACCCATCGTCTCAGTGGGGTCTGGGTGTAAGGATCCCTTTACCCATCCTCCTAGTGGAGACTGAGTGTAACGGTGTCTCCACCCATTGTCTCGACCTTCCCTGGGACAAAATAAGATTAAAACAGGAGTCTTCGCGTGAGCAAGTTCAGAGGCGTGGAGGGCGGTGTGTTCCCGGGAAGGTTGATGGGTAGAGGTTAGGGGCAAGGGCAGGGGGTTGGAATTGCATTGATCCCAGCGTCTTCATCAGGAGGATGGGCGGAGCACCCACCGCAGAGGGTTATTGAGAAAGTTAATGAGATCATTAAGCTAAATGCGTAGCATATTCTAAGCCTCAAAAAACTTAAAGGAGCCTTCTAAGCCTCAGTAAAGTTAAAGGGGTGGAAACCGGGCCCCCCTCCGGAAGGGTCCGGGGCTGGGAGGCGCGTCTGTCTCTGGGCATGCTCAGTGCAGGGGCAGGGCTGGGGCGGGGGTGGCTGAAAGTTTTGAGCGGTGATCCAGGCTCCTCCCTCCGGCTCGGCGAAGCAGGGAAGGGGAGAGAAGCAGGAGTCGGGAGACTGCACAGGCCAGAAAGTCTGCGGAGCGGGCCGCGCCCCTGGCCCGCCCGGGCTCCAAGTCCCGCGTCGCCGCCCTGGCGGGGACGGTGCAGCAGGCGGCGGGATGCGGCGGGGCGGCAGCCTGAGCGCCCCGGATGGCCCGCGGCGGGGCGGCCTGCAAGAGCGACGCGCGGCTGCTGCTGGGGCGGGACGCGCTGCGGCCGGCGCCCGCCCTGCTGGCCCCCGCCGTGCTGCTGGGCGCCGCGCTCGGCCTCGGCCTCGGCCTTTGGCTTGGCTGCCGCGCGGGCCGCCAGCGCACGCGACACCAGGTGGGTCGGCCGAGCAGACAGCGGCGGGGCGGGGAGCGCGGGGCGCGTGGCTTCTGGGTCCTGCGGGCCCGGAGCCCCGGCTCTGCGACTCCTTGAGCCTGGTTGGGAACTTCGCACGCAACCGCTTAGGCGTCGGGTTCCCCTTCTGCTCCAGGAGGGAGGTGGCGGCGTGACTAAAGGGCATTGGCCTGGGGTCCCCTGCGGTGCCTGTTACATCCCACTCCGTTGGGTGATCCTTGACAGCAGCCCAACTGCGCCACGCCTCGGTCTCCTCATCTGCAGCACCAAGGGTTTGGACAGGACGCTGGCCCTGCTCGCCATGGTGGACAGAAGGACGGCTGGGGCTCCCACGCCTGAATGCCTATTCCTGCTTCTGCCTCTTCCATCCTTGCGGTGTGGGTTACGTCGCCTGGCCTGAGTCCCAGCTGCCACATTGGCATTCATTTTTTCATTCACCCCACAGTAAAAGTTTTCAGGCACCTTCTACAGCCAGTCACTGGCCTAGGGACGACATTCATGAGCGGGAGAGACCCTGCCTTGAGGCTGTGAACCTCAAGGAGAAGGACGAATTGCAAGTTTGCAAGTAAACTATCGGTTATGACACCGCATGGGGAGTCTGCGATGGGACGCTGGCAATGCTAGCGTTTATTAAGTGCTGTGTACCAGGCACTGAACTAGACCCTCTCCCTAAATGATCTCAATGAATCTCCACAACAGTTTGTCTCTGCTTTGCAGATGAGGAAACTGAGGCACAGAGAGGTTAAGCAACTTACTAAAGTGACAGAAGTGTCTAACCCCAAAGCCACTGTGTTCTTCATGGATGAGGGTCGGGGTGGCTGCCTGAAGGAGACCAGTGGATGCTTCCTATGCAAGTGGCCCTCATGGAATTGGCTGTGCATGGCAACACCTGGCATATAGCAGGCATTCCATGAATAGTGGTATGGCCACTATTTTAGGTCCTTGCAACTTCTGCCTCTTTGGGGTGGGAGGAGAGTAAAGTCTGCGCGATCAGAAACAAGATGGCGTGGTCTTGCTACCCCCATTTCTGGCCCGTGGGAAGATGAGACAGATCTTGTGCGGTTTCCATGTAGGCACAGGCTCTTTCAGAATATAGGGGAATTTGGTGACTCATGGGGAGCATTACACCGCAAAGAGCTGATGAGGGCTGAAACTGAGATAATGCAAGATGCTCGTAGGTGAGTTGGGGGTTGTCAGATCCTGCTGGTGATTAAGAGACACTAAGAGATGCTGGCTTGTTGCATGGAGAGAGAAAGGGAAGTAACACACAGAGACTTGGCTGGGTGTCCTGTGCAATGTTTATAGACATCTGGTTCTTTATCCTCCAGCCCATGAGGTGGAGGAACTGCCATTATCCCCACTTTACAGTGAGGCAGGGGATGCTCTGCAAGGGTGTTTGTCCAGGGTGCCACGATGAGTAAACAGTGGGACTGAATTTCAACCCTAGTTGGTTTGAACCCCAAAGCTAGAGCCTTAAGTATCTGCTACCTGGTGAGGTGGTGGTTAGTATCCCATTTGCTAGCTGAGTCAGCTGAGGCTTACCGGGATTAACCAAGCCATCTGGGTTTGCACAGCTAGTCAGTTGAGGGTGATGGTGGCTCAGACCAGGGTGGCAGCCATGGAGGGGTCTGTGGCTCAAAGTAGGACTAATAGGATTTTGTTACAGTTTGATGTGATCCTTGCGACAACCTTCTTTCTAATGAGATTCTTTTCCTCCTGTCTCCTCCCTCTAGTTTTTATTTATAAAATGTATGTCAGACAATATGATTCTCCTGATTAAACACCTCCAGTGACTCCTGGCTGCCTGCAAAAGATAATGCCCAGGCTGGGCACTGTGGCTCATGCCTGTCACCCCAGCACTTTGGGAGGCCAAGGCGA | ACCTGTTGACGGGGGAGGGCTCCACTCCCGCCAGCCTTCCTGCGGGGCAGGCTGTTAGGCTGTCTATAAAGTCTCAGGCCAGCGAGCCTGGCCCCTGGCAGCCTCTCTCCCCATAACCCAGACCATCCAAGGACAGGCCTTTCCTGACCTAACATGGACAAGGCCATGGGGTTCGAGAAGCTGAGAATTTATAAGCCAAGTTCCCCACACCAGGGGGTACGTGGCAGCTGTCAGGCATGTGACAAGACCACAGGCTAAATGCCAAGCATGTTGCTGGACCGTTGGAGTTGTTTGACAGTCAGTCATTTAAAGGTTAATTTAATAGTCAACAACTTTATGATAAAGTAAAAAGCAAATAACCCTACATTTAAAAAATCTCCTTAGTATTTTTTATGGAGTCAGGGTCTCACTATGTTGCCAAGACTGGTCTTAAACTCCTGGGCTCAGACAATCCTCCACTTGAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAACCACACCTGGCCCAAACACCACATTTTAAAAACTAAAGCCTAAGCATTCATGGAAATGTAAAACAAGAGCGTCAAGTTATTGCCCCCATACATGTCCCCAGGAACCTTGGAGATGCTTCTAAGGTAATATATAAGAAGCTCCACATAGCAGAGAGTTTGCCCTGAAGCCAGACACAGGTGTAAATGAGACAAGAATTCTGCCCCACTCCTTAATTGCAAATGAGTCACCTCTCCTCTCCAGCTGTCAGTTTCTTCATTTATTAAAAAAAGATGAAGAATTTGGATAACAGTTCCCATCTTGCCATGAGGAAATGATGAAACAAACTAGAAACAAGCTGGACATCTAGGCTGAAAGGACAAAGCCCTCCTCTGCTGAAGCAGATCCCCATGGTGTCCCCTAGCCCGGCCCACACAGGGAATTAAGCTCCACAGGGTAGGTGTGTGTGTGTGTGTGCCCCTGAGTGCAAGTGTGCAGTCGTGCATGTGCATGTGTGCTTTACCCAGGCACCCAGGACAAAAGCAAACATCTAGTAGCTACCCCATAAATGTTTGTTTAAAGCAAACACAGTGATGAACTCCTTTAATTTTTTATCACTCTAAACAACTGTGAGATACTCACTAGCCTGGACACTGCCTGGTTTGTGGCTGGCCTATCCCCCAGCCTGCAACACACACACAACAGATTCTCTCCAAGTGCTGAGTAAATGAAGGATGGTGCAGTGTCCTGGTCCTAGTGGGGAGCGGGTGTAAGGGTCTCTTTATCCATTGTCTCAGTGGGGAGTGGGTGTAAGGGTCTCTCTACCCTTGGTCCTAGTGGGGACTAGGTGTAAGGGTCTCTCTACCCATCGTCTCAGTGGGGTCTGGGTGTAAGGATCCCTTTACCCATCCTCCTAGTGGAGACTGAGTGTAACGGTGTCTCCACCCATTGTCTCGACCTTCCCTGGGACAAAATAAGATTAAAACAGGAGTCTTCGCGTGAGCAAGTTCAGAGGCGTGGAGGGCGGTGTGTTCCCGGGAAGGTTGATGGGTAGAGGTTAGGGGCAAGGGCAGGGGGTTGGAATTGCATTGATCCCAGCGTCTTCATCAGGAGGATGGGCGGAGCACCCACCGCAGAGGGTTATTGAGAAAGTTAATGAGATCATTAAGCTAAATGCGTAGCATATTCTAAGCCTCAAAAAACTTAAAGGAGCCTTCTAAGCCTCAGTAAAGTTAAAGGGGTGGAAACCGGGCCCCCCTCCGGAAGGGTCCGGGGCTGGGAGGCGCGTCTGTCTCTGGGCATGCTCAGTGCAGGGGCAGGGCTGGGGCGGGGGTGGCTGAAAGTTTTGAGCGGTGATCCAGGCTCCTCCCTCCGGCTCGGCGAAGCAGGGAAGGGGAGAGAAGCAGGAGTCGGGAGACTGCACAGGCCAGAAAGTCTGCGGAGCGGGCCGCGCCCCTGGCCCGCCCGGGCTCCAAGTCCCGCGTCGCCGCCCTGGCGGGGACGGTGCAGCAGGCGGCGGGATGCGGCGGGGCGGCAGCCTGAGCGCCCCGGATGGCCCGCGGCGGGGCGGCCTGAAGAGCGACGCGCGGCTGCTGCTGGGGCGGGACGCGCTGCGGCCGGCGCCCGCCCTGCTGGCCCCCGCCGTGCTGCTGGGCGCCGCGCTCGGCCTCGGCCTCGGCCTTTGGCTTGGCTGCCGCGCGGGCCGCCAGCGCACGCGACACCAGGTGGGTCGGCCGAGCAGACAGCGGCGGGGCGGGGAGCGCGGGGCGCGTGGCTTCTGGGTCCTGCGGGCCCGGAGCCCCGGCTCTGCGACTCCTTGAGCCTGGTTGGGAACTTCGCACGCAACCGCTTAGGCGTCGGGTTCCCCTTCTGCTCCAGGAGGGAGGTGGCGGCGTGACTAAAGGGCATTGGCCTGGGGTCCCCTGCGGTGCCTGTTACATCCCACTCCGTTGGGTGATCCTTGACAGCAGCCCAACTGCGCCACGCCTCGGTCTCCTCATCTGCAGCACCAAGGGTTTGGACAGGACGCTGGCCCTGCTCGCCATGGTGGACAGAAGGACGGCTGGGGCTCCCACGCCTGAATGCCTATTCCTGCTTCTGCCTCTTCCATCCTTGCGGTGTGGGTTACGTCGCCTGGCCTGAGTCCCAGCTGCCACATTGGCATTCATTTTTTCATTCACCCCACAGTAAAAGTTTTCAGGCACCTTCTACAGCCAGTCACTGGCCTAGGGACGACATTCATGAGCGGGAGAGACCCTGCCTTGAGGCTGTGAACCTCAAGGAGAAGGACGAATTGCAAGTTTGCAAGTAAACTATCGGTTATGACACCGCATGGGGAGTCTGCGATGGGACGCTGGCAATGCTAGCGTTTATTAAGTGCTGTGTACCAGGCACTGAACTAGACCCTCTCCCTAAATGATCTCAATGAATCTCCACAACAGTTTGTCTCTGCTTTGCAGATGAGGAAACTGAGGCACAGAGAGGTTAAGCAACTTACTAAAGTGACAGAAGTGTCTAACCCCAAAGCCACTGTGTTCTTCATGGATGAGGGTCGGGGTGGCTGCCTGAAGGAGACCAGTGGATGCTTCCTATGCAAGTGGCCCTCATGGAATTGGCTGTGCATGGCAACACCTGGCATATAGCAGGCATTCCATGAATAGTGGTATGGCCACTATTTTAGGTCCTTGCAACTTCTGCCTCTTTGGGGTGGGAGGAGAGTAAAGTCTGCGCGATCAGAAACAAGATGGCGTGGTCTTGCTACCCCCATTTCTGGCCCGTGGGAAGATGAGACAGATCTTGTGCGGTTTCCATGTAGGCACAGGCTCTTTCAGAATATAGGGGAATTTGGTGACTCATGGGGAGCATTACACCGCAAAGAGCTGATGAGGGCTGAAACTGAGATAATGCAAGATGCTCGTAGGTGAGTTGGGGGTTGTCAGATCCTGCTGGTGATTAAGAGACACTAAGAGATGCTGGCTTGTTGCATGGAGAGAGAAAGGGAAGTAACACACAGAGACTTGGCTGGGTGTCCTGTGCAATGTTTATAGACATCTGGTTCTTTATCCTCCAGCCCATGAGGTGGAGGAACTGCCATTATCCCCACTTTACAGTGAGGCAGGGGATGCTCTGCAAGGGTGTTTGTCCAGGGTGCCACGATGAGTAAACAGTGGGACTGAATTTCAACCCTAGTTGGTTTGAACCCCAAAGCTAGAGCCTTAAGTATCTGCTACCTGGTGAGGTGGTGGTTAGTATCCCATTTGCTAGCTGAGTCAGCTGAGGCTTACCGGGATTAACCAAGCCATCTGGGTTTGCACAGCTAGTCAGTTGAGGGTGATGGTGGCTCAGACCAGGGTGGCAGCCATGGAGGGGTCTGTGGCTCAAAGTAGGACTAATAGGATTTTGTTACAGTTTGATGTGATCCTTGCGACAACCTTCTTTCTAATGAGATTCTTTTCCTCCTGTCTCCTCCCTCTAGTTTTTATTTATAAAATGTATGTCAGACAATATGATTCTCCTGATTAAACACCTCCAGTGACTCCTGGCTGCCTGCAAAAGATAATGCCCAGGCTGGGCACTGTGGCTCATGCCTGTCACCCCAGCACTTTGGGAGGCCAAGGCGAN | pathogenic | 79,719 |
Variant on chromosome 4, at position 5711412, affecting EVC (EvC ciliary complex subunit 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | CGGGGGAGGGCTCCACTCCCGCCAGCCTTCCTGCGGGGCAGGCTGTTAGGCTGTCTATAAAGTCTCAGGCCAGCGAGCCTGGCCCCTGGCAGCCTCTCTCCCCATAACCCAGACCATCCAAGGACAGGCCTTTCCTGACCTAACATGGACAAGGCCATGGGGTTCGAGAAGCTGAGAATTTATAAGCCAAGTTCCCCACACCAGGGGGTACGTGGCAGCTGTCAGGCATGTGACAAGACCACAGGCTAAATGCCAAGCATGTTGCTGGACCGTTGGAGTTGTTTGACAGTCAGTCATTTAAAGGTTAATTTAATAGTCAACAACTTTATGATAAAGTAAAAAGCAAATAACCCTACATTTAAAAAATCTCCTTAGTATTTTTTATGGAGTCAGGGTCTCACTATGTTGCCAAGACTGGTCTTAAACTCCTGGGCTCAGACAATCCTCCACTTGAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAACCACACCTGGCCCAAACACCACATTTTAAAAACTAAAGCCTAAGCATTCATGGAAATGTAAAACAAGAGCGTCAAGTTATTGCCCCCATACATGTCCCCAGGAACCTTGGAGATGCTTCTAAGGTAATATATAAGAAGCTCCACATAGCAGAGAGTTTGCCCTGAAGCCAGACACAGGTGTAAATGAGACAAGAATTCTGCCCCACTCCTTAATTGCAAATGAGTCACCTCTCCTCTCCAGCTGTCAGTTTCTTCATTTATTAAAAAAAGATGAAGAATTTGGATAACAGTTCCCATCTTGCCATGAGGAAATGATGAAACAAACTAGAAACAAGCTGGACATCTAGGCTGAAAGGACAAAGCCCTCCTCTGCTGAAGCAGATCCCCATGGTGTCCCCTAGCCCGGCCCACACAGGGAATTAAGCTCCACAGGGTAGGTGTGTGTGTGTGTGTGCCCCTGAGTGCAAGTGTGCAGTCGTGCATGTGCATGTGTGCTTTACCCAGGCACCCAGGACAAAAGCAAACATCTAGTAGCTACCCCATAAATGTTTGTTTAAAGCAAACACAGTGATGAACTCCTTTAATTTTTTATCACTCTAAACAACTGTGAGATACTCACTAGCCTGGACACTGCCTGGTTTGTGGCTGGCCTATCCCCCAGCCTGCAACACACACACAACAGATTCTCTCCAAGTGCTGAGTAAATGAAGGATGGTGCAGTGTCCTGGTCCTAGTGGGGAGCGGGTGTAAGGGTCTCTTTATCCATTGTCTCAGTGGGGAGTGGGTGTAAGGGTCTCTCTACCCTTGGTCCTAGTGGGGACTAGGTGTAAGGGTCTCTCTACCCATCGTCTCAGTGGGGTCTGGGTGTAAGGATCCCTTTACCCATCCTCCTAGTGGAGACTGAGTGTAACGGTGTCTCCACCCATTGTCTCGACCTTCCCTGGGACAAAATAAGATTAAAACAGGAGTCTTCGCGTGAGCAAGTTCAGAGGCGTGGAGGGCGGTGTGTTCCCGGGAAGGTTGATGGGTAGAGGTTAGGGGCAAGGGCAGGGGGTTGGAATTGCATTGATCCCAGCGTCTTCATCAGGAGGATGGGCGGAGCACCCACCGCAGAGGGTTATTGAGAAAGTTAATGAGATCATTAAGCTAAATGCGTAGCATATTCTAAGCCTCAAAAAACTTAAAGGAGCCTTCTAAGCCTCAGTAAAGTTAAAGGGGTGGAAACCGGGCCCCCCTCCGGAAGGGTCCGGGGCTGGGAGGCGCGTCTGTCTCTGGGCATGCTCAGTGCAGGGGCAGGGCTGGGGCGGGGGTGGCTGAAAGTTTTGAGCGGTGATCCAGGCTCCTCCCTCCGGCTCGGCGAAGCAGGGAAGGGGAGAGAAGCAGGAGTCGGGAGACTGCACAGGCCAGAAAGTCTGCGGAGCGGGCCGCGCCCCTGGCCCGCCCGGGCTCCAAGTCCCGCGTCGCCGCCCTGGCGGGGACGGTGCAGCAGGCGGCGGGATGCGGCGGGGCGGCAGCCTGAGCGCCCCGGATGGCCCGCGGCGGGGCGGCCTGCAAGAGCGACGCGCGGCTGCTGCTGGGGCGGGACGCGCTGCGGCCGGCGCCCGCCCTGCTGGCCCCCGCCGTGCTGCTGGGCGCCGCGCTCGGCCTCGGCCTCGGCCTTTGGCTTGGCTGCCGCGCGGGCCGCCAGCGCACGCGACACCAGGTGGGTCGGCCGAGCAGACAGCGGCGGGGCGGGGAGCGCGGGGCGCGTGGCTTCTGGGTCCTGCGGGCCCGGAGCCCCGGCTCTGCGACTCCTTGAGCCTGGTTGGGAACTTCGCACGCAACCGCTTAGGCGTCGGGTTCCCCTTCTGCTCCAGGAGGGAGGTGGCGGCGTGACTAAAGGGCATTGGCCTGGGGTCCCCTGCGGTGCCTGTTACATCCCACTCCGTTGGGTGATCCTTGACAGCAGCCCAACTGCGCCACGCCTCGGTCTCCTCATCTGCAGCACCAAGGGTTTGGACAGGACGCTGGCCCTGCTCGCCATGGTGGACAGAAGGACGGCTGGGGCTCCCACGCCTGAATGCCTATTCCTGCTTCTGCCTCTTCCATCCTTGCGGTGTGGGTTACGTCGCCTGGCCTGAGTCCCAGCTGCCACATTGGCATTCATTTTTTCATTCACCCCACAGTAAAAGTTTTCAGGCACCTTCTACAGCCAGTCACTGGCCTAGGGACGACATTCATGAGCGGGAGAGACCCTGCCTTGAGGCTGTGAACCTCAAGGAGAAGGACGAATTGCAAGTTTGCAAGTAAACTATCGGTTATGACACCGCATGGGGAGTCTGCGATGGGACGCTGGCAATGCTAGCGTTTATTAAGTGCTGTGTACCAGGCACTGAACTAGACCCTCTCCCTAAATGATCTCAATGAATCTCCACAACAGTTTGTCTCTGCTTTGCAGATGAGGAAACTGAGGCACAGAGAGGTTAAGCAACTTACTAAAGTGACAGAAGTGTCTAACCCCAAAGCCACTGTGTTCTTCATGGATGAGGGTCGGGGTGGCTGCCTGAAGGAGACCAGTGGATGCTTCCTATGCAAGTGGCCCTCATGGAATTGGCTGTGCATGGCAACACCTGGCATATAGCAGGCATTCCATGAATAGTGGTATGGCCACTATTTTAGGTCCTTGCAACTTCTGCCTCTTTGGGGTGGGAGGAGAGTAAAGTCTGCGCGATCAGAAACAAGATGGCGTGGTCTTGCTACCCCCATTTCTGGCCCGTGGGAAGATGAGACAGATCTTGTGCGGTTTCCATGTAGGCACAGGCTCTTTCAGAATATAGGGGAATTTGGTGACTCATGGGGAGCATTACACCGCAAAGAGCTGATGAGGGCTGAAACTGAGATAATGCAAGATGCTCGTAGGTGAGTTGGGGGTTGTCAGATCCTGCTGGTGATTAAGAGACACTAAGAGATGCTGGCTTGTTGCATGGAGAGAGAAAGGGAAGTAACACACAGAGACTTGGCTGGGTGTCCTGTGCAATGTTTATAGACATCTGGTTCTTTATCCTCCAGCCCATGAGGTGGAGGAACTGCCATTATCCCCACTTTACAGTGAGGCAGGGGATGCTCTGCAAGGGTGTTTGTCCAGGGTGCCACGATGAGTAAACAGTGGGACTGAATTTCAACCCTAGTTGGTTTGAACCCCAAAGCTAGAGCCTTAAGTATCTGCTACCTGGTGAGGTGGTGGTTAGTATCCCATTTGCTAGCTGAGTCAGCTGAGGCTTACCGGGATTAACCAAGCCATCTGGGTTTGCACAGCTAGTCAGTTGAGGGTGATGGTGGCTCAGACCAGGGTGGCAGCCATGGAGGGGTCTGTGGCTCAAAGTAGGACTAATAGGATTTTGTTACAGTTTGATGTGATCCTTGCGACAACCTTCTTTCTAATGAGATTCTTTTCCTCCTGTCTCCTCCCTCTAGTTTTTATTTATAAAATGTATGTCAGACAATATGATTCTCCTGATTAAACACCTCCAGTGACTCCTGGCTGCCTGCAAAAGATAATGCCCAGGCTGGGCACTGTGGCTCATGCCTGTCACCCCAGCACTTTGGGAGGCCAAGGCGAGCTGTTCAA | CGGGGGAGGGCTCCACTCCCGCCAGCCTTCCTGCGGGGCAGGCTGTTAGGCTGTCTATAAAGTCTCAGGCCAGCGAGCCTGGCCCCTGGCAGCCTCTCTCCCCATAACCCAGACCATCCAAGGACAGGCCTTTCCTGACCTAACATGGACAAGGCCATGGGGTTCGAGAAGCTGAGAATTTATAAGCCAAGTTCCCCACACCAGGGGGTACGTGGCAGCTGTCAGGCATGTGACAAGACCACAGGCTAAATGCCAAGCATGTTGCTGGACCGTTGGAGTTGTTTGACAGTCAGTCATTTAAAGGTTAATTTAATAGTCAACAACTTTATGATAAAGTAAAAAGCAAATAACCCTACATTTAAAAAATCTCCTTAGTATTTTTTATGGAGTCAGGGTCTCACTATGTTGCCAAGACTGGTCTTAAACTCCTGGGCTCAGACAATCCTCCACTTGAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAACCACACCTGGCCCAAACACCACATTTTAAAAACTAAAGCCTAAGCATTCATGGAAATGTAAAACAAGAGCGTCAAGTTATTGCCCCCATACATGTCCCCAGGAACCTTGGAGATGCTTCTAAGGTAATATATAAGAAGCTCCACATAGCAGAGAGTTTGCCCTGAAGCCAGACACAGGTGTAAATGAGACAAGAATTCTGCCCCACTCCTTAATTGCAAATGAGTCACCTCTCCTCTCCAGCTGTCAGTTTCTTCATTTATTAAAAAAAGATGAAGAATTTGGATAACAGTTCCCATCTTGCCATGAGGAAATGATGAAACAAACTAGAAACAAGCTGGACATCTAGGCTGAAAGGACAAAGCCCTCCTCTGCTGAAGCAGATCCCCATGGTGTCCCCTAGCCCGGCCCACACAGGGAATTAAGCTCCACAGGGTAGGTGTGTGTGTGTGTGTGCCCCTGAGTGCAAGTGTGCAGTCGTGCATGTGCATGTGTGCTTTACCCAGGCACCCAGGACAAAAGCAAACATCTAGTAGCTACCCCATAAATGTTTGTTTAAAGCAAACACAGTGATGAACTCCTTTAATTTTTTATCACTCTAAACAACTGTGAGATACTCACTAGCCTGGACACTGCCTGGTTTGTGGCTGGCCTATCCCCCAGCCTGCAACACACACACAACAGATTCTCTCCAAGTGCTGAGTAAATGAAGGATGGTGCAGTGTCCTGGTCCTAGTGGGGAGCGGGTGTAAGGGTCTCTTTATCCATTGTCTCAGTGGGGAGTGGGTGTAAGGGTCTCTCTACCCTTGGTCCTAGTGGGGACTAGGTGTAAGGGTCTCTCTACCCATCGTCTCAGTGGGGTCTGGGTGTAAGGATCCCTTTACCCATCCTCCTAGTGGAGACTGAGTGTAACGGTGTCTCCACCCATTGTCTCGACCTTCCCTGGGACAAAATAAGATTAAAACAGGAGTCTTCGCGTGAGCAAGTTCAGAGGCGTGGAGGGCGGTGTGTTCCCGGGAAGGTTGATGGGTAGAGGTTAGGGGCAAGGGCAGGGGGTTGGAATTGCATTGATCCCAGCGTCTTCATCAGGAGGATGGGCGGAGCACCCACCGCAGAGGGTTATTGAGAAAGTTAATGAGATCATTAAGCTAAATGCGTAGCATATTCTAAGCCTCAAAAAACTTAAAGGAGCCTTCTAAGCCTCAGTAAAGTTAAAGGGGTGGAAACCGGGCCCCCCTCCGGAAGGGTCCGGGGCTGGGAGGCGCGTCTGTCTCTGGGCATGCTCAGTGCAGGGGCAGGGCTGGGGCGGGGGTGGCTGAAAGTTTTGAGCGGTGATCCAGGCTCCTCCCTCCGGCTCGGCGAAGCAGGGAAGGGGAGAGAAGCAGGAGTCGGGAGACTGCACAGGCCAGAAAGTCTGCGGAGCGGGCCGCGCCCCTGGCCCGCCCGGGCTCCAAGTCCCGCGTCGCCGCCCTGGCGGGGACGGTGCAGCAGGCGGCGGGATGCGGCGGGGCGGCAGCCTGAGCGCCCCGGATGGCCCGCGGCGGGGCGGCCTGCAAGAGCGACGCGGCTGCTGCTGGGGCGGGACGCGCTGCGGCCGGCGCCCGCCCTGCTGGCCCCCGCCGTGCTGCTGGGCGCCGCGCTCGGCCTCGGCCTCGGCCTTTGGCTTGGCTGCCGCGCGGGCCGCCAGCGCACGCGACACCAGGTGGGTCGGCCGAGCAGACAGCGGCGGGGCGGGGAGCGCGGGGCGCGTGGCTTCTGGGTCCTGCGGGCCCGGAGCCCCGGCTCTGCGACTCCTTGAGCCTGGTTGGGAACTTCGCACGCAACCGCTTAGGCGTCGGGTTCCCCTTCTGCTCCAGGAGGGAGGTGGCGGCGTGACTAAAGGGCATTGGCCTGGGGTCCCCTGCGGTGCCTGTTACATCCCACTCCGTTGGGTGATCCTTGACAGCAGCCCAACTGCGCCACGCCTCGGTCTCCTCATCTGCAGCACCAAGGGTTTGGACAGGACGCTGGCCCTGCTCGCCATGGTGGACAGAAGGACGGCTGGGGCTCCCACGCCTGAATGCCTATTCCTGCTTCTGCCTCTTCCATCCTTGCGGTGTGGGTTACGTCGCCTGGCCTGAGTCCCAGCTGCCACATTGGCATTCATTTTTTCATTCACCCCACAGTAAAAGTTTTCAGGCACCTTCTACAGCCAGTCACTGGCCTAGGGACGACATTCATGAGCGGGAGAGACCCTGCCTTGAGGCTGTGAACCTCAAGGAGAAGGACGAATTGCAAGTTTGCAAGTAAACTATCGGTTATGACACCGCATGGGGAGTCTGCGATGGGACGCTGGCAATGCTAGCGTTTATTAAGTGCTGTGTACCAGGCACTGAACTAGACCCTCTCCCTAAATGATCTCAATGAATCTCCACAACAGTTTGTCTCTGCTTTGCAGATGAGGAAACTGAGGCACAGAGAGGTTAAGCAACTTACTAAAGTGACAGAAGTGTCTAACCCCAAAGCCACTGTGTTCTTCATGGATGAGGGTCGGGGTGGCTGCCTGAAGGAGACCAGTGGATGCTTCCTATGCAAGTGGCCCTCATGGAATTGGCTGTGCATGGCAACACCTGGCATATAGCAGGCATTCCATGAATAGTGGTATGGCCACTATTTTAGGTCCTTGCAACTTCTGCCTCTTTGGGGTGGGAGGAGAGTAAAGTCTGCGCGATCAGAAACAAGATGGCGTGGTCTTGCTACCCCCATTTCTGGCCCGTGGGAAGATGAGACAGATCTTGTGCGGTTTCCATGTAGGCACAGGCTCTTTCAGAATATAGGGGAATTTGGTGACTCATGGGGAGCATTACACCGCAAAGAGCTGATGAGGGCTGAAACTGAGATAATGCAAGATGCTCGTAGGTGAGTTGGGGGTTGTCAGATCCTGCTGGTGATTAAGAGACACTAAGAGATGCTGGCTTGTTGCATGGAGAGAGAAAGGGAAGTAACACACAGAGACTTGGCTGGGTGTCCTGTGCAATGTTTATAGACATCTGGTTCTTTATCCTCCAGCCCATGAGGTGGAGGAACTGCCATTATCCCCACTTTACAGTGAGGCAGGGGATGCTCTGCAAGGGTGTTTGTCCAGGGTGCCACGATGAGTAAACAGTGGGACTGAATTTCAACCCTAGTTGGTTTGAACCCCAAAGCTAGAGCCTTAAGTATCTGCTACCTGGTGAGGTGGTGGTTAGTATCCCATTTGCTAGCTGAGTCAGCTGAGGCTTACCGGGATTAACCAAGCCATCTGGGTTTGCACAGCTAGTCAGTTGAGGGTGATGGTGGCTCAGACCAGGGTGGCAGCCATGGAGGGGTCTGTGGCTCAAAGTAGGACTAATAGGATTTTGTTACAGTTTGATGTGATCCTTGCGACAACCTTCTTTCTAATGAGATTCTTTTCCTCCTGTCTCCTCCCTCTAGTTTTTATTTATAAAATGTATGTCAGACAATATGATTCTCCTGATTAAACACCTCCAGTGACTCCTGGCTGCCTGCAAAAGATAATGCCCAGGCTGGGCACTGTGGCTCATGCCTGTCACCCCAGCACTTTGGGAGGCCAAGGCGAGCTGTTCAANN | pathogenic | 79,720 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 4, position 5719274, gene EVC (EvC ciliary complex subunit 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | TCAATTTTGAAGAGTCATTTTTTTGTTCTGAGAATGTTCTATCCTGTCCTTATTTTATGAATGGAATACCTTCTCTGATCTCTCTGATAATATTTTAGTTGTTTATTTGTTTAAAGTTTTTTTTCCCTGTGTAGTGCGTTCCCTGCTTGCTTTTTCCTTTTGTTTGTTTTGGATTTTATCTTTCATATTAGAGTCTGTCCTCAAATGGCTAGTGACCCTCTAGACATTTTCAAGTGATGCTGATGCTCCCTCTGTGGGATATATATATTTTTTCCTCAATGTCTTTACTGTAGGACTATCTGACTGGGTTCTTCTTTGCAGGACCCTTGTACTGGTCTGCTATGGTTGGTAAACAACCCCCCAAATCTCTGGCTTCATCATCCACCCCAAGACCCACGACAGACTGCTGCATCTACACAGGTTTCTCTCTATGCCCAGCATGGGCCTGCCTCCAAGGCCTTTGCACTTGCTATTCTGTCTCTAGAATGCTCCTCCCTGAGATATCTCAATGGCTCATGGCCTCACTTCTTTTAAGTTCCTTCTCAAATGCCGCTTTGTCCAAGAGACTTTGTCTCCCATCATCCTTCATTCCCCCACCCTCCACTGTTACTCTAGGACATGATTGTCCCTGAATTGCTATGTATTTTTTCATTTGTTTGCCTCTTTCTTCTCTCACTGCAATGTCAATGCCACAAAAGCAGAGGCTGTGTATTTTGTTCGTTACTCTATTCCCAGTACCTAGAACAAGGCCTGACACAAAGCAGATGCTCGATAATAGTAGCTGATTAACTCAGTGACAAACTGGTGATGTTTCTTTAGTGCAAAGATTATATTCATGAGCAGGTAGTGATTAAAGGGGAAGTTGAGAAGTGTCTGGGATAACAGAGTTTTAAATATAGTCTACTCTCCTTATTCATGGTAGTTATGTTCTGTAAACTCACTGAGAACACAGCATTAGCGAACACTGAACCGTTGTTCCTGGGGGGAAAACAGGGTTAGGTTCCTACAAGCCTCTGGTCACAACATTTCCATTAACCAGTCAATACATAGCATAGTTTTATGTATGTTTCTGTTTAAAGATATCTTATTTAATAGATATTTTTAATTTATTAACATTGGACTCACAGACATCAGCTCTGTAACTCACACCTGAATGAAGCTTCTGTAACACACCCATTTCTCCAGAGGGCATGTCATAGTTTTCTTGTGTTTCGGGAGACTAGACAGCACTTCTGCACTGTGTTTGGTGGTTATTTTAAACAGTAAAGTCACCGAGAAAAAGCACAGAAATGCAAAAACTGTGCTACTAGAGTATGAAAAGGATGTTTGTTTACAGCATGAGAGCAGAGACAAGAAGGCAGAGTGCTACTTTGTTCCATCTCAACTGAGCACGTGCATGCTGGGCAACTCAGATTGTTCATGCTCTGCATGTATTTGTGAATAACTGTAAAAGCGCCATGAGCATTGGTTTGGGGGTTCTAAATAAATATTAGCAAGTACAGGAATTGGCAAATACAGAATCCATAAATAATGAGCATTCATTGTAGTTCAGAATAGAAACTACTCTATAACTTAAGGTCACCTAACATATTGTCTTAAAAACCATTCAATAGAATGATCAAGATCAACAGGAAAATTATATGCATGTGCCATTTCTCATGCTTAGTTGTTAAATCCAAAGAGCTCCCAGTCCAATGGGGTCCCCAACCTAGAAGAAAAATGGAACGAGCTTTGCTCTGCCTCTTGCCTCAAGTCCTGAGGGTGCACTGAAATGGGGCATCCTGGAGGCCTTAGGGGAACCGCTCAGGAAGGTGACCTGTGCAGTCTTGAAGGACATGTAGCGGACCCCACGTGGGGTGGGAGGCGTCACACACAGAAGACCAAGCTTGAGAAGCACAGAGGCGAGCAGAAGTGGCTGCTGGACTGGGGGAGTTGACTGGCAAAAGTCACGGTGGGGACCAGGCCGACTGACCTCAATGTTGTGTTTCTATCCACCCCCAACTCCTGACCTTCGGGTTTTAGAAAGACGACACTCAAAATCTGCTCAAGAATTTGGAGTCTAATGCGCAGACCCCCTCGGAAACTGGCTCCCCATCAAGGAGGAGGAAGAGAGAAGTGCAGATGTCGAAGGACAAGGAAGCTGTTGATGTAAGCTTGGTGTTGATGTTTGTTTGTGGAGGCACATGTGGGAGGTGGGGTATTCCCCCTGGAAGCCGGGTGTCATGTAGACAAGCCTCTGACAGATATAGTTTCCCAATGGGCTGCTTTTCTGAGGCATAATTTACATACAGTCAAATGCGCAGACTTTAGGTTTTACAGTTTGATGAGTTTTGACAATTGCATGCCCCTTAGAACAAATACCCCCCTGAGAATGTTTTCATCACCCAGCAAGTCCTCTAGTGCCCCTTTCTGGTCACTTCCCGCCCCCACACACTTCCAGAGGTGCCCATGCGTGGGATTTCCATTGATTGGTTCTGCAGTTCTGGAACCTTATGCAAATGGAATTGTGCTGTTCTGTGCCTGTGTTCCCTCCACAGAATGCCTTAAGATGTTTCCCTTTCGTTGTGTGTATCAATAATTCACCCATTTTTATTGCTCAGTGGCAGTCAACTGTGTGGATGTGCCACACTTTGTTGATTGCTCACTGTTTGTGTGTATTTCATTGGCAGACCGGGCTGTTTTCAGAATTTGACTGTAATGAATAAGCCTACTATGAATGTTGGTGCATAAGTCTGTTTATTTTCATTTCATTTTACTTCCTTTAATTAAATCTCTGGGGGTGGGGGTGCTGGGCCTCTGGAAGAGATGTTAAAAAAATTCTATTTGTTCCTGCCTTCCTGGAACCCTTCCTCTATCCACAGAACATCGCTTTCTGGGTGAGCCCCGTGGGTGGAGAGGATGTGACATTTCTAGTCACCTCCTTGTCCCCTAGGAAGTACTGCAGGCTTCATCTTCTGGAATAAGGGGAAGAGATGGAACTAGCATTATTTTTTAGCATCACTCATGCCAGGCAGTTTTACACCTCTCACCTGTGAGTGATGCCAACACTCACGTGAATGATCTCGTGCCCTTCTCTCAGCAGCCACGTGAGGCTGATCTGATTTATATTCCCATTTTCCAGATGAGGAAGCCGAGGCTCAGAGGTAGGCTGCTTTCCTGAGTCCCGCAGCTGGGGGAGTAGCCAAGCTGATATTTGTCCTTGGGTTTGCCAGGCCCCTGCTCCAGAGTGCTGCGTCCCCACACCCAACTTCTAGCCTCTGCTCCTTTCCAACCTGTTCCATCCTGTTCCGCAGCCTTAGCTTACCACAGAAGAAAGTGGGCTCGGGATATAAAAACGGATTTCCCCAAAGGTCCGACGTCAGTAGGGCTCAGCTTCTAGTTACTCTGAACAATCAGCTTTTGCGTTAGCCCTGCATCTCCCTCCCTGGCTGGTGGGATCCCTGTAGAGGGGGGCATTGCCCTGCCCTTGGCCAACGTGGACGGGGGGAGAGATGGGGAAGCCTCTGCTGCTATCCCGGGACATGGCTTGCAGGAGATGAGTCTGGAACAAGCAGATGTTTAACTTTACCGTTGGTAATTATTATCTTGATAATGGGCATCTGCTAGGTGTAGCTAAATAGTGAACAGGTAAGACATTACTAGGCAGGAAAATATGAGTTAACTTTACAGCAGGGTAAAAAGACTTAGGTCTCCCTCCAAACACTGATTGAGCCCCTATTTGAATGTGCCCTGTGCTGTCTCTGACACTGTGTGCTTGCCTCTCCACGTGTGTCTGTGTATGTCCCAGTCCATCACTCTCTCATGTGTCTCTGTGGGTCTTTCTGTGTGCATCTTTGTGACAGTACGTGAGCTTCAGGTGCATGGCATCTCCCTGTCTCTGTGTCTCTCTTCCCCTCCTCTCTCTCTACTGCTGTGCCCCCTCCCACCCTCTCACACTACTAGAATCTGCTGACAGATGTGAAAACATGTCCACCCAAAAACTTGTACACAAATGTTCAAAGCAACACTATTCACAATAGCCAAAATGTGGAAACAACCCAAATAGAAAAACTGGAAAAATAAAATGTGATATATGCAGACATTGGAAGGTTATTTG | TCAATTTTGAAGAGTCATTTTTTTGTTCTGAGAATGTTCTATCCTGTCCTTATTTTATGAATGGAATACCTTCTCTGATCTCTCTGATAATATTTTAGTTGTTTATTTGTTTAAAGTTTTTTTTCCCTGTGTAGTGCGTTCCCTGCTTGCTTTTTCCTTTTGTTTGTTTTGGATTTTATCTTTCATATTAGAGTCTGTCCTCAAATGGCTAGTGACCCTCTAGACATTTTCAAGTGATGCTGATGCTCCCTCTGTGGGATATATATATTTTTTCCTCAATGTCTTTACTGTAGGACTATCTGACTGGGTTCTTCTTTGCAGGACCCTTGTACTGGTCTGCTATGGTTGGTAAACAACCCCCCAAATCTCTGGCTTCATCATCCACCCCAAGACCCACGACAGACTGCTGCATCTACACAGGTTTCTCTCTATGCCCAGCATGGGCCTGCCTCCAAGGCCTTTGCACTTGCTATTCTGTCTCTAGAATGCTCCTCCCTGAGATATCTCAATGGCTCATGGCCTCACTTCTTTTAAGTTCCTTCTCAAATGCCGCTTTGTCCAAGAGACTTTGTCTCCCATCATCCTTCATTCCCCCACCCTCCACTGTTACTCTAGGACATGATTGTCCCTGAATTGCTATGTATTTTTTCATTTGTTTGCCTCTTTCTTCTCTCACTGCAATGTCAATGCCACAAAAGCAGAGGCTGTGTATTTTGTTCGTTACTCTATTCCCAGTACCTAGAACAAGGCCTGACACAAAGCAGATGCTCGATAATAGTAGCTGATTAACTCAGTGACAAACTGGTGATGTTTCTTTAGTGCAAAGATTATATTCATGAGCAGGTAGTGATTAAAGGGGAAGTTGAGAAGTGTCTGGGATAACAGAGTTTTAAATATAGTCTACTCTCCTTATTCATGGTAGTTATGTTCTGTAAACTCACTGAGAACACAGCATTAGCGAACACTGAACCGTTGTTCCTGGGGGGAAAACAGGGTTAGGTTCCTACAAGCCTCTGGTCACAACATTTCCATTAACCAGTCAATACATAGCATAGTTTTATGTATGTTTCTGTTTAAAGATATCTTATTTAATAGATATTTTTAATTTATTAACATTGGACTCACAGACATCAGCTCTGTAACTCACACCTGAATGAAGCTTCTGTAACACACCCATTTCTCCAGAGGGCATGTCATAGTTTTCTTGTGTTTCGGGAGACTAGACAGCACTTCTGCACTGTGTTTGGTGGTTATTTTAAACAGTAAAGTCACCGAGAAAAAGCACAGAAATGCAAAAACTGTGCTACTAGAGTATGAAAAGGATGTTTGTTTACAGCATGAGAGCAGAGACAAGAAGGCAGAGTGCTACTTTGTTCCATCTCAACTGAGCACGTGCATGCTGGGCAACTCAGATTGTTCATGCTCTGCATGTATTTGTGAATAACTGTAAAAGCGCCATGAGCATTGGTTTGGGGGTTCTAAATAAATATTAGCAAGTACAGGAATTGGCAAATACAGAATCCATAAATAATGAGCATTCATTGTAGTTCAGAATAGAAACTACTCTATAACTTAAGGTCACCTAACATATTGTCTTAAAAACCATTCAATAGAATGATCAAGATCAACAGGAAAATTATATGCATGTGCCATTTCTCATGCTTAGTTGTTAAATCCAAAGAGCTCCCAGTCCAATGGGGTCCCCAACCTAGAAGAAAAATGGAACGAGCTTTGCTCTGCCTCTTGCCTCAAGTCCTGAGGGTGCACTGAAATGGGGCATCCTGGAGGCCTTAGGGGAACCGCTCAGGAAGGTGACCTGTGCAGTCTTGAAGGACATGTAGCGGACCCCACGTGGGGTGGGAGGCGTCACACACAGAAGACCAAGCTTGAGAAGCACAGAGGCGAGCAGAAGTGGCTGCTGGACTGGGGGAGTTGACTGGCAAAAGTCACGGTGGGGACCAGGCCGACTGACCTCAATGTTGTGTTTCTATCCACCCCCAACTCCTGACCTTCGGGTTTTAGAAAGACGACACTCAAAATCTGCTCAAGATTTGGAGTCTAATGCGCAGACCCCCTCGGAAACTGGCTCCCCATCAAGGAGGAGGAAGAGAGAAGTGCAGATGTCGAAGGACAAGGAAGCTGTTGATGTAAGCTTGGTGTTGATGTTTGTTTGTGGAGGCACATGTGGGAGGTGGGGTATTCCCCCTGGAAGCCGGGTGTCATGTAGACAAGCCTCTGACAGATATAGTTTCCCAATGGGCTGCTTTTCTGAGGCATAATTTACATACAGTCAAATGCGCAGACTTTAGGTTTTACAGTTTGATGAGTTTTGACAATTGCATGCCCCTTAGAACAAATACCCCCCTGAGAATGTTTTCATCACCCAGCAAGTCCTCTAGTGCCCCTTTCTGGTCACTTCCCGCCCCCACACACTTCCAGAGGTGCCCATGCGTGGGATTTCCATTGATTGGTTCTGCAGTTCTGGAACCTTATGCAAATGGAATTGTGCTGTTCTGTGCCTGTGTTCCCTCCACAGAATGCCTTAAGATGTTTCCCTTTCGTTGTGTGTATCAATAATTCACCCATTTTTATTGCTCAGTGGCAGTCAACTGTGTGGATGTGCCACACTTTGTTGATTGCTCACTGTTTGTGTGTATTTCATTGGCAGACCGGGCTGTTTTCAGAATTTGACTGTAATGAATAAGCCTACTATGAATGTTGGTGCATAAGTCTGTTTATTTTCATTTCATTTTACTTCCTTTAATTAAATCTCTGGGGGTGGGGGTGCTGGGCCTCTGGAAGAGATGTTAAAAAAATTCTATTTGTTCCTGCCTTCCTGGAACCCTTCCTCTATCCACAGAACATCGCTTTCTGGGTGAGCCCCGTGGGTGGAGAGGATGTGACATTTCTAGTCACCTCCTTGTCCCCTAGGAAGTACTGCAGGCTTCATCTTCTGGAATAAGGGGAAGAGATGGAACTAGCATTATTTTTTAGCATCACTCATGCCAGGCAGTTTTACACCTCTCACCTGTGAGTGATGCCAACACTCACGTGAATGATCTCGTGCCCTTCTCTCAGCAGCCACGTGAGGCTGATCTGATTTATATTCCCATTTTCCAGATGAGGAAGCCGAGGCTCAGAGGTAGGCTGCTTTCCTGAGTCCCGCAGCTGGGGGAGTAGCCAAGCTGATATTTGTCCTTGGGTTTGCCAGGCCCCTGCTCCAGAGTGCTGCGTCCCCACACCCAACTTCTAGCCTCTGCTCCTTTCCAACCTGTTCCATCCTGTTCCGCAGCCTTAGCTTACCACAGAAGAAAGTGGGCTCGGGATATAAAAACGGATTTCCCCAAAGGTCCGACGTCAGTAGGGCTCAGCTTCTAGTTACTCTGAACAATCAGCTTTTGCGTTAGCCCTGCATCTCCCTCCCTGGCTGGTGGGATCCCTGTAGAGGGGGGCATTGCCCTGCCCTTGGCCAACGTGGACGGGGGGAGAGATGGGGAAGCCTCTGCTGCTATCCCGGGACATGGCTTGCAGGAGATGAGTCTGGAACAAGCAGATGTTTAACTTTACCGTTGGTAATTATTATCTTGATAATGGGCATCTGCTAGGTGTAGCTAAATAGTGAACAGGTAAGACATTACTAGGCAGGAAAATATGAGTTAACTTTACAGCAGGGTAAAAAGACTTAGGTCTCCCTCCAAACACTGATTGAGCCCCTATTTGAATGTGCCCTGTGCTGTCTCTGACACTGTGTGCTTGCCTCTCCACGTGTGTCTGTGTATGTCCCAGTCCATCACTCTCTCATGTGTCTCTGTGGGTCTTTCTGTGTGCATCTTTGTGACAGTACGTGAGCTTCAGGTGCATGGCATCTCCCTGTCTCTGTGTCTCTCTTCCCCTCCTCTCTCTCTACTGCTGTGCCCCCTCCCACCCTCTCACACTACTAGAATCTGCTGACAGATGTGAAAACATGTCCACCCAAAAACTTGTACACAAATGTTCAAAGCAACACTATTCACAATAGCCAAAATGTGGAAACAACCCAAATAGAAAAACTGGAAAAATAAAATGTGATATATGCAGACATTGGAAGGTTATTTGN | pathogenic | 79,730 |
A mutation at chromosome position 5731431 on chromosome 4 in gene EVC (EvC ciliary complex subunit 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | AGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACTTCCGTCATGTGCCAGAGATTGGGAGGAAAGTGGGGGGATTAACTGTGTGATGTTTGGTCCTGTTTGAGGGTTTTATGGCAAGTCATTTTAGTAGGGATAGTTTTGAGGCTCAGGAACAGGACATGCCCATGGTAACCACGGTACGGAAGTTCCATGGTTCCTTGTATCCCCAGGGACACGAGGTAACAGCACAGTAGGACAGCTCCCTCTCTGCCTTTTTAACACTAATACAAACACTGATACCGACTCAGTTCTGAGCGCTAATCCTCATTCACAGAGCCCTGGACTAATAATGCCAGCAGCTGGCACTTACTGAACACTTATGTGGACAGGGCCAGTGTTGTGTTAAGTATTTGTCATGCATCAGGCGTTTCAACTTGGTGTTATGCCTATCAGGTAAATAATGTCTCCACTTTACACGTAAGGAAACTGAGGCCCAGAGAGGCGAGTGACCTGAGGTCACGTGACAGGAAGTGGCAGAGCCAGAGTCAGACCCCAACACCTGGCTATGGTTACACCTTCCATGGCGCTTCCAGGAGCCCTCAGCCTGGGAGGTGCTTTGTGCAAAAAAGTTTCCTAGTGAAATAAGTTTGGGAAAATGTGGCTTGCTTTCTTGGTATTCAGGATGACGAGCTCTGGAGTCACAGCATCTCAGTCCTAACCCCATCTCAGCCATTCACTGTGTGGCGTTTCCTGACTTCTCCTGCCTCAGTCTGTTTATCTGTCAAATGGGGATGATGGTGCTCCTGCCTCGCCCAGTTGTTTTGGGTGTTACACAAGATAACATACATGAGGGCTCAGAACAGTGCACAACATCTGAGCACTCACAACATGTTAGGATCTTGTCAATTATTATTTGCTTTTGAAGACACCCAAAGCCTATTGGAGGTTCTGAGAATTCCTGCACCAAAGGAATATTTCACCTTGTTTAACACAAGCTTTACCGAACTAATTTTTCCATGGAAACTTTGTGGTGAGCAGTAACTGGCTCAAGGAGCTGTTCCCTGGAACCCACATTGGGAACCACATCCTTCACGTGGTTGAAGGGTGGGACGGGTGGGTGGATGAAGGGCATTTCTCCATCCTCTGGGTAGGCCCTGCGTGGGCCCTGGGGATCACGCCATAGTCAGCAGAGCGTCAGCCCCACCCTGGAGGCCCTCACTGCCTGAGTGGATTGAAATACACCGAGAATGCAGGACAGTGCATGATGAAATAGGCAAGAGGCAGATCCCCAGGGACCTGTGGAGCCAGTATGGGGTCCAGGATCCACGCCTGGAGGAAGGGACGCTTCTGCCCAGCAAACAACAAATGGGGGGTGTTTCAGGTAGGGGGACCAAAGTCTGGAAAGGCCAGAATTATGAAGTCACCAGGAGCGTCTAAGCCAGAGCCACTTCACTGTGGCTCGGGCAGCCAGAGGTGGAGGCTGACATTTGCTGGGCCCTCTAGCCATGCCAGGCCCCAGGCTGTGACCTCCTGTGGGCGTGGTGTGCATGGTGTGCATGGTGTTCCAGCTTCTTGATTAGGAGCGTGGAGCCTGTCGGTGGGCAGAGGGCAGGAGGGTGACTCCTGCTCTGTGCAGGCGAAGGACAGGTGGTTGGCAGGATTCGTGGAGGGAGCAGGCCAGGGGGTCAGCAGCAAGGAGAGAACTGGGTCAGGGCAAGCGGTGGCTATGGAGGAGGTAGGTCAGAGTTGGCAGCTGGGAGGAGGGTGCGCTGGGTGTCCGGGGCACAGATCCAGGTTGGCAGTTTAGGGGAAGGAACCTGGTGCAGAGGGGCTGGCCTTGTGAGGACAAGTGAACTGTGATTCGGGCCTCTGGGCTGTCGATGTGGCAGAACCTGGGACGGAAACTCTGTGGTGTCTGCTGGCACCCTGGCCAGTCTCCTCCAGGCAGACCTTCCTGTGAGCGGCTAGCGTGAATCACTGGTAGAATTATGAATACTAGATCAAATCCCAGAGGCATCACATGGACTGAGTGTGACTCCTACTGCCACCCCAGCCTCTGGCCGATGGCTCCTCCAACCCGTCTCTGCATGAAAACTTAAAGCAGGCTGTTTTGCCACACCAGCCGGTAGAGGCCTCTCCTTCCAGCAGTCTGGGGAGCCTGAGCCAGGGTGAGAAGGACGACTGCAGCTCCTCATCCAGCGTCCACTCGGCCACCAGCGATGACAGGTTTCTCAGCCGCACCTTCCTCCGGGTGAACGCCTTCCCTGAAGTGCTGGCCTGCGAGAGGTAAGGAGAGCGGGCAATGGAGGATGAGGCTTCCAGTCCTCTTGGAGTGGGCCGGGAGTCACATCATTGTCAGAGGAGGAAACAGAGGCCCAGAGAGGTTCAGTGACTCTGCCAGGGACACACAGCGACCCAGCGTCACCATCGGAGCCCCAGAGGCCTTTGTCACTTCCTGTGCTGTATTGCCCAACACTGGGGTTATGGAGTCAGGCCTGAGCCCCGGGGAGAGATGACAGGGAGGCCTCATTTAATCACTGGCGTGCTCCCAGCTACTGGCGAAGTTGATTAAGTGGGTACTTCTGAGTACCGGGCAGAGTGCTAAGCACTTTACAGGGATTGATGATCTCATGAGGATTTTGCCCAGTGAGGGGGATCCTGGGACAAGTTCAGCAATCAGTAAATATTAATCAGTGAGTGAATGAATTCCGTTTAACACCCCTATGAAGTTGGTACTGTCATTTCCTCCAGTTCACAAAGAATAAAGGGAAACACAGAGAGGCTGCGTGACTTGCTGGTCACACAGCCGTGAGTGACGGAGCCGGATTTGACCCAACCCAGAGCAGGGCTCCGCACGTGGTGGGGGCTTAAGAAGCTCAGTCTGGCGGGTTCACACACCAGGCCTCAGGCCTCTCTCTGCTCCAAAATTCCGCTGAGTCCAAGAGGTGGGATGATCCAGGGCACAGCCTCTGCTCAGAGTTGCTGCAGAAACACTGGGCTCAGCACCTTGAGCCTGAAAGTGGCCCAGGCAGAAGGGACTTCGTTGAAGAGGGGCCTTCTTGGACTGGCCAGCCCTGGCTTAGAACGGCTTGCTTTCAGCATTTGGGACTTAGAGGATTTGAAACGGTTTGGGTGGGAGAGTCATCATTTAAAATGCATTTGCCTATGAGGGAAAAAAGGTCAAAGACTTTTACACTCTGCCATGTATCTGCCCCCGTTGACCCTATGATGGTCACTTGATTTGTCTGATTCTCTCTTCCCTGAGTCAGTTTCTGCATCTGTAAAATGGGCATGAGAATGTCTCTGCTAAGGCACCGAGGAAAGGTGACACGTGATGATAGACATGAAAATGCTTGAGGTTGGGCACCATGGCTCATGCCTGTAATCCCAACATTTGGGAGGCCAAGGTGGGTGGATTGCTTGAGCTCGGGAGTTTAAGACCAGCCCAGGCAACATAGTGAGACCCCATCTCTAAAATAAAATCCAAAATCAACCGGGTATGGTGGTGCATGCCTGTAGTCCGAGCTACACGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCGGGAGGTGGAGGCTGCAGTAAGCCGTGATTGTACCACTGCACTCCAGCCTGGGAGACAGAGCAAAACCCTATTTCTAAAAAGATAAGTAAATAAATTTTTTTTTAGAAAATACTCAAAGGAGGAAACGTCATTTTTATTTCTCTCCCTTCCCTCTCTCCATTGGTTTTCTCTTGGAAGTCCCAGGCACCTATGTCTCTGACACCAACTGTTCTCTTATGGCCATTAGTGGGTTTCAAACAGCTCATTTGATCCCTTCTTATAAACCTGGAGTGAGCGTAAGGACCTCAGCATGCTGCAGAATGAGAGTTTGAGGCAGGGTGTGCTGTGGCTTGTACTGATGAGGGACGTGCCAATATTCTTACTCTTCATTTCCGATACCCTGAAAGTCTTTTCCGCTTCTCATTTTATTTTGCAGTGTAGACGTTGACCTGTGTATCTACAGCCTTCACTTAAAAGACCTGCTGCATTTGGACACGGCACTGAGGCAGGAAAAGCATATGGTAGGTGGAGATGTTCGCATTCCCTCCTTTTCATGGGGACAGG | AGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACTTCCGTCATGTGCCAGAGATTGGGAGGAAAGTGGGGGGATTAACTGTGTGATGTTTGGTCCTGTTTGAGGGTTTTATGGCAAGTCATTTTAGTAGGGATAGTTTTGAGGCTCAGGAACAGGACATGCCCATGGTAACCACGGTACGGAAGTTCCATGGTTCCTTGTATCCCCAGGGACACGAGGTAACAGCACAGTAGGACAGCTCCCTCTCTGCCTTTTTAACACTAATACAAACACTGATACCGACTCAGTTCTGAGCGCTAATCCTCATTCACAGAGCCCTGGACTAATAATGCCAGCAGCTGGCACTTACTGAACACTTATGTGGACAGGGCCAGTGTTGTGTTAAGTATTTGTCATGCATCAGGCGTTTCAACTTGGTGTTATGCCTATCAGGTAAATAATGTCTCCACTTTACACGTAAGGAAACTGAGGCCCAGAGAGGCGAGTGACCTGAGGTCACGTGACAGGAAGTGGCAGAGCCAGAGTCAGACCCCAACACCTGGCTATGGTTACACCTTCCATGGCGCTTCCAGGAGCCCTCAGCCTGGGAGGTGCTTTGTGCAAAAAAGTTTCCTAGTGAAATAAGTTTGGGAAAATGTGGCTTGCTTTCTTGGTATTCAGGATGACGAGCTCTGGAGTCACAGCATCTCAGTCCTAACCCCATCTCAGCCATTCACTGTGTGGCGTTTCCTGACTTCTCCTGCCTCAGTCTGTTTATCTGTCAAATGGGGATGATGGTGCTCCTGCCTCGCCCAGTTGTTTTGGGTGTTACACAAGATAACATACATGAGGGCTCAGAACAGTGCACAACATCTGAGCACTCACAACATGTTAGGATCTTGTCAATTATTATTTGCTTTTGAAGACACCCAAAGCCTATTGGAGGTTCTGAGAATTCCTGCACCAAAGGAATATTTCACCTTGTTTAACACAAGCTTTACCGAACTAATTTTTCCATGGAAACTTTGTGGTGAGCAGTAACTGGCTCAAGGAGCTGTTCCCTGGAACCCACATTGGGAACCACATCCTTCACGTGGTTGAAGGGTGGGACGGGTGGGTGGATGAAGGGCATTTCTCCATCCTCTGGGTAGGCCCTGCGTGGGCCCTGGGGATCACGCCATAGTCAGCAGAGCGTCAGCCCCACCCTGGAGGCCCTCACTGCCTGAGTGGATTGAAATACACCGAGAATGCAGGACAGTGCATGATGAAATAGGCAAGAGGCAGATCCCCAGGGACCTGTGGAGCCAGTATGGGGTCCAGGATCCACGCCTGGAGGAAGGGACGCTTCTGCCCAGCAAACAACAAATGGGGGGTGTTTCAGGTAGGGGGACCAAAGTCTGGAAAGGCCAGAATTATGAAGTCACCAGGAGCGTCTAAGCCAGAGCCACTTCACTGTGGCTCGGGCAGCCAGAGGTGGAGGCTGACATTTGCTGGGCCCTCTAGCCATGCCAGGCCCCAGGCTGTGACCTCCTGTGGGCGTGGTGTGCATGGTGTGCATGGTGTTCCAGCTTCTTGATTAGGAGCGTGGAGCCTGTCGGTGGGCAGAGGGCAGGAGGGTGACTCCTGCTCTGTGCAGGCGAAGGACAGGTGGTTGGCAGGATTCGTGGAGGGAGCAGGCCAGGGGGTCAGCAGCAAGGAGAGAACTGGGTCAGGGCAAGCGGTGGCTATGGAGGAGGTAGGTCAGAGTTGGCAGCTGGGAGGAGGGTGCGCTGGGTGTCCGGGGCACAGATCCAGGTTGGCAGTTTAGGGGAAGGAACCTGGTGCAGAGGGGCTGGCCTTGTGAGGACAAGTGAACTGTGATTCGGGCCTCTGGGCTGTCGATGTGGCAGAACCTGGGACGGAAACTCTGTGGTGTCTGCTGGCACCCTGGCCAGTCTCCTCCAGGCAGACCTTCCTGTGAGCGGCTAGCGTGAATCACTGGTAGAATTATGAATACTAGATCAAATCCCAGAGGCATCACATGGACTGAGTGTGACTCCTACTGCCACCCCAGCCTCTGGCGATGGCTCCTCCAACCCGTCTCTGCATGAAAACTTAAAGCAGGCTGTTTTGCCACACCAGCCGGTAGAGGCCTCTCCTTCCAGCAGTCTGGGGAGCCTGAGCCAGGGTGAGAAGGACGACTGCAGCTCCTCATCCAGCGTCCACTCGGCCACCAGCGATGACAGGTTTCTCAGCCGCACCTTCCTCCGGGTGAACGCCTTCCCTGAAGTGCTGGCCTGCGAGAGGTAAGGAGAGCGGGCAATGGAGGATGAGGCTTCCAGTCCTCTTGGAGTGGGCCGGGAGTCACATCATTGTCAGAGGAGGAAACAGAGGCCCAGAGAGGTTCAGTGACTCTGCCAGGGACACACAGCGACCCAGCGTCACCATCGGAGCCCCAGAGGCCTTTGTCACTTCCTGTGCTGTATTGCCCAACACTGGGGTTATGGAGTCAGGCCTGAGCCCCGGGGAGAGATGACAGGGAGGCCTCATTTAATCACTGGCGTGCTCCCAGCTACTGGCGAAGTTGATTAAGTGGGTACTTCTGAGTACCGGGCAGAGTGCTAAGCACTTTACAGGGATTGATGATCTCATGAGGATTTTGCCCAGTGAGGGGGATCCTGGGACAAGTTCAGCAATCAGTAAATATTAATCAGTGAGTGAATGAATTCCGTTTAACACCCCTATGAAGTTGGTACTGTCATTTCCTCCAGTTCACAAAGAATAAAGGGAAACACAGAGAGGCTGCGTGACTTGCTGGTCACACAGCCGTGAGTGACGGAGCCGGATTTGACCCAACCCAGAGCAGGGCTCCGCACGTGGTGGGGGCTTAAGAAGCTCAGTCTGGCGGGTTCACACACCAGGCCTCAGGCCTCTCTCTGCTCCAAAATTCCGCTGAGTCCAAGAGGTGGGATGATCCAGGGCACAGCCTCTGCTCAGAGTTGCTGCAGAAACACTGGGCTCAGCACCTTGAGCCTGAAAGTGGCCCAGGCAGAAGGGACTTCGTTGAAGAGGGGCCTTCTTGGACTGGCCAGCCCTGGCTTAGAACGGCTTGCTTTCAGCATTTGGGACTTAGAGGATTTGAAACGGTTTGGGTGGGAGAGTCATCATTTAAAATGCATTTGCCTATGAGGGAAAAAAGGTCAAAGACTTTTACACTCTGCCATGTATCTGCCCCCGTTGACCCTATGATGGTCACTTGATTTGTCTGATTCTCTCTTCCCTGAGTCAGTTTCTGCATCTGTAAAATGGGCATGAGAATGTCTCTGCTAAGGCACCGAGGAAAGGTGACACGTGATGATAGACATGAAAATGCTTGAGGTTGGGCACCATGGCTCATGCCTGTAATCCCAACATTTGGGAGGCCAAGGTGGGTGGATTGCTTGAGCTCGGGAGTTTAAGACCAGCCCAGGCAACATAGTGAGACCCCATCTCTAAAATAAAATCCAAAATCAACCGGGTATGGTGGTGCATGCCTGTAGTCCGAGCTACACGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCGGGAGGTGGAGGCTGCAGTAAGCCGTGATTGTACCACTGCACTCCAGCCTGGGAGACAGAGCAAAACCCTATTTCTAAAAAGATAAGTAAATAAATTTTTTTTTAGAAAATACTCAAAGGAGGAAACGTCATTTTTATTTCTCTCCCTTCCCTCTCTCCATTGGTTTTCTCTTGGAAGTCCCAGGCACCTATGTCTCTGACACCAACTGTTCTCTTATGGCCATTAGTGGGTTTCAAACAGCTCATTTGATCCCTTCTTATAAACCTGGAGTGAGCGTAAGGACCTCAGCATGCTGCAGAATGAGAGTTTGAGGCAGGGTGTGCTGTGGCTTGTACTGATGAGGGACGTGCCAATATTCTTACTCTTCATTTCCGATACCCTGAAAGTCTTTTCCGCTTCTCATTTTATTTTGCAGTGTAGACGTTGACCTGTGTATCTACAGCCTTCACTTAAAAGACCTGCTGCATTTGGACACGGCACTGAGGCAGGAAAAGCATATGGTAGGTGGAGATGTTCGCATTCCCTCCTTTTCATGGGGACAGGN | pathogenic | 79,747 |
Variant at chromosome position 5733430, chromosome 4, gene EVC (EvC ciliary complex subunit 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | GAGGCATCACATGGACTGAGTGTGACTCCTACTGCCACCCCAGCCTCTGGCCGATGGCTCCTCCAACCCGTCTCTGCATGAAAACTTAAAGCAGGCTGTTTTGCCACACCAGCCGGTAGAGGCCTCTCCTTCCAGCAGTCTGGGGAGCCTGAGCCAGGGTGAGAAGGACGACTGCAGCTCCTCATCCAGCGTCCACTCGGCCACCAGCGATGACAGGTTTCTCAGCCGCACCTTCCTCCGGGTGAACGCCTTCCCTGAAGTGCTGGCCTGCGAGAGGTAAGGAGAGCGGGCAATGGAGGATGAGGCTTCCAGTCCTCTTGGAGTGGGCCGGGAGTCACATCATTGTCAGAGGAGGAAACAGAGGCCCAGAGAGGTTCAGTGACTCTGCCAGGGACACACAGCGACCCAGCGTCACCATCGGAGCCCCAGAGGCCTTTGTCACTTCCTGTGCTGTATTGCCCAACACTGGGGTTATGGAGTCAGGCCTGAGCCCCGGGGAGAGATGACAGGGAGGCCTCATTTAATCACTGGCGTGCTCCCAGCTACTGGCGAAGTTGATTAAGTGGGTACTTCTGAGTACCGGGCAGAGTGCTAAGCACTTTACAGGGATTGATGATCTCATGAGGATTTTGCCCAGTGAGGGGGATCCTGGGACAAGTTCAGCAATCAGTAAATATTAATCAGTGAGTGAATGAATTCCGTTTAACACCCCTATGAAGTTGGTACTGTCATTTCCTCCAGTTCACAAAGAATAAAGGGAAACACAGAGAGGCTGCGTGACTTGCTGGTCACACAGCCGTGAGTGACGGAGCCGGATTTGACCCAACCCAGAGCAGGGCTCCGCACGTGGTGGGGGCTTAAGAAGCTCAGTCTGGCGGGTTCACACACCAGGCCTCAGGCCTCTCTCTGCTCCAAAATTCCGCTGAGTCCAAGAGGTGGGATGATCCAGGGCACAGCCTCTGCTCAGAGTTGCTGCAGAAACACTGGGCTCAGCACCTTGAGCCTGAAAGTGGCCCAGGCAGAAGGGACTTCGTTGAAGAGGGGCCTTCTTGGACTGGCCAGCCCTGGCTTAGAACGGCTTGCTTTCAGCATTTGGGACTTAGAGGATTTGAAACGGTTTGGGTGGGAGAGTCATCATTTAAAATGCATTTGCCTATGAGGGAAAAAAGGTCAAAGACTTTTACACTCTGCCATGTATCTGCCCCCGTTGACCCTATGATGGTCACTTGATTTGTCTGATTCTCTCTTCCCTGAGTCAGTTTCTGCATCTGTAAAATGGGCATGAGAATGTCTCTGCTAAGGCACCGAGGAAAGGTGACACGTGATGATAGACATGAAAATGCTTGAGGTTGGGCACCATGGCTCATGCCTGTAATCCCAACATTTGGGAGGCCAAGGTGGGTGGATTGCTTGAGCTCGGGAGTTTAAGACCAGCCCAGGCAACATAGTGAGACCCCATCTCTAAAATAAAATCCAAAATCAACCGGGTATGGTGGTGCATGCCTGTAGTCCGAGCTACACGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCGGGAGGTGGAGGCTGCAGTAAGCCGTGATTGTACCACTGCACTCCAGCCTGGGAGACAGAGCAAAACCCTATTTCTAAAAAGATAAGTAAATAAATTTTTTTTTAGAAAATACTCAAAGGAGGAAACGTCATTTTTATTTCTCTCCCTTCCCTCTCTCCATTGGTTTTCTCTTGGAAGTCCCAGGCACCTATGTCTCTGACACCAACTGTTCTCTTATGGCCATTAGTGGGTTTCAAACAGCTCATTTGATCCCTTCTTATAAACCTGGAGTGAGCGTAAGGACCTCAGCATGCTGCAGAATGAGAGTTTGAGGCAGGGTGTGCTGTGGCTTGTACTGATGAGGGACGTGCCAATATTCTTACTCTTCATTTCCGATACCCTGAAAGTCTTTTCCGCTTCTCATTTTATTTTGCAGTGTAGACGTTGACCTGTGTATCTACAGCCTTCACTTAAAAGACCTGCTGCATTTGGACACGGCACTGAGGCAGGAAAAGCATATGGTAGGTGGAGATGTTCGCATTCCCTCCTTTTCATGGGGACAGGAGCTGGGAGACAAGGACTCTGTGTGCAGTGAGTCCCAGAGACCCTTGAGAGGCAGACATCAGTGGAAACAGAGCCGCTGTGAGGTGGGGGAAAGCGGCGCTGTCAGGCATGCAGCCACAAAATGGAAAAGCACTTCACGCCTGTTGGTGGGGCATGGCCTTGACTTCAACCAGAGCTGTAGGGGCCTCAGCAGAAAGATGAGTGCCTCCTCCCGGGCTACACCTCCTGCTGGAGATAGAGATAAAAGATATTTAAAAGAGAACAATATGTTTAAAGGAATGATAATAATGATAAGAATATTTATGAGCATGAATTTTCTTGAGTCTTGCTATGTACGAGGTCCCAGGAGTATTACACTTAAACCTCAGCACAACCCAGAGGGGCGGGTGTCATTATCATGTCCACTCTGCAGGTGAGAAAACTGAGGCACAGGGCAGAGGATTTACCCAAAGTTATAAAGCTGCAGGAGTGGCACTGAGATGAGAAGTTCAGTACCTTTTCATGGGGCCACGTGTTCTCTTGACTGAATGAACAAGAACTCAGAACTGTGGATGTGGGGAAAACAACATTAGTCTCTGCCAGATGCACCTGGCCTCTGATTGAATCAGCCACGGACCTGAGCTATGGGAAGCCAGAGAGAGGAGTCCCACTTTAGCCGCAGAACCCCGGTGGGTTTATTCAGGCATCAAGATGACGGGGGTTAAAAAAAAGTGTTATTTCTCCATAAGGCACATTCTCTGAATTACTGAATGAGGAATGAGACCCTACAGAGAGAAGGCAGATGAGAGAAAGAGGAGAGCTAGAAACAGGTGGACAGACACACAGATATGTCTACAGGGCACTCTTACAAACTGGAGAAGAGCAAGAACATCACGTTGGAGGCCAGGCATGGTGGCTCACGACTATAATATCAGGGTTTGGGAGGCTGAGGTGGGAGGATTGCTTAAGCCCAGGAATTTGAGACCAGCCTGGGCAACATGGCAAAACCCTATCTCTACCAAAAACAAAAACAAACAAACAAACAAACACTTAGCCTGGTGCAGTGGTGTGTGCCTATAGTCCTAGGTACTCAGGAGGCTGAGGTGAGAGGAACACTTGAGTCCAGGAGATGGAGGCTGCAGTGAACTGTGATCACACCACTGCACTCCGACCTGGGCAACACAGCGACATCCTGTCTCAAAAAACAAAAAACAAGAATAGCACACTGGGGATGTGCCTGGAAGAAGCTTGGGCTCTGTGTGAGCAGGACTGACTGGCCTCATAAACGGGTGCCAATGTTTGAAACCGTAAATATGCTAGAATTCAAGAACTAGAGCATGGCCCTTCACCCCCTCTATCCCCAGCCCCATGGAGGTCCCTGGATGGGGGCCACCAGGCAGCCTGTGTCCAGCTTTCCTCAGTGAGCTACACCTGGCCCTGGCTGTTTTCTCCAAGGCTCCATGCTTCCTGAGAGGACCAGTTGTTTCTGGGCTCAGAGCCTGTCCAGTTGGCAAGCAGAGTAGTCCTGGCTGGCCTCGCCCCACAGCCAGCGAGTGTCCACAGGGAGCAGCTTACAGTCCTGGAGGGAGCGTTCAGCATCACTCACCATCCAGCACAGGGGTGTGGCCTCTGCACACTGCCAGGCACTGTGTCAGACCCCAGGGGCAGCCTCTGCCTTTGTGGAGCCCACTCTCTGGGGCAGTGGGGAGGGCAGTAAACAGATGTCACAAAATAAACGGTGGCAGGCAGCATGGCAAAGGCCTGTGACAAAGCATCATGCGAGTGTGAAGGGGGCACCTGAGGGAATGCAGAGCTGGGGAGATGGTCAGGCTTCCCTGTGGGGAGTCTCGTGGGTGGAAACCCAGGGAAGTTCCAGGAGCACTGGATTAAGGGACAGTCCTAGACCCTAGTCCACCCTTTGACAATTAGGAGCTGTGTGACTTTGGGTAAGTTGCTTCACCTCTCTGGGCCACTTTAGGAAAGGCTTAAATAAAATATCCTTTCAGCTATTGCTATATGG | GAGGCATCACATGGACTGAGTGTGACTCCTACTGCCACCCCAGCCTCTGGCCGATGGCTCCTCCAACCCGTCTCTGCATGAAAACTTAAAGCAGGCTGTTTTGCCACACCAGCCGGTAGAGGCCTCTCCTTCCAGCAGTCTGGGGAGCCTGAGCCAGGGTGAGAAGGACGACTGCAGCTCCTCATCCAGCGTCCACTCGGCCACCAGCGATGACAGGTTTCTCAGCCGCACCTTCCTCCGGGTGAACGCCTTCCCTGAAGTGCTGGCCTGCGAGAGGTAAGGAGAGCGGGCAATGGAGGATGAGGCTTCCAGTCCTCTTGGAGTGGGCCGGGAGTCACATCATTGTCAGAGGAGGAAACAGAGGCCCAGAGAGGTTCAGTGACTCTGCCAGGGACACACAGCGACCCAGCGTCACCATCGGAGCCCCAGAGGCCTTTGTCACTTCCTGTGCTGTATTGCCCAACACTGGGGTTATGGAGTCAGGCCTGAGCCCCGGGGAGAGATGACAGGGAGGCCTCATTTAATCACTGGCGTGCTCCCAGCTACTGGCGAAGTTGATTAAGTGGGTACTTCTGAGTACCGGGCAGAGTGCTAAGCACTTTACAGGGATTGATGATCTCATGAGGATTTTGCCCAGTGAGGGGGATCCTGGGACAAGTTCAGCAATCAGTAAATATTAATCAGTGAGTGAATGAATTCCGTTTAACACCCCTATGAAGTTGGTACTGTCATTTCCTCCAGTTCACAAAGAATAAAGGGAAACACAGAGAGGCTGCGTGACTTGCTGGTCACACAGCCGTGAGTGACGGAGCCGGATTTGACCCAACCCAGAGCAGGGCTCCGCACGTGGTGGGGGCTTAAGAAGCTCAGTCTGGCGGGTTCACACACCAGGCCTCAGGCCTCTCTCTGCTCCAAAATTCCGCTGAGTCCAAGAGGTGGGATGATCCAGGGCACAGCCTCTGCTCAGAGTTGCTGCAGAAACACTGGGCTCAGCACCTTGAGCCTGAAAGTGGCCCAGGCAGAAGGGACTTCGTTGAAGAGGGGCCTTCTTGGACTGGCCAGCCCTGGCTTAGAACGGCTTGCTTTCAGCATTTGGGACTTAGAGGATTTGAAACGGTTTGGGTGGGAGAGTCATCATTTAAAATGCATTTGCCTATGAGGGAAAAAAGGTCAAAGACTTTTACACTCTGCCATGTATCTGCCCCCGTTGACCCTATGATGGTCACTTGATTTGTCTGATTCTCTCTTCCCTGAGTCAGTTTCTGCATCTGTAAAATGGGCATGAGAATGTCTCTGCTAAGGCACCGAGGAAAGGTGACACGTGATGATAGACATGAAAATGCTTGAGGTTGGGCACCATGGCTCATGCCTGTAATCCCAACATTTGGGAGGCCAAGGTGGGTGGATTGCTTGAGCTCGGGAGTTTAAGACCAGCCCAGGCAACATAGTGAGACCCCATCTCTAAAATAAAATCCAAAATCAACCGGGTATGGTGGTGCATGCCTGTAGTCCGAGCTACACGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCGGGAGGTGGAGGCTGCAGTAAGCCGTGATTGTACCACTGCACTCCAGCCTGGGAGACAGAGCAAAACCCTATTTCTAAAAAGATAAGTAAATAAATTTTTTTTTAGAAAATACTCAAAGGAGGAAACGTCATTTTTATTTCTCTCCCTTCCCTCTCTCCATTGGTTTTCTCTTGGAAGTCCCAGGCACCTATGTCTCTGACACCAACTGTTCTCTTATGGCCATTAGTGGGTTTCAAACAGCTCATTTGATCCCTTCTTATAAACCTGGAGTGAGCGTAAGGACCTCAGCATGCTGCAGAATGAGAGTTTGAGGCAGGGTGTGCTGTGGCTTGTACTGATGAGGGACGTGCCAATATTCTTACTCTTCATTTCCGATACCCTGAAAGTCTTTTCCGCTTCTCATTTTATTTTGCAGTGTAGACGTTGACCTGTGTATCTACAGCCTTCACTTAAAAGACCTGCTGCATTTGGACACGGCACTGAGGCAGGAAAAGCAATATGGTAGGTGGAGATGTTCGCATTCCCTCCTTTTCATGGGGACAGGAGCTGGGAGACAAGGACTCTGTGTGCAGTGAGTCCCAGAGACCCTTGAGAGGCAGACATCAGTGGAAACAGAGCCGCTGTGAGGTGGGGGAAAGCGGCGCTGTCAGGCATGCAGCCACAAAATGGAAAAGCACTTCACGCCTGTTGGTGGGGCATGGCCTTGACTTCAACCAGAGCTGTAGGGGCCTCAGCAGAAAGATGAGTGCCTCCTCCCGGGCTACACCTCCTGCTGGAGATAGAGATAAAAGATATTTAAAAGAGAACAATATGTTTAAAGGAATGATAATAATGATAAGAATATTTATGAGCATGAATTTTCTTGAGTCTTGCTATGTACGAGGTCCCAGGAGTATTACACTTAAACCTCAGCACAACCCAGAGGGGCGGGTGTCATTATCATGTCCACTCTGCAGGTGAGAAAACTGAGGCACAGGGCAGAGGATTTACCCAAAGTTATAAAGCTGCAGGAGTGGCACTGAGATGAGAAGTTCAGTACCTTTTCATGGGGCCACGTGTTCTCTTGACTGAATGAACAAGAACTCAGAACTGTGGATGTGGGGAAAACAACATTAGTCTCTGCCAGATGCACCTGGCCTCTGATTGAATCAGCCACGGACCTGAGCTATGGGAAGCCAGAGAGAGGAGTCCCACTTTAGCCGCAGAACCCCGGTGGGTTTATTCAGGCATCAAGATGACGGGGGTTAAAAAAAAGTGTTATTTCTCCATAAGGCACATTCTCTGAATTACTGAATGAGGAATGAGACCCTACAGAGAGAAGGCAGATGAGAGAAAGAGGAGAGCTAGAAACAGGTGGACAGACACACAGATATGTCTACAGGGCACTCTTACAAACTGGAGAAGAGCAAGAACATCACGTTGGAGGCCAGGCATGGTGGCTCACGACTATAATATCAGGGTTTGGGAGGCTGAGGTGGGAGGATTGCTTAAGCCCAGGAATTTGAGACCAGCCTGGGCAACATGGCAAAACCCTATCTCTACCAAAAACAAAAACAAACAAACAAACAAACACTTAGCCTGGTGCAGTGGTGTGTGCCTATAGTCCTAGGTACTCAGGAGGCTGAGGTGAGAGGAACACTTGAGTCCAGGAGATGGAGGCTGCAGTGAACTGTGATCACACCACTGCACTCCGACCTGGGCAACACAGCGACATCCTGTCTCAAAAAACAAAAAACAAGAATAGCACACTGGGGATGTGCCTGGAAGAAGCTTGGGCTCTGTGTGAGCAGGACTGACTGGCCTCATAAACGGGTGCCAATGTTTGAAACCGTAAATATGCTAGAATTCAAGAACTAGAGCATGGCCCTTCACCCCCTCTATCCCCAGCCCCATGGAGGTCCCTGGATGGGGGCCACCAGGCAGCCTGTGTCCAGCTTTCCTCAGTGAGCTACACCTGGCCCTGGCTGTTTTCTCCAAGGCTCCATGCTTCCTGAGAGGACCAGTTGTTTCTGGGCTCAGAGCCTGTCCAGTTGGCAAGCAGAGTAGTCCTGGCTGGCCTCGCCCCACAGCCAGCGAGTGTCCACAGGGAGCAGCTTACAGTCCTGGAGGGAGCGTTCAGCATCACTCACCATCCAGCACAGGGGTGTGGCCTCTGCACACTGCCAGGCACTGTGTCAGACCCCAGGGGCAGCCTCTGCCTTTGTGGAGCCCACTCTCTGGGGCAGTGGGGAGGGCAGTAAACAGATGTCACAAAATAAACGGTGGCAGGCAGCATGGCAAAGGCCTGTGACAAAGCATCATGCGAGTGTGAAGGGGGCACCTGAGGGAATGCAGAGCTGGGGAGATGGTCAGGCTTCCCTGTGGGGAGTCTCGTGGGTGGAAACCCAGGGAAGTTCCAGGAGCACTGGATTAAGGGACAGTCCTAGACCCTAGTCCACCCTTTGACAATTAGGAGCTGTGTGACTTTGGGTAAGTTGCTTCACCTCTCTGGGCCACTTTAGGAAAGGCTTAAATAAAATATCCTTTCAGCTATTGCTATATG | pathogenic | 79,760 |
Assess the variant on chromosome 4, position 5741760, impacting EVC (EvC ciliary complex subunit 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | CCAAAAAAAATTTGCTGTTTCACCCTTTACTGAAAAAGTTTGCTAACCCCTGCATTTAAAAATGCCTTACCAGGCGGGATGCAGTGACTCATGCCTATAATCCCAGCACTTTGGGAGGTGGAGGCAGGCAGGTTGCATGAGTTCAGGAGTTCGAGACCAGCCTGGGCAACACAGAGAAACCCCATCTCAAAAAAAAAAAAAAAAGCCTTACCGGTTCACCAAAGAAAAAGAAAATGCCTTATTATATCTAAATGACCATATTATATCTAAATGACCTTTGACAAAGAGGCAAAAGCACTTCAATGGAGGAATGATAAGCTTTTCAATAAATGGTACTGGAGCAATTGGACATCCATAAACAATAACAACGACAAAAGAACCTCAACCTAAACTTCACACCTTATACAAAAATTAATTCAAAAGGGATCACATACTTAAATGTAAACAGTAAACTATAAATCTTTTAGAAAAAATATTGCCAGGCATGGTTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCACATGCTTGTAATCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCGGGAGGTGAAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCTAGCCTGGACGACAGACTGATACTCCATCTCAAAAAAAAAAAAAAAAAGAAAAAGAAAAAATATAAGAGAAATTCTCCAGGATTTAGACCTAGGCAAAGAGTTTTTAGACTTGACACCAAAAGCATGACACACAGAAGGAAAAATTAACTGGAATTCATCAAAATTAAAAACTTTTGCTTTGCAAAAGACCTCTTTAAGAAGATGAGAAGACAAGCTACAGAGTGAGAGAAAATGTTTGCAAAACAGATGTCCACCAAAGGACTAGTACCTAGACCAGATAAGGAAATTTCCAAACTCAGCTGAAGACAGGAAGCAATCCAGTTAGAAAATGGGAAGGACATGAACAGATATTTCACCAAAAAGGATATATAGATGGTAAGTAAACACGTAAAAAGGTGTTCAATGTCATTAAGCCAGCATGAAAATCCAAGTTGAACTCACAATAAGATATCACCACACACTTGTCAAAATGGCTAAAATAAAAAATAGTGACACCACCAAATTCTGGCAAAGATGTGGAGAAACTGGATCACTCATACATTGCTGATGGAAATATAAAATGGTACCTACGGCCATACTGGAAAACGTTTTGGCAATTTCTTATCAAACTTAACTTGCAGTTACCAGAAGACCCAGCAATTGCATTTGTGGGCATTTATCTCAGAGAAATGAGGACTTACGTTCACACAAATGTTCACAGCAGCATTGTTCATAATAGCCCCAAACTGGAAATAATCCAGATGTCTTACAGGGGTGAATAGATCAACAAATTGCAGATACAGCCCCCTCTGTACTTCCTGGGTATCCCCACTTATGGGAGGGTTCTTCCTAGTTTAAAGGACATCTCCATCCATTGAAACAGGAGACTGACATGGATAACTTTTCATTTCCAGTTCCATACAACTATCCCGCTGATTCTTTCTTCAAAGAAGCAAACCCTCCTTTGCTTTTTATATTTTCTTCACACATGGAAATGGGGGATGTGGAGGGCCTTGCACAGAGTAAGCACTCAATATTTGTTGAATACATGCATGAGGAAGAAAGGAAGCTTTTTAAGGAAGCTTCATGAAAATGTAATGCATTATGGGCCATTGTCATGATTTATAATCGGAGTTCCTTTCCTTCAGCAAAAAATATACGTGAAGAGAGGGTGAAAGAGAAGAAAAGAAGGAGAGAGGCAGTGGGGGAGGGAGGGAGAAGAGAAAACAGAAAGCAAAAGACAAAAATACCATTGATTAAACTTTTCTTTTGTTATCTTTCCTTTCTTGGCAATAGATGTTTATTCAGATTTTTAAAATGTGCCTCCTTGACCTTCTTCCTAAAAAGAAGTCAGATGATGAACTATACCAGAAGATCCTTTCAAAACAAGAAAAAGTAAGTCTTCAACCTATGTTTCAAGGTAACTTAAAAATAGTTTATTATAATATATACAACTTATGATGCAAAAATTTTTTTCTTTCATGTATAAAATAGCTTATTACAATATATACTTTTCAACACAGTATAGTGAAATATAAAAGTATGTATACAAATATTTAAAAAGTGTATTATTAAAATTTGGAATACTATTTATAGCAAAGAGAATAATATTGGTCATATCTACTACTCAAAGACGGTCACTGTTAATGTTTTTTTCTGCACACATTTGGGATATTTTTAAAGACATAATTTGTTTATTGGTTATAGCTATGTATACTACTTTGTATTCTATTCTCAGTCTTTTATGGAAAGTTTATTTTGTCTCAGGCGCAGCAAAGAGTCAGGGCTTGGAGTCAGACTGGTTGAGGTTGGTATCCTGGCTTTATCTTTTACAAGCTCTCAGAATCGTAGTTTCCTTTTTGTATAGTGAGATAATTCCTGTTCTGCGAGAGTGCAGAAAGGATAAGAGAGATGTGTATGATACACCTAGCAATGTCATAGTTGGCTGTGAATATGTGATGGCTGCTGTCATCCTCATTATCACAACCACCACCAAAATCATCATCATCTTCATTATCACCACCAGTTTTATTTTGTATCACCATCACCACCACTATTACTATCACAGTTCTCTTCTTCATCATGTCATTGTTGTCATCACCATAAACACCATCATCTTTGCTATTGTCACCACTGACATCATCATTCTTTGTCTTTACCACCATCATCATCATCCTCATGACCGCTGTCATCACCAACACCATCACCATCCTCATGTCCTCATTACCATCATCATGAGCATCATTTTTATCATTGTTGTAATTATTGGCATTCTCATTACTACCATCACCGCCATCATCATCTTCATTACCACCATAATCATCATCACCATCCTTATTGCCATCACCACCACCAATGTTGCAGGGCAGGCAAGCTCCAGAATAGGGTTTAGCCTGGGAGGGTACTTGGCTTCACCTAGGAAGGAATTCAAGGGAGAGCCAGTGGTGTTAGACAGTAGTGTTTTAGTGAATGGTGCCACTCCTTGCGGAGCAGGGCTAACCCGTAGGCAGTGTGCCCAGAGTTGGTAACATATGGATGCTTGGCAACTGTATTTATACTCATGTAAACCCACTTTCAATTACATGCAAATGAAAGGGCAGTTCATTGCAAATTGAGGGACAGGTTATTTAGAACTTTCTAAAAAGGGGACAGTAACTTCTGGGTTGTTGCCATGGAAAAGGGTGGTAACTTTTGGGTTGTTGACATGGCATTTGTAATCTGTGGTTGTGCTGGTGGGAGTGTCTTATGCTAATGAGCAATGAGGGCAGCAAGGGATCACTTTCATCACCATCCACTGGTTCCTGCCGGTTTCTTCACTTTATCCTGTCTGGACCAGATCCCATTTTGATCAGCAGGGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATTGTTGTGATAGTCTTCATCAGCACCACCATCATCACCATCTTCATCAGCACCACCATCACCACCTTTATCATCTTTCCTGCTACCTCTACCTTCACCTTCATTAGAGTCCTCATTGTCATCGTCATCGTCCTTGTTCCTACCACTGTGAGATCTGGGGGTTTGGGAAGGAATGTTTCTTCTTTACTCCACTGGATTCCATGAGGAAGGATGACTCACTGCATCCCAGGAAGGAGGAAGGACATCATCATCTTCACTGTCATCCTCAGTATCACCACCATGGTCATGGTCCTCAGGCAGTGCACGTCGTGCTTGACATACATTATTTCATTTAATAGTTATGACAGCCCTGT | CCAAAAAAAATTTGCTGTTTCACCCTTTACTGAAAAAGTTTGCTAACCCCTGCATTTAAAAATGCCTTACCAGGCGGGATGCAGTGACTCATGCCTATAATCCCAGCACTTTGGGAGGTGGAGGCAGGCAGGTTGCATGAGTTCAGGAGTTCGAGACCAGCCTGGGCAACACAGAGAAACCCCATCTCAAAAAAAAAAAAAAAAGCCTTACCGGTTCACCAAAGAAAAAGAAAATGCCTTATTATATCTAAATGACCATATTATATCTAAATGACCTTTGACAAAGAGGCAAAAGCACTTCAATGGAGGAATGATAAGCTTTTCAATAAATGGTACTGGAGCAATTGGACATCCATAAACAATAACAACGACAAAAGAACCTCAACCTAAACTTCACACCTTATACAAAAATTAATTCAAAAGGGATCACATACTTAAATGTAAACAGTAAACTATAAATCTTTTAGAAAAAATATTGCCAGGCATGGTTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCACATGCTTGTAATCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCGGGAGGTGAAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCTAGCCTGGACGACAGACTGATACTCCATCTCAAAAAAAAAAAAAAAAAGAAAAAGAAAAAATATAAGAGAAATTCTCCAGGATTTAGACCTAGGCAAAGAGTTTTTAGACTTGACACCAAAAGCATGACACACAGAAGGAAAAATTAACTGGAATTCATCAAAATTAAAAACTTTTGCTTTGCAAAAGACCTCTTTAAGAAGATGAGAAGACAAGCTACAGAGTGAGAGAAAATGTTTGCAAAACAGATGTCCACCAAAGGACTAGTACCTAGACCAGATAAGGAAATTTCCAAACTCAGCTGAAGACAGGAAGCAATCCAGTTAGAAAATGGGAAGGACATGAACAGATATTTCACCAAAAAGGATATATAGATGGTAAGTAAACACGTAAAAAGGTGTTCAATGTCATTAAGCCAGCATGAAAATCCAAGTTGAACTCACAATAAGATATCACCACACACTTGTCAAAATGGCTAAAATAAAAAATAGTGACACCACCAAATTCTGGCAAAGATGTGGAGAAACTGGATCACTCATACATTGCTGATGGAAATATAAAATGGTACCTACGGCCATACTGGAAAACGTTTTGGCAATTTCTTATCAAACTTAACTTGCAGTTACCAGAAGACCCAGCAATTGCATTTGTGGGCATTTATCTCAGAGAAATGAGGACTTACGTTCACACAAATGTTCACAGCAGCATTGTTCATAATAGCCCCAAACTGGAAATAATCCAGATGTCTTACAGGGGTGAATAGATCAACAAATTGCAGATACAGCCCCCTCTGTACTTCCTGGGTATCCCCACTTATGGGAGGGTTCTTCCTAGTTTAAAGGACATCTCCATCCATTGAAACAGGAGACTGACATGGATAACTTTTCATTTCCAGTTCCATACAACTATCCCGCTGATTCTTTCTTCAAAGAAGCAAACCCTCCTTTGCTTTTTATATTTTCTTCACACATGGAAATGGGGGATGTGGAGGGCCTTGCACAGAGTAAGCACTCAATATTTGTTGAATACATGCATGAGGAAGAAAGGAAGCTTTTTAAGGAAGCTTCATGAAAATGTAATGCATTATGGGCCATTGTCATGATTTATAATCGGAGTTCCTTTCCTTCAGCAAAAAATATACGTGAAGAGAGGGTGAAAGAGAAGAAAAGAAGGAGAGAGGCAGTGGGGGAGGGAGGGAGAAGAGAAAACAGAAAGCAAAAGACAAAAATACCATTGATTAAACTTTTCTTTTGTTATCTTTCCTTTCTTGGCAATAGATGTTTATTCAGATTTTTAAAATGTGCCTCCTTGACCTTCTTCCTAAAAAAGAAGTCAGATGATGAACTATACCAGAAGATCCTTTCAAAACAAGAAAAAGTAAGTCTTCAACCTATGTTTCAAGGTAACTTAAAAATAGTTTATTATAATATATACAACTTATGATGCAAAAATTTTTTTCTTTCATGTATAAAATAGCTTATTACAATATATACTTTTCAACACAGTATAGTGAAATATAAAAGTATGTATACAAATATTTAAAAAGTGTATTATTAAAATTTGGAATACTATTTATAGCAAAGAGAATAATATTGGTCATATCTACTACTCAAAGACGGTCACTGTTAATGTTTTTTTCTGCACACATTTGGGATATTTTTAAAGACATAATTTGTTTATTGGTTATAGCTATGTATACTACTTTGTATTCTATTCTCAGTCTTTTATGGAAAGTTTATTTTGTCTCAGGCGCAGCAAAGAGTCAGGGCTTGGAGTCAGACTGGTTGAGGTTGGTATCCTGGCTTTATCTTTTACAAGCTCTCAGAATCGTAGTTTCCTTTTTGTATAGTGAGATAATTCCTGTTCTGCGAGAGTGCAGAAAGGATAAGAGAGATGTGTATGATACACCTAGCAATGTCATAGTTGGCTGTGAATATGTGATGGCTGCTGTCATCCTCATTATCACAACCACCACCAAAATCATCATCATCTTCATTATCACCACCAGTTTTATTTTGTATCACCATCACCACCACTATTACTATCACAGTTCTCTTCTTCATCATGTCATTGTTGTCATCACCATAAACACCATCATCTTTGCTATTGTCACCACTGACATCATCATTCTTTGTCTTTACCACCATCATCATCATCCTCATGACCGCTGTCATCACCAACACCATCACCATCCTCATGTCCTCATTACCATCATCATGAGCATCATTTTTATCATTGTTGTAATTATTGGCATTCTCATTACTACCATCACCGCCATCATCATCTTCATTACCACCATAATCATCATCACCATCCTTATTGCCATCACCACCACCAATGTTGCAGGGCAGGCAAGCTCCAGAATAGGGTTTAGCCTGGGAGGGTACTTGGCTTCACCTAGGAAGGAATTCAAGGGAGAGCCAGTGGTGTTAGACAGTAGTGTTTTAGTGAATGGTGCCACTCCTTGCGGAGCAGGGCTAACCCGTAGGCAGTGTGCCCAGAGTTGGTAACATATGGATGCTTGGCAACTGTATTTATACTCATGTAAACCCACTTTCAATTACATGCAAATGAAAGGGCAGTTCATTGCAAATTGAGGGACAGGTTATTTAGAACTTTCTAAAAAGGGGACAGTAACTTCTGGGTTGTTGCCATGGAAAAGGGTGGTAACTTTTGGGTTGTTGACATGGCATTTGTAATCTGTGGTTGTGCTGGTGGGAGTGTCTTATGCTAATGAGCAATGAGGGCAGCAAGGGATCACTTTCATCACCATCCACTGGTTCCTGCCGGTTTCTTCACTTTATCCTGTCTGGACCAGATCCCATTTTGATCAGCAGGGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATTGTTGTGATAGTCTTCATCAGCACCACCATCATCACCATCTTCATCAGCACCACCATCACCACCTTTATCATCTTTCCTGCTACCTCTACCTTCACCTTCATTAGAGTCCTCATTGTCATCGTCATCGTCCTTGTTCCTACCACTGTGAGATCTGGGGGTTTGGGAAGGAATGTTTCTTCTTTACTCCACTGGATTCCATGAGGAAGGATGACTCACTGCATCCCAGGAAGGAGGAAGGACATCATCATCTTCACTGTCATCCTCAGTATCACCACCATGGTCATGGTCCTCAGGCAGTGCACGTCGTGCTTGACATACATTATTTCATTTAATAGTTATGACAGCCCTG | pathogenic | 79,764 |
Evaluate the clinical significance of the mutation at chromosome 4, position 5745186 in gene EVC (EvC ciliary complex subunit 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | CTGTGGTTGTGCTGGTGGGAGTGTCTTATGCTAATGAGCAATGAGGGCAGCAAGGGATCACTTTCATCACCATCCACTGGTTCCTGCCGGTTTCTTCACTTTATCCTGTCTGGACCAGATCCCATTTTGATCAGCAGGGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATTGTTGTGATAGTCTTCATCAGCACCACCATCATCACCATCTTCATCAGCACCACCATCACCACCTTTATCATCTTTCCTGCTACCTCTACCTTCACCTTCATTAGAGTCCTCATTGTCATCGTCATCGTCCTTGTTCCTACCACTGTGAGATCTGGGGGTTTGGGAAGGAATGTTTCTTCTTTACTCCACTGGATTCCATGAGGAAGGATGACTCACTGCATCCCAGGAAGGAGGAAGGACATCATCATCTTCACTGTCATCCTCAGTATCACCACCATGGTCATGGTCCTCAGGCAGTGCACGTCGTGCTTGACATACATTATTTCATTTAATAGTTATGACAGCCCTGTGAGTGGCCATTGTTATTTTTGTTTTACAGCTGAAGAAACTGAGACTCCATAAGTTCAAATGACTTTCCAATGGCAAAAATGATAATGATGATGATGACATTTATAATGGTATTAGTAATAATGAAACAATACTGTCTGTTATAATAGAAAGAATAAGAGCCTTGGAGTCTGCAGACCTCAGATCAAATTCCATCTCTACGAGTTAAACAAGGCTGTCTGAACTTAAGCAAGCATGTTAATTATAATAGTGGCTACTATTTGTTGAGATAGGCTAGCCAAGTGATTTAAATGCATAATTTCATTTAACACTTGGAATGACCTTAAAACTTTCAGAAGAGGACAAGGAGTGCCCAGAATTTGGAAGAGTAAGGACAAGCCTGGCACTGCCCCTTCCTGCCTGGGCATCTTTGGACAAACTATCTTACCTTCCATAAACCAGCTTTCTCACCTGGAAATGGGTCATAATTTCTCTTTCACAGAGATGCCGTGAGGATTAGAAATCACATATGGCCTCAGCTTGGGTCTTCAATAGTAGTTTATATCAATGTTATTTTTCCTAGTGAACCTTGACCCATGCCACACTGTTGGCTATGTGACAATGAATATAGAGAAAATAGAACTGCCTCCCACACACTATCTTGGGGTTTGTGAGTCTATACTTAGGACTCACCTTTTCCTTCCTGAGTTCAGAATCATTTGAGAGAGTCAGGAGGACAGATATAGAAATGTAGCTTTGTTACTGATTAGAGGCCAGCTTGGACGATGTGGCTTACATGCACAGCTATCATGGCTTCCTAATACTGAATCCCAGAATTCACTCAATTGCCTAGCTAGTCACGGGCAATGCTGGGCCACCTCAGGCTTCCCCACACAGAAACAGGGCCTTGGCTACCCAGCTCACTCTAGGCTGATATCACACCAGAGCAATGGCCTCCCCTGATTGGCCCATCACAAACAGGAAGAGGCTGGGCAAGTTTCTGGCCTTTAAACCAACCAATCAAATACACACCACTTCCTGCCCTGGGGTGTTGTTCTTTCCCAGGAAAACCAGAAGAGGAGCAAAGAAACATTCCTTCCCAACCCACTGGATGTCATGATATTTTCCAGGACTTCATAATGATTGAAAGATACTATTTTATTGATTTTTAAAGTATGGTCTAGTTTTTTTTTTTTTTTTGAGGGAGGATATAGAGGAAAATAATCCATTATTCTTGAGGCTCTATGTTTAATGAGAAAATGGGTCAAACCTCATGTACAACAACCCCCAGAGCATTTAACTATTGTTTAAAAATATTTTGTGAAATTTGAAAAATAAAAGCATTTATTTTTCTAGAATTTAAGACACGCTAAACTTTTTCTTTGTTTATTTGCTTTCTTTTTTCTTCTTCTTCTTCAGGATTTGGAGGAACTAGAAAAGGGACTTCAGGTCAAACTGTCAAACACAGAAATGTCGGGGGCTGGTGACTCTGAGTACATCACCCTGGCTGATGTGGAAAAGAAGGAGAGAGAATACTCTGAACAGCTAATCGATAATGTGCGTGCCAGACTTTCTTTCCTGTACACAAATTTTGGTTCCTAAAACAGTTAAATTGGCTACATTAGAGAGATGATAGTTAGAAGTGTGCCTAATACTTGAATTCCCCTATCGCATTCTGCCCTAGAGGCAGGATCCAGTTTCTGATGCTAAGTGATAGGGAAGAAGTAATTAAGCAGCAAAGATTCACAAAGGGAGGTTTATTTTTTATATCATGAATTATCCTCATTTAAATTTCAGATTGGTCTTTTTATCATTCAAAGCAAAGGTTGCTATAACCCTTGATGTCATCACTGCCCTTTGGAATAGAGTAGAAGAAAGCTGCTAGGCATCACTCGTGAAAGCAAGTTTTAAATTCCAGACAGAATGGCTTCTCTGAAACATCGTTTTTCTTTTCTTTTGGGTTCCACCACCCCCTGTTCATATATTATGTATTAAACAAACATGTCCTTGGCACTTGCTCTTCACCAGGGATTGTGCTGGGCACTGGGGACTCAAAAATCATTTAGACATGGCCCTGCCTGAGAGAGGCCAGGAGAGACAAACAGGTGAACAGATGAGGGCTTCACAGAGTGACACATCTTGTGATAGAAGGAAGCACAGGAGAAGGCCCGAGGCAGGCACAGTGGAGGGAAGAGTTCATTTTACCCCAGGCTTAGGAAAGCCTCCGTAGAAGAAGGGACCATGGAGAGGCTGGCCGGGAGAAGTGTGGGTGCTGGCCAGTGGTGGGGCAGAGATGGGAGCTAAAGAGGGCTGAGAGCAAGTCGAGGTAAGGTAAAGCCAGAGGGATCTGGCCAGAGGGCTTGTTTGTGTCTTAAGCCAGCGAGATGGGAGTGTCTATTGCCAGCGAGGTGGGAGTCACTGAAGCTTTGAAGCAGGGGGTGGCTGGCTTCAGCTTCTGCTTTAGAAGGGCTGCCCAGGCACTGAGTGGAGGGTGGTGAAGAGCTACTGGGCTAATCCAGCAGGAACTTTATTAAGGCAACTGCAGTAGGATGGAGAGGTGAGGAAACGTGTGAGAGAAGCTGTGGTGGTCTACCATGGGGCGGCAGGTGGGGAGGAGGAGGGGGTCCAGGGTCAGTGCTGCTGAAATAAGCGCCCCAGAGCAAGATGCTCATGGGAGGGAGGGAGCCAATGCTCCTGTCCTCTGAATAGGTCCAATATTGAGAGGAGAGGCTTGGAGATGGAGGGTCTCCATGAGAGCCCAGGTTAGAGGACTTTGAGGGCCAGAATGTTCTTAGAACTGTGGGCCAGGATGCTAAGGAAGAGGGCCAGCCTGGATTCCGGTGGTCCACAGAACCCCCAACGCTGTGTGCAGTATCTTGTCCATGTCTGCCTTTCTCAGGGACAGGGTTCAGAATTTTCATAAGATTCTCCAAAGTATTGGTGACCTCCAAAAATGGTGACCTCTGGCCTAGAAATGGTGTGTAAAATGGGAAGAGAAAAGAGCTTTGGTGCCAAATCCTGGATCCTGCCCATATTTAAGGAGGAGCGGATGAGAAGAATTGGGACAAGAAAGCAGAGGAGGAATTGGATGGGCTTTGCAGAAGCAGGAGAAAATCATGTCATGGACGCCAAGAGAATCAGGAGTTTGTAAGCAGAGCGGGCTGTGTAGAGTTGGCAGGTGACAGTCTGCAGTCACGTGGCAGGTGGAAGGCAGGTCATCTGATGGCTCCAAGGGGAAGAGCAGGGTGAGAGCCTGAGGGTGTCAGGCAGGTTTGAGGTCCCTCCTGGCAGGGATGAGAGGAGGAGCAGCATGTATGGGGTTTACTGGGAGGCAATGGGGCCCTGAGATGGGGAGCCGCATTGATGAGGGGTGTTCATCTGGGTGCAGGCTTCCTCCTGGCAGAGCCAGACCGACACCGCAGTTGAGGCTGACAGAGTTTCATGATCTT | CTGTGGTTGTGCTGGTGGGAGTGTCTTATGCTAATGAGCAATGAGGGCAGCAAGGGATCACTTTCATCACCATCCACTGGTTCCTGCCGGTTTCTTCACTTTATCCTGTCTGGACCAGATCCCATTTTGATCAGCAGGGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATTGTTGTGATAGTCTTCATCAGCACCACCATCATCACCATCTTCATCAGCACCACCATCACCACCTTTATCATCTTTCCTGCTACCTCTACCTTCACCTTCATTAGAGTCCTCATTGTCATCGTCATCGTCCTTGTTCCTACCACTGTGAGATCTGGGGGTTTGGGAAGGAATGTTTCTTCTTTACTCCACTGGATTCCATGAGGAAGGATGACTCACTGCATCCCAGGAAGGAGGAAGGACATCATCATCTTCACTGTCATCCTCAGTATCACCACCATGGTCATGGTCCTCAGGCAGTGCACGTCGTGCTTGACATACATTATTTCATTTAATAGTTATGACAGCCCTGTGAGTGGCCATTGTTATTTTTGTTTTACAGCTGAAGAAACTGAGACTCCATAAGTTCAAATGACTTTCCAATGGCAAAAATGATAATGATGATGATGACATTTATAATGGTATTAGTAATAATGAAACAATACTGTCTGTTATAATAGAAAGAATAAGAGCCTTGGAGTCTGCAGACCTCAGATCAAATTCCATCTCTACGAGTTAAACAAGGCTGTCTGAACTTAAGCAAGCATGTTAATTATAATAGTGGCTACTATTTGTTGAGATAGGCTAGCCAAGTGATTTAAATGCATAATTTCATTTAACACTTGGAATGACCTTAAAACTTTCAGAAGAGGACAAGGAGTGCCCAGAATTTGGAAGAGTAAGGACAAGCCTGGCACTGCCCCTTCCTGCCTGGGCATCTTTGGACAAACTATCTTACCTTCCATAAACCAGCTTTCTCACCTGGAAATGGGTCATAATTTCTCTTTCACAGAGATGCCGTGAGGATTAGAAATCACATATGGCCTCAGCTTGGGTCTTCAATAGTAGTTTATATCAATGTTATTTTTCCTAGTGAACCTTGACCCATGCCACACTGTTGGCTATGTGACAATGAATATAGAGAAAATAGAACTGCCTCCCACACACTATCTTGGGGTTTGTGAGTCTATACTTAGGACTCACCTTTTCCTTCCTGAGTTCAGAATCATTTGAGAGAGTCAGGAGGACAGATATAGAAATGTAGCTTTGTTACTGATTAGAGGCCAGCTTGGACGATGTGGCTTACATGCACAGCTATCATGGCTTCCTAATACTGAATCCCAGAATTCACTCAATTGCCTAGCTAGTCACGGGCAATGCTGGGCCACCTCAGGCTTCCCCACACAGAAACAGGGCCTTGGCTACCCAGCTCACTCTAGGCTGATATCACACCAGAGCAATGGCCTCCCCTGATTGGCCCATCACAAACAGGAAGAGGCTGGGCAAGTTTCTGGCCTTTAAACCAACCAATCAAATACACACCACTTCCTGCCCTGGGGTGTTGTTCTTTCCCAGGAAAACCAGAAGAGGAGCAAAGAAACATTCCTTCCCAACCCACTGGATGTCATGATATTTTCCAGGACTTCATAATGATTGAAAGATACTATTTTATTGATTTTTAAAGTATGGTCTAGTTTTTTTTTTTTTTTTGAGGGAGGATATAGAGGAAAATAATCCATTATTCTTGAGGCTCTATGTTTAATGAGAAAATGGGTCAAACCTCATGTACAACAACCCCCAGAGCATTTAACTATTGTTTAAAAATATTTTGTGAAATTTGAAAAATAAAAGCATTTATTTTTCTAGAATTTAAGACACGCTAAACTTTTTCTTTGTTTATTTGCTTTCTTTTTTCTTCTTCTTCAGGATTTGGAGGAACTAGAAAAGGGACTTCAGGTCAAACTGTCAAACACAGAAATGTCGGGGGCTGGTGACTCTGAGTACATCACCCTGGCTGATGTGGAAAAGAAGGAGAGAGAATACTCTGAACAGCTAATCGATAATGTGCGTGCCAGACTTTCTTTCCTGTACACAAATTTTGGTTCCTAAAACAGTTAAATTGGCTACATTAGAGAGATGATAGTTAGAAGTGTGCCTAATACTTGAATTCCCCTATCGCATTCTGCCCTAGAGGCAGGATCCAGTTTCTGATGCTAAGTGATAGGGAAGAAGTAATTAAGCAGCAAAGATTCACAAAGGGAGGTTTATTTTTTATATCATGAATTATCCTCATTTAAATTTCAGATTGGTCTTTTTATCATTCAAAGCAAAGGTTGCTATAACCCTTGATGTCATCACTGCCCTTTGGAATAGAGTAGAAGAAAGCTGCTAGGCATCACTCGTGAAAGCAAGTTTTAAATTCCAGACAGAATGGCTTCTCTGAAACATCGTTTTTCTTTTCTTTTGGGTTCCACCACCCCCTGTTCATATATTATGTATTAAACAAACATGTCCTTGGCACTTGCTCTTCACCAGGGATTGTGCTGGGCACTGGGGACTCAAAAATCATTTAGACATGGCCCTGCCTGAGAGAGGCCAGGAGAGACAAACAGGTGAACAGATGAGGGCTTCACAGAGTGACACATCTTGTGATAGAAGGAAGCACAGGAGAAGGCCCGAGGCAGGCACAGTGGAGGGAAGAGTTCATTTTACCCCAGGCTTAGGAAAGCCTCCGTAGAAGAAGGGACCATGGAGAGGCTGGCCGGGAGAAGTGTGGGTGCTGGCCAGTGGTGGGGCAGAGATGGGAGCTAAAGAGGGCTGAGAGCAAGTCGAGGTAAGGTAAAGCCAGAGGGATCTGGCCAGAGGGCTTGTTTGTGTCTTAAGCCAGCGAGATGGGAGTGTCTATTGCCAGCGAGGTGGGAGTCACTGAAGCTTTGAAGCAGGGGGTGGCTGGCTTCAGCTTCTGCTTTAGAAGGGCTGCCCAGGCACTGAGTGGAGGGTGGTGAAGAGCTACTGGGCTAATCCAGCAGGAACTTTATTAAGGCAACTGCAGTAGGATGGAGAGGTGAGGAAACGTGTGAGAGAAGCTGTGGTGGTCTACCATGGGGCGGCAGGTGGGGAGGAGGAGGGGGTCCAGGGTCAGTGCTGCTGAAATAAGCGCCCCAGAGCAAGATGCTCATGGGAGGGAGGGAGCCAATGCTCCTGTCCTCTGAATAGGTCCAATATTGAGAGGAGAGGCTTGGAGATGGAGGGTCTCCATGAGAGCCCAGGTTAGAGGACTTTGAGGGCCAGAATGTTCTTAGAACTGTGGGCCAGGATGCTAAGGAAGAGGGCCAGCCTGGATTCCGGTGGTCCACAGAACCCCCAACGCTGTGTGCAGTATCTTGTCCATGTCTGCCTTTCTCAGGGACAGGGTTCAGAATTTTCATAAGATTCTCCAAAGTATTGGTGACCTCCAAAAATGGTGACCTCTGGCCTAGAAATGGTGTGTAAAATGGGAAGAGAAAAGAGCTTTGGTGCCAAATCCTGGATCCTGCCCATATTTAAGGAGGAGCGGATGAGAAGAATTGGGACAAGAAAGCAGAGGAGGAATTGGATGGGCTTTGCAGAAGCAGGAGAAAATCATGTCATGGACGCCAAGAGAATCAGGAGTTTGTAAGCAGAGCGGGCTGTGTAGAGTTGGCAGGTGACAGTCTGCAGTCACGTGGCAGGTGGAAGGCAGGTCATCTGATGGCTCCAAGGGGAAGAGCAGGGTGAGAGCCTGAGGGTGTCAGGCAGGTTTGAGGTCCCTCCTGGCAGGGATGAGAGGAGGAGCAGCATGTATGGGGTTTACTGGGAGGCAATGGGGCCCTGAGATGGGGAGCCGCATTGATGAGGGGTGTTCATCTGGGTGCAGGCTTCCTCCTGGCAGAGCCAGACCGACACCGCAGTTGAGGCTGACAGAGTTTCATGATCTTNNN | benign | 79,772 |
Clinical classification of chromosome 4, position 5745188, gene EVC (EvC ciliary complex subunit 1): benign or pathogenic? Disease(s) if pathogenic? | benign | GTGGTTGTGCTGGTGGGAGTGTCTTATGCTAATGAGCAATGAGGGCAGCAAGGGATCACTTTCATCACCATCCACTGGTTCCTGCCGGTTTCTTCACTTTATCCTGTCTGGACCAGATCCCATTTTGATCAGCAGGGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATTGTTGTGATAGTCTTCATCAGCACCACCATCATCACCATCTTCATCAGCACCACCATCACCACCTTTATCATCTTTCCTGCTACCTCTACCTTCACCTTCATTAGAGTCCTCATTGTCATCGTCATCGTCCTTGTTCCTACCACTGTGAGATCTGGGGGTTTGGGAAGGAATGTTTCTTCTTTACTCCACTGGATTCCATGAGGAAGGATGACTCACTGCATCCCAGGAAGGAGGAAGGACATCATCATCTTCACTGTCATCCTCAGTATCACCACCATGGTCATGGTCCTCAGGCAGTGCACGTCGTGCTTGACATACATTATTTCATTTAATAGTTATGACAGCCCTGTGAGTGGCCATTGTTATTTTTGTTTTACAGCTGAAGAAACTGAGACTCCATAAGTTCAAATGACTTTCCAATGGCAAAAATGATAATGATGATGATGACATTTATAATGGTATTAGTAATAATGAAACAATACTGTCTGTTATAATAGAAAGAATAAGAGCCTTGGAGTCTGCAGACCTCAGATCAAATTCCATCTCTACGAGTTAAACAAGGCTGTCTGAACTTAAGCAAGCATGTTAATTATAATAGTGGCTACTATTTGTTGAGATAGGCTAGCCAAGTGATTTAAATGCATAATTTCATTTAACACTTGGAATGACCTTAAAACTTTCAGAAGAGGACAAGGAGTGCCCAGAATTTGGAAGAGTAAGGACAAGCCTGGCACTGCCCCTTCCTGCCTGGGCATCTTTGGACAAACTATCTTACCTTCCATAAACCAGCTTTCTCACCTGGAAATGGGTCATAATTTCTCTTTCACAGAGATGCCGTGAGGATTAGAAATCACATATGGCCTCAGCTTGGGTCTTCAATAGTAGTTTATATCAATGTTATTTTTCCTAGTGAACCTTGACCCATGCCACACTGTTGGCTATGTGACAATGAATATAGAGAAAATAGAACTGCCTCCCACACACTATCTTGGGGTTTGTGAGTCTATACTTAGGACTCACCTTTTCCTTCCTGAGTTCAGAATCATTTGAGAGAGTCAGGAGGACAGATATAGAAATGTAGCTTTGTTACTGATTAGAGGCCAGCTTGGACGATGTGGCTTACATGCACAGCTATCATGGCTTCCTAATACTGAATCCCAGAATTCACTCAATTGCCTAGCTAGTCACGGGCAATGCTGGGCCACCTCAGGCTTCCCCACACAGAAACAGGGCCTTGGCTACCCAGCTCACTCTAGGCTGATATCACACCAGAGCAATGGCCTCCCCTGATTGGCCCATCACAAACAGGAAGAGGCTGGGCAAGTTTCTGGCCTTTAAACCAACCAATCAAATACACACCACTTCCTGCCCTGGGGTGTTGTTCTTTCCCAGGAAAACCAGAAGAGGAGCAAAGAAACATTCCTTCCCAACCCACTGGATGTCATGATATTTTCCAGGACTTCATAATGATTGAAAGATACTATTTTATTGATTTTTAAAGTATGGTCTAGTTTTTTTTTTTTTTTTGAGGGAGGATATAGAGGAAAATAATCCATTATTCTTGAGGCTCTATGTTTAATGAGAAAATGGGTCAAACCTCATGTACAACAACCCCCAGAGCATTTAACTATTGTTTAAAAATATTTTGTGAAATTTGAAAAATAAAAGCATTTATTTTTCTAGAATTTAAGACACGCTAAACTTTTTCTTTGTTTATTTGCTTTCTTTTTTCTTCTTCTTCTTCAGGATTTGGAGGAACTAGAAAAGGGACTTCAGGTCAAACTGTCAAACACAGAAATGTCGGGGGCTGGTGACTCTGAGTACATCACCCTGGCTGATGTGGAAAAGAAGGAGAGAGAATACTCTGAACAGCTAATCGATAATGTGCGTGCCAGACTTTCTTTCCTGTACACAAATTTTGGTTCCTAAAACAGTTAAATTGGCTACATTAGAGAGATGATAGTTAGAAGTGTGCCTAATACTTGAATTCCCCTATCGCATTCTGCCCTAGAGGCAGGATCCAGTTTCTGATGCTAAGTGATAGGGAAGAAGTAATTAAGCAGCAAAGATTCACAAAGGGAGGTTTATTTTTTATATCATGAATTATCCTCATTTAAATTTCAGATTGGTCTTTTTATCATTCAAAGCAAAGGTTGCTATAACCCTTGATGTCATCACTGCCCTTTGGAATAGAGTAGAAGAAAGCTGCTAGGCATCACTCGTGAAAGCAAGTTTTAAATTCCAGACAGAATGGCTTCTCTGAAACATCGTTTTTCTTTTCTTTTGGGTTCCACCACCCCCTGTTCATATATTATGTATTAAACAAACATGTCCTTGGCACTTGCTCTTCACCAGGGATTGTGCTGGGCACTGGGGACTCAAAAATCATTTAGACATGGCCCTGCCTGAGAGAGGCCAGGAGAGACAAACAGGTGAACAGATGAGGGCTTCACAGAGTGACACATCTTGTGATAGAAGGAAGCACAGGAGAAGGCCCGAGGCAGGCACAGTGGAGGGAAGAGTTCATTTTACCCCAGGCTTAGGAAAGCCTCCGTAGAAGAAGGGACCATGGAGAGGCTGGCCGGGAGAAGTGTGGGTGCTGGCCAGTGGTGGGGCAGAGATGGGAGCTAAAGAGGGCTGAGAGCAAGTCGAGGTAAGGTAAAGCCAGAGGGATCTGGCCAGAGGGCTTGTTTGTGTCTTAAGCCAGCGAGATGGGAGTGTCTATTGCCAGCGAGGTGGGAGTCACTGAAGCTTTGAAGCAGGGGGTGGCTGGCTTCAGCTTCTGCTTTAGAAGGGCTGCCCAGGCACTGAGTGGAGGGTGGTGAAGAGCTACTGGGCTAATCCAGCAGGAACTTTATTAAGGCAACTGCAGTAGGATGGAGAGGTGAGGAAACGTGTGAGAGAAGCTGTGGTGGTCTACCATGGGGCGGCAGGTGGGGAGGAGGAGGGGGTCCAGGGTCAGTGCTGCTGAAATAAGCGCCCCAGAGCAAGATGCTCATGGGAGGGAGGGAGCCAATGCTCCTGTCCTCTGAATAGGTCCAATATTGAGAGGAGAGGCTTGGAGATGGAGGGTCTCCATGAGAGCCCAGGTTAGAGGACTTTGAGGGCCAGAATGTTCTTAGAACTGTGGGCCAGGATGCTAAGGAAGAGGGCCAGCCTGGATTCCGGTGGTCCACAGAACCCCCAACGCTGTGTGCAGTATCTTGTCCATGTCTGCCTTTCTCAGGGACAGGGTTCAGAATTTTCATAAGATTCTCCAAAGTATTGGTGACCTCCAAAAATGGTGACCTCTGGCCTAGAAATGGTGTGTAAAATGGGAAGAGAAAAGAGCTTTGGTGCCAAATCCTGGATCCTGCCCATATTTAAGGAGGAGCGGATGAGAAGAATTGGGACAAGAAAGCAGAGGAGGAATTGGATGGGCTTTGCAGAAGCAGGAGAAAATCATGTCATGGACGCCAAGAGAATCAGGAGTTTGTAAGCAGAGCGGGCTGTGTAGAGTTGGCAGGTGACAGTCTGCAGTCACGTGGCAGGTGGAAGGCAGGTCATCTGATGGCTCCAAGGGGAAGAGCAGGGTGAGAGCCTGAGGGTGTCAGGCAGGTTTGAGGTCCCTCCTGGCAGGGATGAGAGGAGGAGCAGCATGTATGGGGTTTACTGGGAGGCAATGGGGCCCTGAGATGGGGAGCCGCATTGATGAGGGGTGTTCATCTGGGTGCAGGCTTCCTCCTGGCAGAGCCAGACCGACACCGCAGTTGAGGCTGACAGAGTTTCATGATCTTGA | GTGGTTGTGCTGGTGGGAGTGTCTTATGCTAATGAGCAATGAGGGCAGCAAGGGATCACTTTCATCACCATCCACTGGTTCCTGCCGGTTTCTTCACTTTATCCTGTCTGGACCAGATCCCATTTTGATCAGCAGGGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATTGTTGTGATAGTCTTCATCAGCACCACCATCATCACCATCTTCATCAGCACCACCATCACCACCTTTATCATCTTTCCTGCTACCTCTACCTTCACCTTCATTAGAGTCCTCATTGTCATCGTCATCGTCCTTGTTCCTACCACTGTGAGATCTGGGGGTTTGGGAAGGAATGTTTCTTCTTTACTCCACTGGATTCCATGAGGAAGGATGACTCACTGCATCCCAGGAAGGAGGAAGGACATCATCATCTTCACTGTCATCCTCAGTATCACCACCATGGTCATGGTCCTCAGGCAGTGCACGTCGTGCTTGACATACATTATTTCATTTAATAGTTATGACAGCCCTGTGAGTGGCCATTGTTATTTTTGTTTTACAGCTGAAGAAACTGAGACTCCATAAGTTCAAATGACTTTCCAATGGCAAAAATGATAATGATGATGATGACATTTATAATGGTATTAGTAATAATGAAACAATACTGTCTGTTATAATAGAAAGAATAAGAGCCTTGGAGTCTGCAGACCTCAGATCAAATTCCATCTCTACGAGTTAAACAAGGCTGTCTGAACTTAAGCAAGCATGTTAATTATAATAGTGGCTACTATTTGTTGAGATAGGCTAGCCAAGTGATTTAAATGCATAATTTCATTTAACACTTGGAATGACCTTAAAACTTTCAGAAGAGGACAAGGAGTGCCCAGAATTTGGAAGAGTAAGGACAAGCCTGGCACTGCCCCTTCCTGCCTGGGCATCTTTGGACAAACTATCTTACCTTCCATAAACCAGCTTTCTCACCTGGAAATGGGTCATAATTTCTCTTTCACAGAGATGCCGTGAGGATTAGAAATCACATATGGCCTCAGCTTGGGTCTTCAATAGTAGTTTATATCAATGTTATTTTTCCTAGTGAACCTTGACCCATGCCACACTGTTGGCTATGTGACAATGAATATAGAGAAAATAGAACTGCCTCCCACACACTATCTTGGGGTTTGTGAGTCTATACTTAGGACTCACCTTTTCCTTCCTGAGTTCAGAATCATTTGAGAGAGTCAGGAGGACAGATATAGAAATGTAGCTTTGTTACTGATTAGAGGCCAGCTTGGACGATGTGGCTTACATGCACAGCTATCATGGCTTCCTAATACTGAATCCCAGAATTCACTCAATTGCCTAGCTAGTCACGGGCAATGCTGGGCCACCTCAGGCTTCCCCACACAGAAACAGGGCCTTGGCTACCCAGCTCACTCTAGGCTGATATCACACCAGAGCAATGGCCTCCCCTGATTGGCCCATCACAAACAGGAAGAGGCTGGGCAAGTTTCTGGCCTTTAAACCAACCAATCAAATACACACCACTTCCTGCCCTGGGGTGTTGTTCTTTCCCAGGAAAACCAGAAGAGGAGCAAAGAAACATTCCTTCCCAACCCACTGGATGTCATGATATTTTCCAGGACTTCATAATGATTGAAAGATACTATTTTATTGATTTTTAAAGTATGGTCTAGTTTTTTTTTTTTTTTTGAGGGAGGATATAGAGGAAAATAATCCATTATTCTTGAGGCTCTATGTTTAATGAGAAAATGGGTCAAACCTCATGTACAACAACCCCCAGAGCATTTAACTATTGTTTAAAAATATTTTGTGAAATTTGAAAAATAAAAGCATTTATTTTTCTAGAATTTAAGACACGCTAAACTTTTTCTTTGTTTATTTGCTTTCTTTTTTTTCTTCTTCTTCAGGATTTGGAGGAACTAGAAAAGGGACTTCAGGTCAAACTGTCAAACACAGAAATGTCGGGGGCTGGTGACTCTGAGTACATCACCCTGGCTGATGTGGAAAAGAAGGAGAGAGAATACTCTGAACAGCTAATCGATAATGTGCGTGCCAGACTTTCTTTCCTGTACACAAATTTTGGTTCCTAAAACAGTTAAATTGGCTACATTAGAGAGATGATAGTTAGAAGTGTGCCTAATACTTGAATTCCCCTATCGCATTCTGCCCTAGAGGCAGGATCCAGTTTCTGATGCTAAGTGATAGGGAAGAAGTAATTAAGCAGCAAAGATTCACAAAGGGAGGTTTATTTTTTATATCATGAATTATCCTCATTTAAATTTCAGATTGGTCTTTTTATCATTCAAAGCAAAGGTTGCTATAACCCTTGATGTCATCACTGCCCTTTGGAATAGAGTAGAAGAAAGCTGCTAGGCATCACTCGTGAAAGCAAGTTTTAAATTCCAGACAGAATGGCTTCTCTGAAACATCGTTTTTCTTTTCTTTTGGGTTCCACCACCCCCTGTTCATATATTATGTATTAAACAAACATGTCCTTGGCACTTGCTCTTCACCAGGGATTGTGCTGGGCACTGGGGACTCAAAAATCATTTAGACATGGCCCTGCCTGAGAGAGGCCAGGAGAGACAAACAGGTGAACAGATGAGGGCTTCACAGAGTGACACATCTTGTGATAGAAGGAAGCACAGGAGAAGGCCCGAGGCAGGCACAGTGGAGGGAAGAGTTCATTTTACCCCAGGCTTAGGAAAGCCTCCGTAGAAGAAGGGACCATGGAGAGGCTGGCCGGGAGAAGTGTGGGTGCTGGCCAGTGGTGGGGCAGAGATGGGAGCTAAAGAGGGCTGAGAGCAAGTCGAGGTAAGGTAAAGCCAGAGGGATCTGGCCAGAGGGCTTGTTTGTGTCTTAAGCCAGCGAGATGGGAGTGTCTATTGCCAGCGAGGTGGGAGTCACTGAAGCTTTGAAGCAGGGGGTGGCTGGCTTCAGCTTCTGCTTTAGAAGGGCTGCCCAGGCACTGAGTGGAGGGTGGTGAAGAGCTACTGGGCTAATCCAGCAGGAACTTTATTAAGGCAACTGCAGTAGGATGGAGAGGTGAGGAAACGTGTGAGAGAAGCTGTGGTGGTCTACCATGGGGCGGCAGGTGGGGAGGAGGAGGGGGTCCAGGGTCAGTGCTGCTGAAATAAGCGCCCCAGAGCAAGATGCTCATGGGAGGGAGGGAGCCAATGCTCCTGTCCTCTGAATAGGTCCAATATTGAGAGGAGAGGCTTGGAGATGGAGGGTCTCCATGAGAGCCCAGGTTAGAGGACTTTGAGGGCCAGAATGTTCTTAGAACTGTGGGCCAGGATGCTAAGGAAGAGGGCCAGCCTGGATTCCGGTGGTCCACAGAACCCCCAACGCTGTGTGCAGTATCTTGTCCATGTCTGCCTTTCTCAGGGACAGGGTTCAGAATTTTCATAAGATTCTCCAAAGTATTGGTGACCTCCAAAAATGGTGACCTCTGGCCTAGAAATGGTGTGTAAAATGGGAAGAGAAAAGAGCTTTGGTGCCAAATCCTGGATCCTGCCCATATTTAAGGAGGAGCGGATGAGAAGAATTGGGACAAGAAAGCAGAGGAGGAATTGGATGGGCTTTGCAGAAGCAGGAGAAAATCATGTCATGGACGCCAAGAGAATCAGGAGTTTGTAAGCAGAGCGGGCTGTGTAGAGTTGGCAGGTGACAGTCTGCAGTCACGTGGCAGGTGGAAGGCAGGTCATCTGATGGCTCCAAGGGGAAGAGCAGGGTGAGAGCCTGAGGGTGTCAGGCAGGTTTGAGGTCCCTCCTGGCAGGGATGAGAGGAGGAGCAGCATGTATGGGGTTTACTGGGAGGCAATGGGGCCCTGAGATGGGGAGCCGCATTGATGAGGGGTGTTCATCTGGGTGCAGGCTTCCTCCTGGCAGAGCCAGACCGACACCGCAGTTGAGGCTGACAGAGTTTCATGATCTTGAN | benign | 79,773 |
Evaluate the clinical significance of the mutation at chromosome 4, position 5745190 in gene EVC (EvC ciliary complex subunit 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GGTTGTGCTGGTGGGAGTGTCTTATGCTAATGAGCAATGAGGGCAGCAAGGGATCACTTTCATCACCATCCACTGGTTCCTGCCGGTTTCTTCACTTTATCCTGTCTGGACCAGATCCCATTTTGATCAGCAGGGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATTGTTGTGATAGTCTTCATCAGCACCACCATCATCACCATCTTCATCAGCACCACCATCACCACCTTTATCATCTTTCCTGCTACCTCTACCTTCACCTTCATTAGAGTCCTCATTGTCATCGTCATCGTCCTTGTTCCTACCACTGTGAGATCTGGGGGTTTGGGAAGGAATGTTTCTTCTTTACTCCACTGGATTCCATGAGGAAGGATGACTCACTGCATCCCAGGAAGGAGGAAGGACATCATCATCTTCACTGTCATCCTCAGTATCACCACCATGGTCATGGTCCTCAGGCAGTGCACGTCGTGCTTGACATACATTATTTCATTTAATAGTTATGACAGCCCTGTGAGTGGCCATTGTTATTTTTGTTTTACAGCTGAAGAAACTGAGACTCCATAAGTTCAAATGACTTTCCAATGGCAAAAATGATAATGATGATGATGACATTTATAATGGTATTAGTAATAATGAAACAATACTGTCTGTTATAATAGAAAGAATAAGAGCCTTGGAGTCTGCAGACCTCAGATCAAATTCCATCTCTACGAGTTAAACAAGGCTGTCTGAACTTAAGCAAGCATGTTAATTATAATAGTGGCTACTATTTGTTGAGATAGGCTAGCCAAGTGATTTAAATGCATAATTTCATTTAACACTTGGAATGACCTTAAAACTTTCAGAAGAGGACAAGGAGTGCCCAGAATTTGGAAGAGTAAGGACAAGCCTGGCACTGCCCCTTCCTGCCTGGGCATCTTTGGACAAACTATCTTACCTTCCATAAACCAGCTTTCTCACCTGGAAATGGGTCATAATTTCTCTTTCACAGAGATGCCGTGAGGATTAGAAATCACATATGGCCTCAGCTTGGGTCTTCAATAGTAGTTTATATCAATGTTATTTTTCCTAGTGAACCTTGACCCATGCCACACTGTTGGCTATGTGACAATGAATATAGAGAAAATAGAACTGCCTCCCACACACTATCTTGGGGTTTGTGAGTCTATACTTAGGACTCACCTTTTCCTTCCTGAGTTCAGAATCATTTGAGAGAGTCAGGAGGACAGATATAGAAATGTAGCTTTGTTACTGATTAGAGGCCAGCTTGGACGATGTGGCTTACATGCACAGCTATCATGGCTTCCTAATACTGAATCCCAGAATTCACTCAATTGCCTAGCTAGTCACGGGCAATGCTGGGCCACCTCAGGCTTCCCCACACAGAAACAGGGCCTTGGCTACCCAGCTCACTCTAGGCTGATATCACACCAGAGCAATGGCCTCCCCTGATTGGCCCATCACAAACAGGAAGAGGCTGGGCAAGTTTCTGGCCTTTAAACCAACCAATCAAATACACACCACTTCCTGCCCTGGGGTGTTGTTCTTTCCCAGGAAAACCAGAAGAGGAGCAAAGAAACATTCCTTCCCAACCCACTGGATGTCATGATATTTTCCAGGACTTCATAATGATTGAAAGATACTATTTTATTGATTTTTAAAGTATGGTCTAGTTTTTTTTTTTTTTTTGAGGGAGGATATAGAGGAAAATAATCCATTATTCTTGAGGCTCTATGTTTAATGAGAAAATGGGTCAAACCTCATGTACAACAACCCCCAGAGCATTTAACTATTGTTTAAAAATATTTTGTGAAATTTGAAAAATAAAAGCATTTATTTTTCTAGAATTTAAGACACGCTAAACTTTTTCTTTGTTTATTTGCTTTCTTTTTTCTTCTTCTTCTTCAGGATTTGGAGGAACTAGAAAAGGGACTTCAGGTCAAACTGTCAAACACAGAAATGTCGGGGGCTGGTGACTCTGAGTACATCACCCTGGCTGATGTGGAAAAGAAGGAGAGAGAATACTCTGAACAGCTAATCGATAATGTGCGTGCCAGACTTTCTTTCCTGTACACAAATTTTGGTTCCTAAAACAGTTAAATTGGCTACATTAGAGAGATGATAGTTAGAAGTGTGCCTAATACTTGAATTCCCCTATCGCATTCTGCCCTAGAGGCAGGATCCAGTTTCTGATGCTAAGTGATAGGGAAGAAGTAATTAAGCAGCAAAGATTCACAAAGGGAGGTTTATTTTTTATATCATGAATTATCCTCATTTAAATTTCAGATTGGTCTTTTTATCATTCAAAGCAAAGGTTGCTATAACCCTTGATGTCATCACTGCCCTTTGGAATAGAGTAGAAGAAAGCTGCTAGGCATCACTCGTGAAAGCAAGTTTTAAATTCCAGACAGAATGGCTTCTCTGAAACATCGTTTTTCTTTTCTTTTGGGTTCCACCACCCCCTGTTCATATATTATGTATTAAACAAACATGTCCTTGGCACTTGCTCTTCACCAGGGATTGTGCTGGGCACTGGGGACTCAAAAATCATTTAGACATGGCCCTGCCTGAGAGAGGCCAGGAGAGACAAACAGGTGAACAGATGAGGGCTTCACAGAGTGACACATCTTGTGATAGAAGGAAGCACAGGAGAAGGCCCGAGGCAGGCACAGTGGAGGGAAGAGTTCATTTTACCCCAGGCTTAGGAAAGCCTCCGTAGAAGAAGGGACCATGGAGAGGCTGGCCGGGAGAAGTGTGGGTGCTGGCCAGTGGTGGGGCAGAGATGGGAGCTAAAGAGGGCTGAGAGCAAGTCGAGGTAAGGTAAAGCCAGAGGGATCTGGCCAGAGGGCTTGTTTGTGTCTTAAGCCAGCGAGATGGGAGTGTCTATTGCCAGCGAGGTGGGAGTCACTGAAGCTTTGAAGCAGGGGGTGGCTGGCTTCAGCTTCTGCTTTAGAAGGGCTGCCCAGGCACTGAGTGGAGGGTGGTGAAGAGCTACTGGGCTAATCCAGCAGGAACTTTATTAAGGCAACTGCAGTAGGATGGAGAGGTGAGGAAACGTGTGAGAGAAGCTGTGGTGGTCTACCATGGGGCGGCAGGTGGGGAGGAGGAGGGGGTCCAGGGTCAGTGCTGCTGAAATAAGCGCCCCAGAGCAAGATGCTCATGGGAGGGAGGGAGCCAATGCTCCTGTCCTCTGAATAGGTCCAATATTGAGAGGAGAGGCTTGGAGATGGAGGGTCTCCATGAGAGCCCAGGTTAGAGGACTTTGAGGGCCAGAATGTTCTTAGAACTGTGGGCCAGGATGCTAAGGAAGAGGGCCAGCCTGGATTCCGGTGGTCCACAGAACCCCCAACGCTGTGTGCAGTATCTTGTCCATGTCTGCCTTTCTCAGGGACAGGGTTCAGAATTTTCATAAGATTCTCCAAAGTATTGGTGACCTCCAAAAATGGTGACCTCTGGCCTAGAAATGGTGTGTAAAATGGGAAGAGAAAAGAGCTTTGGTGCCAAATCCTGGATCCTGCCCATATTTAAGGAGGAGCGGATGAGAAGAATTGGGACAAGAAAGCAGAGGAGGAATTGGATGGGCTTTGCAGAAGCAGGAGAAAATCATGTCATGGACGCCAAGAGAATCAGGAGTTTGTAAGCAGAGCGGGCTGTGTAGAGTTGGCAGGTGACAGTCTGCAGTCACGTGGCAGGTGGAAGGCAGGTCATCTGATGGCTCCAAGGGGAAGAGCAGGGTGAGAGCCTGAGGGTGTCAGGCAGGTTTGAGGTCCCTCCTGGCAGGGATGAGAGGAGGAGCAGCATGTATGGGGTTTACTGGGAGGCAATGGGGCCCTGAGATGGGGAGCCGCATTGATGAGGGGTGTTCATCTGGGTGCAGGCTTCCTCCTGGCAGAGCCAGACCGACACCGCAGTTGAGGCTGACAGAGTTTCATGATCTTGAGT | GGTTGTGCTGGTGGGAGTGTCTTATGCTAATGAGCAATGAGGGCAGCAAGGGATCACTTTCATCACCATCCACTGGTTCCTGCCGGTTTCTTCACTTTATCCTGTCTGGACCAGATCCCATTTTGATCAGCAGGGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATTGTTGTGATAGTCTTCATCAGCACCACCATCATCACCATCTTCATCAGCACCACCATCACCACCTTTATCATCTTTCCTGCTACCTCTACCTTCACCTTCATTAGAGTCCTCATTGTCATCGTCATCGTCCTTGTTCCTACCACTGTGAGATCTGGGGGTTTGGGAAGGAATGTTTCTTCTTTACTCCACTGGATTCCATGAGGAAGGATGACTCACTGCATCCCAGGAAGGAGGAAGGACATCATCATCTTCACTGTCATCCTCAGTATCACCACCATGGTCATGGTCCTCAGGCAGTGCACGTCGTGCTTGACATACATTATTTCATTTAATAGTTATGACAGCCCTGTGAGTGGCCATTGTTATTTTTGTTTTACAGCTGAAGAAACTGAGACTCCATAAGTTCAAATGACTTTCCAATGGCAAAAATGATAATGATGATGATGACATTTATAATGGTATTAGTAATAATGAAACAATACTGTCTGTTATAATAGAAAGAATAAGAGCCTTGGAGTCTGCAGACCTCAGATCAAATTCCATCTCTACGAGTTAAACAAGGCTGTCTGAACTTAAGCAAGCATGTTAATTATAATAGTGGCTACTATTTGTTGAGATAGGCTAGCCAAGTGATTTAAATGCATAATTTCATTTAACACTTGGAATGACCTTAAAACTTTCAGAAGAGGACAAGGAGTGCCCAGAATTTGGAAGAGTAAGGACAAGCCTGGCACTGCCCCTTCCTGCCTGGGCATCTTTGGACAAACTATCTTACCTTCCATAAACCAGCTTTCTCACCTGGAAATGGGTCATAATTTCTCTTTCACAGAGATGCCGTGAGGATTAGAAATCACATATGGCCTCAGCTTGGGTCTTCAATAGTAGTTTATATCAATGTTATTTTTCCTAGTGAACCTTGACCCATGCCACACTGTTGGCTATGTGACAATGAATATAGAGAAAATAGAACTGCCTCCCACACACTATCTTGGGGTTTGTGAGTCTATACTTAGGACTCACCTTTTCCTTCCTGAGTTCAGAATCATTTGAGAGAGTCAGGAGGACAGATATAGAAATGTAGCTTTGTTACTGATTAGAGGCCAGCTTGGACGATGTGGCTTACATGCACAGCTATCATGGCTTCCTAATACTGAATCCCAGAATTCACTCAATTGCCTAGCTAGTCACGGGCAATGCTGGGCCACCTCAGGCTTCCCCACACAGAAACAGGGCCTTGGCTACCCAGCTCACTCTAGGCTGATATCACACCAGAGCAATGGCCTCCCCTGATTGGCCCATCACAAACAGGAAGAGGCTGGGCAAGTTTCTGGCCTTTAAACCAACCAATCAAATACACACCACTTCCTGCCCTGGGGTGTTGTTCTTTCCCAGGAAAACCAGAAGAGGAGCAAAGAAACATTCCTTCCCAACCCACTGGATGTCATGATATTTTCCAGGACTTCATAATGATTGAAAGATACTATTTTATTGATTTTTAAAGTATGGTCTAGTTTTTTTTTTTTTTTTGAGGGAGGATATAGAGGAAAATAATCCATTATTCTTGAGGCTCTATGTTTAATGAGAAAATGGGTCAAACCTCATGTACAACAACCCCCAGAGCATTTAACTATTGTTTAAAAATATTTTGTGAAATTTGAAAAATAAAAGCATTTATTTTTCTAGAATTTAAGACACGCTAAACTTTTTCTTTGTTTATTTGCTTTCTTTTTTCTTTCTTCTTCAGGATTTGGAGGAACTAGAAAAGGGACTTCAGGTCAAACTGTCAAACACAGAAATGTCGGGGGCTGGTGACTCTGAGTACATCACCCTGGCTGATGTGGAAAAGAAGGAGAGAGAATACTCTGAACAGCTAATCGATAATGTGCGTGCCAGACTTTCTTTCCTGTACACAAATTTTGGTTCCTAAAACAGTTAAATTGGCTACATTAGAGAGATGATAGTTAGAAGTGTGCCTAATACTTGAATTCCCCTATCGCATTCTGCCCTAGAGGCAGGATCCAGTTTCTGATGCTAAGTGATAGGGAAGAAGTAATTAAGCAGCAAAGATTCACAAAGGGAGGTTTATTTTTTATATCATGAATTATCCTCATTTAAATTTCAGATTGGTCTTTTTATCATTCAAAGCAAAGGTTGCTATAACCCTTGATGTCATCACTGCCCTTTGGAATAGAGTAGAAGAAAGCTGCTAGGCATCACTCGTGAAAGCAAGTTTTAAATTCCAGACAGAATGGCTTCTCTGAAACATCGTTTTTCTTTTCTTTTGGGTTCCACCACCCCCTGTTCATATATTATGTATTAAACAAACATGTCCTTGGCACTTGCTCTTCACCAGGGATTGTGCTGGGCACTGGGGACTCAAAAATCATTTAGACATGGCCCTGCCTGAGAGAGGCCAGGAGAGACAAACAGGTGAACAGATGAGGGCTTCACAGAGTGACACATCTTGTGATAGAAGGAAGCACAGGAGAAGGCCCGAGGCAGGCACAGTGGAGGGAAGAGTTCATTTTACCCCAGGCTTAGGAAAGCCTCCGTAGAAGAAGGGACCATGGAGAGGCTGGCCGGGAGAAGTGTGGGTGCTGGCCAGTGGTGGGGCAGAGATGGGAGCTAAAGAGGGCTGAGAGCAAGTCGAGGTAAGGTAAAGCCAGAGGGATCTGGCCAGAGGGCTTGTTTGTGTCTTAAGCCAGCGAGATGGGAGTGTCTATTGCCAGCGAGGTGGGAGTCACTGAAGCTTTGAAGCAGGGGGTGGCTGGCTTCAGCTTCTGCTTTAGAAGGGCTGCCCAGGCACTGAGTGGAGGGTGGTGAAGAGCTACTGGGCTAATCCAGCAGGAACTTTATTAAGGCAACTGCAGTAGGATGGAGAGGTGAGGAAACGTGTGAGAGAAGCTGTGGTGGTCTACCATGGGGCGGCAGGTGGGGAGGAGGAGGGGGTCCAGGGTCAGTGCTGCTGAAATAAGCGCCCCAGAGCAAGATGCTCATGGGAGGGAGGGAGCCAATGCTCCTGTCCTCTGAATAGGTCCAATATTGAGAGGAGAGGCTTGGAGATGGAGGGTCTCCATGAGAGCCCAGGTTAGAGGACTTTGAGGGCCAGAATGTTCTTAGAACTGTGGGCCAGGATGCTAAGGAAGAGGGCCAGCCTGGATTCCGGTGGTCCACAGAACCCCCAACGCTGTGTGCAGTATCTTGTCCATGTCTGCCTTTCTCAGGGACAGGGTTCAGAATTTTCATAAGATTCTCCAAAGTATTGGTGACCTCCAAAAATGGTGACCTCTGGCCTAGAAATGGTGTGTAAAATGGGAAGAGAAAAGAGCTTTGGTGCCAAATCCTGGATCCTGCCCATATTTAAGGAGGAGCGGATGAGAAGAATTGGGACAAGAAAGCAGAGGAGGAATTGGATGGGCTTTGCAGAAGCAGGAGAAAATCATGTCATGGACGCCAAGAGAATCAGGAGTTTGTAAGCAGAGCGGGCTGTGTAGAGTTGGCAGGTGACAGTCTGCAGTCACGTGGCAGGTGGAAGGCAGGTCATCTGATGGCTCCAAGGGGAAGAGCAGGGTGAGAGCCTGAGGGTGTCAGGCAGGTTTGAGGTCCCTCCTGGCAGGGATGAGAGGAGGAGCAGCATGTATGGGGTTTACTGGGAGGCAATGGGGCCCTGAGATGGGGAGCCGCATTGATGAGGGGTGTTCATCTGGGTGCAGGCTTCCTCCTGGCAGAGCCAGACCGACACCGCAGTTGAGGCTGACAGAGTTTCATGATCTTGAGTNN | benign | 79,775 |
Is the chromosome 4, position 5745274 variant in EVC (EvC ciliary complex subunit 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | GGTTTCTTCACTTTATCCTGTCTGGACCAGATCCCATTTTGATCAGCAGGGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATTGTTGTGATAGTCTTCATCAGCACCACCATCATCACCATCTTCATCAGCACCACCATCACCACCTTTATCATCTTTCCTGCTACCTCTACCTTCACCTTCATTAGAGTCCTCATTGTCATCGTCATCGTCCTTGTTCCTACCACTGTGAGATCTGGGGGTTTGGGAAGGAATGTTTCTTCTTTACTCCACTGGATTCCATGAGGAAGGATGACTCACTGCATCCCAGGAAGGAGGAAGGACATCATCATCTTCACTGTCATCCTCAGTATCACCACCATGGTCATGGTCCTCAGGCAGTGCACGTCGTGCTTGACATACATTATTTCATTTAATAGTTATGACAGCCCTGTGAGTGGCCATTGTTATTTTTGTTTTACAGCTGAAGAAACTGAGACTCCATAAGTTCAAATGACTTTCCAATGGCAAAAATGATAATGATGATGATGACATTTATAATGGTATTAGTAATAATGAAACAATACTGTCTGTTATAATAGAAAGAATAAGAGCCTTGGAGTCTGCAGACCTCAGATCAAATTCCATCTCTACGAGTTAAACAAGGCTGTCTGAACTTAAGCAAGCATGTTAATTATAATAGTGGCTACTATTTGTTGAGATAGGCTAGCCAAGTGATTTAAATGCATAATTTCATTTAACACTTGGAATGACCTTAAAACTTTCAGAAGAGGACAAGGAGTGCCCAGAATTTGGAAGAGTAAGGACAAGCCTGGCACTGCCCCTTCCTGCCTGGGCATCTTTGGACAAACTATCTTACCTTCCATAAACCAGCTTTCTCACCTGGAAATGGGTCATAATTTCTCTTTCACAGAGATGCCGTGAGGATTAGAAATCACATATGGCCTCAGCTTGGGTCTTCAATAGTAGTTTATATCAATGTTATTTTTCCTAGTGAACCTTGACCCATGCCACACTGTTGGCTATGTGACAATGAATATAGAGAAAATAGAACTGCCTCCCACACACTATCTTGGGGTTTGTGAGTCTATACTTAGGACTCACCTTTTCCTTCCTGAGTTCAGAATCATTTGAGAGAGTCAGGAGGACAGATATAGAAATGTAGCTTTGTTACTGATTAGAGGCCAGCTTGGACGATGTGGCTTACATGCACAGCTATCATGGCTTCCTAATACTGAATCCCAGAATTCACTCAATTGCCTAGCTAGTCACGGGCAATGCTGGGCCACCTCAGGCTTCCCCACACAGAAACAGGGCCTTGGCTACCCAGCTCACTCTAGGCTGATATCACACCAGAGCAATGGCCTCCCCTGATTGGCCCATCACAAACAGGAAGAGGCTGGGCAAGTTTCTGGCCTTTAAACCAACCAATCAAATACACACCACTTCCTGCCCTGGGGTGTTGTTCTTTCCCAGGAAAACCAGAAGAGGAGCAAAGAAACATTCCTTCCCAACCCACTGGATGTCATGATATTTTCCAGGACTTCATAATGATTGAAAGATACTATTTTATTGATTTTTAAAGTATGGTCTAGTTTTTTTTTTTTTTTTGAGGGAGGATATAGAGGAAAATAATCCATTATTCTTGAGGCTCTATGTTTAATGAGAAAATGGGTCAAACCTCATGTACAACAACCCCCAGAGCATTTAACTATTGTTTAAAAATATTTTGTGAAATTTGAAAAATAAAAGCATTTATTTTTCTAGAATTTAAGACACGCTAAACTTTTTCTTTGTTTATTTGCTTTCTTTTTTCTTCTTCTTCTTCAGGATTTGGAGGAACTAGAAAAGGGACTTCAGGTCAAACTGTCAAACACAGAAATGTCGGGGGCTGGTGACTCTGAGTACATCACCCTGGCTGATGTGGAAAAGAAGGAGAGAGAATACTCTGAACAGCTAATCGATAATGTGCGTGCCAGACTTTCTTTCCTGTACACAAATTTTGGTTCCTAAAACAGTTAAATTGGCTACATTAGAGAGATGATAGTTAGAAGTGTGCCTAATACTTGAATTCCCCTATCGCATTCTGCCCTAGAGGCAGGATCCAGTTTCTGATGCTAAGTGATAGGGAAGAAGTAATTAAGCAGCAAAGATTCACAAAGGGAGGTTTATTTTTTATATCATGAATTATCCTCATTTAAATTTCAGATTGGTCTTTTTATCATTCAAAGCAAAGGTTGCTATAACCCTTGATGTCATCACTGCCCTTTGGAATAGAGTAGAAGAAAGCTGCTAGGCATCACTCGTGAAAGCAAGTTTTAAATTCCAGACAGAATGGCTTCTCTGAAACATCGTTTTTCTTTTCTTTTGGGTTCCACCACCCCCTGTTCATATATTATGTATTAAACAAACATGTCCTTGGCACTTGCTCTTCACCAGGGATTGTGCTGGGCACTGGGGACTCAAAAATCATTTAGACATGGCCCTGCCTGAGAGAGGCCAGGAGAGACAAACAGGTGAACAGATGAGGGCTTCACAGAGTGACACATCTTGTGATAGAAGGAAGCACAGGAGAAGGCCCGAGGCAGGCACAGTGGAGGGAAGAGTTCATTTTACCCCAGGCTTAGGAAAGCCTCCGTAGAAGAAGGGACCATGGAGAGGCTGGCCGGGAGAAGTGTGGGTGCTGGCCAGTGGTGGGGCAGAGATGGGAGCTAAAGAGGGCTGAGAGCAAGTCGAGGTAAGGTAAAGCCAGAGGGATCTGGCCAGAGGGCTTGTTTGTGTCTTAAGCCAGCGAGATGGGAGTGTCTATTGCCAGCGAGGTGGGAGTCACTGAAGCTTTGAAGCAGGGGGTGGCTGGCTTCAGCTTCTGCTTTAGAAGGGCTGCCCAGGCACTGAGTGGAGGGTGGTGAAGAGCTACTGGGCTAATCCAGCAGGAACTTTATTAAGGCAACTGCAGTAGGATGGAGAGGTGAGGAAACGTGTGAGAGAAGCTGTGGTGGTCTACCATGGGGCGGCAGGTGGGGAGGAGGAGGGGGTCCAGGGTCAGTGCTGCTGAAATAAGCGCCCCAGAGCAAGATGCTCATGGGAGGGAGGGAGCCAATGCTCCTGTCCTCTGAATAGGTCCAATATTGAGAGGAGAGGCTTGGAGATGGAGGGTCTCCATGAGAGCCCAGGTTAGAGGACTTTGAGGGCCAGAATGTTCTTAGAACTGTGGGCCAGGATGCTAAGGAAGAGGGCCAGCCTGGATTCCGGTGGTCCACAGAACCCCCAACGCTGTGTGCAGTATCTTGTCCATGTCTGCCTTTCTCAGGGACAGGGTTCAGAATTTTCATAAGATTCTCCAAAGTATTGGTGACCTCCAAAAATGGTGACCTCTGGCCTAGAAATGGTGTGTAAAATGGGAAGAGAAAAGAGCTTTGGTGCCAAATCCTGGATCCTGCCCATATTTAAGGAGGAGCGGATGAGAAGAATTGGGACAAGAAAGCAGAGGAGGAATTGGATGGGCTTTGCAGAAGCAGGAGAAAATCATGTCATGGACGCCAAGAGAATCAGGAGTTTGTAAGCAGAGCGGGCTGTGTAGAGTTGGCAGGTGACAGTCTGCAGTCACGTGGCAGGTGGAAGGCAGGTCATCTGATGGCTCCAAGGGGAAGAGCAGGGTGAGAGCCTGAGGGTGTCAGGCAGGTTTGAGGTCCCTCCTGGCAGGGATGAGAGGAGGAGCAGCATGTATGGGGTTTACTGGGAGGCAATGGGGCCCTGAGATGGGGAGCCGCATTGATGAGGGGTGTTCATCTGGGTGCAGGCTTCCTCCTGGCAGAGCCAGACCGACACCGCAGTTGAGGCTGACAGAGTTTCATGATCTTGAGTCACAGCAACAAAATCATGGGTTTCTGGTGACACTAACCCCTGCCCCCTCCCATGCCCAGTCCAGCCAGAAGTGTCCATTTCAGC | GGTTTCTTCACTTTATCCTGTCTGGACCAGATCCCATTTTGATCAGCAGGGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATTGTTGTGATAGTCTTCATCAGCACCACCATCATCACCATCTTCATCAGCACCACCATCACCACCTTTATCATCTTTCCTGCTACCTCTACCTTCACCTTCATTAGAGTCCTCATTGTCATCGTCATCGTCCTTGTTCCTACCACTGTGAGATCTGGGGGTTTGGGAAGGAATGTTTCTTCTTTACTCCACTGGATTCCATGAGGAAGGATGACTCACTGCATCCCAGGAAGGAGGAAGGACATCATCATCTTCACTGTCATCCTCAGTATCACCACCATGGTCATGGTCCTCAGGCAGTGCACGTCGTGCTTGACATACATTATTTCATTTAATAGTTATGACAGCCCTGTGAGTGGCCATTGTTATTTTTGTTTTACAGCTGAAGAAACTGAGACTCCATAAGTTCAAATGACTTTCCAATGGCAAAAATGATAATGATGATGATGACATTTATAATGGTATTAGTAATAATGAAACAATACTGTCTGTTATAATAGAAAGAATAAGAGCCTTGGAGTCTGCAGACCTCAGATCAAATTCCATCTCTACGAGTTAAACAAGGCTGTCTGAACTTAAGCAAGCATGTTAATTATAATAGTGGCTACTATTTGTTGAGATAGGCTAGCCAAGTGATTTAAATGCATAATTTCATTTAACACTTGGAATGACCTTAAAACTTTCAGAAGAGGACAAGGAGTGCCCAGAATTTGGAAGAGTAAGGACAAGCCTGGCACTGCCCCTTCCTGCCTGGGCATCTTTGGACAAACTATCTTACCTTCCATAAACCAGCTTTCTCACCTGGAAATGGGTCATAATTTCTCTTTCACAGAGATGCCGTGAGGATTAGAAATCACATATGGCCTCAGCTTGGGTCTTCAATAGTAGTTTATATCAATGTTATTTTTCCTAGTGAACCTTGACCCATGCCACACTGTTGGCTATGTGACAATGAATATAGAGAAAATAGAACTGCCTCCCACACACTATCTTGGGGTTTGTGAGTCTATACTTAGGACTCACCTTTTCCTTCCTGAGTTCAGAATCATTTGAGAGAGTCAGGAGGACAGATATAGAAATGTAGCTTTGTTACTGATTAGAGGCCAGCTTGGACGATGTGGCTTACATGCACAGCTATCATGGCTTCCTAATACTGAATCCCAGAATTCACTCAATTGCCTAGCTAGTCACGGGCAATGCTGGGCCACCTCAGGCTTCCCCACACAGAAACAGGGCCTTGGCTACCCAGCTCACTCTAGGCTGATATCACACCAGAGCAATGGCCTCCCCTGATTGGCCCATCACAAACAGGAAGAGGCTGGGCAAGTTTCTGGCCTTTAAACCAACCAATCAAATACACACCACTTCCTGCCCTGGGGTGTTGTTCTTTCCCAGGAAAACCAGAAGAGGAGCAAAGAAACATTCCTTCCCAACCCACTGGATGTCATGATATTTTCCAGGACTTCATAATGATTGAAAGATACTATTTTATTGATTTTTAAAGTATGGTCTAGTTTTTTTTTTTTTTTTGAGGGAGGATATAGAGGAAAATAATCCATTATTCTTGAGGCTCTATGTTTAATGAGAAAATGGGTCAAACCTCATGTACAACAACCCCCAGAGCATTTAACTATTGTTTAAAAATATTTTGTGAAATTTGAAAAATAAAAGCATTTATTTTTCTAGAATTTAAGACACGCTAAACTTTTTCTTTGTTTATTTGCTTTCTTTTTTCTTCTTCTTCTTCAGGATTTGGAGGAACTAGAAAAGGGACTTCAGGTCAAACTGTCAAACACAGAAATGTCGGGGGCTGGTGACTCTTGAGTACATCACCCTGGCTGATGTGGAAAAGAAGGAGAGAGAATACTCTGAACAGCTAATCGATAATGTGCGTGCCAGACTTTCTTTCCTGTACACAAATTTTGGTTCCTAAAACAGTTAAATTGGCTACATTAGAGAGATGATAGTTAGAAGTGTGCCTAATACTTGAATTCCCCTATCGCATTCTGCCCTAGAGGCAGGATCCAGTTTCTGATGCTAAGTGATAGGGAAGAAGTAATTAAGCAGCAAAGATTCACAAAGGGAGGTTTATTTTTTATATCATGAATTATCCTCATTTAAATTTCAGATTGGTCTTTTTATCATTCAAAGCAAAGGTTGCTATAACCCTTGATGTCATCACTGCCCTTTGGAATAGAGTAGAAGAAAGCTGCTAGGCATCACTCGTGAAAGCAAGTTTTAAATTCCAGACAGAATGGCTTCTCTGAAACATCGTTTTTCTTTTCTTTTGGGTTCCACCACCCCCTGTTCATATATTATGTATTAAACAAACATGTCCTTGGCACTTGCTCTTCACCAGGGATTGTGCTGGGCACTGGGGACTCAAAAATCATTTAGACATGGCCCTGCCTGAGAGAGGCCAGGAGAGACAAACAGGTGAACAGATGAGGGCTTCACAGAGTGACACATCTTGTGATAGAAGGAAGCACAGGAGAAGGCCCGAGGCAGGCACAGTGGAGGGAAGAGTTCATTTTACCCCAGGCTTAGGAAAGCCTCCGTAGAAGAAGGGACCATGGAGAGGCTGGCCGGGAGAAGTGTGGGTGCTGGCCAGTGGTGGGGCAGAGATGGGAGCTAAAGAGGGCTGAGAGCAAGTCGAGGTAAGGTAAAGCCAGAGGGATCTGGCCAGAGGGCTTGTTTGTGTCTTAAGCCAGCGAGATGGGAGTGTCTATTGCCAGCGAGGTGGGAGTCACTGAAGCTTTGAAGCAGGGGGTGGCTGGCTTCAGCTTCTGCTTTAGAAGGGCTGCCCAGGCACTGAGTGGAGGGTGGTGAAGAGCTACTGGGCTAATCCAGCAGGAACTTTATTAAGGCAACTGCAGTAGGATGGAGAGGTGAGGAAACGTGTGAGAGAAGCTGTGGTGGTCTACCATGGGGCGGCAGGTGGGGAGGAGGAGGGGGTCCAGGGTCAGTGCTGCTGAAATAAGCGCCCCAGAGCAAGATGCTCATGGGAGGGAGGGAGCCAATGCTCCTGTCCTCTGAATAGGTCCAATATTGAGAGGAGAGGCTTGGAGATGGAGGGTCTCCATGAGAGCCCAGGTTAGAGGACTTTGAGGGCCAGAATGTTCTTAGAACTGTGGGCCAGGATGCTAAGGAAGAGGGCCAGCCTGGATTCCGGTGGTCCACAGAACCCCCAACGCTGTGTGCAGTATCTTGTCCATGTCTGCCTTTCTCAGGGACAGGGTTCAGAATTTTCATAAGATTCTCCAAAGTATTGGTGACCTCCAAAAATGGTGACCTCTGGCCTAGAAATGGTGTGTAAAATGGGAAGAGAAAAGAGCTTTGGTGCCAAATCCTGGATCCTGCCCATATTTAAGGAGGAGCGGATGAGAAGAATTGGGACAAGAAAGCAGAGGAGGAATTGGATGGGCTTTGCAGAAGCAGGAGAAAATCATGTCATGGACGCCAAGAGAATCAGGAGTTTGTAAGCAGAGCGGGCTGTGTAGAGTTGGCAGGTGACAGTCTGCAGTCACGTGGCAGGTGGAAGGCAGGTCATCTGATGGCTCCAAGGGGAAGAGCAGGGTGAGAGCCTGAGGGTGTCAGGCAGGTTTGAGGTCCCTCCTGGCAGGGATGAGAGGAGGAGCAGCATGTATGGGGTTTACTGGGAGGCAATGGGGCCCTGAGATGGGGAGCCGCATTGATGAGGGGTGTTCATCTGGGTGCAGGCTTCCTCCTGGCAGAGCCAGACCGACACCGCAGTTGAGGCTGACAGAGTTTCATGATCTTGAGTCACAGCAACAAAATCATGGGTTTCTGGTGACACTAACCCCTGCCCCCTCCCATGCCCAGTCCAGCCAGAAGTGTCCATTTCAG | pathogenic | 79,776 |
Regarding the variant at chromosome 4 and position 5745302, affecting gene EVC (EvC ciliary complex subunit 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome', 'Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly'] | AGATCCCATTTTGATCAGCAGGGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATTGTTGTGATAGTCTTCATCAGCACCACCATCATCACCATCTTCATCAGCACCACCATCACCACCTTTATCATCTTTCCTGCTACCTCTACCTTCACCTTCATTAGAGTCCTCATTGTCATCGTCATCGTCCTTGTTCCTACCACTGTGAGATCTGGGGGTTTGGGAAGGAATGTTTCTTCTTTACTCCACTGGATTCCATGAGGAAGGATGACTCACTGCATCCCAGGAAGGAGGAAGGACATCATCATCTTCACTGTCATCCTCAGTATCACCACCATGGTCATGGTCCTCAGGCAGTGCACGTCGTGCTTGACATACATTATTTCATTTAATAGTTATGACAGCCCTGTGAGTGGCCATTGTTATTTTTGTTTTACAGCTGAAGAAACTGAGACTCCATAAGTTCAAATGACTTTCCAATGGCAAAAATGATAATGATGATGATGACATTTATAATGGTATTAGTAATAATGAAACAATACTGTCTGTTATAATAGAAAGAATAAGAGCCTTGGAGTCTGCAGACCTCAGATCAAATTCCATCTCTACGAGTTAAACAAGGCTGTCTGAACTTAAGCAAGCATGTTAATTATAATAGTGGCTACTATTTGTTGAGATAGGCTAGCCAAGTGATTTAAATGCATAATTTCATTTAACACTTGGAATGACCTTAAAACTTTCAGAAGAGGACAAGGAGTGCCCAGAATTTGGAAGAGTAAGGACAAGCCTGGCACTGCCCCTTCCTGCCTGGGCATCTTTGGACAAACTATCTTACCTTCCATAAACCAGCTTTCTCACCTGGAAATGGGTCATAATTTCTCTTTCACAGAGATGCCGTGAGGATTAGAAATCACATATGGCCTCAGCTTGGGTCTTCAATAGTAGTTTATATCAATGTTATTTTTCCTAGTGAACCTTGACCCATGCCACACTGTTGGCTATGTGACAATGAATATAGAGAAAATAGAACTGCCTCCCACACACTATCTTGGGGTTTGTGAGTCTATACTTAGGACTCACCTTTTCCTTCCTGAGTTCAGAATCATTTGAGAGAGTCAGGAGGACAGATATAGAAATGTAGCTTTGTTACTGATTAGAGGCCAGCTTGGACGATGTGGCTTACATGCACAGCTATCATGGCTTCCTAATACTGAATCCCAGAATTCACTCAATTGCCTAGCTAGTCACGGGCAATGCTGGGCCACCTCAGGCTTCCCCACACAGAAACAGGGCCTTGGCTACCCAGCTCACTCTAGGCTGATATCACACCAGAGCAATGGCCTCCCCTGATTGGCCCATCACAAACAGGAAGAGGCTGGGCAAGTTTCTGGCCTTTAAACCAACCAATCAAATACACACCACTTCCTGCCCTGGGGTGTTGTTCTTTCCCAGGAAAACCAGAAGAGGAGCAAAGAAACATTCCTTCCCAACCCACTGGATGTCATGATATTTTCCAGGACTTCATAATGATTGAAAGATACTATTTTATTGATTTTTAAAGTATGGTCTAGTTTTTTTTTTTTTTTTGAGGGAGGATATAGAGGAAAATAATCCATTATTCTTGAGGCTCTATGTTTAATGAGAAAATGGGTCAAACCTCATGTACAACAACCCCCAGAGCATTTAACTATTGTTTAAAAATATTTTGTGAAATTTGAAAAATAAAAGCATTTATTTTTCTAGAATTTAAGACACGCTAAACTTTTTCTTTGTTTATTTGCTTTCTTTTTTCTTCTTCTTCTTCAGGATTTGGAGGAACTAGAAAAGGGACTTCAGGTCAAACTGTCAAACACAGAAATGTCGGGGGCTGGTGACTCTGAGTACATCACCCTGGCTGATGTGGAAAAGAAGGAGAGAGAATACTCTGAACAGCTAATCGATAATGTGCGTGCCAGACTTTCTTTCCTGTACACAAATTTTGGTTCCTAAAACAGTTAAATTGGCTACATTAGAGAGATGATAGTTAGAAGTGTGCCTAATACTTGAATTCCCCTATCGCATTCTGCCCTAGAGGCAGGATCCAGTTTCTGATGCTAAGTGATAGGGAAGAAGTAATTAAGCAGCAAAGATTCACAAAGGGAGGTTTATTTTTTATATCATGAATTATCCTCATTTAAATTTCAGATTGGTCTTTTTATCATTCAAAGCAAAGGTTGCTATAACCCTTGATGTCATCACTGCCCTTTGGAATAGAGTAGAAGAAAGCTGCTAGGCATCACTCGTGAAAGCAAGTTTTAAATTCCAGACAGAATGGCTTCTCTGAAACATCGTTTTTCTTTTCTTTTGGGTTCCACCACCCCCTGTTCATATATTATGTATTAAACAAACATGTCCTTGGCACTTGCTCTTCACCAGGGATTGTGCTGGGCACTGGGGACTCAAAAATCATTTAGACATGGCCCTGCCTGAGAGAGGCCAGGAGAGACAAACAGGTGAACAGATGAGGGCTTCACAGAGTGACACATCTTGTGATAGAAGGAAGCACAGGAGAAGGCCCGAGGCAGGCACAGTGGAGGGAAGAGTTCATTTTACCCCAGGCTTAGGAAAGCCTCCGTAGAAGAAGGGACCATGGAGAGGCTGGCCGGGAGAAGTGTGGGTGCTGGCCAGTGGTGGGGCAGAGATGGGAGCTAAAGAGGGCTGAGAGCAAGTCGAGGTAAGGTAAAGCCAGAGGGATCTGGCCAGAGGGCTTGTTTGTGTCTTAAGCCAGCGAGATGGGAGTGTCTATTGCCAGCGAGGTGGGAGTCACTGAAGCTTTGAAGCAGGGGGTGGCTGGCTTCAGCTTCTGCTTTAGAAGGGCTGCCCAGGCACTGAGTGGAGGGTGGTGAAGAGCTACTGGGCTAATCCAGCAGGAACTTTATTAAGGCAACTGCAGTAGGATGGAGAGGTGAGGAAACGTGTGAGAGAAGCTGTGGTGGTCTACCATGGGGCGGCAGGTGGGGAGGAGGAGGGGGTCCAGGGTCAGTGCTGCTGAAATAAGCGCCCCAGAGCAAGATGCTCATGGGAGGGAGGGAGCCAATGCTCCTGTCCTCTGAATAGGTCCAATATTGAGAGGAGAGGCTTGGAGATGGAGGGTCTCCATGAGAGCCCAGGTTAGAGGACTTTGAGGGCCAGAATGTTCTTAGAACTGTGGGCCAGGATGCTAAGGAAGAGGGCCAGCCTGGATTCCGGTGGTCCACAGAACCCCCAACGCTGTGTGCAGTATCTTGTCCATGTCTGCCTTTCTCAGGGACAGGGTTCAGAATTTTCATAAGATTCTCCAAAGTATTGGTGACCTCCAAAAATGGTGACCTCTGGCCTAGAAATGGTGTGTAAAATGGGAAGAGAAAAGAGCTTTGGTGCCAAATCCTGGATCCTGCCCATATTTAAGGAGGAGCGGATGAGAAGAATTGGGACAAGAAAGCAGAGGAGGAATTGGATGGGCTTTGCAGAAGCAGGAGAAAATCATGTCATGGACGCCAAGAGAATCAGGAGTTTGTAAGCAGAGCGGGCTGTGTAGAGTTGGCAGGTGACAGTCTGCAGTCACGTGGCAGGTGGAAGGCAGGTCATCTGATGGCTCCAAGGGGAAGAGCAGGGTGAGAGCCTGAGGGTGTCAGGCAGGTTTGAGGTCCCTCCTGGCAGGGATGAGAGGAGGAGCAGCATGTATGGGGTTTACTGGGAGGCAATGGGGCCCTGAGATGGGGAGCCGCATTGATGAGGGGTGTTCATCTGGGTGCAGGCTTCCTCCTGGCAGAGCCAGACCGACACCGCAGTTGAGGCTGACAGAGTTTCATGATCTTGAGTCACAGCAACAAAATCATGGGTTTCTGGTGACACTAACCCCTGCCCCCTCCCATGCCCAGTCCAGCCAGAAGTGTCCATTTCAGCCTCTCAGAGGCTGAGCCAAGATGGAGGC | AGATCCCATTTTGATCAGCAGGGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATTGTTGTGATAGTCTTCATCAGCACCACCATCATCACCATCTTCATCAGCACCACCATCACCACCTTTATCATCTTTCCTGCTACCTCTACCTTCACCTTCATTAGAGTCCTCATTGTCATCGTCATCGTCCTTGTTCCTACCACTGTGAGATCTGGGGGTTTGGGAAGGAATGTTTCTTCTTTACTCCACTGGATTCCATGAGGAAGGATGACTCACTGCATCCCAGGAAGGAGGAAGGACATCATCATCTTCACTGTCATCCTCAGTATCACCACCATGGTCATGGTCCTCAGGCAGTGCACGTCGTGCTTGACATACATTATTTCATTTAATAGTTATGACAGCCCTGTGAGTGGCCATTGTTATTTTTGTTTTACAGCTGAAGAAACTGAGACTCCATAAGTTCAAATGACTTTCCAATGGCAAAAATGATAATGATGATGATGACATTTATAATGGTATTAGTAATAATGAAACAATACTGTCTGTTATAATAGAAAGAATAAGAGCCTTGGAGTCTGCAGACCTCAGATCAAATTCCATCTCTACGAGTTAAACAAGGCTGTCTGAACTTAAGCAAGCATGTTAATTATAATAGTGGCTACTATTTGTTGAGATAGGCTAGCCAAGTGATTTAAATGCATAATTTCATTTAACACTTGGAATGACCTTAAAACTTTCAGAAGAGGACAAGGAGTGCCCAGAATTTGGAAGAGTAAGGACAAGCCTGGCACTGCCCCTTCCTGCCTGGGCATCTTTGGACAAACTATCTTACCTTCCATAAACCAGCTTTCTCACCTGGAAATGGGTCATAATTTCTCTTTCACAGAGATGCCGTGAGGATTAGAAATCACATATGGCCTCAGCTTGGGTCTTCAATAGTAGTTTATATCAATGTTATTTTTCCTAGTGAACCTTGACCCATGCCACACTGTTGGCTATGTGACAATGAATATAGAGAAAATAGAACTGCCTCCCACACACTATCTTGGGGTTTGTGAGTCTATACTTAGGACTCACCTTTTCCTTCCTGAGTTCAGAATCATTTGAGAGAGTCAGGAGGACAGATATAGAAATGTAGCTTTGTTACTGATTAGAGGCCAGCTTGGACGATGTGGCTTACATGCACAGCTATCATGGCTTCCTAATACTGAATCCCAGAATTCACTCAATTGCCTAGCTAGTCACGGGCAATGCTGGGCCACCTCAGGCTTCCCCACACAGAAACAGGGCCTTGGCTACCCAGCTCACTCTAGGCTGATATCACACCAGAGCAATGGCCTCCCCTGATTGGCCCATCACAAACAGGAAGAGGCTGGGCAAGTTTCTGGCCTTTAAACCAACCAATCAAATACACACCACTTCCTGCCCTGGGGTGTTGTTCTTTCCCAGGAAAACCAGAAGAGGAGCAAAGAAACATTCCTTCCCAACCCACTGGATGTCATGATATTTTCCAGGACTTCATAATGATTGAAAGATACTATTTTATTGATTTTTAAAGTATGGTCTAGTTTTTTTTTTTTTTTTGAGGGAGGATATAGAGGAAAATAATCCATTATTCTTGAGGCTCTATGTTTAATGAGAAAATGGGTCAAACCTCATGTACAACAACCCCCAGAGCATTTAACTATTGTTTAAAAATATTTTGTGAAATTTGAAAAATAAAAGCATTTATTTTTCTAGAATTTAAGACACGCTAAACTTTTTCTTTGTTTATTTGCTTTCTTTTTTCTTCTTCTTCTTCAGGATTTGGAGGAACTAGAAAAGGGACTTCAGGTCAAACTGTCAAACACAGAAATGTCGGGGGCTGGTGACTCTGAGTACATCACCCTGGCTGATGTGGAAAAGGAGAGAGAATACTCTGAACAGCTAATCGATAATGTGCGTGCCAGACTTTCTTTCCTGTACACAAATTTTGGTTCCTAAAACAGTTAAATTGGCTACATTAGAGAGATGATAGTTAGAAGTGTGCCTAATACTTGAATTCCCCTATCGCATTCTGCCCTAGAGGCAGGATCCAGTTTCTGATGCTAAGTGATAGGGAAGAAGTAATTAAGCAGCAAAGATTCACAAAGGGAGGTTTATTTTTTATATCATGAATTATCCTCATTTAAATTTCAGATTGGTCTTTTTATCATTCAAAGCAAAGGTTGCTATAACCCTTGATGTCATCACTGCCCTTTGGAATAGAGTAGAAGAAAGCTGCTAGGCATCACTCGTGAAAGCAAGTTTTAAATTCCAGACAGAATGGCTTCTCTGAAACATCGTTTTTCTTTTCTTTTGGGTTCCACCACCCCCTGTTCATATATTATGTATTAAACAAACATGTCCTTGGCACTTGCTCTTCACCAGGGATTGTGCTGGGCACTGGGGACTCAAAAATCATTTAGACATGGCCCTGCCTGAGAGAGGCCAGGAGAGACAAACAGGTGAACAGATGAGGGCTTCACAGAGTGACACATCTTGTGATAGAAGGAAGCACAGGAGAAGGCCCGAGGCAGGCACAGTGGAGGGAAGAGTTCATTTTACCCCAGGCTTAGGAAAGCCTCCGTAGAAGAAGGGACCATGGAGAGGCTGGCCGGGAGAAGTGTGGGTGCTGGCCAGTGGTGGGGCAGAGATGGGAGCTAAAGAGGGCTGAGAGCAAGTCGAGGTAAGGTAAAGCCAGAGGGATCTGGCCAGAGGGCTTGTTTGTGTCTTAAGCCAGCGAGATGGGAGTGTCTATTGCCAGCGAGGTGGGAGTCACTGAAGCTTTGAAGCAGGGGGTGGCTGGCTTCAGCTTCTGCTTTAGAAGGGCTGCCCAGGCACTGAGTGGAGGGTGGTGAAGAGCTACTGGGCTAATCCAGCAGGAACTTTATTAAGGCAACTGCAGTAGGATGGAGAGGTGAGGAAACGTGTGAGAGAAGCTGTGGTGGTCTACCATGGGGCGGCAGGTGGGGAGGAGGAGGGGGTCCAGGGTCAGTGCTGCTGAAATAAGCGCCCCAGAGCAAGATGCTCATGGGAGGGAGGGAGCCAATGCTCCTGTCCTCTGAATAGGTCCAATATTGAGAGGAGAGGCTTGGAGATGGAGGGTCTCCATGAGAGCCCAGGTTAGAGGACTTTGAGGGCCAGAATGTTCTTAGAACTGTGGGCCAGGATGCTAAGGAAGAGGGCCAGCCTGGATTCCGGTGGTCCACAGAACCCCCAACGCTGTGTGCAGTATCTTGTCCATGTCTGCCTTTCTCAGGGACAGGGTTCAGAATTTTCATAAGATTCTCCAAAGTATTGGTGACCTCCAAAAATGGTGACCTCTGGCCTAGAAATGGTGTGTAAAATGGGAAGAGAAAAGAGCTTTGGTGCCAAATCCTGGATCCTGCCCATATTTAAGGAGGAGCGGATGAGAAGAATTGGGACAAGAAAGCAGAGGAGGAATTGGATGGGCTTTGCAGAAGCAGGAGAAAATCATGTCATGGACGCCAAGAGAATCAGGAGTTTGTAAGCAGAGCGGGCTGTGTAGAGTTGGCAGGTGACAGTCTGCAGTCACGTGGCAGGTGGAAGGCAGGTCATCTGATGGCTCCAAGGGGAAGAGCAGGGTGAGAGCCTGAGGGTGTCAGGCAGGTTTGAGGTCCCTCCTGGCAGGGATGAGAGGAGGAGCAGCATGTATGGGGTTTACTGGGAGGCAATGGGGCCCTGAGATGGGGAGCCGCATTGATGAGGGGTGTTCATCTGGGTGCAGGCTTCCTCCTGGCAGAGCCAGACCGACACCGCAGTTGAGGCTGACAGAGTTTCATGATCTTGAGTCACAGCAACAAAATCATGGGTTTCTGGTGACACTAACCCCTGCCCCCTCCCATGCCCAGTCCAGCCAGAAGTGTCCATTTCAGCCTCTCAGAGGCTGAGCCAAGATGGAGGCNNN | pathogenic | 79,777 |
Variant in gene EVC (EvC ciliary complex subunit 1), located at chromosome 4 position 5745311: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | TTTGATCAGCAGGGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATTGTTGTGATAGTCTTCATCAGCACCACCATCATCACCATCTTCATCAGCACCACCATCACCACCTTTATCATCTTTCCTGCTACCTCTACCTTCACCTTCATTAGAGTCCTCATTGTCATCGTCATCGTCCTTGTTCCTACCACTGTGAGATCTGGGGGTTTGGGAAGGAATGTTTCTTCTTTACTCCACTGGATTCCATGAGGAAGGATGACTCACTGCATCCCAGGAAGGAGGAAGGACATCATCATCTTCACTGTCATCCTCAGTATCACCACCATGGTCATGGTCCTCAGGCAGTGCACGTCGTGCTTGACATACATTATTTCATTTAATAGTTATGACAGCCCTGTGAGTGGCCATTGTTATTTTTGTTTTACAGCTGAAGAAACTGAGACTCCATAAGTTCAAATGACTTTCCAATGGCAAAAATGATAATGATGATGATGACATTTATAATGGTATTAGTAATAATGAAACAATACTGTCTGTTATAATAGAAAGAATAAGAGCCTTGGAGTCTGCAGACCTCAGATCAAATTCCATCTCTACGAGTTAAACAAGGCTGTCTGAACTTAAGCAAGCATGTTAATTATAATAGTGGCTACTATTTGTTGAGATAGGCTAGCCAAGTGATTTAAATGCATAATTTCATTTAACACTTGGAATGACCTTAAAACTTTCAGAAGAGGACAAGGAGTGCCCAGAATTTGGAAGAGTAAGGACAAGCCTGGCACTGCCCCTTCCTGCCTGGGCATCTTTGGACAAACTATCTTACCTTCCATAAACCAGCTTTCTCACCTGGAAATGGGTCATAATTTCTCTTTCACAGAGATGCCGTGAGGATTAGAAATCACATATGGCCTCAGCTTGGGTCTTCAATAGTAGTTTATATCAATGTTATTTTTCCTAGTGAACCTTGACCCATGCCACACTGTTGGCTATGTGACAATGAATATAGAGAAAATAGAACTGCCTCCCACACACTATCTTGGGGTTTGTGAGTCTATACTTAGGACTCACCTTTTCCTTCCTGAGTTCAGAATCATTTGAGAGAGTCAGGAGGACAGATATAGAAATGTAGCTTTGTTACTGATTAGAGGCCAGCTTGGACGATGTGGCTTACATGCACAGCTATCATGGCTTCCTAATACTGAATCCCAGAATTCACTCAATTGCCTAGCTAGTCACGGGCAATGCTGGGCCACCTCAGGCTTCCCCACACAGAAACAGGGCCTTGGCTACCCAGCTCACTCTAGGCTGATATCACACCAGAGCAATGGCCTCCCCTGATTGGCCCATCACAAACAGGAAGAGGCTGGGCAAGTTTCTGGCCTTTAAACCAACCAATCAAATACACACCACTTCCTGCCCTGGGGTGTTGTTCTTTCCCAGGAAAACCAGAAGAGGAGCAAAGAAACATTCCTTCCCAACCCACTGGATGTCATGATATTTTCCAGGACTTCATAATGATTGAAAGATACTATTTTATTGATTTTTAAAGTATGGTCTAGTTTTTTTTTTTTTTTTGAGGGAGGATATAGAGGAAAATAATCCATTATTCTTGAGGCTCTATGTTTAATGAGAAAATGGGTCAAACCTCATGTACAACAACCCCCAGAGCATTTAACTATTGTTTAAAAATATTTTGTGAAATTTGAAAAATAAAAGCATTTATTTTTCTAGAATTTAAGACACGCTAAACTTTTTCTTTGTTTATTTGCTTTCTTTTTTCTTCTTCTTCTTCAGGATTTGGAGGAACTAGAAAAGGGACTTCAGGTCAAACTGTCAAACACAGAAATGTCGGGGGCTGGTGACTCTGAGTACATCACCCTGGCTGATGTGGAAAAGAAGGAGAGAGAATACTCTGAACAGCTAATCGATAATGTGCGTGCCAGACTTTCTTTCCTGTACACAAATTTTGGTTCCTAAAACAGTTAAATTGGCTACATTAGAGAGATGATAGTTAGAAGTGTGCCTAATACTTGAATTCCCCTATCGCATTCTGCCCTAGAGGCAGGATCCAGTTTCTGATGCTAAGTGATAGGGAAGAAGTAATTAAGCAGCAAAGATTCACAAAGGGAGGTTTATTTTTTATATCATGAATTATCCTCATTTAAATTTCAGATTGGTCTTTTTATCATTCAAAGCAAAGGTTGCTATAACCCTTGATGTCATCACTGCCCTTTGGAATAGAGTAGAAGAAAGCTGCTAGGCATCACTCGTGAAAGCAAGTTTTAAATTCCAGACAGAATGGCTTCTCTGAAACATCGTTTTTCTTTTCTTTTGGGTTCCACCACCCCCTGTTCATATATTATGTATTAAACAAACATGTCCTTGGCACTTGCTCTTCACCAGGGATTGTGCTGGGCACTGGGGACTCAAAAATCATTTAGACATGGCCCTGCCTGAGAGAGGCCAGGAGAGACAAACAGGTGAACAGATGAGGGCTTCACAGAGTGACACATCTTGTGATAGAAGGAAGCACAGGAGAAGGCCCGAGGCAGGCACAGTGGAGGGAAGAGTTCATTTTACCCCAGGCTTAGGAAAGCCTCCGTAGAAGAAGGGACCATGGAGAGGCTGGCCGGGAGAAGTGTGGGTGCTGGCCAGTGGTGGGGCAGAGATGGGAGCTAAAGAGGGCTGAGAGCAAGTCGAGGTAAGGTAAAGCCAGAGGGATCTGGCCAGAGGGCTTGTTTGTGTCTTAAGCCAGCGAGATGGGAGTGTCTATTGCCAGCGAGGTGGGAGTCACTGAAGCTTTGAAGCAGGGGGTGGCTGGCTTCAGCTTCTGCTTTAGAAGGGCTGCCCAGGCACTGAGTGGAGGGTGGTGAAGAGCTACTGGGCTAATCCAGCAGGAACTTTATTAAGGCAACTGCAGTAGGATGGAGAGGTGAGGAAACGTGTGAGAGAAGCTGTGGTGGTCTACCATGGGGCGGCAGGTGGGGAGGAGGAGGGGGTCCAGGGTCAGTGCTGCTGAAATAAGCGCCCCAGAGCAAGATGCTCATGGGAGGGAGGGAGCCAATGCTCCTGTCCTCTGAATAGGTCCAATATTGAGAGGAGAGGCTTGGAGATGGAGGGTCTCCATGAGAGCCCAGGTTAGAGGACTTTGAGGGCCAGAATGTTCTTAGAACTGTGGGCCAGGATGCTAAGGAAGAGGGCCAGCCTGGATTCCGGTGGTCCACAGAACCCCCAACGCTGTGTGCAGTATCTTGTCCATGTCTGCCTTTCTCAGGGACAGGGTTCAGAATTTTCATAAGATTCTCCAAAGTATTGGTGACCTCCAAAAATGGTGACCTCTGGCCTAGAAATGGTGTGTAAAATGGGAAGAGAAAAGAGCTTTGGTGCCAAATCCTGGATCCTGCCCATATTTAAGGAGGAGCGGATGAGAAGAATTGGGACAAGAAAGCAGAGGAGGAATTGGATGGGCTTTGCAGAAGCAGGAGAAAATCATGTCATGGACGCCAAGAGAATCAGGAGTTTGTAAGCAGAGCGGGCTGTGTAGAGTTGGCAGGTGACAGTCTGCAGTCACGTGGCAGGTGGAAGGCAGGTCATCTGATGGCTCCAAGGGGAAGAGCAGGGTGAGAGCCTGAGGGTGTCAGGCAGGTTTGAGGTCCCTCCTGGCAGGGATGAGAGGAGGAGCAGCATGTATGGGGTTTACTGGGAGGCAATGGGGCCCTGAGATGGGGAGCCGCATTGATGAGGGGTGTTCATCTGGGTGCAGGCTTCCTCCTGGCAGAGCCAGACCGACACCGCAGTTGAGGCTGACAGAGTTTCATGATCTTGAGTCACAGCAACAAAATCATGGGTTTCTGGTGACACTAACCCCTGCCCCCTCCCATGCCCAGTCCAGCCAGAAGTGTCCATTTCAGCCTCTCAGAGGCTGAGCCAAGATGGAGGCAACCTCAGC | TTTGATCAGCAGGGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATTGTTGTGATAGTCTTCATCAGCACCACCATCATCACCATCTTCATCAGCACCACCATCACCACCTTTATCATCTTTCCTGCTACCTCTACCTTCACCTTCATTAGAGTCCTCATTGTCATCGTCATCGTCCTTGTTCCTACCACTGTGAGATCTGGGGGTTTGGGAAGGAATGTTTCTTCTTTACTCCACTGGATTCCATGAGGAAGGATGACTCACTGCATCCCAGGAAGGAGGAAGGACATCATCATCTTCACTGTCATCCTCAGTATCACCACCATGGTCATGGTCCTCAGGCAGTGCACGTCGTGCTTGACATACATTATTTCATTTAATAGTTATGACAGCCCTGTGAGTGGCCATTGTTATTTTTGTTTTACAGCTGAAGAAACTGAGACTCCATAAGTTCAAATGACTTTCCAATGGCAAAAATGATAATGATGATGATGACATTTATAATGGTATTAGTAATAATGAAACAATACTGTCTGTTATAATAGAAAGAATAAGAGCCTTGGAGTCTGCAGACCTCAGATCAAATTCCATCTCTACGAGTTAAACAAGGCTGTCTGAACTTAAGCAAGCATGTTAATTATAATAGTGGCTACTATTTGTTGAGATAGGCTAGCCAAGTGATTTAAATGCATAATTTCATTTAACACTTGGAATGACCTTAAAACTTTCAGAAGAGGACAAGGAGTGCCCAGAATTTGGAAGAGTAAGGACAAGCCTGGCACTGCCCCTTCCTGCCTGGGCATCTTTGGACAAACTATCTTACCTTCCATAAACCAGCTTTCTCACCTGGAAATGGGTCATAATTTCTCTTTCACAGAGATGCCGTGAGGATTAGAAATCACATATGGCCTCAGCTTGGGTCTTCAATAGTAGTTTATATCAATGTTATTTTTCCTAGTGAACCTTGACCCATGCCACACTGTTGGCTATGTGACAATGAATATAGAGAAAATAGAACTGCCTCCCACACACTATCTTGGGGTTTGTGAGTCTATACTTAGGACTCACCTTTTCCTTCCTGAGTTCAGAATCATTTGAGAGAGTCAGGAGGACAGATATAGAAATGTAGCTTTGTTACTGATTAGAGGCCAGCTTGGACGATGTGGCTTACATGCACAGCTATCATGGCTTCCTAATACTGAATCCCAGAATTCACTCAATTGCCTAGCTAGTCACGGGCAATGCTGGGCCACCTCAGGCTTCCCCACACAGAAACAGGGCCTTGGCTACCCAGCTCACTCTAGGCTGATATCACACCAGAGCAATGGCCTCCCCTGATTGGCCCATCACAAACAGGAAGAGGCTGGGCAAGTTTCTGGCCTTTAAACCAACCAATCAAATACACACCACTTCCTGCCCTGGGGTGTTGTTCTTTCCCAGGAAAACCAGAAGAGGAGCAAAGAAACATTCCTTCCCAACCCACTGGATGTCATGATATTTTCCAGGACTTCATAATGATTGAAAGATACTATTTTATTGATTTTTAAAGTATGGTCTAGTTTTTTTTTTTTTTTTGAGGGAGGATATAGAGGAAAATAATCCATTATTCTTGAGGCTCTATGTTTAATGAGAAAATGGGTCAAACCTCATGTACAACAACCCCCAGAGCATTTAACTATTGTTTAAAAATATTTTGTGAAATTTGAAAAATAAAAGCATTTATTTTTCTAGAATTTAAGACACGCTAAACTTTTTCTTTGTTTATTTGCTTTCTTTTTTCTTCTTCTTCTTCAGGATTTGGAGGAACTAGAAAAGGGACTTCAGGTCAAACTGTCAAACACAGAAATGTCGGGGGCTGGTGACTCTGAGTACATCACCCTGGCTGATGTGGAAAAGAAGGAGAAGAGAATACTCTGAACAGCTAATCGATAATGTGCGTGCCAGACTTTCTTTCCTGTACACAAATTTTGGTTCCTAAAACAGTTAAATTGGCTACATTAGAGAGATGATAGTTAGAAGTGTGCCTAATACTTGAATTCCCCTATCGCATTCTGCCCTAGAGGCAGGATCCAGTTTCTGATGCTAAGTGATAGGGAAGAAGTAATTAAGCAGCAAAGATTCACAAAGGGAGGTTTATTTTTTATATCATGAATTATCCTCATTTAAATTTCAGATTGGTCTTTTTATCATTCAAAGCAAAGGTTGCTATAACCCTTGATGTCATCACTGCCCTTTGGAATAGAGTAGAAGAAAGCTGCTAGGCATCACTCGTGAAAGCAAGTTTTAAATTCCAGACAGAATGGCTTCTCTGAAACATCGTTTTTCTTTTCTTTTGGGTTCCACCACCCCCTGTTCATATATTATGTATTAAACAAACATGTCCTTGGCACTTGCTCTTCACCAGGGATTGTGCTGGGCACTGGGGACTCAAAAATCATTTAGACATGGCCCTGCCTGAGAGAGGCCAGGAGAGACAAACAGGTGAACAGATGAGGGCTTCACAGAGTGACACATCTTGTGATAGAAGGAAGCACAGGAGAAGGCCCGAGGCAGGCACAGTGGAGGGAAGAGTTCATTTTACCCCAGGCTTAGGAAAGCCTCCGTAGAAGAAGGGACCATGGAGAGGCTGGCCGGGAGAAGTGTGGGTGCTGGCCAGTGGTGGGGCAGAGATGGGAGCTAAAGAGGGCTGAGAGCAAGTCGAGGTAAGGTAAAGCCAGAGGGATCTGGCCAGAGGGCTTGTTTGTGTCTTAAGCCAGCGAGATGGGAGTGTCTATTGCCAGCGAGGTGGGAGTCACTGAAGCTTTGAAGCAGGGGGTGGCTGGCTTCAGCTTCTGCTTTAGAAGGGCTGCCCAGGCACTGAGTGGAGGGTGGTGAAGAGCTACTGGGCTAATCCAGCAGGAACTTTATTAAGGCAACTGCAGTAGGATGGAGAGGTGAGGAAACGTGTGAGAGAAGCTGTGGTGGTCTACCATGGGGCGGCAGGTGGGGAGGAGGAGGGGGTCCAGGGTCAGTGCTGCTGAAATAAGCGCCCCAGAGCAAGATGCTCATGGGAGGGAGGGAGCCAATGCTCCTGTCCTCTGAATAGGTCCAATATTGAGAGGAGAGGCTTGGAGATGGAGGGTCTCCATGAGAGCCCAGGTTAGAGGACTTTGAGGGCCAGAATGTTCTTAGAACTGTGGGCCAGGATGCTAAGGAAGAGGGCCAGCCTGGATTCCGGTGGTCCACAGAACCCCCAACGCTGTGTGCAGTATCTTGTCCATGTCTGCCTTTCTCAGGGACAGGGTTCAGAATTTTCATAAGATTCTCCAAAGTATTGGTGACCTCCAAAAATGGTGACCTCTGGCCTAGAAATGGTGTGTAAAATGGGAAGAGAAAAGAGCTTTGGTGCCAAATCCTGGATCCTGCCCATATTTAAGGAGGAGCGGATGAGAAGAATTGGGACAAGAAAGCAGAGGAGGAATTGGATGGGCTTTGCAGAAGCAGGAGAAAATCATGTCATGGACGCCAAGAGAATCAGGAGTTTGTAAGCAGAGCGGGCTGTGTAGAGTTGGCAGGTGACAGTCTGCAGTCACGTGGCAGGTGGAAGGCAGGTCATCTGATGGCTCCAAGGGGAAGAGCAGGGTGAGAGCCTGAGGGTGTCAGGCAGGTTTGAGGTCCCTCCTGGCAGGGATGAGAGGAGGAGCAGCATGTATGGGGTTTACTGGGAGGCAATGGGGCCCTGAGATGGGGAGCCGCATTGATGAGGGGTGTTCATCTGGGTGCAGGCTTCCTCCTGGCAGAGCCAGACCGACACCGCAGTTGAGGCTGACAGAGTTTCATGATCTTGAGTCACAGCAACAAAATCATGGGTTTCTGGTGACACTAACCCCTGCCCCCTCCCATGCCCAGTCCAGCCAGAAGTGTCCATTTCAGCCTCTCAGAGGCTGAGCCAAGATGGAGGCAACCTCAG | pathogenic | 79,778 |
Determine if the mutation at chromosome 4, position 5745323 in gene EVC (EvC ciliary complex subunit 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | GGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATTGTTGTGATAGTCTTCATCAGCACCACCATCATCACCATCTTCATCAGCACCACCATCACCACCTTTATCATCTTTCCTGCTACCTCTACCTTCACCTTCATTAGAGTCCTCATTGTCATCGTCATCGTCCTTGTTCCTACCACTGTGAGATCTGGGGGTTTGGGAAGGAATGTTTCTTCTTTACTCCACTGGATTCCATGAGGAAGGATGACTCACTGCATCCCAGGAAGGAGGAAGGACATCATCATCTTCACTGTCATCCTCAGTATCACCACCATGGTCATGGTCCTCAGGCAGTGCACGTCGTGCTTGACATACATTATTTCATTTAATAGTTATGACAGCCCTGTGAGTGGCCATTGTTATTTTTGTTTTACAGCTGAAGAAACTGAGACTCCATAAGTTCAAATGACTTTCCAATGGCAAAAATGATAATGATGATGATGACATTTATAATGGTATTAGTAATAATGAAACAATACTGTCTGTTATAATAGAAAGAATAAGAGCCTTGGAGTCTGCAGACCTCAGATCAAATTCCATCTCTACGAGTTAAACAAGGCTGTCTGAACTTAAGCAAGCATGTTAATTATAATAGTGGCTACTATTTGTTGAGATAGGCTAGCCAAGTGATTTAAATGCATAATTTCATTTAACACTTGGAATGACCTTAAAACTTTCAGAAGAGGACAAGGAGTGCCCAGAATTTGGAAGAGTAAGGACAAGCCTGGCACTGCCCCTTCCTGCCTGGGCATCTTTGGACAAACTATCTTACCTTCCATAAACCAGCTTTCTCACCTGGAAATGGGTCATAATTTCTCTTTCACAGAGATGCCGTGAGGATTAGAAATCACATATGGCCTCAGCTTGGGTCTTCAATAGTAGTTTATATCAATGTTATTTTTCCTAGTGAACCTTGACCCATGCCACACTGTTGGCTATGTGACAATGAATATAGAGAAAATAGAACTGCCTCCCACACACTATCTTGGGGTTTGTGAGTCTATACTTAGGACTCACCTTTTCCTTCCTGAGTTCAGAATCATTTGAGAGAGTCAGGAGGACAGATATAGAAATGTAGCTTTGTTACTGATTAGAGGCCAGCTTGGACGATGTGGCTTACATGCACAGCTATCATGGCTTCCTAATACTGAATCCCAGAATTCACTCAATTGCCTAGCTAGTCACGGGCAATGCTGGGCCACCTCAGGCTTCCCCACACAGAAACAGGGCCTTGGCTACCCAGCTCACTCTAGGCTGATATCACACCAGAGCAATGGCCTCCCCTGATTGGCCCATCACAAACAGGAAGAGGCTGGGCAAGTTTCTGGCCTTTAAACCAACCAATCAAATACACACCACTTCCTGCCCTGGGGTGTTGTTCTTTCCCAGGAAAACCAGAAGAGGAGCAAAGAAACATTCCTTCCCAACCCACTGGATGTCATGATATTTTCCAGGACTTCATAATGATTGAAAGATACTATTTTATTGATTTTTAAAGTATGGTCTAGTTTTTTTTTTTTTTTTGAGGGAGGATATAGAGGAAAATAATCCATTATTCTTGAGGCTCTATGTTTAATGAGAAAATGGGTCAAACCTCATGTACAACAACCCCCAGAGCATTTAACTATTGTTTAAAAATATTTTGTGAAATTTGAAAAATAAAAGCATTTATTTTTCTAGAATTTAAGACACGCTAAACTTTTTCTTTGTTTATTTGCTTTCTTTTTTCTTCTTCTTCTTCAGGATTTGGAGGAACTAGAAAAGGGACTTCAGGTCAAACTGTCAAACACAGAAATGTCGGGGGCTGGTGACTCTGAGTACATCACCCTGGCTGATGTGGAAAAGAAGGAGAGAGAATACTCTGAACAGCTAATCGATAATGTGCGTGCCAGACTTTCTTTCCTGTACACAAATTTTGGTTCCTAAAACAGTTAAATTGGCTACATTAGAGAGATGATAGTTAGAAGTGTGCCTAATACTTGAATTCCCCTATCGCATTCTGCCCTAGAGGCAGGATCCAGTTTCTGATGCTAAGTGATAGGGAAGAAGTAATTAAGCAGCAAAGATTCACAAAGGGAGGTTTATTTTTTATATCATGAATTATCCTCATTTAAATTTCAGATTGGTCTTTTTATCATTCAAAGCAAAGGTTGCTATAACCCTTGATGTCATCACTGCCCTTTGGAATAGAGTAGAAGAAAGCTGCTAGGCATCACTCGTGAAAGCAAGTTTTAAATTCCAGACAGAATGGCTTCTCTGAAACATCGTTTTTCTTTTCTTTTGGGTTCCACCACCCCCTGTTCATATATTATGTATTAAACAAACATGTCCTTGGCACTTGCTCTTCACCAGGGATTGTGCTGGGCACTGGGGACTCAAAAATCATTTAGACATGGCCCTGCCTGAGAGAGGCCAGGAGAGACAAACAGGTGAACAGATGAGGGCTTCACAGAGTGACACATCTTGTGATAGAAGGAAGCACAGGAGAAGGCCCGAGGCAGGCACAGTGGAGGGAAGAGTTCATTTTACCCCAGGCTTAGGAAAGCCTCCGTAGAAGAAGGGACCATGGAGAGGCTGGCCGGGAGAAGTGTGGGTGCTGGCCAGTGGTGGGGCAGAGATGGGAGCTAAAGAGGGCTGAGAGCAAGTCGAGGTAAGGTAAAGCCAGAGGGATCTGGCCAGAGGGCTTGTTTGTGTCTTAAGCCAGCGAGATGGGAGTGTCTATTGCCAGCGAGGTGGGAGTCACTGAAGCTTTGAAGCAGGGGGTGGCTGGCTTCAGCTTCTGCTTTAGAAGGGCTGCCCAGGCACTGAGTGGAGGGTGGTGAAGAGCTACTGGGCTAATCCAGCAGGAACTTTATTAAGGCAACTGCAGTAGGATGGAGAGGTGAGGAAACGTGTGAGAGAAGCTGTGGTGGTCTACCATGGGGCGGCAGGTGGGGAGGAGGAGGGGGTCCAGGGTCAGTGCTGCTGAAATAAGCGCCCCAGAGCAAGATGCTCATGGGAGGGAGGGAGCCAATGCTCCTGTCCTCTGAATAGGTCCAATATTGAGAGGAGAGGCTTGGAGATGGAGGGTCTCCATGAGAGCCCAGGTTAGAGGACTTTGAGGGCCAGAATGTTCTTAGAACTGTGGGCCAGGATGCTAAGGAAGAGGGCCAGCCTGGATTCCGGTGGTCCACAGAACCCCCAACGCTGTGTGCAGTATCTTGTCCATGTCTGCCTTTCTCAGGGACAGGGTTCAGAATTTTCATAAGATTCTCCAAAGTATTGGTGACCTCCAAAAATGGTGACCTCTGGCCTAGAAATGGTGTGTAAAATGGGAAGAGAAAAGAGCTTTGGTGCCAAATCCTGGATCCTGCCCATATTTAAGGAGGAGCGGATGAGAAGAATTGGGACAAGAAAGCAGAGGAGGAATTGGATGGGCTTTGCAGAAGCAGGAGAAAATCATGTCATGGACGCCAAGAGAATCAGGAGTTTGTAAGCAGAGCGGGCTGTGTAGAGTTGGCAGGTGACAGTCTGCAGTCACGTGGCAGGTGGAAGGCAGGTCATCTGATGGCTCCAAGGGGAAGAGCAGGGTGAGAGCCTGAGGGTGTCAGGCAGGTTTGAGGTCCCTCCTGGCAGGGATGAGAGGAGGAGCAGCATGTATGGGGTTTACTGGGAGGCAATGGGGCCCTGAGATGGGGAGCCGCATTGATGAGGGGTGTTCATCTGGGTGCAGGCTTCCTCCTGGCAGAGCCAGACCGACACCGCAGTTGAGGCTGACAGAGTTTCATGATCTTGAGTCACAGCAACAAAATCATGGGTTTCTGGTGACACTAACCCCTGCCCCCTCCCATGCCCAGTCCAGCCAGAAGTGTCCATTTCAGCCTCTCAGAGGCTGAGCCAAGATGGAGGCAACCTCAGCCGTGGAGTTAAA | GGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATTGTTGTGATAGTCTTCATCAGCACCACCATCATCACCATCTTCATCAGCACCACCATCACCACCTTTATCATCTTTCCTGCTACCTCTACCTTCACCTTCATTAGAGTCCTCATTGTCATCGTCATCGTCCTTGTTCCTACCACTGTGAGATCTGGGGGTTTGGGAAGGAATGTTTCTTCTTTACTCCACTGGATTCCATGAGGAAGGATGACTCACTGCATCCCAGGAAGGAGGAAGGACATCATCATCTTCACTGTCATCCTCAGTATCACCACCATGGTCATGGTCCTCAGGCAGTGCACGTCGTGCTTGACATACATTATTTCATTTAATAGTTATGACAGCCCTGTGAGTGGCCATTGTTATTTTTGTTTTACAGCTGAAGAAACTGAGACTCCATAAGTTCAAATGACTTTCCAATGGCAAAAATGATAATGATGATGATGACATTTATAATGGTATTAGTAATAATGAAACAATACTGTCTGTTATAATAGAAAGAATAAGAGCCTTGGAGTCTGCAGACCTCAGATCAAATTCCATCTCTACGAGTTAAACAAGGCTGTCTGAACTTAAGCAAGCATGTTAATTATAATAGTGGCTACTATTTGTTGAGATAGGCTAGCCAAGTGATTTAAATGCATAATTTCATTTAACACTTGGAATGACCTTAAAACTTTCAGAAGAGGACAAGGAGTGCCCAGAATTTGGAAGAGTAAGGACAAGCCTGGCACTGCCCCTTCCTGCCTGGGCATCTTTGGACAAACTATCTTACCTTCCATAAACCAGCTTTCTCACCTGGAAATGGGTCATAATTTCTCTTTCACAGAGATGCCGTGAGGATTAGAAATCACATATGGCCTCAGCTTGGGTCTTCAATAGTAGTTTATATCAATGTTATTTTTCCTAGTGAACCTTGACCCATGCCACACTGTTGGCTATGTGACAATGAATATAGAGAAAATAGAACTGCCTCCCACACACTATCTTGGGGTTTGTGAGTCTATACTTAGGACTCACCTTTTCCTTCCTGAGTTCAGAATCATTTGAGAGAGTCAGGAGGACAGATATAGAAATGTAGCTTTGTTACTGATTAGAGGCCAGCTTGGACGATGTGGCTTACATGCACAGCTATCATGGCTTCCTAATACTGAATCCCAGAATTCACTCAATTGCCTAGCTAGTCACGGGCAATGCTGGGCCACCTCAGGCTTCCCCACACAGAAACAGGGCCTTGGCTACCCAGCTCACTCTAGGCTGATATCACACCAGAGCAATGGCCTCCCCTGATTGGCCCATCACAAACAGGAAGAGGCTGGGCAAGTTTCTGGCCTTTAAACCAACCAATCAAATACACACCACTTCCTGCCCTGGGGTGTTGTTCTTTCCCAGGAAAACCAGAAGAGGAGCAAAGAAACATTCCTTCCCAACCCACTGGATGTCATGATATTTTCCAGGACTTCATAATGATTGAAAGATACTATTTTATTGATTTTTAAAGTATGGTCTAGTTTTTTTTTTTTTTTTGAGGGAGGATATAGAGGAAAATAATCCATTATTCTTGAGGCTCTATGTTTAATGAGAAAATGGGTCAAACCTCATGTACAACAACCCCCAGAGCATTTAACTATTGTTTAAAAATATTTTGTGAAATTTGAAAAATAAAAGCATTTATTTTTCTAGAATTTAAGACACGCTAAACTTTTTCTTTGTTTATTTGCTTTCTTTTTTCTTCTTCTTCTTCAGGATTTGGAGGAACTAGAAAAGGGACTTCAGGTCAAACTGTCAAACACAGAAATGTCGGGGGCTGGTGACTCTGAGTACATCACCCTGGCTGATGTGGAAAAGAAGGAGAGAGAATACTCTACAGCTAATCGATAATGTGCGTGCCAGACTTTCTTTCCTGTACACAAATTTTGGTTCCTAAAACAGTTAAATTGGCTACATTAGAGAGATGATAGTTAGAAGTGTGCCTAATACTTGAATTCCCCTATCGCATTCTGCCCTAGAGGCAGGATCCAGTTTCTGATGCTAAGTGATAGGGAAGAAGTAATTAAGCAGCAAAGATTCACAAAGGGAGGTTTATTTTTTATATCATGAATTATCCTCATTTAAATTTCAGATTGGTCTTTTTATCATTCAAAGCAAAGGTTGCTATAACCCTTGATGTCATCACTGCCCTTTGGAATAGAGTAGAAGAAAGCTGCTAGGCATCACTCGTGAAAGCAAGTTTTAAATTCCAGACAGAATGGCTTCTCTGAAACATCGTTTTTCTTTTCTTTTGGGTTCCACCACCCCCTGTTCATATATTATGTATTAAACAAACATGTCCTTGGCACTTGCTCTTCACCAGGGATTGTGCTGGGCACTGGGGACTCAAAAATCATTTAGACATGGCCCTGCCTGAGAGAGGCCAGGAGAGACAAACAGGTGAACAGATGAGGGCTTCACAGAGTGACACATCTTGTGATAGAAGGAAGCACAGGAGAAGGCCCGAGGCAGGCACAGTGGAGGGAAGAGTTCATTTTACCCCAGGCTTAGGAAAGCCTCCGTAGAAGAAGGGACCATGGAGAGGCTGGCCGGGAGAAGTGTGGGTGCTGGCCAGTGGTGGGGCAGAGATGGGAGCTAAAGAGGGCTGAGAGCAAGTCGAGGTAAGGTAAAGCCAGAGGGATCTGGCCAGAGGGCTTGTTTGTGTCTTAAGCCAGCGAGATGGGAGTGTCTATTGCCAGCGAGGTGGGAGTCACTGAAGCTTTGAAGCAGGGGGTGGCTGGCTTCAGCTTCTGCTTTAGAAGGGCTGCCCAGGCACTGAGTGGAGGGTGGTGAAGAGCTACTGGGCTAATCCAGCAGGAACTTTATTAAGGCAACTGCAGTAGGATGGAGAGGTGAGGAAACGTGTGAGAGAAGCTGTGGTGGTCTACCATGGGGCGGCAGGTGGGGAGGAGGAGGGGGTCCAGGGTCAGTGCTGCTGAAATAAGCGCCCCAGAGCAAGATGCTCATGGGAGGGAGGGAGCCAATGCTCCTGTCCTCTGAATAGGTCCAATATTGAGAGGAGAGGCTTGGAGATGGAGGGTCTCCATGAGAGCCCAGGTTAGAGGACTTTGAGGGCCAGAATGTTCTTAGAACTGTGGGCCAGGATGCTAAGGAAGAGGGCCAGCCTGGATTCCGGTGGTCCACAGAACCCCCAACGCTGTGTGCAGTATCTTGTCCATGTCTGCCTTTCTCAGGGACAGGGTTCAGAATTTTCATAAGATTCTCCAAAGTATTGGTGACCTCCAAAAATGGTGACCTCTGGCCTAGAAATGGTGTGTAAAATGGGAAGAGAAAAGAGCTTTGGTGCCAAATCCTGGATCCTGCCCATATTTAAGGAGGAGCGGATGAGAAGAATTGGGACAAGAAAGCAGAGGAGGAATTGGATGGGCTTTGCAGAAGCAGGAGAAAATCATGTCATGGACGCCAAGAGAATCAGGAGTTTGTAAGCAGAGCGGGCTGTGTAGAGTTGGCAGGTGACAGTCTGCAGTCACGTGGCAGGTGGAAGGCAGGTCATCTGATGGCTCCAAGGGGAAGAGCAGGGTGAGAGCCTGAGGGTGTCAGGCAGGTTTGAGGTCCCTCCTGGCAGGGATGAGAGGAGGAGCAGCATGTATGGGGTTTACTGGGAGGCAATGGGGCCCTGAGATGGGGAGCCGCATTGATGAGGGGTGTTCATCTGGGTGCAGGCTTCCTCCTGGCAGAGCCAGACCGACACCGCAGTTGAGGCTGACAGAGTTTCATGATCTTGAGTCACAGCAACAAAATCATGGGTTTCTGGTGACACTAACCCCTGCCCCCTCCCATGCCCAGTCCAGCCAGAAGTGTCCATTTCAGCCTCTCAGAGGCTGAGCCAAGATGGAGGCAACCTCAGCCGTGGAGTTAAANN | pathogenic | 79,780 |
Variant at chromosome position 5748241, chromosome 4, gene EVC (EvC ciliary complex subunit 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | GTGGGAGTCACTGAAGCTTTGAAGCAGGGGGTGGCTGGCTTCAGCTTCTGCTTTAGAAGGGCTGCCCAGGCACTGAGTGGAGGGTGGTGAAGAGCTACTGGGCTAATCCAGCAGGAACTTTATTAAGGCAACTGCAGTAGGATGGAGAGGTGAGGAAACGTGTGAGAGAAGCTGTGGTGGTCTACCATGGGGCGGCAGGTGGGGAGGAGGAGGGGGTCCAGGGTCAGTGCTGCTGAAATAAGCGCCCCAGAGCAAGATGCTCATGGGAGGGAGGGAGCCAATGCTCCTGTCCTCTGAATAGGTCCAATATTGAGAGGAGAGGCTTGGAGATGGAGGGTCTCCATGAGAGCCCAGGTTAGAGGACTTTGAGGGCCAGAATGTTCTTAGAACTGTGGGCCAGGATGCTAAGGAAGAGGGCCAGCCTGGATTCCGGTGGTCCACAGAACCCCCAACGCTGTGTGCAGTATCTTGTCCATGTCTGCCTTTCTCAGGGACAGGGTTCAGAATTTTCATAAGATTCTCCAAAGTATTGGTGACCTCCAAAAATGGTGACCTCTGGCCTAGAAATGGTGTGTAAAATGGGAAGAGAAAAGAGCTTTGGTGCCAAATCCTGGATCCTGCCCATATTTAAGGAGGAGCGGATGAGAAGAATTGGGACAAGAAAGCAGAGGAGGAATTGGATGGGCTTTGCAGAAGCAGGAGAAAATCATGTCATGGACGCCAAGAGAATCAGGAGTTTGTAAGCAGAGCGGGCTGTGTAGAGTTGGCAGGTGACAGTCTGCAGTCACGTGGCAGGTGGAAGGCAGGTCATCTGATGGCTCCAAGGGGAAGAGCAGGGTGAGAGCCTGAGGGTGTCAGGCAGGTTTGAGGTCCCTCCTGGCAGGGATGAGAGGAGGAGCAGCATGTATGGGGTTTACTGGGAGGCAATGGGGCCCTGAGATGGGGAGCCGCATTGATGAGGGGTGTTCATCTGGGTGCAGGCTTCCTCCTGGCAGAGCCAGACCGACACCGCAGTTGAGGCTGACAGAGTTTCATGATCTTGAGTCACAGCAACAAAATCATGGGTTTCTGGTGACACTAACCCCTGCCCCCTCCCATGCCCAGTCCAGCCAGAAGTGTCCATTTCAGCCTCTCAGAGGCTGAGCCAAGATGGAGGCAACCTCAGCCGTGGAGTTAAATGGACCTGAACCAAATCCGGGCTTTCACTGGGTCCATGACCTCTGACAAGTGACCTAACTCCCCCGAGCCTGTTCCTACACCTCTAGATACATACTTTATCATGATATCAAATGTGTGAAGCACAGAGCCTGGCGAACAGCCTGTGGGCCATGAGGGAAAGTTGCTCCGATTCCTAGTGTCATTGTCCTTAGAGCTCTGACTGGCTGTGATGACTCAATTAAACCTCCTGCATTCTAAGCCACTTGGGAATTCCCAGCTCTGCTCCTGATAAAATGAGGGGGAGGGAAGATTTTAAAGCAAAATGTTTTCATGGTCAGCATCCTCTCTGCCATATTAAGCTTTTGTACTTTTAGGACAATAACTAATATTTAAACATCTGTTTATGCTTTTACTTCCAGGAAGTATTTAATCCCATTTAAAATTGCCAAAGCTTCCATGAGCACATTGTCACATTTCATCGGCCCCTAGGTAGCTGTAATGACCTGTGCAAGAGTCTGTAGGCTGGACAAGCTACTGCTTTCTTTCCTTAGCAGCAGTGCTCTCGTGTCTGCTGAAACACCATTGCAAAACTGACTGACACTGGAACCAGACAATGGAACCAGAAAGAACTTCACTGTAGAACGTGATTGTTGCCAAGATAAACTCACTGAAACTGTAGAATTGTTTAGAATCTTTGTTTGTGATAGGGAGTGAATTGTAATTCCCGAGCACGCACCGTTTGGCTTTCTTAAGTAAGTTTTTCACCTCACTTCTTGCTGCTTGTGCTCATTTCACAGATGGAAGCTTTCTGGAAACAGATGGCAAATATCCAGCACTTTCTTGTGGACCAGTTTAAGTGTTCCAGCTCCAAAGCCCGACAGCTGATGATGACTCTGACGGAAAGAATGATTGCAGCCGAAGGGCTATTGTGCGATTCTCAGGAGCTGCAGGCTCTGGTAATGCTGGAGGGGGCGGGAGGGAACATAAAGATATTCAGACTAGAGATATGGAATCCTGAGGCTTGACATCCTTAAATCTAACAGATTCATGTTGTAGCTGGTTATATAGAGCCTCAGGGAAAAAAAAACCAACAACAACAGTAAATTCATTCATCCATTTATTTATTTATCCATCCATCCACCCATCCATCCACCCATTGACCCTTCCATCCATCCATCCATCTACCCATCCATCCATCTGCCCTCCCACCCATTTATCCATCCATCCATCCACCCATCCATCCATCCATCCACCCATCCATCCACCCACCCATCCATCCATCTGCCCTCCCACCCATTTATCCATCCATCCATCCCTCCATCCATCCATCCACCCACCCATCCATCCACCCGTCCACCCATCCACCCACCCACCCATCCACCCATCAATCCACCCATCCATCCATTTACTCATCCATCCATCCATCCACCCATCCATCCATCCATCCATCCATCCGTCTATCCAATGAGTGAAGGCTCTGGCCAGCTCAGTATTACTGGAGCATAGAACACTGGTCCTAAACCTGAAATTACACATTGAAATTATCTGGGAGCTTTAAAAAGTACTGATTCTTGGGCCCCAGATGGGTCTCCATCCCAGAGTTTCTGACTTAATCAGATTGGGGTGCAACCTGGCTGGGCATTGGGGTTTTTAGAGCTCCCCAATGACGATGGTGGGAGCTGGGGTTGACGCCCACTGGTGTAGACAGAGCATTGATTGACTTTCCTGATTGCCCTGTTTTGCCTGCAGAGTTCTTTAACAATGCCTTTTCCTGGCCTTCACTCTGAGGTTCTAATATGATTGGTCTGGAGTGGAGGCCCTGGCATTGTGGGTTTTAAAACTCCCTGAACTATTCTGACGGGAGGCCAGGGATACAAACCCCTGGTGCATGGGTGTCCAACCTTTTGGCTTCCCTGGGCCACATTGGAAGAAGAAGAATTGTCTTAGGCCACACATAAAATACATTAACACTAACGATAGCTGATGAGCGGAAAAAAAAAAAAAAAAAAAGGTCCCTCCTTATTTTTGTGAAGCCTGCCAACCACAGATAAGCAAAAAAGTCCTCACATTCAAAGGGTTGGACACCCGTGGGAGAGAAATCTGCGAATCCAGCTTTGACTCTGGGCTCTGTTGTTTGGAGCTGTGTGATCTTGAACACATTACTTAACCTCTCTGCGCGTCTGTTCCTCTATTTATAAAATAATAGTGCTAAGAGTTGCCACAGACAGGGCCTGGCTAGATGCTGAGTGACTCCTAACACCCCAGTCACCATTGGGTTCCTCTTGGTACACATTGGGCTCATCCTGTGTGCGCCAGTGTGTACTAGGGCCAGGGAACGAGCCCTCTGATGCTGCCCTGCACCCATTTCCCCGTCCTGTGCACCAGCCCGTGTGGCAGCTCGGCTCAGAACCCTGCAGTGGCCACCCTGCCCTCAGCACAGACTCAGCTCCTCAGACCCGTGGGAAAGCCAAGCCTCAACGGATCTTTGCCTCCCCTTGCACACCACATGCCTCTCCCAATCCGCTCTGCTCCTCCAGGTGTGATCCACAGACCACAGCATCGGCAACACTGGGAGCTGGTTAGAGTGCAGAATCCTGTCCTCCACCCTTCCCAAGCAGGATCTGCACTTTAACAAGACCCCCACATCCACACAGTTGTTTGAGAACTTCATGTGCTTTTTCTCGGTATATACACACATGGCCTTTTTTTTCTGTCAACACTGCCGAAAGATAGGTATGGAAGATATTTTATTCACAGCACGCAGATAAGGAGCCCACTCAGTGATCCACCTAAGATCCCCGTCCTCTCTAATGACATCGCTGAGCCTGGGCCTGAAGCTTCCTGGTTTGCTGCCCAAGCCCCTTTGAATTGGATTTCAGTTTGATAAGGCTGCTGACTCATTAATGCTCTGCAAAGGTGAAAGACTTTTCTTCCTATA | GTGGGAGTCACTGAAGCTTTGAAGCAGGGGGTGGCTGGCTTCAGCTTCTGCTTTAGAAGGGCTGCCCAGGCACTGAGTGGAGGGTGGTGAAGAGCTACTGGGCTAATCCAGCAGGAACTTTATTAAGGCAACTGCAGTAGGATGGAGAGGTGAGGAAACGTGTGAGAGAAGCTGTGGTGGTCTACCATGGGGCGGCAGGTGGGGAGGAGGAGGGGGTCCAGGGTCAGTGCTGCTGAAATAAGCGCCCCAGAGCAAGATGCTCATGGGAGGGAGGGAGCCAATGCTCCTGTCCTCTGAATAGGTCCAATATTGAGAGGAGAGGCTTGGAGATGGAGGGTCTCCATGAGAGCCCAGGTTAGAGGACTTTGAGGGCCAGAATGTTCTTAGAACTGTGGGCCAGGATGCTAAGGAAGAGGGCCAGCCTGGATTCCGGTGGTCCACAGAACCCCCAACGCTGTGTGCAGTATCTTGTCCATGTCTGCCTTTCTCAGGGACAGGGTTCAGAATTTTCATAAGATTCTCCAAAGTATTGGTGACCTCCAAAAATGGTGACCTCTGGCCTAGAAATGGTGTGTAAAATGGGAAGAGAAAAGAGCTTTGGTGCCAAATCCTGGATCCTGCCCATATTTAAGGAGGAGCGGATGAGAAGAATTGGGACAAGAAAGCAGAGGAGGAATTGGATGGGCTTTGCAGAAGCAGGAGAAAATCATGTCATGGACGCCAAGAGAATCAGGAGTTTGTAAGCAGAGCGGGCTGTGTAGAGTTGGCAGGTGACAGTCTGCAGTCACGTGGCAGGTGGAAGGCAGGTCATCTGATGGCTCCAAGGGGAAGAGCAGGGTGAGAGCCTGAGGGTGTCAGGCAGGTTTGAGGTCCCTCCTGGCAGGGATGAGAGGAGGAGCAGCATGTATGGGGTTTACTGGGAGGCAATGGGGCCCTGAGATGGGGAGCCGCATTGATGAGGGGTGTTCATCTGGGTGCAGGCTTCCTCCTGGCAGAGCCAGACCGACACCGCAGTTGAGGCTGACAGAGTTTCATGATCTTGAGTCACAGCAACAAAATCATGGGTTTCTGGTGACACTAACCCCTGCCCCCTCCCATGCCCAGTCCAGCCAGAAGTGTCCATTTCAGCCTCTCAGAGGCTGAGCCAAGATGGAGGCAACCTCAGCCGTGGAGTTAAATGGACCTGAACCAAATCCGGGCTTTCACTGGGTCCATGACCTCTGACAAGTGACCTAACTCCCCCGAGCCTGTTCCTACACCTCTAGATACATACTTTATCATGATATCAAATGTGTGAAGCACAGAGCCTGGCGAACAGCCTGTGGGCCATGAGGGAAAGTTGCTCCGATTCCTAGTGTCATTGTCCTTAGAGCTCTGACTGGCTGTGATGACTCAATTAAACCTCCTGCATTCTAAGCCACTTGGGAATTCCCAGCTCTGCTCCTGATAAAATGAGGGGGAGGGAAGATTTTAAAGCAAAATGTTTTCATGGTCAGCATCCTCTCTGCCATATTAAGCTTTTGTACTTTTAGGACAATAACTAATATTTAAACATCTGTTTATGCTTTTACTTCCAGGAAGTATTTAATCCCATTTAAAATTGCCAAAGCTTCCATGAGCACATTGTCACATTTCATCGGCCCCTAGGTAGCTGTAATGACCTGTGCAAGAGTCTGTAGGCTGGACAAGCTACTGCTTTCTTTCCTTAGCAGCAGTGCTCTCGTGTCTGCTGAAACACCATTGCAAAACTGACTGACACTGGAACCAGACAATGGAACCAGAAAGAACTTCACTGTAGAACGTGATTGTTGCCAAGATAAACTCACTGAAACTGTAGAATTGTTTAGAATCTTTGTTTGTGATAGGGAGTGAATTGTAATTCCCGAGCACGCACCGTTTGGCTTTCTTAAGTAAGTTTTTCACCTCACTTCTTGCTGCTTGTGCTCATTTCACAGATGGAAGCTTTCTGGAAACAGATGGCAAATATCCAGCACTTTCTTGTGGACCAGTTTAAGTGTTCCAGCTCCAAAGCCCGACAGCTGATGATGACTGACGGAAAGAATGATTGCAGCCGAAGGGCTATTGTGCGATTCTCAGGAGCTGCAGGCTCTGGTAATGCTGGAGGGGGCGGGAGGGAACATAAAGATATTCAGACTAGAGATATGGAATCCTGAGGCTTGACATCCTTAAATCTAACAGATTCATGTTGTAGCTGGTTATATAGAGCCTCAGGGAAAAAAAAACCAACAACAACAGTAAATTCATTCATCCATTTATTTATTTATCCATCCATCCACCCATCCATCCACCCATTGACCCTTCCATCCATCCATCCATCTACCCATCCATCCATCTGCCCTCCCACCCATTTATCCATCCATCCATCCACCCATCCATCCATCCATCCACCCATCCATCCACCCACCCATCCATCCATCTGCCCTCCCACCCATTTATCCATCCATCCATCCCTCCATCCATCCATCCACCCACCCATCCATCCACCCGTCCACCCATCCACCCACCCACCCATCCACCCATCAATCCACCCATCCATCCATTTACTCATCCATCCATCCATCCACCCATCCATCCATCCATCCATCCATCCGTCTATCCAATGAGTGAAGGCTCTGGCCAGCTCAGTATTACTGGAGCATAGAACACTGGTCCTAAACCTGAAATTACACATTGAAATTATCTGGGAGCTTTAAAAAGTACTGATTCTTGGGCCCCAGATGGGTCTCCATCCCAGAGTTTCTGACTTAATCAGATTGGGGTGCAACCTGGCTGGGCATTGGGGTTTTTAGAGCTCCCCAATGACGATGGTGGGAGCTGGGGTTGACGCCCACTGGTGTAGACAGAGCATTGATTGACTTTCCTGATTGCCCTGTTTTGCCTGCAGAGTTCTTTAACAATGCCTTTTCCTGGCCTTCACTCTGAGGTTCTAATATGATTGGTCTGGAGTGGAGGCCCTGGCATTGTGGGTTTTAAAACTCCCTGAACTATTCTGACGGGAGGCCAGGGATACAAACCCCTGGTGCATGGGTGTCCAACCTTTTGGCTTCCCTGGGCCACATTGGAAGAAGAAGAATTGTCTTAGGCCACACATAAAATACATTAACACTAACGATAGCTGATGAGCGGAAAAAAAAAAAAAAAAAAAGGTCCCTCCTTATTTTTGTGAAGCCTGCCAACCACAGATAAGCAAAAAAGTCCTCACATTCAAAGGGTTGGACACCCGTGGGAGAGAAATCTGCGAATCCAGCTTTGACTCTGGGCTCTGTTGTTTGGAGCTGTGTGATCTTGAACACATTACTTAACCTCTCTGCGCGTCTGTTCCTCTATTTATAAAATAATAGTGCTAAGAGTTGCCACAGACAGGGCCTGGCTAGATGCTGAGTGACTCCTAACACCCCAGTCACCATTGGGTTCCTCTTGGTACACATTGGGCTCATCCTGTGTGCGCCAGTGTGTACTAGGGCCAGGGAACGAGCCCTCTGATGCTGCCCTGCACCCATTTCCCCGTCCTGTGCACCAGCCCGTGTGGCAGCTCGGCTCAGAACCCTGCAGTGGCCACCCTGCCCTCAGCACAGACTCAGCTCCTCAGACCCGTGGGAAAGCCAAGCCTCAACGGATCTTTGCCTCCCCTTGCACACCACATGCCTCTCCCAATCCGCTCTGCTCCTCCAGGTGTGATCCACAGACCACAGCATCGGCAACACTGGGAGCTGGTTAGAGTGCAGAATCCTGTCCTCCACCCTTCCCAAGCAGGATCTGCACTTTAACAAGACCCCCACATCCACACAGTTGTTTGAGAACTTCATGTGCTTTTTCTCGGTATATACACACATGGCCTTTTTTTTCTGTCAACACTGCCGAAAGATAGGTATGGAAGATATTTTATTCACAGCACGCAGATAAGGAGCCCACTCAGTGATCCACCTAAGATCCCCGTCCTCTCTAATGACATCGCTGAGCCTGGGCCTGAAGCTTCCTGGTTTGCTGCCCAAGCCCCTTTGAATTGGATTTCAGTTTGATAAGGCTGCTGACTCATTAATGCTCTGCAAAGGTGAAAGACTTTTCTTCCTATANN | pathogenic | 79,800 |
A mutation at chromosome position 5748262 on chromosome 4 in gene EVC (EvC ciliary complex subunit 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | AAGCAGGGGGTGGCTGGCTTCAGCTTCTGCTTTAGAAGGGCTGCCCAGGCACTGAGTGGAGGGTGGTGAAGAGCTACTGGGCTAATCCAGCAGGAACTTTATTAAGGCAACTGCAGTAGGATGGAGAGGTGAGGAAACGTGTGAGAGAAGCTGTGGTGGTCTACCATGGGGCGGCAGGTGGGGAGGAGGAGGGGGTCCAGGGTCAGTGCTGCTGAAATAAGCGCCCCAGAGCAAGATGCTCATGGGAGGGAGGGAGCCAATGCTCCTGTCCTCTGAATAGGTCCAATATTGAGAGGAGAGGCTTGGAGATGGAGGGTCTCCATGAGAGCCCAGGTTAGAGGACTTTGAGGGCCAGAATGTTCTTAGAACTGTGGGCCAGGATGCTAAGGAAGAGGGCCAGCCTGGATTCCGGTGGTCCACAGAACCCCCAACGCTGTGTGCAGTATCTTGTCCATGTCTGCCTTTCTCAGGGACAGGGTTCAGAATTTTCATAAGATTCTCCAAAGTATTGGTGACCTCCAAAAATGGTGACCTCTGGCCTAGAAATGGTGTGTAAAATGGGAAGAGAAAAGAGCTTTGGTGCCAAATCCTGGATCCTGCCCATATTTAAGGAGGAGCGGATGAGAAGAATTGGGACAAGAAAGCAGAGGAGGAATTGGATGGGCTTTGCAGAAGCAGGAGAAAATCATGTCATGGACGCCAAGAGAATCAGGAGTTTGTAAGCAGAGCGGGCTGTGTAGAGTTGGCAGGTGACAGTCTGCAGTCACGTGGCAGGTGGAAGGCAGGTCATCTGATGGCTCCAAGGGGAAGAGCAGGGTGAGAGCCTGAGGGTGTCAGGCAGGTTTGAGGTCCCTCCTGGCAGGGATGAGAGGAGGAGCAGCATGTATGGGGTTTACTGGGAGGCAATGGGGCCCTGAGATGGGGAGCCGCATTGATGAGGGGTGTTCATCTGGGTGCAGGCTTCCTCCTGGCAGAGCCAGACCGACACCGCAGTTGAGGCTGACAGAGTTTCATGATCTTGAGTCACAGCAACAAAATCATGGGTTTCTGGTGACACTAACCCCTGCCCCCTCCCATGCCCAGTCCAGCCAGAAGTGTCCATTTCAGCCTCTCAGAGGCTGAGCCAAGATGGAGGCAACCTCAGCCGTGGAGTTAAATGGACCTGAACCAAATCCGGGCTTTCACTGGGTCCATGACCTCTGACAAGTGACCTAACTCCCCCGAGCCTGTTCCTACACCTCTAGATACATACTTTATCATGATATCAAATGTGTGAAGCACAGAGCCTGGCGAACAGCCTGTGGGCCATGAGGGAAAGTTGCTCCGATTCCTAGTGTCATTGTCCTTAGAGCTCTGACTGGCTGTGATGACTCAATTAAACCTCCTGCATTCTAAGCCACTTGGGAATTCCCAGCTCTGCTCCTGATAAAATGAGGGGGAGGGAAGATTTTAAAGCAAAATGTTTTCATGGTCAGCATCCTCTCTGCCATATTAAGCTTTTGTACTTTTAGGACAATAACTAATATTTAAACATCTGTTTATGCTTTTACTTCCAGGAAGTATTTAATCCCATTTAAAATTGCCAAAGCTTCCATGAGCACATTGTCACATTTCATCGGCCCCTAGGTAGCTGTAATGACCTGTGCAAGAGTCTGTAGGCTGGACAAGCTACTGCTTTCTTTCCTTAGCAGCAGTGCTCTCGTGTCTGCTGAAACACCATTGCAAAACTGACTGACACTGGAACCAGACAATGGAACCAGAAAGAACTTCACTGTAGAACGTGATTGTTGCCAAGATAAACTCACTGAAACTGTAGAATTGTTTAGAATCTTTGTTTGTGATAGGGAGTGAATTGTAATTCCCGAGCACGCACCGTTTGGCTTTCTTAAGTAAGTTTTTCACCTCACTTCTTGCTGCTTGTGCTCATTTCACAGATGGAAGCTTTCTGGAAACAGATGGCAAATATCCAGCACTTTCTTGTGGACCAGTTTAAGTGTTCCAGCTCCAAAGCCCGACAGCTGATGATGACTCTGACGGAAAGAATGATTGCAGCCGAAGGGCTATTGTGCGATTCTCAGGAGCTGCAGGCTCTGGTAATGCTGGAGGGGGCGGGAGGGAACATAAAGATATTCAGACTAGAGATATGGAATCCTGAGGCTTGACATCCTTAAATCTAACAGATTCATGTTGTAGCTGGTTATATAGAGCCTCAGGGAAAAAAAAACCAACAACAACAGTAAATTCATTCATCCATTTATTTATTTATCCATCCATCCACCCATCCATCCACCCATTGACCCTTCCATCCATCCATCCATCTACCCATCCATCCATCTGCCCTCCCACCCATTTATCCATCCATCCATCCACCCATCCATCCATCCATCCACCCATCCATCCACCCACCCATCCATCCATCTGCCCTCCCACCCATTTATCCATCCATCCATCCCTCCATCCATCCATCCACCCACCCATCCATCCACCCGTCCACCCATCCACCCACCCACCCATCCACCCATCAATCCACCCATCCATCCATTTACTCATCCATCCATCCATCCACCCATCCATCCATCCATCCATCCATCCGTCTATCCAATGAGTGAAGGCTCTGGCCAGCTCAGTATTACTGGAGCATAGAACACTGGTCCTAAACCTGAAATTACACATTGAAATTATCTGGGAGCTTTAAAAAGTACTGATTCTTGGGCCCCAGATGGGTCTCCATCCCAGAGTTTCTGACTTAATCAGATTGGGGTGCAACCTGGCTGGGCATTGGGGTTTTTAGAGCTCCCCAATGACGATGGTGGGAGCTGGGGTTGACGCCCACTGGTGTAGACAGAGCATTGATTGACTTTCCTGATTGCCCTGTTTTGCCTGCAGAGTTCTTTAACAATGCCTTTTCCTGGCCTTCACTCTGAGGTTCTAATATGATTGGTCTGGAGTGGAGGCCCTGGCATTGTGGGTTTTAAAACTCCCTGAACTATTCTGACGGGAGGCCAGGGATACAAACCCCTGGTGCATGGGTGTCCAACCTTTTGGCTTCCCTGGGCCACATTGGAAGAAGAAGAATTGTCTTAGGCCACACATAAAATACATTAACACTAACGATAGCTGATGAGCGGAAAAAAAAAAAAAAAAAAAGGTCCCTCCTTATTTTTGTGAAGCCTGCCAACCACAGATAAGCAAAAAAGTCCTCACATTCAAAGGGTTGGACACCCGTGGGAGAGAAATCTGCGAATCCAGCTTTGACTCTGGGCTCTGTTGTTTGGAGCTGTGTGATCTTGAACACATTACTTAACCTCTCTGCGCGTCTGTTCCTCTATTTATAAAATAATAGTGCTAAGAGTTGCCACAGACAGGGCCTGGCTAGATGCTGAGTGACTCCTAACACCCCAGTCACCATTGGGTTCCTCTTGGTACACATTGGGCTCATCCTGTGTGCGCCAGTGTGTACTAGGGCCAGGGAACGAGCCCTCTGATGCTGCCCTGCACCCATTTCCCCGTCCTGTGCACCAGCCCGTGTGGCAGCTCGGCTCAGAACCCTGCAGTGGCCACCCTGCCCTCAGCACAGACTCAGCTCCTCAGACCCGTGGGAAAGCCAAGCCTCAACGGATCTTTGCCTCCCCTTGCACACCACATGCCTCTCCCAATCCGCTCTGCTCCTCCAGGTGTGATCCACAGACCACAGCATCGGCAACACTGGGAGCTGGTTAGAGTGCAGAATCCTGTCCTCCACCCTTCCCAAGCAGGATCTGCACTTTAACAAGACCCCCACATCCACACAGTTGTTTGAGAACTTCATGTGCTTTTTCTCGGTATATACACACATGGCCTTTTTTTTCTGTCAACACTGCCGAAAGATAGGTATGGAAGATATTTTATTCACAGCACGCAGATAAGGAGCCCACTCAGTGATCCACCTAAGATCCCCGTCCTCTCTAATGACATCGCTGAGCCTGGGCCTGAAGCTTCCTGGTTTGCTGCCCAAGCCCCTTTGAATTGGATTTCAGTTTGATAAGGCTGCTGACTCATTAATGCTCTGCAAAGGTGAAAGACTTTTCTTCCTATATTTTTTTCTTTTGCTATCAGC | AAGCAGGGGGTGGCTGGCTTCAGCTTCTGCTTTAGAAGGGCTGCCCAGGCACTGAGTGGAGGGTGGTGAAGAGCTACTGGGCTAATCCAGCAGGAACTTTATTAAGGCAACTGCAGTAGGATGGAGAGGTGAGGAAACGTGTGAGAGAAGCTGTGGTGGTCTACCATGGGGCGGCAGGTGGGGAGGAGGAGGGGGTCCAGGGTCAGTGCTGCTGAAATAAGCGCCCCAGAGCAAGATGCTCATGGGAGGGAGGGAGCCAATGCTCCTGTCCTCTGAATAGGTCCAATATTGAGAGGAGAGGCTTGGAGATGGAGGGTCTCCATGAGAGCCCAGGTTAGAGGACTTTGAGGGCCAGAATGTTCTTAGAACTGTGGGCCAGGATGCTAAGGAAGAGGGCCAGCCTGGATTCCGGTGGTCCACAGAACCCCCAACGCTGTGTGCAGTATCTTGTCCATGTCTGCCTTTCTCAGGGACAGGGTTCAGAATTTTCATAAGATTCTCCAAAGTATTGGTGACCTCCAAAAATGGTGACCTCTGGCCTAGAAATGGTGTGTAAAATGGGAAGAGAAAAGAGCTTTGGTGCCAAATCCTGGATCCTGCCCATATTTAAGGAGGAGCGGATGAGAAGAATTGGGACAAGAAAGCAGAGGAGGAATTGGATGGGCTTTGCAGAAGCAGGAGAAAATCATGTCATGGACGCCAAGAGAATCAGGAGTTTGTAAGCAGAGCGGGCTGTGTAGAGTTGGCAGGTGACAGTCTGCAGTCACGTGGCAGGTGGAAGGCAGGTCATCTGATGGCTCCAAGGGGAAGAGCAGGGTGAGAGCCTGAGGGTGTCAGGCAGGTTTGAGGTCCCTCCTGGCAGGGATGAGAGGAGGAGCAGCATGTATGGGGTTTACTGGGAGGCAATGGGGCCCTGAGATGGGGAGCCGCATTGATGAGGGGTGTTCATCTGGGTGCAGGCTTCCTCCTGGCAGAGCCAGACCGACACCGCAGTTGAGGCTGACAGAGTTTCATGATCTTGAGTCACAGCAACAAAATCATGGGTTTCTGGTGACACTAACCCCTGCCCCCTCCCATGCCCAGTCCAGCCAGAAGTGTCCATTTCAGCCTCTCAGAGGCTGAGCCAAGATGGAGGCAACCTCAGCCGTGGAGTTAAATGGACCTGAACCAAATCCGGGCTTTCACTGGGTCCATGACCTCTGACAAGTGACCTAACTCCCCCGAGCCTGTTCCTACACCTCTAGATACATACTTTATCATGATATCAAATGTGTGAAGCACAGAGCCTGGCGAACAGCCTGTGGGCCATGAGGGAAAGTTGCTCCGATTCCTAGTGTCATTGTCCTTAGAGCTCTGACTGGCTGTGATGACTCAATTAAACCTCCTGCATTCTAAGCCACTTGGGAATTCCCAGCTCTGCTCCTGATAAAATGAGGGGGAGGGAAGATTTTAAAGCAAAATGTTTTCATGGTCAGCATCCTCTCTGCCATATTAAGCTTTTGTACTTTTAGGACAATAACTAATATTTAAACATCTGTTTATGCTTTTACTTCCAGGAAGTATTTAATCCCATTTAAAATTGCCAAAGCTTCCATGAGCACATTGTCACATTTCATCGGCCCCTAGGTAGCTGTAATGACCTGTGCAAGAGTCTGTAGGCTGGACAAGCTACTGCTTTCTTTCCTTAGCAGCAGTGCTCTCGTGTCTGCTGAAACACCATTGCAAAACTGACTGACACTGGAACCAGACAATGGAACCAGAAAGAACTTCACTGTAGAACGTGATTGTTGCCAAGATAAACTCACTGAAACTGTAGAATTGTTTAGAATCTTTGTTTGTGATAGGGAGTGAATTGTAATTCCCGAGCACGCACCGTTTGGCTTTCTTAAGTAAGTTTTTCACCTCACTTCTTGCTGCTTGTGCTCATTTCACAGATGGAAGCTTTCTGGAAACAGATGGCAAATATCCAGCACTTTCTTGTGGACCAGTTTAAGTGTTCCAGCTCCAAAGCCCGACAGCTGATGATGACTCTGACGGAAAGAATGATTGCAGCCAGCCGAAGGGCTATTGTGCGATTCTCAGGAGCTGCAGGCTCTGGTAATGCTGGAGGGGGCGGGAGGGAACATAAAGATATTCAGACTAGAGATATGGAATCCTGAGGCTTGACATCCTTAAATCTAACAGATTCATGTTGTAGCTGGTTATATAGAGCCTCAGGGAAAAAAAAACCAACAACAACAGTAAATTCATTCATCCATTTATTTATTTATCCATCCATCCACCCATCCATCCACCCATTGACCCTTCCATCCATCCATCCATCTACCCATCCATCCATCTGCCCTCCCACCCATTTATCCATCCATCCATCCACCCATCCATCCATCCATCCACCCATCCATCCACCCACCCATCCATCCATCTGCCCTCCCACCCATTTATCCATCCATCCATCCCTCCATCCATCCATCCACCCACCCATCCATCCACCCGTCCACCCATCCACCCACCCACCCATCCACCCATCAATCCACCCATCCATCCATTTACTCATCCATCCATCCATCCACCCATCCATCCATCCATCCATCCATCCGTCTATCCAATGAGTGAAGGCTCTGGCCAGCTCAGTATTACTGGAGCATAGAACACTGGTCCTAAACCTGAAATTACACATTGAAATTATCTGGGAGCTTTAAAAAGTACTGATTCTTGGGCCCCAGATGGGTCTCCATCCCAGAGTTTCTGACTTAATCAGATTGGGGTGCAACCTGGCTGGGCATTGGGGTTTTTAGAGCTCCCCAATGACGATGGTGGGAGCTGGGGTTGACGCCCACTGGTGTAGACAGAGCATTGATTGACTTTCCTGATTGCCCTGTTTTGCCTGCAGAGTTCTTTAACAATGCCTTTTCCTGGCCTTCACTCTGAGGTTCTAATATGATTGGTCTGGAGTGGAGGCCCTGGCATTGTGGGTTTTAAAACTCCCTGAACTATTCTGACGGGAGGCCAGGGATACAAACCCCTGGTGCATGGGTGTCCAACCTTTTGGCTTCCCTGGGCCACATTGGAAGAAGAAGAATTGTCTTAGGCCACACATAAAATACATTAACACTAACGATAGCTGATGAGCGGAAAAAAAAAAAAAAAAAAAGGTCCCTCCTTATTTTTGTGAAGCCTGCCAACCACAGATAAGCAAAAAAGTCCTCACATTCAAAGGGTTGGACACCCGTGGGAGAGAAATCTGCGAATCCAGCTTTGACTCTGGGCTCTGTTGTTTGGAGCTGTGTGATCTTGAACACATTACTTAACCTCTCTGCGCGTCTGTTCCTCTATTTATAAAATAATAGTGCTAAGAGTTGCCACAGACAGGGCCTGGCTAGATGCTGAGTGACTCCTAACACCCCAGTCACCATTGGGTTCCTCTTGGTACACATTGGGCTCATCCTGTGTGCGCCAGTGTGTACTAGGGCCAGGGAACGAGCCCTCTGATGCTGCCCTGCACCCATTTCCCCGTCCTGTGCACCAGCCCGTGTGGCAGCTCGGCTCAGAACCCTGCAGTGGCCACCCTGCCCTCAGCACAGACTCAGCTCCTCAGACCCGTGGGAAAGCCAAGCCTCAACGGATCTTTGCCTCCCCTTGCACACCACATGCCTCTCCCAATCCGCTCTGCTCCTCCAGGTGTGATCCACAGACCACAGCATCGGCAACACTGGGAGCTGGTTAGAGTGCAGAATCCTGTCCTCCACCCTTCCCAAGCAGGATCTGCACTTTAACAAGACCCCCACATCCACACAGTTGTTTGAGAACTTCATGTGCTTTTTCTCGGTATATACACACATGGCCTTTTTTTTCTGTCAACACTGCCGAAAGATAGGTATGGAAGATATTTTATTCACAGCACGCAGATAAGGAGCCCACTCAGTGATCCACCTAAGATCCCCGTCCTCTCTAATGACATCGCTGAGCCTGGGCCTGAAGCTTCCTGGTTTGCTGCCCAAGCCCCTTTGAATTGGATTTCAGTTTGATAAGGCTGCTGACTCATTAATGCTCTGCAAAGGTGAAAGACTTTTCTTCCTATATTTTTTTCTTTTGCTAT | pathogenic | 79,803 |
Evaluate this variant at chromosome 4, position 5753839, gene EVC (EvC ciliary complex subunit 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | GACATAGAAGGACCTGGCTGGGCAGGGGAGTGAGAGGAGGCAGTGAGGGTGTTCCAGGAGGAAGGCCCCGCATGTGCAGAGGCTGGGCAGCCGGGACCAGGCAGGTGTGCAGGACAGGGCCCCACAGAACTTCCTGCACCATGCCTGGGGTGCTGGACTTGATCTCAGGGCAGCAACAGGAGGGTTTGGGGCCATGGCTGACAGAACCATCAGCATCTCTGAAAGGTCCGCTGTTCTGTGAGGTGGGGTTAGAGCATGGGGCAGAGATGGGAGGCTGGGGAGCAGGACTGGCCTGTGGCCTCGGCCCAGCACAGAGGTGCCTAGGCCTGAGCTGGGCGTGGCTGGGAGTGGGGGGTGCAGAGTCTGTGCCGAGGGAGATGCCAACGTCCGCCGTCCGCTCCTCCTTTCCCCCTTACTCTCATTCCACAAGCAGCTGCTCTCAGGTGTGCAGGGCCCTTGGCTGCCTCCGGTTGACATTTCCCCCTGTCTTTTCTGAGAGTCCCTGAAATGATGAGGTGGGGCTGGGGAGGGCCTTCTGTAGAATCTGACTGCGGGGAGTCGTGTTGGAAGCCAATCATTCCCCTGAAAATCTCGGCCGTCCTCAGCAGTCAGGCTCTCTGGGGCTCTAACAAAAGCCAGGAACTGCTGGCACTTTGCATTTCCTCCACAGCCCTGTGGGGGCCACAGGGCCAGATTGGCCGGGGGAGATGACTATAAGCCAGGTGGCTTTTCCTCCTTGACCGTTTGTAAATCTGGATTCCCTCCTAGGAGGGTGGCCCTCTGGGGAGCGCTACTGGTGACTAAGTGCCTACATGCTAAGCTGCGTCAGCCTCCCCGCACCCTAGGAGAGACACTTAATCCCCACCTCGGGGGCAGACGCAGATCTCGCTCATGAAGGAGAGGGGGAGTTCATCCCTCTGAGCTCCGCTCTCCCAGGCAGTGCCATTAGTTAATGACCCTGGTGGCTTCTTCTCAGCTGTTAATTAACATGCCCTGGTGGTTCCCAGGACACCCCAGCTATGGTCCTGTGTGTTTCTTTTTGCAGGACGCCCTGGAGAGGACGATGGGGCGGGCGCACATGGCAAAAGTGATTGAGTTTCTGAAGCTGCAAGTCCAGGAGGAGACCAGGTGCCGGCTGGCTGCCATCTCCCACGGCCTGGAGCTGCTGGCTGGTGAGGGGAAGCTGTCCGGGCGGCAGAAGGAGGAGCTGCTCACGCAGCAGCACAAGGCCTTCTGGCAGGAGGCAGAGCGCTTCAGCCGGGGTGAGCCGTGGGCATGGGTGCCGCCGTCCACAACACTGGCCTTCTGGGTCCCTGGGGCTGTGCAGTGAGAGGGCTGGCAGCCTGGGGCAGTGTGCCCATGATGCCGGGCACAGGCTGCCTTTCTGCTTCTGCCCTAGGGACTGGGTCACTGGGCTGCTCTCTGGGGCTCTCTTCCCTTCTCTGTACAGCAGAGTCCATGAGGGCCACTGCCCAGGGCAGGGGTCACCTGCTGCACTCACTCACCAGGGATTCCGGCTGATTGAGTCCCCACGTCCTGCAGCAAAGCCACCAGGAACTGCAGAGGGACAGAGGAGGGTGAAGGGTCTCACTAGAAATTTACACAAAGTGGTCCCTGTCGCCCAGCGGCAGCTCATGGTCATGCTGGAGTCATGTGGCCCTGCTCAGCGGCAGAGTGGGTGAGGGTGGGCCATGGTCCAGCATGTGGGGCAGGAAGGGGAGCCGTGCATGTGTCCCACACATGCTCCTGCCCCAAGGCTGACCCTGGGGTGGGGGTGGGGCAAGGCTCAAGACGTGGAGGCATCTGGGCTTAGCTGAGGTCACACTACTAGTGGGACCTACAGAAAAACCCAGGTGTGTCACCAGCAGGGCGGGCACCATCTCTGCAGCCGACACCAGCTTCCCCAACCTCCAGACAGGAGAAAGCATGAGGGTCCCCACTGAAATTCTGGCTCACAGAGTCACCTCCTATGCTGTGGCTTTTTTCAATCCCAGAGTTTGTCCAGCGAGGCAAAGACCTGGTCACGGCGTCTCTGGCTCACCAGGTGGAGGGAACGGCAAAACTCACGCTGGCCCAAGAGGAGGAACAGAGAAGCTTCCTGGCTGAGGCCCAGCCGACTGCTGACCCGGAAAAGTTTCTCGAGGTGACTCACATCCCCAGCCTCTGCACATGTGGGTGAGCCAGTTGTAGCTCTGTTCCCGTGACTGAGCACGGGACGCCGGAGGTATTCATCAGGCATGAGGTTATCTGCCTACTTCCCATGTGTCAGCCGAGTGACCGAATCTCAGTCCCTTAGCCCCTACATCCCTAGGGTCCTAGTGGACTGTAAGCTGGTGATAAGAGTTGTGCTGCCCTCACTGGGCTGCTGAGAAGAGGAGGGGGTAGGATCCGTAGAGAGCTTGGCAGAGTGCAGACGCATGGCAGGAGCACACAGATGGTGGCAATGGCGTGAAGGGAGCAATGTGTGGCCCAGAGGGGACAAGCATGTCCCGGAGAGTAAGGCAGGCTCACACACCCAGGGACAGGGCCCTTGTGGGTCGGCTGCAAGTCCAGGAGAAGGAAGGGAGTTCCCAGCCTTGCATGTGGGGTTGAGTGGTCAGGGCCAGGAGGTGGCCAAGGTCAGAGGTACCCTTGGTCTTGCCTGAGAAGGGGACAAGAAGACCTGAAGGAGGACAAAAAGCAAGATGTCACCCTCCAAGGAAAAGGAGTCAGCTGGCCCCAGTGCAGGCTCTAAGGACCTGGACTCGCCAGTTCTCAGAGAGACCACCGAGCTCTGGTTTCGCTCTGCTTGCTTTCACTAGTAATGGGCAGTGGGGCTGGGAGAGGACCAGCTTGTCCGTAACCGTCTTGCAGGCTGGTTAAGCATTGGGCGCTGAGGCCAGCCACACTTGGGTTTGGGTGCTGACTCTGCCACTAAATAGCTGGGTGACCTTGGGCATGTTGCTTACCCTCTGGCCCTCAGCTTCCACATCTGTGAAATGGGCATAATGGCACCTATATCACAGCATTGTTAGGATTCAGTGAGACCAAGGAAGGGGCAGCCCCAGCCTCACTGTTTGCCTGGGTCCGCCTGCCCTCCGTCAACACTTGGTACAGCACATCTCAGTTCTGCCAAGGGGTGGGTGGCACCATGTCTGGGTCCAGGCTCAGCCCAGAATAGAGGCCCAGGGGCTCTCCCTGGGGGCCAAGCTGGTGGTGGTGGCACCACTGCAGTGAGAAGCCAATGGAGGGGTCCCCCGAGAACAGAGGACAGGCCTCTAGGTCCCTGGTCCAGCTGCCTCCCTCACCCAGGGGGCCTCTTCCAGGCCCATACTTGGAGCTTCTGCATTTGCCACAAAGGGGTAGGGTAGGTTTTTCTATCTTTGAGACCCATTTGAAATAAGAGGAAGATAAGGCTATTCAGCTCCTCGTTATTTGGATATTTCTGGGCCCCTGTCCTTGATGTCACAGAGCCCAGTGTGAGTCCAGAGTGTGGAGACAGTGCCTGGGTGACCTTGGTGTCCCAGGGCCTCGGTACAGTCCTCGGAACGCCTCAGCGCTGGCGTTCAGGACACGTGGGACGCAGGCAGGGAAGGGTGAATGAGCGCATGCGTGCCTGAATGAACCAGGACATGGACAAATGGGCAAACGAGCGAATGAAGGAGGATGGAATGGGTGGGAGAATGAACGAACGACACCAGGCTCCCAGTACACACTCAGCACCCACCTTTTTCCAGTCCCGCCCTTCTCTCTCATCTCACCTCCTGCCCGTAGCATCACCAAAGATCTTAGGGGGTTTACCTCCTGGTCTCTGCTGCTGCTCGCTGAGCCTGGCTCCCCATCTTCCCTCCAAGGAGTCCTTCCTTGTCCTTAGAGACTCCATTGAAACATCTCCCCAACAGGGAATTTTCTCCTGCAACCCTTCCCTGAGAAGGGTCTGTTCCTCTGTCCTTCTGCCCCACCTCGCCCCTCGCTGATGCTCTGTTTAGGGCTGGCTGGGTCTCCCCCTGCTGATGCCCGGGTTAGCCCAGTCTCCTGCTGCTCTGCTGGGGTCCTCAGGGAAGGGCCTCCACCCCGTGGTCACAGTGGGGCCTGGCTGGTTGCTGACTGCACTGAC | GACATAGAAGGACCTGGCTGGGCAGGGGAGTGAGAGGAGGCAGTGAGGGTGTTCCAGGAGGAAGGCCCCGCATGTGCAGAGGCTGGGCAGCCGGGACCAGGCAGGTGTGCAGGACAGGGCCCCACAGAACTTCCTGCACCATGCCTGGGGTGCTGGACTTGATCTCAGGGCAGCAACAGGAGGGTTTGGGGCCATGGCTGACAGAACCATCAGCATCTCTGAAAGGTCCGCTGTTCTGTGAGGTGGGGTTAGAGCATGGGGCAGAGATGGGAGGCTGGGGAGCAGGACTGGCCTGTGGCCTCGGCCCAGCACAGAGGTGCCTAGGCCTGAGCTGGGCGTGGCTGGGAGTGGGGGGTGCAGAGTCTGTGCCGAGGGAGATGCCAACGTCCGCCGTCCGCTCCTCCTTTCCCCCTTACTCTCATTCCACAAGCAGCTGCTCTCAGGTGTGCAGGGCCCTTGGCTGCCTCCGGTTGACATTTCCCCCTGTCTTTTCTGAGAGTCCCTGAAATGATGAGGTGGGGCTGGGGAGGGCCTTCTGTAGAATCTGACTGCGGGGAGTCGTGTTGGAAGCCAATCATTCCCCTGAAAATCTCGGCCGTCCTCAGCAGTCAGGCTCTCTGGGGCTCTAACAAAAGCCAGGAACTGCTGGCACTTTGCATTTCCTCCACAGCCCTGTGGGGGCCACAGGGCCAGATTGGCCGGGGGAGATGACTATAAGCCAGGTGGCTTTTCCTCCTTGACCGTTTGTAAATCTGGATTCCCTCCTAGGAGGGTGGCCCTCTGGGGAGCGCTACTGGTGACTAAGTGCCTACATGCTAAGCTGCGTCAGCCTCCCCGCACCCTAGGAGAGACACTTAATCCCCACCTCGGGGGCAGACGCAGATCTCGCTCATGAAGGAGAGGGGGAGTTCATCCCTCTGAGCTCCGCTCTCCCAGGCAGTGCCATTAGTTAATGACCCTGGTGGCTTCTTCTCAGCTGTTAATTAACATGCCCTGGTGGTTCCCAGGACACCCCAGCTATGGTCCTGTGTGTTTCTTTTTGCAGGACGCCCTGGAGAGGACGATGGGGCGGGCGCACATGGCAAAAGTGATTGAGTTTCTGAAGCTGCAAGTCCAGGAGGAGACCAGGTGCCGGCTGGCTGCCATCTCCCACGGCCTGGAGCTGCTGGCTGGTGAGGGGAAGCTGTCCGGGCGGCAGAAGGAGGAGCTGCTCACGCAGCAGCACAAGGCCTTCTGGCAGGAGGCAGAGCGCTTCAGCCGGGGTGAGCCGTGGGCATGGGTGCCGCCGTCCACAACACTGGCCTTCTGGGTCCCTGGGGCTGTGCAGTGAGAGGGCTGGCAGCCTGGGGCAGTGTGCCCATGATGCCGGGCACAGGCTGCCTTTCTGCTTCTGCCCTAGGGACTGGGTCACTGGGCTGCTCTCTGGGGCTCTCTTCCCTTCTCTGTACAGCAGAGTCCATGAGGGCCACTGCCCAGGGCAGGGGTCACCTGCTGCACTCACTCACCAGGGATTCCGGCTGATTGAGTCCCCACGTCCTGCAGCAAAGCCACCAGGAACTGCAGAGGGACAGAGGAGGGTGAAGGGTCTCACTAGAAATTTACACAAAGTGGTCCCTGTCGCCCAGCGGCAGCTCATGGTCATGCTGGAGTCATGTGGCCCTGCTCAGCGGCAGAGTGGGTGAGGGTGGGCCATGGTCCAGCATGTGGGGCAGGAAGGGGAGCCGTGCATGTGTCCCACACATGCTCCTGCCCCAAGGCTGACCCTGGGGTGGGGGTGGGGCAAGGCTCAAGACGTGGAGGCATCTGGGCTTAGCTGAGGTCACACTACTAGTGGGACCTACAGAAAAACCCAGGTGTGTCACCAGCAGGGCGGGCACCATCTCTGCAGCCGACACCAGCTTCCCCAACCTCCAGACAGGAGAAAGCATGAGGGTCCCCACTGAAATTCTGGCTCACAGAGTCACCTCCTATGCTGTGGCTTTTTTCAATCCCAGAGTTTGTCCAGCGAGGCAAAGACCTGGTCACGGCGTCTCTGGCTCACCAGGTGGAGGAACGGCAAAACTCACGCTGGCCCAAGAGGAGGAACAGAGAAGCTTCCTGGCTGAGGCCCAGCCGACTGCTGACCCGGAAAAGTTTCTCGAGGTGACTCACATCCCCAGCCTCTGCACATGTGGGTGAGCCAGTTGTAGCTCTGTTCCCGTGACTGAGCACGGGACGCCGGAGGTATTCATCAGGCATGAGGTTATCTGCCTACTTCCCATGTGTCAGCCGAGTGACCGAATCTCAGTCCCTTAGCCCCTACATCCCTAGGGTCCTAGTGGACTGTAAGCTGGTGATAAGAGTTGTGCTGCCCTCACTGGGCTGCTGAGAAGAGGAGGGGGTAGGATCCGTAGAGAGCTTGGCAGAGTGCAGACGCATGGCAGGAGCACACAGATGGTGGCAATGGCGTGAAGGGAGCAATGTGTGGCCCAGAGGGGACAAGCATGTCCCGGAGAGTAAGGCAGGCTCACACACCCAGGGACAGGGCCCTTGTGGGTCGGCTGCAAGTCCAGGAGAAGGAAGGGAGTTCCCAGCCTTGCATGTGGGGTTGAGTGGTCAGGGCCAGGAGGTGGCCAAGGTCAGAGGTACCCTTGGTCTTGCCTGAGAAGGGGACAAGAAGACCTGAAGGAGGACAAAAAGCAAGATGTCACCCTCCAAGGAAAAGGAGTCAGCTGGCCCCAGTGCAGGCTCTAAGGACCTGGACTCGCCAGTTCTCAGAGAGACCACCGAGCTCTGGTTTCGCTCTGCTTGCTTTCACTAGTAATGGGCAGTGGGGCTGGGAGAGGACCAGCTTGTCCGTAACCGTCTTGCAGGCTGGTTAAGCATTGGGCGCTGAGGCCAGCCACACTTGGGTTTGGGTGCTGACTCTGCCACTAAATAGCTGGGTGACCTTGGGCATGTTGCTTACCCTCTGGCCCTCAGCTTCCACATCTGTGAAATGGGCATAATGGCACCTATATCACAGCATTGTTAGGATTCAGTGAGACCAAGGAAGGGGCAGCCCCAGCCTCACTGTTTGCCTGGGTCCGCCTGCCCTCCGTCAACACTTGGTACAGCACATCTCAGTTCTGCCAAGGGGTGGGTGGCACCATGTCTGGGTCCAGGCTCAGCCCAGAATAGAGGCCCAGGGGCTCTCCCTGGGGGCCAAGCTGGTGGTGGTGGCACCACTGCAGTGAGAAGCCAATGGAGGGGTCCCCCGAGAACAGAGGACAGGCCTCTAGGTCCCTGGTCCAGCTGCCTCCCTCACCCAGGGGGCCTCTTCCAGGCCCATACTTGGAGCTTCTGCATTTGCCACAAAGGGGTAGGGTAGGTTTTTCTATCTTTGAGACCCATTTGAAATAAGAGGAAGATAAGGCTATTCAGCTCCTCGTTATTTGGATATTTCTGGGCCCCTGTCCTTGATGTCACAGAGCCCAGTGTGAGTCCAGAGTGTGGAGACAGTGCCTGGGTGACCTTGGTGTCCCAGGGCCTCGGTACAGTCCTCGGAACGCCTCAGCGCTGGCGTTCAGGACACGTGGGACGCAGGCAGGGAAGGGTGAATGAGCGCATGCGTGCCTGAATGAACCAGGACATGGACAAATGGGCAAACGAGCGAATGAAGGAGGATGGAATGGGTGGGAGAATGAACGAACGACACCAGGCTCCCAGTACACACTCAGCACCCACCTTTTTCCAGTCCCGCCCTTCTCTCTCATCTCACCTCCTGCCCGTAGCATCACCAAAGATCTTAGGGGGTTTACCTCCTGGTCTCTGCTGCTGCTCGCTGAGCCTGGCTCCCCATCTTCCCTCCAAGGAGTCCTTCCTTGTCCTTAGAGACTCCATTGAAACATCTCCCCAACAGGGAATTTTCTCCTGCAACCCTTCCCTGAGAAGGGTCTGTTCCTCTGTCCTTCTGCCCCACCTCGCCCCTCGCTGATGCTCTGTTTAGGGCTGGCTGGGTCTCCCCCTGCTGATGCCCGGGTTAGCCCAGTCTCCTGCTGCTCTGCTGGGGTCCTCAGGGAAGGGCCTCCACCCCGTGGTCACAGTGGGGCCTGGCTGGTTGCTGACTGCACTGACN | pathogenic | 79,828 |
Does the variant on chromosome 4 at location 5753855 affecting gene EVC (EvC ciliary complex subunit 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | GCTGGGCAGGGGAGTGAGAGGAGGCAGTGAGGGTGTTCCAGGAGGAAGGCCCCGCATGTGCAGAGGCTGGGCAGCCGGGACCAGGCAGGTGTGCAGGACAGGGCCCCACAGAACTTCCTGCACCATGCCTGGGGTGCTGGACTTGATCTCAGGGCAGCAACAGGAGGGTTTGGGGCCATGGCTGACAGAACCATCAGCATCTCTGAAAGGTCCGCTGTTCTGTGAGGTGGGGTTAGAGCATGGGGCAGAGATGGGAGGCTGGGGAGCAGGACTGGCCTGTGGCCTCGGCCCAGCACAGAGGTGCCTAGGCCTGAGCTGGGCGTGGCTGGGAGTGGGGGGTGCAGAGTCTGTGCCGAGGGAGATGCCAACGTCCGCCGTCCGCTCCTCCTTTCCCCCTTACTCTCATTCCACAAGCAGCTGCTCTCAGGTGTGCAGGGCCCTTGGCTGCCTCCGGTTGACATTTCCCCCTGTCTTTTCTGAGAGTCCCTGAAATGATGAGGTGGGGCTGGGGAGGGCCTTCTGTAGAATCTGACTGCGGGGAGTCGTGTTGGAAGCCAATCATTCCCCTGAAAATCTCGGCCGTCCTCAGCAGTCAGGCTCTCTGGGGCTCTAACAAAAGCCAGGAACTGCTGGCACTTTGCATTTCCTCCACAGCCCTGTGGGGGCCACAGGGCCAGATTGGCCGGGGGAGATGACTATAAGCCAGGTGGCTTTTCCTCCTTGACCGTTTGTAAATCTGGATTCCCTCCTAGGAGGGTGGCCCTCTGGGGAGCGCTACTGGTGACTAAGTGCCTACATGCTAAGCTGCGTCAGCCTCCCCGCACCCTAGGAGAGACACTTAATCCCCACCTCGGGGGCAGACGCAGATCTCGCTCATGAAGGAGAGGGGGAGTTCATCCCTCTGAGCTCCGCTCTCCCAGGCAGTGCCATTAGTTAATGACCCTGGTGGCTTCTTCTCAGCTGTTAATTAACATGCCCTGGTGGTTCCCAGGACACCCCAGCTATGGTCCTGTGTGTTTCTTTTTGCAGGACGCCCTGGAGAGGACGATGGGGCGGGCGCACATGGCAAAAGTGATTGAGTTTCTGAAGCTGCAAGTCCAGGAGGAGACCAGGTGCCGGCTGGCTGCCATCTCCCACGGCCTGGAGCTGCTGGCTGGTGAGGGGAAGCTGTCCGGGCGGCAGAAGGAGGAGCTGCTCACGCAGCAGCACAAGGCCTTCTGGCAGGAGGCAGAGCGCTTCAGCCGGGGTGAGCCGTGGGCATGGGTGCCGCCGTCCACAACACTGGCCTTCTGGGTCCCTGGGGCTGTGCAGTGAGAGGGCTGGCAGCCTGGGGCAGTGTGCCCATGATGCCGGGCACAGGCTGCCTTTCTGCTTCTGCCCTAGGGACTGGGTCACTGGGCTGCTCTCTGGGGCTCTCTTCCCTTCTCTGTACAGCAGAGTCCATGAGGGCCACTGCCCAGGGCAGGGGTCACCTGCTGCACTCACTCACCAGGGATTCCGGCTGATTGAGTCCCCACGTCCTGCAGCAAAGCCACCAGGAACTGCAGAGGGACAGAGGAGGGTGAAGGGTCTCACTAGAAATTTACACAAAGTGGTCCCTGTCGCCCAGCGGCAGCTCATGGTCATGCTGGAGTCATGTGGCCCTGCTCAGCGGCAGAGTGGGTGAGGGTGGGCCATGGTCCAGCATGTGGGGCAGGAAGGGGAGCCGTGCATGTGTCCCACACATGCTCCTGCCCCAAGGCTGACCCTGGGGTGGGGGTGGGGCAAGGCTCAAGACGTGGAGGCATCTGGGCTTAGCTGAGGTCACACTACTAGTGGGACCTACAGAAAAACCCAGGTGTGTCACCAGCAGGGCGGGCACCATCTCTGCAGCCGACACCAGCTTCCCCAACCTCCAGACAGGAGAAAGCATGAGGGTCCCCACTGAAATTCTGGCTCACAGAGTCACCTCCTATGCTGTGGCTTTTTTCAATCCCAGAGTTTGTCCAGCGAGGCAAAGACCTGGTCACGGCGTCTCTGGCTCACCAGGTGGAGGGAACGGCAAAACTCACGCTGGCCCAAGAGGAGGAACAGAGAAGCTTCCTGGCTGAGGCCCAGCCGACTGCTGACCCGGAAAAGTTTCTCGAGGTGACTCACATCCCCAGCCTCTGCACATGTGGGTGAGCCAGTTGTAGCTCTGTTCCCGTGACTGAGCACGGGACGCCGGAGGTATTCATCAGGCATGAGGTTATCTGCCTACTTCCCATGTGTCAGCCGAGTGACCGAATCTCAGTCCCTTAGCCCCTACATCCCTAGGGTCCTAGTGGACTGTAAGCTGGTGATAAGAGTTGTGCTGCCCTCACTGGGCTGCTGAGAAGAGGAGGGGGTAGGATCCGTAGAGAGCTTGGCAGAGTGCAGACGCATGGCAGGAGCACACAGATGGTGGCAATGGCGTGAAGGGAGCAATGTGTGGCCCAGAGGGGACAAGCATGTCCCGGAGAGTAAGGCAGGCTCACACACCCAGGGACAGGGCCCTTGTGGGTCGGCTGCAAGTCCAGGAGAAGGAAGGGAGTTCCCAGCCTTGCATGTGGGGTTGAGTGGTCAGGGCCAGGAGGTGGCCAAGGTCAGAGGTACCCTTGGTCTTGCCTGAGAAGGGGACAAGAAGACCTGAAGGAGGACAAAAAGCAAGATGTCACCCTCCAAGGAAAAGGAGTCAGCTGGCCCCAGTGCAGGCTCTAAGGACCTGGACTCGCCAGTTCTCAGAGAGACCACCGAGCTCTGGTTTCGCTCTGCTTGCTTTCACTAGTAATGGGCAGTGGGGCTGGGAGAGGACCAGCTTGTCCGTAACCGTCTTGCAGGCTGGTTAAGCATTGGGCGCTGAGGCCAGCCACACTTGGGTTTGGGTGCTGACTCTGCCACTAAATAGCTGGGTGACCTTGGGCATGTTGCTTACCCTCTGGCCCTCAGCTTCCACATCTGTGAAATGGGCATAATGGCACCTATATCACAGCATTGTTAGGATTCAGTGAGACCAAGGAAGGGGCAGCCCCAGCCTCACTGTTTGCCTGGGTCCGCCTGCCCTCCGTCAACACTTGGTACAGCACATCTCAGTTCTGCCAAGGGGTGGGTGGCACCATGTCTGGGTCCAGGCTCAGCCCAGAATAGAGGCCCAGGGGCTCTCCCTGGGGGCCAAGCTGGTGGTGGTGGCACCACTGCAGTGAGAAGCCAATGGAGGGGTCCCCCGAGAACAGAGGACAGGCCTCTAGGTCCCTGGTCCAGCTGCCTCCCTCACCCAGGGGGCCTCTTCCAGGCCCATACTTGGAGCTTCTGCATTTGCCACAAAGGGGTAGGGTAGGTTTTTCTATCTTTGAGACCCATTTGAAATAAGAGGAAGATAAGGCTATTCAGCTCCTCGTTATTTGGATATTTCTGGGCCCCTGTCCTTGATGTCACAGAGCCCAGTGTGAGTCCAGAGTGTGGAGACAGTGCCTGGGTGACCTTGGTGTCCCAGGGCCTCGGTACAGTCCTCGGAACGCCTCAGCGCTGGCGTTCAGGACACGTGGGACGCAGGCAGGGAAGGGTGAATGAGCGCATGCGTGCCTGAATGAACCAGGACATGGACAAATGGGCAAACGAGCGAATGAAGGAGGATGGAATGGGTGGGAGAATGAACGAACGACACCAGGCTCCCAGTACACACTCAGCACCCACCTTTTTCCAGTCCCGCCCTTCTCTCTCATCTCACCTCCTGCCCGTAGCATCACCAAAGATCTTAGGGGGTTTACCTCCTGGTCTCTGCTGCTGCTCGCTGAGCCTGGCTCCCCATCTTCCCTCCAAGGAGTCCTTCCTTGTCCTTAGAGACTCCATTGAAACATCTCCCCAACAGGGAATTTTCTCCTGCAACCCTTCCCTGAGAAGGGTCTGTTCCTCTGTCCTTCTGCCCCACCTCGCCCCTCGCTGATGCTCTGTTTAGGGCTGGCTGGGTCTCCCCCTGCTGATGCCCGGGTTAGCCCAGTCTCCTGCTGCTCTGCTGGGGTCCTCAGGGAAGGGCCTCCACCCCGTGGTCACAGTGGGGCCTGGCTGGTTGCTGACTGCACTGACCTCCAATCGCCAGTCT | GCTGGGCAGGGGAGTGAGAGGAGGCAGTGAGGGTGTTCCAGGAGGAAGGCCCCGCATGTGCAGAGGCTGGGCAGCCGGGACCAGGCAGGTGTGCAGGACAGGGCCCCACAGAACTTCCTGCACCATGCCTGGGGTGCTGGACTTGATCTCAGGGCAGCAACAGGAGGGTTTGGGGCCATGGCTGACAGAACCATCAGCATCTCTGAAAGGTCCGCTGTTCTGTGAGGTGGGGTTAGAGCATGGGGCAGAGATGGGAGGCTGGGGAGCAGGACTGGCCTGTGGCCTCGGCCCAGCACAGAGGTGCCTAGGCCTGAGCTGGGCGTGGCTGGGAGTGGGGGGTGCAGAGTCTGTGCCGAGGGAGATGCCAACGTCCGCCGTCCGCTCCTCCTTTCCCCCTTACTCTCATTCCACAAGCAGCTGCTCTCAGGTGTGCAGGGCCCTTGGCTGCCTCCGGTTGACATTTCCCCCTGTCTTTTCTGAGAGTCCCTGAAATGATGAGGTGGGGCTGGGGAGGGCCTTCTGTAGAATCTGACTGCGGGGAGTCGTGTTGGAAGCCAATCATTCCCCTGAAAATCTCGGCCGTCCTCAGCAGTCAGGCTCTCTGGGGCTCTAACAAAAGCCAGGAACTGCTGGCACTTTGCATTTCCTCCACAGCCCTGTGGGGGCCACAGGGCCAGATTGGCCGGGGGAGATGACTATAAGCCAGGTGGCTTTTCCTCCTTGACCGTTTGTAAATCTGGATTCCCTCCTAGGAGGGTGGCCCTCTGGGGAGCGCTACTGGTGACTAAGTGCCTACATGCTAAGCTGCGTCAGCCTCCCCGCACCCTAGGAGAGACACTTAATCCCCACCTCGGGGGCAGACGCAGATCTCGCTCATGAAGGAGAGGGGGAGTTCATCCCTCTGAGCTCCGCTCTCCCAGGCAGTGCCATTAGTTAATGACCCTGGTGGCTTCTTCTCAGCTGTTAATTAACATGCCCTGGTGGTTCCCAGGACACCCCAGCTATGGTCCTGTGTGTTTCTTTTTGCAGGACGCCCTGGAGAGGACGATGGGGCGGGCGCACATGGCAAAAGTGATTGAGTTTCTGAAGCTGCAAGTCCAGGAGGAGACCAGGTGCCGGCTGGCTGCCATCTCCCACGGCCTGGAGCTGCTGGCTGGTGAGGGGAAGCTGTCCGGGCGGCAGAAGGAGGAGCTGCTCACGCAGCAGCACAAGGCCTTCTGGCAGGAGGCAGAGCGCTTCAGCCGGGGTGAGCCGTGGGCATGGGTGCCGCCGTCCACAACACTGGCCTTCTGGGTCCCTGGGGCTGTGCAGTGAGAGGGCTGGCAGCCTGGGGCAGTGTGCCCATGATGCCGGGCACAGGCTGCCTTTCTGCTTCTGCCCTAGGGACTGGGTCACTGGGCTGCTCTCTGGGGCTCTCTTCCCTTCTCTGTACAGCAGAGTCCATGAGGGCCACTGCCCAGGGCAGGGGTCACCTGCTGCACTCACTCACCAGGGATTCCGGCTGATTGAGTCCCCACGTCCTGCAGCAAAGCCACCAGGAACTGCAGAGGGACAGAGGAGGGTGAAGGGTCTCACTAGAAATTTACACAAAGTGGTCCCTGTCGCCCAGCGGCAGCTCATGGTCATGCTGGAGTCATGTGGCCCTGCTCAGCGGCAGAGTGGGTGAGGGTGGGCCATGGTCCAGCATGTGGGGCAGGAAGGGGAGCCGTGCATGTGTCCCACACATGCTCCTGCCCCAAGGCTGACCCTGGGGTGGGGGTGGGGCAAGGCTCAAGACGTGGAGGCATCTGGGCTTAGCTGAGGTCACACTACTAGTGGGACCTACAGAAAAACCCAGGTGTGTCACCAGCAGGGCGGGCACCATCTCTGCAGCCGACACCAGCTTCCCCAACCTCCAGACAGGAGAAAGCATGAGGGTCCCCACTGAAATTCTGGCTCACAGAGTCACCTCCTATGCTGTGGCTTTTTTCAATCCCAGAGTTTGTCCAGCGAGGCAAAGACCTGGTCACGGCGTCTCTGGCTCACCAGGTGGAGGGAACGGCAAAACTCAACGCTGGCCCAAGAGGAGGAACAGAGAAGCTTCCTGGCTGAGGCCCAGCCGACTGCTGACCCGGAAAAGTTTCTCGAGGTGACTCACATCCCCAGCCTCTGCACATGTGGGTGAGCCAGTTGTAGCTCTGTTCCCGTGACTGAGCACGGGACGCCGGAGGTATTCATCAGGCATGAGGTTATCTGCCTACTTCCCATGTGTCAGCCGAGTGACCGAATCTCAGTCCCTTAGCCCCTACATCCCTAGGGTCCTAGTGGACTGTAAGCTGGTGATAAGAGTTGTGCTGCCCTCACTGGGCTGCTGAGAAGAGGAGGGGGTAGGATCCGTAGAGAGCTTGGCAGAGTGCAGACGCATGGCAGGAGCACACAGATGGTGGCAATGGCGTGAAGGGAGCAATGTGTGGCCCAGAGGGGACAAGCATGTCCCGGAGAGTAAGGCAGGCTCACACACCCAGGGACAGGGCCCTTGTGGGTCGGCTGCAAGTCCAGGAGAAGGAAGGGAGTTCCCAGCCTTGCATGTGGGGTTGAGTGGTCAGGGCCAGGAGGTGGCCAAGGTCAGAGGTACCCTTGGTCTTGCCTGAGAAGGGGACAAGAAGACCTGAAGGAGGACAAAAAGCAAGATGTCACCCTCCAAGGAAAAGGAGTCAGCTGGCCCCAGTGCAGGCTCTAAGGACCTGGACTCGCCAGTTCTCAGAGAGACCACCGAGCTCTGGTTTCGCTCTGCTTGCTTTCACTAGTAATGGGCAGTGGGGCTGGGAGAGGACCAGCTTGTCCGTAACCGTCTTGCAGGCTGGTTAAGCATTGGGCGCTGAGGCCAGCCACACTTGGGTTTGGGTGCTGACTCTGCCACTAAATAGCTGGGTGACCTTGGGCATGTTGCTTACCCTCTGGCCCTCAGCTTCCACATCTGTGAAATGGGCATAATGGCACCTATATCACAGCATTGTTAGGATTCAGTGAGACCAAGGAAGGGGCAGCCCCAGCCTCACTGTTTGCCTGGGTCCGCCTGCCCTCCGTCAACACTTGGTACAGCACATCTCAGTTCTGCCAAGGGGTGGGTGGCACCATGTCTGGGTCCAGGCTCAGCCCAGAATAGAGGCCCAGGGGCTCTCCCTGGGGGCCAAGCTGGTGGTGGTGGCACCACTGCAGTGAGAAGCCAATGGAGGGGTCCCCCGAGAACAGAGGACAGGCCTCTAGGTCCCTGGTCCAGCTGCCTCCCTCACCCAGGGGGCCTCTTCCAGGCCCATACTTGGAGCTTCTGCATTTGCCACAAAGGGGTAGGGTAGGTTTTTCTATCTTTGAGACCCATTTGAAATAAGAGGAAGATAAGGCTATTCAGCTCCTCGTTATTTGGATATTTCTGGGCCCCTGTCCTTGATGTCACAGAGCCCAGTGTGAGTCCAGAGTGTGGAGACAGTGCCTGGGTGACCTTGGTGTCCCAGGGCCTCGGTACAGTCCTCGGAACGCCTCAGCGCTGGCGTTCAGGACACGTGGGACGCAGGCAGGGAAGGGTGAATGAGCGCATGCGTGCCTGAATGAACCAGGACATGGACAAATGGGCAAACGAGCGAATGAAGGAGGATGGAATGGGTGGGAGAATGAACGAACGACACCAGGCTCCCAGTACACACTCAGCACCCACCTTTTTCCAGTCCCGCCCTTCTCTCTCATCTCACCTCCTGCCCGTAGCATCACCAAAGATCTTAGGGGGTTTACCTCCTGGTCTCTGCTGCTGCTCGCTGAGCCTGGCTCCCCATCTTCCCTCCAAGGAGTCCTTCCTTGTCCTTAGAGACTCCATTGAAACATCTCCCCAACAGGGAATTTTCTCCTGCAACCCTTCCCTGAGAAGGGTCTGTTCCTCTGTCCTTCTGCCCCACCTCGCCCCTCGCTGATGCTCTGTTTAGGGCTGGCTGGGTCTCCCCCTGCTGATGCCCGGGTTAGCCCAGTCTCCTGCTGCTCTGCTGGGGTCCTCAGGGAAGGGCCTCCACCCCGTGGTCACAGTGGGGCCTGGCTGGTTGCTGACTGCACTGACCTCCAATCGCCAGTC | pathogenic | 79,829 |
Is the genetic mutation found on chromosome 4 at position 5753884, within the gene EVC (EvC ciliary complex subunit 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | AGGGTGTTCCAGGAGGAAGGCCCCGCATGTGCAGAGGCTGGGCAGCCGGGACCAGGCAGGTGTGCAGGACAGGGCCCCACAGAACTTCCTGCACCATGCCTGGGGTGCTGGACTTGATCTCAGGGCAGCAACAGGAGGGTTTGGGGCCATGGCTGACAGAACCATCAGCATCTCTGAAAGGTCCGCTGTTCTGTGAGGTGGGGTTAGAGCATGGGGCAGAGATGGGAGGCTGGGGAGCAGGACTGGCCTGTGGCCTCGGCCCAGCACAGAGGTGCCTAGGCCTGAGCTGGGCGTGGCTGGGAGTGGGGGGTGCAGAGTCTGTGCCGAGGGAGATGCCAACGTCCGCCGTCCGCTCCTCCTTTCCCCCTTACTCTCATTCCACAAGCAGCTGCTCTCAGGTGTGCAGGGCCCTTGGCTGCCTCCGGTTGACATTTCCCCCTGTCTTTTCTGAGAGTCCCTGAAATGATGAGGTGGGGCTGGGGAGGGCCTTCTGTAGAATCTGACTGCGGGGAGTCGTGTTGGAAGCCAATCATTCCCCTGAAAATCTCGGCCGTCCTCAGCAGTCAGGCTCTCTGGGGCTCTAACAAAAGCCAGGAACTGCTGGCACTTTGCATTTCCTCCACAGCCCTGTGGGGGCCACAGGGCCAGATTGGCCGGGGGAGATGACTATAAGCCAGGTGGCTTTTCCTCCTTGACCGTTTGTAAATCTGGATTCCCTCCTAGGAGGGTGGCCCTCTGGGGAGCGCTACTGGTGACTAAGTGCCTACATGCTAAGCTGCGTCAGCCTCCCCGCACCCTAGGAGAGACACTTAATCCCCACCTCGGGGGCAGACGCAGATCTCGCTCATGAAGGAGAGGGGGAGTTCATCCCTCTGAGCTCCGCTCTCCCAGGCAGTGCCATTAGTTAATGACCCTGGTGGCTTCTTCTCAGCTGTTAATTAACATGCCCTGGTGGTTCCCAGGACACCCCAGCTATGGTCCTGTGTGTTTCTTTTTGCAGGACGCCCTGGAGAGGACGATGGGGCGGGCGCACATGGCAAAAGTGATTGAGTTTCTGAAGCTGCAAGTCCAGGAGGAGACCAGGTGCCGGCTGGCTGCCATCTCCCACGGCCTGGAGCTGCTGGCTGGTGAGGGGAAGCTGTCCGGGCGGCAGAAGGAGGAGCTGCTCACGCAGCAGCACAAGGCCTTCTGGCAGGAGGCAGAGCGCTTCAGCCGGGGTGAGCCGTGGGCATGGGTGCCGCCGTCCACAACACTGGCCTTCTGGGTCCCTGGGGCTGTGCAGTGAGAGGGCTGGCAGCCTGGGGCAGTGTGCCCATGATGCCGGGCACAGGCTGCCTTTCTGCTTCTGCCCTAGGGACTGGGTCACTGGGCTGCTCTCTGGGGCTCTCTTCCCTTCTCTGTACAGCAGAGTCCATGAGGGCCACTGCCCAGGGCAGGGGTCACCTGCTGCACTCACTCACCAGGGATTCCGGCTGATTGAGTCCCCACGTCCTGCAGCAAAGCCACCAGGAACTGCAGAGGGACAGAGGAGGGTGAAGGGTCTCACTAGAAATTTACACAAAGTGGTCCCTGTCGCCCAGCGGCAGCTCATGGTCATGCTGGAGTCATGTGGCCCTGCTCAGCGGCAGAGTGGGTGAGGGTGGGCCATGGTCCAGCATGTGGGGCAGGAAGGGGAGCCGTGCATGTGTCCCACACATGCTCCTGCCCCAAGGCTGACCCTGGGGTGGGGGTGGGGCAAGGCTCAAGACGTGGAGGCATCTGGGCTTAGCTGAGGTCACACTACTAGTGGGACCTACAGAAAAACCCAGGTGTGTCACCAGCAGGGCGGGCACCATCTCTGCAGCCGACACCAGCTTCCCCAACCTCCAGACAGGAGAAAGCATGAGGGTCCCCACTGAAATTCTGGCTCACAGAGTCACCTCCTATGCTGTGGCTTTTTTCAATCCCAGAGTTTGTCCAGCGAGGCAAAGACCTGGTCACGGCGTCTCTGGCTCACCAGGTGGAGGGAACGGCAAAACTCACGCTGGCCCAAGAGGAGGAACAGAGAAGCTTCCTGGCTGAGGCCCAGCCGACTGCTGACCCGGAAAAGTTTCTCGAGGTGACTCACATCCCCAGCCTCTGCACATGTGGGTGAGCCAGTTGTAGCTCTGTTCCCGTGACTGAGCACGGGACGCCGGAGGTATTCATCAGGCATGAGGTTATCTGCCTACTTCCCATGTGTCAGCCGAGTGACCGAATCTCAGTCCCTTAGCCCCTACATCCCTAGGGTCCTAGTGGACTGTAAGCTGGTGATAAGAGTTGTGCTGCCCTCACTGGGCTGCTGAGAAGAGGAGGGGGTAGGATCCGTAGAGAGCTTGGCAGAGTGCAGACGCATGGCAGGAGCACACAGATGGTGGCAATGGCGTGAAGGGAGCAATGTGTGGCCCAGAGGGGACAAGCATGTCCCGGAGAGTAAGGCAGGCTCACACACCCAGGGACAGGGCCCTTGTGGGTCGGCTGCAAGTCCAGGAGAAGGAAGGGAGTTCCCAGCCTTGCATGTGGGGTTGAGTGGTCAGGGCCAGGAGGTGGCCAAGGTCAGAGGTACCCTTGGTCTTGCCTGAGAAGGGGACAAGAAGACCTGAAGGAGGACAAAAAGCAAGATGTCACCCTCCAAGGAAAAGGAGTCAGCTGGCCCCAGTGCAGGCTCTAAGGACCTGGACTCGCCAGTTCTCAGAGAGACCACCGAGCTCTGGTTTCGCTCTGCTTGCTTTCACTAGTAATGGGCAGTGGGGCTGGGAGAGGACCAGCTTGTCCGTAACCGTCTTGCAGGCTGGTTAAGCATTGGGCGCTGAGGCCAGCCACACTTGGGTTTGGGTGCTGACTCTGCCACTAAATAGCTGGGTGACCTTGGGCATGTTGCTTACCCTCTGGCCCTCAGCTTCCACATCTGTGAAATGGGCATAATGGCACCTATATCACAGCATTGTTAGGATTCAGTGAGACCAAGGAAGGGGCAGCCCCAGCCTCACTGTTTGCCTGGGTCCGCCTGCCCTCCGTCAACACTTGGTACAGCACATCTCAGTTCTGCCAAGGGGTGGGTGGCACCATGTCTGGGTCCAGGCTCAGCCCAGAATAGAGGCCCAGGGGCTCTCCCTGGGGGCCAAGCTGGTGGTGGTGGCACCACTGCAGTGAGAAGCCAATGGAGGGGTCCCCCGAGAACAGAGGACAGGCCTCTAGGTCCCTGGTCCAGCTGCCTCCCTCACCCAGGGGGCCTCTTCCAGGCCCATACTTGGAGCTTCTGCATTTGCCACAAAGGGGTAGGGTAGGTTTTTCTATCTTTGAGACCCATTTGAAATAAGAGGAAGATAAGGCTATTCAGCTCCTCGTTATTTGGATATTTCTGGGCCCCTGTCCTTGATGTCACAGAGCCCAGTGTGAGTCCAGAGTGTGGAGACAGTGCCTGGGTGACCTTGGTGTCCCAGGGCCTCGGTACAGTCCTCGGAACGCCTCAGCGCTGGCGTTCAGGACACGTGGGACGCAGGCAGGGAAGGGTGAATGAGCGCATGCGTGCCTGAATGAACCAGGACATGGACAAATGGGCAAACGAGCGAATGAAGGAGGATGGAATGGGTGGGAGAATGAACGAACGACACCAGGCTCCCAGTACACACTCAGCACCCACCTTTTTCCAGTCCCGCCCTTCTCTCTCATCTCACCTCCTGCCCGTAGCATCACCAAAGATCTTAGGGGGTTTACCTCCTGGTCTCTGCTGCTGCTCGCTGAGCCTGGCTCCCCATCTTCCCTCCAAGGAGTCCTTCCTTGTCCTTAGAGACTCCATTGAAACATCTCCCCAACAGGGAATTTTCTCCTGCAACCCTTCCCTGAGAAGGGTCTGTTCCTCTGTCCTTCTGCCCCACCTCGCCCCTCGCTGATGCTCTGTTTAGGGCTGGCTGGGTCTCCCCCTGCTGATGCCCGGGTTAGCCCAGTCTCCTGCTGCTCTGCTGGGGTCCTCAGGGAAGGGCCTCCACCCCGTGGTCACAGTGGGGCCTGGCTGGTTGCTGACTGCACTGACCTCCAATCGCCAGTCTGTGTCACCCCTGCTGGGTTCCCATCAGTG | AGGGTGTTCCAGGAGGAAGGCCCCGCATGTGCAGAGGCTGGGCAGCCGGGACCAGGCAGGTGTGCAGGACAGGGCCCCACAGAACTTCCTGCACCATGCCTGGGGTGCTGGACTTGATCTCAGGGCAGCAACAGGAGGGTTTGGGGCCATGGCTGACAGAACCATCAGCATCTCTGAAAGGTCCGCTGTTCTGTGAGGTGGGGTTAGAGCATGGGGCAGAGATGGGAGGCTGGGGAGCAGGACTGGCCTGTGGCCTCGGCCCAGCACAGAGGTGCCTAGGCCTGAGCTGGGCGTGGCTGGGAGTGGGGGGTGCAGAGTCTGTGCCGAGGGAGATGCCAACGTCCGCCGTCCGCTCCTCCTTTCCCCCTTACTCTCATTCCACAAGCAGCTGCTCTCAGGTGTGCAGGGCCCTTGGCTGCCTCCGGTTGACATTTCCCCCTGTCTTTTCTGAGAGTCCCTGAAATGATGAGGTGGGGCTGGGGAGGGCCTTCTGTAGAATCTGACTGCGGGGAGTCGTGTTGGAAGCCAATCATTCCCCTGAAAATCTCGGCCGTCCTCAGCAGTCAGGCTCTCTGGGGCTCTAACAAAAGCCAGGAACTGCTGGCACTTTGCATTTCCTCCACAGCCCTGTGGGGGCCACAGGGCCAGATTGGCCGGGGGAGATGACTATAAGCCAGGTGGCTTTTCCTCCTTGACCGTTTGTAAATCTGGATTCCCTCCTAGGAGGGTGGCCCTCTGGGGAGCGCTACTGGTGACTAAGTGCCTACATGCTAAGCTGCGTCAGCCTCCCCGCACCCTAGGAGAGACACTTAATCCCCACCTCGGGGGCAGACGCAGATCTCGCTCATGAAGGAGAGGGGGAGTTCATCCCTCTGAGCTCCGCTCTCCCAGGCAGTGCCATTAGTTAATGACCCTGGTGGCTTCTTCTCAGCTGTTAATTAACATGCCCTGGTGGTTCCCAGGACACCCCAGCTATGGTCCTGTGTGTTTCTTTTTGCAGGACGCCCTGGAGAGGACGATGGGGCGGGCGCACATGGCAAAAGTGATTGAGTTTCTGAAGCTGCAAGTCCAGGAGGAGACCAGGTGCCGGCTGGCTGCCATCTCCCACGGCCTGGAGCTGCTGGCTGGTGAGGGGAAGCTGTCCGGGCGGCAGAAGGAGGAGCTGCTCACGCAGCAGCACAAGGCCTTCTGGCAGGAGGCAGAGCGCTTCAGCCGGGGTGAGCCGTGGGCATGGGTGCCGCCGTCCACAACACTGGCCTTCTGGGTCCCTGGGGCTGTGCAGTGAGAGGGCTGGCAGCCTGGGGCAGTGTGCCCATGATGCCGGGCACAGGCTGCCTTTCTGCTTCTGCCCTAGGGACTGGGTCACTGGGCTGCTCTCTGGGGCTCTCTTCCCTTCTCTGTACAGCAGAGTCCATGAGGGCCACTGCCCAGGGCAGGGGTCACCTGCTGCACTCACTCACCAGGGATTCCGGCTGATTGAGTCCCCACGTCCTGCAGCAAAGCCACCAGGAACTGCAGAGGGACAGAGGAGGGTGAAGGGTCTCACTAGAAATTTACACAAAGTGGTCCCTGTCGCCCAGCGGCAGCTCATGGTCATGCTGGAGTCATGTGGCCCTGCTCAGCGGCAGAGTGGGTGAGGGTGGGCCATGGTCCAGCATGTGGGGCAGGAAGGGGAGCCGTGCATGTGTCCCACACATGCTCCTGCCCCAAGGCTGACCCTGGGGTGGGGGTGGGGCAAGGCTCAAGACGTGGAGGCATCTGGGCTTAGCTGAGGTCACACTACTAGTGGGACCTACAGAAAAACCCAGGTGTGTCACCAGCAGGGCGGGCACCATCTCTGCAGCCGACACCAGCTTCCCCAACCTCCAGACAGGAGAAAGCATGAGGGTCCCCACTGAAATTCTGGCTCACAGAGTCACCTCCTATGCTGTGGCTTTTTTCAATCCCAGAGTTTGTCCAGCGAGGCAAAGACCTGGTCACGGCGTCTCTGGCTCACCAGGTGGAGGGAACGGCAAAACTCACGCTGGCCCAAGAGGAGGAACAGAGAAGTTCCTGGCTGAGGCCCAGCCGACTGCTGACCCGGAAAAGTTTCTCGAGGTGACTCACATCCCCAGCCTCTGCACATGTGGGTGAGCCAGTTGTAGCTCTGTTCCCGTGACTGAGCACGGGACGCCGGAGGTATTCATCAGGCATGAGGTTATCTGCCTACTTCCCATGTGTCAGCCGAGTGACCGAATCTCAGTCCCTTAGCCCCTACATCCCTAGGGTCCTAGTGGACTGTAAGCTGGTGATAAGAGTTGTGCTGCCCTCACTGGGCTGCTGAGAAGAGGAGGGGGTAGGATCCGTAGAGAGCTTGGCAGAGTGCAGACGCATGGCAGGAGCACACAGATGGTGGCAATGGCGTGAAGGGAGCAATGTGTGGCCCAGAGGGGACAAGCATGTCCCGGAGAGTAAGGCAGGCTCACACACCCAGGGACAGGGCCCTTGTGGGTCGGCTGCAAGTCCAGGAGAAGGAAGGGAGTTCCCAGCCTTGCATGTGGGGTTGAGTGGTCAGGGCCAGGAGGTGGCCAAGGTCAGAGGTACCCTTGGTCTTGCCTGAGAAGGGGACAAGAAGACCTGAAGGAGGACAAAAAGCAAGATGTCACCCTCCAAGGAAAAGGAGTCAGCTGGCCCCAGTGCAGGCTCTAAGGACCTGGACTCGCCAGTTCTCAGAGAGACCACCGAGCTCTGGTTTCGCTCTGCTTGCTTTCACTAGTAATGGGCAGTGGGGCTGGGAGAGGACCAGCTTGTCCGTAACCGTCTTGCAGGCTGGTTAAGCATTGGGCGCTGAGGCCAGCCACACTTGGGTTTGGGTGCTGACTCTGCCACTAAATAGCTGGGTGACCTTGGGCATGTTGCTTACCCTCTGGCCCTCAGCTTCCACATCTGTGAAATGGGCATAATGGCACCTATATCACAGCATTGTTAGGATTCAGTGAGACCAAGGAAGGGGCAGCCCCAGCCTCACTGTTTGCCTGGGTCCGCCTGCCCTCCGTCAACACTTGGTACAGCACATCTCAGTTCTGCCAAGGGGTGGGTGGCACCATGTCTGGGTCCAGGCTCAGCCCAGAATAGAGGCCCAGGGGCTCTCCCTGGGGGCCAAGCTGGTGGTGGTGGCACCACTGCAGTGAGAAGCCAATGGAGGGGTCCCCCGAGAACAGAGGACAGGCCTCTAGGTCCCTGGTCCAGCTGCCTCCCTCACCCAGGGGGCCTCTTCCAGGCCCATACTTGGAGCTTCTGCATTTGCCACAAAGGGGTAGGGTAGGTTTTTCTATCTTTGAGACCCATTTGAAATAAGAGGAAGATAAGGCTATTCAGCTCCTCGTTATTTGGATATTTCTGGGCCCCTGTCCTTGATGTCACAGAGCCCAGTGTGAGTCCAGAGTGTGGAGACAGTGCCTGGGTGACCTTGGTGTCCCAGGGCCTCGGTACAGTCCTCGGAACGCCTCAGCGCTGGCGTTCAGGACACGTGGGACGCAGGCAGGGAAGGGTGAATGAGCGCATGCGTGCCTGAATGAACCAGGACATGGACAAATGGGCAAACGAGCGAATGAAGGAGGATGGAATGGGTGGGAGAATGAACGAACGACACCAGGCTCCCAGTACACACTCAGCACCCACCTTTTTCCAGTCCCGCCCTTCTCTCTCATCTCACCTCCTGCCCGTAGCATCACCAAAGATCTTAGGGGGTTTACCTCCTGGTCTCTGCTGCTGCTCGCTGAGCCTGGCTCCCCATCTTCCCTCCAAGGAGTCCTTCCTTGTCCTTAGAGACTCCATTGAAACATCTCCCCAACAGGGAATTTTCTCCTGCAACCCTTCCCTGAGAAGGGTCTGTTCCTCTGTCCTTCTGCCCCACCTCGCCCCTCGCTGATGCTCTGTTTAGGGCTGGCTGGGTCTCCCCCTGCTGATGCCCGGGTTAGCCCAGTCTCCTGCTGCTCTGCTGGGGTCCTCAGGGAAGGGCCTCCACCCCGTGGTCACAGTGGGGCCTGGCTGGTTGCTGACTGCACTGACCTCCAATCGCCAGTCTGTGTCACCCCTGCTGGGTTCCCATCAGTGN | pathogenic | 79,830 |
Mutation at chromosome 4, position 5783634, within EVC (EvC ciliary complex subunit 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | CAGCACTTTGGGAGGTCAAGGCAGGCAGATCATTTGAGCTCAGGAGTTCGAGAGCAGCTTGAGCAACACAGCAAAACCTCATCTCCACAAAAAAATATAAAAAATTAGCCAGGCATAGTGGCATACACTCTATAGTCCCAGCTATTTGGGAGGCTGAGGTGAGAGGGTCACCTGAGTCCAGGAAGTCGAGGGTGTGATCACGCCCCTGAACTCCAGCCTGGGCGACAGAGGGAGATCCTGTCTCAAAACAAAACAAAAAGCATCTGCACAATGAAACATGCAATGAGATGCCATTTATGGGTGAATGAACACAAACACCAAAAGCCACCTTTATGAACATGATATGCAGGGAAAGTAGAGACCTGTAAACTGGAGAGAGGGTCACTGCATTCATGGGGATGGCTGTCTGAGGCTGAGAGGGAGGGAAAAGGATTGCAGGGAGCCATAAAGAATTCCAACTTGACCTGTAAAGTTCCATGTTTTTTGTTTTTGTTTGTTTTTATATTTTTTGAGATGGAGTCTCTCTCTGTCACCCAAGTTGGAGTGCAGTGACACAATCTCAGCCCACTGCAACCTGGACCAGCTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGACGTGCGCCACCACGCCCGGCTAATTTTTATATTTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCCAACTCCCAACCTCAGGTGATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCATGCGCAGCTATCTGTAAGGTTCCATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACAGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGCTTCCATGTTTTAAATGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGTGAGCGGTGGATTCACAGGTGTTTAATATTATTATTATGGTGTGGGTTTGTTTTTCATGATTTTTAGAAAGATATTGGGGTGGGGGAGCGGGGATGAAGGCAACAGAATGATAAGACAAGAGGCAGGACAGCCGGAGCCATCTCTGAGCTGCCTGGAAGCCCTGCTGGGTGATCTTGAGTGTGAGGGGAACAGAGGTCTTCCACGTTATTTGAGGAGGACTCATGATAAGACGTGAAGTTTATGAAAATAACTCACTTAAGCATGGAGGGTGGAAGGGAAGACAAAGAGACCAGTGGGGATTGTGAAAATAATCTAGATGGTGACCCAGGGGAGGCCCTAATGATGGTTTTGAGGAGATGCCAGAGTTAGAGAGCTCACTGTGGGAGGAGAGCAGGTGTGAAGCTTGGCAAGGAGAGCAGATGTGAAGGTTGGCGAGGAGAGCAGGTGTGAAGCTTGGCTGAGTGGGGTTGAGAGGGCTCTAAGGTGACGGGTGCATCCCAAGGCTGTGCGTGTGTGCGTGTGTGTGTGTGTAGGAGTGTGTCTATGTGTGCAAGTATGTATGAGTCTATGTGTGATTCATGTGTGTATGTGTGCACTTGTCTATGCATGGATGTATGTAGGAGTGTGTGCATGGATCAAATGTGAACGAAAGTGTGCATGTGTTCCTGTGTGTGTGCATGTGTGTATATGTGCCTGTGTCTGCATGCATATGTGTATGAGTACATGTGCATGTGTCTGTGTGTACAAGTGTGTGTGCATGTGGGGGAGTTACTTGTCTGTGTGTACAAGTGTGTGTGCATGTGGGGGAGTTACTTGTATGTGTGTCTATGCATGCTTGCATACGTGTGACTTGAGAGTTCCTGTCTGTGGATCTCCTTGTGTCTTGTGGGAGGCTTGTGGAGGAGAGGCAGAGAGCAGCTCAGGCCCCACACAGGGTCCTGCCGTGACCTGTAACCCCATCTGTGGTTCTCCGCTCCAGGAGCTGTACTTCAGCACCGTGGACACTTTCCAGAAGTTCGTGGATGCCCTGTTCCTTCAGACGCTCCCTGGCATGACTGGCCTCCCCCCGGAAGAGTGTGACTACTTGAGGCAGGAAGTCCAGGAGAACGCTGCCTGGCAGCTGGGGAAGTCAAATCGCTTCCGGAGGCAGCAGTGGAAACTCTTCCAGGAGCTCCTAGAGCAAGACCAGCAGGTGCGGGCATTTGGGAACCCAGGGGCTGGGGTCTGCATTTTAGAAACACACGAAGAAGCGTGAGAGATCTCACGTCCTGAACACCCACTAGTGCCTATTGTAGGTGCTCTACGGAGATGACTGTTGCCTCCCTTTCACAATGGCCCACCACAGGGGTGGGATGAGAGAGCAGAGCCCTTATCTCCCTCAACAGGAAGTCGGAGATCATACCTTAAGTTGATCGATTAAGAAGAGCAGCAAAGCTTGTTCTTTAGAACGAGAGAAATAAGTAGCCAACCAAATGGCAGGAAGGAAAGGGGTTCACAGGGAGTGGGCTCAGTGGGGGTGGGAGAAGCGGCACACAGGACTCCTGTTTTTCAGTGAGTCTGATTATTAAGACCATGGATTTATGCTGAGACAGAATCGTGACCCCTCAAAGATATCTATGCTGTGTTCCCTTACAGGGCAAAAGGCAGGTGCGGTTGAGTGAAGGACTTTGAGGTAGGGATGTTTGTGGGTTATCCTGGTGAGCCCAGCGTAATTGCAAGGGTTCTTACAGGAGACAGGCAGAAGGGTGGGAGTCAGAGAAGGAGGGTTGATGTTCTAAGCAGAGGTCGGAATGGTGTGGCTGTGAGTCTAGGAACTCTGGCTGGTTCTAGAAGCTGGAAAGGTCAAGGAGCACATTCTCCCCTATAGCCTCTAGAAAAGAGCACAGCCCTGCTGACACCTTGATTTTAACCCATTAAGACCCATTTCAGCCTTCTGGCCTCAAAACTGTAAGATAGCAGATTTGTGTTGTTTTCAGCTACAGCTTGTAGCAATGTGGAACAGCAGCAATAGGAAACTAATACAATACACATTGATTTTTTTTTTTTTTTTTTTTTTGGAATGGAATCTTGCTCTGTCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCATCATGGTGGCCAAGCTGATCTCAAACTCCTGAACTCAAGTGATCTGCCCGCCTTAGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCAGATTGATTTTATCTTTAAAAAATTAAAAACTGTTAAATTAAAGAAGGCATTTCCAAATTCAACATCCACCAAGACAGCCCACCAGTCCTTTCTCCCCTGCCTTCGGCCCTCTAGAGGCTGTGAAACTAACATCCTCAATATCCATATCCCTTGCAACTAGCCATGGCTGAGTGACACTGCTCTGGCCTTTGAAACAAAGCAAAGGGCTTCTGTTTCCTGATACCAGAGCCGGTTTTGCTTGGAGCAGCCCCCTTCTTCAGTGTCCCATTCTTCCTTCTTAGAACGCATGGGAGGCCTGGAGGTGCATCAGCCTTTCTCTGCCCTAGAGGCAGCCTGCGTGAGCCTGGTGGGCTCCAGATGGTGGAGCAGTCTCAGACAGCCCTGAGCCCCTGGCAGTGCTGTTAAGCCATTACCGCAGCCCTGAACCGCCTGCCCCTACATGCTTATTGTCAGAAACAAGCCCTGTTTCTTTAAGTTGGGTTTGCGATTAGTTACAAAAGACCAGTGTGACTGATGCATCCATCTGAAAGAGGTTTCCTAAAACAATTCCTTGGGGCAATAGAAAGTACAAAGTAGATAGAGGAGAGCGTTATGCAAACACATGACCACTCACAGCTGTGGGGACAGGCACAGGGCCTAGTTGCCTGCCCGAATGAATTCTTAGACCTCCTTCTAGTTCATTCAGTCCTCTGTCAGTGGCATCCGGTTGCCCTGTCGTAGGTGACTTGTCTGTCTCCTGCATTTGGCTATGAGTTCCTTGAGGACGGCAACC | CAGCACTTTGGGAGGTCAAGGCAGGCAGATCATTTGAGCTCAGGAGTTCGAGAGCAGCTTGAGCAACACAGCAAAACCTCATCTCCACAAAAAAATATAAAAAATTAGCCAGGCATAGTGGCATACACTCTATAGTCCCAGCTATTTGGGAGGCTGAGGTGAGAGGGTCACCTGAGTCCAGGAAGTCGAGGGTGTGATCACGCCCCTGAACTCCAGCCTGGGCGACAGAGGGAGATCCTGTCTCAAAACAAAACAAAAAGCATCTGCACAATGAAACATGCAATGAGATGCCATTTATGGGTGAATGAACACAAACACCAAAAGCCACCTTTATGAACATGATATGCAGGGAAAGTAGAGACCTGTAAACTGGAGAGAGGGTCACTGCATTCATGGGGATGGCTGTCTGAGGCTGAGAGGGAGGGAAAAGGATTGCAGGGAGCCATAAAGAATTCCAACTTGACCTGTAAAGTTCCATGTTTTTTGTTTTTGTTTGTTTTTATATTTTTTGAGATGGAGTCTCTCTCTGTCACCCAAGTTGGAGTGCAGTGACACAATCTCAGCCCACTGCAACCTGGACCAGCTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGACGTGCGCCACCACGCCCGGCTAATTTTTATATTTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCCAACTCCCAACCTCAGGTGATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCATGCGCAGCTATCTGTAAGGTTCCATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACAGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGCTTCCATGTTTTAAATGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGTGAGCGGTGGATTCACAGGTGTTTAATATTATTATTATGGTGTGGGTTTGTTTTTCATGATTTTTAGAAAGATATTGGGGTGGGGGAGCGGGGATGAAGGCAACAGAATGATAAGACAAGAGGCAGGACAGCCGGAGCCATCTCTGAGCTGCCTGGAAGCCCTGCTGGGTGATCTTGAGTGTGAGGGGAACAGAGGTCTTCCACGTTATTTGAGGAGGACTCATGATAAGACGTGAAGTTTATGAAAATAACTCACTTAAGCATGGAGGGTGGAAGGGAAGACAAAGAGACCAGTGGGGATTGTGAAAATAATCTAGATGGTGACCCAGGGGAGGCCCTAATGATGGTTTTGAGGAGATGCCAGAGTTAGAGAGCTCACTGTGGGAGGAGAGCAGGTGTGAAGCTTGGCAAGGAGAGCAGATGTGAAGGTTGGCGAGGAGAGCAGGTGTGAAGCTTGGCTGAGTGGGGTTGAGAGGGCTCTAAGGTGACGGGTGCATCCCAAGGCTGTGCGTGTGTGCGTGTGTGTGTGTGTAGGAGTGTGTCTATGTGTGCAAGTATGTATGAGTCTATGTGTGATTCATGTGTGTATGTGTGCACTTGTCTATGCATGGATGTATGTAGGAGTGTGTGCATGGATCAAATGTGAACGAAAGTGTGCATGTGTTCCTGTGTGTGTGCATGTGTGTATATGTGCCTGTGTCTGCATGCATATGTGTATGAGTACATGTGCATGTGTCTGTGTGTACAAGTGTGTGTGCATGTGGGGGAGTTACTTGTCTGTGTGTACAAGTGTGTGTGCATGTGGGGGAGTTACTTGTATGTGTGTCTATGCATGCTTGCATACGTGTGACTTGAGAGTTCCTGTCTGTGGATCTCCTTGTGTCTTGTGGGAGGCTTGTGGAGGAGAGGCAGAGAGCAGCTCAGGCCCCACACAGGGTCCTGCCGTGACCTGTAACCCCATCTGTGGTTCTCCGCTCCAGGAGCTGTACTTCAGCACCGTGGACACTTTCCAGAAGTTCGTGGATGCCCTGTTCCTTCAGACGCTCCCTGGCATGACTGGCCTCCCCCCCGGAAGAGTGTGACTACTTGAGGCAGGAAGTCCAGGAGAACGCTGCCTGGCAGCTGGGGAAGTCAAATCGCTTCCGGAGGCAGCAGTGGAAACTCTTCCAGGAGCTCCTAGAGCAAGACCAGCAGGTGCGGGCATTTGGGAACCCAGGGGCTGGGGTCTGCATTTTAGAAACACACGAAGAAGCGTGAGAGATCTCACGTCCTGAACACCCACTAGTGCCTATTGTAGGTGCTCTACGGAGATGACTGTTGCCTCCCTTTCACAATGGCCCACCACAGGGGTGGGATGAGAGAGCAGAGCCCTTATCTCCCTCAACAGGAAGTCGGAGATCATACCTTAAGTTGATCGATTAAGAAGAGCAGCAAAGCTTGTTCTTTAGAACGAGAGAAATAAGTAGCCAACCAAATGGCAGGAAGGAAAGGGGTTCACAGGGAGTGGGCTCAGTGGGGGTGGGAGAAGCGGCACACAGGACTCCTGTTTTTCAGTGAGTCTGATTATTAAGACCATGGATTTATGCTGAGACAGAATCGTGACCCCTCAAAGATATCTATGCTGTGTTCCCTTACAGGGCAAAAGGCAGGTGCGGTTGAGTGAAGGACTTTGAGGTAGGGATGTTTGTGGGTTATCCTGGTGAGCCCAGCGTAATTGCAAGGGTTCTTACAGGAGACAGGCAGAAGGGTGGGAGTCAGAGAAGGAGGGTTGATGTTCTAAGCAGAGGTCGGAATGGTGTGGCTGTGAGTCTAGGAACTCTGGCTGGTTCTAGAAGCTGGAAAGGTCAAGGAGCACATTCTCCCCTATAGCCTCTAGAAAAGAGCACAGCCCTGCTGACACCTTGATTTTAACCCATTAAGACCCATTTCAGCCTTCTGGCCTCAAAACTGTAAGATAGCAGATTTGTGTTGTTTTCAGCTACAGCTTGTAGCAATGTGGAACAGCAGCAATAGGAAACTAATACAATACACATTGATTTTTTTTTTTTTTTTTTTTTTGGAATGGAATCTTGCTCTGTCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCATCATGGTGGCCAAGCTGATCTCAAACTCCTGAACTCAAGTGATCTGCCCGCCTTAGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCAGATTGATTTTATCTTTAAAAAATTAAAAACTGTTAAATTAAAGAAGGCATTTCCAAATTCAACATCCACCAAGACAGCCCACCAGTCCTTTCTCCCCTGCCTTCGGCCCTCTAGAGGCTGTGAAACTAACATCCTCAATATCCATATCCCTTGCAACTAGCCATGGCTGAGTGACACTGCTCTGGCCTTTGAAACAAAGCAAAGGGCTTCTGTTTCCTGATACCAGAGCCGGTTTTGCTTGGAGCAGCCCCCTTCTTCAGTGTCCCATTCTTCCTTCTTAGAACGCATGGGAGGCCTGGAGGTGCATCAGCCTTTCTCTGCCCTAGAGGCAGCCTGCGTGAGCCTGGTGGGCTCCAGATGGTGGAGCAGTCTCAGACAGCCCTGAGCCCCTGGCAGTGCTGTTAAGCCATTACCGCAGCCCTGAACCGCCTGCCCCTACATGCTTATTGTCAGAAACAAGCCCTGTTTCTTTAAGTTGGGTTTGCGATTAGTTACAAAAGACCAGTGTGACTGATGCATCCATCTGAAAGAGGTTTCCTAAAACAATTCCTTGGGGCAATAGAAAGTACAAAGTAGATAGAGGAGAGCGTTATGCAAACACATGACCACTCACAGCTGTGGGGACAGGCACAGGGCCTAGTTGCCTGCCCGAATGAATTCTTAGACCTCCTTCTAGTTCATTCAGTCCTCTGTCAGTGGCATCCGGTTGCCCTGTCGTAGGTGACTTGTCTGTCTCCTGCATTTGGCTATGAGTTCCTTGAGGACGGCAAC | pathogenic | 79,843 |
Clinical significance of chromosome 4, position 5783681, gene EVC (EvC ciliary complex subunit 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | TCGAGAGCAGCTTGAGCAACACAGCAAAACCTCATCTCCACAAAAAAATATAAAAAATTAGCCAGGCATAGTGGCATACACTCTATAGTCCCAGCTATTTGGGAGGCTGAGGTGAGAGGGTCACCTGAGTCCAGGAAGTCGAGGGTGTGATCACGCCCCTGAACTCCAGCCTGGGCGACAGAGGGAGATCCTGTCTCAAAACAAAACAAAAAGCATCTGCACAATGAAACATGCAATGAGATGCCATTTATGGGTGAATGAACACAAACACCAAAAGCCACCTTTATGAACATGATATGCAGGGAAAGTAGAGACCTGTAAACTGGAGAGAGGGTCACTGCATTCATGGGGATGGCTGTCTGAGGCTGAGAGGGAGGGAAAAGGATTGCAGGGAGCCATAAAGAATTCCAACTTGACCTGTAAAGTTCCATGTTTTTTGTTTTTGTTTGTTTTTATATTTTTTGAGATGGAGTCTCTCTCTGTCACCCAAGTTGGAGTGCAGTGACACAATCTCAGCCCACTGCAACCTGGACCAGCTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGACGTGCGCCACCACGCCCGGCTAATTTTTATATTTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCCAACTCCCAACCTCAGGTGATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCATGCGCAGCTATCTGTAAGGTTCCATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACAGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGCTTCCATGTTTTAAATGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGTGAGCGGTGGATTCACAGGTGTTTAATATTATTATTATGGTGTGGGTTTGTTTTTCATGATTTTTAGAAAGATATTGGGGTGGGGGAGCGGGGATGAAGGCAACAGAATGATAAGACAAGAGGCAGGACAGCCGGAGCCATCTCTGAGCTGCCTGGAAGCCCTGCTGGGTGATCTTGAGTGTGAGGGGAACAGAGGTCTTCCACGTTATTTGAGGAGGACTCATGATAAGACGTGAAGTTTATGAAAATAACTCACTTAAGCATGGAGGGTGGAAGGGAAGACAAAGAGACCAGTGGGGATTGTGAAAATAATCTAGATGGTGACCCAGGGGAGGCCCTAATGATGGTTTTGAGGAGATGCCAGAGTTAGAGAGCTCACTGTGGGAGGAGAGCAGGTGTGAAGCTTGGCAAGGAGAGCAGATGTGAAGGTTGGCGAGGAGAGCAGGTGTGAAGCTTGGCTGAGTGGGGTTGAGAGGGCTCTAAGGTGACGGGTGCATCCCAAGGCTGTGCGTGTGTGCGTGTGTGTGTGTGTAGGAGTGTGTCTATGTGTGCAAGTATGTATGAGTCTATGTGTGATTCATGTGTGTATGTGTGCACTTGTCTATGCATGGATGTATGTAGGAGTGTGTGCATGGATCAAATGTGAACGAAAGTGTGCATGTGTTCCTGTGTGTGTGCATGTGTGTATATGTGCCTGTGTCTGCATGCATATGTGTATGAGTACATGTGCATGTGTCTGTGTGTACAAGTGTGTGTGCATGTGGGGGAGTTACTTGTCTGTGTGTACAAGTGTGTGTGCATGTGGGGGAGTTACTTGTATGTGTGTCTATGCATGCTTGCATACGTGTGACTTGAGAGTTCCTGTCTGTGGATCTCCTTGTGTCTTGTGGGAGGCTTGTGGAGGAGAGGCAGAGAGCAGCTCAGGCCCCACACAGGGTCCTGCCGTGACCTGTAACCCCATCTGTGGTTCTCCGCTCCAGGAGCTGTACTTCAGCACCGTGGACACTTTCCAGAAGTTCGTGGATGCCCTGTTCCTTCAGACGCTCCCTGGCATGACTGGCCTCCCCCCGGAAGAGTGTGACTACTTGAGGCAGGAAGTCCAGGAGAACGCTGCCTGGCAGCTGGGGAAGTCAAATCGCTTCCGGAGGCAGCAGTGGAAACTCTTCCAGGAGCTCCTAGAGCAAGACCAGCAGGTGCGGGCATTTGGGAACCCAGGGGCTGGGGTCTGCATTTTAGAAACACACGAAGAAGCGTGAGAGATCTCACGTCCTGAACACCCACTAGTGCCTATTGTAGGTGCTCTACGGAGATGACTGTTGCCTCCCTTTCACAATGGCCCACCACAGGGGTGGGATGAGAGAGCAGAGCCCTTATCTCCCTCAACAGGAAGTCGGAGATCATACCTTAAGTTGATCGATTAAGAAGAGCAGCAAAGCTTGTTCTTTAGAACGAGAGAAATAAGTAGCCAACCAAATGGCAGGAAGGAAAGGGGTTCACAGGGAGTGGGCTCAGTGGGGGTGGGAGAAGCGGCACACAGGACTCCTGTTTTTCAGTGAGTCTGATTATTAAGACCATGGATTTATGCTGAGACAGAATCGTGACCCCTCAAAGATATCTATGCTGTGTTCCCTTACAGGGCAAAAGGCAGGTGCGGTTGAGTGAAGGACTTTGAGGTAGGGATGTTTGTGGGTTATCCTGGTGAGCCCAGCGTAATTGCAAGGGTTCTTACAGGAGACAGGCAGAAGGGTGGGAGTCAGAGAAGGAGGGTTGATGTTCTAAGCAGAGGTCGGAATGGTGTGGCTGTGAGTCTAGGAACTCTGGCTGGTTCTAGAAGCTGGAAAGGTCAAGGAGCACATTCTCCCCTATAGCCTCTAGAAAAGAGCACAGCCCTGCTGACACCTTGATTTTAACCCATTAAGACCCATTTCAGCCTTCTGGCCTCAAAACTGTAAGATAGCAGATTTGTGTTGTTTTCAGCTACAGCTTGTAGCAATGTGGAACAGCAGCAATAGGAAACTAATACAATACACATTGATTTTTTTTTTTTTTTTTTTTTTGGAATGGAATCTTGCTCTGTCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCATCATGGTGGCCAAGCTGATCTCAAACTCCTGAACTCAAGTGATCTGCCCGCCTTAGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCAGATTGATTTTATCTTTAAAAAATTAAAAACTGTTAAATTAAAGAAGGCATTTCCAAATTCAACATCCACCAAGACAGCCCACCAGTCCTTTCTCCCCTGCCTTCGGCCCTCTAGAGGCTGTGAAACTAACATCCTCAATATCCATATCCCTTGCAACTAGCCATGGCTGAGTGACACTGCTCTGGCCTTTGAAACAAAGCAAAGGGCTTCTGTTTCCTGATACCAGAGCCGGTTTTGCTTGGAGCAGCCCCCTTCTTCAGTGTCCCATTCTTCCTTCTTAGAACGCATGGGAGGCCTGGAGGTGCATCAGCCTTTCTCTGCCCTAGAGGCAGCCTGCGTGAGCCTGGTGGGCTCCAGATGGTGGAGCAGTCTCAGACAGCCCTGAGCCCCTGGCAGTGCTGTTAAGCCATTACCGCAGCCCTGAACCGCCTGCCCCTACATGCTTATTGTCAGAAACAAGCCCTGTTTCTTTAAGTTGGGTTTGCGATTAGTTACAAAAGACCAGTGTGACTGATGCATCCATCTGAAAGAGGTTTCCTAAAACAATTCCTTGGGGCAATAGAAAGTACAAAGTAGATAGAGGAGAGCGTTATGCAAACACATGACCACTCACAGCTGTGGGGACAGGCACAGGGCCTAGTTGCCTGCCCGAATGAATTCTTAGACCTCCTTCTAGTTCATTCAGTCCTCTGTCAGTGGCATCCGGTTGCCCTGTCGTAGGTGACTTGTCTGTCTCCTGCATTTGGCTATGAGTTCCTTGAGGACGGCAACCCTGATTTTCATCTTGACACCACCTATTCAAAGCCCAGTGGCTGCAAT | TCGAGAGCAGCTTGAGCAACACAGCAAAACCTCATCTCCACAAAAAAATATAAAAAATTAGCCAGGCATAGTGGCATACACTCTATAGTCCCAGCTATTTGGGAGGCTGAGGTGAGAGGGTCACCTGAGTCCAGGAAGTCGAGGGTGTGATCACGCCCCTGAACTCCAGCCTGGGCGACAGAGGGAGATCCTGTCTCAAAACAAAACAAAAAGCATCTGCACAATGAAACATGCAATGAGATGCCATTTATGGGTGAATGAACACAAACACCAAAAGCCACCTTTATGAACATGATATGCAGGGAAAGTAGAGACCTGTAAACTGGAGAGAGGGTCACTGCATTCATGGGGATGGCTGTCTGAGGCTGAGAGGGAGGGAAAAGGATTGCAGGGAGCCATAAAGAATTCCAACTTGACCTGTAAAGTTCCATGTTTTTTGTTTTTGTTTGTTTTTATATTTTTTGAGATGGAGTCTCTCTCTGTCACCCAAGTTGGAGTGCAGTGACACAATCTCAGCCCACTGCAACCTGGACCAGCTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGACGTGCGCCACCACGCCCGGCTAATTTTTATATTTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCCAACTCCCAACCTCAGGTGATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCATGCGCAGCTATCTGTAAGGTTCCATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACAGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGCTTCCATGTTTTAAATGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGTGAGCGGTGGATTCACAGGTGTTTAATATTATTATTATGGTGTGGGTTTGTTTTTCATGATTTTTAGAAAGATATTGGGGTGGGGGAGCGGGGATGAAGGCAACAGAATGATAAGACAAGAGGCAGGACAGCCGGAGCCATCTCTGAGCTGCCTGGAAGCCCTGCTGGGTGATCTTGAGTGTGAGGGGAACAGAGGTCTTCCACGTTATTTGAGGAGGACTCATGATAAGACGTGAAGTTTATGAAAATAACTCACTTAAGCATGGAGGGTGGAAGGGAAGACAAAGAGACCAGTGGGGATTGTGAAAATAATCTAGATGGTGACCCAGGGGAGGCCCTAATGATGGTTTTGAGGAGATGCCAGAGTTAGAGAGCTCACTGTGGGAGGAGAGCAGGTGTGAAGCTTGGCAAGGAGAGCAGATGTGAAGGTTGGCGAGGAGAGCAGGTGTGAAGCTTGGCTGAGTGGGGTTGAGAGGGCTCTAAGGTGACGGGTGCATCCCAAGGCTGTGCGTGTGTGCGTGTGTGTGTGTGTAGGAGTGTGTCTATGTGTGCAAGTATGTATGAGTCTATGTGTGATTCATGTGTGTATGTGTGCACTTGTCTATGCATGGATGTATGTAGGAGTGTGTGCATGGATCAAATGTGAACGAAAGTGTGCATGTGTTCCTGTGTGTGTGCATGTGTGTATATGTGCCTGTGTCTGCATGCATATGTGTATGAGTACATGTGCATGTGTCTGTGTGTACAAGTGTGTGTGCATGTGGGGGAGTTACTTGTCTGTGTGTACAAGTGTGTGTGCATGTGGGGGAGTTACTTGTATGTGTGTCTATGCATGCTTGCATACGTGTGACTTGAGAGTTCCTGTCTGTGGATCTCCTTGTGTCTTGTGGGAGGCTTGTGGAGGAGAGGCAGAGAGCAGCTCAGGCCCCACACAGGGTCCTGCCGTGACCTGTAACCCCATCTGTGGTTCTCCGCTCCAGGAGCTGTACTTCAGCACCGTGGACACTTTCCAGAAGTTCGTGGATGCCCTGTTCCTTCAGACGCTCCCTGGCATGACTGGCCTCCCCCCGGAAGAGTGTGACTACTTGAGGCAGGAAGTCCAGGAGAACGTGCCTGGCAGCTGGGGAAGTCAAATCGCTTCCGGAGGCAGCAGTGGAAACTCTTCCAGGAGCTCCTAGAGCAAGACCAGCAGGTGCGGGCATTTGGGAACCCAGGGGCTGGGGTCTGCATTTTAGAAACACACGAAGAAGCGTGAGAGATCTCACGTCCTGAACACCCACTAGTGCCTATTGTAGGTGCTCTACGGAGATGACTGTTGCCTCCCTTTCACAATGGCCCACCACAGGGGTGGGATGAGAGAGCAGAGCCCTTATCTCCCTCAACAGGAAGTCGGAGATCATACCTTAAGTTGATCGATTAAGAAGAGCAGCAAAGCTTGTTCTTTAGAACGAGAGAAATAAGTAGCCAACCAAATGGCAGGAAGGAAAGGGGTTCACAGGGAGTGGGCTCAGTGGGGGTGGGAGAAGCGGCACACAGGACTCCTGTTTTTCAGTGAGTCTGATTATTAAGACCATGGATTTATGCTGAGACAGAATCGTGACCCCTCAAAGATATCTATGCTGTGTTCCCTTACAGGGCAAAAGGCAGGTGCGGTTGAGTGAAGGACTTTGAGGTAGGGATGTTTGTGGGTTATCCTGGTGAGCCCAGCGTAATTGCAAGGGTTCTTACAGGAGACAGGCAGAAGGGTGGGAGTCAGAGAAGGAGGGTTGATGTTCTAAGCAGAGGTCGGAATGGTGTGGCTGTGAGTCTAGGAACTCTGGCTGGTTCTAGAAGCTGGAAAGGTCAAGGAGCACATTCTCCCCTATAGCCTCTAGAAAAGAGCACAGCCCTGCTGACACCTTGATTTTAACCCATTAAGACCCATTTCAGCCTTCTGGCCTCAAAACTGTAAGATAGCAGATTTGTGTTGTTTTCAGCTACAGCTTGTAGCAATGTGGAACAGCAGCAATAGGAAACTAATACAATACACATTGATTTTTTTTTTTTTTTTTTTTTTGGAATGGAATCTTGCTCTGTCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCATCATGGTGGCCAAGCTGATCTCAAACTCCTGAACTCAAGTGATCTGCCCGCCTTAGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCAGATTGATTTTATCTTTAAAAAATTAAAAACTGTTAAATTAAAGAAGGCATTTCCAAATTCAACATCCACCAAGACAGCCCACCAGTCCTTTCTCCCCTGCCTTCGGCCCTCTAGAGGCTGTGAAACTAACATCCTCAATATCCATATCCCTTGCAACTAGCCATGGCTGAGTGACACTGCTCTGGCCTTTGAAACAAAGCAAAGGGCTTCTGTTTCCTGATACCAGAGCCGGTTTTGCTTGGAGCAGCCCCCTTCTTCAGTGTCCCATTCTTCCTTCTTAGAACGCATGGGAGGCCTGGAGGTGCATCAGCCTTTCTCTGCCCTAGAGGCAGCCTGCGTGAGCCTGGTGGGCTCCAGATGGTGGAGCAGTCTCAGACAGCCCTGAGCCCCTGGCAGTGCTGTTAAGCCATTACCGCAGCCCTGAACCGCCTGCCCCTACATGCTTATTGTCAGAAACAAGCCCTGTTTCTTTAAGTTGGGTTTGCGATTAGTTACAAAAGACCAGTGTGACTGATGCATCCATCTGAAAGAGGTTTCCTAAAACAATTCCTTGGGGCAATAGAAAGTACAAAGTAGATAGAGGAGAGCGTTATGCAAACACATGACCACTCACAGCTGTGGGGACAGGCACAGGGCCTAGTTGCCTGCCCGAATGAATTCTTAGACCTCCTTCTAGTTCATTCAGTCCTCTGTCAGTGGCATCCGGTTGCCCTGTCGTAGGTGACTTGTCTGTCTCCTGCATTTGGCTATGAGTTCCTTGAGGACGGCAACCCTGATTTTCATCTTGACACCACCTATTCAAAGCCCAGTGGCTGCAATN | pathogenic | 79,848 |
Is the genetic mutation found on chromosome 4 at position 5783736, within the gene EVC (EvC ciliary complex subunit 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | AATTAGCCAGGCATAGTGGCATACACTCTATAGTCCCAGCTATTTGGGAGGCTGAGGTGAGAGGGTCACCTGAGTCCAGGAAGTCGAGGGTGTGATCACGCCCCTGAACTCCAGCCTGGGCGACAGAGGGAGATCCTGTCTCAAAACAAAACAAAAAGCATCTGCACAATGAAACATGCAATGAGATGCCATTTATGGGTGAATGAACACAAACACCAAAAGCCACCTTTATGAACATGATATGCAGGGAAAGTAGAGACCTGTAAACTGGAGAGAGGGTCACTGCATTCATGGGGATGGCTGTCTGAGGCTGAGAGGGAGGGAAAAGGATTGCAGGGAGCCATAAAGAATTCCAACTTGACCTGTAAAGTTCCATGTTTTTTGTTTTTGTTTGTTTTTATATTTTTTGAGATGGAGTCTCTCTCTGTCACCCAAGTTGGAGTGCAGTGACACAATCTCAGCCCACTGCAACCTGGACCAGCTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGACGTGCGCCACCACGCCCGGCTAATTTTTATATTTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCCAACTCCCAACCTCAGGTGATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCATGCGCAGCTATCTGTAAGGTTCCATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACAGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGCTTCCATGTTTTAAATGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGTGAGCGGTGGATTCACAGGTGTTTAATATTATTATTATGGTGTGGGTTTGTTTTTCATGATTTTTAGAAAGATATTGGGGTGGGGGAGCGGGGATGAAGGCAACAGAATGATAAGACAAGAGGCAGGACAGCCGGAGCCATCTCTGAGCTGCCTGGAAGCCCTGCTGGGTGATCTTGAGTGTGAGGGGAACAGAGGTCTTCCACGTTATTTGAGGAGGACTCATGATAAGACGTGAAGTTTATGAAAATAACTCACTTAAGCATGGAGGGTGGAAGGGAAGACAAAGAGACCAGTGGGGATTGTGAAAATAATCTAGATGGTGACCCAGGGGAGGCCCTAATGATGGTTTTGAGGAGATGCCAGAGTTAGAGAGCTCACTGTGGGAGGAGAGCAGGTGTGAAGCTTGGCAAGGAGAGCAGATGTGAAGGTTGGCGAGGAGAGCAGGTGTGAAGCTTGGCTGAGTGGGGTTGAGAGGGCTCTAAGGTGACGGGTGCATCCCAAGGCTGTGCGTGTGTGCGTGTGTGTGTGTGTAGGAGTGTGTCTATGTGTGCAAGTATGTATGAGTCTATGTGTGATTCATGTGTGTATGTGTGCACTTGTCTATGCATGGATGTATGTAGGAGTGTGTGCATGGATCAAATGTGAACGAAAGTGTGCATGTGTTCCTGTGTGTGTGCATGTGTGTATATGTGCCTGTGTCTGCATGCATATGTGTATGAGTACATGTGCATGTGTCTGTGTGTACAAGTGTGTGTGCATGTGGGGGAGTTACTTGTCTGTGTGTACAAGTGTGTGTGCATGTGGGGGAGTTACTTGTATGTGTGTCTATGCATGCTTGCATACGTGTGACTTGAGAGTTCCTGTCTGTGGATCTCCTTGTGTCTTGTGGGAGGCTTGTGGAGGAGAGGCAGAGAGCAGCTCAGGCCCCACACAGGGTCCTGCCGTGACCTGTAACCCCATCTGTGGTTCTCCGCTCCAGGAGCTGTACTTCAGCACCGTGGACACTTTCCAGAAGTTCGTGGATGCCCTGTTCCTTCAGACGCTCCCTGGCATGACTGGCCTCCCCCCGGAAGAGTGTGACTACTTGAGGCAGGAAGTCCAGGAGAACGCTGCCTGGCAGCTGGGGAAGTCAAATCGCTTCCGGAGGCAGCAGTGGAAACTCTTCCAGGAGCTCCTAGAGCAAGACCAGCAGGTGCGGGCATTTGGGAACCCAGGGGCTGGGGTCTGCATTTTAGAAACACACGAAGAAGCGTGAGAGATCTCACGTCCTGAACACCCACTAGTGCCTATTGTAGGTGCTCTACGGAGATGACTGTTGCCTCCCTTTCACAATGGCCCACCACAGGGGTGGGATGAGAGAGCAGAGCCCTTATCTCCCTCAACAGGAAGTCGGAGATCATACCTTAAGTTGATCGATTAAGAAGAGCAGCAAAGCTTGTTCTTTAGAACGAGAGAAATAAGTAGCCAACCAAATGGCAGGAAGGAAAGGGGTTCACAGGGAGTGGGCTCAGTGGGGGTGGGAGAAGCGGCACACAGGACTCCTGTTTTTCAGTGAGTCTGATTATTAAGACCATGGATTTATGCTGAGACAGAATCGTGACCCCTCAAAGATATCTATGCTGTGTTCCCTTACAGGGCAAAAGGCAGGTGCGGTTGAGTGAAGGACTTTGAGGTAGGGATGTTTGTGGGTTATCCTGGTGAGCCCAGCGTAATTGCAAGGGTTCTTACAGGAGACAGGCAGAAGGGTGGGAGTCAGAGAAGGAGGGTTGATGTTCTAAGCAGAGGTCGGAATGGTGTGGCTGTGAGTCTAGGAACTCTGGCTGGTTCTAGAAGCTGGAAAGGTCAAGGAGCACATTCTCCCCTATAGCCTCTAGAAAAGAGCACAGCCCTGCTGACACCTTGATTTTAACCCATTAAGACCCATTTCAGCCTTCTGGCCTCAAAACTGTAAGATAGCAGATTTGTGTTGTTTTCAGCTACAGCTTGTAGCAATGTGGAACAGCAGCAATAGGAAACTAATACAATACACATTGATTTTTTTTTTTTTTTTTTTTTTGGAATGGAATCTTGCTCTGTCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCATCATGGTGGCCAAGCTGATCTCAAACTCCTGAACTCAAGTGATCTGCCCGCCTTAGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCAGATTGATTTTATCTTTAAAAAATTAAAAACTGTTAAATTAAAGAAGGCATTTCCAAATTCAACATCCACCAAGACAGCCCACCAGTCCTTTCTCCCCTGCCTTCGGCCCTCTAGAGGCTGTGAAACTAACATCCTCAATATCCATATCCCTTGCAACTAGCCATGGCTGAGTGACACTGCTCTGGCCTTTGAAACAAAGCAAAGGGCTTCTGTTTCCTGATACCAGAGCCGGTTTTGCTTGGAGCAGCCCCCTTCTTCAGTGTCCCATTCTTCCTTCTTAGAACGCATGGGAGGCCTGGAGGTGCATCAGCCTTTCTCTGCCCTAGAGGCAGCCTGCGTGAGCCTGGTGGGCTCCAGATGGTGGAGCAGTCTCAGACAGCCCTGAGCCCCTGGCAGTGCTGTTAAGCCATTACCGCAGCCCTGAACCGCCTGCCCCTACATGCTTATTGTCAGAAACAAGCCCTGTTTCTTTAAGTTGGGTTTGCGATTAGTTACAAAAGACCAGTGTGACTGATGCATCCATCTGAAAGAGGTTTCCTAAAACAATTCCTTGGGGCAATAGAAAGTACAAAGTAGATAGAGGAGAGCGTTATGCAAACACATGACCACTCACAGCTGTGGGGACAGGCACAGGGCCTAGTTGCCTGCCCGAATGAATTCTTAGACCTCCTTCTAGTTCATTCAGTCCTCTGTCAGTGGCATCCGGTTGCCCTGTCGTAGGTGACTTGTCTGTCTCCTGCATTTGGCTATGAGTTCCTTGAGGACGGCAACCCTGATTTTCATCTTGACACCACCTATTCAAAGCCCAGTGGCTGCAATATGGTAAATGTTCAGGAAAACTTGTAGCATTTCCAGCAACAATAATGCAGCTTTG | AATTAGCCAGGCATAGTGGCATACACTCTATAGTCCCAGCTATTTGGGAGGCTGAGGTGAGAGGGTCACCTGAGTCCAGGAAGTCGAGGGTGTGATCACGCCCCTGAACTCCAGCCTGGGCGACAGAGGGAGATCCTGTCTCAAAACAAAACAAAAAGCATCTGCACAATGAAACATGCAATGAGATGCCATTTATGGGTGAATGAACACAAACACCAAAAGCCACCTTTATGAACATGATATGCAGGGAAAGTAGAGACCTGTAAACTGGAGAGAGGGTCACTGCATTCATGGGGATGGCTGTCTGAGGCTGAGAGGGAGGGAAAAGGATTGCAGGGAGCCATAAAGAATTCCAACTTGACCTGTAAAGTTCCATGTTTTTTGTTTTTGTTTGTTTTTATATTTTTTGAGATGGAGTCTCTCTCTGTCACCCAAGTTGGAGTGCAGTGACACAATCTCAGCCCACTGCAACCTGGACCAGCTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGACGTGCGCCACCACGCCCGGCTAATTTTTATATTTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCCAACTCCCAACCTCAGGTGATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCATGCGCAGCTATCTGTAAGGTTCCATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACAGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGCTTCCATGTTTTAAATGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGTGAGCGGTGGATTCACAGGTGTTTAATATTATTATTATGGTGTGGGTTTGTTTTTCATGATTTTTAGAAAGATATTGGGGTGGGGGAGCGGGGATGAAGGCAACAGAATGATAAGACAAGAGGCAGGACAGCCGGAGCCATCTCTGAGCTGCCTGGAAGCCCTGCTGGGTGATCTTGAGTGTGAGGGGAACAGAGGTCTTCCACGTTATTTGAGGAGGACTCATGATAAGACGTGAAGTTTATGAAAATAACTCACTTAAGCATGGAGGGTGGAAGGGAAGACAAAGAGACCAGTGGGGATTGTGAAAATAATCTAGATGGTGACCCAGGGGAGGCCCTAATGATGGTTTTGAGGAGATGCCAGAGTTAGAGAGCTCACTGTGGGAGGAGAGCAGGTGTGAAGCTTGGCAAGGAGAGCAGATGTGAAGGTTGGCGAGGAGAGCAGGTGTGAAGCTTGGCTGAGTGGGGTTGAGAGGGCTCTAAGGTGACGGGTGCATCCCAAGGCTGTGCGTGTGTGCGTGTGTGTGTGTGTAGGAGTGTGTCTATGTGTGCAAGTATGTATGAGTCTATGTGTGATTCATGTGTGTATGTGTGCACTTGTCTATGCATGGATGTATGTAGGAGTGTGTGCATGGATCAAATGTGAACGAAAGTGTGCATGTGTTCCTGTGTGTGTGCATGTGTGTATATGTGCCTGTGTCTGCATGCATATGTGTATGAGTACATGTGCATGTGTCTGTGTGTACAAGTGTGTGTGCATGTGGGGGAGTTACTTGTCTGTGTGTACAAGTGTGTGTGCATGTGGGGGAGTTACTTGTATGTGTGTCTATGCATGCTTGCATACGTGTGACTTGAGAGTTCCTGTCTGTGGATCTCCTTGTGTCTTGTGGGAGGCTTGTGGAGGAGAGGCAGAGAGCAGCTCAGGCCCCACACAGGGTCCTGCCGTGACCTGTAACCCCATCTGTGGTTCTCCGCTCCAGGAGCTGTACTTCAGCACCGTGGACACTTTCCAGAAGTTCGTGGATGCCCTGTTCCTTCAGACGCTCCCTGGCATGACTGGCCTCCCCCCGGAAGAGTGTGACTACTTGAGGCAGGAAGTCCAGGAGAACGCTGCCTGGCAGCTGGGGAAGTCAAATCGCTTCCGGAGGCAGCAGTGGAAACTCTTCAGGAGCTCCTAGAGCAAGACCAGCAGGTGCGGGCATTTGGGAACCCAGGGGCTGGGGTCTGCATTTTAGAAACACACGAAGAAGCGTGAGAGATCTCACGTCCTGAACACCCACTAGTGCCTATTGTAGGTGCTCTACGGAGATGACTGTTGCCTCCCTTTCACAATGGCCCACCACAGGGGTGGGATGAGAGAGCAGAGCCCTTATCTCCCTCAACAGGAAGTCGGAGATCATACCTTAAGTTGATCGATTAAGAAGAGCAGCAAAGCTTGTTCTTTAGAACGAGAGAAATAAGTAGCCAACCAAATGGCAGGAAGGAAAGGGGTTCACAGGGAGTGGGCTCAGTGGGGGTGGGAGAAGCGGCACACAGGACTCCTGTTTTTCAGTGAGTCTGATTATTAAGACCATGGATTTATGCTGAGACAGAATCGTGACCCCTCAAAGATATCTATGCTGTGTTCCCTTACAGGGCAAAAGGCAGGTGCGGTTGAGTGAAGGACTTTGAGGTAGGGATGTTTGTGGGTTATCCTGGTGAGCCCAGCGTAATTGCAAGGGTTCTTACAGGAGACAGGCAGAAGGGTGGGAGTCAGAGAAGGAGGGTTGATGTTCTAAGCAGAGGTCGGAATGGTGTGGCTGTGAGTCTAGGAACTCTGGCTGGTTCTAGAAGCTGGAAAGGTCAAGGAGCACATTCTCCCCTATAGCCTCTAGAAAAGAGCACAGCCCTGCTGACACCTTGATTTTAACCCATTAAGACCCATTTCAGCCTTCTGGCCTCAAAACTGTAAGATAGCAGATTTGTGTTGTTTTCAGCTACAGCTTGTAGCAATGTGGAACAGCAGCAATAGGAAACTAATACAATACACATTGATTTTTTTTTTTTTTTTTTTTTTGGAATGGAATCTTGCTCTGTCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCATCATGGTGGCCAAGCTGATCTCAAACTCCTGAACTCAAGTGATCTGCCCGCCTTAGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCAGATTGATTTTATCTTTAAAAAATTAAAAACTGTTAAATTAAAGAAGGCATTTCCAAATTCAACATCCACCAAGACAGCCCACCAGTCCTTTCTCCCCTGCCTTCGGCCCTCTAGAGGCTGTGAAACTAACATCCTCAATATCCATATCCCTTGCAACTAGCCATGGCTGAGTGACACTGCTCTGGCCTTTGAAACAAAGCAAAGGGCTTCTGTTTCCTGATACCAGAGCCGGTTTTGCTTGGAGCAGCCCCCTTCTTCAGTGTCCCATTCTTCCTTCTTAGAACGCATGGGAGGCCTGGAGGTGCATCAGCCTTTCTCTGCCCTAGAGGCAGCCTGCGTGAGCCTGGTGGGCTCCAGATGGTGGAGCAGTCTCAGACAGCCCTGAGCCCCTGGCAGTGCTGTTAAGCCATTACCGCAGCCCTGAACCGCCTGCCCCTACATGCTTATTGTCAGAAACAAGCCCTGTTTCTTTAAGTTGGGTTTGCGATTAGTTACAAAAGACCAGTGTGACTGATGCATCCATCTGAAAGAGGTTTCCTAAAACAATTCCTTGGGGCAATAGAAAGTACAAAGTAGATAGAGGAGAGCGTTATGCAAACACATGACCACTCACAGCTGTGGGGACAGGCACAGGGCCTAGTTGCCTGCCCGAATGAATTCTTAGACCTCCTTCTAGTTCATTCAGTCCTCTGTCAGTGGCATCCGGTTGCCCTGTCGTAGGTGACTTGTCTGTCTCCTGCATTTGGCTATGAGTTCCTTGAGGACGGCAACCCTGATTTTCATCTTGACACCACCTATTCAAAGCCCAGTGGCTGCAATATGGTAAATGTTCAGGAAAACTTGTAGCATTTCCAGCAACAATAATGCAGCTTTGN | pathogenic | 79,850 |
For chromosome 4, position 5797012, gene EVC (EvC ciliary complex subunit 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Curry-Hall_syndrome', 'EVC-related_disorder', 'Ellis-van_Creveld_syndrome'] | CTATAAGTGAGAACATGCAGTATTTGGTTTTCTGTGTCTACATTAATTTCCTTACGATAATGGCTTCCAGCTGCATCCATGTTACTGCAAATAACATGATTTCATTATTTTTTATGACTGCATAGTATTCCATGGTGTATATATACCATTTCTTTATCCAATCCACCATTGATGAACACCTAGGTTGATTCAGTGTCTTTGCTATCATGAATAGCACTGCAATGAACATATAAGTACATGTGTCTTTTTGGTAGAATTTATTTTCAATTTATTTTCTTTCAGGTATCAATATAACTATTTTTTAGTTGCCCAGCCCTTTGCAGAAAACAAATTGTGCATACCATCAAGAAGCAGGTGTCTAGCTATGGAATTGGATAATACAAGGGAAACATCAGAAGAGGATGGAGGCTGGGTGTGGTGGCTTACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCGCCTGAGCTCAGGAGTTCAAGACCACCCTAGGCAGCATGGTGAAACCCTGTCTCTACTAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGACTGAGGCACAAGAATTGCTTGAGCCCCAGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCATTGCACTCCAGCCTGGGCTACAGAGTGAGACTCCATCTCAAAAACAAATAAACAAACAAAGAAGAGGATGGAAACATAAGTAGGCTCGGACCAGGGACACCTGGTGAGCCATACTGAGGACAACAGAGAGCGATTGGGGAATTTGTCTCGCCTGAAAACCTGTGTCTTTTAATTGCATTAATGTTTAGTCCATTTATGTTTAATGTAAATCCTCATGCTGATATATATTTGGGTTTTCATATCAGTTTATGAAAATTCTCAGATGTTTTCCCTTTAGATCTTCCCCTGCCTATTCTCTCCCTCCTCTCTTTCTGGGACTCCAGTGACAGGATTTCTGAGGCTTTTCCACTTTATCCCATATGTCTCTTACATGCTCCTCTGTATTTTTCATTCTTTTCTTCTCCGTGGTTCAGCATGGATATTTTCCTTTGAGGTATCTTCCAGCCACTCTCTCTTCAGCCATATTTTATCAGGTGCTAAACCCATCTCCTGAGTTGTTCATGTCAGTTATTGTGTTTTCAGTTCTAGGATGTCCATTTGATTCCTTGTATAGTTTCCAGTTATCTGCTGAAATTCTTCGTCTTATCATTTAATTTCTGGAACATATTAATCATAATTAGTGTAAAGGTTGTGTCTGACGATTCTGTTTTCTGATATCTCGTGGGCATGTTTCTATTGTCTGTTTTTCTCTTTATTTTTAGTTAATTCTCGTCTGGGTATTTTTATTGGATGATGACCACTAAGCATGAGAAATTGTAGATAATTTAAGACTTCAAATGATATGATCTTCTTCCAGAGAGGATTTATGTTACTTCTAGAAGGAATTTCGGATGGTGGGAGATTCACTCCACCCATGTTGGAATTTAGCTGATTCTGAATTAGGTCTTAGTGGGGAATGACTTTTATTCCTAGGATGAAGGCACCCACCAAAAAGCCTGGAGCGTTTGCCAGCCTCTTCTTGGCAGCTGACTGTCAGACCTCTGTTCACCTCTCAGCCTCTCAGCAGACACCTCAAGTTATACAACCAAATGTTGAACCTCTCTGGCAGGCTGAGTTTTTTTACATGAATCACTGAAATAGGAACTCAAAAATGGCTCAAGATTTCAGCTTTGGATGTGCTGATTTAGAGTCATGCCATTAATTCTAGTGGCTGCATACCATAGGCTGCTGTACACATGCATTGGACAGCCAGGCAGGATGTGATGAGGTTAAAAAGATTAATAGACAAGCAGATGGCGGCGTGGTGCCCAGGGAGCACCCATGCCTAAGAGGATGGCAGCAGAGGGCGGTGATTCCAACCTGCTTCCTTTTGGAGGGGCCTCTTGTGGGCTGTGGCTGTTTGGGGAGCTTGTCACTGGCTTCGTGAAGCCAAGAGCATTGACCCCACCCCTCACCTGCTTTCCTCAAAGGTCCACGCGGTGTGTCCTGCAGGGGCATGACCTGCTGTTGCGCTCAGCCCTCCGGAGGCTGGCACTCCGCGGCAACGCCCTGGCCACCCTGACGCAGATGCGGCTATCGGGGAAGAAGCACCTCCTGCAGGAGCTGCGGGAACAGCGTGCACTGGAGCAGGGGTCCTCCCAGTGCCTGGACGAGCATCAGTGGCAGCTGCTCAGGGCCCTGGTAAGACCAGCATGGTGGCCCCACCCATTCCAGACAGGCGGTGCCCCTGCAGCAGGCCCCAGCTTCCAGCAGGTTTGCCAGAACCCGAATCCTATCACCCTTGGTGCTGCAGGGTGCGGTATTCATTCGCCGGGGCTGCCATAGCAAGGTCCCACAGACCGGGCAGCTTACACTGCACACATTTCCCTGCTCACCATCCTGGAGGCCAGAATTCGGAGATCAGGGTGTGGGCAGGGCCGCTTTGATTCTGAGACCGCACTCCCTGGCTTGTAGATGACTGTCTTCAACCTGTGTCCTCCAGGTCCTTCCTCTGTGGGTGTCCCATCTCTTATAAGGACACCAGGCATATTGGATCAAGGCCCACGTTAATGACCTCACTTGACCTTAATCACCTCCTCAAAGGCACTATCCACTTACTGACCTCCCATTTTGAAGTACTTGGGGTCAGGGCTTCAACATACAAATTTTGAGAGGACACAATTTAACCATAACAAGTGGAGACAGTGGAGCCCCCGTAGGGGCCACCCATGTACCAAAAGTTTTTAGTATCACTGATATAATGAGAAATATATACTGGAAAAACCATACGGAATCAGAGGGGGACAGGTGCAGTTGTCATTGGGGGTATGGTAGAGAAGGCCTCTGTGGTCTCTTTGAAGTGTGATAACAGATCGAAAGAAATAATTAGTAAGTTGTAGAGCTGGGAGTTACACCCAGGTAGGCTGGCTCCAGGCCTCCTGCATGTAGCCACCAAGCTCTGGGAGCAGCTGCTGCTCTTTGACCCATGAATGAGGCACAAGCCCACAGTCTCTTAAGCTCTATCCAGGAGAGCTCCGAGGAGCAGGCAGGACTCACGGACCTCGCTACAGCCCCGCTCACTTCTTTCTCTCTTATTTCTACAAATAAAGGCAGTCCTCAGAGCCCTGTGTGCCCTGCCTCAGCTTCTGTGATATCCTGAGACTCACATCTGGCTTCAAACCTGGCTCTGCTGTGTGACTTTAGAAAGTTACTTAACTTCTCTGAGCCTTCGTGTCCTCCTCAGTGCTAGTGTTCAGGTCTCATGATGTTCTAGAAGGATGAGCAAGGCCCCCCATCTTGTGAGGGGCCATAGATGGTACTGGGCACGCAGTTGATGCTCAATAAATGCCCTTTTTCTGGGGACACAGACACCTAACAGACACCTAACCTCATCCATTGATTTTTGCAAGCCCAGAGGCCACCTCTTTCTGCCCTTTCTCCATCCCTTTTCCAACCCCTGGGCCCTGGATAGGACCAGCCCCACATCCCAGTCCTGGCCAGAGCTTCTCTGTGAGAGGAGCACTTGGCCCCTGCTCCCAGTCCTTTCCCTCCCAGGAGGCGCGTGTGCTGGAGGAGGCCAGCCGGCTAGAGGAGGAAGCACAGCAGACACGGCTGCAGCTCCAGCAGCGGCTCCTGGCCGAGGCCCAGGAGGTGGGGCAGCTTCTGCAGCAGCACATGGAGTGCGCCATTGGGCAGGCGCTGCTGGTGCATGCACGGAATGCAGCCACCAAGAGCCGGGCCAAGGACAGGGATGACTTCAAGGTATGCACTGACCTCTGTCCCTGGGGACACCGAGGGCAAGAATGTTCAGGGTAGGGTCCATGCCTGGGTCTGCTCCTTGCCACACCGTTCATGGAGCTTGTGGCCTAGTAGACTTTGCCTGACTTCTCCATGACTTGATTTTCTCATCTGTAAGGTGGGATCTTCTCCCTCGCAGAATGGGGAGGGGCAGTCGCAGCAGATCACCGGTTCTCCCCCTGCTGTTAGGCCCTGCGCTGCATCATCCTGAGCACTGGCTCTGTCTTCCCA | CTATAAGTGAGAACATGCAGTATTTGGTTTTCTGTGTCTACATTAATTTCCTTACGATAATGGCTTCCAGCTGCATCCATGTTACTGCAAATAACATGATTTCATTATTTTTTATGACTGCATAGTATTCCATGGTGTATATATACCATTTCTTTATCCAATCCACCATTGATGAACACCTAGGTTGATTCAGTGTCTTTGCTATCATGAATAGCACTGCAATGAACATATAAGTACATGTGTCTTTTTGGTAGAATTTATTTTCAATTTATTTTCTTTCAGGTATCAATATAACTATTTTTTAGTTGCCCAGCCCTTTGCAGAAAACAAATTGTGCATACCATCAAGAAGCAGGTGTCTAGCTATGGAATTGGATAATACAAGGGAAACATCAGAAGAGGATGGAGGCTGGGTGTGGTGGCTTACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCGCCTGAGCTCAGGAGTTCAAGACCACCCTAGGCAGCATGGTGAAACCCTGTCTCTACTAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGACTGAGGCACAAGAATTGCTTGAGCCCCAGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCATTGCACTCCAGCCTGGGCTACAGAGTGAGACTCCATCTCAAAAACAAATAAACAAACAAAGAAGAGGATGGAAACATAAGTAGGCTCGGACCAGGGACACCTGGTGAGCCATACTGAGGACAACAGAGAGCGATTGGGGAATTTGTCTCGCCTGAAAACCTGTGTCTTTTAATTGCATTAATGTTTAGTCCATTTATGTTTAATGTAAATCCTCATGCTGATATATATTTGGGTTTTCATATCAGTTTATGAAAATTCTCAGATGTTTTCCCTTTAGATCTTCCCCTGCCTATTCTCTCCCTCCTCTCTTTCTGGGACTCCAGTGACAGGATTTCTGAGGCTTTTCCACTTTATCCCATATGTCTCTTACATGCTCCTCTGTATTTTTCATTCTTTTCTTCTCCGTGGTTCAGCATGGATATTTTCCTTTGAGGTATCTTCCAGCCACTCTCTCTTCAGCCATATTTTATCAGGTGCTAAACCCATCTCCTGAGTTGTTCATGTCAGTTATTGTGTTTTCAGTTCTAGGATGTCCATTTGATTCCTTGTATAGTTTCCAGTTATCTGCTGAAATTCTTCGTCTTATCATTTAATTTCTGGAACATATTAATCATAATTAGTGTAAAGGTTGTGTCTGACGATTCTGTTTTCTGATATCTCGTGGGCATGTTTCTATTGTCTGTTTTTCTCTTTATTTTTAGTTAATTCTCGTCTGGGTATTTTTATTGGATGATGACCACTAAGCATGAGAAATTGTAGATAATTTAAGACTTCAAATGATATGATCTTCTTCCAGAGAGGATTTATGTTACTTCTAGAAGGAATTTCGGATGGTGGGAGATTCACTCCACCCATGTTGGAATTTAGCTGATTCTGAATTAGGTCTTAGTGGGGAATGACTTTTATTCCTAGGATGAAGGCACCCACCAAAAAGCCTGGAGCGTTTGCCAGCCTCTTCTTGGCAGCTGACTGTCAGACCTCTGTTCACCTCTCAGCCTCTCAGCAGACACCTCAAGTTATACAACCAAATGTTGAACCTCTCTGGCAGGCTGAGTTTTTTTACATGAATCACTGAAATAGGAACTCAAAAATGGCTCAAGATTTCAGCTTTGGATGTGCTGATTTAGAGTCATGCCATTAATTCTAGTGGCTGCATACCATAGGCTGCTGTACACATGCATTGGACAGCCAGGCAGGATGTGATGAGGTTAAAAAGATTAATAGACAAGCAGATGGCGGCGTGGTGCCCAGGGAGCACCCATGCCTAAGAGGATGGCAGCAGAGGGCGGTGATTCCAACCTGCTTCCTTTTGGAGGGGCCTCTTGTGGGCTGTGGCTGTTTGGGGAGCTTGTCACTGGCTTCGTGAAGCCAAGAGCATTGACCCCACCCCTCACCTGCTTTCCTGCAGGGGCATGACCTGCTGTTGCGCTCAGCCCTCCGGAGGCTGGCACTCCGCGGCAACGCCCTGGCCACCCTGACGCAGATGCGGCTATCGGGGAAGAAGCACCTCCTGCAGGAGCTGCGGGAACAGCGTGCACTGGAGCAGGGGTCCTCCCAGTGCCTGGACGAGCATCAGTGGCAGCTGCTCAGGGCCCTGGTAAGACCAGCATGGTGGCCCCACCCATTCCAGACAGGCGGTGCCCCTGCAGCAGGCCCCAGCTTCCAGCAGGTTTGCCAGAACCCGAATCCTATCACCCTTGGTGCTGCAGGGTGCGGTATTCATTCGCCGGGGCTGCCATAGCAAGGTCCCACAGACCGGGCAGCTTACACTGCACACATTTCCCTGCTCACCATCCTGGAGGCCAGAATTCGGAGATCAGGGTGTGGGCAGGGCCGCTTTGATTCTGAGACCGCACTCCCTGGCTTGTAGATGACTGTCTTCAACCTGTGTCCTCCAGGTCCTTCCTCTGTGGGTGTCCCATCTCTTATAAGGACACCAGGCATATTGGATCAAGGCCCACGTTAATGACCTCACTTGACCTTAATCACCTCCTCAAAGGCACTATCCACTTACTGACCTCCCATTTTGAAGTACTTGGGGTCAGGGCTTCAACATACAAATTTTGAGAGGACACAATTTAACCATAACAAGTGGAGACAGTGGAGCCCCCGTAGGGGCCACCCATGTACCAAAAGTTTTTAGTATCACTGATATAATGAGAAATATATACTGGAAAAACCATACGGAATCAGAGGGGGACAGGTGCAGTTGTCATTGGGGGTATGGTAGAGAAGGCCTCTGTGGTCTCTTTGAAGTGTGATAACAGATCGAAAGAAATAATTAGTAAGTTGTAGAGCTGGGAGTTACACCCAGGTAGGCTGGCTCCAGGCCTCCTGCATGTAGCCACCAAGCTCTGGGAGCAGCTGCTGCTCTTTGACCCATGAATGAGGCACAAGCCCACAGTCTCTTAAGCTCTATCCAGGAGAGCTCCGAGGAGCAGGCAGGACTCACGGACCTCGCTACAGCCCCGCTCACTTCTTTCTCTCTTATTTCTACAAATAAAGGCAGTCCTCAGAGCCCTGTGTGCCCTGCCTCAGCTTCTGTGATATCCTGAGACTCACATCTGGCTTCAAACCTGGCTCTGCTGTGTGACTTTAGAAAGTTACTTAACTTCTCTGAGCCTTCGTGTCCTCCTCAGTGCTAGTGTTCAGGTCTCATGATGTTCTAGAAGGATGAGCAAGGCCCCCCATCTTGTGAGGGGCCATAGATGGTACTGGGCACGCAGTTGATGCTCAATAAATGCCCTTTTTCTGGGGACACAGACACCTAACAGACACCTAACCTCATCCATTGATTTTTGCAAGCCCAGAGGCCACCTCTTTCTGCCCTTTCTCCATCCCTTTTCCAACCCCTGGGCCCTGGATAGGACCAGCCCCACATCCCAGTCCTGGCCAGAGCTTCTCTGTGAGAGGAGCACTTGGCCCCTGCTCCCAGTCCTTTCCCTCCCAGGAGGCGCGTGTGCTGGAGGAGGCCAGCCGGCTAGAGGAGGAAGCACAGCAGACACGGCTGCAGCTCCAGCAGCGGCTCCTGGCCGAGGCCCAGGAGGTGGGGCAGCTTCTGCAGCAGCACATGGAGTGCGCCATTGGGCAGGCGCTGCTGGTGCATGCACGGAATGCAGCCACCAAGAGCCGGGCCAAGGACAGGGATGACTTCAAGGTATGCACTGACCTCTGTCCCTGGGGACACCGAGGGCAAGAATGTTCAGGGTAGGGTCCATGCCTGGGTCTGCTCCTTGCCACACCGTTCATGGAGCTTGTGGCCTAGTAGACTTTGCCTGACTTCTCCATGACTTGATTTTCTCATCTGTAAGGTGGGATCTTCTCCCTCGCAGAATGGGGAGGGGCAGTCGCAGCAGATCACCGGTTCTCCCCCTGCTGTTAGGCCCTGCGCTGCATCATCCTGAGCACTGGCTCTGTCTTCCCANNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 79,860 |
Is the chromosome 4, position 5802102 variant in EVC (EvC ciliary complex subunit 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GTAAAGTGAGGCCGAGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTAGTGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGCAGACTCACTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTGACATAGCTAGACTCTGTCTAAAAAACAAACAAACAAACAAAAAACAGAAAAGCATTGAGTTTAGTTTCTAGAAGAATGGTCATTTATTCAACCTGTATTCAGGGGCTTCCTGGAACACTAGTGCAAATGTGTGTGCCAGTGGGTACGGGGAGACTGGCCAGAAAAAAACTGAGGAGGAGGAGAGAAGGGGTGGCCAAGGATGGAGGGCCTGGTGAAGGGAGGAGAGGTGGGTGCAGAGTGGGGTGTCCGCCACTTTACTGTGGCAGGAAGGCAGGTGCACATAGGATGTGAAGATGTGGGTGGGCTTGCTGACCTTCGGGGAAAGAGGATGGGAGCTCCCGACAGGAAGTGTAAGGCTGGAGCCCAGGTCCTTGGAGGGGTGGAGTGGGAGCCCCCTTTGCAGATGGGGCAGAGGAGAAGGAAAGGACCATTGGCAGTAAGGGATGAGCAGGGGCTCGGGAGTTAGAAGACCAGCTCAGACCTGCACTGCCACTCCGGGCTGTACAGGCTAGTCACCTCCGCAGCCTCCGCGCCGCGCCACACCTGTGTGCTCAGGTACCTTTCTCAGATGCTGTGGTGAGAGTAAGTGGGTATTTTTTCTTACCCAAAGCCTAGCACCATCCAATAAATATTTGCCGAAATGGGGATGAGCTTTTCTGGCTTTTGCCCATCCTCTTATGAGGAAAAGAATGATAACTTTGTCAGTGCACAACCAGCACATCCCCAATGATGGGATGTCTCAGGGTCTCCTGTCTTTTCTACTTTGGTCTGAAGATGCATCATGTAGAAACGCATGTAGCTGCAAGTAACATGGCTCAAAGAAATAGAAGTTACCCCATACCACAAGAAATGGGGAGGTGCGTGACCCAGGCTGCCACATTGGCTTTGTGATGTGACCGAGGACGAGGGTCTTTGTTTCTGACCCTGCATTCTTGCTGTTAATTTGTTGCTTCATAGTCTTAAAATGGCCACTGTCACTCCAGATGTCAGGCCTGCATTCCAGGTAGGAGGAGGGAACAGCAGTCTTTCACCTGCTGGTCCTCCACCTTAATGTTTAGAAACGGAAGGCCTCGGCCGGGCGTGGTGGCTCATGCCTGTACTCCAAGTACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGCCTGGTGGTGCTTGCCTATAATCCCAGATACTTGGGAGACTGAGGCAGGAAAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGGGCCGAGATTGTGCTCCAGCCTAGGCAACAGAGTGAGTCTCCATCTCAAAAAAAAAAAAAAAAAAAAAGATGCGGGGAAGGCCTCTTAGCCGACTTTCCCTAACATCGCATTTCATTGGCTCTAGACATCCCTGACCTAAGAAGATAGGATTCCCATGACTAGTTTAAACCAGCCATGCACTCTCTGCCTGCTTCCTGACCAATCCAGGTTGGTGAGTAGGTGGAAGATCTGAACCAGGGCATGGGGAGGCAGGGACTGGATGGGCCGTGGGTGGCTCCCACGTGTGACTTCTCTGCTGTCCCTGTCCTTCCTTTCTTCCCTCAGAGGACACTGATGGAGGCGGCAGTGGAGAGCGTCTACGTGACCAGCGCTGGTGTCAGCCGCCTGGTGCAGGCGTATTACCAGCAAATCGGAAGGATCATGGAGGACCACGAGGAGAGAAAACTGCAGCACCTGAAGACCCTGCAGGGTACGGGACCCCCCCTCAGGGAAGCCCCAGAAGAGACTGGCAATGTGTGCTTTTAGTTTGGGGCAGAATAGGATGTCAGATACTGTGAATTTTATTTTTGGGAATATAATTATTTCAGTGTTTTAATGTATTTATCCCGTGCTTTGTCTCAAAAAGCCTTTTTCAAAAGGCACTTAAAGAAACATATGCATAAGCACACATCCAGTGCAGTGGGAGTGTTTTAAGTCGGTCACTCAGGACAAGGATAGGATACTGAGATGGAGTCAGGGCCAGGGCTTATCTAGGGCAGCAGTCCCCAGCCTTTTCAGCACCAGGGACTGGTTTCATGGAAGACTATTTTTCCACAGACCAGGGTGAGAGGGAAATGGTTTCAGACGATTCAAGTGCATTATATCTATTGTGCATTTCATTTCTATTATTATTACATTGGAATATACAGTGAAATAATTATACAACTCACCATAATGTAGAATCAGTGGGAGCCCTGAGCTTGTTTACCTGCAGCTAGACAATCACATCTGGGGGTTATGGGAGAGCGGCACATCATCAGGCATTAGATAAGGAATGCACAACCTAGATCCCTCGCATGTGCAGTTTGAAATAGGGTTCACGCTCCTATGAGACTCTGATGCCACTGCTGATGTGACAGGAGGTGGAGCTCGGGCGGTAATGTGAGCGATGGGGAGCGGCTGTAAATACAGATGAAGCTTCGCTCACTCATCTGCCGCTCACGTCTTGCTGTGTGGCTGGGTTTCTAACAGGCCAGGGACCAGTACTAGTCTGTGGCCCAGGGGTTGGGGATCCCTGATCTAGGATATCTGCCTGCAAATCCTAATTAGACGTTCAATGATTTCGTCTGTGAGCTTCCTGGTGGTGAAAGAGACAGACACCTACTTAGTTAAAGCCACCGCAGTGACCATGAGTCCAGTGGTCCAGGGGGTGTTTGAGACCCCAAGAATTTTCCCGCATGGGCTCTTGTAAAAGGCCACCCTGGGGTGATAGAAAGGACAGTATCCCCAGTTCCAGTAACATACAGATAAGGATGGTTGGAAGCCAATTTCTTAAATGCCACTTCTTACAACACCCTCCCCTGAATCCAGAACTTCTGAGTAGGTGGGATTCCACTTCTCTGATGGGCTTTGCCTGGCATGTCCAAGGACTGGAATTGGAATCTATCCCAGGAGAGTCTTCCCTGAGTGTTTCTCCTCTCAGCTGAGCCCAGAGGCCACCTCTGTCTTCCCCTTCTCCTGAAGAACTTGAGGCCTAGATTCAAATAAAATCGGGGCACATGCCCAGAGATCTGCCAGGTTTTCCAAAGGAAGAGTTGGGCTCATTTAGCAGGAGACAGACATGATTGCTTGCTACTGCAGAACATTCCAGAACTGGGGCATGTCTCTTTCCCTTGGTAGGCCTTGGTTTCCCCATCTGTGGGACTAGGGTTGGAGACTGCCCCACCCCAGCCCCCATCCATCCTCTCAGCTCTTATTTCCTGCTTCCTGATACCCCAGCTCTCATGCAGGGATTTCACAGTAAACACATTGAAATGATATAGCTTAAGCCACATCAACTCCTTTTTCCTTATTTAGTAATCTGTTTTATTTAAGAGTTGTACATGCTATGTCCCCAGAGGCTATCCAGGTTCAGTCTCCCTGTAAGTGCCAGCAAGCTCTCCCAGCTAATTAAGTGTGATGGGCCTCCTGCCGTGGCCACTGATCCTTGAGTGGGTTTTCAGCTGAGAGGTACCTTGAAGAGGTAATCCTATAGTTAGCTGTCCAAACCAGGGGCACTATTAATAATTATACTGGGATGACAGGTCTAAACCATGCCTGTCTCAGGCAGCCTCATCACCTTTTTTTTTTTTTTTGAGACTGAGTCTCACTCAATCGCCCAGACTGGAGTGCAGTGGCATGATTTCGGCTCACTGCAACCTCTGCTTCCTGTGTTCCAGCAATTCTCCCTCAGCCTCCCAAGTAGCTGGGATTACAGACACATGTCACTGCGCCTGGCTCATTTTTGTACTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGG | GTAAAGTGAGGCCGAGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTAGTGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGCAGACTCACTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTGACATAGCTAGACTCTGTCTAAAAAACAAACAAACAAACAAAAAACAGAAAAGCATTGAGTTTAGTTTCTAGAAGAATGGTCATTTATTCAACCTGTATTCAGGGGCTTCCTGGAACACTAGTGCAAATGTGTGTGCCAGTGGGTACGGGGAGACTGGCCAGAAAAAAACTGAGGAGGAGGAGAGAAGGGGTGGCCAAGGATGGAGGGCCTGGTGAAGGGAGGAGAGGTGGGTGCAGAGTGGGGTGTCCGCCACTTTACTGTGGCAGGAAGGCAGGTGCACATAGGATGTGAAGATGTGGGTGGGCTTGCTGACCTTCGGGGAAAGAGGATGGGAGCTCCCGACAGGAAGTGTAAGGCTGGAGCCCAGGTCCTTGGAGGGGTGGAGTGGGAGCCCCCTTTGCAGATGGGGCAGAGGAGAAGGAAAGGACCATTGGCAGTAAGGGATGAGCAGGGGCTCGGGAGTTAGAAGACCAGCTCAGACCTGCACTGCCACTCCGGGCTGTACAGGCTAGTCACCTCCGCAGCCTCCGCGCCGCGCCACACCTGTGTGCTCAGGTACCTTTCTCAGATGCTGTGGTGAGAGTAAGTGGGTATTTTTTCTTACCCAAAGCCTAGCACCATCCAATAAATATTTGCCGAAATGGGGATGAGCTTTTCTGGCTTTTGCCCATCCTCTTATGAGGAAAAGAATGATAACTTTGTCAGTGCACAACCAGCACATCCCCAATGATGGGATGTCTCAGGGTCTCCTGTCTTTTCTACTTTGGTCTGAAGATGCATCATGTAGAAACGCATGTAGCTGCAAGTAACATGGCTCAAAGAAATAGAAGTTACCCCATACCACAAGAAATGGGGAGGTGCGTGACCCAGGCTGCCACATTGGCTTTGTGATGTGACCGAGGACGAGGGTCTTTGTTTCTGACCCTGCATTCTTGCTGTTAATTTGTTGCTTCATAGTCTTAAAATGGCCACTGTCACTCCAGATGTCAGGCCTGCATTCCAGGTAGGAGGAGGGAACAGCAGTCTTTCACCTGCTGGTCCTCCACCTTAATGTTTAGAAACGGAAGGCCTCGGCCGGGCGTGGTGGCTCATGCCTGTACTCCAAGTACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGCCTGGTGGTGCTTGCCTATAATCCCAGATACTTGGGAGACTGAGGCAGGAAAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGGGCCGAGATTGTGCTCCAGCCTAGGCAACAGAGTGAGTCTCCATCTCAAAAAAAAAAAAAAAAAAAAAGATGCGGGGAAGGCCTCTTAGCCGACTTTCCCTAACATCGCATTTCATTGGCTCTAGACATCCCTGACCTAAGAAGATAGGATTCCCATGACTAGTTTAAACCAGCCATGCACTCTCTGCCTGCTTCCTGACCAATCCAGGTTGGTGAGTAGGTGGAAGATCTGAACCAGGGCATGGGGAGGCAGGGACTGGATGGGCCGTGGGTGGCTCCCACGTGTGACTTCTCTGCTGTCCCTGTCCTTCCTTTCTTCCCTCAGAGGACACTGATGGAGGCGGCAGTGGAGAGCGTCTACGTGACCAGCGCTGGTGTCAGCCGCCTGGTGCAGGCGTATTACCAGCAAATCGGAAGGATCATGGAGGACCACGAGGAGAGAAAACTGCAGCACCTGAAGACCCTGCAGGGTACGGGACCCCCCTCAGGGAAGCCCCAGAAGAGACTGGCAATGTGTGCTTTTAGTTTGGGGCAGAATAGGATGTCAGATACTGTGAATTTTATTTTTGGGAATATAATTATTTCAGTGTTTTAATGTATTTATCCCGTGCTTTGTCTCAAAAAGCCTTTTTCAAAAGGCACTTAAAGAAACATATGCATAAGCACACATCCAGTGCAGTGGGAGTGTTTTAAGTCGGTCACTCAGGACAAGGATAGGATACTGAGATGGAGTCAGGGCCAGGGCTTATCTAGGGCAGCAGTCCCCAGCCTTTTCAGCACCAGGGACTGGTTTCATGGAAGACTATTTTTCCACAGACCAGGGTGAGAGGGAAATGGTTTCAGACGATTCAAGTGCATTATATCTATTGTGCATTTCATTTCTATTATTATTACATTGGAATATACAGTGAAATAATTATACAACTCACCATAATGTAGAATCAGTGGGAGCCCTGAGCTTGTTTACCTGCAGCTAGACAATCACATCTGGGGGTTATGGGAGAGCGGCACATCATCAGGCATTAGATAAGGAATGCACAACCTAGATCCCTCGCATGTGCAGTTTGAAATAGGGTTCACGCTCCTATGAGACTCTGATGCCACTGCTGATGTGACAGGAGGTGGAGCTCGGGCGGTAATGTGAGCGATGGGGAGCGGCTGTAAATACAGATGAAGCTTCGCTCACTCATCTGCCGCTCACGTCTTGCTGTGTGGCTGGGTTTCTAACAGGCCAGGGACCAGTACTAGTCTGTGGCCCAGGGGTTGGGGATCCCTGATCTAGGATATCTGCCTGCAAATCCTAATTAGACGTTCAATGATTTCGTCTGTGAGCTTCCTGGTGGTGAAAGAGACAGACACCTACTTAGTTAAAGCCACCGCAGTGACCATGAGTCCAGTGGTCCAGGGGGTGTTTGAGACCCCAAGAATTTTCCCGCATGGGCTCTTGTAAAAGGCCACCCTGGGGTGATAGAAAGGACAGTATCCCCAGTTCCAGTAACATACAGATAAGGATGGTTGGAAGCCAATTTCTTAAATGCCACTTCTTACAACACCCTCCCCTGAATCCAGAACTTCTGAGTAGGTGGGATTCCACTTCTCTGATGGGCTTTGCCTGGCATGTCCAAGGACTGGAATTGGAATCTATCCCAGGAGAGTCTTCCCTGAGTGTTTCTCCTCTCAGCTGAGCCCAGAGGCCACCTCTGTCTTCCCCTTCTCCTGAAGAACTTGAGGCCTAGATTCAAATAAAATCGGGGCACATGCCCAGAGATCTGCCAGGTTTTCCAAAGGAAGAGTTGGGCTCATTTAGCAGGAGACAGACATGATTGCTTGCTACTGCAGAACATTCCAGAACTGGGGCATGTCTCTTTCCCTTGGTAGGCCTTGGTTTCCCCATCTGTGGGACTAGGGTTGGAGACTGCCCCACCCCAGCCCCCATCCATCCTCTCAGCTCTTATTTCCTGCTTCCTGATACCCCAGCTCTCATGCAGGGATTTCACAGTAAACACATTGAAATGATATAGCTTAAGCCACATCAACTCCTTTTTCCTTATTTAGTAATCTGTTTTATTTAAGAGTTGTACATGCTATGTCCCCAGAGGCTATCCAGGTTCAGTCTCCCTGTAAGTGCCAGCAAGCTCTCCCAGCTAATTAAGTGTGATGGGCCTCCTGCCGTGGCCACTGATCCTTGAGTGGGTTTTCAGCTGAGAGGTACCTTGAAGAGGTAATCCTATAGTTAGCTGTCCAAACCAGGGGCACTATTAATAATTATACTGGGATGACAGGTCTAAACCATGCCTGTCTCAGGCAGCCTCATCACCTTTTTTTTTTTTTTTGAGACTGAGTCTCACTCAATCGCCCAGACTGGAGTGCAGTGGCATGATTTCGGCTCACTGCAACCTCTGCTTCCTGTGTTCCAGCAATTCTCCCTCAGCCTCCCAAGTAGCTGGGATTACAGACACATGTCACTGCGCCTGGCTCATTTTTGTACTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGN | benign | 79,882 |
Variant on chromosome 4, at position 5808188, affecting EVC (EvC ciliary complex subunit 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TGCAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCTTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGCGCACCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCCGGTCTCAAACTCCTGACCTCAGGTGATTCACCCGCCTTGGCCTCTCGGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCTGTCATTCTACTCGCTGTGTCCATGTGCACACATTATTGAGCTCCCACTCATAACTGAAAATATGAGATATTTCTGTTTCTGAGTTGTTTCACTTAAGAAAATGGCCTCCAGTTCCATCCACGTTGCTGTAAAAGACATGATTTCATTCTTTTTTATGGCTGAGTAGTATTCCATTGTGTATATGGACCACATTTTCCTTATCCAGTCCTCCATTGATGGACACTTAGGTTGATTCCATATCTTTGCTATTGTGAATAATGCAATGAACACACGAGAGCAGGTATCTTTCTGATATACTGATTTATTTTCCTTTGGGTAGATACCCAGTAGTGGGATTGCTGGATCAAATGGTCATTCTATTTTTAGTTCTTTGAGAAATCATGCTGTTTTCCATACAGGCTGCACTAATATACATTCCCACCAATGGTGCATAAGTGTTCCCTTTTCTCCACATCCTCACCAAGTGTTATAGTTTGTCTTTTTAGTGATAGCCATTCTAACTGGGGTAAGATGATATCTCCTTGTGGCTTTAACTTGCATTCCTCTGATGATGGGTGATGCTCAGAGTTTTTTCACATGCTTCTTGGCCATTTGTGTGTCTTTTTTTTAAGAACGTCTATTCATGTCCATAGGCACGGTTTCTAGTGGAACTCGGCCTCCTTTAAGGTGTGAGAGAGGCTGGAGTCTGGAGTGCTGGCCTCAGCTGTGCCAAATGAGTGATTTGTTTACTGTCCACCCTCCTTCCTGCCACTCAAACTAGAGCTCCTTGAGGACGGGGACTGTGGGTCTCTGTTCACACCTTTGTCTCAGAACCCAGCACAGCACCTGGCAGGCCAGAGATACTTTAATGAAGGAATGAGTGGATGGATGGAGGGAGGGAGGAATGGAGTGAGAGGTGGAGGGATGGATGACAGCGTCTTGTAGGGTGCACAGGAATTTGCTGGGCAAAAACAGAGAGGAAAGGTGTTACTGGCGGACAGAAGAGTGTGAGGTAGGAGCAGGGTGGCATTTTCACACCTCGGAGCACTCCACACGCACAGCTGCCTATCCATGCTAAAGGTGGCCCTGACTTCAGGTCTAGAAATTCGACCCCTTTCAGAAAATCTGCCCTAAAAGATGGGAAGGAGGCAGGCAGGGAGCAATAATGGAAACAGGGTGGCTGGATTTGGATGTTCCTGACTGCTTAGGAACGGAGGGCATCCAGAGAGGGAGGTGGGCCCTGGGGCTCAGGTACCCGGCCTCTGCTCCAGCTCTGTCCCCCTCTCTGAGAGTAACAGGCTGCCTGCCGTATTCGGGATTTCCCAGAGGCTGCATCCCAAGAAGCTTCTCATTTTACGAGGGAGGGGCCGGGGCAGTTCTGAGATTTAAACTCAGGGATGGGTAGCCGGTAGGCCTCTGGTCCTTTCAGGAGAATGCTCCTCCCTGGGGAAAAGATTGTTTTCTCATGAGAAGATGCCACCTTCTGCTCCGCCACTTCACAGACGTGTGTCCTGAGGGAGGCCCCCACCTCTCTGGGTTTCTTCCCCCCAGCTTTTCTACTCTGTCCTGCTGGTGTCATGAAGCTCCTCCGAAGATCACATGCAAAGTGTGTGGGCAGGACTCTCTAAACTCCCGTGTTGTAAAGGGCGTCCACTTTGATGGAGAGGCAGCCTGCCTGTGGGGACTGGAGCTGGGGCTGCTGTGAATGGTGCCCCCGATGGCCAGGCCCCTCTTGGGGCTCCCAGGGATCAGCAGCCTCCCTGCCTTCCTTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTGCCAGCCTGCCTGCCTTCCTCCCCCCAGGATGCTGTCCCAGCAGAAGAGGTTCCTGGCCCAGTTCCCAGTGCACCAGCAGATGCGTCTGCACGCCCAGCAGCAGCAGGCAGGAGTCATGGACCTTCTGGAAGCCCAGCTGGAGACCCAGCTACAGGTACAAGTTACAGAACTGGACCTTCCAAAAGCAGTGGTTTAAAGAGGAGCAGAAATAGCTGAAGCCAGCCTGTGACCACACGTCAGCCATGGGGACTGCACTTCCCTGCCTGTGGCATCGTTGACCCGCTGAGTCTCACCTGCTGAGGGTGTGTCGGCCTCGCCTTAGGACCCTGAGCCCCTGGAGGGCAAGTGTGGCCTGTGTGGATCCCTACAGCAGCTGCAGCATGCTAAGCAGGGCCAGGCCCTGAGCAGCTGGTCAGGCCTCATCTATGGAGCTGACAGAGAATTGAGCATTCCCCTGTGTGCGCATGGCCACCAGGAGGCTTCCGGTGTAATGGTGACCTCTGTGTCACTCAGGCAGTGTTGGCGATAGCTAAAGTTTACACTTTATTTACAGCAAACAGGAAGCTCAGCTCTCATGATATAAAGTGCATATTTCATTACAGAAAATCCCATTTGTGTGAGGTTATACAGTGAGATGTAAGGTGAGAGTATAAAGTGTGGCTAAGCAAAGTGGCTGCCTTTAAAAAAATCAAATCTTCCAGAATGGAAGCATTTAGCAGAGTGTTGGCCCTTTCAGAGTGTTCTCCACTGGCGATGGCAGTCGCAGAGTGACAGTGGTAAGAATACAGCAGTGGTGGCCGATAGGTACTTATTGAGGGTCTATGATAGATAGTCATGAGCTGAGAGCTTTGCACACACTTTCCAACAAAAGAGGTTACTGCTACTGTCCCCATTACAGATGGACAAACTGAGGCATGCACAGGTTACGTTGCTATCCAGGGTCACACAGTTAATGCATCATGGAATTCTGGTGTGTTTGTTTACACCACAGTGTTGGAAGTTTAGAGCCCAGCCTGTGGAGTCGGGCAGAAGTGAGTCCCATCCTATTCTGCTGCACCTGCTCCGGGCAGGTCACTGAGGCCCTCTGACCTCAGTGTACTCTGTCAACTGAAGACCGACGGCCAGTGTGAGTGAGGACCCACAGTTATGCAGCAGGAGCTGGTAGATGCCAGTGTGTCCTCCTGCTCCTCTCCTCTCTGGGATGTATGTTGGAAAATTCTCCTCCACACGGGAGACGTGGTCTTCAGTGGCCAGCCTCAAGTGTCAGAATTCACTCACGTGGAGAGGGATTTAGAGAAGTCAGAGGGAGGCCCAGCTGAATGCTCCTCTCTGCTTGCATTTCAGGAAGCTGAACAGAACTTCATCTCCGAGCTGGCAGCCTTGGCCCGAGTGCCCCTTGCTGAAAGCAAACTGTTGCCTGCTAAGCGTGGGCTGCTAGGTGAGTCACAGATGCTTGAGTTGCAGCGGGAAGCACTCTGGGCTGAGAGATACGGATTCTAGTTCCACACTGGCCACTAACTAGCTGTGTGACCTTAGGCATCGTGCCTAGGCTCTCTGGGCTTTTGTGACCTTGTCTGTAAATGAGCAGGCTTGGCTAGGCCACCCCTCAGGCCCACTTGCTCTCTAGCATTTGATAATTCCAGTTCTTGGGTCTGGTGTTCACTGGCTGTGTCTCCTAACTGACTCCATTTTTCCATCTGTAAAGTGGGGATAAGCCCTCCTCCCACCCTTGCCAGCGACAACTTCAGTGACATCACAGGATTTTTTAACCTGGTAATGAGAGAGTGACTCAGAAGGTGGTGTGAGAACACAGAGATCTACTGAAACAAAAGCTGTCACACTGGTGCTGGGTTTTCAGTTGCTTGCTGCTTCATTAAGTCTTCCAGTCAGCTGGGTAGAGTGGATACCCAGCGGGAGCCTAGCAGACTGGAGCTCAAGCCACAGCTCTGCCACTTCCTGGCTTGTGCAGGCTTGGGAGAGTACGTCACCTTCCCAGGCCTCAGTTTCCTCATTAGTTGAGTGGCTGCAATAGCATAAGATACCAAGCATACACTTGGCCCAC | TGCAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCTTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGCGCACCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCCGGTCTCAAACTCCTGACCTCAGGTGATTCACCCGCCTTGGCCTCTCGGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCTGTCATTCTACTCGCTGTGTCCATGTGCACACATTATTGAGCTCCCACTCATAACTGAAAATATGAGATATTTCTGTTTCTGAGTTGTTTCACTTAAGAAAATGGCCTCCAGTTCCATCCACGTTGCTGTAAAAGACATGATTTCATTCTTTTTTATGGCTGAGTAGTATTCCATTGTGTATATGGACCACATTTTCCTTATCCAGTCCTCCATTGATGGACACTTAGGTTGATTCCATATCTTTGCTATTGTGAATAATGCAATGAACACACGAGAGCAGGTATCTTTCTGATATACTGATTTATTTTCCTTTGGGTAGATACCCAGTAGTGGGATTGCTGGATCAAATGGTCATTCTATTTTTAGTTCTTTGAGAAATCATGCTGTTTTCCATACAGGCTGCACTAATATACATTCCCACCAATGGTGCATAAGTGTTCCCTTTTCTCCACATCCTCACCAAGTGTTATAGTTTGTCTTTTTAGTGATAGCCATTCTAACTGGGGTAAGATGATATCTCCTTGTGGCTTTAACTTGCATTCCTCTGATGATGGGTGATGCTCAGAGTTTTTTCACATGCTTCTTGGCCATTTGTGTGTCTTTTTTTTAAGAACGTCTATTCATGTCCATAGGCACGGTTTCTAGTGGAACTCGGCCTCCTTTAAGGTGTGAGAGAGGCTGGAGTCTGGAGTGCTGGCCTCAGCTGTGCCAAATGAGTGATTTGTTTACTGTCCACCCTCCTTCCTGCCACTCAAACTAGAGCTCCTTGAGGACGGGGACTGTGGGTCTCTGTTCACACCTTTGTCTCAGAACCCAGCACAGCACCTGGCAGGCCAGAGATACTTTAATGAAGGAATGAGTGGATGGATGGAGGGAGGGAGGAATGGAGTGAGAGGTGGAGGGATGGATGACAGCGTCTTGTAGGGTGCACAGGAATTTGCTGGGCAAAAACAGAGAGGAAAGGTGTTACTGGCGGACAGAAGAGTGTGAGGTAGGAGCAGGGTGGCATTTTCACACCTCGGAGCACTCCACACGCACAGCTGCCTATCCATGCTAAAGGTGGCCCTGACTTCAGGTCTAGAAATTCGACCCCTTTCAGAAAATCTGCCCTAAAAGATGGGAAGGAGGCAGGCAGGGAGCAATAATGGAAACAGGGTGGCTGGATTTGGATGTTCCTGACTGCTTAGGAACGGAGGGCATCCAGAGAGGGAGGTGGGCCCTGGGGCTCAGGTACCCGGCCTCTGCTCCAGCTCTGTCCCCCTCTCTGAGAGTAACAGGCTGCCTGCCGTATTCGGGATTTCCCAGAGGCTGCATCCCAAGAAGCTTCTCATTTTACGAGGGAGGGGCCGGGGCAGTTCTGAGATTTAAACTCAGGGATGGGTAGCCGGTAGGCCTCTGGTCCTTTCAGGAGAATGCTCCTCCCTGGGGAAAAGATTGTTTTCTCATGAGAAGATGCCACCTTCTGCTCCGCCACTTCACAGACGTGTGTCCTGAGGGAGGCCCCCACCTCTCTGGGTTTCTTCCCCCCAGCTTTTCTACTCTGTCCTGCTGGTGTCATGAAGCTCCTCCGAAGATCACATGCAAAGTGTGTGGGCAGGACTCTCTAAACTCCCGTGTTGTAAAGGGCGTCCACTTTGATGGAGAGGCAGCCTGCCTGTGGGGACTGGAGCTGGGGCTGCTGTGAATGGTGCCCCCGATGGCCAGGCCCCTCTTGGGGCTCCCAGGGATCAGCAGCCTCCCTGCCTTCCTTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTGCCAGCCTGCCTGCCCCCCTCCCCCCAGGATGCTGTCCCAGCAGAAGAGGTTCCTGGCCCAGTTCCCAGTGCACCAGCAGATGCGTCTGCACGCCCAGCAGCAGCAGGCAGGAGTCATGGACCTTCTGGAAGCCCAGCTGGAGACCCAGCTACAGGTACAAGTTACAGAACTGGACCTTCCAAAAGCAGTGGTTTAAAGAGGAGCAGAAATAGCTGAAGCCAGCCTGTGACCACACGTCAGCCATGGGGACTGCACTTCCCTGCCTGTGGCATCGTTGACCCGCTGAGTCTCACCTGCTGAGGGTGTGTCGGCCTCGCCTTAGGACCCTGAGCCCCTGGAGGGCAAGTGTGGCCTGTGTGGATCCCTACAGCAGCTGCAGCATGCTAAGCAGGGCCAGGCCCTGAGCAGCTGGTCAGGCCTCATCTATGGAGCTGACAGAGAATTGAGCATTCCCCTGTGTGCGCATGGCCACCAGGAGGCTTCCGGTGTAATGGTGACCTCTGTGTCACTCAGGCAGTGTTGGCGATAGCTAAAGTTTACACTTTATTTACAGCAAACAGGAAGCTCAGCTCTCATGATATAAAGTGCATATTTCATTACAGAAAATCCCATTTGTGTGAGGTTATACAGTGAGATGTAAGGTGAGAGTATAAAGTGTGGCTAAGCAAAGTGGCTGCCTTTAAAAAAATCAAATCTTCCAGAATGGAAGCATTTAGCAGAGTGTTGGCCCTTTCAGAGTGTTCTCCACTGGCGATGGCAGTCGCAGAGTGACAGTGGTAAGAATACAGCAGTGGTGGCCGATAGGTACTTATTGAGGGTCTATGATAGATAGTCATGAGCTGAGAGCTTTGCACACACTTTCCAACAAAAGAGGTTACTGCTACTGTCCCCATTACAGATGGACAAACTGAGGCATGCACAGGTTACGTTGCTATCCAGGGTCACACAGTTAATGCATCATGGAATTCTGGTGTGTTTGTTTACACCACAGTGTTGGAAGTTTAGAGCCCAGCCTGTGGAGTCGGGCAGAAGTGAGTCCCATCCTATTCTGCTGCACCTGCTCCGGGCAGGTCACTGAGGCCCTCTGACCTCAGTGTACTCTGTCAACTGAAGACCGACGGCCAGTGTGAGTGAGGACCCACAGTTATGCAGCAGGAGCTGGTAGATGCCAGTGTGTCCTCCTGCTCCTCTCCTCTCTGGGATGTATGTTGGAAAATTCTCCTCCACACGGGAGACGTGGTCTTCAGTGGCCAGCCTCAAGTGTCAGAATTCACTCACGTGGAGAGGGATTTAGAGAAGTCAGAGGGAGGCCCAGCTGAATGCTCCTCTCTGCTTGCATTTCAGGAAGCTGAACAGAACTTCATCTCCGAGCTGGCAGCCTTGGCCCGAGTGCCCCTTGCTGAAAGCAAACTGTTGCCTGCTAAGCGTGGGCTGCTAGGTGAGTCACAGATGCTTGAGTTGCAGCGGGAAGCACTCTGGGCTGAGAGATACGGATTCTAGTTCCACACTGGCCACTAACTAGCTGTGTGACCTTAGGCATCGTGCCTAGGCTCTCTGGGCTTTTGTGACCTTGTCTGTAAATGAGCAGGCTTGGCTAGGCCACCCCTCAGGCCCACTTGCTCTCTAGCATTTGATAATTCCAGTTCTTGGGTCTGGTGTTCACTGGCTGTGTCTCCTAACTGACTCCATTTTTCCATCTGTAAAGTGGGGATAAGCCCTCCTCCCACCCTTGCCAGCGACAACTTCAGTGACATCACAGGATTTTTTAACCTGGTAATGAGAGAGTGACTCAGAAGGTGGTGTGAGAACACAGAGATCTACTGAAACAAAAGCTGTCACACTGGTGCTGGGTTTTCAGTTGCTTGCTGCTTCATTAAGTCTTCCAGTCAGCTGGGTAGAGTGGATACCCAGCGGGAGCCTAGCAGACTGGAGCTCAAGCCACAGCTCTGCCACTTCCTGGCTTGTGCAGGCTTGGGAGAGTACGTCACCTTCCCAGGCCTCAGTTTCCTCATTAGTTGAGTGGCTGCAATAGCATAAGATACCAAGCATACACTTGGCCCAC | benign | 79,895 |
Is the genetic mutation found on chromosome 4 at position 5809610, within the gene EVC (EvC ciliary complex subunit 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | GCTTAGGAACGGAGGGCATCCAGAGAGGGAGGTGGGCCCTGGGGCTCAGGTACCCGGCCTCTGCTCCAGCTCTGTCCCCCTCTCTGAGAGTAACAGGCTGCCTGCCGTATTCGGGATTTCCCAGAGGCTGCATCCCAAGAAGCTTCTCATTTTACGAGGGAGGGGCCGGGGCAGTTCTGAGATTTAAACTCAGGGATGGGTAGCCGGTAGGCCTCTGGTCCTTTCAGGAGAATGCTCCTCCCTGGGGAAAAGATTGTTTTCTCATGAGAAGATGCCACCTTCTGCTCCGCCACTTCACAGACGTGTGTCCTGAGGGAGGCCCCCACCTCTCTGGGTTTCTTCCCCCCAGCTTTTCTACTCTGTCCTGCTGGTGTCATGAAGCTCCTCCGAAGATCACATGCAAAGTGTGTGGGCAGGACTCTCTAAACTCCCGTGTTGTAAAGGGCGTCCACTTTGATGGAGAGGCAGCCTGCCTGTGGGGACTGGAGCTGGGGCTGCTGTGAATGGTGCCCCCGATGGCCAGGCCCCTCTTGGGGCTCCCAGGGATCAGCAGCCTCCCTGCCTTCCTTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTGCCAGCCTGCCTGCCTTCCTCCCCCCAGGATGCTGTCCCAGCAGAAGAGGTTCCTGGCCCAGTTCCCAGTGCACCAGCAGATGCGTCTGCACGCCCAGCAGCAGCAGGCAGGAGTCATGGACCTTCTGGAAGCCCAGCTGGAGACCCAGCTACAGGTACAAGTTACAGAACTGGACCTTCCAAAAGCAGTGGTTTAAAGAGGAGCAGAAATAGCTGAAGCCAGCCTGTGACCACACGTCAGCCATGGGGACTGCACTTCCCTGCCTGTGGCATCGTTGACCCGCTGAGTCTCACCTGCTGAGGGTGTGTCGGCCTCGCCTTAGGACCCTGAGCCCCTGGAGGGCAAGTGTGGCCTGTGTGGATCCCTACAGCAGCTGCAGCATGCTAAGCAGGGCCAGGCCCTGAGCAGCTGGTCAGGCCTCATCTATGGAGCTGACAGAGAATTGAGCATTCCCCTGTGTGCGCATGGCCACCAGGAGGCTTCCGGTGTAATGGTGACCTCTGTGTCACTCAGGCAGTGTTGGCGATAGCTAAAGTTTACACTTTATTTACAGCAAACAGGAAGCTCAGCTCTCATGATATAAAGTGCATATTTCATTACAGAAAATCCCATTTGTGTGAGGTTATACAGTGAGATGTAAGGTGAGAGTATAAAGTGTGGCTAAGCAAAGTGGCTGCCTTTAAAAAAATCAAATCTTCCAGAATGGAAGCATTTAGCAGAGTGTTGGCCCTTTCAGAGTGTTCTCCACTGGCGATGGCAGTCGCAGAGTGACAGTGGTAAGAATACAGCAGTGGTGGCCGATAGGTACTTATTGAGGGTCTATGATAGATAGTCATGAGCTGAGAGCTTTGCACACACTTTCCAACAAAAGAGGTTACTGCTACTGTCCCCATTACAGATGGACAAACTGAGGCATGCACAGGTTACGTTGCTATCCAGGGTCACACAGTTAATGCATCATGGAATTCTGGTGTGTTTGTTTACACCACAGTGTTGGAAGTTTAGAGCCCAGCCTGTGGAGTCGGGCAGAAGTGAGTCCCATCCTATTCTGCTGCACCTGCTCCGGGCAGGTCACTGAGGCCCTCTGACCTCAGTGTACTCTGTCAACTGAAGACCGACGGCCAGTGTGAGTGAGGACCCACAGTTATGCAGCAGGAGCTGGTAGATGCCAGTGTGTCCTCCTGCTCCTCTCCTCTCTGGGATGTATGTTGGAAAATTCTCCTCCACACGGGAGACGTGGTCTTCAGTGGCCAGCCTCAAGTGTCAGAATTCACTCACGTGGAGAGGGATTTAGAGAAGTCAGAGGGAGGCCCAGCTGAATGCTCCTCTCTGCTTGCATTTCAGGAAGCTGAACAGAACTTCATCTCCGAGCTGGCAGCCTTGGCCCGAGTGCCCCTTGCTGAAAGCAAACTGTTGCCTGCTAAGCGTGGGCTGCTAGGTGAGTCACAGATGCTTGAGTTGCAGCGGGAAGCACTCTGGGCTGAGAGATACGGATTCTAGTTCCACACTGGCCACTAACTAGCTGTGTGACCTTAGGCATCGTGCCTAGGCTCTCTGGGCTTTTGTGACCTTGTCTGTAAATGAGCAGGCTTGGCTAGGCCACCCCTCAGGCCCACTTGCTCTCTAGCATTTGATAATTCCAGTTCTTGGGTCTGGTGTTCACTGGCTGTGTCTCCTAACTGACTCCATTTTTCCATCTGTAAAGTGGGGATAAGCCCTCCTCCCACCCTTGCCAGCGACAACTTCAGTGACATCACAGGATTTTTTAACCTGGTAATGAGAGAGTGACTCAGAAGGTGGTGTGAGAACACAGAGATCTACTGAAACAAAAGCTGTCACACTGGTGCTGGGTTTTCAGTTGCTTGCTGCTTCATTAAGTCTTCCAGTCAGCTGGGTAGAGTGGATACCCAGCGGGAGCCTAGCAGACTGGAGCTCAAGCCACAGCTCTGCCACTTCCTGGCTTGTGCAGGCTTGGGAGAGTACGTCACCTTCCCAGGCCTCAGTTTCCTCATTAGTTGAGTGGCTGCAATAGCATAAGATACCAAGCATACACTTGGCCCACACAACATGCTCAAAAATGTCAGGCTGGGTTGGTGTGAGGCTGCAAGAAGTTGTCACTTGTCTAAAGTCACAGAGCCATGCCTGGGTTCATCTGTCCTCTACAGAGAAGCCCCTAAGGACTAAAAGGAAGAAGCCCCTGCCCCAGGAAAGAGGGGACCTGGGGGTGCCCAACAATGAGGACCTTGCCTCCGGGGACCAGACCTCAGGCTCACTCAGGTATGACTGGGCCCCGGACCTGTTGCCTGTGGCTGGGTTTGGTAAATGCACTCAGCTGCTGTGTGCCAAAAGTCAGGGCAGGAAAATCATCAGTCCCCTCAGAGGCATTAAATGTGAAGGTTCAAGAAATGACAGATATGAACGTAATTTGTGGGCAGTAAGCCATGATGATACCAGGGGTGCCACATGGCTGTTACCCTTCCTGTTTGTGTCTCATTTGGCCAGATGAGCCTTGACCTACCTCCACACCCCATTGGCATCCAGCCTGAAGTGTTGGGCAGTCCCTTCTTTGACCAGGGATGGCTGTGGTCATGGCACTTGGATGACCTCCTACCCAAGGAGGGAAACGGGTTTTATTGGTTTCTTAACAACCCATGTCAAAGTAAAAATTGTTTTGATCACCTTTGGCTGCATTTTCATTTAATCCGATTGGGTAAGTTATGGCATCATGATGGGCATGGAGTCAGCGTTCTAACTGGCTGCCTTTCTTCTCTGTTTTAAGCAGCAAAAGGCTGAGTCAGCAAGAAAGTGAAGCTGGGGACAGTGGGAACTCAAAGAAGATGCTAAAGAGAAGAAGCAACTTGTAGTTTAAGACCAGTCGGTGGGACAAGACCTGAAGCCCTGGGTCTGGGTGTGAATTCCACCTTCCCTCCTGCAGTGCTGAGAGGCAGCGAGGACGGAGAGGACAGCGGCATCTCTAGGCTCTTCTGAGAGGGACAGAGAAAGAATAGAAATGTGCCCTAAAAGCATAAATGAGTATCACCTGAGAAAATTAGGCATTCCCGTCTTGGAAACACGTCTCTGTGAGTTTGCATTTCATTTGGCTTGGAGCCCTGGCTCGATGCCTCATGGATCTTTCTCCCCAAGGAGGGACGTCTTGAGGGGTCCGAGCCTCAGGCCAAGGACCCCTGATGCAGACTCTGGAATCCCTGGCCCAAAGGCCTGTCTGGGCCCATCTGGGGCTGAGGACACACAGATACATAATGACACCTGCAGAAATGTATTCTCTGAGGACACTTAGAATATGAGGAAGAGGGTGTGGCCCAACCCTCACTTCACCTGGGGAGGGGCTTCTTCCGGACAGTAGACACCCTGCCCGTGCAGAGAGATGTCATGGGGGCACCTGCTCTCCCTGATAGATGCTGAGAGCATCCAGAAACTTCCAGACCAGCCCTCTCACCACACCCAGAAGAGGCCTTTCCCATCT | GCTTAGGAACGGAGGGCATCCAGAGAGGGAGGTGGGCCCTGGGGCTCAGGTACCCGGCCTCTGCTCCAGCTCTGTCCCCCTCTCTGAGAGTAACAGGCTGCCTGCCGTATTCGGGATTTCCCAGAGGCTGCATCCCAAGAAGCTTCTCATTTTACGAGGGAGGGGCCGGGGCAGTTCTGAGATTTAAACTCAGGGATGGGTAGCCGGTAGGCCTCTGGTCCTTTCAGGAGAATGCTCCTCCCTGGGGAAAAGATTGTTTTCTCATGAGAAGATGCCACCTTCTGCTCCGCCACTTCACAGACGTGTGTCCTGAGGGAGGCCCCCACCTCTCTGGGTTTCTTCCCCCCAGCTTTTCTACTCTGTCCTGCTGGTGTCATGAAGCTCCTCCGAAGATCACATGCAAAGTGTGTGGGCAGGACTCTCTAAACTCCCGTGTTGTAAAGGGCGTCCACTTTGATGGAGAGGCAGCCTGCCTGTGGGGACTGGAGCTGGGGCTGCTGTGAATGGTGCCCCCGATGGCCAGGCCCCTCTTGGGGCTCCCAGGGATCAGCAGCCTCCCTGCCTTCCTTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTGCCAGCCTGCCTGCCTTCCTCCCCCCAGGATGCTGTCCCAGCAGAAGAGGTTCCTGGCCCAGTTCCCAGTGCACCAGCAGATGCGTCTGCACGCCCAGCAGCAGCAGGCAGGAGTCATGGACCTTCTGGAAGCCCAGCTGGAGACCCAGCTACAGGTACAAGTTACAGAACTGGACCTTCCAAAAGCAGTGGTTTAAAGAGGAGCAGAAATAGCTGAAGCCAGCCTGTGACCACACGTCAGCCATGGGGACTGCACTTCCCTGCCTGTGGCATCGTTGACCCGCTGAGTCTCACCTGCTGAGGGTGTGTCGGCCTCGCCTTAGGACCCTGAGCCCCTGGAGGGCAAGTGTGGCCTGTGTGGATCCCTACAGCAGCTGCAGCATGCTAAGCAGGGCCAGGCCCTGAGCAGCTGGTCAGGCCTCATCTATGGAGCTGACAGAGAATTGAGCATTCCCCTGTGTGCGCATGGCCACCAGGAGGCTTCCGGTGTAATGGTGACCTCTGTGTCACTCAGGCAGTGTTGGCGATAGCTAAAGTTTACACTTTATTTACAGCAAACAGGAAGCTCAGCTCTCATGATATAAAGTGCATATTTCATTACAGAAAATCCCATTTGTGTGAGGTTATACAGTGAGATGTAAGGTGAGAGTATAAAGTGTGGCTAAGCAAAGTGGCTGCCTTTAAAAAAATCAAATCTTCCAGAATGGAAGCATTTAGCAGAGTGTTGGCCCTTTCAGAGTGTTCTCCACTGGCGATGGCAGTCGCAGAGTGACAGTGGTAAGAATACAGCAGTGGTGGCCGATAGGTACTTATTGAGGGTCTATGATAGATAGTCATGAGCTGAGAGCTTTGCACACACTTTCCAACAAAAGAGGTTACTGCTACTGTCCCCATTACAGATGGACAAACTGAGGCATGCACAGGTTACGTTGCTATCCAGGGTCACACAGTTAATGCATCATGGAATTCTGGTGTGTTTGTTTACACCACAGTGTTGGAAGTTTAGAGCCCAGCCTGTGGAGTCGGGCAGAAGTGAGTCCCATCCTATTCTGCTGCACCTGCTCCGGGCAGGTCACTGAGGCCCTCTGACCTCAGTGTACTCTGTCAACTGAAGACCGACGGCCAGTGTGAGTGAGGACCCACAGTTATGCAGCAGGAGCTGGTAGATGCCAGTGTGTCCTCCTGCTCCTCTCCTCTCTGGGATGTATGTTGGAAAATTCTCCTCCACACGGGAGACGTGGTCTTCAGTGGCCAGCCTCAAGTGTCAGAATTCACTCACGTGGAGAGGGATTTAGAGAAGTCAGAGGGAGGCCCAGCTGAATGCTCCTCTCTGCTTGCATTTCAGGAAGCTGAACAGAACTTCATCTCCGAGCTGGCAGCCTTGGCCCGAGTGCCCCTTGCTGAAAGCAAACTGTTGCCTGCTAAGCGTGGGCTGCTAGTGAGTCACAGATGCTTGAGTTGCAGCGGGAAGCACTCTGGGCTGAGAGATACGGATTCTAGTTCCACACTGGCCACTAACTAGCTGTGTGACCTTAGGCATCGTGCCTAGGCTCTCTGGGCTTTTGTGACCTTGTCTGTAAATGAGCAGGCTTGGCTAGGCCACCCCTCAGGCCCACTTGCTCTCTAGCATTTGATAATTCCAGTTCTTGGGTCTGGTGTTCACTGGCTGTGTCTCCTAACTGACTCCATTTTTCCATCTGTAAAGTGGGGATAAGCCCTCCTCCCACCCTTGCCAGCGACAACTTCAGTGACATCACAGGATTTTTTAACCTGGTAATGAGAGAGTGACTCAGAAGGTGGTGTGAGAACACAGAGATCTACTGAAACAAAAGCTGTCACACTGGTGCTGGGTTTTCAGTTGCTTGCTGCTTCATTAAGTCTTCCAGTCAGCTGGGTAGAGTGGATACCCAGCGGGAGCCTAGCAGACTGGAGCTCAAGCCACAGCTCTGCCACTTCCTGGCTTGTGCAGGCTTGGGAGAGTACGTCACCTTCCCAGGCCTCAGTTTCCTCATTAGTTGAGTGGCTGCAATAGCATAAGATACCAAGCATACACTTGGCCCACACAACATGCTCAAAAATGTCAGGCTGGGTTGGTGTGAGGCTGCAAGAAGTTGTCACTTGTCTAAAGTCACAGAGCCATGCCTGGGTTCATCTGTCCTCTACAGAGAAGCCCCTAAGGACTAAAAGGAAGAAGCCCCTGCCCCAGGAAAGAGGGGACCTGGGGGTGCCCAACAATGAGGACCTTGCCTCCGGGGACCAGACCTCAGGCTCACTCAGGTATGACTGGGCCCCGGACCTGTTGCCTGTGGCTGGGTTTGGTAAATGCACTCAGCTGCTGTGTGCCAAAAGTCAGGGCAGGAAAATCATCAGTCCCCTCAGAGGCATTAAATGTGAAGGTTCAAGAAATGACAGATATGAACGTAATTTGTGGGCAGTAAGCCATGATGATACCAGGGGTGCCACATGGCTGTTACCCTTCCTGTTTGTGTCTCATTTGGCCAGATGAGCCTTGACCTACCTCCACACCCCATTGGCATCCAGCCTGAAGTGTTGGGCAGTCCCTTCTTTGACCAGGGATGGCTGTGGTCATGGCACTTGGATGACCTCCTACCCAAGGAGGGAAACGGGTTTTATTGGTTTCTTAACAACCCATGTCAAAGTAAAAATTGTTTTGATCACCTTTGGCTGCATTTTCATTTAATCCGATTGGGTAAGTTATGGCATCATGATGGGCATGGAGTCAGCGTTCTAACTGGCTGCCTTTCTTCTCTGTTTTAAGCAGCAAAAGGCTGAGTCAGCAAGAAAGTGAAGCTGGGGACAGTGGGAACTCAAAGAAGATGCTAAAGAGAAGAAGCAACTTGTAGTTTAAGACCAGTCGGTGGGACAAGACCTGAAGCCCTGGGTCTGGGTGTGAATTCCACCTTCCCTCCTGCAGTGCTGAGAGGCAGCGAGGACGGAGAGGACAGCGGCATCTCTAGGCTCTTCTGAGAGGGACAGAGAAAGAATAGAAATGTGCCCTAAAAGCATAAATGAGTATCACCTGAGAAAATTAGGCATTCCCGTCTTGGAAACACGTCTCTGTGAGTTTGCATTTCATTTGGCTTGGAGCCCTGGCTCGATGCCTCATGGATCTTTCTCCCCAAGGAGGGACGTCTTGAGGGGTCCGAGCCTCAGGCCAAGGACCCCTGATGCAGACTCTGGAATCCCTGGCCCAAAGGCCTGTCTGGGCCCATCTGGGGCTGAGGACACACAGATACATAATGACACCTGCAGAAATGTATTCTCTGAGGACACTTAGAATATGAGGAAGAGGGTGTGGCCCAACCCTCACTTCACCTGGGGAGGGGCTTCTTCCGGACAGTAGACACCCTGCCCGTGCAGAGAGATGTCATGGGGGCACCTGCTCTCCCTGATAGATGCTGAGAGCATCCAGAAACTTCCAGACCAGCCCTCTCACCACACCCAGAAGAGGCCTTTCCCATCTN | pathogenic | 79,901 |
Does the variant on chromosome 4 at location 5809623 affecting gene EVC (EvC ciliary complex subunit 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GGGCATCCAGAGAGGGAGGTGGGCCCTGGGGCTCAGGTACCCGGCCTCTGCTCCAGCTCTGTCCCCCTCTCTGAGAGTAACAGGCTGCCTGCCGTATTCGGGATTTCCCAGAGGCTGCATCCCAAGAAGCTTCTCATTTTACGAGGGAGGGGCCGGGGCAGTTCTGAGATTTAAACTCAGGGATGGGTAGCCGGTAGGCCTCTGGTCCTTTCAGGAGAATGCTCCTCCCTGGGGAAAAGATTGTTTTCTCATGAGAAGATGCCACCTTCTGCTCCGCCACTTCACAGACGTGTGTCCTGAGGGAGGCCCCCACCTCTCTGGGTTTCTTCCCCCCAGCTTTTCTACTCTGTCCTGCTGGTGTCATGAAGCTCCTCCGAAGATCACATGCAAAGTGTGTGGGCAGGACTCTCTAAACTCCCGTGTTGTAAAGGGCGTCCACTTTGATGGAGAGGCAGCCTGCCTGTGGGGACTGGAGCTGGGGCTGCTGTGAATGGTGCCCCCGATGGCCAGGCCCCTCTTGGGGCTCCCAGGGATCAGCAGCCTCCCTGCCTTCCTTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTGCCAGCCTGCCTGCCTTCCTCCCCCCAGGATGCTGTCCCAGCAGAAGAGGTTCCTGGCCCAGTTCCCAGTGCACCAGCAGATGCGTCTGCACGCCCAGCAGCAGCAGGCAGGAGTCATGGACCTTCTGGAAGCCCAGCTGGAGACCCAGCTACAGGTACAAGTTACAGAACTGGACCTTCCAAAAGCAGTGGTTTAAAGAGGAGCAGAAATAGCTGAAGCCAGCCTGTGACCACACGTCAGCCATGGGGACTGCACTTCCCTGCCTGTGGCATCGTTGACCCGCTGAGTCTCACCTGCTGAGGGTGTGTCGGCCTCGCCTTAGGACCCTGAGCCCCTGGAGGGCAAGTGTGGCCTGTGTGGATCCCTACAGCAGCTGCAGCATGCTAAGCAGGGCCAGGCCCTGAGCAGCTGGTCAGGCCTCATCTATGGAGCTGACAGAGAATTGAGCATTCCCCTGTGTGCGCATGGCCACCAGGAGGCTTCCGGTGTAATGGTGACCTCTGTGTCACTCAGGCAGTGTTGGCGATAGCTAAAGTTTACACTTTATTTACAGCAAACAGGAAGCTCAGCTCTCATGATATAAAGTGCATATTTCATTACAGAAAATCCCATTTGTGTGAGGTTATACAGTGAGATGTAAGGTGAGAGTATAAAGTGTGGCTAAGCAAAGTGGCTGCCTTTAAAAAAATCAAATCTTCCAGAATGGAAGCATTTAGCAGAGTGTTGGCCCTTTCAGAGTGTTCTCCACTGGCGATGGCAGTCGCAGAGTGACAGTGGTAAGAATACAGCAGTGGTGGCCGATAGGTACTTATTGAGGGTCTATGATAGATAGTCATGAGCTGAGAGCTTTGCACACACTTTCCAACAAAAGAGGTTACTGCTACTGTCCCCATTACAGATGGACAAACTGAGGCATGCACAGGTTACGTTGCTATCCAGGGTCACACAGTTAATGCATCATGGAATTCTGGTGTGTTTGTTTACACCACAGTGTTGGAAGTTTAGAGCCCAGCCTGTGGAGTCGGGCAGAAGTGAGTCCCATCCTATTCTGCTGCACCTGCTCCGGGCAGGTCACTGAGGCCCTCTGACCTCAGTGTACTCTGTCAACTGAAGACCGACGGCCAGTGTGAGTGAGGACCCACAGTTATGCAGCAGGAGCTGGTAGATGCCAGTGTGTCCTCCTGCTCCTCTCCTCTCTGGGATGTATGTTGGAAAATTCTCCTCCACACGGGAGACGTGGTCTTCAGTGGCCAGCCTCAAGTGTCAGAATTCACTCACGTGGAGAGGGATTTAGAGAAGTCAGAGGGAGGCCCAGCTGAATGCTCCTCTCTGCTTGCATTTCAGGAAGCTGAACAGAACTTCATCTCCGAGCTGGCAGCCTTGGCCCGAGTGCCCCTTGCTGAAAGCAAACTGTTGCCTGCTAAGCGTGGGCTGCTAGGTGAGTCACAGATGCTTGAGTTGCAGCGGGAAGCACTCTGGGCTGAGAGATACGGATTCTAGTTCCACACTGGCCACTAACTAGCTGTGTGACCTTAGGCATCGTGCCTAGGCTCTCTGGGCTTTTGTGACCTTGTCTGTAAATGAGCAGGCTTGGCTAGGCCACCCCTCAGGCCCACTTGCTCTCTAGCATTTGATAATTCCAGTTCTTGGGTCTGGTGTTCACTGGCTGTGTCTCCTAACTGACTCCATTTTTCCATCTGTAAAGTGGGGATAAGCCCTCCTCCCACCCTTGCCAGCGACAACTTCAGTGACATCACAGGATTTTTTAACCTGGTAATGAGAGAGTGACTCAGAAGGTGGTGTGAGAACACAGAGATCTACTGAAACAAAAGCTGTCACACTGGTGCTGGGTTTTCAGTTGCTTGCTGCTTCATTAAGTCTTCCAGTCAGCTGGGTAGAGTGGATACCCAGCGGGAGCCTAGCAGACTGGAGCTCAAGCCACAGCTCTGCCACTTCCTGGCTTGTGCAGGCTTGGGAGAGTACGTCACCTTCCCAGGCCTCAGTTTCCTCATTAGTTGAGTGGCTGCAATAGCATAAGATACCAAGCATACACTTGGCCCACACAACATGCTCAAAAATGTCAGGCTGGGTTGGTGTGAGGCTGCAAGAAGTTGTCACTTGTCTAAAGTCACAGAGCCATGCCTGGGTTCATCTGTCCTCTACAGAGAAGCCCCTAAGGACTAAAAGGAAGAAGCCCCTGCCCCAGGAAAGAGGGGACCTGGGGGTGCCCAACAATGAGGACCTTGCCTCCGGGGACCAGACCTCAGGCTCACTCAGGTATGACTGGGCCCCGGACCTGTTGCCTGTGGCTGGGTTTGGTAAATGCACTCAGCTGCTGTGTGCCAAAAGTCAGGGCAGGAAAATCATCAGTCCCCTCAGAGGCATTAAATGTGAAGGTTCAAGAAATGACAGATATGAACGTAATTTGTGGGCAGTAAGCCATGATGATACCAGGGGTGCCACATGGCTGTTACCCTTCCTGTTTGTGTCTCATTTGGCCAGATGAGCCTTGACCTACCTCCACACCCCATTGGCATCCAGCCTGAAGTGTTGGGCAGTCCCTTCTTTGACCAGGGATGGCTGTGGTCATGGCACTTGGATGACCTCCTACCCAAGGAGGGAAACGGGTTTTATTGGTTTCTTAACAACCCATGTCAAAGTAAAAATTGTTTTGATCACCTTTGGCTGCATTTTCATTTAATCCGATTGGGTAAGTTATGGCATCATGATGGGCATGGAGTCAGCGTTCTAACTGGCTGCCTTTCTTCTCTGTTTTAAGCAGCAAAAGGCTGAGTCAGCAAGAAAGTGAAGCTGGGGACAGTGGGAACTCAAAGAAGATGCTAAAGAGAAGAAGCAACTTGTAGTTTAAGACCAGTCGGTGGGACAAGACCTGAAGCCCTGGGTCTGGGTGTGAATTCCACCTTCCCTCCTGCAGTGCTGAGAGGCAGCGAGGACGGAGAGGACAGCGGCATCTCTAGGCTCTTCTGAGAGGGACAGAGAAAGAATAGAAATGTGCCCTAAAAGCATAAATGAGTATCACCTGAGAAAATTAGGCATTCCCGTCTTGGAAACACGTCTCTGTGAGTTTGCATTTCATTTGGCTTGGAGCCCTGGCTCGATGCCTCATGGATCTTTCTCCCCAAGGAGGGACGTCTTGAGGGGTCCGAGCCTCAGGCCAAGGACCCCTGATGCAGACTCTGGAATCCCTGGCCCAAAGGCCTGTCTGGGCCCATCTGGGGCTGAGGACACACAGATACATAATGACACCTGCAGAAATGTATTCTCTGAGGACACTTAGAATATGAGGAAGAGGGTGTGGCCCAACCCTCACTTCACCTGGGGAGGGGCTTCTTCCGGACAGTAGACACCCTGCCCGTGCAGAGAGATGTCATGGGGGCACCTGCTCTCCCTGATAGATGCTGAGAGCATCCAGAAACTTCCAGACCAGCCCTCTCACCACACCCAGAAGAGGCCTTTCCCATCTGGAGAGAAGCTTC 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GGGCATCCAGAGAGGGAGGTGGGCCCTGGGGCTCAGGTACCCGGCCTCTGCTCCAGCTCTGTCCCCCTCTCTGAGAGTAACAGGCTGCCTGCCGTATTCGGGATTTCCCAGAGGCTGCATCCCAAGAAGCTTCTCATTTTACGAGGGAGGGGCCGGGGCAGTTCTGAGATTTAAACTCAGGGATGGGTAGCCGGTAGGCCTCTGGTCCTTTCAGGAGAATGCTCCTCCCTGGGGAAAAGATTGTTTTCTCATGAGAAGATGCCACCTTCTGCTCCGCCACTTCACAGACGTGTGTCCTGAGGGAGGCCCCCACCTCTCTGGGTTTCTTCCCCCCAGCTTTTCTACTCTGTCCTGCTGGTGTCATGAAGCTCCTCCGAAGATCACATGCAAAGTGTGTGGGCAGGACTCTCTAAACTCCCGTGTTGTAAAGGGCGTCCACTTTGATGGAGAGGCAGCCTGCCTGTGGGGACTGGAGCTGGGGCTGCTGTGAATGGTGCCCCCGATGGCCAGGCCCCTCTTGGGGCTCCCAGGGATCAGCAGCCTCCCTGCCTTCCTTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTGCCAGCCTGCCTGCCTTCCTCCCCCCAGGATGCTGTCCCAGCAGAAGAGGTTCCTGGCCCAGTTCCCAGTGCACCAGCAGATGCGTCTGCACGCCCAGCAGCAGCAGGCAGGAGTCATGGACCTTCTGGAAGCCCAGCTGGAGACCCAGCTACAGGTACAAGTTACAGAACTGGACCTTCCAAAAGCAGTGGTTTAAAGAGGAGCAGAAATAGCTGAAGCCAGCCTGTGACCACACGTCAGCCATGGGGACTGCACTTCCCTGCCTGTGGCATCGTTGACCCGCTGAGTCTCACCTGCTGAGGGTGTGTCGGCCTCGCCTTAGGACCCTGAGCCCCTGGAGGGCAAGTGTGGCCTGTGTGGATCCCTACAGCAGCTGCAGCATGCTAAGCAGGGCCAGGCCCTGAGCAGCTGGTCAGGCCTCATCTATGGAGCTGACAGAGAATTGAGCATTCCCCTGTGTGCGCATGGCCACCAGGAGGCTTCCGGTGTAATGGTGACCTCTGTGTCACTCAGGCAGTGTTGGCGATAGCTAAAGTTTACACTTTATTTACAGCAAACAGGAAGCTCAGCTCTCATGATATAAAGTGCATATTTCATTACAGAAAATCCCATTTGTGTGAGGTTATACAGTGAGATGTAAGGTGAGAGTATAAAGTGTGGCTAAGCAAAGTGGCTGCCTTTAAAAAAATCAAATCTTCCAGAATGGAAGCATTTAGCAGAGTGTTGGCCCTTTCAGAGTGTTCTCCACTGGCGATGGCAGTCGCAGAGTGACAGTGGTAAGAATACAGCAGTGGTGGCCGATAGGTACTTATTGAGGGTCTATGATAGATAGTCATGAGCTGAGAGCTTTGCACACACTTTCCAACAAAAGAGGTTACTGCTACTGTCCCCATTACAGATGGACAAACTGAGGCATGCACAGGTTACGTTGCTATCCAGGGTCACACAGTTAATGCATCATGGAATTCTGGTGTGTTTGTTTACACCACAGTGTTGGAAGTTTAGAGCCCAGCCTGTGGAGTCGGGCAGAAGTGAGTCCCATCCTATTCTGCTGCACCTGCTCCGGGCAGGTCACTGAGGCCCTCTGACCTCAGTGTACTCTGTCAACTGAAGACCGACGGCCAGTGTGAGTGAGGACCCACAGTTATGCAGCAGGAGCTGGTAGATGCCAGTGTGTCCTCCTGCTCCTCTCCTCTCTGGGATGTATGTTGGAAAATTCTCCTCCACACGGGAGACGTGGTCTTCAGTGGCCAGCCTCAAGTGTCAGAATTCACTCACGTGGAGAGGGATTTAGAGAAGTCAGAGGGAGGCCCAGCTGAATGCTCCTCTCTGCTTGCATTTCAGGAAGCTGAACAGAACTTCATCTCCGAGCTGGCAGCCTTGGCCCGAGTGCCCCTTGCTGAAAGCAAACTGTTGCCTGCTAAGCGTGGGCTGCTAGGTGAGTCACAGATTGCTTGAGTTGCAGCGGGAAGCACTCTGGGCTGAGAGATACGGATTCTAGTTCCACACTGGCCACTAACTAGCTGTGTGACCTTAGGCATCGTGCCTAGGCTCTCTGGGCTTTTGTGACCTTGTCTGTAAATGAGCAGGCTTGGCTAGGCCACCCCTCAGGCCCACTTGCTCTCTAGCATTTGATAATTCCAGTTCTTGGGTCTGGTGTTCACTGGCTGTGTCTCCTAACTGACTCCATTTTTCCATCTGTAAAGTGGGGATAAGCCCTCCTCCCACCCTTGCCAGCGACAACTTCAGTGACATCACAGGATTTTTTAACCTGGTAATGAGAGAGTGACTCAGAAGGTGGTGTGAGAACACAGAGATCTACTGAAACAAAAGCTGTCACACTGGTGCTGGGTTTTCAGTTGCTTGCTGCTTCATTAAGTCTTCCAGTCAGCTGGGTAGAGTGGATACCCAGCGGGAGCCTAGCAGACTGGAGCTCAAGCCACAGCTCTGCCACTTCCTGGCTTGTGCAGGCTTGGGAGAGTACGTCACCTTCCCAGGCCTCAGTTTCCTCATTAGTTGAGTGGCTGCAATAGCATAAGATACCAAGCATACACTTGGCCCACACAACATGCTCAAAAATGTCAGGCTGGGTTGGTGTGAGGCTGCAAGAAGTTGTCACTTGTCTAAAGTCACAGAGCCATGCCTGGGTTCATCTGTCCTCTACAGAGAAGCCCCTAAGGACTAAAAGGAAGAAGCCCCTGCCCCAGGAAAGAGGGGACCTGGGGGTGCCCAACAATGAGGACCTTGCCTCCGGGGACCAGACCTCAGGCTCACTCAGGTATGACTGGGCCCCGGACCTGTTGCCTGTGGCTGGGTTTGGTAAATGCACTCAGCTGCTGTGTGCCAAAAGTCAGGGCAGGAAAATCATCAGTCCCCTCAGAGGCATTAAATGTGAAGGTTCAAGAAATGACAGATATGAACGTAATTTGTGGGCAGTAAGCCATGATGATACCAGGGGTGCCACATGGCTGTTACCCTTCCTGTTTGTGTCTCATTTGGCCAGATGAGCCTTGACCTACCTCCACACCCCATTGGCATCCAGCCTGAAGTGTTGGGCAGTCCCTTCTTTGACCAGGGATGGCTGTGGTCATGGCACTTGGATGACCTCCTACCCAAGGAGGGAAACGGGTTTTATTGGTTTCTTAACAACCCATGTCAAAGTAAAAATTGTTTTGATCACCTTTGGCTGCATTTTCATTTAATCCGATTGGGTAAGTTATGGCATCATGATGGGCATGGAGTCAGCGTTCTAACTGGCTGCCTTTCTTCTCTGTTTTAAGCAGCAAAAGGCTGAGTCAGCAAGAAAGTGAAGCTGGGGACAGTGGGAACTCAAAGAAGATGCTAAAGAGAAGAAGCAACTTGTAGTTTAAGACCAGTCGGTGGGACAAGACCTGAAGCCCTGGGTCTGGGTGTGAATTCCACCTTCCCTCCTGCAGTGCTGAGAGGCAGCGAGGACGGAGAGGACAGCGGCATCTCTAGGCTCTTCTGAGAGGGACAGAGAAAGAATAGAAATGTGCCCTAAAAGCATAAATGAGTATCACCTGAGAAAATTAGGCATTCCCGTCTTGGAAACACGTCTCTGTGAGTTTGCATTTCATTTGGCTTGGAGCCCTGGCTCGATGCCTCATGGATCTTTCTCCCCAAGGAGGGACGTCTTGAGGGGTCCGAGCCTCAGGCCAAGGACCCCTGATGCAGACTCTGGAATCCCTGGCCCAAAGGCCTGTCTGGGCCCATCTGGGGCTGAGGACACACAGATACATAATGACACCTGCAGAAATGTATTCTCTGAGGACACTTAGAATATGAGGAAGAGGGTGTGGCCCAACCCTCACTTCACCTGGGGAGGGGCTTCTTCCGGACAGTAGACACCCTGCCCGTGCAGAGAGATGTCATGGGGGCACCTGCTCTCCCTGATAGATGCTGAGAGCATCCAGAAACTTCCAGACCAGCCCTCTCACCACACCCAGAAGAGGCCTTTCCCATCTGGAGAGAAGCTT | benign | 79,903 |
The mutation impacting EVC (EvC ciliary complex subunit 1) on chromosome 4 at position 5810939: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AGAGTGTTGGCCCTTTCAGAGTGTTCTCCACTGGCGATGGCAGTCGCAGAGTGACAGTGGTAAGAATACAGCAGTGGTGGCCGATAGGTACTTATTGAGGGTCTATGATAGATAGTCATGAGCTGAGAGCTTTGCACACACTTTCCAACAAAAGAGGTTACTGCTACTGTCCCCATTACAGATGGACAAACTGAGGCATGCACAGGTTACGTTGCTATCCAGGGTCACACAGTTAATGCATCATGGAATTCTGGTGTGTTTGTTTACACCACAGTGTTGGAAGTTTAGAGCCCAGCCTGTGGAGTCGGGCAGAAGTGAGTCCCATCCTATTCTGCTGCACCTGCTCCGGGCAGGTCACTGAGGCCCTCTGACCTCAGTGTACTCTGTCAACTGAAGACCGACGGCCAGTGTGAGTGAGGACCCACAGTTATGCAGCAGGAGCTGGTAGATGCCAGTGTGTCCTCCTGCTCCTCTCCTCTCTGGGATGTATGTTGGAAAATTCTCCTCCACACGGGAGACGTGGTCTTCAGTGGCCAGCCTCAAGTGTCAGAATTCACTCACGTGGAGAGGGATTTAGAGAAGTCAGAGGGAGGCCCAGCTGAATGCTCCTCTCTGCTTGCATTTCAGGAAGCTGAACAGAACTTCATCTCCGAGCTGGCAGCCTTGGCCCGAGTGCCCCTTGCTGAAAGCAAACTGTTGCCTGCTAAGCGTGGGCTGCTAGGTGAGTCACAGATGCTTGAGTTGCAGCGGGAAGCACTCTGGGCTGAGAGATACGGATTCTAGTTCCACACTGGCCACTAACTAGCTGTGTGACCTTAGGCATCGTGCCTAGGCTCTCTGGGCTTTTGTGACCTTGTCTGTAAATGAGCAGGCTTGGCTAGGCCACCCCTCAGGCCCACTTGCTCTCTAGCATTTGATAATTCCAGTTCTTGGGTCTGGTGTTCACTGGCTGTGTCTCCTAACTGACTCCATTTTTCCATCTGTAAAGTGGGGATAAGCCCTCCTCCCACCCTTGCCAGCGACAACTTCAGTGACATCACAGGATTTTTTAACCTGGTAATGAGAGAGTGACTCAGAAGGTGGTGTGAGAACACAGAGATCTACTGAAACAAAAGCTGTCACACTGGTGCTGGGTTTTCAGTTGCTTGCTGCTTCATTAAGTCTTCCAGTCAGCTGGGTAGAGTGGATACCCAGCGGGAGCCTAGCAGACTGGAGCTCAAGCCACAGCTCTGCCACTTCCTGGCTTGTGCAGGCTTGGGAGAGTACGTCACCTTCCCAGGCCTCAGTTTCCTCATTAGTTGAGTGGCTGCAATAGCATAAGATACCAAGCATACACTTGGCCCACACAACATGCTCAAAAATGTCAGGCTGGGTTGGTGTGAGGCTGCAAGAAGTTGTCACTTGTCTAAAGTCACAGAGCCATGCCTGGGTTCATCTGTCCTCTACAGAGAAGCCCCTAAGGACTAAAAGGAAGAAGCCCCTGCCCCAGGAAAGAGGGGACCTGGGGGTGCCCAACAATGAGGACCTTGCCTCCGGGGACCAGACCTCAGGCTCACTCAGGTATGACTGGGCCCCGGACCTGTTGCCTGTGGCTGGGTTTGGTAAATGCACTCAGCTGCTGTGTGCCAAAAGTCAGGGCAGGAAAATCATCAGTCCCCTCAGAGGCATTAAATGTGAAGGTTCAAGAAATGACAGATATGAACGTAATTTGTGGGCAGTAAGCCATGATGATACCAGGGGTGCCACATGGCTGTTACCCTTCCTGTTTGTGTCTCATTTGGCCAGATGAGCCTTGACCTACCTCCACACCCCATTGGCATCCAGCCTGAAGTGTTGGGCAGTCCCTTCTTTGACCAGGGATGGCTGTGGTCATGGCACTTGGATGACCTCCTACCCAAGGAGGGAAACGGGTTTTATTGGTTTCTTAACAACCCATGTCAAAGTAAAAATTGTTTTGATCACCTTTGGCTGCATTTTCATTTAATCCGATTGGGTAAGTTATGGCATCATGATGGGCATGGAGTCAGCGTTCTAACTGGCTGCCTTTCTTCTCTGTTTTAAGCAGCAAAAGGCTGAGTCAGCAAGAAAGTGAAGCTGGGGACAGTGGGAACTCAAAGAAGATGCTAAAGAGAAGAAGCAACTTGTAGTTTAAGACCAGTCGGTGGGACAAGACCTGAAGCCCTGGGTCTGGGTGTGAATTCCACCTTCCCTCCTGCAGTGCTGAGAGGCAGCGAGGACGGAGAGGACAGCGGCATCTCTAGGCTCTTCTGAGAGGGACAGAGAAAGAATAGAAATGTGCCCTAAAAGCATAAATGAGTATCACCTGAGAAAATTAGGCATTCCCGTCTTGGAAACACGTCTCTGTGAGTTTGCATTTCATTTGGCTTGGAGCCCTGGCTCGATGCCTCATGGATCTTTCTCCCCAAGGAGGGACGTCTTGAGGGGTCCGAGCCTCAGGCCAAGGACCCCTGATGCAGACTCTGGAATCCCTGGCCCAAAGGCCTGTCTGGGCCCATCTGGGGCTGAGGACACACAGATACATAATGACACCTGCAGAAATGTATTCTCTGAGGACACTTAGAATATGAGGAAGAGGGTGTGGCCCAACCCTCACTTCACCTGGGGAGGGGCTTCTTCCGGACAGTAGACACCCTGCCCGTGCAGAGAGATGTCATGGGGGCACCTGCTCTCCCTGATAGATGCTGAGAGCATCCAGAAACTTCCAGACCAGCCCTCTCACCACACCCAGAAGAGGCCTTTCCCATCTGGAGAGAAGCTTCCAGACCAGCCCTTCACACACCACAGCCAGGAGGGGCCTTTCCCACCTGGAGAGAAACTTCCAGACCAGCCCCTCATACCACAGCCAAGAGGGGCCTTTCTCACCTGGAGAGAAATTTCCAGACCATCCCCTCTCACCACAGCCAGGAGAGGCCTTTCCCACCGGTAGAGAAACTTCCAGACCAGCCCCTCACACCACAGCCAAGAGAAGCCTTTCCAGCCTGGAGAGAAACTTCCAGACCAGCCCTCTCACTACAGCCAGGAGAGGCCTTTCCCGCCTGGAAACTTCCGGACAAGCCTCTCACACACCACAGCCAGGAGAGGCCTTTCCCACCTGGACAGAAACTTCCAGACCAGCCCCTCTCACCACAGCCAGGAGAGGCCTTTACCACCTGGAGAGAAGCTTCCAGACCAGCCCCTCACACCACAGCCAGGAGAGGCCTTTCCCACCTGGAGAGAAACTTCCAGACCAGCCCCTCATACCACAGCCAAGAGGGGCCTTTCTCACCTGGAGAGAAACTTCCAGACCAGCCCCTCACACCACCGCCAGGAGAGGCCTTTCCCACCGGGAGAGAAACTTCCAGACCAGCCCCTCACACCACAGCCAGGAGAGGCCTTTCCCACCGGGAGAGAAACTTCCAGACCAGCCCTCTCACTACAGCCAGAAGAGGCCTTTCCCACCGGGAGAGGAACTTCCAGACCAGCCCCTCACACCACAGCCAGGAGAGGCCTTTCCCGCCTGGAGAGAAGCTTCAGGCCAGCTCCTCACACCACAGCCAGGAGAGACCTTTTCTGCCTGGAGAGAAACTTTCAGACCAGCCCCACACACCACAGCCAGGAGAGGCCGTTCCTGCCTGGAGAGAAGCTTCCAGACCAGCCCTTCACACCACAGCCAGGAGAGGCCTTTCCCACCTGGAGAGAAACTTCCAGACCAGCCCCTCTCACCACAGCCAGGAGAGGCCGTTCCCACCTGGAGGGAAAATTGCTCCTTTGATGGAGGTTAGGGACTGTCACCCTCAGCACTGTGAACATACCGGGCGAGATCATTCTTCAGGGGAAGGAGCTGCCCAGAGCATCACAGGATGTTCCAGTGTCCCTGGTCTCTGCCCACCAGATGCCAGCACTCCCACCATTCGTGGCAACCAAGGATGTCTCCAGACACTGCCCCGTGTCCATGGGGTTATCACCCACTGTGCTGAGTCAAAGGGTGCCTTGCCCTGGTCTAATCCAGGACATAGCCGTGGATACGTCCAAAAATCCCCAGAACCTAGTGAGCCCTCTGGCTCTGGGAGCCCCTATCTCAGGAATTTTCAGGGTC 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AGAGTGTTGGCCCTTTCAGAGTGTTCTCCACTGGCGATGGCAGTCGCAGAGTGACAGTGGTAAGAATACAGCAGTGGTGGCCGATAGGTACTTATTGAGGGTCTATGATAGATAGTCATGAGCTGAGAGCTTTGCACACACTTTCCAACAAAAGAGGTTACTGCTACTGTCCCCATTACAGATGGACAAACTGAGGCATGCACAGGTTACGTTGCTATCCAGGGTCACACAGTTAATGCATCATGGAATTCTGGTGTGTTTGTTTACACCACAGTGTTGGAAGTTTAGAGCCCAGCCTGTGGAGTCGGGCAGAAGTGAGTCCCATCCTATTCTGCTGCACCTGCTCCGGGCAGGTCACTGAGGCCCTCTGACCTCAGTGTACTCTGTCAACTGAAGACCGACGGCCAGTGTGAGTGAGGACCCACAGTTATGCAGCAGGAGCTGGTAGATGCCAGTGTGTCCTCCTGCTCCTCTCCTCTCTGGGATGTATGTTGGAAAATTCTCCTCCACACGGGAGACGTGGTCTTCAGTGGCCAGCCTCAAGTGTCAGAATTCACTCACGTGGAGAGGGATTTAGAGAAGTCAGAGGGAGGCCCAGCTGAATGCTCCTCTCTGCTTGCATTTCAGGAAGCTGAACAGAACTTCATCTCCGAGCTGGCAGCCTTGGCCCGAGTGCCCCTTGCTGAAAGCAAACTGTTGCCTGCTAAGCGTGGGCTGCTAGGTGAGTCACAGATGCTTGAGTTGCAGCGGGAAGCACTCTGGGCTGAGAGATACGGATTCTAGTTCCACACTGGCCACTAACTAGCTGTGTGACCTTAGGCATCGTGCCTAGGCTCTCTGGGCTTTTGTGACCTTGTCTGTAAATGAGCAGGCTTGGCTAGGCCACCCCTCAGGCCCACTTGCTCTCTAGCATTTGATAATTCCAGTTCTTGGGTCTGGTGTTCACTGGCTGTGTCTCCTAACTGACTCCATTTTTCCATCTGTAAAGTGGGGATAAGCCCTCCTCCCACCCTTGCCAGCGACAACTTCAGTGACATCACAGGATTTTTTAACCTGGTAATGAGAGAGTGACTCAGAAGGTGGTGTGAGAACACAGAGATCTACTGAAACAAAAGCTGTCACACTGGTGCTGGGTTTTCAGTTGCTTGCTGCTTCATTAAGTCTTCCAGTCAGCTGGGTAGAGTGGATACCCAGCGGGAGCCTAGCAGACTGGAGCTCAAGCCACAGCTCTGCCACTTCCTGGCTTGTGCAGGCTTGGGAGAGTACGTCACCTTCCCAGGCCTCAGTTTCCTCATTAGTTGAGTGGCTGCAATAGCATAAGATACCAAGCATACACTTGGCCCACACAACATGCTCAAAAATGTCAGGCTGGGTTGGTGTGAGGCTGCAAGAAGTTGTCACTTGTCTAAAGTCACAGAGCCATGCCTGGGTTCATCTGTCCTCTACAGAGAAGCCCCTAAGGACTAAAAGGAAGAAGCCCCTGCCCCAGGAAAGAGGGGACCTGGGGGTGCCCAACAATGAGGACCTTGCCTCCGGGGACCAGACCTCAGGCTCACTCAGGTATGACTGGGCCCCGGACCTGTTGCCTGTGGCTGGGTTTGGTAAATGCACTCAGCTGCTGTGTGCCAAAAGTCAGGGCAGGAAAATCATCAGTCCCCTCAGAGGCATTAAATGTGAAGGTTCAAGAAATGACAGATATGAACGTAATTTGTGGGCAGTAAGCCATGATGATACCAGGGGTGCCACATGGCTGTTACCCTTCCTGTTTGTGTCTCATTTGGCCAGATGAGCCTTGACCTACCTCCACACCCCATTGGCATCCAGCCTGAAGTGTTGGGCAGTCCCTTCTTTGACCAGGGATGGCTGTGGTCATGGCACTTGGATGACCTCCTACCCAAGGAGGGAAACGGGTTTTATTGGTTTCTTAACAACCCATGTCAAAGTAAAAATTGTTTTGATCACCTTTGGCTGCATTTTCATTTAATCCGATTGGGTAAGTTATGGCATCATGATGGGCATGGAGTCAGCGTTCTAACTGGCTGCCTTTCTTCTGTTTTAAGCAGCAAAAGGCTGAGTCAGCAAGAAAGTGAAGCTGGGGACAGTGGGAACTCAAAGAAGATGCTAAAGAGAAGAAGCAACTTGTAGTTTAAGACCAGTCGGTGGGACAAGACCTGAAGCCCTGGGTCTGGGTGTGAATTCCACCTTCCCTCCTGCAGTGCTGAGAGGCAGCGAGGACGGAGAGGACAGCGGCATCTCTAGGCTCTTCTGAGAGGGACAGAGAAAGAATAGAAATGTGCCCTAAAAGCATAAATGAGTATCACCTGAGAAAATTAGGCATTCCCGTCTTGGAAACACGTCTCTGTGAGTTTGCATTTCATTTGGCTTGGAGCCCTGGCTCGATGCCTCATGGATCTTTCTCCCCAAGGAGGGACGTCTTGAGGGGTCCGAGCCTCAGGCCAAGGACCCCTGATGCAGACTCTGGAATCCCTGGCCCAAAGGCCTGTCTGGGCCCATCTGGGGCTGAGGACACACAGATACATAATGACACCTGCAGAAATGTATTCTCTGAGGACACTTAGAATATGAGGAAGAGGGTGTGGCCCAACCCTCACTTCACCTGGGGAGGGGCTTCTTCCGGACAGTAGACACCCTGCCCGTGCAGAGAGATGTCATGGGGGCACCTGCTCTCCCTGATAGATGCTGAGAGCATCCAGAAACTTCCAGACCAGCCCTCTCACCACACCCAGAAGAGGCCTTTCCCATCTGGAGAGAAGCTTCCAGACCAGCCCTTCACACACCACAGCCAGGAGGGGCCTTTCCCACCTGGAGAGAAACTTCCAGACCAGCCCCTCATACCACAGCCAAGAGGGGCCTTTCTCACCTGGAGAGAAATTTCCAGACCATCCCCTCTCACCACAGCCAGGAGAGGCCTTTCCCACCGGTAGAGAAACTTCCAGACCAGCCCCTCACACCACAGCCAAGAGAAGCCTTTCCAGCCTGGAGAGAAACTTCCAGACCAGCCCTCTCACTACAGCCAGGAGAGGCCTTTCCCGCCTGGAAACTTCCGGACAAGCCTCTCACACACCACAGCCAGGAGAGGCCTTTCCCACCTGGACAGAAACTTCCAGACCAGCCCCTCTCACCACAGCCAGGAGAGGCCTTTACCACCTGGAGAGAAGCTTCCAGACCAGCCCCTCACACCACAGCCAGGAGAGGCCTTTCCCACCTGGAGAGAAACTTCCAGACCAGCCCCTCATACCACAGCCAAGAGGGGCCTTTCTCACCTGGAGAGAAACTTCCAGACCAGCCCCTCACACCACCGCCAGGAGAGGCCTTTCCCACCGGGAGAGAAACTTCCAGACCAGCCCCTCACACCACAGCCAGGAGAGGCCTTTCCCACCGGGAGAGAAACTTCCAGACCAGCCCTCTCACTACAGCCAGAAGAGGCCTTTCCCACCGGGAGAGGAACTTCCAGACCAGCCCCTCACACCACAGCCAGGAGAGGCCTTTCCCGCCTGGAGAGAAGCTTCAGGCCAGCTCCTCACACCACAGCCAGGAGAGACCTTTTCTGCCTGGAGAGAAACTTTCAGACCAGCCCCACACACCACAGCCAGGAGAGGCCGTTCCTGCCTGGAGAGAAGCTTCCAGACCAGCCCTTCACACCACAGCCAGGAGAGGCCTTTCCCACCTGGAGAGAAACTTCCAGACCAGCCCCTCTCACCACAGCCAGGAGAGGCCGTTCCCACCTGGAGGGAAAATTGCTCCTTTGATGGAGGTTAGGGACTGTCACCCTCAGCACTGTGAACATACCGGGCGAGATCATTCTTCAGGGGAAGGAGCTGCCCAGAGCATCACAGGATGTTCCAGTGTCCCTGGTCTCTGCCCACCAGATGCCAGCACTCCCACCATTCGTGGCAACCAAGGATGTCTCCAGACACTGCCCCGTGTCCATGGGGTTATCACCCACTGTGCTGAGTCAAAGGGTGCCTTGCCCTGGTCTAATCCAGGACATAGCCGTGGATACGTCCAAAAATCCCCAGAACCTAGTGAGCCCTCTGGCTCTGGGAGCCCCTATCTCAGGAATTTTCAGGGTCNN | benign | 79,914 |
Variant at chromosome 4, position 6277462, gene WFS1 (wolframin ER transmembrane glycoprotein): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Type_2_diabetes_mellitus', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | CTTAGGTCTGCACGTGCAGTTAAATGGCTGCTTTTGTGGAAGGTGCCAGTTCCCGGGAGCTGGGAACTTGGAAACAGGATGGAGCAGGCTCCCAAGCTTGACCATGCATGGTTTGCACCTGGGGGATGCACCCGGGGGTGCTTGACCATGCATGGTTTGCACCTGGGGGATGCACGGGGGTGGGGTGGGGGGGGGGGGTGTGCTTGACCATGCATGGTTTGCACCTGGGGGATGTTTTACACTAAGGGCTCAGTCCCTCTGAGGGAGGAACGTGTGGATTGAAATCTGCAGAGTTCTTGAGCGACACCAGTCTGATCTTTAGGACTCATTTGCAGCGGGAATGGAGCAGAAATTGTTGTGTGTGGAGCCTGGGGCCACTCCTGACTCTTCCAGTCACAGCTGCCCCCAAAAGTGACCTCTGGGCACCTACTCAGACCTGGCTGCTCAGTGCCAAGCGCTGGGTGTTCAGAGGTGGCCAGGGGACTCCCTCGTGCTGCCCATGGTGTCTGGTCTCACTGGTCCTCACAGTTGCCCCGTCCCCATTTTCAGATGAGGAGGCTGAGGTGCAGAGCGGGATGTGGGCTGCTCAGGACCACACAGCTGGTGGGCACAGAGCCAGGAGTACAGCGCTGCGGCAGCTTGGGGCTGGGAGCGAGACTCTCTGTTACCAGCCTCTCCCTGCTCTGTGCCTCAGAGGATGGCTGTGGCCCTGAGCTTGGGAGGGTCATTTGGGAATCTGAGGAAAAGTTTCCACAGCCTCACACAGCAGCAGGTTCAAGGTCCAGCAGTGCCAGGGGTTTGCATCCCACCCCTAACGCCGCTCATCCAGGGCCCATCCGGGTCCGGGGCTCGGGATCCTGCAGCGCTTTCAGCTCTGTGTCTGTGGCCGGTGGTTGTCCTTCATTACAGGGATGGTGGTGTTTTTCCATGTTGCTAAGCAGCATGTGAGGGCCTCTGTTGAATAAAATAAAGCCCTTGCTCCGGCGTGACACGGGTCACGGGATCTCTGCTCACTCTAGTCTCTTCTGATGCCCCCACCGCACTGTTTGCCTTAGTTTGCTTTTTACTCTCTGTGTTGGTTTCTGGGGCATCAGTCCTCTGACTTCGGTGCTGTGGCTTGGGCCTGGGGTGGGGGCTGTGGAGCGGCAGATCTGGGTATGAATCCCAGCTCCACCCATTTGGCTCCCTCTCTTCTCTCCCCTGCCCTCTTCTCCCCTCCCCAGCTCCCTTCCCCTCTCATATTTACTTAACTTTACTCAGTACCAGCGTATTAGTTTTCTAGGGCTTCCGTAAGAAACTACTGGAAACTTGGTGGCTTAAAACAACAGAGGTTTGTTCTCTGATGGTTCTGGAGGCAGAAGTCTGAAGTCAAGGTGTGGGCAGGGTGGGTCCCTCCTGGAGGCTCTGAGGGAGGCTCAGTTCCTCGCCTCTGTCCAGCTTCTGGCAGTGGCCAGTGGTCCTCCTGCTCCTTGGCCACTGTCACCCGTCTCCGCATGGCTCTGTTACACTTCTCTTCCTATAGGCCATCAGCTCTTGGAGCCAGGGCTTCCCTACTCCAGGCTGATCTCATTTCAAGATCCTTAAATACATCTTCAAAGACCTGTTTTTCCAAATAAGGGCACATTCACAGACATTGGTGGGCACATGATGTGGGGCCCAATTCAGCCCCCTGCAGCCAGGCTCCACATGGGTGGGCTCTGGGTGTTGCTATCATCATCCCCGTTTCTTGGATGAGGGAAGGCCAGGGTTGTGTGGCTCATGCCCAGTGAGGCAGGGACTCCAGGCCTCGGCATGTGCAGGTCTGAGATTGTAAGTGCCATGCCATCTGTAGAGTCACGTGGGTGAGTGTCCTCCCATGGTTTCCTCCCTGGAAGCGGTGCTGGCCCATGGGGACTGTACTGAGTGTCAGCGAGATCCTGTATGGAGTGTCTGGCAGCTCCCACCTGCCTCCCTCTGCTTTTCTGTCTCCAGCAGACACTAAGTGCCAGAGCGGGCTCTGCCGGTGCTGGATGTGCCTGACCTTGACTTTTCTTCCAGGCAGGATGGACTCCAACACTGCTCCGCTGGGCCCCTCCTGCCCACAGCCCCCGCCAGCACCGCAGCCCCAGGCGCGTTCCCGACTCAATGCCACAGCCTCGTTGGAGCAGGAGAGGAGCGAAAGGCCCCGAGCACCCGGACCCCAGGCTGGCCCTGGCCCTGGTGTTAGAGACGCAGCGGCCCCCGCTGAACCCCAGGCCCAGCATACCAGGAGCCGGGAAAGAGCAGACGGCACCGGTAAGGGAGCAGGCTGGGAAGCCCAGGCTGGGGATGTTCAGGGATAGCTGGGTGGGAACGGGGTTCAGCCACCCCTGGAGGGTCCCCCCGCCAGGTCCTCTGCAGTTCAGCATTGTGCAGCTCCCATGCTGTGCACAGGCGTCCATCCAGTGGGGCTACCCACCTCCTCAGAGCCTTGCACCTGTCACCTTTGTGGCACCCACTCGAGGTGGTGCTGGTGCCCCCACTCCTCTGCAGTCCTTCTCTTCCCAGGGCCTCTGCAGCACTTCACAGCTTCCATTTGCAACAGCGTCCAAACATGTGGAGTAAATTCACGGGCCCTCTGTAACCAACTAGGGTGGCAGGCCAGAGGTGACAGCCACACTCTCGGGAGTGAGGCCACATGCGGGCGAAGCCCTTGGTGCTGAGTTTCCCCTCTCCCTGAGGGAGACTTGTGAGGGACGGGCGTCCTTCACCTCCATCCTGAGGCGGGATGCTGGGGCCCTGGGTGTTCACAGGCAGAGCTGACTGAGGCCCTTGGTCTTCACAGGCCGAGCTGACTGAGGCCCTGGGTGTTCAAAGCAGAGCTGAGGCCCTTGGTGTTCACAGGCAGAGCTGACAGGCTTGTTGGTTCCTGGGTGGTGATGTGAGGGTGGTGGGTGTGAGCCAGGGGAGTCCGGCCCCTGGGCACCTTCTCCAGCTGACTCAGGCCTCGGTCAGCCTTCACTTTTGCTAGAGAGGCCGCTGCCAGGGAGGCTCAGTCCCAGCTCATCACTGCCCCTCCTGCCCATGCAGAAGCCCCAGACCCATGGTGAGTGCCTGCTGTGTACACCAGCCTTTTCCATGTGCCTGCAGGACTCCTCATGGCAGTCCTGAGAGGGGAAACTGAGACACCGAGTCTAGGTGACTTGCCCAAGAGACCCAGCGGGTGAGAGACGAGGTGCTCGAGTGGTCCAGGTTTCCTTCTTGTCCCAGTCACCCCACTGGCAGGGCCGTGGGGCCTCCCTGCTGTGGTCGCAGCGCGCTGAGGCTCCCATGTACCACTTATGCTGGGCGTGCCCTTGGAAACTCACTGCAGCCCTGGGCCCTGTTTGTCTTTGCATCTCCTTAAAAGATCACTGTGCTCCTCTGCTTTGTTTTGGAGGCCTCTGGGCGGATGAGGGCCTGACCCCGGGATTTGGGCCCAGCCTCACGGCTTCAGGGGAACAGATACCAGGGCTCGGAAGCTTGGTTTCAATCTGGGTAATGAGAACAGCCCGCAAAGGACAGAGTCCAAGACTGTGTGTTTCAGATAAGAAGAGTCAGGAAGCAGCTGTGGTTTGTTTGGCTTCGGTCTCCAATGTGGGGGTGGTGAAGAGCAAGCCCTGGGCGCCGCCTGACAGCCCAGTCCCCACCACTGGGCCTGCAGCTGGGGGCAGTGGGCATCCCGTCTCCCAGTCACTGGTCACTGATGTGGCCAAAGCAGGCCTGGCCCTGCATGCCCAGTGGCCGCAGGGAGGGCAGGGCCCAGGGTCCCTGCCAGTAGCAGCTGCTGCGAGAATCTGTTATTTAGCTCCCCCATCCAGCCAACATAGGTGGGTGAGCATCAGTTGAAATACCAATAGGTAACAACAAGGGTAGCTATTTAACTGACACTTCCCCGAGCTAGGCATCTTTTTAGGGCATTAGCCCACTTGCCTCTTTAACAGCCCTGGGAGGCAGGCTCTGCTGCTGCCCTGTTTTTCAGATGGGAAACCGAGGGATAGAGGGCTTAAGTAGATGACCCAGCGTCCCGTGGTTGGTGAAGGGTGGAGGGGAGATTTAAACATACCGTGGAGCCTGTGCTCACTATGGGCCTCAGGTC | CTTAGGTCTGCACGTGCAGTTAAATGGCTGCTTTTGTGGAAGGTGCCAGTTCCCGGGAGCTGGGAACTTGGAAACAGGATGGAGCAGGCTCCCAAGCTTGACCATGCATGGTTTGCACCTGGGGGATGCACCCGGGGGTGCTTGACCATGCATGGTTTGCACCTGGGGGATGCACGGGGGTGGGGTGGGGGGGGGGGGTGTGCTTGACCATGCATGGTTTGCACCTGGGGGATGTTTTACACTAAGGGCTCAGTCCCTCTGAGGGAGGAACGTGTGGATTGAAATCTGCAGAGTTCTTGAGCGACACCAGTCTGATCTTTAGGACTCATTTGCAGCGGGAATGGAGCAGAAATTGTTGTGTGTGGAGCCTGGGGCCACTCCTGACTCTTCCAGTCACAGCTGCCCCCAAAAGTGACCTCTGGGCACCTACTCAGACCTGGCTGCTCAGTGCCAAGCGCTGGGTGTTCAGAGGTGGCCAGGGGACTCCCTCGTGCTGCCCATGGTGTCTGGTCTCACTGGTCCTCACAGTTGCCCCGTCCCCATTTTCAGATGAGGAGGCTGAGGTGCAGAGCGGGATGTGGGCTGCTCAGGACCACACAGCTGGTGGGCACAGAGCCAGGAGTACAGCGCTGCGGCAGCTTGGGGCTGGGAGCGAGACTCTCTGTTACCAGCCTCTCCCTGCTCTGTGCCTCAGAGGATGGCTGTGGCCCTGAGCTTGGGAGGGTCATTTGGGAATCTGAGGAAAAGTTTCCACAGCCTCACACAGCAGCAGGTTCAAGGTCCAGCAGTGCCAGGGGTTTGCATCCCACCCCTAACGCCGCTCATCCAGGGCCCATCCGGGTCCGGGGCTCGGGATCCTGCAGCGCTTTCAGCTCTGTGTCTGTGGCCGGTGGTTGTCCTTCATTACAGGGATGGTGGTGTTTTTCCATGTTGCTAAGCAGCATGTGAGGGCCTCTGTTGAATAAAATAAAGCCCTTGCTCCGGCGTGACACGGGTCACGGGATCTCTGCTCACTCTAGTCTCTTCTGATGCCCCCACCGCACTGTTTGCCTTAGTTTGCTTTTTACTCTCTGTGTTGGTTTCTGGGGCATCAGTCCTCTGACTTCGGTGCTGTGGCTTGGGCCTGGGGTGGGGGCTGTGGAGCGGCAGATCTGGGTATGAATCCCAGCTCCACCCATTTGGCTCCCTCTCTTCTCTCCCCTGCCCTCTTCTCCCCTCCCCAGCTCCCTTCCCCTCTCATATTTACTTAACTTTACTCAGTACCAGCGTATTAGTTTTCTAGGGCTTCCGTAAGAAACTACTGGAAACTTGGTGGCTTAAAACAACAGAGGTTTGTTCTCTGATGGTTCTGGAGGCAGAAGTCTGAAGTCAAGGTGTGGGCAGGGTGGGTCCCTCCTGGAGGCTCTGAGGGAGGCTCAGTTCCTCGCCTCTGTCCAGCTTCTGGCAGTGGCCAGTGGTCCTCCTGCTCCTTGGCCACTGTCACCCGTCTCCGCATGGCTCTGTTACACTTCTCTTCCTATAGGCCATCAGCTCTTGGAGCCAGGGCTTCCCTACTCCAGGCTGATCTCATTTCAAGATCCTTAAATACATCTTCAAAGACCTGTTTTTCCAAATAAGGGCACATTCACAGACATTGGTGGGCACATGATGTGGGGCCCAATTCAGCCCCCTGCAGCCAGGCTCCACATGGGTGGGCTCTGGGTGTTGCTATCATCATCCCCGTTTCTTGGATGAGGGAAGGCCAGGGTTGTGTGGCTCATGCCCAGTGAGGCAGGGACTCCAGGCCTCGGCATGTGCAGGTCTGAGATTGTAAGTGCCATGCCATCTGTAGAGTCACGTGGGTGAGTGTCCTCCCATGGTTTCCTCCCTGGAAGCGGTGCTGGCCCATGGGGACTGTACTGAGTGTCAGCGAGATCCTGTATGGAGTGTCTGGCAGCTCCCACCTGCCTCCCTCTGCTTTTCTGTCTCCAGCAGACACTAAGTGCCAGAGCGGGCTCTGCCGGTGCTGGATGTGCCTGACCTTGACTTTTCTTCCAGGCAGGATGGACTCCCAACACTGCTCCGCTGGGCCCCTCCTGCCCACAGCCCCCGCCAGCACCGCAGCCCCAGGCGCGTTCCCGACTCAATGCCACAGCCTCGTTGGAGCAGGAGAGGAGCGAAAGGCCCCGAGCACCCGGACCCCAGGCTGGCCCTGGCCCTGGTGTTAGAGACGCAGCGGCCCCCGCTGAACCCCAGGCCCAGCATACCAGGAGCCGGGAAAGAGCAGACGGCACCGGTAAGGGAGCAGGCTGGGAAGCCCAGGCTGGGGATGTTCAGGGATAGCTGGGTGGGAACGGGGTTCAGCCACCCCTGGAGGGTCCCCCCGCCAGGTCCTCTGCAGTTCAGCATTGTGCAGCTCCCATGCTGTGCACAGGCGTCCATCCAGTGGGGCTACCCACCTCCTCAGAGCCTTGCACCTGTCACCTTTGTGGCACCCACTCGAGGTGGTGCTGGTGCCCCCACTCCTCTGCAGTCCTTCTCTTCCCAGGGCCTCTGCAGCACTTCACAGCTTCCATTTGCAACAGCGTCCAAACATGTGGAGTAAATTCACGGGCCCTCTGTAACCAACTAGGGTGGCAGGCCAGAGGTGACAGCCACACTCTCGGGAGTGAGGCCACATGCGGGCGAAGCCCTTGGTGCTGAGTTTCCCCTCTCCCTGAGGGAGACTTGTGAGGGACGGGCGTCCTTCACCTCCATCCTGAGGCGGGATGCTGGGGCCCTGGGTGTTCACAGGCAGAGCTGACTGAGGCCCTTGGTCTTCACAGGCCGAGCTGACTGAGGCCCTGGGTGTTCAAAGCAGAGCTGAGGCCCTTGGTGTTCACAGGCAGAGCTGACAGGCTTGTTGGTTCCTGGGTGGTGATGTGAGGGTGGTGGGTGTGAGCCAGGGGAGTCCGGCCCCTGGGCACCTTCTCCAGCTGACTCAGGCCTCGGTCAGCCTTCACTTTTGCTAGAGAGGCCGCTGCCAGGGAGGCTCAGTCCCAGCTCATCACTGCCCCTCCTGCCCATGCAGAAGCCCCAGACCCATGGTGAGTGCCTGCTGTGTACACCAGCCTTTTCCATGTGCCTGCAGGACTCCTCATGGCAGTCCTGAGAGGGGAAACTGAGACACCGAGTCTAGGTGACTTGCCCAAGAGACCCAGCGGGTGAGAGACGAGGTGCTCGAGTGGTCCAGGTTTCCTTCTTGTCCCAGTCACCCCACTGGCAGGGCCGTGGGGCCTCCCTGCTGTGGTCGCAGCGCGCTGAGGCTCCCATGTACCACTTATGCTGGGCGTGCCCTTGGAAACTCACTGCAGCCCTGGGCCCTGTTTGTCTTTGCATCTCCTTAAAAGATCACTGTGCTCCTCTGCTTTGTTTTGGAGGCCTCTGGGCGGATGAGGGCCTGACCCCGGGATTTGGGCCCAGCCTCACGGCTTCAGGGGAACAGATACCAGGGCTCGGAAGCTTGGTTTCAATCTGGGTAATGAGAACAGCCCGCAAAGGACAGAGTCCAAGACTGTGTGTTTCAGATAAGAAGAGTCAGGAAGCAGCTGTGGTTTGTTTGGCTTCGGTCTCCAATGTGGGGGTGGTGAAGAGCAAGCCCTGGGCGCCGCCTGACAGCCCAGTCCCCACCACTGGGCCTGCAGCTGGGGGCAGTGGGCATCCCGTCTCCCAGTCACTGGTCACTGATGTGGCCAAAGCAGGCCTGGCCCTGCATGCCCAGTGGCCGCAGGGAGGGCAGGGCCCAGGGTCCCTGCCAGTAGCAGCTGCTGCGAGAATCTGTTATTTAGCTCCCCCATCCAGCCAACATAGGTGGGTGAGCATCAGTTGAAATACCAATAGGTAACAACAAGGGTAGCTATTTAACTGACACTTCCCCGAGCTAGGCATCTTTTTAGGGCATTAGCCCACTTGCCTCTTTAACAGCCCTGGGAGGCAGGCTCTGCTGCTGCCCTGTTTTTCAGATGGGAAACCGAGGGATAGAGGGCTTAAGTAGATGACCCAGCGTCCCGTGGTTGGTGAAGGGTGGAGGGGAGATTTAAACATACCGTGGAGCCTGTGCTCACTATGGGCCTCAGGT | pathogenic | 79,954 |
Variant at chromosome position 6277575, chromosome 4, gene WFS1 (wolframin ER transmembrane glycoprotein): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Wolfram_syndrome_1'] | TGCACCTGGGGGATGCACCCGGGGGTGCTTGACCATGCATGGTTTGCACCTGGGGGATGCACGGGGGTGGGGTGGGGGGGGGGGGTGTGCTTGACCATGCATGGTTTGCACCTGGGGGATGTTTTACACTAAGGGCTCAGTCCCTCTGAGGGAGGAACGTGTGGATTGAAATCTGCAGAGTTCTTGAGCGACACCAGTCTGATCTTTAGGACTCATTTGCAGCGGGAATGGAGCAGAAATTGTTGTGTGTGGAGCCTGGGGCCACTCCTGACTCTTCCAGTCACAGCTGCCCCCAAAAGTGACCTCTGGGCACCTACTCAGACCTGGCTGCTCAGTGCCAAGCGCTGGGTGTTCAGAGGTGGCCAGGGGACTCCCTCGTGCTGCCCATGGTGTCTGGTCTCACTGGTCCTCACAGTTGCCCCGTCCCCATTTTCAGATGAGGAGGCTGAGGTGCAGAGCGGGATGTGGGCTGCTCAGGACCACACAGCTGGTGGGCACAGAGCCAGGAGTACAGCGCTGCGGCAGCTTGGGGCTGGGAGCGAGACTCTCTGTTACCAGCCTCTCCCTGCTCTGTGCCTCAGAGGATGGCTGTGGCCCTGAGCTTGGGAGGGTCATTTGGGAATCTGAGGAAAAGTTTCCACAGCCTCACACAGCAGCAGGTTCAAGGTCCAGCAGTGCCAGGGGTTTGCATCCCACCCCTAACGCCGCTCATCCAGGGCCCATCCGGGTCCGGGGCTCGGGATCCTGCAGCGCTTTCAGCTCTGTGTCTGTGGCCGGTGGTTGTCCTTCATTACAGGGATGGTGGTGTTTTTCCATGTTGCTAAGCAGCATGTGAGGGCCTCTGTTGAATAAAATAAAGCCCTTGCTCCGGCGTGACACGGGTCACGGGATCTCTGCTCACTCTAGTCTCTTCTGATGCCCCCACCGCACTGTTTGCCTTAGTTTGCTTTTTACTCTCTGTGTTGGTTTCTGGGGCATCAGTCCTCTGACTTCGGTGCTGTGGCTTGGGCCTGGGGTGGGGGCTGTGGAGCGGCAGATCTGGGTATGAATCCCAGCTCCACCCATTTGGCTCCCTCTCTTCTCTCCCCTGCCCTCTTCTCCCCTCCCCAGCTCCCTTCCCCTCTCATATTTACTTAACTTTACTCAGTACCAGCGTATTAGTTTTCTAGGGCTTCCGTAAGAAACTACTGGAAACTTGGTGGCTTAAAACAACAGAGGTTTGTTCTCTGATGGTTCTGGAGGCAGAAGTCTGAAGTCAAGGTGTGGGCAGGGTGGGTCCCTCCTGGAGGCTCTGAGGGAGGCTCAGTTCCTCGCCTCTGTCCAGCTTCTGGCAGTGGCCAGTGGTCCTCCTGCTCCTTGGCCACTGTCACCCGTCTCCGCATGGCTCTGTTACACTTCTCTTCCTATAGGCCATCAGCTCTTGGAGCCAGGGCTTCCCTACTCCAGGCTGATCTCATTTCAAGATCCTTAAATACATCTTCAAAGACCTGTTTTTCCAAATAAGGGCACATTCACAGACATTGGTGGGCACATGATGTGGGGCCCAATTCAGCCCCCTGCAGCCAGGCTCCACATGGGTGGGCTCTGGGTGTTGCTATCATCATCCCCGTTTCTTGGATGAGGGAAGGCCAGGGTTGTGTGGCTCATGCCCAGTGAGGCAGGGACTCCAGGCCTCGGCATGTGCAGGTCTGAGATTGTAAGTGCCATGCCATCTGTAGAGTCACGTGGGTGAGTGTCCTCCCATGGTTTCCTCCCTGGAAGCGGTGCTGGCCCATGGGGACTGTACTGAGTGTCAGCGAGATCCTGTATGGAGTGTCTGGCAGCTCCCACCTGCCTCCCTCTGCTTTTCTGTCTCCAGCAGACACTAAGTGCCAGAGCGGGCTCTGCCGGTGCTGGATGTGCCTGACCTTGACTTTTCTTCCAGGCAGGATGGACTCCAACACTGCTCCGCTGGGCCCCTCCTGCCCACAGCCCCCGCCAGCACCGCAGCCCCAGGCGCGTTCCCGACTCAATGCCACAGCCTCGTTGGAGCAGGAGAGGAGCGAAAGGCCCCGAGCACCCGGACCCCAGGCTGGCCCTGGCCCTGGTGTTAGAGACGCAGCGGCCCCCGCTGAACCCCAGGCCCAGCATACCAGGAGCCGGGAAAGAGCAGACGGCACCGGTAAGGGAGCAGGCTGGGAAGCCCAGGCTGGGGATGTTCAGGGATAGCTGGGTGGGAACGGGGTTCAGCCACCCCTGGAGGGTCCCCCCGCCAGGTCCTCTGCAGTTCAGCATTGTGCAGCTCCCATGCTGTGCACAGGCGTCCATCCAGTGGGGCTACCCACCTCCTCAGAGCCTTGCACCTGTCACCTTTGTGGCACCCACTCGAGGTGGTGCTGGTGCCCCCACTCCTCTGCAGTCCTTCTCTTCCCAGGGCCTCTGCAGCACTTCACAGCTTCCATTTGCAACAGCGTCCAAACATGTGGAGTAAATTCACGGGCCCTCTGTAACCAACTAGGGTGGCAGGCCAGAGGTGACAGCCACACTCTCGGGAGTGAGGCCACATGCGGGCGAAGCCCTTGGTGCTGAGTTTCCCCTCTCCCTGAGGGAGACTTGTGAGGGACGGGCGTCCTTCACCTCCATCCTGAGGCGGGATGCTGGGGCCCTGGGTGTTCACAGGCAGAGCTGACTGAGGCCCTTGGTCTTCACAGGCCGAGCTGACTGAGGCCCTGGGTGTTCAAAGCAGAGCTGAGGCCCTTGGTGTTCACAGGCAGAGCTGACAGGCTTGTTGGTTCCTGGGTGGTGATGTGAGGGTGGTGGGTGTGAGCCAGGGGAGTCCGGCCCCTGGGCACCTTCTCCAGCTGACTCAGGCCTCGGTCAGCCTTCACTTTTGCTAGAGAGGCCGCTGCCAGGGAGGCTCAGTCCCAGCTCATCACTGCCCCTCCTGCCCATGCAGAAGCCCCAGACCCATGGTGAGTGCCTGCTGTGTACACCAGCCTTTTCCATGTGCCTGCAGGACTCCTCATGGCAGTCCTGAGAGGGGAAACTGAGACACCGAGTCTAGGTGACTTGCCCAAGAGACCCAGCGGGTGAGAGACGAGGTGCTCGAGTGGTCCAGGTTTCCTTCTTGTCCCAGTCACCCCACTGGCAGGGCCGTGGGGCCTCCCTGCTGTGGTCGCAGCGCGCTGAGGCTCCCATGTACCACTTATGCTGGGCGTGCCCTTGGAAACTCACTGCAGCCCTGGGCCCTGTTTGTCTTTGCATCTCCTTAAAAGATCACTGTGCTCCTCTGCTTTGTTTTGGAGGCCTCTGGGCGGATGAGGGCCTGACCCCGGGATTTGGGCCCAGCCTCACGGCTTCAGGGGAACAGATACCAGGGCTCGGAAGCTTGGTTTCAATCTGGGTAATGAGAACAGCCCGCAAAGGACAGAGTCCAAGACTGTGTGTTTCAGATAAGAAGAGTCAGGAAGCAGCTGTGGTTTGTTTGGCTTCGGTCTCCAATGTGGGGGTGGTGAAGAGCAAGCCCTGGGCGCCGCCTGACAGCCCAGTCCCCACCACTGGGCCTGCAGCTGGGGGCAGTGGGCATCCCGTCTCCCAGTCACTGGTCACTGATGTGGCCAAAGCAGGCCTGGCCCTGCATGCCCAGTGGCCGCAGGGAGGGCAGGGCCCAGGGTCCCTGCCAGTAGCAGCTGCTGCGAGAATCTGTTATTTAGCTCCCCCATCCAGCCAACATAGGTGGGTGAGCATCAGTTGAAATACCAATAGGTAACAACAAGGGTAGCTATTTAACTGACACTTCCCCGAGCTAGGCATCTTTTTAGGGCATTAGCCCACTTGCCTCTTTAACAGCCCTGGGAGGCAGGCTCTGCTGCTGCCCTGTTTTTCAGATGGGAAACCGAGGGATAGAGGGCTTAAGTAGATGACCCAGCGTCCCGTGGTTGGTGAAGGGTGGAGGGGAGATTTAAACATACCGTGGAGCCTGTGCTCACTATGGGCCTCAGGTCATCTGCGCCCAGGGATCCCCATGTCCCAGGCTCAGAGAAGTGCACAGAGCAGGTTGGCCTGTCCCTAGATCAGTGCCTGGCCAGGCCCTGGTGACAGGAGTGAAGGCTCAGTC | TGCACCTGGGGGATGCACCCGGGGGTGCTTGACCATGCATGGTTTGCACCTGGGGGATGCACGGGGGTGGGGTGGGGGGGGGGGGTGTGCTTGACCATGCATGGTTTGCACCTGGGGGATGTTTTACACTAAGGGCTCAGTCCCTCTGAGGGAGGAACGTGTGGATTGAAATCTGCAGAGTTCTTGAGCGACACCAGTCTGATCTTTAGGACTCATTTGCAGCGGGAATGGAGCAGAAATTGTTGTGTGTGGAGCCTGGGGCCACTCCTGACTCTTCCAGTCACAGCTGCCCCCAAAAGTGACCTCTGGGCACCTACTCAGACCTGGCTGCTCAGTGCCAAGCGCTGGGTGTTCAGAGGTGGCCAGGGGACTCCCTCGTGCTGCCCATGGTGTCTGGTCTCACTGGTCCTCACAGTTGCCCCGTCCCCATTTTCAGATGAGGAGGCTGAGGTGCAGAGCGGGATGTGGGCTGCTCAGGACCACACAGCTGGTGGGCACAGAGCCAGGAGTACAGCGCTGCGGCAGCTTGGGGCTGGGAGCGAGACTCTCTGTTACCAGCCTCTCCCTGCTCTGTGCCTCAGAGGATGGCTGTGGCCCTGAGCTTGGGAGGGTCATTTGGGAATCTGAGGAAAAGTTTCCACAGCCTCACACAGCAGCAGGTTCAAGGTCCAGCAGTGCCAGGGGTTTGCATCCCACCCCTAACGCCGCTCATCCAGGGCCCATCCGGGTCCGGGGCTCGGGATCCTGCAGCGCTTTCAGCTCTGTGTCTGTGGCCGGTGGTTGTCCTTCATTACAGGGATGGTGGTGTTTTTCCATGTTGCTAAGCAGCATGTGAGGGCCTCTGTTGAATAAAATAAAGCCCTTGCTCCGGCGTGACACGGGTCACGGGATCTCTGCTCACTCTAGTCTCTTCTGATGCCCCCACCGCACTGTTTGCCTTAGTTTGCTTTTTACTCTCTGTGTTGGTTTCTGGGGCATCAGTCCTCTGACTTCGGTGCTGTGGCTTGGGCCTGGGGTGGGGGCTGTGGAGCGGCAGATCTGGGTATGAATCCCAGCTCCACCCATTTGGCTCCCTCTCTTCTCTCCCCTGCCCTCTTCTCCCCTCCCCAGCTCCCTTCCCCTCTCATATTTACTTAACTTTACTCAGTACCAGCGTATTAGTTTTCTAGGGCTTCCGTAAGAAACTACTGGAAACTTGGTGGCTTAAAACAACAGAGGTTTGTTCTCTGATGGTTCTGGAGGCAGAAGTCTGAAGTCAAGGTGTGGGCAGGGTGGGTCCCTCCTGGAGGCTCTGAGGGAGGCTCAGTTCCTCGCCTCTGTCCAGCTTCTGGCAGTGGCCAGTGGTCCTCCTGCTCCTTGGCCACTGTCACCCGTCTCCGCATGGCTCTGTTACACTTCTCTTCCTATAGGCCATCAGCTCTTGGAGCCAGGGCTTCCCTACTCCAGGCTGATCTCATTTCAAGATCCTTAAATACATCTTCAAAGACCTGTTTTTCCAAATAAGGGCACATTCACAGACATTGGTGGGCACATGATGTGGGGCCCAATTCAGCCCCCTGCAGCCAGGCTCCACATGGGTGGGCTCTGGGTGTTGCTATCATCATCCCCGTTTCTTGGATGAGGGAAGGCCAGGGTTGTGTGGCTCATGCCCAGTGAGGCAGGGACTCCAGGCCTCGGCATGTGCAGGTCTGAGATTGTAAGTGCCATGCCATCTGTAGAGTCACGTGGGTGAGTGTCCTCCCATGGTTTCCTCCCTGGAAGCGGTGCTGGCCCATGGGGACTGTACTGAGTGTCAGCGAGATCCTGTATGGAGTGTCTGGCAGCTCCCACCTGCCTCCCTCTGCTTTTCTGTCTCCAGCAGACACTAAGTGCCAGAGCGGGCTCTGCCGGTGCTGGATGTGCCTGACCTTGACTTTTCTTCCAGGCAGGATGGACTCCAACACTGCTCCGCTGGGCCCCTCCTGCCCACAGCCCCCGCCAGCACCGCAGCCCCAGGCGCGTTCCCGACTCAATGCCACAGCCTCGTTGGAGCAGGAGAGGAGCGAAAGGCCCGAGCACCCGGACCCCAGGCTGGCCCTGGCCCTGGTGTTAGAGACGCAGCGGCCCCCGCTGAACCCCAGGCCCAGCATACCAGGAGCCGGGAAAGAGCAGACGGCACCGGTAAGGGAGCAGGCTGGGAAGCCCAGGCTGGGGATGTTCAGGGATAGCTGGGTGGGAACGGGGTTCAGCCACCCCTGGAGGGTCCCCCCGCCAGGTCCTCTGCAGTTCAGCATTGTGCAGCTCCCATGCTGTGCACAGGCGTCCATCCAGTGGGGCTACCCACCTCCTCAGAGCCTTGCACCTGTCACCTTTGTGGCACCCACTCGAGGTGGTGCTGGTGCCCCCACTCCTCTGCAGTCCTTCTCTTCCCAGGGCCTCTGCAGCACTTCACAGCTTCCATTTGCAACAGCGTCCAAACATGTGGAGTAAATTCACGGGCCCTCTGTAACCAACTAGGGTGGCAGGCCAGAGGTGACAGCCACACTCTCGGGAGTGAGGCCACATGCGGGCGAAGCCCTTGGTGCTGAGTTTCCCCTCTCCCTGAGGGAGACTTGTGAGGGACGGGCGTCCTTCACCTCCATCCTGAGGCGGGATGCTGGGGCCCTGGGTGTTCACAGGCAGAGCTGACTGAGGCCCTTGGTCTTCACAGGCCGAGCTGACTGAGGCCCTGGGTGTTCAAAGCAGAGCTGAGGCCCTTGGTGTTCACAGGCAGAGCTGACAGGCTTGTTGGTTCCTGGGTGGTGATGTGAGGGTGGTGGGTGTGAGCCAGGGGAGTCCGGCCCCTGGGCACCTTCTCCAGCTGACTCAGGCCTCGGTCAGCCTTCACTTTTGCTAGAGAGGCCGCTGCCAGGGAGGCTCAGTCCCAGCTCATCACTGCCCCTCCTGCCCATGCAGAAGCCCCAGACCCATGGTGAGTGCCTGCTGTGTACACCAGCCTTTTCCATGTGCCTGCAGGACTCCTCATGGCAGTCCTGAGAGGGGAAACTGAGACACCGAGTCTAGGTGACTTGCCCAAGAGACCCAGCGGGTGAGAGACGAGGTGCTCGAGTGGTCCAGGTTTCCTTCTTGTCCCAGTCACCCCACTGGCAGGGCCGTGGGGCCTCCCTGCTGTGGTCGCAGCGCGCTGAGGCTCCCATGTACCACTTATGCTGGGCGTGCCCTTGGAAACTCACTGCAGCCCTGGGCCCTGTTTGTCTTTGCATCTCCTTAAAAGATCACTGTGCTCCTCTGCTTTGTTTTGGAGGCCTCTGGGCGGATGAGGGCCTGACCCCGGGATTTGGGCCCAGCCTCACGGCTTCAGGGGAACAGATACCAGGGCTCGGAAGCTTGGTTTCAATCTGGGTAATGAGAACAGCCCGCAAAGGACAGAGTCCAAGACTGTGTGTTTCAGATAAGAAGAGTCAGGAAGCAGCTGTGGTTTGTTTGGCTTCGGTCTCCAATGTGGGGGTGGTGAAGAGCAAGCCCTGGGCGCCGCCTGACAGCCCAGTCCCCACCACTGGGCCTGCAGCTGGGGGCAGTGGGCATCCCGTCTCCCAGTCACTGGTCACTGATGTGGCCAAAGCAGGCCTGGCCCTGCATGCCCAGTGGCCGCAGGGAGGGCAGGGCCCAGGGTCCCTGCCAGTAGCAGCTGCTGCGAGAATCTGTTATTTAGCTCCCCCATCCAGCCAACATAGGTGGGTGAGCATCAGTTGAAATACCAATAGGTAACAACAAGGGTAGCTATTTAACTGACACTTCCCCGAGCTAGGCATCTTTTTAGGGCATTAGCCCACTTGCCTCTTTAACAGCCCTGGGAGGCAGGCTCTGCTGCTGCCCTGTTTTTCAGATGGGAAACCGAGGGATAGAGGGCTTAAGTAGATGACCCAGCGTCCCGTGGTTGGTGAAGGGTGGAGGGGAGATTTAAACATACCGTGGAGCCTGTGCTCACTATGGGCCTCAGGTCATCTGCGCCCAGGGATCCCCATGTCCCAGGCTCAGAGAAGTGCACAGAGCAGGTTGGCCTGTCCCTAGATCAGTGCCTGGCCAGGCCCTGGTGACAGGAGTGAAGGCTCAGTCN | pathogenic | 79,963 |
The genetic variant at chromosome 4, position 6289078, affecting gene WFS1 (wolframin ER transmembrane glycoprotein): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Retinal_dystrophy', 'Type_2_diabetes_mellitus', 'WFS1-Related_Spectrum_Disorders', 'Wolfram-like_syndrome', 'Wolfram_syndrome', 'Wolfram_syndrome_1'] | CCATCCTGACAAGTGACAAAGTCTGGCTTTGTGACATGTGTGTTTGTTTCTTCTGTGTTAAAGGGCCTACAAAGGGAGACATGGAAATCCCCTTTGAAGAAGTCCTGGAGAGGGCCAAGGCCGGGGACCCCAAGGCACAGACTGAGGTGAGGACTGCGGTGCCGGCAGGGACTTCGGGACGCGGCCCCCGGCACAACAGGCCTGGCCACGAGCTCCACAGCCCACAGAGAAGTGTCGGTGCCTGAGATCGGGGTCAGGAGCCAGCGTGGTGCACCCTACCCCACTTGAGCCCCATGTTGGTAGGGTGCCCATGTTCACTGTGCCAGTTTTCCTCCTGGCACTCCTCTGGGGAGCAGCGCTCATCCCCCTTTTGTCCAACTCACACCTCATCTTGGGCATCACCTCCTCCAGGATGACCTCCTGGCTTCCTGCAGCTGCCTGCTCAGTGCCACCCCTCAACATACACTGTGTATGCTGCCCACTCTTGTCTCCCTGACTGGCCTTTCACCTGGCTGTTAGCTGTGTGCACGGGGCCCTCAGAGCGGTGACCATTCACTTGGGCATCAGCCAAGGGCTGGGCTTTGTGCCAGTGCTGGGGACATGATGTGGCCCTCTCTTCATGGGTGACAGGTTAGTGGAAGAAGCAGACCCAAAAAACCCAAGTAGACAAGACACAGAAATACAGTGATTTTGAATTCTGGTGAGGGGAGAAGCCAGCAGAACGCTGAGACGGGAGGTGGCAGGGGGTCCTGTGTCCTCTGTGGAGGCAAGTTCTCACCACCTCACTCTGTCCCCTTGCACAGGGCTCAAGCAAGTGACCACAGTTATCCTGAGCAGTTTCCTGCCCCCTCTTCTCCCTAAAGAGGAGAAAAGCTTCCACGCGAAACCATAAATTAAGAATTTCTGGCTGGGAGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGTGACCAGCCTGGCCAACATGATGAAACCGTGTCTCCACTACAAATAGAAAAATTAGCCAGACATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAAAATCACTTGAACCCAGGAAGTGGAGGTTGCAGTGAGCCGAGATCGCACCACCACGCTCCCAACTGAGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATTTCTTTCCTGACCTCACAGCCATATTGTACTTTAAAGTTCCTCCCACATCCTTTTGCCCAGGCATTTGGAGGCGGGGGGAGCATAGTAAGCCCTTTTATGGGCTCTCTGTGCCCTGGGCCTCACTTTTTCCATCTGTAGAATGAGAAGACTGGACCATTTCAGCAGGGATTCTTTTTGCAAAGGGCCAGATAGTGAATATTCTGGACTCTGCGCAATCTCTGCCGTGTTGCTCAGCTTTGCTGTGGAGCACGTAAAAGCAGCATGGACAACATGTAAATGAATGGTTATGGTTGTATTTCAATAAAACTTTATTTGCAAAAACAGGCAGTGGGCCAGTGCTAACCCTTGGTTAGCTGGCGTCTCTCCAGCCCTGGCTTTCTATGGTCCCCTGACTGTTTTGAGAGGTGTAAAGGACCCAGTCATGGTTCTGATTTCCATGCATTGATGGTGAGCCTTGGCAGGCAGGAGCAACTCAAGGAAGAGAACCTGTACCAGTACCAGTCGGAGCCCGTGTCTCCCTCGCCGTGTGGATGGGGTGGCCACACCTTCCTCACCGTGTTTTGAGGAGCGAGTGGCCGGAGGCTCAGTAGGGCCTAGCCTAGTGGACATGCCTGGTGTGACCCCATTTCTGCCCCTTCCTTCCTGGCCTGGGTGACAAAGGGAAGTGGGTGAAAGGAGGTGGGCTGGCAGGGAGCATGGGGTGGGAGAGGGTCGGAGAATCTGGAGGCTGACTGGTGTCTGGCTTGCAGGTGGGGAAGCACTACCTGCAGTTGGCCGGCGACACGGATGAAGAACTCAACAGCTGCACCGCTGTGGACTGGCTGGTCCTCGCCGCGAAGCAGGGCCGTCGCGAGGCTGTGAAGCTGCTTCGCCGGTGCTTGGCGGACAGAAGAGGTGGGTCTGTGTGAGGCTTAGAACAGCCTCTGGAGGGTTGAGCAGCTTGTAATGCTGCTTGCTAACTGAACAACTAAAATCTTACCAAACCTAACGCTGGTGATGCTGTTGGGAAATTTCAGTTTCTGTTTTGCTGGTGGCCTTCTCATTTTAGACACTGTTTCTGGACTTAACATGGGATATTTAACAGACCAAGCCATTTTCATTCTCTTTGGCTTGTGTTGGTATCTCCAAGTGGTAACTATACATCCTGCTTCCCTGCTGGGTTCTGATCCAAACTGAGACATCGATCCTGGGTTCAGCTGAGAGGCAGTTTCCCTGAGGCAAAGCTGGAGACTGTAATGTGGCCTGCAGTCAGAGTGGCCCATGCCCCTGAGCTGATGTCCGTCGAGTCTGGGCAGACCAGCTGAGGGGCTGTGGGCCCACACAGACCTGGACAAGCATGTTCACTTTGGGAGGAGGCAGGCTGACCCTTCATAGATAATCTCTTTCAAACAGAGAGGCAGGGGAGGAAAGGGACGCAGCTCAGGCCAGGGGTGGTGAGTTAGGACGTTGTCCTGCGCAAGGGAAGTGGCTGTCCCTGGTGCCGTGGGGCAGTGTGCTTCCTGAAGGTTCCACGCCTCAGGGAAAGATGAAAGTGGGTGTCACAAAGGTGTTTTTTCTAATGATACCTTTTTTTTCAGATTGTAAGAGTATTTTATGCTTATCATAGAAAACTTGGACTATGTAGAAAACATAAAGATACAAATTACTCATAACCTTGAAGCCCAGAAGCAACTCCCCATATTTTGGTGTATTTCCTTCTGTGTTTGTTGTTGTTGTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAGGGGTGCGATCTCAAGTCACTGTAACCTCCACCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTTTTGAGTAGCTGAGATTACAGGCGTGCATTACCACACCTAGCTAATTTTTGTATTTTTAGCAGAGACAGGGTTTCATCAGGTTGGCCAGGCTGGTCACAAACTCCTGACCTCAGGGGATCCACCCTCCTTGGCCTCCCAAAGTGATGAGAGTACAGGCGTGAGCCACCATGCCCAGCTTGTATCATATTTTAAGAGTTACATTTATTATACAGAGTCTTCTCTTTGAAAATTAAACTGATGATTTTGAAAAACTAACAGTGGCATTGTTAGCCAGAATTTCTCACCAACCCAGCCTGCTGATTCCAGAGCAGTTGGAATGACCTGGAGGGGGCTCAGGCGGCCCACACGGCTCATTGTTGGGTGCCAGGGATAGCCCAGAGGCTGCTGGGGCAGAGCGTGCAAGGGAGGAGGCCGGTTGGCCCCGTGTTCCCCCAGCTGCACACACCTTCTGATGTGCAGTTGTGCTTTCTGATTTGAAAAGAAATACATGCTCATGTGGAAAATTTTGGAAATGTTCAAAAGGAGAAAAACATCCAGACCCCCGTGCCAGTCCTCCTGCCCTCTGCTTGGTTGTGCCAGTGTCCCAGGCCGTTGGGGGTAAAGGGAGGAAGGCAGCTGCTGACCAGCGGTAAAACCTGCTCTCCCTCTCCCCGCTGTCCAAGCCTTCCTTAGAAAGGGCTGGGCTGTGTGTGAGACAGAGGAAAGCTCTGTAGACACAGGGGTGGCCCTGCCAGTGCACCCAGGCTGGTGACTGCAGTGAGTCCACCCTGGGTTCAAGACAGCTCTGCCTCTTTCTGACTGTGTGACCTTGAGTGAGCCAGAACACAGGCCTGTGCCTCCGGGTCTGCACCTCTGAGAGAGGGGAGGAACAGGAAGAGGCTGCCTTCTTCCCGCCAGCATGTAGGGGGCACTTGGGGGCGTCTGGTGGGAGACCAGTCTGGCCTCCCAGCTGGAGAGTGGGCGTGGCGCGATGTCCTCTTGAGTCAGATGTCCATGCATCCTTCCCTGGTAACCAAGTCCTGACACCTTCTATGAGTCTCGCTCGAAAGCCTTCCAGGCAGAGT | CCATCCTGACAAGTGACAAAGTCTGGCTTTGTGACATGTGTGTTTGTTTCTTCTGTGTTAAAGGGCCTACAAAGGGAGACATGGAAATCCCCTTTGAAGAAGTCCTGGAGAGGGCCAAGGCCGGGGACCCCAAGGCACAGACTGAGGTGAGGACTGCGGTGCCGGCAGGGACTTCGGGACGCGGCCCCCGGCACAACAGGCCTGGCCACGAGCTCCACAGCCCACAGAGAAGTGTCGGTGCCTGAGATCGGGGTCAGGAGCCAGCGTGGTGCACCCTACCCCACTTGAGCCCCATGTTGGTAGGGTGCCCATGTTCACTGTGCCAGTTTTCCTCCTGGCACTCCTCTGGGGAGCAGCGCTCATCCCCCTTTTGTCCAACTCACACCTCATCTTGGGCATCACCTCCTCCAGGATGACCTCCTGGCTTCCTGCAGCTGCCTGCTCAGTGCCACCCCTCAACATACACTGTGTATGCTGCCCACTCTTGTCTCCCTGACTGGCCTTTCACCTGGCTGTTAGCTGTGTGCACGGGGCCCTCAGAGCGGTGACCATTCACTTGGGCATCAGCCAAGGGCTGGGCTTTGTGCCAGTGCTGGGGACATGATGTGGCCCTCTCTTCATGGGTGACAGGTTAGTGGAAGAAGCAGACCCAAAAAACCCAAGTAGACAAGACACAGAAATACAGTGATTTTGAATTCTGGTGAGGGGAGAAGCCAGCAGAACGCTGAGACGGGAGGTGGCAGGGGGTCCTGTGTCCTCTGTGGAGGCAAGTTCTCACCACCTCACTCTGTCCCCTTGCACAGGGCTCAAGCAAGTGACCACAGTTATCCTGAGCAGTTTCCTGCCCCCTCTTCTCCCTAAAGAGGAGAAAAGCTTCCACGCGAAACCATAAATTAAGAATTTCTGGCTGGGAGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGTGACCAGCCTGGCCAACATGATGAAACCGTGTCTCCACTACAAATAGAAAAATTAGCCAGACATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAAAATCACTTGAACCCAGGAAGTGGAGGTTGCAGTGAGCCGAGATCGCACCACCACGCTCCCAACTGAGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATTTCTTTCCTGACCTCACAGCCATATTGTACTTTAAAGTTCCTCCCACATCCTTTTGCCCAGGCATTTGGAGGCGGGGGGAGCATAGTAAGCCCTTTTATGGGCTCTCTGTGCCCTGGGCCTCACTTTTTCCATCTGTAGAATGAGAAGACTGGACCATTTCAGCAGGGATTCTTTTTGCAAAGGGCCAGATAGTGAATATTCTGGACTCTGCGCAATCTCTGCCGTGTTGCTCAGCTTTGCTGTGGAGCACGTAAAAGCAGCATGGACAACATGTAAATGAATGGTTATGGTTGTATTTCAATAAAACTTTATTTGCAAAAACAGGCAGTGGGCCAGTGCTAACCCTTGGTTAGCTGGCGTCTCTCCAGCCCTGGCTTTCTATGGTCCCCTGACTGTTTTGAGAGGTGTAAAGGACCCAGTCATGGTTCTGATTTCCATGCATTGATGGTGAGCCTTGGCAGGCAGGAGCAACTCAAGGAAGAGAACCTGTACCAGTACCAGTCGGAGCCCGTGTCTCCCTCGCCGTGTGGATGGGGTGGCCACACCTTCCTCACCGTGTTTTGAGGAGCGAGTGGCCGGAGGCTCAGTAGGGCCTAGCCTAGTGGACATGCCTGGTGTGACCCCATTTCTGCCCCTTCCTTCCTGGCCTGGGTGACAAAGGGAAGTGGGTGAAAGGAGGTGGGCTGGCAGGGAGCATGGGGTGGGAGAGGGTCGGAGAATCTGGAGGCTGACTGGTGTCTGGCTTGCAGGTGGGGAAGCACTACCTGCAGTTGGCCGGCGACACGGATGAAGAACTCAACAGCTGCACCGCTGTGGACTGGCTGGTCCTCGCCGCGAAGCAGGGCCGTCGCGAGGCTGGGCCGTCGCGAGGCTGTGAAGCTGCTTCGCCGGTGCTTGGCGGACAGAAGAGGTGGGTCTGTGTGAGGCTTAGAACAGCCTCTGGAGGGTTGAGCAGCTTGTAATGCTGCTTGCTAACTGAACAACTAAAATCTTACCAAACCTAACGCTGGTGATGCTGTTGGGAAATTTCAGTTTCTGTTTTGCTGGTGGCCTTCTCATTTTAGACACTGTTTCTGGACTTAACATGGGATATTTAACAGACCAAGCCATTTTCATTCTCTTTGGCTTGTGTTGGTATCTCCAAGTGGTAACTATACATCCTGCTTCCCTGCTGGGTTCTGATCCAAACTGAGACATCGATCCTGGGTTCAGCTGAGAGGCAGTTTCCCTGAGGCAAAGCTGGAGACTGTAATGTGGCCTGCAGTCAGAGTGGCCCATGCCCCTGAGCTGATGTCCGTCGAGTCTGGGCAGACCAGCTGAGGGGCTGTGGGCCCACACAGACCTGGACAAGCATGTTCACTTTGGGAGGAGGCAGGCTGACCCTTCATAGATAATCTCTTTCAAACAGAGAGGCAGGGGAGGAAAGGGACGCAGCTCAGGCCAGGGGTGGTGAGTTAGGACGTTGTCCTGCGCAAGGGAAGTGGCTGTCCCTGGTGCCGTGGGGCAGTGTGCTTCCTGAAGGTTCCACGCCTCAGGGAAAGATGAAAGTGGGTGTCACAAAGGTGTTTTTTCTAATGATACCTTTTTTTTCAGATTGTAAGAGTATTTTATGCTTATCATAGAAAACTTGGACTATGTAGAAAACATAAAGATACAAATTACTCATAACCTTGAAGCCCAGAAGCAACTCCCCATATTTTGGTGTATTTCCTTCTGTGTTTGTTGTTGTTGTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAGGGGTGCGATCTCAAGTCACTGTAACCTCCACCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTTTTGAGTAGCTGAGATTACAGGCGTGCATTACCACACCTAGCTAATTTTTGTATTTTTAGCAGAGACAGGGTTTCATCAGGTTGGCCAGGCTGGTCACAAACTCCTGACCTCAGGGGATCCACCCTCCTTGGCCTCCCAAAGTGATGAGAGTACAGGCGTGAGCCACCATGCCCAGCTTGTATCATATTTTAAGAGTTACATTTATTATACAGAGTCTTCTCTTTGAAAATTAAACTGATGATTTTGAAAAACTAACAGTGGCATTGTTAGCCAGAATTTCTCACCAACCCAGCCTGCTGATTCCAGAGCAGTTGGAATGACCTGGAGGGGGCTCAGGCGGCCCACACGGCTCATTGTTGGGTGCCAGGGATAGCCCAGAGGCTGCTGGGGCAGAGCGTGCAAGGGAGGAGGCCGGTTGGCCCCGTGTTCCCCCAGCTGCACACACCTTCTGATGTGCAGTTGTGCTTTCTGATTTGAAAAGAAATACATGCTCATGTGGAAAATTTTGGAAATGTTCAAAAGGAGAAAAACATCCAGACCCCCGTGCCAGTCCTCCTGCCCTCTGCTTGGTTGTGCCAGTGTCCCAGGCCGTTGGGGGTAAAGGGAGGAAGGCAGCTGCTGACCAGCGGTAAAACCTGCTCTCCCTCTCCCCGCTGTCCAAGCCTTCCTTAGAAAGGGCTGGGCTGTGTGTGAGACAGAGGAAAGCTCTGTAGACACAGGGGTGGCCCTGCCAGTGCACCCAGGCTGGTGACTGCAGTGAGTCCACCCTGGGTTCAAGACAGCTCTGCCTCTTTCTGACTGTGTGACCTTGAGTGAGCCAGAACACAGGCCTGTGCCTCCGGGTCTGCACCTCTGAGAGAGGGGAGGAACAGGAAGAGGCTGCCTTCTTCCCGCCAGCATGTAGGGGGCACTTGGGGGCGTCTGGTGGGAGACCAGTCTGGCCTCCCAGCTGGAGAGTGGGCGTGGCGCGATGTCCTCTTGAGTCAGATGTCCATGCATCCTTCCCTGGTAACCAAGTCCTGACACCTTCTATGAGTCTCGCTCGAAA | pathogenic | 79,992 |
A mutation at chromosome position 6289108 on chromosome 4 in gene WFS1 (wolframin ER transmembrane glycoprotein): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Optic_atrophy', 'Wolfram_syndrome_1'] | GTGACATGTGTGTTTGTTTCTTCTGTGTTAAAGGGCCTACAAAGGGAGACATGGAAATCCCCTTTGAAGAAGTCCTGGAGAGGGCCAAGGCCGGGGACCCCAAGGCACAGACTGAGGTGAGGACTGCGGTGCCGGCAGGGACTTCGGGACGCGGCCCCCGGCACAACAGGCCTGGCCACGAGCTCCACAGCCCACAGAGAAGTGTCGGTGCCTGAGATCGGGGTCAGGAGCCAGCGTGGTGCACCCTACCCCACTTGAGCCCCATGTTGGTAGGGTGCCCATGTTCACTGTGCCAGTTTTCCTCCTGGCACTCCTCTGGGGAGCAGCGCTCATCCCCCTTTTGTCCAACTCACACCTCATCTTGGGCATCACCTCCTCCAGGATGACCTCCTGGCTTCCTGCAGCTGCCTGCTCAGTGCCACCCCTCAACATACACTGTGTATGCTGCCCACTCTTGTCTCCCTGACTGGCCTTTCACCTGGCTGTTAGCTGTGTGCACGGGGCCCTCAGAGCGGTGACCATTCACTTGGGCATCAGCCAAGGGCTGGGCTTTGTGCCAGTGCTGGGGACATGATGTGGCCCTCTCTTCATGGGTGACAGGTTAGTGGAAGAAGCAGACCCAAAAAACCCAAGTAGACAAGACACAGAAATACAGTGATTTTGAATTCTGGTGAGGGGAGAAGCCAGCAGAACGCTGAGACGGGAGGTGGCAGGGGGTCCTGTGTCCTCTGTGGAGGCAAGTTCTCACCACCTCACTCTGTCCCCTTGCACAGGGCTCAAGCAAGTGACCACAGTTATCCTGAGCAGTTTCCTGCCCCCTCTTCTCCCTAAAGAGGAGAAAAGCTTCCACGCGAAACCATAAATTAAGAATTTCTGGCTGGGAGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGTGACCAGCCTGGCCAACATGATGAAACCGTGTCTCCACTACAAATAGAAAAATTAGCCAGACATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAAAATCACTTGAACCCAGGAAGTGGAGGTTGCAGTGAGCCGAGATCGCACCACCACGCTCCCAACTGAGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATTTCTTTCCTGACCTCACAGCCATATTGTACTTTAAAGTTCCTCCCACATCCTTTTGCCCAGGCATTTGGAGGCGGGGGGAGCATAGTAAGCCCTTTTATGGGCTCTCTGTGCCCTGGGCCTCACTTTTTCCATCTGTAGAATGAGAAGACTGGACCATTTCAGCAGGGATTCTTTTTGCAAAGGGCCAGATAGTGAATATTCTGGACTCTGCGCAATCTCTGCCGTGTTGCTCAGCTTTGCTGTGGAGCACGTAAAAGCAGCATGGACAACATGTAAATGAATGGTTATGGTTGTATTTCAATAAAACTTTATTTGCAAAAACAGGCAGTGGGCCAGTGCTAACCCTTGGTTAGCTGGCGTCTCTCCAGCCCTGGCTTTCTATGGTCCCCTGACTGTTTTGAGAGGTGTAAAGGACCCAGTCATGGTTCTGATTTCCATGCATTGATGGTGAGCCTTGGCAGGCAGGAGCAACTCAAGGAAGAGAACCTGTACCAGTACCAGTCGGAGCCCGTGTCTCCCTCGCCGTGTGGATGGGGTGGCCACACCTTCCTCACCGTGTTTTGAGGAGCGAGTGGCCGGAGGCTCAGTAGGGCCTAGCCTAGTGGACATGCCTGGTGTGACCCCATTTCTGCCCCTTCCTTCCTGGCCTGGGTGACAAAGGGAAGTGGGTGAAAGGAGGTGGGCTGGCAGGGAGCATGGGGTGGGAGAGGGTCGGAGAATCTGGAGGCTGACTGGTGTCTGGCTTGCAGGTGGGGAAGCACTACCTGCAGTTGGCCGGCGACACGGATGAAGAACTCAACAGCTGCACCGCTGTGGACTGGCTGGTCCTCGCCGCGAAGCAGGGCCGTCGCGAGGCTGTGAAGCTGCTTCGCCGGTGCTTGGCGGACAGAAGAGGTGGGTCTGTGTGAGGCTTAGAACAGCCTCTGGAGGGTTGAGCAGCTTGTAATGCTGCTTGCTAACTGAACAACTAAAATCTTACCAAACCTAACGCTGGTGATGCTGTTGGGAAATTTCAGTTTCTGTTTTGCTGGTGGCCTTCTCATTTTAGACACTGTTTCTGGACTTAACATGGGATATTTAACAGACCAAGCCATTTTCATTCTCTTTGGCTTGTGTTGGTATCTCCAAGTGGTAACTATACATCCTGCTTCCCTGCTGGGTTCTGATCCAAACTGAGACATCGATCCTGGGTTCAGCTGAGAGGCAGTTTCCCTGAGGCAAAGCTGGAGACTGTAATGTGGCCTGCAGTCAGAGTGGCCCATGCCCCTGAGCTGATGTCCGTCGAGTCTGGGCAGACCAGCTGAGGGGCTGTGGGCCCACACAGACCTGGACAAGCATGTTCACTTTGGGAGGAGGCAGGCTGACCCTTCATAGATAATCTCTTTCAAACAGAGAGGCAGGGGAGGAAAGGGACGCAGCTCAGGCCAGGGGTGGTGAGTTAGGACGTTGTCCTGCGCAAGGGAAGTGGCTGTCCCTGGTGCCGTGGGGCAGTGTGCTTCCTGAAGGTTCCACGCCTCAGGGAAAGATGAAAGTGGGTGTCACAAAGGTGTTTTTTCTAATGATACCTTTTTTTTCAGATTGTAAGAGTATTTTATGCTTATCATAGAAAACTTGGACTATGTAGAAAACATAAAGATACAAATTACTCATAACCTTGAAGCCCAGAAGCAACTCCCCATATTTTGGTGTATTTCCTTCTGTGTTTGTTGTTGTTGTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAGGGGTGCGATCTCAAGTCACTGTAACCTCCACCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTTTTGAGTAGCTGAGATTACAGGCGTGCATTACCACACCTAGCTAATTTTTGTATTTTTAGCAGAGACAGGGTTTCATCAGGTTGGCCAGGCTGGTCACAAACTCCTGACCTCAGGGGATCCACCCTCCTTGGCCTCCCAAAGTGATGAGAGTACAGGCGTGAGCCACCATGCCCAGCTTGTATCATATTTTAAGAGTTACATTTATTATACAGAGTCTTCTCTTTGAAAATTAAACTGATGATTTTGAAAAACTAACAGTGGCATTGTTAGCCAGAATTTCTCACCAACCCAGCCTGCTGATTCCAGAGCAGTTGGAATGACCTGGAGGGGGCTCAGGCGGCCCACACGGCTCATTGTTGGGTGCCAGGGATAGCCCAGAGGCTGCTGGGGCAGAGCGTGCAAGGGAGGAGGCCGGTTGGCCCCGTGTTCCCCCAGCTGCACACACCTTCTGATGTGCAGTTGTGCTTTCTGATTTGAAAAGAAATACATGCTCATGTGGAAAATTTTGGAAATGTTCAAAAGGAGAAAAACATCCAGACCCCCGTGCCAGTCCTCCTGCCCTCTGCTTGGTTGTGCCAGTGTCCCAGGCCGTTGGGGGTAAAGGGAGGAAGGCAGCTGCTGACCAGCGGTAAAACCTGCTCTCCCTCTCCCCGCTGTCCAAGCCTTCCTTAGAAAGGGCTGGGCTGTGTGTGAGACAGAGGAAAGCTCTGTAGACACAGGGGTGGCCCTGCCAGTGCACCCAGGCTGGTGACTGCAGTGAGTCCACCCTGGGTTCAAGACAGCTCTGCCTCTTTCTGACTGTGTGACCTTGAGTGAGCCAGAACACAGGCCTGTGCCTCCGGGTCTGCACCTCTGAGAGAGGGGAGGAACAGGAAGAGGCTGCCTTCTTCCCGCCAGCATGTAGGGGGCACTTGGGGGCGTCTGGTGGGAGACCAGTCTGGCCTCCCAGCTGGAGAGTGGGCGTGGCGCGATGTCCTCTTGAGTCAGATGTCCATGCATCCTTCCCTGGTAACCAAGTCCTGACACCTTCTATGAGTCTCGCTCGAAAGCCTTCCAGGCAGAGTTGGCAGGGTCAGAGTGGCACCGAAAGCCTA | GTGACATGTGTGTTTGTTTCTTCTGTGTTAAAGGGCCTACAAAGGGAGACATGGAAATCCCCTTTGAAGAAGTCCTGGAGAGGGCCAAGGCCGGGGACCCCAAGGCACAGACTGAGGTGAGGACTGCGGTGCCGGCAGGGACTTCGGGACGCGGCCCCCGGCACAACAGGCCTGGCCACGAGCTCCACAGCCCACAGAGAAGTGTCGGTGCCTGAGATCGGGGTCAGGAGCCAGCGTGGTGCACCCTACCCCACTTGAGCCCCATGTTGGTAGGGTGCCCATGTTCACTGTGCCAGTTTTCCTCCTGGCACTCCTCTGGGGAGCAGCGCTCATCCCCCTTTTGTCCAACTCACACCTCATCTTGGGCATCACCTCCTCCAGGATGACCTCCTGGCTTCCTGCAGCTGCCTGCTCAGTGCCACCCCTCAACATACACTGTGTATGCTGCCCACTCTTGTCTCCCTGACTGGCCTTTCACCTGGCTGTTAGCTGTGTGCACGGGGCCCTCAGAGCGGTGACCATTCACTTGGGCATCAGCCAAGGGCTGGGCTTTGTGCCAGTGCTGGGGACATGATGTGGCCCTCTCTTCATGGGTGACAGGTTAGTGGAAGAAGCAGACCCAAAAAACCCAAGTAGACAAGACACAGAAATACAGTGATTTTGAATTCTGGTGAGGGGAGAAGCCAGCAGAACGCTGAGACGGGAGGTGGCAGGGGGTCCTGTGTCCTCTGTGGAGGCAAGTTCTCACCACCTCACTCTGTCCCCTTGCACAGGGCTCAAGCAAGTGACCACAGTTATCCTGAGCAGTTTCCTGCCCCCTCTTCTCCCTAAAGAGGAGAAAAGCTTCCACGCGAAACCATAAATTAAGAATTTCTGGCTGGGAGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGTGACCAGCCTGGCCAACATGATGAAACCGTGTCTCCACTACAAATAGAAAAATTAGCCAGACATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAAAATCACTTGAACCCAGGAAGTGGAGGTTGCAGTGAGCCGAGATCGCACCACCACGCTCCCAACTGAGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATTTCTTTCCTGACCTCACAGCCATATTGTACTTTAAAGTTCCTCCCACATCCTTTTGCCCAGGCATTTGGAGGCGGGGGGAGCATAGTAAGCCCTTTTATGGGCTCTCTGTGCCCTGGGCCTCACTTTTTCCATCTGTAGAATGAGAAGACTGGACCATTTCAGCAGGGATTCTTTTTGCAAAGGGCCAGATAGTGAATATTCTGGACTCTGCGCAATCTCTGCCGTGTTGCTCAGCTTTGCTGTGGAGCACGTAAAAGCAGCATGGACAACATGTAAATGAATGGTTATGGTTGTATTTCAATAAAACTTTATTTGCAAAAACAGGCAGTGGGCCAGTGCTAACCCTTGGTTAGCTGGCGTCTCTCCAGCCCTGGCTTTCTATGGTCCCCTGACTGTTTTGAGAGGTGTAAAGGACCCAGTCATGGTTCTGATTTCCATGCATTGATGGTGAGCCTTGGCAGGCAGGAGCAACTCAAGGAAGAGAACCTGTACCAGTACCAGTCGGAGCCCGTGTCTCCCTCGCCGTGTGGATGGGGTGGCCACACCTTCCTCACCGTGTTTTGAGGAGCGAGTGGCCGGAGGCTCAGTAGGGCCTAGCCTAGTGGACATGCCTGGTGTGACCCCATTTCTGCCCCTTCCTTCCTGGCCTGGGTGACAAAGGGAAGTGGGTGAAAGGAGGTGGGCTGGCAGGGAGCATGGGGTGGGAGAGGGTCGGAGAATCTGGAGGCTGACTGGTGTCTGGCTTGCAGGTGGGGAAGCACTACCTGCAGTTGGCCGGCGACACGGATGAAGAACTCAACAGCTGCACCGCTGTGGACTGGCTGGTCCTCGCCGCGAAGCAGGGCCGTCGCGAGGCTGTGAAGCTGCTTCGCGGTGCTTGGCGGACAGAAGAGGTGGGTCTGTGTGAGGCTTAGAACAGCCTCTGGAGGGTTGAGCAGCTTGTAATGCTGCTTGCTAACTGAACAACTAAAATCTTACCAAACCTAACGCTGGTGATGCTGTTGGGAAATTTCAGTTTCTGTTTTGCTGGTGGCCTTCTCATTTTAGACACTGTTTCTGGACTTAACATGGGATATTTAACAGACCAAGCCATTTTCATTCTCTTTGGCTTGTGTTGGTATCTCCAAGTGGTAACTATACATCCTGCTTCCCTGCTGGGTTCTGATCCAAACTGAGACATCGATCCTGGGTTCAGCTGAGAGGCAGTTTCCCTGAGGCAAAGCTGGAGACTGTAATGTGGCCTGCAGTCAGAGTGGCCCATGCCCCTGAGCTGATGTCCGTCGAGTCTGGGCAGACCAGCTGAGGGGCTGTGGGCCCACACAGACCTGGACAAGCATGTTCACTTTGGGAGGAGGCAGGCTGACCCTTCATAGATAATCTCTTTCAAACAGAGAGGCAGGGGAGGAAAGGGACGCAGCTCAGGCCAGGGGTGGTGAGTTAGGACGTTGTCCTGCGCAAGGGAAGTGGCTGTCCCTGGTGCCGTGGGGCAGTGTGCTTCCTGAAGGTTCCACGCCTCAGGGAAAGATGAAAGTGGGTGTCACAAAGGTGTTTTTTCTAATGATACCTTTTTTTTCAGATTGTAAGAGTATTTTATGCTTATCATAGAAAACTTGGACTATGTAGAAAACATAAAGATACAAATTACTCATAACCTTGAAGCCCAGAAGCAACTCCCCATATTTTGGTGTATTTCCTTCTGTGTTTGTTGTTGTTGTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAGGGGTGCGATCTCAAGTCACTGTAACCTCCACCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTTTTGAGTAGCTGAGATTACAGGCGTGCATTACCACACCTAGCTAATTTTTGTATTTTTAGCAGAGACAGGGTTTCATCAGGTTGGCCAGGCTGGTCACAAACTCCTGACCTCAGGGGATCCACCCTCCTTGGCCTCCCAAAGTGATGAGAGTACAGGCGTGAGCCACCATGCCCAGCTTGTATCATATTTTAAGAGTTACATTTATTATACAGAGTCTTCTCTTTGAAAATTAAACTGATGATTTTGAAAAACTAACAGTGGCATTGTTAGCCAGAATTTCTCACCAACCCAGCCTGCTGATTCCAGAGCAGTTGGAATGACCTGGAGGGGGCTCAGGCGGCCCACACGGCTCATTGTTGGGTGCCAGGGATAGCCCAGAGGCTGCTGGGGCAGAGCGTGCAAGGGAGGAGGCCGGTTGGCCCCGTGTTCCCCCAGCTGCACACACCTTCTGATGTGCAGTTGTGCTTTCTGATTTGAAAAGAAATACATGCTCATGTGGAAAATTTTGGAAATGTTCAAAAGGAGAAAAACATCCAGACCCCCGTGCCAGTCCTCCTGCCCTCTGCTTGGTTGTGCCAGTGTCCCAGGCCGTTGGGGGTAAAGGGAGGAAGGCAGCTGCTGACCAGCGGTAAAACCTGCTCTCCCTCTCCCCGCTGTCCAAGCCTTCCTTAGAAAGGGCTGGGCTGTGTGTGAGACAGAGGAAAGCTCTGTAGACACAGGGGTGGCCCTGCCAGTGCACCCAGGCTGGTGACTGCAGTGAGTCCACCCTGGGTTCAAGACAGCTCTGCCTCTTTCTGACTGTGTGACCTTGAGTGAGCCAGAACACAGGCCTGTGCCTCCGGGTCTGCACCTCTGAGAGAGGGGAGGAACAGGAAGAGGCTGCCTTCTTCCCGCCAGCATGTAGGGGGCACTTGGGGGCGTCTGGTGGGAGACCAGTCTGGCCTCCCAGCTGGAGAGTGGGCGTGGCGCGATGTCCTCTTGAGTCAGATGTCCATGCATCCTTCCCTGGTAACCAAGTCCTGACACCTTCTATGAGTCTCGCTCGAAAGCCTTCCAGGCAGAGTTGGCAGGGTCAGAGTGGCACCGAAAGCCTAN | pathogenic | 79,994 |
The chromosome 4, position 6291031 genetic variant in gene WFS1 (wolframin ER transmembrane glycoprotein): benign or pathogenic? If pathogenic, indicate disease(s). | benign | GCAGGTGGGGAAGCACTACCTGCAGTTGGCCGGCGACACGGATGAAGAACTCAACAGCTGCACCGCTGTGGACTGGCTGGTCCTCGCCGCGAAGCAGGGCCGTCGCGAGGCTGTGAAGCTGCTTCGCCGGTGCTTGGCGGACAGAAGAGGTGGGTCTGTGTGAGGCTTAGAACAGCCTCTGGAGGGTTGAGCAGCTTGTAATGCTGCTTGCTAACTGAACAACTAAAATCTTACCAAACCTAACGCTGGTGATGCTGTTGGGAAATTTCAGTTTCTGTTTTGCTGGTGGCCTTCTCATTTTAGACACTGTTTCTGGACTTAACATGGGATATTTAACAGACCAAGCCATTTTCATTCTCTTTGGCTTGTGTTGGTATCTCCAAGTGGTAACTATACATCCTGCTTCCCTGCTGGGTTCTGATCCAAACTGAGACATCGATCCTGGGTTCAGCTGAGAGGCAGTTTCCCTGAGGCAAAGCTGGAGACTGTAATGTGGCCTGCAGTCAGAGTGGCCCATGCCCCTGAGCTGATGTCCGTCGAGTCTGGGCAGACCAGCTGAGGGGCTGTGGGCCCACACAGACCTGGACAAGCATGTTCACTTTGGGAGGAGGCAGGCTGACCCTTCATAGATAATCTCTTTCAAACAGAGAGGCAGGGGAGGAAAGGGACGCAGCTCAGGCCAGGGGTGGTGAGTTAGGACGTTGTCCTGCGCAAGGGAAGTGGCTGTCCCTGGTGCCGTGGGGCAGTGTGCTTCCTGAAGGTTCCACGCCTCAGGGAAAGATGAAAGTGGGTGTCACAAAGGTGTTTTTTCTAATGATACCTTTTTTTTCAGATTGTAAGAGTATTTTATGCTTATCATAGAAAACTTGGACTATGTAGAAAACATAAAGATACAAATTACTCATAACCTTGAAGCCCAGAAGCAACTCCCCATATTTTGGTGTATTTCCTTCTGTGTTTGTTGTTGTTGTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAGGGGTGCGATCTCAAGTCACTGTAACCTCCACCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTTTTGAGTAGCTGAGATTACAGGCGTGCATTACCACACCTAGCTAATTTTTGTATTTTTAGCAGAGACAGGGTTTCATCAGGTTGGCCAGGCTGGTCACAAACTCCTGACCTCAGGGGATCCACCCTCCTTGGCCTCCCAAAGTGATGAGAGTACAGGCGTGAGCCACCATGCCCAGCTTGTATCATATTTTAAGAGTTACATTTATTATACAGAGTCTTCTCTTTGAAAATTAAACTGATGATTTTGAAAAACTAACAGTGGCATTGTTAGCCAGAATTTCTCACCAACCCAGCCTGCTGATTCCAGAGCAGTTGGAATGACCTGGAGGGGGCTCAGGCGGCCCACACGGCTCATTGTTGGGTGCCAGGGATAGCCCAGAGGCTGCTGGGGCAGAGCGTGCAAGGGAGGAGGCCGGTTGGCCCCGTGTTCCCCCAGCTGCACACACCTTCTGATGTGCAGTTGTGCTTTCTGATTTGAAAAGAAATACATGCTCATGTGGAAAATTTTGGAAATGTTCAAAAGGAGAAAAACATCCAGACCCCCGTGCCAGTCCTCCTGCCCTCTGCTTGGTTGTGCCAGTGTCCCAGGCCGTTGGGGGTAAAGGGAGGAAGGCAGCTGCTGACCAGCGGTAAAACCTGCTCTCCCTCTCCCCGCTGTCCAAGCCTTCCTTAGAAAGGGCTGGGCTGTGTGTGAGACAGAGGAAAGCTCTGTAGACACAGGGGTGGCCCTGCCAGTGCACCCAGGCTGGTGACTGCAGTGAGTCCACCCTGGGTTCAAGACAGCTCTGCCTCTTTCTGACTGTGTGACCTTGAGTGAGCCAGAACACAGGCCTGTGCCTCCGGGTCTGCACCTCTGAGAGAGGGGAGGAACAGGAAGAGGCTGCCTTCTTCCCGCCAGCATGTAGGGGGCACTTGGGGGCGTCTGGTGGGAGACCAGTCTGGCCTCCCAGCTGGAGAGTGGGCGTGGCGCGATGTCCTCTTGAGTCAGATGTCCATGCATCCTTCCCTGGTAACCAAGTCCTGACACCTTCTATGAGTCTCGCTCGAAAGCCTTCCAGGCAGAGTTGGCAGGGTCAGAGTGGCACCGAAAGCCTAGGCAGGGCACACAAGGCCTTTGACCACATCCTATCCCTCAGGCATCACGTCCGAGAACGAACGGGAGGTGAGGCAGCTCTCCTCCGAGACCGACCTGGAGAGGGCCGTGCGCAAGGCAGCCCTGGTCATGTACTGGAAGCTCAACCCCAAGAAGAAGAAGCAGGTGGCCGTGGCGGAGCTGCTGGAGAATGTCGGCCAGGTCAACGAGCACGGTGCGAGGATTCACCCTGGGCACCAGCCTTCCCTGGGCGCCAGCCTTCCCACAGGAGCCAGGACCTTCCCATAGGGGCTGGGACCTTCCCTCAGGGGCTGGGTCTTCCCACAGGAGCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGACCAGAACCTTCCTGTAGAGACCGTGCCCTAGTGGTGAGGTGTGTGGGTGGCATTTTGACAGCATCTGCCCTGGCTCAAGTGCTCACTCATTGAATAAACCAGAGGGTATTCTGCCCAGTGCTCTGTGACCACGTCTACCAATGGGACGGACTGTGTCCATCACCAAGTGGGAGCACGCTACGTGGTGCTGAGTCCACCCCAGCTACTGGAGGTACAGAGGTGTGGCCCCTGCTCTGCCTGCCCTGGGGGCCCTATGATCCCCAGAACGTAGGATGCCCCTGGAACTGGCGTGCCCTAGGAACAGTGCGCCAGTTTCTGGTGGGCTGCAGGGCACGAGGAGATAGTCAACTTGTCTGACTGTTAATCCACCCTGTCCCCTGCAGATGGAGGGGCGCAGCCAGGCCCCGTGCCCAAGTCCCTGCAGAAGCAGAGGCGCATGCTGGAGCGCCTGGTCAGCAGCGAGTGTGAGTGCAGCCCCTGCCCCGTCTCACCCATGCCTCCCAGCCTGCACCTGCAGGGCGACCTCTCCTTCCTGTGCGACTCCATCCTGGCCTGCCCTATCTCACCCGTGCCTCCCAGCCTGCGCCTGCAGGGCGACCTCTCCTTCCTGTGCGACCCCATCCTGGCCCTGCTAGGATCTCAGGCGGTCCGTTTGGGGCTCAGTGTTCTGGACGCTGGGAGTAGACCCTGCCCACCTGGAGCGCACGCACTGGAGGGAAGGCAGACCCAGGACAGAAACCATGATGTGCCAGTCCCTCTTGGACAAGGAAATACTGGGGGTGGGGACTGGCGGGGGGGTCCTGAGTGGGGAAGGATGAGGAGGGCATTAGGGGAAGGGGCTCCGGGCAGAGGGAACAGCATGAGCAAAGGCCCAGGAGACCCAGCAGGGTGTGGAAGGGGCTCTGCCCCAGCGTAGGCCCTTTGTAGGTAGGCAGGGAACAGAGTGGGCAGAGCCTAGGTTGGGGGATAGAGTCTCTGGGGCACACTGAGCTGGGGGTGCCTCTGGGATGTTTGTGGTCAAAGACTGAGAAGAGACGTCACATCCTCCACGTGCAGCTGGCCAGCCTCACTGTCTTCCATCCACGTGGGGTAGACTCTGCAGTCTGAGGCACTGGGAGCTCCTGTCCTGGAGAAGATAGACAGGCAGGAGGCTTGGGGGCTCAGTATCAATGGGGGGATGGGCCAAGACCCAGGTCTGCCACAGACTCTTCTTGTGACATGGGCAGGTCTCATTTTTCTTTCTGGGTGTCAGTTTCCCCTTCTGAACAGTGAGATGATCAGACAAGGGGACTGAAGGACCTCGCCCATCCTAGAAGCCTCTGTGGCATGTAGGGCAGAGTACAGGTGGGAGCACAGATCCCACCTTCCCACTGGGCCCGTGAGGAAACCGTCCATAGGGTGTGGTCAGAGCCCTCGCCTCTGCGTGGGCGGACATGGGTGCTTGCGCTGCTGTTTTCCTGCTCCATTTGGGGGAGACAAAGAAACACCTCACATGGAAGTGGGAAGAAATCTGTGACTCTAGGAAGCCCGAGGACCAGAGAGGCT | GCAGGTGGGGAAGCACTACCTGCAGTTGGCCGGCGACACGGATGAAGAACTCAACAGCTGCACCGCTGTGGACTGGCTGGTCCTCGCCGCGAAGCAGGGCCGTCGCGAGGCTGTGAAGCTGCTTCGCCGGTGCTTGGCGGACAGAAGAGGTGGGTCTGTGTGAGGCTTAGAACAGCCTCTGGAGGGTTGAGCAGCTTGTAATGCTGCTTGCTAACTGAACAACTAAAATCTTACCAAACCTAACGCTGGTGATGCTGTTGGGAAATTTCAGTTTCTGTTTTGCTGGTGGCCTTCTCATTTTAGACACTGTTTCTGGACTTAACATGGGATATTTAACAGACCAAGCCATTTTCATTCTCTTTGGCTTGTGTTGGTATCTCCAAGTGGTAACTATACATCCTGCTTCCCTGCTGGGTTCTGATCCAAACTGAGACATCGATCCTGGGTTCAGCTGAGAGGCAGTTTCCCTGAGGCAAAGCTGGAGACTGTAATGTGGCCTGCAGTCAGAGTGGCCCATGCCCCTGAGCTGATGTCCGTCGAGTCTGGGCAGACCAGCTGAGGGGCTGTGGGCCCACACAGACCTGGACAAGCATGTTCACTTTGGGAGGAGGCAGGCTGACCCTTCATAGATAATCTCTTTCAAACAGAGAGGCAGGGGAGGAAAGGGACGCAGCTCAGGCCAGGGGTGGTGAGTTAGGACGTTGTCCTGCGCAAGGGAAGTGGCTGTCCCTGGTGCCGTGGGGCAGTGTGCTTCCTGAAGGTTCCACGCCTCAGGGAAAGATGAAAGTGGGTGTCACAAAGGTGTTTTTTCTAATGATACCTTTTTTTTCAGATTGTAAGAGTATTTTATGCTTATCATAGAAAACTTGGACTATGTAGAAAACATAAAGATACAAATTACTCATAACCTTGAAGCCCAGAAGCAACTCCCCATATTTTGGTGTATTTCCTTCTGTGTTTGTTGTTGTTGTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAGGGGTGCGATCTCAAGTCACTGTAACCTCCACCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTTTTGAGTAGCTGAGATTACAGGCGTGCATTACCACACCTAGCTAATTTTTGTATTTTTAGCAGAGACAGGGTTTCATCAGGTTGGCCAGGCTGGTCACAAACTCCTGACCTCAGGGGATCCACCCTCCTTGGCCTCCCAAAGTGATGAGAGTACAGGCGTGAGCCACCATGCCCAGCTTGTATCATATTTTAAGAGTTACATTTATTATACAGAGTCTTCTCTTTGAAAATTAAACTGATGATTTTGAAAAACTAACAGTGGCATTGTTAGCCAGAATTTCTCACCAACCCAGCCTGCTGATTCCAGAGCAGTTGGAATGACCTGGAGGGGGCTCAGGCGGCCCACACGGCTCATTGTTGGGTGCCAGGGATAGCCCAGAGGCTGCTGGGGCAGAGCGTGCAAGGGAGGAGGCCGGTTGGCCCCGTGTTCCCCCAGCTGCACACACCTTCTGATGTGCAGTTGTGCTTTCTGATTTGAAAAGAAATACATGCTCATGTGGAAAATTTTGGAAATGTTCAAAAGGAGAAAAACATCCAGACCCCCGTGCCAGTCCTCCTGCCCTCTGCTTGGTTGTGCCAGTGTCCCAGGCCGTTGGGGGTAAAGGGAGGAAGGCAGCTGCTGACCAGCGGTAAAACCTGCTCTCCCTCTCCCCGCTGTCCAAGCCTTCCTTAGAAAGGGCTGGGCTGTGTGTGAGACAGAGGAAAGCTCTGTAGACACAGGGGTGGCCCTGCCAGTGCACCCAGGCTGGTGACTGCAGTGAGTCCACCCTGGGTTCAAGACAGCTCTGCCTCTTTCTGACTGTGTGACCTTGAGTGAGCCAGAACACAGGCCTGTGCCTCCGGGTCTGCACCTCTGAGAGAGGGGAGGAACAGGAAGAGGCTGCCTTCTTCCCGCCAGCATGTAGGGGGCACTTGGGGGCGTCTGGTGGGAGACCAGTCTGGCCTCCCAGCTGGAGAGTGGGCGTGGCGCGCAATGTCCTCTTGAGTCAGATGTCCATGCATCCTTCCCTGGTAACCAAGTCCTGACACCTTCTATGAGTCTCGCTCGAAAGCCTTCCAGGCAGAGTTGGCAGGGTCAGAGTGGCACCGAAAGCCTAGGCAGGGCACACAAGGCCTTTGACCACATCCTATCCCTCAGGCATCACGTCCGAGAACGAACGGGAGGTGAGGCAGCTCTCCTCCGAGACCGACCTGGAGAGGGCCGTGCGCAAGGCAGCCCTGGTCATGTACTGGAAGCTCAACCCCAAGAAGAAGAAGCAGGTGGCCGTGGCGGAGCTGCTGGAGAATGTCGGCCAGGTCAACGAGCACGGTGCGAGGATTCACCCTGGGCACCAGCCTTCCCTGGGCGCCAGCCTTCCCACAGGAGCCAGGACCTTCCCATAGGGGCTGGGACCTTCCCTCAGGGGCTGGGTCTTCCCACAGGAGCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGACCAGAACCTTCCTGTAGAGACCGTGCCCTAGTGGTGAGGTGTGTGGGTGGCATTTTGACAGCATCTGCCCTGGCTCAAGTGCTCACTCATTGAATAAACCAGAGGGTATTCTGCCCAGTGCTCTGTGACCACGTCTACCAATGGGACGGACTGTGTCCATCACCAAGTGGGAGCACGCTACGTGGTGCTGAGTCCACCCCAGCTACTGGAGGTACAGAGGTGTGGCCCCTGCTCTGCCTGCCCTGGGGGCCCTATGATCCCCAGAACGTAGGATGCCCCTGGAACTGGCGTGCCCTAGGAACAGTGCGCCAGTTTCTGGTGGGCTGCAGGGCACGAGGAGATAGTCAACTTGTCTGACTGTTAATCCACCCTGTCCCCTGCAGATGGAGGGGCGCAGCCAGGCCCCGTGCCCAAGTCCCTGCAGAAGCAGAGGCGCATGCTGGAGCGCCTGGTCAGCAGCGAGTGTGAGTGCAGCCCCTGCCCCGTCTCACCCATGCCTCCCAGCCTGCACCTGCAGGGCGACCTCTCCTTCCTGTGCGACTCCATCCTGGCCTGCCCTATCTCACCCGTGCCTCCCAGCCTGCGCCTGCAGGGCGACCTCTCCTTCCTGTGCGACCCCATCCTGGCCCTGCTAGGATCTCAGGCGGTCCGTTTGGGGCTCAGTGTTCTGGACGCTGGGAGTAGACCCTGCCCACCTGGAGCGCACGCACTGGAGGGAAGGCAGACCCAGGACAGAAACCATGATGTGCCAGTCCCTCTTGGACAAGGAAATACTGGGGGTGGGGACTGGCGGGGGGGTCCTGAGTGGGGAAGGATGAGGAGGGCATTAGGGGAAGGGGCTCCGGGCAGAGGGAACAGCATGAGCAAAGGCCCAGGAGACCCAGCAGGGTGTGGAAGGGGCTCTGCCCCAGCGTAGGCCCTTTGTAGGTAGGCAGGGAACAGAGTGGGCAGAGCCTAGGTTGGGGGATAGAGTCTCTGGGGCACACTGAGCTGGGGGTGCCTCTGGGATGTTTGTGGTCAAAGACTGAGAAGAGACGTCACATCCTCCACGTGCAGCTGGCCAGCCTCACTGTCTTCCATCCACGTGGGGTAGACTCTGCAGTCTGAGGCACTGGGAGCTCCTGTCCTGGAGAAGATAGACAGGCAGGAGGCTTGGGGGCTCAGTATCAATGGGGGGATGGGCCAAGACCCAGGTCTGCCACAGACTCTTCTTGTGACATGGGCAGGTCTCATTTTTCTTTCTGGGTGTCAGTTTCCCCTTCTGAACAGTGAGATGATCAGACAAGGGGACTGAAGGACCTCGCCCATCCTAGAAGCCTCTGTGGCATGTAGGGCAGAGTACAGGTGGGAGCACAGATCCCACCTTCCCACTGGGCCCGTGAGGAAACCGTCCATAGGGTGTGGTCAGAGCCCTCGCCTCTGCGTGGGCGGACATGGGTGCTTGCGCTGCTGTTTTCCTGCTCCATTTGGGGGAGACAAAGAAACACCTCACATGGAAGTGGGAAGAAATCTGTGACTCTAGGAAGCCCGAGGACCAGAGAGG | benign | 79,999 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 4, position 6300702, gene WFS1 (wolframin ER transmembrane glycoprotein). What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Type_2_diabetes_mellitus', 'WFS1-related_disorder', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | ACACACTCATAACACTTCCGTTTCCTCCATGAGCCTGCCCCTCTCCTCTCATCTGTGGAAGACTCAGTCTTCTGGTTGTTTCCAGGTGTCCTGGTCCTCCAGAGCTGATAGCCAGGCTGTTGGCAGGTGAGGGCCACATTCTGGTGTTGTCACCTAGTTGCCATTCACCTGGGATCCCTCCTTGGCCTTCTGGTGGGCCTGGTGGAGAGAACCTGCCCCAGGGGATTTGTGGGGTCTGGTGCTTCCCCGAGGCCCGGAGCTGATGGGGGGCTCCAGCCTGGATGTGTCATGTAGCCCCTCAGTGGGCCCTGGACATGCAGCCAGGCTTCCCTACCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCACGCCATGCTGTGTGAGCACTGGCACCATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGG | ACACACTCATAACACTTCCGTTTCCTCCATGAGCCTGCCCCTCTCCTCTCATCTGTGGAAGACTCAGTCTTCTGGTTGTTTCCAGGTGTCCTGGTCCTCCAGAGCTGATAGCCAGGCTGTTGGCAGGTGAGGGCCACATTCTGGTGTTGTCACCTAGTTGCCATTCACCTGGGATCCCTCCTTGGCCTTCTGGTGGGCCTGGTGGAGAGAACCTGCCCCAGGGGATTTGTGGGGTCTGGTGCTTCCCCGAGGCCCGGAGCTGATGGGGGGCTCCAGCCTGGATGTGTCATGTAGCCCCTCAGTGGGCCCTGGACATGCAGCCAGGCTTCCCTACCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCACGCCATGCTGTGTGAGCACTGGCACCATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGAC | pathogenic | 80,072 |
Clinical classification of chromosome 4, position 6300811, gene WFS1 (wolframin ER transmembrane glycoprotein): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Wolfram_syndrome_1'] | AGCCAGGCTGTTGGCAGGTGAGGGCCACATTCTGGTGTTGTCACCTAGTTGCCATTCACCTGGGATCCCTCCTTGGCCTTCTGGTGGGCCTGGTGGAGAGAACCTGCCCCAGGGGATTTGTGGGGTCTGGTGCTTCCCCGAGGCCCGGAGCTGATGGGGGGCTCCAGCCTGGATGTGTCATGTAGCCCCTCAGTGGGCCCTGGACATGCAGCCAGGCTTCCCTACCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCACGCCATGCTGTGTGAGCACTGGCACCATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAAC | AGCCAGGCTGTTGGCAGGTGAGGGCCACATTCTGGTGTTGTCACCTAGTTGCCATTCACCTGGGATCCCTCCTTGGCCTTCTGGTGGGCCTGGTGGAGAGAACCTGCCCCAGGGGATTTGTGGGGTCTGGTGCTTCCCCGAGGCCCGGAGCTGATGGGGGGCTCCAGCCTGGATGTGTCATGTAGCCCCTCAGTGGGCCCTGGACATGCAGCCAGGCTTCCCTACCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCACGCCATGCTGTGTGAGCACTGGCACCATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTG | pathogenic | 80,083 |
Evaluate the clinical significance of the mutation at chromosome 4, position 6301022 in gene WFS1 (wolframin ER transmembrane glycoprotein): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Wolfram_syndrome_1'] | CCAGGCTTCCCTACCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCACGCCATGCTGTGTGAGCACTGGCACCATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTC | CCAGGCTTCCCTACCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCACGCCATGCTGTGTGAGCACTGGCACCATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCNN | pathogenic | 80,101 |
A mutation at chromosome position 6301022 on chromosome 4 in gene WFS1 (wolframin ER transmembrane glycoprotein): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Optic_atrophy', 'Type_2_diabetes_mellitus', 'WFS1-Related_Spectrum_Disorders', 'WFS1-related_disorder', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | CCAGGCTTCCCTACCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCACGCCATGCTGTGTGAGCACTGGCACCATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTC | CCAGGCTTCCCTACCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCACGCCATGCTGTGTGAGCACTGGCACCATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCNNNN | pathogenic | 80,102 |
Variant at chromosome 4, position 6301025, gene WFS1 (wolframin ER transmembrane glycoprotein): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Type_2_diabetes_mellitus', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | GGCTTCCCTACCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCACGCCATGCTGTGTGAGCACTGGCACCATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTG | GGCTTCCCTACCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCACGCCATGCTGTGTGAGCACTGGCACCATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGNNNN | pathogenic | 80,104 |
Variant in gene WFS1 (wolframin ER transmembrane glycoprotein), located at chromosome 4 position 6301029: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Wolfram_syndrome'] | TCCCTACCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCACGCCATGCTGTGTGAGCACTGGCACCATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCA | TCCCTACCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCACGCCATGCTGTGTGAGCACTGGCACCATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCANNN | pathogenic | 80,106 |
The mutation in gene WFS1 (wolframin ER transmembrane glycoprotein) at chromosome 4, position 6301035—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Rare_genetic_deafness', 'Type_2_diabetes_mellitus', 'WFS1-Related_Spectrum_Disorders', 'WFS1-related_disorder', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | CCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCACGCCATGCTGTGTGAGCACTGGCACCATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGT | CCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCACGCCATGCTGTGTGAGCACTGGCACCATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTNNN | pathogenic | 80,108 |
Does the variant impacting WFS1 (wolframin ER transmembrane glycoprotein) on chromosome 4, position 6301156, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Diabetes_mellitus', 'Wolfram_syndrome_1'] | ATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGT | ATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTAGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTNNNNNNNNNNNNNNNN | pathogenic | 80,121 |
Gene mutation in WFS1 (wolframin ER transmembrane glycoprotein) at chromosome 4, position 6301235—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Rare_genetic_deafness', 'Wolfram_syndrome_1'] | TCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTC | TCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCT | pathogenic | 80,128 |
Considering the variant on chromosome 4, location 6301309, involving gene WFS1 (wolframin ER transmembrane glycoprotein), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Type_2_diabetes_mellitus', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | CAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAA | CAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAANNNNNNNNNNNNNNN | pathogenic | 80,140 |
Variant at chromosome 4, position 6301316, gene WFS1 (wolframin ER transmembrane glycoprotein): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | CCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAAT | CCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATNN | pathogenic | 80,141 |
Does the chromosome 4 mutation at position 6301335 within gene WFS1 (wolframin ER transmembrane glycoprotein) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Type_2_diabetes_mellitus', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | CCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAA | CCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAANNN | pathogenic | 80,143 |
Is the genetic change at chromosome 4, position 6301342, within gene WFS1 (wolframin ER transmembrane glycoprotein) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Type_2_diabetes_mellitus', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | GCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGAT | GCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATN | pathogenic | 80,144 |
Variant in WFS1 (wolframin ER transmembrane glycoprotein), chromosome 4, position 6301398—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Type_2_diabetes_mellitus', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | AGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGG | AGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGNNNNNNNNNNNNNN | pathogenic | 80,148 |
Does the variant on chromosome 4 at location 6301483 affecting gene WFS1 (wolframin ER transmembrane glycoprotein) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Type_2_diabetes_mellitus', 'WFS1-related_disorder', 'Wolfram-like_syndrome', 'Wolfram_syndrome', 'Wolfram_syndrome_1'] | CACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCA | CACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCANNNNNN | pathogenic | 80,164 |
Clinical classification of chromosome 4, position 6301493, gene WFS1 (wolframin ER transmembrane glycoprotein): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Type_2_diabetes_mellitus', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | GGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCA | GGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCANNNNNN | pathogenic | 80,166 |
Variant at chromosome position 6301742, chromosome 4, gene WFS1 (wolframin ER transmembrane glycoprotein): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Cataract_41', 'Wolfram_syndrome_1'] | TGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCT | TGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTNN | pathogenic | 80,194 |
Clinical impact (benign or pathogenic) of the variant at chromosome 4, location 6302001, gene WFS1 (wolframin ER transmembrane glycoprotein): what disease(s) if pathogenic? | pathogenic; ['Wolfram_syndrome_1'] | GGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTGGCTTGGCCACCTGGTGTTGCCATGCAGGATGTGGTTGCTCCATTTTCCTTGGACGACACTGGGTGGTGGCAGCTACACCCGACACTGTCCT | GGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTGGCTTGGCCACCTGGTGTTGCCATGCAGGATGTGGTTGCTCCATTTTCCTTGGACGACACTGGGTGGTGGCAGCTACACCCGACACTGTCCTNNNN | pathogenic | 80,223 |
The mutation impacting WFS1 (wolframin ER transmembrane glycoprotein) on chromosome 4 at position 6302018: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Wolfram_syndrome_1'] | TGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTGGCTTGGCCACCTGGTGTTGCCATGCAGGATGTGGTTGCTCCATTTTCCTTGGACGACACTGGGTGGTGGCAGCTACACCCGACACTGTCCTCTCATCCTGGTTTGTCC | TGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTGGCTTGGCCACCTGGTGTTGCCATGCAGGATGTGGTTGCTCCATTTTCCTTGGACGACACTGGGTGGTGGCAGCTACACCCGACACTGTCCTCTCATCCTGGTTTGTC | pathogenic | 80,224 |
For chromosome 4, position 6302109, gene WFS1 (wolframin ER transmembrane glycoprotein): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Type_2_diabetes_mellitus', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | AGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTGGCTTGGCCACCTGGTGTTGCCATGCAGGATGTGGTTGCTCCATTTTCCTTGGACGACACTGGGTGGTGGCAGCTACACCCGACACTGTCCTCTCATCCTGGTTTGTCCTGCCTGGAGGGGCTGCGTGAAACCACACGAGAGGCTCAGGTGGTGTCATCACTCCGAGCCACGGGTGGTGGAAGCTGCACCCCCACACTGT | AGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCTGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTGGCTTGGCCACCTGGTGTTGCCATGCAGGATGTGGTTGCTCCATTTTCCTTGGACGACACTGGGTGGTGGCAGCTACACCCGACACTGTCCTCTCATCCTGGTTTGTCCTGCCTGGAGGGGCTGCGTGAAACCACACGAGAGGCTCAGGTGGTGTCATCACTCCGAGCCACGGGTGGTGGAAGCTGCACCCCCACACTG | pathogenic | 80,231 |
Is the genetic variant on chromosome 4, position 6302180, gene WFS1 (wolframin ER transmembrane glycoprotein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTGGCTTGGCCACCTGGTGTTGCCATGCAGGATGTGGTTGCTCCATTTTCCTTGGACGACACTGGGTGGTGGCAGCTACACCCGACACTGTCCTCTCATCCTGGTTTGTCCTGCCTGGAGGGGCTGCGTGAAACCACACGAGAGGCTCAGGTGGTGTCATCACTCCGAGCCACGGGTGGTGGAAGCTGCACCCCCACACTGTCCTCTGCGTGAAACCACACGAGAGGCTCAGGAGGTGTCATCACTCCGAGCCACATGCTCGCCCCTGGGTTT | CTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTGGCTTGGCCACCTGGTGTTGCCATGCAGGATGTGGTTGCTCCATTTTCCTTGGACGACACTGGGTGGTGGCAGCTACACCCGACACTGTCCTCTCATCCTGGTTTGTCCTGCCTGGAGGGGCTGCGTGAAACCACACGAGAGGCTCAGGTGGTGTCATCACTCCGAGCCACGGGTGGTGGAAGCTGCACCCCCACACTGTCCTCTGCGTGAAACCACACGAGAGGCTCAGGAGGTGTCATCACTCCGAGCCACATGCTCGCCCCTGGG | benign | 80,242 |
Variant on chromosome 4, at position 6302247, affecting WFS1 (wolframin ER transmembrane glycoprotein): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Type_2_diabetes_mellitus', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | TCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTGGCTTGGCCACCTGGTGTTGCCATGCAGGATGTGGTTGCTCCATTTTCCTTGGACGACACTGGGTGGTGGCAGCTACACCCGACACTGTCCTCTCATCCTGGTTTGTCCTGCCTGGAGGGGCTGCGTGAAACCACACGAGAGGCTCAGGTGGTGTCATCACTCCGAGCCACGGGTGGTGGAAGCTGCACCCCCACACTGTCCTCTGCGTGAAACCACACGAGAGGCTCAGGAGGTGTCATCACTCCGAGCCACATGCTCGCCCCTGGGTTTCTTTCCCAGGCAATGAGATGAGGTTGGGGTTCAGCCTCATTTCCTCTCCCCATTCTGTGGATTTGTG | TCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTGGCTTGGCCACCTGGTGTTGCCATGCAGGATGTGGTTGCTCCATTTTCCTTGGACGACACTGGGTGGTGGCAGCTACACCCGACACTGTCCTCTCATCCTGGTTTGTCCTGCCTGGAGGGGCTGCGTGAAACCACACGAGAGGCTCAGGTGGTGTCATCACTCCGAGCCACGGGTGGTGGAAGCTGCACCCCCACACTGTCCTCTGCGTGAAACCACACGAGAGGCTCAGGAGGTGTCATCACTCCGAGCCACATGCTCGCCCCTGGGTTTCTTTCCCAGGCAATGAGATGAGGTTGGGGTTCAGCCTCATTTCCTCTCCCCATTCTGTGGATTTGTGNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 80,252 |
The mutation impacting WFS1 (wolframin ER transmembrane glycoprotein) on chromosome 4 at position 6302330: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Wolfram_syndrome_1'] | AGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTGGCTTGGCCACCTGGTGTTGCCATGCAGGATGTGGTTGCTCCATTTTCCTTGGACGACACTGGGTGGTGGCAGCTACACCCGACACTGTCCTCTCATCCTGGTTTGTCCTGCCTGGAGGGGCTGCGTGAAACCACACGAGAGGCTCAGGTGGTGTCATCACTCCGAGCCACGGGTGGTGGAAGCTGCACCCCCACACTGTCCTCTGCGTGAAACCACACGAGAGGCTCAGGAGGTGTCATCACTCCGAGCCACATGCTCGCCCCTGGGTTTCTTTCCCAGGCAATGAGATGAGGTTGGGGTTCAGCCTCATTTCCTCTCCCCATTCTGTGGATTTGTGAAGCCATGGAAGGCCCTCGCCCTGTGACTCTGCCCCCAGGATCCCCACTGACTGCAGAGGAGGGAAGTCGCCTGATGCTTTCC | AGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTGGCTTGGCCACCTGGTGTTGCCATGCAGGATGTGGTTGCTCCATTTTCCTTGGACGACACTGGGTGGTGGCAGCTACACCCGACACTGTCCTCTCATCCTGGTTTGTCCTGCCTGGAGGGGCTGCGTGAAACCACACGAGAGGCTCAGGTGGTGTCATCACTCCGAGCCACGGGTGGTGGAAGCTGCACCCCCACACTGTCCTCTGCGTGAAACCACACGAGAGGCTCAGGAGGTGTCATCACTCCGAGCCACATGCTCGCCCCTGGGTTTCTTTCCCAGGCAATGAGATGAGGTTGGGGTTCAGCCTCATTTCCTCTCCCCATTCTGTGGATTTGTGAAGCCATGGAAGGCCCTCGCCCTGTGACTCTGCCCCCAGGATCCCCACTGACTGCAGAGGAGGGAAGTCGCCTGATGCT | pathogenic | 80,259 |
A genetic variant on chromosome 4, position 6302435, affects the gene WFS1 (wolframin ER transmembrane glycoprotein). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Type_2_diabetes_mellitus', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | ATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTGGCTTGGCCACCTGGTGTTGCCATGCAGGATGTGGTTGCTCCATTTTCCTTGGACGACACTGGGTGGTGGCAGCTACACCCGACACTGTCCTCTCATCCTGGTTTGTCCTGCCTGGAGGGGCTGCGTGAAACCACACGAGAGGCTCAGGTGGTGTCATCACTCCGAGCCACGGGTGGTGGAAGCTGCACCCCCACACTGTCCTCTGCGTGAAACCACACGAGAGGCTCAGGAGGTGTCATCACTCCGAGCCACATGCTCGCCCCTGGGTTTCTTTCCCAGGCAATGAGATGAGGTTGGGGTTCAGCCTCATTTCCTCTCCCCATTCTGTGGATTTGTGAAGCCATGGAAGGCCCTCGCCCTGTGACTCTGCCCCCAGGATCCCCACTGACTGCAGAGGAGGGAAGTCGCCTGATGCTTTCCAAGTGAACAAAGATGACAACACAGCATCTCCCTCACAACCCCTGGATGAGGAAGATGCTCCAACATCCCCCATCTACAGAAGACGGCACCGAGGTTCAGAGTGGA | ATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTGGCTTGGCCACCTGGTGTTGCCATGCAGGATGTGGTTGCTCCATTTTCCTTGGACGACACTGGGTGGTGGCAGCTACACCCGACACTGTCCTCTCATCCTGGTTTGTCCTGCCTGGAGGGGCTGCGTGAAACCACACGAGAGGCTCAGGTGGTGTCATCACTCCGAGCCACGGGTGGTGGAAGCTGCACCCCCACACTGTCCTCTGCGTGAAACCACACGAGAGGCTCAGGAGGTGTCATCACTCCGAGCCACATGCTCGCCCCTGGGTTTCTTTCCCAGGCAATGAGATGAGGTTGGGGTTCAGCCTCATTTCCTCTCCCCATTCTGTGGATTTGTGAAGCCATGGAAGGCCCTCGCCCTGTGACTCTGCCCCCAGGATCCCCACTGACTGCAGAGGAGGGAAGTCGCCTGATGCTTTCCAAGTGAACAAAGATGACAACACAGCATCTCCCTCACAACCCCTGGATGAGGAAGATGCTCCAACATCCCCCATCTACAGAAGACGGCACCGAGGTTCAGAGTGGANNNN | pathogenic | 80,273 |
Gene WFS1 (wolframin ER transmembrane glycoprotein) variant at chromosome 4, position 6302436—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Type_2_diabetes_mellitus', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | TCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTGGCTTGGCCACCTGGTGTTGCCATGCAGGATGTGGTTGCTCCATTTTCCTTGGACGACACTGGGTGGTGGCAGCTACACCCGACACTGTCCTCTCATCCTGGTTTGTCCTGCCTGGAGGGGCTGCGTGAAACCACACGAGAGGCTCAGGTGGTGTCATCACTCCGAGCCACGGGTGGTGGAAGCTGCACCCCCACACTGTCCTCTGCGTGAAACCACACGAGAGGCTCAGGAGGTGTCATCACTCCGAGCCACATGCTCGCCCCTGGGTTTCTTTCCCAGGCAATGAGATGAGGTTGGGGTTCAGCCTCATTTCCTCTCCCCATTCTGTGGATTTGTGAAGCCATGGAAGGCCCTCGCCCTGTGACTCTGCCCCCAGGATCCCCACTGACTGCAGAGGAGGGAAGTCGCCTGATGCTTTCCAAGTGAACAAAGATGACAACACAGCATCTCCCTCACAACCCCTGGATGAGGAAGATGCTCCAACATCCCCCATCTACAGAAGACGGCACCGAGGTTCAGAGTGGAG | TCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTGGCTTGGCCACCTGGTGTTGCCATGCAGGATGTGGTTGCTCCATTTTCCTTGGACGACACTGGGTGGTGGCAGCTACACCCGACACTGTCCTCTCATCCTGGTTTGTCCTGCCTGGAGGGGCTGCGTGAAACCACACGAGAGGCTCAGGTGGTGTCATCACTCCGAGCCACGGGTGGTGGAAGCTGCACCCCCACACTGTCCTCTGCGTGAAACCACACGAGAGGCTCAGGAGGTGTCATCACTCCGAGCCACATGCTCGCCCCTGGGTTTCTTTCCCAGGCAATGAGATGAGGTTGGGGTTCAGCCTCATTTCCTCTCCCCATTCTGTGGATTTGTGAAGCCATGGAAGGCCCTCGCCCTGTGACTCTGCCCCCAGGATCCCCACTGACTGCAGAGGAGGGAAGTCGCCTGATGCTTTCCAAGTGAACAAAGATGACAACACAGCATCTCCCTCACAACCCCTGGATGAGGAAGATGCTCCAACATCCCCCATCTACAGAAGACGGCACCGAGGTTCAGAGTGGAGNN | pathogenic | 80,274 |
Is chromosome 4, position 6302440, gene WFS1 (wolframin ER transmembrane glycoprotein) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Type_2_diabetes_mellitus', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | GTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTGGCTTGGCCACCTGGTGTTGCCATGCAGGATGTGGTTGCTCCATTTTCCTTGGACGACACTGGGTGGTGGCAGCTACACCCGACACTGTCCTCTCATCCTGGTTTGTCCTGCCTGGAGGGGCTGCGTGAAACCACACGAGAGGCTCAGGTGGTGTCATCACTCCGAGCCACGGGTGGTGGAAGCTGCACCCCCACACTGTCCTCTGCGTGAAACCACACGAGAGGCTCAGGAGGTGTCATCACTCCGAGCCACATGCTCGCCCCTGGGTTTCTTTCCCAGGCAATGAGATGAGGTTGGGGTTCAGCCTCATTTCCTCTCCCCATTCTGTGGATTTGTGAAGCCATGGAAGGCCCTCGCCCTGTGACTCTGCCCCCAGGATCCCCACTGACTGCAGAGGAGGGAAGTCGCCTGATGCTTTCCAAGTGAACAAAGATGACAACACAGCATCTCCCTCACAACCCCTGGATGAGGAAGATGCTCCAACATCCCCCATCTACAGAAGACGGCACCGAGGTTCAGAGTGGAGGCCA | GTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTGGCTTGGCCACCTGGTGTTGCCATGCAGGATGTGGTTGCTCCATTTTCCTTGGACGACACTGGGTGGTGGCAGCTACACCCGACACTGTCCTCTCATCCTGGTTTGTCCTGCCTGGAGGGGCTGCGTGAAACCACACGAGAGGCTCAGGTGGTGTCATCACTCCGAGCCACGGGTGGTGGAAGCTGCACCCCCACACTGTCCTCTGCGTGAAACCACACGAGAGGCTCAGGAGGTGTCATCACTCCGAGCCACATGCTCGCCCCTGGGTTTCTTTCCCAGGCAATGAGATGAGGTTGGGGTTCAGCCTCATTTCCTCTCCCCATTCTGTGGATTTGTGAAGCCATGGAAGGCCCTCGCCCTGTGACTCTGCCCCCAGGATCCCCACTGACTGCAGAGGAGGGAAGTCGCCTGATGCTTTCCAAGTGAACAAAGATGACAACACAGCATCTCCCTCACAACCCCTGGATGAGGAAGATGCTCCAACATCCCCCATCTACAGAAGACGGCACCGAGGTTCAGAGTGGAGGCCANNNN | pathogenic | 80,275 |
Regarding the variant found on chromosome 4 at position 10081350 in gene WDR1 (WD repeat domain 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | ATGGGAATCAACGTTCAGGGTAAGAAAGGTACTAACAACAGTAAACAAAAACAGCGACAGCCCCTAGGCACGTGCCAGCGCTCTGCTGTGAGTGTTCCAGCCCCACAAGGCAGGGATCGGGTTCCCCGTTTCAGAGAAGAAAATGGGGTACGGTGCTTATGCTGCACGCCCAAGGCTCCAGTTCCCACAGGCTGAGCCGGGACTCGCCCAGAATCCAAGCCTCGGCACCCGCACTGGGCCTTTGCCTCTGGTACATGCAGCAGAGGCTCTGCAGCGGGGGCCTTCCTTCCATCTCCCTTCCTTGTCAATTCTTCCGGTTCTAACTTACTCAACTGCTCCCAGACAGTGGCCTTCATCTCTGAGTTTTGCCTTTATCCCAGTGTGCCCCTACCCAAGCCACCAGCTGTCATGAGGGAAGGCAGCCTCTGCCCCTACCGTCTGGGCTTCTGTTTCTGCGTGGATTGTGGGTGGATCGCGATGAATGGTAGCAGCACCCTGACTAAAACCTACTACTGAAGAGGCACCTCTGTCATCTGCCCGGCTCTGGAGGTGGCCTTACCTACTCACAGGTGAAGAATGAGGGCCTAAGCATTTGCCTGAAGCTTCGTCCGACATGAGACTTGAACCTGGTTGTTTCCTGATCTAAAATCCCAGGCCCCTCCTAGCACCCTCCTAACTCTTTGACTGGTGACAGGGAGCTCTGCAGAAAATTCTGACCCAGAGCAGGGGTTCCAGATGCCCTGGGAGGATCAGGTAACAGCAGATCACAGAGAAATGCCACATGAGGAGGTGCAGAGACCTGGAGCCTGTCCCCTGCACACCACAACCCTACCGGGGTCCTTTCTAACCTCCTGGGCAGCAGGCGCCAGCTGGGCCAGTCTGAACATCCTCTCAGCCTCAGGGGAAAGGGTGGCCTATGATGACCACAACTTTACAGATGAGGAAACCTGGGTCTGGAGACACAGGGCACGCTGCCCTAGGCCTCATCCCCTCACCCACAAAGCCCCATGTGCAGACCCCTTGGCTGGGAAGAGCCCTGCTGTGCAGAGATAGGCCACCTGCCAGCCTTCTAGAACTCCGCTTTGTAGCGTTTCCCCCAGGCCCCGAGGCGCTCCATGTGTGGATTCCCTTTGCACCTCCCCACCCCCACTGGCTGTCCAGGCTGTTTGCAATAATTACTTGGCAGGGATTTCTTATTATCTAGGACACAGAGAAATCCACTGTCCCTAACGCAATTAAGTTCACAAGGCAAAGGAGGGCCAGAGGGTGCTGAAAGCAGCTTTCTTTAGCAGGGCTCGCCACTCGTGCCAACAGGTGCCCCTTGACTTCCCCGGTCTACATGCCAGCAAGCCTAGGCCCGCCAACAGATAATATCTTCTGCAGGGCAGAATTCTGTATAAAGTGGGTCAGGCTTGGGTCTCAGGTGGCTTTGGTCCAGATATTCCAAAGGTGTGCAGGTGGCCCCACTGTCTGGGGTTAGAAGCCAGGCCGGGAAGTCAGGTGCCACCCTTCTGCATGTGGGAAAGTACCAAGCTGCTCTAGGCCTCAGCCTCCTCATCTGTAAGAGGAACCAAGATGGTGTAAGGAGACTTACATGTACTTCCTCATAATCACCTGGATCTGTGAGTGCTGGGGATGGGAAACTAAGGCTCAGAGAGGGTGAGGTAAATGCCGGAGGTCACACAGCTACAATGCAGCAGGGCTGGGATGTGAACAGGAGCAAAGGCAGGCCCACCCCACAGGGTATCTCATAGACTTTACAGGCTGACAGGCAGGCAGCGTGGTCTGAGGCTTAGAGACAAATCCCAGCTCTGCCCTCCGACCAGCTGCGGCCTTGGACAACCAATTTATCCATTCCGTGCCTCCATTTCTTCATCTGTACAACTGATGTGATGGTGGTGAGGATTAAATATGTGAGATCCCTTAGTGCAGTGCAAATGAGCACTCAACCAAAACACTGGCTAGAGCAACTGTCAAACGGGACATGAGTCAAATTCAGCAAGCAGGCACCACACAGCTGCAGGCTCCCACCCAAACACTAAGCCAGGTCCCTACCTGTCCAATGCACACGACCACGGCGTATCCCCCGGGGCCGACGGCTACGCACTTTGGCTGAACGTCCAGTTTCACAACTCCTTGTCCGCTGTTAGAGAGAAAGGAAGCACATTACTTCGACAATGCAGCAGCTCAGGGTAGGTATGCATACATATTTACTGTTAAACCACAGTTTTGCTCCTTAGAAGGCAATTCTATTGCCACCTATACTGGAGAGACTTGCTAAAATATGGGATGGTAGCGAAAAAACGATCCATGACTCTGGTGCAAAGAGATTATAAGTCATAATGGGGGCCCGGGGAGGGGTGGGGGGGGGGGAAGGAGGGGCGGGAGGCGGTGAAAGGCGTTGATTATGCTCCTATTTATCTGTGGTAAGCCCTCATTACACCCAGATGTGGCTTTTGTCCCCCTGTCTGTTGGCTAAAGACTGGAGTTTACTGAGCACAGACAGAATTGAGCTCTGCTCCCCAAAATGGATGGGTAACTTTTAAGAATCCGTTACCTTTAATGGGTGAAAATCATGTTATTTTTAGCCTTGGCCAATGCTATCAAAACTTGTTCTAGAAAGACTCATACACACAAACTTCTTGAAAACTGAGATAATCAAGGAAATTTCTGTGTCACTCGGCCAAGTGTGGCATCCCCAAAGGCTCTGCAGCAAGGTCACCAGGCCAAGGCTGGCTCTGTAAGGGCCTTGCCTTGGGTTATCTGGCCCAGGGAAGACCCTTTTATGGGACGTGTTAAGAGTGGGGTCACCACAGGGCAGTAGAAAGAGGACCAGGGCCCAGATGCCTGGGCTCTGGGGCCGCTTCTGCCACTCATCGGGAGGCCCAATTTACCTACAGATGCCCAGTCTGCCAGGCAGGCAGGGCCTGTGTTACCTACAAGGACGGCACACCTGCTAGGAGTTGCGTGCTGCACCCTGTGCCAGGCTCCCATCAACAGGCCCCAGGAGTCCCCATCTCCCAGGCAACACGACTTAGGCAGGACTACCGGGTGACAAAGGGGTCTACACAAGAAATGTAGGGCCAGAGGAGGGGTCAGACCTGGGCATGGGGACACTGGATGTGCAGTGGCCTCGTCAGGTCCTGGAACATTTCTCTTTCAAGTCCCTCCAACTGCATTTAGGACTTCAGATCACTTGCAAACTGCTACTCTCCTAGCTCCACTGACTGCCAATCAAAGGCCCAAGACCAAAAACAAACAAGACATTGTCTTTTAACCAGATCACTGTGTGCCCATCTCACCCTTGAGCAGAAGGGGAATGCTGTCTTGTACTCAGCACCTGCCCTGTGCCAGGCTCACCTAATCCACAACAGCCTGAGGCAGGCTCCACTGTACCCGCCTTTACTGATGAGGAAAGGGACACAGGGAGAGACCGCAGCAGGTTCCTGGAGAACAGGGCTGTGATCTGCTGCCCCTGCTTCCAGGGCAGAGTCCACACCTGGTCGTTGTCTGTGGGCAAGAGCATTACCCAGACCACCTGGATCTGTAACACAGTGCTGGGCTCAGGGCCCAACAACAGGAGAACAATGCTGGGGACGGGGTGGGAGAGATGAAAGGAGCAAGTGAGGCGTCCTCCAGAACAGTAACTGCTGGAGGGCACAAGCCCTCCGAGGGGAGCTGAGGCTCATCCGGAACCCCCGCAGACCCGAGTGCTCTCACCTGTAGTCCCGCAGCATGAGGCTGGTGTACCGCACGGTGTCGTCCATGCTGCAGCTGATGAGCTGCCCCGACTCATCCACGGTCATCCTGGACACCTGGTTCGTGTGGCCTTTCCCAGCGAAGGAGTCGTTCTCCCCCGTCTCTGAATCCCAGTAATGTAGGGTGGGGTTAAGGAAAAGCCCGGCTCCCAGGACTGCTGGGTGTTCTCAGGTGTGGCTTCAGTCCTAAGATTCTCCATTTACATCAAGAATGAGAATCTCGCCGCAAACGGACATAACCATTCCCCCTGGGAAGCCTGCAGTGTCCACTGTTGACACGTTCTTAGGAAGGGGTATCTGAAGTGTGGGTGCACCACACAGGGATTGGGATGAGGCAG | ATGGGAATCAACGTTCAGGGTAAGAAAGGTACTAACAACAGTAAACAAAAACAGCGACAGCCCCTAGGCACGTGCCAGCGCTCTGCTGTGAGTGTTCCAGCCCCACAAGGCAGGGATCGGGTTCCCCGTTTCAGAGAAGAAAATGGGGTACGGTGCTTATGCTGCACGCCCAAGGCTCCAGTTCCCACAGGCTGAGCCGGGACTCGCCCAGAATCCAAGCCTCGGCACCCGCACTGGGCCTTTGCCTCTGGTACATGCAGCAGAGGCTCTGCAGCGGGGGCCTTCCTTCCATCTCCCTTCCTTGTCAATTCTTCCGGTTCTAACTTACTCAACTGCTCCCAGACAGTGGCCTTCATCTCTGAGTTTTGCCTTTATCCCAGTGTGCCCCTACCCAAGCCACCAGCTGTCATGAGGGAAGGCAGCCTCTGCCCCTACCGTCTGGGCTTCTGTTTCTGCGTGGATTGTGGGTGGATCGCGATGAATGGTAGCAGCACCCTGACTAAAACCTACTACTGAAGAGGCACCTCTGTCATCTGCCCGGCTCTGGAGGTGGCCTTACCTACTCACAGGTGAAGAATGAGGGCCTAAGCATTTGCCTGAAGCTTCGTCCGACATGAGACTTGAACCTGGTTGTTTCCTGATCTAAAATCCCAGGCCCCTCCTAGCACCCTCCTAACTCTTTGACTGGTGACAGGGAGCTCTGCAGAAAATTCTGACCCAGAGCAGGGGTTCCAGATGCCCTGGGAGGATCAGGTAACAGCAGATCACAGAGAAATGCCACATGAGGAGGTGCAGAGACCTGGAGCCTGTCCCCTGCACACCACAACCCTACCGGGGTCCTTTCTAACCTCCTGGGCAGCAGGCGCCAGCTGGGCCAGTCTGAACATCCTCTCAGCCTCAGGGGAAAGGGTGGCCTATGATGACCACAACTTTACAGATGAGGAAACCTGGGTCTGGAGACACAGGGCACGCTGCCCTAGGCCTCATCCCCTCACCCACAAAGCCCCATGTGCAGACCCCTTGGCTGGGAAGAGCCCTGCTGTGCAGAGATAGGCCACCTGCCAGCCTTCTAGAACTCCGCTTTGTAGCGTTTCCCCCAGGCCCCGAGGCGCTCCATGTGTGGATTCCCTTTGCACCTCCCCACCCCCACTGGCTGTCCAGGCTGTTTGCAATAATTACTTGGCAGGGATTTCTTATTATCTAGGACACAGAGAAATCCACTGTCCCTAACGCAATTAAGTTCACAAGGCAAAGGAGGGCCAGAGGGTGCTGAAAGCAGCTTTCTTTAGCAGGGCTCGCCACTCGTGCCAACAGGTGCCCCTTGACTTCCCCGGTCTACATGCCAGCAAGCCTAGGCCCGCCAACAGATAATATCTTCTGCAGGGCAGAATTCTGTATAAAGTGGGTCAGGCTTGGGTCTCAGGTGGCTTTGGTCCAGATATTCCAAAGGTGTGCAGGTGGCCCCACTGTCTGGGGTTAGAAGCCAGGCCGGGAAGTCAGGTGCCACCCTTCTGCATGTGGGAAAGTACCAAGCTGCTCTAGGCCTCAGCCTCCTCATCTGTAAGAGGAACCAAGATGGTGTAAGGAGACTTACATGTACTTCCTCATAATCACCTGGATCTGTGAGTGCTGGGGATGGGAAACTAAGGCTCAGAGAGGGTGAGGTAAATGCCGGAGGTCACACAGCTACAATGCAGCAGGGCTGGGATGTGAACAGGAGCAAAGGCAGGCCCACCCCACAGGGTATCTCATAGACTTTACAGGCTGACAGGCAGGCAGCGTGGTCTGAGGCTTAGAGACAAATCCCAGCTCTGCCCTCCGACCAGCTGCGGCCTTGGACAACCAATTTATCCATTCCGTGCCTCCATTTCTTCATCTGTACAACTGATGTGATGGTGGTGAGGATTAAATATGTGAGATCCCTTAGTGCAGTGCAAATGAGCACTCAACCAAAACACTGGCTAGAGCAACTGTCAAACGGGACATGAGTCAAATTCAGCAAGCAGGCACCACACAGCTGCAGGCTCCCACCCAAACACTAAGCCAGGTCCCCCTACCTGTCCAATGCACACGACCACGGCGTATCCCCCGGGGCCGACGGCTACGCACTTTGGCTGAACGTCCAGTTTCACAACTCCTTGTCCGCTGTTAGAGAGAAAGGAAGCACATTACTTCGACAATGCAGCAGCTCAGGGTAGGTATGCATACATATTTACTGTTAAACCACAGTTTTGCTCCTTAGAAGGCAATTCTATTGCCACCTATACTGGAGAGACTTGCTAAAATATGGGATGGTAGCGAAAAAACGATCCATGACTCTGGTGCAAAGAGATTATAAGTCATAATGGGGGCCCGGGGAGGGGTGGGGGGGGGGGAAGGAGGGGCGGGAGGCGGTGAAAGGCGTTGATTATGCTCCTATTTATCTGTGGTAAGCCCTCATTACACCCAGATGTGGCTTTTGTCCCCCTGTCTGTTGGCTAAAGACTGGAGTTTACTGAGCACAGACAGAATTGAGCTCTGCTCCCCAAAATGGATGGGTAACTTTTAAGAATCCGTTACCTTTAATGGGTGAAAATCATGTTATTTTTAGCCTTGGCCAATGCTATCAAAACTTGTTCTAGAAAGACTCATACACACAAACTTCTTGAAAACTGAGATAATCAAGGAAATTTCTGTGTCACTCGGCCAAGTGTGGCATCCCCAAAGGCTCTGCAGCAAGGTCACCAGGCCAAGGCTGGCTCTGTAAGGGCCTTGCCTTGGGTTATCTGGCCCAGGGAAGACCCTTTTATGGGACGTGTTAAGAGTGGGGTCACCACAGGGCAGTAGAAAGAGGACCAGGGCCCAGATGCCTGGGCTCTGGGGCCGCTTCTGCCACTCATCGGGAGGCCCAATTTACCTACAGATGCCCAGTCTGCCAGGCAGGCAGGGCCTGTGTTACCTACAAGGACGGCACACCTGCTAGGAGTTGCGTGCTGCACCCTGTGCCAGGCTCCCATCAACAGGCCCCAGGAGTCCCCATCTCCCAGGCAACACGACTTAGGCAGGACTACCGGGTGACAAAGGGGTCTACACAAGAAATGTAGGGCCAGAGGAGGGGTCAGACCTGGGCATGGGGACACTGGATGTGCAGTGGCCTCGTCAGGTCCTGGAACATTTCTCTTTCAAGTCCCTCCAACTGCATTTAGGACTTCAGATCACTTGCAAACTGCTACTCTCCTAGCTCCACTGACTGCCAATCAAAGGCCCAAGACCAAAAACAAACAAGACATTGTCTTTTAACCAGATCACTGTGTGCCCATCTCACCCTTGAGCAGAAGGGGAATGCTGTCTTGTACTCAGCACCTGCCCTGTGCCAGGCTCACCTAATCCACAACAGCCTGAGGCAGGCTCCACTGTACCCGCCTTTACTGATGAGGAAAGGGACACAGGGAGAGACCGCAGCAGGTTCCTGGAGAACAGGGCTGTGATCTGCTGCCCCTGCTTCCAGGGCAGAGTCCACACCTGGTCGTTGTCTGTGGGCAAGAGCATTACCCAGACCACCTGGATCTGTAACACAGTGCTGGGCTCAGGGCCCAACAACAGGAGAACAATGCTGGGGACGGGGTGGGAGAGATGAAAGGAGCAAGTGAGGCGTCCTCCAGAACAGTAACTGCTGGAGGGCACAAGCCCTCCGAGGGGAGCTGAGGCTCATCCGGAACCCCCGCAGACCCGAGTGCTCTCACCTGTAGTCCCGCAGCATGAGGCTGGTGTACCGCACGGTGTCGTCCATGCTGCAGCTGATGAGCTGCCCCGACTCATCCACGGTCATCCTGGACACCTGGTTCGTGTGGCCTTTCCCAGCGAAGGAGTCGTTCTCCCCCGTCTCTGAATCCCAGTAATGTAGGGTGGGGTTAAGGAAAAGCCCGGCTCCCAGGACTGCTGGGTGTTCTCAGGTGTGGCTTCAGTCCTAAGATTCTCCATTTACATCAAGAATGAGAATCTCGCCGCAAACGGACATAACCATTCCCCCTGGGAAGCCTGCAGTGTCCACTGTTGACACGTTCTTAGGAAGGGGTATCTGAAGTGTGGGTGCACCACACAGGGATTGGGATGAGGC | benign | 80,426 |
A genetic alteration at chromosome 4, position 15480777, in gene CC2D2A (coiled-coil and C2 domain containing 2A)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['COACH_syndrome_2', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | ATTGAAAATGATGAGGATGCAGACATGGGAAGACAGAATAAGAACTCAAAGGTTCGAAGACAGCCAAGAAAGAAACAGGTAAGAAGTGACAAGAAACTGTGTCTGCGTATTGTCATTGATCAACAACCCGCCTGCATCCCCAGGGCCATACAGAATCCACAAGGGCAGCCTTCCTTCTTTTGGTACCAACTTTTGGCCTGCTCTGGGGGGCTGTGAGGCGGGGATGCAGATGGGTGGTCCAGGGTGCAGGAGCCTGATTCAGAGACTTATAGATGAGCCTCACAATAAGGCGGGGGTCCATACTTAGAGCATTTTTACTCTAAGTTTTCTCCCATCTCCTGAGAGAGGACTCTAGAAAAGATGGAAGGAGCCTGTTTTAGTGCTTCATTGAAGGCCATGGACTATGATGGGCAGTAGATGGCAGTACACGATTACAAATCTTGGGAAACTCCCTCTTTTTCCAACTCCAAGCCCAAATTCTGTCTTTGAGGCAGAAGCCAACTCCTTTCTCCCGAGCCTGCTGGCAGATCCTCCCCCACCTCTCCGCAGGAGTTCCCCTCCTAGGCTGGGAGCATCCCGTGCAGGGTAAATCTTTTCAAGGTAAGTCCTTGGTAAGAAGTTGTCCTCTGAGAAGGGAGGCAGGGAAGCAGCTATTGTGGATGGGAGCTCTGCTTGGAACAATCAAGATGCCAGCAGGGGAGGGAGGGGAGAGAAGCGCCATTTTGAGCCAGCAGTCACGTGAAGGGGCTGCAGAGAGGGGTGGCCAGGAGAGATGAAGAGGTCATAGGGAGACAGAAGAGACCTCCCTCCTAGCTCCCCCCTTGCTCAGCACACTCCTCGGGGCAATCTGGGCAGAGGAGTCACTTTCAGCCTTTCAAGGGAGGGTCCAGGTGGTTGGGGAGGTACTGCCTGGCCACGTGGGCTAGCTCTCTGGCCACTCCTGGGGACTGAGGAGACCCACAGCCAGACACAGCTCCGAAGCTTTAACCCCTTCCTGTGGGGTCAGTCTGCAGCCGTGCAGCCCAAGGCCAGGGGCTGTGGAGGCAGTAGATGAAAAGGGTTCAAGCCTTTAGCTCCACAGTCACAGGCACAGTGAGCAAGTGGGTGACTAGTGCCAAGGCTGCCACGGAGCTTAGACTGAAGAGGAGAAAGGGGCAAGGATGGAGAAGGGAATATAACAGCTCTCAAATGCTGAGCAATTTATGGGCCAGGCTTGGAACTTTATAGGTTGGGAGCATTGCAAGAAACGTAGTTGCACTCCAGAATCAGAATCACATGGGGACTTTTTGTTTAAATAAGTTCCATCCCGGGCCATCTATTTACGTCAGAATCTCTGTGCTTTCTACAGTGACTCAAACATTGTAGCATCTCAAAAAATGGGCTCTTTTTATTATTTTTCTTTTACAGATAAGAAAGCAGTGTACAAGGAAGTTAACTAACTTGCCCAAAGTCCCACAGTCAGTCTGAGTTTGGAGGCAAGCTTTAGTCTATCTGTCCTCAAAGGTGTTATTGCAAATTCTGCTTCCTTGTTTTCCTTCACTGAGAGTGTGGGGAAGGAACCAGAGGCTATTCTTGGGGGGTGTCCAAAGGGTGGACTAAATATTTGCCCCTGAATTACCCAGTAACACTTTAGCTGCTGTTTGCAAACTATTTGAAGTTGGGAACAAACTGATTTTCCTGTTTCTCTTTCCTCCAAATTCCTGCAGAGCTCTACATATTTTACCTAGAAAAAGTGAAAATAATAACGTTATTTGGGGACGCCTTGATAATTTCACAAAAGCATTTCTAGAGAAATTCTGGGTTGGCACCTCTTCCCTGGTGGGTACTCACAGTGAGTCAGGTGACAGAGACTGTGGTTATCCAGATGTGAATAGTACTAAGGCCTGTCCCCTCACTGGTGACCCATCTTCCCAAGAGAGGAACAGACTCAAATAAAGTCCTGGGAGTCTCTGAACCTCTGACCTTCTTCCTCCAGCCACCAACTGCTGTCCCCAAGGAAATGGTGTCCGAAAAATCCCACCTTGGCAACCCCCAGGAGCCTGTGCAGGAGGAGCCCAAGACCCGCCTCCTGAGTATGACAGTCCGGAGAGGCCCACGGAGTAAGTGCCCCTCTTCCATTCAGCTACTGCTTGTTAACTGCCTACTGTGAGCTCAGCACAGAGCAGTATAGGGATTTTTTATGGGTGTTATTTTTCATGCATTGCCACTGCTGCTCCACCCACTTTACCCCAACTTGGTGAGTGACTCTAGGTTAATCCCTGCCAAGGAGACAGAACACATAGCTTCAGGATGTGTTTCTATAACCACATAATATTATTTGGATGTTTGTCCCCTCCAAATCTGAAATGTGACCTTCAATGTTAGAGGTGGAGCCTAGTGGGAGGTGTCTGGGTCATGAGGGCACAACTCATGAATTGGTTGGTGTTGTCCTCTAGTAATGAGTGAGTTCTTGCTCTGTTCACTCACAGGAGAGCTGGTTGTTAAAAAGAGCCTGGGCAGGCCAGGCACGGTGACTCACGTCTGTAATCCCAGCACTTTGGAAGGCCGAGGCGGGTAAATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGGAGCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTCCATCTCAGAAAACAAACAAACAAAAAAGAGCCTGGAACCTCCTCCCCTCTCTCTTGCTCCCTCTCTCACCATGCGACACACCTGTTTCCCCTTCCCCTTCTGACATAAGTGAAAGCTTCCTAAGGCCTCACCAGAGGCAGATGCTGGCACCATGCTTATTGCACAGTCTGCAGAACAGTGAGCCAAAATAAACCTCTTTTCTTTATAAATTACCCAGTCTCAGATATTCCTTTATAGCAATGCAAAATGGACTAACAATACATAAGTTAGGGAGTGTTAATTAGAATGGAAATTAAATATGCAGAAACTCAAAGGAAGATGAAATTGTTAGGGAAGACATATGTGTTAACCTAGTGAGGCTTGAATCAGATGTTTGGAAGAAATGAGGGAGGTTTCTGAGGCTCCTGGTGACCTTGCCATTGAGGACACATATACTTCTCCCCCTACACACGCCTTTTCTTCTTCCCCAGTACAATGAACATTAGGAATTACCTGCTCATTGTAGGGAAAATGACCACCCTTCAGGCATTGCTTTTCATGAAAAGTGGATTAGACAAGAGGAGAAGTGGTTACACTTTTTAATTGTTACATAATTGTTAGACTGTTTTCCCTATGGCAAAGTTGGGAAATAAGTAACTGTTGGAAACTAGAGGCCTTTGGAAGCAAGTAGACTCTTAGATTGGAAAAATGTGGTTCTAATCTAAAAGCAATGATACAATGAGAGCTGTTATGAATTAATAAAAACAGAACCAAAATTTATCTCATATGGCTGTTTCTTTTTCTAAATGCTCAAAATTATTTATTACTACCAAAGATTACAACTTGTCATTTCAGGCTGCCATAACAAAATACTATAGACTGGGGGGCTTAAACACCCAACATTTATTTTCTCATGGCTCTGAAGGCTGGACATCTGAGATCATGGTGCCAGCATGGCCGGTTTCCAGTGAGGCCCTTCTTCCTGGCTAGTTGGTGGCCACCATCTTGCTGTGTGCTCACATGACCTCTTCTCTGTGCCTGCACTGGGGGAGGGAGAGGCTCTACTGTCTCCTCTTATAAGGACACTAATCCTAATCCTATCAGGGCCCCTCCCTTATGATCGCATTTGACCTTAATTACCTCCTACAGGTTCTATCTCTAAATGCAGTCAGATTGGGGGAGAAGGCTTCAACATACAGATTTTCAGAGGGGGGACACAATTCAGTCCTTAGCACAACTACTGGATATTTAATTATTTATTTTAAAATCAAGGGAAAGACTGCCAGGAGAGGTGGCCACCAGTCAAGGCTCTGTGACATAAAAAGTGGATTATTTTCTAAC | ATTGAAAATGATGAGGATGCAGACATGGGAAGACAGAATAAGAACTCAAAGGTTCGAAGACAGCCAAGAAAGAAACAGGTAAGAAGTGACAAGAAACTGTGTCTGCGTATTGTCATTGATCAACAACCCGCCTGCATCCCCAGGGCCATACAGAATCCACAAGGGCAGCCTTCCTTCTTTTGGTACCAACTTTTGGCCTGCTCTGGGGGGCTGTGAGGCGGGGATGCAGATGGGTGGTCCAGGGTGCAGGAGCCTGATTCAGAGACTTATAGATGAGCCTCACAATAAGGCGGGGGTCCATACTTAGAGCATTTTTACTCTAAGTTTTCTCCCATCTCCTGAGAGAGGACTCTAGAAAAGATGGAAGGAGCCTGTTTTAGTGCTTCATTGAAGGCCATGGACTATGATGGGCAGTAGATGGCAGTACACGATTACAAATCTTGGGAAACTCCCTCTTTTTCCAACTCCAAGCCCAAATTCTGTCTTTGAGGCAGAAGCCAACTCCTTTCTCCCGAGCCTGCTGGCAGATCCTCCCCCACCTCTCCGCAGGAGTTCCCCTCCTAGGCTGGGAGCATCCCGTGCAGGGTAAATCTTTTCAAGGTAAGTCCTTGGTAAGAAGTTGTCCTCTGAGAAGGGAGGCAGGGAAGCAGCTATTGTGGATGGGAGCTCTGCTTGGAACAATCAAGATGCCAGCAGGGGAGGGAGGGGAGAGAAGCGCCATTTTGAGCCAGCAGTCACGTGAAGGGGCTGCAGAGAGGGGTGGCCAGGAGAGATGAAGAGGTCATAGGGAGACAGAAGAGACCTCCCTCCTAGCTCCCCCCTTGCTCAGCACACTCCTCGGGGCAATCTGGGCAGAGGAGTCACTTTCAGCCTTTCAAGGGAGGGTCCAGGTGGTTGGGGAGGTACTGCCTGGCCACGTGGGCTAGCTCTCTGGCCACTCCTGGGGACTGAGGAGACCCACAGCCAGACACAGCTCCGAAGCTTTAACCCCTTCCTGTGGGGTCAGTCTGCAGCCGTGCAGCCCAAGGCCAGGGGCTGTGGAGGCAGTAGATGAAAAGGGTTCAAGCCTTTAGCTCCACAGTCACAGGCACAGTGAGCAAGTGGGTGACTAGTGCCAAGGCTGCCACGGAGCTTAGACTGAAGAGGAGAAAGGGGCAAGGATGGAGAAGGGAATATAACAGCTCTCAAATGCTGAGCAATTTATGGGCCAGGCTTGGAACTTTATAGGTTGGGAGCATTGCAAGAAACGTAGTTGCACTCCAGAATCAGAATCACATGGGGACTTTTTGTTTAAATAAGTTCCATCCCGGGCCATCTATTTACGTCAGAATCTCTGTGCTTTCTACAGTGACTCAAACATTGTAGCATCTCAAAAAATGGGCTCTTTTTATTATTTTTCTTTTACAGATAAGAAAGCAGTGTACAAGGAAGTTAACTAACTTGCCCAAAGTCCCACAGTCAGTCTGAGTTTGGAGGCAAGCTTTAGTCTATCTGTCCTCAAAGGTGTTATTGCAAATTCTGCTTCCTTGTTTTCCTTCACTGAGAGTGTGGGGAAGGAACCAGAGGCTATTCTTGGGGGGTGTCCAAAGGGTGGACTAAATATTTGCCCCTGAATTACCCAGTAACACTTTAGCTGCTGTTTGCAAACTATTTGAAGTTGGGAACAAACTGATTTTCCTGTTTCTCTTTCCTCCAAATTCCTGCAGAGCTCTACATATTTTACCTAGAAAAAGTGAAAATAATAACGTTATTTGGGGACGCCTTGATAATTTCACAAAAGCATTTCTAGAGAAATTCTGGGTTGGCACCTCTTCCCTGGTGGGTACTCACAGTGAGTCAGGTGACAGAGACTGTGGTTATCCAGATGTGAATAGTACTAAGGCCTGTCCCCTCACTGGTGACCCATCTTCCCAAGAGAGGAACAGACTCAAATAAAGTCCTGGGAGTCTCTGAACCTCTGACCTTCTTCCTCCAGCCACCAACTGCTGTCCCCAAGGAAATGGTGTCCGAAAAATCCCACCTTGGCAACCCCCAGGAGCCTGTGCAGGAGAGCCCAAGACCCGCCTCCTGAGTATGACAGTCCGGAGAGGCCCACGGAGTAAGTGCCCCTCTTCCATTCAGCTACTGCTTGTTAACTGCCTACTGTGAGCTCAGCACAGAGCAGTATAGGGATTTTTTATGGGTGTTATTTTTCATGCATTGCCACTGCTGCTCCACCCACTTTACCCCAACTTGGTGAGTGACTCTAGGTTAATCCCTGCCAAGGAGACAGAACACATAGCTTCAGGATGTGTTTCTATAACCACATAATATTATTTGGATGTTTGTCCCCTCCAAATCTGAAATGTGACCTTCAATGTTAGAGGTGGAGCCTAGTGGGAGGTGTCTGGGTCATGAGGGCACAACTCATGAATTGGTTGGTGTTGTCCTCTAGTAATGAGTGAGTTCTTGCTCTGTTCACTCACAGGAGAGCTGGTTGTTAAAAAGAGCCTGGGCAGGCCAGGCACGGTGACTCACGTCTGTAATCCCAGCACTTTGGAAGGCCGAGGCGGGTAAATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGGAGCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTCCATCTCAGAAAACAAACAAACAAAAAAGAGCCTGGAACCTCCTCCCCTCTCTCTTGCTCCCTCTCTCACCATGCGACACACCTGTTTCCCCTTCCCCTTCTGACATAAGTGAAAGCTTCCTAAGGCCTCACCAGAGGCAGATGCTGGCACCATGCTTATTGCACAGTCTGCAGAACAGTGAGCCAAAATAAACCTCTTTTCTTTATAAATTACCCAGTCTCAGATATTCCTTTATAGCAATGCAAAATGGACTAACAATACATAAGTTAGGGAGTGTTAATTAGAATGGAAATTAAATATGCAGAAACTCAAAGGAAGATGAAATTGTTAGGGAAGACATATGTGTTAACCTAGTGAGGCTTGAATCAGATGTTTGGAAGAAATGAGGGAGGTTTCTGAGGCTCCTGGTGACCTTGCCATTGAGGACACATATACTTCTCCCCCTACACACGCCTTTTCTTCTTCCCCAGTACAATGAACATTAGGAATTACCTGCTCATTGTAGGGAAAATGACCACCCTTCAGGCATTGCTTTTCATGAAAAGTGGATTAGACAAGAGGAGAAGTGGTTACACTTTTTAATTGTTACATAATTGTTAGACTGTTTTCCCTATGGCAAAGTTGGGAAATAAGTAACTGTTGGAAACTAGAGGCCTTTGGAAGCAAGTAGACTCTTAGATTGGAAAAATGTGGTTCTAATCTAAAAGCAATGATACAATGAGAGCTGTTATGAATTAATAAAAACAGAACCAAAATTTATCTCATATGGCTGTTTCTTTTTCTAAATGCTCAAAATTATTTATTACTACCAAAGATTACAACTTGTCATTTCAGGCTGCCATAACAAAATACTATAGACTGGGGGGCTTAAACACCCAACATTTATTTTCTCATGGCTCTGAAGGCTGGACATCTGAGATCATGGTGCCAGCATGGCCGGTTTCCAGTGAGGCCCTTCTTCCTGGCTAGTTGGTGGCCACCATCTTGCTGTGTGCTCACATGACCTCTTCTCTGTGCCTGCACTGGGGGAGGGAGAGGCTCTACTGTCTCCTCTTATAAGGACACTAATCCTAATCCTATCAGGGCCCCTCCCTTATGATCGCATTTGACCTTAATTACCTCCTACAGGTTCTATCTCTAAATGCAGTCAGATTGGGGGAGAAGGCTTCAACATACAGATTTTCAGAGGGGGGACACAATTCAGTCCTTAGCACAACTACTGGATATTTAATTATTTATTTTAAAATCAAGGGAAAGACTGCCAGGAGAGGTGGCCACCAGTCAAGGCTCTGTGACATAAAAAGTGGATTATTTTCTAACN | pathogenic | 80,485 |
Determine whether the variant at chromosome 4, position 15502471, in gene CC2D2A (coiled-coil and C2 domain containing 2A) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6'] | TGAAAAATGACTTGATTTTAAGTGAGTTTTAAAAGAATGCCAAAGGCCATTTTATTAAGCTAATGGAGATTCTCTTAAAGAACTTTGAACCTCAACACATGCATGCCAGACTCTAATCATTACCATAAATATTTCATGCCTCCATACAGGCATTAAGTGATAGTTGGGGGCATGATATAAGTAGTATTTTATAGCTTTCTATCACACATATGGAAGAAGGCACAACCCAAGAAACGGAGTGGCTGTGCTGCAGAAATGGGCTTTGAGGCTGGTGACTGTTGTCTTTGCTTGCATAAAGCAGGCTCAGGAGGAACCTGCAGACCTGTTATCTTTGCCTTCTCTCTGCCACTTTTCCTTCTACCACTCTTACTTTCACCTGCTGCCTTCCTCCCACGACAGTGTCATTGTCTACAAGCGTGAGGATCCTTCTCTCCTCAGGAAACTCCTTAAGGCTTCAGCGCTCACCATGGTTGAAAGCCTTCCCAAGCCTTTACTGTTCAGTCTGGCCCCTCTCCCAGAGCTTGGTGTCCTGGACAAGCACCTGCGACTTATCTGGCCCCAGACAAATTCACTCCAACATCTCCCAGTCTGACTTCCCGTCTCGTTTTTCTTTCTCAGCATCATCAAACTCCTCGTGTTGAAACCTCAGATTCCCTCACTTTTTCCTTATTTCTCTATAGCGGGGTCCTCCAGGTTGAGTGTGTGTTTAAACTCCCTGGGTGTCTGGGCTGTACCTCCAGGTTTTGGAGTATGCCTGAAAATCTGTGTATCTAAAAAGTTTCCAGAAGACACGACTGCTGCTGCTGCTGCTGACCATTTTTCCATACCTACCAATTGCCACTAGGCTCTATTGTATTTTCCTTTGTGTGGCCTGTCTTACTTACTCACACTGACCCCCTTTCCTTCCTATCTCACACCAGGACATCCTGACTGGGGTCCCTGGCACCTCACCCACTCCACCCCAACCATCCTGTGGTACAGCTTCTGAAAACGCTGCTTGCATTCATGTCCTCCTCCCTGCACATTCTTCACGACATCCACACTGCTTGGGGAATATAGCCGAGACTCCTTAATGTGACATCAGAGGCTCTCCATAACTTGATCCCAAAATCCTTCTGCAATCTTGAGTCCTTCTTCATCCCAGTAGAGACACTCTGCTCCACCCATGCTAACATTCTGTTCCCCAAAGACTCCATTTTACTTCCACCTCTTTTGTAATGGTTTAGAGAATTGGGGAATGTGGGGCTGGGACCAAATCCCAAGGATTCCACATCCTAGGTGTGTGATGGTAGAGCCATTTATCACGCAGGACTGCAGAGCCTTCATCTTTGTGATACCCGGTGATCATAATACCTGGGGCACTCCTCACAAAGATAGCAGAAAAATTGTTGAGAAATACATTTGATGCAGGTATCACAGAACCTGGCACACAATAGCTGCCTGATAGTTCATGATATTTATGGGTAAATTCAATAATATACACAAAATGTATATTGTCTCTATGATATAGCCCAGGGATAAACCTGGGCCTATAGAAAATGTTTCTCTGATCAAAGATATCAGTGCAATTGAAAGTTAAACCCGGAAACCCCAAATTCATTAGCCACCCATTCACCCGACAAGCCTGTTTCTCAAATCAACAAACTTGAGAGCCTTTTCCCAGTGGCAATTGAATTGGTAAGTATTCATGTGCCTTGAACAATCAAGTGTCATTCATTTCATTCTTAGTTAAGTCAAGATGACAGTGCTAGGCAGGACTGAGGTTTTGTCTCTCAGTTTCAGAAAAGCCAAGACATGTACTTACTACATCAAAAGGATGGTTGTTAGCATGATCTCATGTTTGCTTATGTGAAGTTCTAAATGTGCAAAATAAAATTATGTTCTCTTATTTCTTTTTTAATTTAACCTTCCCTTTTGGGGGGAGGGAATTGTTTTAAAGTAATTTTCCTTTTTCTTTTCTTTTTCTTTTTTTTTTATTTTGTTTTGTTTTTGTTTTTGTTTTTTAGGCTTACCTCCAATTCCTTCAACTTCCAGAACAGGCTTTGCAGAATTTTCCATGAGGGGACGCATGAGGGAGAAATTGCAAGCAGCGAGGGTGAGAGAAACCACATGAATATTCTGTTCAGTGCTGATTGCAATCTTCCAGGGCTTGTCTAGCTTACTTTTTATGCTCCAAACTGCATGGATTTGAATACCATTCAATTTGTCTTTCAAGTTTTAAATGTTAATGTCTTATTTTGCATTGGCACAGATGAAAATTATGCTTCAGAATTTAATGTCACTTTTCTGAACCATTTTCCTTGCTCTTCCCCTTAAAGAAGGATAGCATGTATTTTTTACTGATTATTTCTCGGCATTCCTGACATCATGTAGCAGTAAATTTCTGTTTGACTTTTTAGTCCAAAGCAGAAAGTGCATTGCTGCAGGAAATCCCCACTCCTCGGCCCAGACGCTTACGAAGTCCCAGTAAGAAAGAATTGGAGACTGAATTTGGCACAGAGGTGAGAAATACCCTCTCTACTTTGTGATCAAAACCAGTAAAGCAGAATATAAAGTTTCCAGCAAAAGTTTTTAGAGCAGAGCTATGCACAGAGGAGGTATTAAATGCTTATTAATAATTATAATACACTTTGGGAGACTGAGGTGGGAGGATCGCTTGAGTCCAAGAGTTCAACACCAGCCTGGGCAACAGAGCAAGACCCCACCCCTACTAAAAATAAAAATAAAAAATTTAACTGGGCATGCTGGCTTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTAGGCCCAGGAGTTCAAAGCTGCAGTGAGCTATGATTAGGCCACTGCAGTCCTGCCTGGGCAACAGTGAGACCCTATTTCAAAAATATTAATAATTACAATAGCTACTATTTATAAGGTACTACTCTGTGCCAGGCATTTTACCACCTTTGTCCCATGTTATCACATTTCATTATCCCTACAGGGCAGGTACTATTATTTTCATTCACATTTAACAGATGAGGAAACTGAGGGTCAGAGTAGATGTGAAACCACCCTGGGTCACAGAGCATACATGTGGAAGAGTTGGGATTTGATCCCAGCTCTATATCATTTCCAGTCTGTCTCATTGGGTCAGCATTGCTGGATCCATGGATCTTCCTGGAAAGCAGGGAGAGAGATAAAAGTGCAGCAGAAAAATGGAGTCAGATGCTAAGGTCCTTGAATGTCACATTCAGGAGCCTCGGTAGTTTTCTACAAGCCATGGAAAGCTATTGACAACAGTAAGGGGAAGCAGTCTGAATGCACTAGAGTGAATTTCGTTCGTATTTGAGGTGCTGGTGAGGAATCTCAATATGTGTTCCTCCAGAGACACAGAGGAAGGGCCCAGACCTGGAAAAACAGATTTAGGAAGTGTTTCTACTGTGGTGAGTGTTTGAAGTTTTGAGAGTGCCTTTGGAGAAAACCTTAGAGTTAAAGCTGTTAAGGAGGAGAGGGAGCCAGGAAAAGAAACAGAGAGATTTCAGTGAGGGGTAAGCGCTAAGACGGCAGAAAAAGGAACAGAAAGAAAAACAGCAAATGGCTCAGGAGGTGTTTGCAACTACAATTCAATTGGTTTTTTGTTGTTTTTATTGGTTTGGGTTGTTTTTAACCATTAAGACAAAGAAGCCCAGGCTCTAGGGATATTTCTGATTTTTTAAATGATGCCTTTTCTTTTTCTGTGATGAGGTGTTATAAAATGTTACCTATATTCACCCCAAAGAAGTCACAAGTTGCATAATTATAAGGAATGTGGCAGCCTTGTTTATGTTTTGTGGTCGTCAGTAGGAACACTAGTCAGTCCAGTGAAATGGCTTTATGACTATTTGTTATGTGCCCTCATGATCCATTCCACTGAAAAAGCATTTCTTCCCTTTAATTCCCATTTATTTTCTTACTACAAAAGCCATAATTTAAAAATATTGGAAAATAAAGAAAAATATCTATAATCCCATCAGCTTGCCAAAAGAACTTTGGTTATTTTGGCGGGCATATGAGGCTAAGCATCTGGTCATGTTGGCTAAGTGACAGGAGGTTCAGGTCTTTTATATCTGGCTTTTT | TGAAAAATGACTTGATTTTAAGTGAGTTTTAAAAGAATGCCAAAGGCCATTTTATTAAGCTAATGGAGATTCTCTTAAAGAACTTTGAACCTCAACACATGCATGCCAGACTCTAATCATTACCATAAATATTTCATGCCTCCATACAGGCATTAAGTGATAGTTGGGGGCATGATATAAGTAGTATTTTATAGCTTTCTATCACACATATGGAAGAAGGCACAACCCAAGAAACGGAGTGGCTGTGCTGCAGAAATGGGCTTTGAGGCTGGTGACTGTTGTCTTTGCTTGCATAAAGCAGGCTCAGGAGGAACCTGCAGACCTGTTATCTTTGCCTTCTCTCTGCCACTTTTCCTTCTACCACTCTTACTTTCACCTGCTGCCTTCCTCCCACGACAGTGTCATTGTCTACAAGCGTGAGGATCCTTCTCTCCTCAGGAAACTCCTTAAGGCTTCAGCGCTCACCATGGTTGAAAGCCTTCCCAAGCCTTTACTGTTCAGTCTGGCCCCTCTCCCAGAGCTTGGTGTCCTGGACAAGCACCTGCGACTTATCTGGCCCCAGACAAATTCACTCCAACATCTCCCAGTCTGACTTCCCGTCTCGTTTTTCTTTCTCAGCATCATCAAACTCCTCGTGTTGAAACCTCAGATTCCCTCACTTTTTCCTTATTTCTCTATAGCGGGGTCCTCCAGGTTGAGTGTGTGTTTAAACTCCCTGGGTGTCTGGGCTGTACCTCCAGGTTTTGGAGTATGCCTGAAAATCTGTGTATCTAAAAAGTTTCCAGAAGACACGACTGCTGCTGCTGCTGCTGACCATTTTTCCATACCTACCAATTGCCACTAGGCTCTATTGTATTTTCCTTTGTGTGGCCTGTCTTACTTACTCACACTGACCCCCTTTCCTTCCTATCTCACACCAGGACATCCTGACTGGGGTCCCTGGCACCTCACCCACTCCACCCCAACCATCCTGTGGTACAGCTTCTGAAAACGCTGCTTGCATTCATGTCCTCCTCCCTGCACATTCTTCACGACATCCACACTGCTTGGGGAATATAGCCGAGACTCCTTAATGTGACATCAGAGGCTCTCCATAACTTGATCCCAAAATCCTTCTGCAATCTTGAGTCCTTCTTCATCCCAGTAGAGACACTCTGCTCCACCCATGCTAACATTCTGTTCCCCAAAGACTCCATTTTACTTCCACCTCTTTTGTAATGGTTTAGAGAATTGGGGAATGTGGGGCTGGGACCAAATCCCAAGGATTCCACATCCTAGGTGTGTGATGGTAGAGCCATTTATCACGCAGGACTGCAGAGCCTTCATCTTTGTGATACCCGGTGATCATAATACCTGGGGCACTCCTCACAAAGATAGCAGAAAAATTGTTGAGAAATACATTTGATGCAGGTATCACAGAACCTGGCACACAATAGCTGCCTGATAGTTCATGATATTTATGGGTAAATTCAATAATATACACAAAATGTATATTGTCTCTATGATATAGCCCAGGGATAAACCTGGGCCTATAGAAAATGTTTCTCTGATCAAAGATATCAGTGCAATTGAAAGTTAAACCCGGAAACCCCAAATTCATTAGCCACCCATTCACCCGACAAGCCTGTTTCTCAAATCAACAAACTTGAGAGCCTTTTCCCAGTGGCAATTGAATTGGTAAGTATTCATGTGCCTTGAACAATCAAGTGTCATTCATTTCATTCTTAGTTAAGTCAAGATGACAGTGCTAGGCAGGACTGAGGTTTTGTCTCTCAGTTTCAGAAAAGCCAAGACATGTACTTACTACATCAAAAGGATGGTTGTTAGCATGATCTCATGTTTGCTTATGTGAAGTTCTAAATGTGCAAAATAAAATTATGTTCTCTTATTTCTTTTTTAATTTAACCTTCCCTTTTGGGGGGAGGGAATTGTTTTAAAGTAATTTTCCTTTTTCTTTTCTTTTTCTTTTTTTTTTATTTTGTTTTGTTTTTGTTTTTGTTTTTTAGGCTTACCTCCAATTCCTTCAACTTCCAGAACAGGCTTTGCAGAATGAGGGGACGCATGAGGGAGAAATTGCAAGCAGCGAGGGTGAGAGAAACCACATGAATATTCTGTTCAGTGCTGATTGCAATCTTCCAGGGCTTGTCTAGCTTACTTTTTATGCTCCAAACTGCATGGATTTGAATACCATTCAATTTGTCTTTCAAGTTTTAAATGTTAATGTCTTATTTTGCATTGGCACAGATGAAAATTATGCTTCAGAATTTAATGTCACTTTTCTGAACCATTTTCCTTGCTCTTCCCCTTAAAGAAGGATAGCATGTATTTTTTACTGATTATTTCTCGGCATTCCTGACATCATGTAGCAGTAAATTTCTGTTTGACTTTTTAGTCCAAAGCAGAAAGTGCATTGCTGCAGGAAATCCCCACTCCTCGGCCCAGACGCTTACGAAGTCCCAGTAAGAAAGAATTGGAGACTGAATTTGGCACAGAGGTGAGAAATACCCTCTCTACTTTGTGATCAAAACCAGTAAAGCAGAATATAAAGTTTCCAGCAAAAGTTTTTAGAGCAGAGCTATGCACAGAGGAGGTATTAAATGCTTATTAATAATTATAATACACTTTGGGAGACTGAGGTGGGAGGATCGCTTGAGTCCAAGAGTTCAACACCAGCCTGGGCAACAGAGCAAGACCCCACCCCTACTAAAAATAAAAATAAAAAATTTAACTGGGCATGCTGGCTTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTAGGCCCAGGAGTTCAAAGCTGCAGTGAGCTATGATTAGGCCACTGCAGTCCTGCCTGGGCAACAGTGAGACCCTATTTCAAAAATATTAATAATTACAATAGCTACTATTTATAAGGTACTACTCTGTGCCAGGCATTTTACCACCTTTGTCCCATGTTATCACATTTCATTATCCCTACAGGGCAGGTACTATTATTTTCATTCACATTTAACAGATGAGGAAACTGAGGGTCAGAGTAGATGTGAAACCACCCTGGGTCACAGAGCATACATGTGGAAGAGTTGGGATTTGATCCCAGCTCTATATCATTTCCAGTCTGTCTCATTGGGTCAGCATTGCTGGATCCATGGATCTTCCTGGAAAGCAGGGAGAGAGATAAAAGTGCAGCAGAAAAATGGAGTCAGATGCTAAGGTCCTTGAATGTCACATTCAGGAGCCTCGGTAGTTTTCTACAAGCCATGGAAAGCTATTGACAACAGTAAGGGGAAGCAGTCTGAATGCACTAGAGTGAATTTCGTTCGTATTTGAGGTGCTGGTGAGGAATCTCAATATGTGTTCCTCCAGAGACACAGAGGAAGGGCCCAGACCTGGAAAAACAGATTTAGGAAGTGTTTCTACTGTGGTGAGTGTTTGAAGTTTTGAGAGTGCCTTTGGAGAAAACCTTAGAGTTAAAGCTGTTAAGGAGGAGAGGGAGCCAGGAAAAGAAACAGAGAGATTTCAGTGAGGGGTAAGCGCTAAGACGGCAGAAAAAGGAACAGAAAGAAAAACAGCAAATGGCTCAGGAGGTGTTTGCAACTACAATTCAATTGGTTTTTTGTTGTTTTTATTGGTTTGGGTTGTTTTTAACCATTAAGACAAAGAAGCCCAGGCTCTAGGGATATTTCTGATTTTTTAAATGATGCCTTTTCTTTTTCTGTGATGAGGTGTTATAAAATGTTACCTATATTCACCCCAAAGAAGTCACAAGTTGCATAATTATAAGGAATGTGGCAGCCTTGTTTATGTTTTGTGGTCGTCAGTAGGAACACTAGTCAGTCCAGTGAAATGGCTTTATGACTATTTGTTATGTGCCCTCATGATCCATTCCACTGAAAAAGCATTTCTTCCCTTTAATTCCCATTTATTTTCTTACTACAAAAGCCATAATTTAAAAATATTGGAAAATAAAGAAAAATATCTATAATCCCATCAGCTTGCCAAAAGAACTTTGGTTATTTTGGCGGGCATATGAGGCTAAGCATCTGGTCATGTTGGCTAAGTGACAGGAGGTTCAGGTCTTTTATATCTGGCTTTTTNNNNNNN | pathogenic | 80,493 |
Is the chromosome 4, position 15510218 variant in CC2D2A (coiled-coil and C2 domain containing 2A) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['CC2D2A-related_disorder', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome'] | CTGAGAAGCAGTCTACGTGACTCCTCAGAGGATCCCTGTGGGTTAAACTCTCTTGCCCACAGTGGTAGCCTTGTCAATCAAGTTCTCCTGCACTCACTTTCCACCTGCTTTATTCTTCCCAGTCCCCAGTTCCTGTTCTTTGGTGTCACTTCTCAGAGTCAACTACAGGCACAGAAAAACCCTTGCCACAGGCTCTGGTTTCCCATGGGCTAAACTAAAATGTTTAGTCGTATCATATGAATACAAACTATAGACCAAAAAAAAGACATGTAAGAAAAAGCTAGTAATATGATAATAATGGCTACCATTAATGCACCTGACTGGTTATATTTTATGTACATTTCCTTATTTGATGCTCTACTCAAGTGGCCTAAGTTGTAAGTGGTACAGTTAAAATTCAAAGCCAGGCAGTCAGACTTTAGAGCCTATGGTTTCAACTGCCAAGCTCTACAAGACAGTGCCTGATATGAATCAGACAATTTGATTCCAAAAAGAGAGTTCATTTTAGGATGGAGAAAGGAAGTAGCTTTGTGTGGTCTTGAGGAACAGGTAGGACTTGGGAAGGATATATTGAAGGTCCCCAGTGAAGATGGCACACTACATGACTGTTGTTGGGTGACAGTTATTCCATGCTGTGAAATAATTCTCTGTCCATATAATAATGATCAAGTTTCTGTCATAGGTAGAATAAGTATGTTCCTTCTTGCCATGAACACCTATATGTGCTACTGGGATGGCTTAGAATTGCTCAAAATTGCTTGACATTTAGATTGTGCTTCATGAAAAAGGAGGAGTATCTGGGTTTTAAAAGGGGTGGATTAGAAGGAGAGATGGGTAAGAAGTTGGAAACAGCACCTTGCAGATTAGCTTTCAGAGGCAAAAGGGAATACCCATATGATAACTATCACATAGAGCAAGTAGAGACAGAGGGCTCAGCTTCCCAGGGTGGATAGCAGGACCAGAGGTTCAGTGAGGACAGGCCATGTACCCTGGAGGATGTGTGTTGGACTTACTTACAATCAGACATTATCAATGTTTTTCTTTATAGACTGTTTGGAAATGATCCTCTGTGAAGTGGATAATCTTAATTTATAGGATGAGATAACACTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTATCTCCCAGGCTGGAGTGCAGTGCTGCAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGGGATTTTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTGGCTAAACTTTGTATTTTTAGTAAAGGTGGGGTTTCACTATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGAGTTCAAGCATGAGCCACTGCATCTGGACAACAGTTTTCATTTTAAAGCTTATTGAGTATACAATTTTACATTTGTTCAGTCTTGAGAGAGACGAGTTGAGTAAGAAAATATCAACATCAACCTTCAAATATACAGTCATGCATCACTTAGTGATGGGGATATGTTCTGAGAAATGTGTTCTTAGGCATTTTCGTCATTGTGTGAACCCATTGTGTGAAGGTACCTACACAAACCTAAATGGCATAGCCAACTACACACCAAGGCTGCAAACCTGAAGAGCATGTTACTTTTCTAAATACCATAGCAATGTAACACAATGGTAAGTATTTTTTTATGTAAACATAAAAAGGGTACAGTAAAAATACCGTATTTATAGTCTATGAGACCTCCGTCATGCATGCAGTTCTACAGGCTGTCGCTATGGAGCGCATGACTGCATTTGAAATTTGCCAGCATTCCATGCCTTAGGAATGATAAGATGCAGCAGCAGTCAGAAGATAAGCCTTTGGGATGGGGGGGTTAACCTTCATTTTAGAACAGCCTAAGTTTCTTGGGTTAAATGGTTTATCTATCATTTTTTTCCACTCATATAGCCAGGGAAAGAGGTAGAAAGGACTCAACAAGAAGTTGACTCCCAAAGTTACTCAAGAGTCAAGTTCCATGATTCTGCACGAAAAATCAAGCCTAAACCCCAGGTGAGAAATCTTGTTTTTTAAAATCATTTGTTTGTTTGTGTTTTTTACAAATATCCAATGACACATGACTACAGGCCGGGTGTGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGACAGGCAGATATATTGAGCACAGGAGTTCAAGACCAGCCTGGACAACATGGCGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCAGACATGGTGGCACACACCTGTGGTCCAAGCTACCTGGGAGGCTGAGATGGGAGGATCACTTGAGCCCATGAGGTCGAAGCTGCAGTGAGCCATGATTGTGCCACTGCATTCCAGCCTGGGTGACAGAGTGAGACCTCATCTCTTAATTAAAAATAAATAAATGACTACATATATAACCTGACTCCTGTTGCCATGCAGTTTGCAAGAAAAAAGTATGAGAAGTGATTCCAACTTTCATACTAACTGGAGAGATCAGAATATTGCCTGACTTGAGGATGAGGGAGTGCATGGAAAGACAGGAAATGTTGGTGATAAGACAGTTTGTTCAGCTCTGAAGTTGCCCCGGCTTTCATTATAGGAAAAAAGGAGAGTACTAACTCCAAAAGAGAAACAACAAAAAAAGGTCATTTGTTTAAAAATTCTATATTTCTCATAATACAACAAAACTATCTCAGCATTGGCCAATAAAACAATAAATCCACTGTTTGTCATTTTAATAATCTTATCTAAAGTGTTTACTGCTATAAATATGTATTTACTTGTTGGAATGTAAATAATTGCTGGGGTTTTTTAAAGTCACTAATTAGAGTTACTATTAAAGGAGGCCTCCAACTGCCTGTGGCAGATATTAAAGTTTATTACCAGTAGTCTCACACCTTTAACTAAGACAATATGCTTCGGAGGCCTGGAATATGCCTGATCTCATTAGCATTAAGCCAGCTGTCAGTTAATTGTGCAGAGCGCATTACAGCTTATAAATGGGAAATTGCGATTGCTCCTTGCTTTTCGTTAGGTTCCACCTGGCTTCCCTTCTGCAGAAGAGGCCTATAACTTCTTTACTTTCAACTTTGATCCCGAACCAGAAGGATCAGAGGAAAAACCAAAAGCAAGACATAGAGCGGGAACTAATCAAGAGGAGGAGGAAGGGGAAGAAGAAGAACCACCTGCACAAGGAGGAGGAAAGGAAATGGTATTTAATATCAGGATGGTAATGAGGTGTGGGTGGAGGGCTAGGAGGAAAAAGCTGATGTCCCTGCAAGAAAGAAAGTGGCTGAGGAGAAACCTGCCACCACCAGGAGAATGACACTCCACGTCTGAGTTGAAATCCCAAGTACTGAATTCACATGGCTCCCTGTAGCTCTGGGTTAGACCCTACAATGTGGTAGGAAGAACCTTGATTAAACCTGTTTATTTTTCTTTTGTGGAAAAAAGAATTAAATAATGTGGCTTGAGGGTTTTTCTTGCTAGACTCCACGTAATGATTAGTATTTATTCCATGTGCAAAATATGTTCCTCTGCAAGGCAAATGAAATCTTGGTCTCTCTCTTACCACAACCTTACAAAGTAAGCAGCATTTTGTGCCCAAACACCACACCCAGGCTACAACTCAAATTCTGCAACTGTGGGTGGTATGTGTGAGATAAAAGGAGAATAAGCCATTTAAAAATGGGCAAAGGTATTGAATAGACATTTCTTCAAAGAAGACATACAAATAGACAATAAGCCCATAAAAAGATTCTTAACACCAATCATCATAAGGGAAATGCAAATCAAACCCACAATGAGATACCCCTGCACATCCATTAGAATGGCGCTTATCAAAAAATAAGTGTTATAGAGGATATGGAGAAATTGGACTTTGGTGCGTTGCTTGTAGCCATGTAAAACAGTGCAGCTGCTGTGAAAAACAGTATGGTGGTCCTTCAAAAGTTAACCACAGATTTACAATATGATCCAGCAATTCAATTCCACTCTGTGTATATATCCAAAAACACTGAAGACAAGAATTTGAACATATACTTGTGCACCGAT | CTGAGAAGCAGTCTACGTGACTCCTCAGAGGATCCCTGTGGGTTAAACTCTCTTGCCCACAGTGGTAGCCTTGTCAATCAAGTTCTCCTGCACTCACTTTCCACCTGCTTTATTCTTCCCAGTCCCCAGTTCCTGTTCTTTGGTGTCACTTCTCAGAGTCAACTACAGGCACAGAAAAACCCTTGCCACAGGCTCTGGTTTCCCATGGGCTAAACTAAAATGTTTAGTCGTATCATATGAATACAAACTATAGACCAAAAAAAAGACATGTAAGAAAAAGCTAGTAATATGATAATAATGGCTACCATTAATGCACCTGACTGGTTATATTTTATGTACATTTCCTTATTTGATGCTCTACTCAAGTGGCCTAAGTTGTAAGTGGTACAGTTAAAATTCAAAGCCAGGCAGTCAGACTTTAGAGCCTATGGTTTCAACTGCCAAGCTCTACAAGACAGTGCCTGATATGAATCAGACAATTTGATTCCAAAAAGAGAGTTCATTTTAGGATGGAGAAAGGAAGTAGCTTTGTGTGGTCTTGAGGAACAGGTAGGACTTGGGAAGGATATATTGAAGGTCCCCAGTGAAGATGGCACACTACATGACTGTTGTTGGGTGACAGTTATTCCATGCTGTGAAATAATTCTCTGTCCATATAATAATGATCAAGTTTCTGTCATAGGTAGAATAAGTATGTTCCTTCTTGCCATGAACACCTATATGTGCTACTGGGATGGCTTAGAATTGCTCAAAATTGCTTGACATTTAGATTGTGCTTCATGAAAAAGGAGGAGTATCTGGGTTTTAAAAGGGGTGGATTAGAAGGAGAGATGGGTAAGAAGTTGGAAACAGCACCTTGCAGATTAGCTTTCAGAGGCAAAAGGGAATACCCATATGATAACTATCACATAGAGCAAGTAGAGACAGAGGGCTCAGCTTCCCAGGGTGGATAGCAGGACCAGAGGTTCAGTGAGGACAGGCCATGTACCCTGGAGGATGTGTGTTGGACTTACTTACAATCAGACATTATCAATGTTTTTCTTTATAGACTGTTTGGAAATGATCCTCTGTGAAGTGGATAATCTTAATTTATAGGATGAGATAACACTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTATCTCCCAGGCTGGAGTGCAGTGCTGCAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGGGATTTTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTGGCTAAACTTTGTATTTTTAGTAAAGGTGGGGTTTCACTATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGAGTTCAAGCATGAGCCACTGCATCTGGACAACAGTTTTCATTTTAAAGCTTATTGAGTATACAATTTTACATTTGTTCAGTCTTGAGAGAGACGAGTTGAGTAAGAAAATATCAACATCAACCTTCAAATATACAGTCATGCATCACTTAGTGATGGGGATATGTTCTGAGAAATGTGTTCTTAGGCATTTTCGTCATTGTGTGAACCCATTGTGTGAAGGTACCTACACAAACCTAAATGGCATAGCCAACTACACACCAAGGCTGCAAACCTGAAGAGCATGTTACTTTTCTAAATACCATAGCAATGTAACACAATGGTAAGTATTTTTTTATGTAAACATAAAAAGGGTACAGTAAAAATACCGTATTTATAGTCTATGAGACCTCCGTCATGCATGCAGTTCTACAGGCTGTCGCTATGGAGCGCATGACTGCATTTGAAATTTGCCAGCATTCCATGCCTTAGGAATGATAAGATGCAGCAGCAGTCAGAAGATAAGCCTTTGGGATGGGGGGGTTAACCTTCATTTTAGAACAGCCTAAGTTTCTTGGGTTAAATGGTTTATCTATCATTTTTTTCCACTCATATAGCCAGGGAAAGAGGTAGAAAGGACTCAACAAGAAGTTGACTCCCAAAGTTACTCAAGAGTCAAGTTCCATGATTCTGCACGAAAATCAAGCCTAAACCCCAGGTGAGAAATCTTGTTTTTTAAAATCATTTGTTTGTTTGTGTTTTTTACAAATATCCAATGACACATGACTACAGGCCGGGTGTGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGACAGGCAGATATATTGAGCACAGGAGTTCAAGACCAGCCTGGACAACATGGCGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCAGACATGGTGGCACACACCTGTGGTCCAAGCTACCTGGGAGGCTGAGATGGGAGGATCACTTGAGCCCATGAGGTCGAAGCTGCAGTGAGCCATGATTGTGCCACTGCATTCCAGCCTGGGTGACAGAGTGAGACCTCATCTCTTAATTAAAAATAAATAAATGACTACATATATAACCTGACTCCTGTTGCCATGCAGTTTGCAAGAAAAAAGTATGAGAAGTGATTCCAACTTTCATACTAACTGGAGAGATCAGAATATTGCCTGACTTGAGGATGAGGGAGTGCATGGAAAGACAGGAAATGTTGGTGATAAGACAGTTTGTTCAGCTCTGAAGTTGCCCCGGCTTTCATTATAGGAAAAAAGGAGAGTACTAACTCCAAAAGAGAAACAACAAAAAAAGGTCATTTGTTTAAAAATTCTATATTTCTCATAATACAACAAAACTATCTCAGCATTGGCCAATAAAACAATAAATCCACTGTTTGTCATTTTAATAATCTTATCTAAAGTGTTTACTGCTATAAATATGTATTTACTTGTTGGAATGTAAATAATTGCTGGGGTTTTTTAAAGTCACTAATTAGAGTTACTATTAAAGGAGGCCTCCAACTGCCTGTGGCAGATATTAAAGTTTATTACCAGTAGTCTCACACCTTTAACTAAGACAATATGCTTCGGAGGCCTGGAATATGCCTGATCTCATTAGCATTAAGCCAGCTGTCAGTTAATTGTGCAGAGCGCATTACAGCTTATAAATGGGAAATTGCGATTGCTCCTTGCTTTTCGTTAGGTTCCACCTGGCTTCCCTTCTGCAGAAGAGGCCTATAACTTCTTTACTTTCAACTTTGATCCCGAACCAGAAGGATCAGAGGAAAAACCAAAAGCAAGACATAGAGCGGGAACTAATCAAGAGGAGGAGGAAGGGGAAGAAGAAGAACCACCTGCACAAGGAGGAGGAAAGGAAATGGTATTTAATATCAGGATGGTAATGAGGTGTGGGTGGAGGGCTAGGAGGAAAAAGCTGATGTCCCTGCAAGAAAGAAAGTGGCTGAGGAGAAACCTGCCACCACCAGGAGAATGACACTCCACGTCTGAGTTGAAATCCCAAGTACTGAATTCACATGGCTCCCTGTAGCTCTGGGTTAGACCCTACAATGTGGTAGGAAGAACCTTGATTAAACCTGTTTATTTTTCTTTTGTGGAAAAAAGAATTAAATAATGTGGCTTGAGGGTTTTTCTTGCTAGACTCCACGTAATGATTAGTATTTATTCCATGTGCAAAATATGTTCCTCTGCAAGGCAAATGAAATCTTGGTCTCTCTCTTACCACAACCTTACAAAGTAAGCAGCATTTTGTGCCCAAACACCACACCCAGGCTACAACTCAAATTCTGCAACTGTGGGTGGTATGTGTGAGATAAAAGGAGAATAAGCCATTTAAAAATGGGCAAAGGTATTGAATAGACATTTCTTCAAAGAAGACATACAAATAGACAATAAGCCCATAAAAAGATTCTTAACACCAATCATCATAAGGGAAATGCAAATCAAACCCACAATGAGATACCCCTGCACATCCATTAGAATGGCGCTTATCAAAAAATAAGTGTTATAGAGGATATGGAGAAATTGGACTTTGGTGCGTTGCTTGTAGCCATGTAAAACAGTGCAGCTGCTGTGAAAAACAGTATGGTGGTCCTTCAAAAGTTAACCACAGATTTACAATATGATCCAGCAATTCAATTCCACTCTGTGTATATATCCAAAAACACTGAAGACAAGAATTTGAACATATACTTGTGCACCGATN | pathogenic | 80,501 |
A mutation at chromosome position 15511353 on chromosome 4 in gene CC2D2A (coiled-coil and C2 domain containing 2A): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome'] | GCTCTATCTCCCAGGCTGGAGTGCAGTGCTGCAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGGGATTTTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTGGCTAAACTTTGTATTTTTAGTAAAGGTGGGGTTTCACTATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGAGTTCAAGCATGAGCCACTGCATCTGGACAACAGTTTTCATTTTAAAGCTTATTGAGTATACAATTTTACATTTGTTCAGTCTTGAGAGAGACGAGTTGAGTAAGAAAATATCAACATCAACCTTCAAATATACAGTCATGCATCACTTAGTGATGGGGATATGTTCTGAGAAATGTGTTCTTAGGCATTTTCGTCATTGTGTGAACCCATTGTGTGAAGGTACCTACACAAACCTAAATGGCATAGCCAACTACACACCAAGGCTGCAAACCTGAAGAGCATGTTACTTTTCTAAATACCATAGCAATGTAACACAATGGTAAGTATTTTTTTATGTAAACATAAAAAGGGTACAGTAAAAATACCGTATTTATAGTCTATGAGACCTCCGTCATGCATGCAGTTCTACAGGCTGTCGCTATGGAGCGCATGACTGCATTTGAAATTTGCCAGCATTCCATGCCTTAGGAATGATAAGATGCAGCAGCAGTCAGAAGATAAGCCTTTGGGATGGGGGGGTTAACCTTCATTTTAGAACAGCCTAAGTTTCTTGGGTTAAATGGTTTATCTATCATTTTTTTCCACTCATATAGCCAGGGAAAGAGGTAGAAAGGACTCAACAAGAAGTTGACTCCCAAAGTTACTCAAGAGTCAAGTTCCATGATTCTGCACGAAAAATCAAGCCTAAACCCCAGGTGAGAAATCTTGTTTTTTAAAATCATTTGTTTGTTTGTGTTTTTTACAAATATCCAATGACACATGACTACAGGCCGGGTGTGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGACAGGCAGATATATTGAGCACAGGAGTTCAAGACCAGCCTGGACAACATGGCGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCAGACATGGTGGCACACACCTGTGGTCCAAGCTACCTGGGAGGCTGAGATGGGAGGATCACTTGAGCCCATGAGGTCGAAGCTGCAGTGAGCCATGATTGTGCCACTGCATTCCAGCCTGGGTGACAGAGTGAGACCTCATCTCTTAATTAAAAATAAATAAATGACTACATATATAACCTGACTCCTGTTGCCATGCAGTTTGCAAGAAAAAAGTATGAGAAGTGATTCCAACTTTCATACTAACTGGAGAGATCAGAATATTGCCTGACTTGAGGATGAGGGAGTGCATGGAAAGACAGGAAATGTTGGTGATAAGACAGTTTGTTCAGCTCTGAAGTTGCCCCGGCTTTCATTATAGGAAAAAAGGAGAGTACTAACTCCAAAAGAGAAACAACAAAAAAAGGTCATTTGTTTAAAAATTCTATATTTCTCATAATACAACAAAACTATCTCAGCATTGGCCAATAAAACAATAAATCCACTGTTTGTCATTTTAATAATCTTATCTAAAGTGTTTACTGCTATAAATATGTATTTACTTGTTGGAATGTAAATAATTGCTGGGGTTTTTTAAAGTCACTAATTAGAGTTACTATTAAAGGAGGCCTCCAACTGCCTGTGGCAGATATTAAAGTTTATTACCAGTAGTCTCACACCTTTAACTAAGACAATATGCTTCGGAGGCCTGGAATATGCCTGATCTCATTAGCATTAAGCCAGCTGTCAGTTAATTGTGCAGAGCGCATTACAGCTTATAAATGGGAAATTGCGATTGCTCCTTGCTTTTCGTTAGGTTCCACCTGGCTTCCCTTCTGCAGAAGAGGCCTATAACTTCTTTACTTTCAACTTTGATCCCGAACCAGAAGGATCAGAGGAAAAACCAAAAGCAAGACATAGAGCGGGAACTAATCAAGAGGAGGAGGAAGGGGAAGAAGAAGAACCACCTGCACAAGGAGGAGGAAAGGAAATGGTATTTAATATCAGGATGGTAATGAGGTGTGGGTGGAGGGCTAGGAGGAAAAAGCTGATGTCCCTGCAAGAAAGAAAGTGGCTGAGGAGAAACCTGCCACCACCAGGAGAATGACACTCCACGTCTGAGTTGAAATCCCAAGTACTGAATTCACATGGCTCCCTGTAGCTCTGGGTTAGACCCTACAATGTGGTAGGAAGAACCTTGATTAAACCTGTTTATTTTTCTTTTGTGGAAAAAAGAATTAAATAATGTGGCTTGAGGGTTTTTCTTGCTAGACTCCACGTAATGATTAGTATTTATTCCATGTGCAAAATATGTTCCTCTGCAAGGCAAATGAAATCTTGGTCTCTCTCTTACCACAACCTTACAAAGTAAGCAGCATTTTGTGCCCAAACACCACACCCAGGCTACAACTCAAATTCTGCAACTGTGGGTGGTATGTGTGAGATAAAAGGAGAATAAGCCATTTAAAAATGGGCAAAGGTATTGAATAGACATTTCTTCAAAGAAGACATACAAATAGACAATAAGCCCATAAAAAGATTCTTAACACCAATCATCATAAGGGAAATGCAAATCAAACCCACAATGAGATACCCCTGCACATCCATTAGAATGGCGCTTATCAAAAAATAAGTGTTATAGAGGATATGGAGAAATTGGACTTTGGTGCGTTGCTTGTAGCCATGTAAAACAGTGCAGCTGCTGTGAAAAACAGTATGGTGGTCCTTCAAAAGTTAACCACAGATTTACAATATGATCCAGCAATTCAATTCCACTCTGTGTATATATCCAAAAACACTGAAGACAAGAATTTGAACATATACTTGTGCACCGATGTTCATAGCAGCATTATTCACAAAAGCCAAAAGGTAGAAGCAACCCAAGTGTTCATCGGAAGATAAATGGATAAACATAAATATACAATGGAATATTATACAACCGCAGAAAGCATGGAAATTCTGACACATGCCACAACATAGATATACCTTGAAGACATTACACTAAGAAAAATAAGCCAGTCACAAAAGAATAAATATTGTGTGATTTCACTTATATGAGCTACATTGTATCATCAAAATCATAGAGACAGAAAGTAGAATGGTGGTTGTCAGAGGTTAGAGGAAGGAGGGAATGTTTAATGGGTATAGAATTTCAGTCTGGGAAGATGGATGGATGGTGGTAAGGGTAGAATCACAATATGAATTTACTTAATGCCACTGAACTGTTCACCTAAAAATGGTTAAAATGGGCCGGGTGCGGTGGCCTGTAATCCCAGCTTTGGGAGGCCGAGGAGGGCGGATCACCTAAGGTCAGGAGTTCACGACCAGGCTTGGCCAACGTGGTGAAACCCTGTCTCTACTAAAATTACAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCAGCTACTCAGGAGGCTGAGGCAGGAGTATTACTTGAACACGAGAGGCAGACGTTGCAGTGAGCCGAGATTGCGCTATTGCACTCCAGCCTAGATGACAAAGCAAGACTCTGTCTCAAAAAAAAAAAAAAGGTTAAAATGGTGGACTTCATGTTATATATATTTTACCACATTAAAAATAAGGAAAACACACTAGGATATTCTAGTATTCACATAATTGGCATACTTCTGTGCTTCACTTACAATCTCCTCCCTTGAAAAATGCCTCCCGGAAATGTACTTTTTTTACCTAGATCTACAGAAGCTTGGGAATATTTTAGCTTATTCTATAACAATCATTCTACAAATCAGCATTCAGGCCATTCAACATTGCTTGAGTGTCCTCCTGACATGACAGCTAACTTCCCAAAAGCAAGTGATCTAGGGGAGAACCCAAAAAAGAAGCCACAGTTCCTTTTATGACCTAGTCTCAGGAGCCACATACTGTCACTTCTGCCATATTCTACTCAGGAGAAGCAAGTCACGAGACGTAGTGCACTCTCAAATGGAGGAGAATTGGGCTTCAC | GCTCTATCTCCCAGGCTGGAGTGCAGTGCTGCAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGGGATTTTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTGGCTAAACTTTGTATTTTTAGTAAAGGTGGGGTTTCACTATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGAGTTCAAGCATGAGCCACTGCATCTGGACAACAGTTTTCATTTTAAAGCTTATTGAGTATACAATTTTACATTTGTTCAGTCTTGAGAGAGACGAGTTGAGTAAGAAAATATCAACATCAACCTTCAAATATACAGTCATGCATCACTTAGTGATGGGGATATGTTCTGAGAAATGTGTTCTTAGGCATTTTCGTCATTGTGTGAACCCATTGTGTGAAGGTACCTACACAAACCTAAATGGCATAGCCAACTACACACCAAGGCTGCAAACCTGAAGAGCATGTTACTTTTCTAAATACCATAGCAATGTAACACAATGGTAAGTATTTTTTTATGTAAACATAAAAAGGGTACAGTAAAAATACCGTATTTATAGTCTATGAGACCTCCGTCATGCATGCAGTTCTACAGGCTGTCGCTATGGAGCGCATGACTGCATTTGAAATTTGCCAGCATTCCATGCCTTAGGAATGATAAGATGCAGCAGCAGTCAGAAGATAAGCCTTTGGGATGGGGGGGTTAACCTTCATTTTAGAACAGCCTAAGTTTCTTGGGTTAAATGGTTTATCTATCATTTTTTTCCACTCATATAGCCAGGGAAAGAGGTAGAAAGGACTCAACAAGAAGTTGACTCCCAAAGTTACTCAAGAGTCAAGTTCCATGATTCTGCACGAAAAATCAAGCCTAAACCCCAGGTGAGAAATCTTGTTTTTTAAAATCATTTGTTTGTTTGTGTTTTTTACAAATATCCAATGACACATGACTACAGGCCGGGTGTGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGACAGGCAGATATATTGAGCACAGGAGTTCAAGACCAGCCTGGACAACATGGCGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCAGACATGGTGGCACACACCTGTGGTCCAAGCTACCTGGGAGGCTGAGATGGGAGGATCACTTGAGCCCATGAGGTCGAAGCTGCAGTGAGCCATGATTGTGCCACTGCATTCCAGCCTGGGTGACAGAGTGAGACCTCATCTCTTAATTAAAAATAAATAAATGACTACATATATAACCTGACTCCTGTTGCCATGCAGTTTGCAAGAAAAAAGTATGAGAAGTGATTCCAACTTTCATACTAACTGGAGAGATCAGAATATTGCCTGACTTGAGGATGAGGGAGTGCATGGAAAGACAGGAAATGTTGGTGATAAGACAGTTTGTTCAGCTCTGAAGTTGCCCCGGCTTTCATTATAGGAAAAAAGGAGAGTACTAACTCCAAAAGAGAAACAACAAAAAAAGGTCATTTGTTTAAAAATTCTATATTTCTCATAATACAACAAAACTATCTCAGCATTGGCCAATAAAACAATAAATCCACTGTTTGTCATTTTAATAATCTTATCTAAAGTGTTTACTGCTATAAATATGTATTTACTTGTTGGAATGTAAATAATTGCTGGGGTTTTTTAAAGTCACTAATTAGAGTTACTATTAAAGGAGGCCTCCAACTGCCTGTGGCAGATATTAAAGTTTATTACCAGTAGTCTCACACCTTTAACTAAGACAATATGCTTCGGAGGCCTGGAATATGCCTGATCTCATTAGCATTAAGCCAGCTGTCAGTTAATTGTGCAGAGCGCATTACAGCTTATAAATGGGAAATTGCGATTGCTCCTTGCTTTTCGTTAGGTTCCACCTGGCTTCCCTTCTGCAGAAGAGGCCTATAACTTCTTTACTTTCAACTTTGATCCCGAACCAGAAGGATCAGAGGAAAAACCAAAAGCAAGACATAGAGCGGAACTAATCAAGAGGAGGAGGAAGGGGAAGAAGAAGAACCACCTGCACAAGGAGGAGGAAAGGAAATGGTATTTAATATCAGGATGGTAATGAGGTGTGGGTGGAGGGCTAGGAGGAAAAAGCTGATGTCCCTGCAAGAAAGAAAGTGGCTGAGGAGAAACCTGCCACCACCAGGAGAATGACACTCCACGTCTGAGTTGAAATCCCAAGTACTGAATTCACATGGCTCCCTGTAGCTCTGGGTTAGACCCTACAATGTGGTAGGAAGAACCTTGATTAAACCTGTTTATTTTTCTTTTGTGGAAAAAAGAATTAAATAATGTGGCTTGAGGGTTTTTCTTGCTAGACTCCACGTAATGATTAGTATTTATTCCATGTGCAAAATATGTTCCTCTGCAAGGCAAATGAAATCTTGGTCTCTCTCTTACCACAACCTTACAAAGTAAGCAGCATTTTGTGCCCAAACACCACACCCAGGCTACAACTCAAATTCTGCAACTGTGGGTGGTATGTGTGAGATAAAAGGAGAATAAGCCATTTAAAAATGGGCAAAGGTATTGAATAGACATTTCTTCAAAGAAGACATACAAATAGACAATAAGCCCATAAAAAGATTCTTAACACCAATCATCATAAGGGAAATGCAAATCAAACCCACAATGAGATACCCCTGCACATCCATTAGAATGGCGCTTATCAAAAAATAAGTGTTATAGAGGATATGGAGAAATTGGACTTTGGTGCGTTGCTTGTAGCCATGTAAAACAGTGCAGCTGCTGTGAAAAACAGTATGGTGGTCCTTCAAAAGTTAACCACAGATTTACAATATGATCCAGCAATTCAATTCCACTCTGTGTATATATCCAAAAACACTGAAGACAAGAATTTGAACATATACTTGTGCACCGATGTTCATAGCAGCATTATTCACAAAAGCCAAAAGGTAGAAGCAACCCAAGTGTTCATCGGAAGATAAATGGATAAACATAAATATACAATGGAATATTATACAACCGCAGAAAGCATGGAAATTCTGACACATGCCACAACATAGATATACCTTGAAGACATTACACTAAGAAAAATAAGCCAGTCACAAAAGAATAAATATTGTGTGATTTCACTTATATGAGCTACATTGTATCATCAAAATCATAGAGACAGAAAGTAGAATGGTGGTTGTCAGAGGTTAGAGGAAGGAGGGAATGTTTAATGGGTATAGAATTTCAGTCTGGGAAGATGGATGGATGGTGGTAAGGGTAGAATCACAATATGAATTTACTTAATGCCACTGAACTGTTCACCTAAAAATGGTTAAAATGGGCCGGGTGCGGTGGCCTGTAATCCCAGCTTTGGGAGGCCGAGGAGGGCGGATCACCTAAGGTCAGGAGTTCACGACCAGGCTTGGCCAACGTGGTGAAACCCTGTCTCTACTAAAATTACAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCAGCTACTCAGGAGGCTGAGGCAGGAGTATTACTTGAACACGAGAGGCAGACGTTGCAGTGAGCCGAGATTGCGCTATTGCACTCCAGCCTAGATGACAAAGCAAGACTCTGTCTCAAAAAAAAAAAAAAGGTTAAAATGGTGGACTTCATGTTATATATATTTTACCACATTAAAAATAAGGAAAACACACTAGGATATTCTAGTATTCACATAATTGGCATACTTCTGTGCTTCACTTACAATCTCCTCCCTTGAAAAATGCCTCCCGGAAATGTACTTTTTTTACCTAGATCTACAGAAGCTTGGGAATATTTTAGCTTATTCTATAACAATCATTCTACAAATCAGCATTCAGGCCATTCAACATTGCTTGAGTGTCCTCCTGACATGACAGCTAACTTCCCAAAAGCAAGTGATCTAGGGGAGAACCCAAAAAAGAAGCCACAGTTCCTTTTATGACCTAGTCTCAGGAGCCACATACTGTCACTTCTGCCATATTCTACTCAGGAGAAGCAAGTCACGAGACGTAGTGCACTCTCAAATGGAGGAGAATTGGGCTTCACN | pathogenic | 80,504 |
Is the genetic change at chromosome 4, position 15511381, within gene CC2D2A (coiled-coil and C2 domain containing 2A) benign or pathogenic? Name the disease(s) if pathogenic. | benign | CTGCAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGGGATTTTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTGGCTAAACTTTGTATTTTTAGTAAAGGTGGGGTTTCACTATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGAGTTCAAGCATGAGCCACTGCATCTGGACAACAGTTTTCATTTTAAAGCTTATTGAGTATACAATTTTACATTTGTTCAGTCTTGAGAGAGACGAGTTGAGTAAGAAAATATCAACATCAACCTTCAAATATACAGTCATGCATCACTTAGTGATGGGGATATGTTCTGAGAAATGTGTTCTTAGGCATTTTCGTCATTGTGTGAACCCATTGTGTGAAGGTACCTACACAAACCTAAATGGCATAGCCAACTACACACCAAGGCTGCAAACCTGAAGAGCATGTTACTTTTCTAAATACCATAGCAATGTAACACAATGGTAAGTATTTTTTTATGTAAACATAAAAAGGGTACAGTAAAAATACCGTATTTATAGTCTATGAGACCTCCGTCATGCATGCAGTTCTACAGGCTGTCGCTATGGAGCGCATGACTGCATTTGAAATTTGCCAGCATTCCATGCCTTAGGAATGATAAGATGCAGCAGCAGTCAGAAGATAAGCCTTTGGGATGGGGGGGTTAACCTTCATTTTAGAACAGCCTAAGTTTCTTGGGTTAAATGGTTTATCTATCATTTTTTTCCACTCATATAGCCAGGGAAAGAGGTAGAAAGGACTCAACAAGAAGTTGACTCCCAAAGTTACTCAAGAGTCAAGTTCCATGATTCTGCACGAAAAATCAAGCCTAAACCCCAGGTGAGAAATCTTGTTTTTTAAAATCATTTGTTTGTTTGTGTTTTTTACAAATATCCAATGACACATGACTACAGGCCGGGTGTGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGACAGGCAGATATATTGAGCACAGGAGTTCAAGACCAGCCTGGACAACATGGCGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCAGACATGGTGGCACACACCTGTGGTCCAAGCTACCTGGGAGGCTGAGATGGGAGGATCACTTGAGCCCATGAGGTCGAAGCTGCAGTGAGCCATGATTGTGCCACTGCATTCCAGCCTGGGTGACAGAGTGAGACCTCATCTCTTAATTAAAAATAAATAAATGACTACATATATAACCTGACTCCTGTTGCCATGCAGTTTGCAAGAAAAAAGTATGAGAAGTGATTCCAACTTTCATACTAACTGGAGAGATCAGAATATTGCCTGACTTGAGGATGAGGGAGTGCATGGAAAGACAGGAAATGTTGGTGATAAGACAGTTTGTTCAGCTCTGAAGTTGCCCCGGCTTTCATTATAGGAAAAAAGGAGAGTACTAACTCCAAAAGAGAAACAACAAAAAAAGGTCATTTGTTTAAAAATTCTATATTTCTCATAATACAACAAAACTATCTCAGCATTGGCCAATAAAACAATAAATCCACTGTTTGTCATTTTAATAATCTTATCTAAAGTGTTTACTGCTATAAATATGTATTTACTTGTTGGAATGTAAATAATTGCTGGGGTTTTTTAAAGTCACTAATTAGAGTTACTATTAAAGGAGGCCTCCAACTGCCTGTGGCAGATATTAAAGTTTATTACCAGTAGTCTCACACCTTTAACTAAGACAATATGCTTCGGAGGCCTGGAATATGCCTGATCTCATTAGCATTAAGCCAGCTGTCAGTTAATTGTGCAGAGCGCATTACAGCTTATAAATGGGAAATTGCGATTGCTCCTTGCTTTTCGTTAGGTTCCACCTGGCTTCCCTTCTGCAGAAGAGGCCTATAACTTCTTTACTTTCAACTTTGATCCCGAACCAGAAGGATCAGAGGAAAAACCAAAAGCAAGACATAGAGCGGGAACTAATCAAGAGGAGGAGGAAGGGGAAGAAGAAGAACCACCTGCACAAGGAGGAGGAAAGGAAATGGTATTTAATATCAGGATGGTAATGAGGTGTGGGTGGAGGGCTAGGAGGAAAAAGCTGATGTCCCTGCAAGAAAGAAAGTGGCTGAGGAGAAACCTGCCACCACCAGGAGAATGACACTCCACGTCTGAGTTGAAATCCCAAGTACTGAATTCACATGGCTCCCTGTAGCTCTGGGTTAGACCCTACAATGTGGTAGGAAGAACCTTGATTAAACCTGTTTATTTTTCTTTTGTGGAAAAAAGAATTAAATAATGTGGCTTGAGGGTTTTTCTTGCTAGACTCCACGTAATGATTAGTATTTATTCCATGTGCAAAATATGTTCCTCTGCAAGGCAAATGAAATCTTGGTCTCTCTCTTACCACAACCTTACAAAGTAAGCAGCATTTTGTGCCCAAACACCACACCCAGGCTACAACTCAAATTCTGCAACTGTGGGTGGTATGTGTGAGATAAAAGGAGAATAAGCCATTTAAAAATGGGCAAAGGTATTGAATAGACATTTCTTCAAAGAAGACATACAAATAGACAATAAGCCCATAAAAAGATTCTTAACACCAATCATCATAAGGGAAATGCAAATCAAACCCACAATGAGATACCCCTGCACATCCATTAGAATGGCGCTTATCAAAAAATAAGTGTTATAGAGGATATGGAGAAATTGGACTTTGGTGCGTTGCTTGTAGCCATGTAAAACAGTGCAGCTGCTGTGAAAAACAGTATGGTGGTCCTTCAAAAGTTAACCACAGATTTACAATATGATCCAGCAATTCAATTCCACTCTGTGTATATATCCAAAAACACTGAAGACAAGAATTTGAACATATACTTGTGCACCGATGTTCATAGCAGCATTATTCACAAAAGCCAAAAGGTAGAAGCAACCCAAGTGTTCATCGGAAGATAAATGGATAAACATAAATATACAATGGAATATTATACAACCGCAGAAAGCATGGAAATTCTGACACATGCCACAACATAGATATACCTTGAAGACATTACACTAAGAAAAATAAGCCAGTCACAAAAGAATAAATATTGTGTGATTTCACTTATATGAGCTACATTGTATCATCAAAATCATAGAGACAGAAAGTAGAATGGTGGTTGTCAGAGGTTAGAGGAAGGAGGGAATGTTTAATGGGTATAGAATTTCAGTCTGGGAAGATGGATGGATGGTGGTAAGGGTAGAATCACAATATGAATTTACTTAATGCCACTGAACTGTTCACCTAAAAATGGTTAAAATGGGCCGGGTGCGGTGGCCTGTAATCCCAGCTTTGGGAGGCCGAGGAGGGCGGATCACCTAAGGTCAGGAGTTCACGACCAGGCTTGGCCAACGTGGTGAAACCCTGTCTCTACTAAAATTACAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCAGCTACTCAGGAGGCTGAGGCAGGAGTATTACTTGAACACGAGAGGCAGACGTTGCAGTGAGCCGAGATTGCGCTATTGCACTCCAGCCTAGATGACAAAGCAAGACTCTGTCTCAAAAAAAAAAAAAAGGTTAAAATGGTGGACTTCATGTTATATATATTTTACCACATTAAAAATAAGGAAAACACACTAGGATATTCTAGTATTCACATAATTGGCATACTTCTGTGCTTCACTTACAATCTCCTCCCTTGAAAAATGCCTCCCGGAAATGTACTTTTTTTACCTAGATCTACAGAAGCTTGGGAATATTTTAGCTTATTCTATAACAATCATTCTACAAATCAGCATTCAGGCCATTCAACATTGCTTGAGTGTCCTCCTGACATGACAGCTAACTTCCCAAAAGCAAGTGATCTAGGGGAGAACCCAAAAAAGAAGCCACAGTTCCTTTTATGACCTAGTCTCAGGAGCCACATACTGTCACTTCTGCCATATTCTACTCAGGAGAAGCAAGTCACGAGACGTAGTGCACTCTCAAATGGAGGAGAATTGGGCTTCACCTGTTGAAGATAGAAGTCTCCAATTGCG | CTGCAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGGGATTTTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTGGCTAAACTTTGTATTTTTAGTAAAGGTGGGGTTTCACTATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGAGTTCAAGCATGAGCCACTGCATCTGGACAACAGTTTTCATTTTAAAGCTTATTGAGTATACAATTTTACATTTGTTCAGTCTTGAGAGAGACGAGTTGAGTAAGAAAATATCAACATCAACCTTCAAATATACAGTCATGCATCACTTAGTGATGGGGATATGTTCTGAGAAATGTGTTCTTAGGCATTTTCGTCATTGTGTGAACCCATTGTGTGAAGGTACCTACACAAACCTAAATGGCATAGCCAACTACACACCAAGGCTGCAAACCTGAAGAGCATGTTACTTTTCTAAATACCATAGCAATGTAACACAATGGTAAGTATTTTTTTATGTAAACATAAAAAGGGTACAGTAAAAATACCGTATTTATAGTCTATGAGACCTCCGTCATGCATGCAGTTCTACAGGCTGTCGCTATGGAGCGCATGACTGCATTTGAAATTTGCCAGCATTCCATGCCTTAGGAATGATAAGATGCAGCAGCAGTCAGAAGATAAGCCTTTGGGATGGGGGGGTTAACCTTCATTTTAGAACAGCCTAAGTTTCTTGGGTTAAATGGTTTATCTATCATTTTTTTCCACTCATATAGCCAGGGAAAGAGGTAGAAAGGACTCAACAAGAAGTTGACTCCCAAAGTTACTCAAGAGTCAAGTTCCATGATTCTGCACGAAAAATCAAGCCTAAACCCCAGGTGAGAAATCTTGTTTTTTAAAATCATTTGTTTGTTTGTGTTTTTTACAAATATCCAATGACACATGACTACAGGCCGGGTGTGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGACAGGCAGATATATTGAGCACAGGAGTTCAAGACCAGCCTGGACAACATGGCGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCAGACATGGTGGCACACACCTGTGGTCCAAGCTACCTGGGAGGCTGAGATGGGAGGATCACTTGAGCCCATGAGGTCGAAGCTGCAGTGAGCCATGATTGTGCCACTGCATTCCAGCCTGGGTGACAGAGTGAGACCTCATCTCTTAATTAAAAATAAATAAATGACTACATATATAACCTGACTCCTGTTGCCATGCAGTTTGCAAGAAAAAAGTATGAGAAGTGATTCCAACTTTCATACTAACTGGAGAGATCAGAATATTGCCTGACTTGAGGATGAGGGAGTGCATGGAAAGACAGGAAATGTTGGTGATAAGACAGTTTGTTCAGCTCTGAAGTTGCCCCGGCTTTCATTATAGGAAAAAAGGAGAGTACTAACTCCAAAAGAGAAACAACAAAAAAAGGTCATTTGTTTAAAAATTCTATATTTCTCATAATACAACAAAACTATCTCAGCATTGGCCAATAAAACAATAAATCCACTGTTTGTCATTTTAATAATCTTATCTAAAGTGTTTACTGCTATAAATATGTATTTACTTGTTGGAATGTAAATAATTGCTGGGGTTTTTTAAAGTCACTAATTAGAGTTACTATTAAAGGAGGCCTCCAACTGCCTGTGGCAGATATTAAAGTTTATTACCAGTAGTCTCACACCTTTAACTAAGACAATATGCTTCGGAGGCCTGGAATATGCCTGATCTCATTAGCATTAAGCCAGCTGTCAGTTAATTGTGCAGAGCGCATTACAGCTTATAAATGGGAAATTGCGATTGCTCCTTGCTTTTCGTTAGGTTCCACCTGGCTTCCCTTCTGCAGAAGAGGCCTATAACTTCTTTACTTTCAACTTTGATCCCGAACCAGAAGGATCAGAGGAAAAACCAAAAGCAAGACATAGAGCGGGAACTAATCAAGAGGAGGAGGAAGGGGAAGAAGAACCACCTGCACAAGGAGGAGGAAAGGAAATGGTATTTAATATCAGGATGGTAATGAGGTGTGGGTGGAGGGCTAGGAGGAAAAAGCTGATGTCCCTGCAAGAAAGAAAGTGGCTGAGGAGAAACCTGCCACCACCAGGAGAATGACACTCCACGTCTGAGTTGAAATCCCAAGTACTGAATTCACATGGCTCCCTGTAGCTCTGGGTTAGACCCTACAATGTGGTAGGAAGAACCTTGATTAAACCTGTTTATTTTTCTTTTGTGGAAAAAAGAATTAAATAATGTGGCTTGAGGGTTTTTCTTGCTAGACTCCACGTAATGATTAGTATTTATTCCATGTGCAAAATATGTTCCTCTGCAAGGCAAATGAAATCTTGGTCTCTCTCTTACCACAACCTTACAAAGTAAGCAGCATTTTGTGCCCAAACACCACACCCAGGCTACAACTCAAATTCTGCAACTGTGGGTGGTATGTGTGAGATAAAAGGAGAATAAGCCATTTAAAAATGGGCAAAGGTATTGAATAGACATTTCTTCAAAGAAGACATACAAATAGACAATAAGCCCATAAAAAGATTCTTAACACCAATCATCATAAGGGAAATGCAAATCAAACCCACAATGAGATACCCCTGCACATCCATTAGAATGGCGCTTATCAAAAAATAAGTGTTATAGAGGATATGGAGAAATTGGACTTTGGTGCGTTGCTTGTAGCCATGTAAAACAGTGCAGCTGCTGTGAAAAACAGTATGGTGGTCCTTCAAAAGTTAACCACAGATTTACAATATGATCCAGCAATTCAATTCCACTCTGTGTATATATCCAAAAACACTGAAGACAAGAATTTGAACATATACTTGTGCACCGATGTTCATAGCAGCATTATTCACAAAAGCCAAAAGGTAGAAGCAACCCAAGTGTTCATCGGAAGATAAATGGATAAACATAAATATACAATGGAATATTATACAACCGCAGAAAGCATGGAAATTCTGACACATGCCACAACATAGATATACCTTGAAGACATTACACTAAGAAAAATAAGCCAGTCACAAAAGAATAAATATTGTGTGATTTCACTTATATGAGCTACATTGTATCATCAAAATCATAGAGACAGAAAGTAGAATGGTGGTTGTCAGAGGTTAGAGGAAGGAGGGAATGTTTAATGGGTATAGAATTTCAGTCTGGGAAGATGGATGGATGGTGGTAAGGGTAGAATCACAATATGAATTTACTTAATGCCACTGAACTGTTCACCTAAAAATGGTTAAAATGGGCCGGGTGCGGTGGCCTGTAATCCCAGCTTTGGGAGGCCGAGGAGGGCGGATCACCTAAGGTCAGGAGTTCACGACCAGGCTTGGCCAACGTGGTGAAACCCTGTCTCTACTAAAATTACAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCAGCTACTCAGGAGGCTGAGGCAGGAGTATTACTTGAACACGAGAGGCAGACGTTGCAGTGAGCCGAGATTGCGCTATTGCACTCCAGCCTAGATGACAAAGCAAGACTCTGTCTCAAAAAAAAAAAAAAGGTTAAAATGGTGGACTTCATGTTATATATATTTTACCACATTAAAAATAAGGAAAACACACTAGGATATTCTAGTATTCACATAATTGGCATACTTCTGTGCTTCACTTACAATCTCCTCCCTTGAAAAATGCCTCCCGGAAATGTACTTTTTTTACCTAGATCTACAGAAGCTTGGGAATATTTTAGCTTATTCTATAACAATCATTCTACAAATCAGCATTCAGGCCATTCAACATTGCTTGAGTGTCCTCCTGACATGACAGCTAACTTCCCAAAAGCAAGTGATCTAGGGGAGAACCCAAAAAAGAAGCCACAGTTCCTTTTATGACCTAGTCTCAGGAGCCACATACTGTCACTTCTGCCATATTCTACTCAGGAGAAGCAAGTCACGAGACGTAGTGCACTCTCAAATGGAGGAGAATTGGGCTTCACCTGTTGAAGATAGAAGTCTCCAATTGCGNNN | benign | 80,505 |
Mutation found at chromosome 4 position 15511418, gene CC2D2A (coiled-coil and C2 domain containing 2A): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['COACH_syndrome_2', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | TTCAAGGGATTTTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTGGCTAAACTTTGTATTTTTAGTAAAGGTGGGGTTTCACTATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGAGTTCAAGCATGAGCCACTGCATCTGGACAACAGTTTTCATTTTAAAGCTTATTGAGTATACAATTTTACATTTGTTCAGTCTTGAGAGAGACGAGTTGAGTAAGAAAATATCAACATCAACCTTCAAATATACAGTCATGCATCACTTAGTGATGGGGATATGTTCTGAGAAATGTGTTCTTAGGCATTTTCGTCATTGTGTGAACCCATTGTGTGAAGGTACCTACACAAACCTAAATGGCATAGCCAACTACACACCAAGGCTGCAAACCTGAAGAGCATGTTACTTTTCTAAATACCATAGCAATGTAACACAATGGTAAGTATTTTTTTATGTAAACATAAAAAGGGTACAGTAAAAATACCGTATTTATAGTCTATGAGACCTCCGTCATGCATGCAGTTCTACAGGCTGTCGCTATGGAGCGCATGACTGCATTTGAAATTTGCCAGCATTCCATGCCTTAGGAATGATAAGATGCAGCAGCAGTCAGAAGATAAGCCTTTGGGATGGGGGGGTTAACCTTCATTTTAGAACAGCCTAAGTTTCTTGGGTTAAATGGTTTATCTATCATTTTTTTCCACTCATATAGCCAGGGAAAGAGGTAGAAAGGACTCAACAAGAAGTTGACTCCCAAAGTTACTCAAGAGTCAAGTTCCATGATTCTGCACGAAAAATCAAGCCTAAACCCCAGGTGAGAAATCTTGTTTTTTAAAATCATTTGTTTGTTTGTGTTTTTTACAAATATCCAATGACACATGACTACAGGCCGGGTGTGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGACAGGCAGATATATTGAGCACAGGAGTTCAAGACCAGCCTGGACAACATGGCGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCAGACATGGTGGCACACACCTGTGGTCCAAGCTACCTGGGAGGCTGAGATGGGAGGATCACTTGAGCCCATGAGGTCGAAGCTGCAGTGAGCCATGATTGTGCCACTGCATTCCAGCCTGGGTGACAGAGTGAGACCTCATCTCTTAATTAAAAATAAATAAATGACTACATATATAACCTGACTCCTGTTGCCATGCAGTTTGCAAGAAAAAAGTATGAGAAGTGATTCCAACTTTCATACTAACTGGAGAGATCAGAATATTGCCTGACTTGAGGATGAGGGAGTGCATGGAAAGACAGGAAATGTTGGTGATAAGACAGTTTGTTCAGCTCTGAAGTTGCCCCGGCTTTCATTATAGGAAAAAAGGAGAGTACTAACTCCAAAAGAGAAACAACAAAAAAAGGTCATTTGTTTAAAAATTCTATATTTCTCATAATACAACAAAACTATCTCAGCATTGGCCAATAAAACAATAAATCCACTGTTTGTCATTTTAATAATCTTATCTAAAGTGTTTACTGCTATAAATATGTATTTACTTGTTGGAATGTAAATAATTGCTGGGGTTTTTTAAAGTCACTAATTAGAGTTACTATTAAAGGAGGCCTCCAACTGCCTGTGGCAGATATTAAAGTTTATTACCAGTAGTCTCACACCTTTAACTAAGACAATATGCTTCGGAGGCCTGGAATATGCCTGATCTCATTAGCATTAAGCCAGCTGTCAGTTAATTGTGCAGAGCGCATTACAGCTTATAAATGGGAAATTGCGATTGCTCCTTGCTTTTCGTTAGGTTCCACCTGGCTTCCCTTCTGCAGAAGAGGCCTATAACTTCTTTACTTTCAACTTTGATCCCGAACCAGAAGGATCAGAGGAAAAACCAAAAGCAAGACATAGAGCGGGAACTAATCAAGAGGAGGAGGAAGGGGAAGAAGAAGAACCACCTGCACAAGGAGGAGGAAAGGAAATGGTATTTAATATCAGGATGGTAATGAGGTGTGGGTGGAGGGCTAGGAGGAAAAAGCTGATGTCCCTGCAAGAAAGAAAGTGGCTGAGGAGAAACCTGCCACCACCAGGAGAATGACACTCCACGTCTGAGTTGAAATCCCAAGTACTGAATTCACATGGCTCCCTGTAGCTCTGGGTTAGACCCTACAATGTGGTAGGAAGAACCTTGATTAAACCTGTTTATTTTTCTTTTGTGGAAAAAAGAATTAAATAATGTGGCTTGAGGGTTTTTCTTGCTAGACTCCACGTAATGATTAGTATTTATTCCATGTGCAAAATATGTTCCTCTGCAAGGCAAATGAAATCTTGGTCTCTCTCTTACCACAACCTTACAAAGTAAGCAGCATTTTGTGCCCAAACACCACACCCAGGCTACAACTCAAATTCTGCAACTGTGGGTGGTATGTGTGAGATAAAAGGAGAATAAGCCATTTAAAAATGGGCAAAGGTATTGAATAGACATTTCTTCAAAGAAGACATACAAATAGACAATAAGCCCATAAAAAGATTCTTAACACCAATCATCATAAGGGAAATGCAAATCAAACCCACAATGAGATACCCCTGCACATCCATTAGAATGGCGCTTATCAAAAAATAAGTGTTATAGAGGATATGGAGAAATTGGACTTTGGTGCGTTGCTTGTAGCCATGTAAAACAGTGCAGCTGCTGTGAAAAACAGTATGGTGGTCCTTCAAAAGTTAACCACAGATTTACAATATGATCCAGCAATTCAATTCCACTCTGTGTATATATCCAAAAACACTGAAGACAAGAATTTGAACATATACTTGTGCACCGATGTTCATAGCAGCATTATTCACAAAAGCCAAAAGGTAGAAGCAACCCAAGTGTTCATCGGAAGATAAATGGATAAACATAAATATACAATGGAATATTATACAACCGCAGAAAGCATGGAAATTCTGACACATGCCACAACATAGATATACCTTGAAGACATTACACTAAGAAAAATAAGCCAGTCACAAAAGAATAAATATTGTGTGATTTCACTTATATGAGCTACATTGTATCATCAAAATCATAGAGACAGAAAGTAGAATGGTGGTTGTCAGAGGTTAGAGGAAGGAGGGAATGTTTAATGGGTATAGAATTTCAGTCTGGGAAGATGGATGGATGGTGGTAAGGGTAGAATCACAATATGAATTTACTTAATGCCACTGAACTGTTCACCTAAAAATGGTTAAAATGGGCCGGGTGCGGTGGCCTGTAATCCCAGCTTTGGGAGGCCGAGGAGGGCGGATCACCTAAGGTCAGGAGTTCACGACCAGGCTTGGCCAACGTGGTGAAACCCTGTCTCTACTAAAATTACAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCAGCTACTCAGGAGGCTGAGGCAGGAGTATTACTTGAACACGAGAGGCAGACGTTGCAGTGAGCCGAGATTGCGCTATTGCACTCCAGCCTAGATGACAAAGCAAGACTCTGTCTCAAAAAAAAAAAAAAGGTTAAAATGGTGGACTTCATGTTATATATATTTTACCACATTAAAAATAAGGAAAACACACTAGGATATTCTAGTATTCACATAATTGGCATACTTCTGTGCTTCACTTACAATCTCCTCCCTTGAAAAATGCCTCCCGGAAATGTACTTTTTTTACCTAGATCTACAGAAGCTTGGGAATATTTTAGCTTATTCTATAACAATCATTCTACAAATCAGCATTCAGGCCATTCAACATTGCTTGAGTGTCCTCCTGACATGACAGCTAACTTCCCAAAAGCAAGTGATCTAGGGGAGAACCCAAAAAAGAAGCCACAGTTCCTTTTATGACCTAGTCTCAGGAGCCACATACTGTCACTTCTGCCATATTCTACTCAGGAGAAGCAAGTCACGAGACGTAGTGCACTCTCAAATGGAGGAGAATTGGGCTTCACCTGTTGAAGATAGAAGTCTCCAATTGCGAATATCTTCTGAAATTATGGCACTTTCCTCCAAAGGC | TTCAAGGGATTTTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTGGCTAAACTTTGTATTTTTAGTAAAGGTGGGGTTTCACTATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGAGTTCAAGCATGAGCCACTGCATCTGGACAACAGTTTTCATTTTAAAGCTTATTGAGTATACAATTTTACATTTGTTCAGTCTTGAGAGAGACGAGTTGAGTAAGAAAATATCAACATCAACCTTCAAATATACAGTCATGCATCACTTAGTGATGGGGATATGTTCTGAGAAATGTGTTCTTAGGCATTTTCGTCATTGTGTGAACCCATTGTGTGAAGGTACCTACACAAACCTAAATGGCATAGCCAACTACACACCAAGGCTGCAAACCTGAAGAGCATGTTACTTTTCTAAATACCATAGCAATGTAACACAATGGTAAGTATTTTTTTATGTAAACATAAAAAGGGTACAGTAAAAATACCGTATTTATAGTCTATGAGACCTCCGTCATGCATGCAGTTCTACAGGCTGTCGCTATGGAGCGCATGACTGCATTTGAAATTTGCCAGCATTCCATGCCTTAGGAATGATAAGATGCAGCAGCAGTCAGAAGATAAGCCTTTGGGATGGGGGGGTTAACCTTCATTTTAGAACAGCCTAAGTTTCTTGGGTTAAATGGTTTATCTATCATTTTTTTCCACTCATATAGCCAGGGAAAGAGGTAGAAAGGACTCAACAAGAAGTTGACTCCCAAAGTTACTCAAGAGTCAAGTTCCATGATTCTGCACGAAAAATCAAGCCTAAACCCCAGGTGAGAAATCTTGTTTTTTAAAATCATTTGTTTGTTTGTGTTTTTTACAAATATCCAATGACACATGACTACAGGCCGGGTGTGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGACAGGCAGATATATTGAGCACAGGAGTTCAAGACCAGCCTGGACAACATGGCGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCAGACATGGTGGCACACACCTGTGGTCCAAGCTACCTGGGAGGCTGAGATGGGAGGATCACTTGAGCCCATGAGGTCGAAGCTGCAGTGAGCCATGATTGTGCCACTGCATTCCAGCCTGGGTGACAGAGTGAGACCTCATCTCTTAATTAAAAATAAATAAATGACTACATATATAACCTGACTCCTGTTGCCATGCAGTTTGCAAGAAAAAAGTATGAGAAGTGATTCCAACTTTCATACTAACTGGAGAGATCAGAATATTGCCTGACTTGAGGATGAGGGAGTGCATGGAAAGACAGGAAATGTTGGTGATAAGACAGTTTGTTCAGCTCTGAAGTTGCCCCGGCTTTCATTATAGGAAAAAAGGAGAGTACTAACTCCAAAAGAGAAACAACAAAAAAAGGTCATTTGTTTAAAAATTCTATATTTCTCATAATACAACAAAACTATCTCAGCATTGGCCAATAAAACAATAAATCCACTGTTTGTCATTTTAATAATCTTATCTAAAGTGTTTACTGCTATAAATATGTATTTACTTGTTGGAATGTAAATAATTGCTGGGGTTTTTTAAAGTCACTAATTAGAGTTACTATTAAAGGAGGCCTCCAACTGCCTGTGGCAGATATTAAAGTTTATTACCAGTAGTCTCACACCTTTAACTAAGACAATATGCTTCGGAGGCCTGGAATATGCCTGATCTCATTAGCATTAAGCCAGCTGTCAGTTAATTGTGCAGAGCGCATTACAGCTTATAAATGGGAAATTGCGATTGCTCCTTGCTTTTCGTTAGGTTCCACCTGGCTTCCCTTCTGCAGAAGAGGCCTATAACTTCTTTACTTTCAACTTTGATCCCGAACCAGAAGGATCAGAGGAAAAACCAAAAGCAAGACATAGAGCGGGAACTAATCAAGAGGAGGAGGAAGGGGAAGAAGAAGAACCACCTGCACAAGGAGGAGGAAAGGAATGGTATTTAATATCAGGATGGTAATGAGGTGTGGGTGGAGGGCTAGGAGGAAAAAGCTGATGTCCCTGCAAGAAAGAAAGTGGCTGAGGAGAAACCTGCCACCACCAGGAGAATGACACTCCACGTCTGAGTTGAAATCCCAAGTACTGAATTCACATGGCTCCCTGTAGCTCTGGGTTAGACCCTACAATGTGGTAGGAAGAACCTTGATTAAACCTGTTTATTTTTCTTTTGTGGAAAAAAGAATTAAATAATGTGGCTTGAGGGTTTTTCTTGCTAGACTCCACGTAATGATTAGTATTTATTCCATGTGCAAAATATGTTCCTCTGCAAGGCAAATGAAATCTTGGTCTCTCTCTTACCACAACCTTACAAAGTAAGCAGCATTTTGTGCCCAAACACCACACCCAGGCTACAACTCAAATTCTGCAACTGTGGGTGGTATGTGTGAGATAAAAGGAGAATAAGCCATTTAAAAATGGGCAAAGGTATTGAATAGACATTTCTTCAAAGAAGACATACAAATAGACAATAAGCCCATAAAAAGATTCTTAACACCAATCATCATAAGGGAAATGCAAATCAAACCCACAATGAGATACCCCTGCACATCCATTAGAATGGCGCTTATCAAAAAATAAGTGTTATAGAGGATATGGAGAAATTGGACTTTGGTGCGTTGCTTGTAGCCATGTAAAACAGTGCAGCTGCTGTGAAAAACAGTATGGTGGTCCTTCAAAAGTTAACCACAGATTTACAATATGATCCAGCAATTCAATTCCACTCTGTGTATATATCCAAAAACACTGAAGACAAGAATTTGAACATATACTTGTGCACCGATGTTCATAGCAGCATTATTCACAAAAGCCAAAAGGTAGAAGCAACCCAAGTGTTCATCGGAAGATAAATGGATAAACATAAATATACAATGGAATATTATACAACCGCAGAAAGCATGGAAATTCTGACACATGCCACAACATAGATATACCTTGAAGACATTACACTAAGAAAAATAAGCCAGTCACAAAAGAATAAATATTGTGTGATTTCACTTATATGAGCTACATTGTATCATCAAAATCATAGAGACAGAAAGTAGAATGGTGGTTGTCAGAGGTTAGAGGAAGGAGGGAATGTTTAATGGGTATAGAATTTCAGTCTGGGAAGATGGATGGATGGTGGTAAGGGTAGAATCACAATATGAATTTACTTAATGCCACTGAACTGTTCACCTAAAAATGGTTAAAATGGGCCGGGTGCGGTGGCCTGTAATCCCAGCTTTGGGAGGCCGAGGAGGGCGGATCACCTAAGGTCAGGAGTTCACGACCAGGCTTGGCCAACGTGGTGAAACCCTGTCTCTACTAAAATTACAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCAGCTACTCAGGAGGCTGAGGCAGGAGTATTACTTGAACACGAGAGGCAGACGTTGCAGTGAGCCGAGATTGCGCTATTGCACTCCAGCCTAGATGACAAAGCAAGACTCTGTCTCAAAAAAAAAAAAAAGGTTAAAATGGTGGACTTCATGTTATATATATTTTACCACATTAAAAATAAGGAAAACACACTAGGATATTCTAGTATTCACATAATTGGCATACTTCTGTGCTTCACTTACAATCTCCTCCCTTGAAAAATGCCTCCCGGAAATGTACTTTTTTTACCTAGATCTACAGAAGCTTGGGAATATTTTAGCTTATTCTATAACAATCATTCTACAAATCAGCATTCAGGCCATTCAACATTGCTTGAGTGTCCTCCTGACATGACAGCTAACTTCCCAAAAGCAAGTGATCTAGGGGAGAACCCAAAAAAGAAGCCACAGTTCCTTTTATGACCTAGTCTCAGGAGCCACATACTGTCACTTCTGCCATATTCTACTCAGGAGAAGCAAGTCACGAGACGTAGTGCACTCTCAAATGGAGGAGAATTGGGCTTCACCTGTTGAAGATAGAAGTCTCCAATTGCGAATATCTTCTGAAATTATGGCACTTTCCTCCAAAGGCN | pathogenic | 80,507 |
Variant in gene CC2D2A (coiled-coil and C2 domain containing 2A), located at chromosome 4 position 15514821: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['COACH_syndrome_2', 'Joubert_syndrome_9', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | TGAAACCCTGTCTCTACTAAAATTACAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCAGCTACTCAGGAGGCTGAGGCAGGAGTATTACTTGAACACGAGAGGCAGACGTTGCAGTGAGCCGAGATTGCGCTATTGCACTCCAGCCTAGATGACAAAGCAAGACTCTGTCTCAAAAAAAAAAAAAAGGTTAAAATGGTGGACTTCATGTTATATATATTTTACCACATTAAAAATAAGGAAAACACACTAGGATATTCTAGTATTCACATAATTGGCATACTTCTGTGCTTCACTTACAATCTCCTCCCTTGAAAAATGCCTCCCGGAAATGTACTTTTTTTACCTAGATCTACAGAAGCTTGGGAATATTTTAGCTTATTCTATAACAATCATTCTACAAATCAGCATTCAGGCCATTCAACATTGCTTGAGTGTCCTCCTGACATGACAGCTAACTTCCCAAAAGCAAGTGATCTAGGGGAGAACCCAAAAAAGAAGCCACAGTTCCTTTTATGACCTAGTCTCAGGAGCCACATACTGTCACTTCTGCCATATTCTACTCAGGAGAAGCAAGTCACGAGACGTAGTGCACTCTCAAATGGAGGAGAATTGGGCTTCACCTGTTGAAGATAGAAGTCTCCAATTGCGAATATCTTCTGAAATTATGGCACTTTCCTCCAAAGGCCACTTCTCCCTTCCTTTTGCCTATTCACTGCCCCAGAAGCTCTGTTCCTAAAACTGCTCTTTTAAATCACACACATTTGGAAGCCCTTCCCTATAGTCCATGCTCTGCTCTGCCCAGACACTTTTAAAGTATTTTCGTCTTCAAGGTTCATTTAGCCTTTTTGAACAAAGTTTTAGATCCTCTGTAGCCCCTTTCGCTAGCTCCCCTTTTCTGTCTTCTCTGCAGTTTTTCTCTGGGTGATTTTGCTCACCACGAAGCAGAGGTGGGGCAGGAGAAGGAAGATTACACACTGCCATCTGGTGATCTTTCTCTTTTCACTTGTTTGATGTTTTGGCATTCTCTGTCTTCAAGTTAAGTTAAAAGCATGGTTTCTACATAGATTCCCTTTTTCCTTCTTATTCTTTTGTGTACTTGGGGAGGAAATCTTAAGAGGCAGGTAGCTAGACTGCCATCATTGTCTTTAGCTACCTGAAAGTCTCCACAGGATTTTAAAAGATGTTGCTCATAAATGGACACCAGGTTTAAATTTTTAAAAGAAGGAGAAGGAGAAAGAAAAAGAAGAGGAAGGAAGAGAAGACGTTTAGAAAATATCCAAACAAAATCAATATATGTCAGCTAACATTTGTGATTATAGCCTCTTTGCTTTGAATTTTTAAGTGTATCATTTAATTTTATCCCCACAAAGTGCTTAGAGGTAAACTCCATTACTATAACTATCTTATAAGTGAGGAAACTGAGGATCAGAAGGTTAAATAAGCTGTTTCAAGTTCCTCAGGCAGTATATGGTGAAGCTGGGATTTAAACCCAGGCAGTCTGAACAGGGTGTGTGGACTGTGCACCTATACACTTGGTGCCTTTTCCCTTGGTTTAGTGCCAGGTGGAAGGTTAAACTGCTACATAAATTATGAGCCCAATTCTTTACATAAATGGCAAGAAGCAAGCAGTCTCATAGGAGGCCAGATTTGTTGGGATTTTGATTGTTTTGCTTACCACTTCTCTTCTGAAACAGCCATCTCTGATTTTGACATCTTCCAGGTGTGCAGAATACTGCAAAACAATTTTTTTAAAAACCCACTTGTTAAATATGAAAGGTTATATAGTTCTATGCTTTCACTTTTTTAAAAAAAGGAAAAGATAAAGTTGTAGGAAATGTTAAGTTTCATGAGTTTGGTATTGTGAATTATTTTTCTAACTAAGAATCTTAGCATGATTTTTTCTTGTTACTTTTTAACATTATGCAGGATGAGGAAGAACTGCTTAATGGTGATGATGCCGAGGACTTCCTATTGGGCTTAGATCACGTGGCTGACGATTTTGTAGCAGTCAGACCTGCAGATTATGAAAGCATCCATGATCGGCTGCAGATGGAAAGAGAAATGCTCTTCATACCCAGTAGGCAGACAGGTACTTGCTCTTTTTATTTTCTTGTTCAGCTTAGACATCGTCACTTACCTTGTCATGAAATATGGCTAGTGTATAAGGATGCCTCATCTCCAGAACTGATTCCAGTTTCTAATCTAACAATCAAGAAATATCTTCAAACAAACAAAAAAAACACAACATGGAAAAATATCCATTCAACAAACACTTATTGATAGACTAATGGAAGATATACCAGAGTACTGTGGGAACCCTTTATCAAATCAGTGATCCATTACAGGGGCTTAGAGTTTATGAGAACAGCCTTTCTTTCTTCTTAAGTTTATCCCCAACCTTCCCTAAGTCACCATCTCCTGTGTATTTTCTTACTACTCTATGGCGTGATCTTGTAGAGACCTTTGCTTCCTGTTGCTGCCTATCACTCCCACTATGATTCAAGCTCCAAGGCAGCAGGGGCCTGGCCTGGATTCCCAGAGTCTCATCTGTGCCTGGCACAAGGAGGCTCTCAGTAAAGATGTGTTCTAGGAATGAATAAAGCCGTGAATGAATAAATGAGGTAATGATCACGTTCAATCAAATAAACTTGTTCATTTACAAAGCACGTCCTCATACTTTACCTCATTTAATTCTCCCAGAAGCCCAGTTAAGTAGATTAGTATCTCTTTTGTACAGGAGGAGAGAGTTCAAAGAAGTGCCTGGCCCTAATTCACCCAGCTGAAGAGTAATAGAACTAAAACTTGTCTCTCATCCTATGATTTGAATACTACCTTCTTCTCAGTATGCCACACTGATGAGTTACATATTAAATTTTTAGGCGTTTTCTTTAAATACCTGATTCTACAACATACTGCTACAAGTGAGCACATTCATCTTTTCCTTGGTTCTGCTTTTAAAAATTAATTTGGAAAATTTGCATTTTCTAAGAACATAAATGAAATCTCTGGTGATTAATTCACCAAACTGCAGTTTGAGATATTTAGATTGGCCCTAATGTTTATTTTATTTATTTATAAACGATCTAGTCCCTACATATAAAAAGCTTCCTGAGAATGTACAGCCCAGGTTCCTGGAAGATGAAGGCCTTTACACCGGGGTAAGACCAGAGGTGGCACGCACCAATCAGAACATCATGGAGAACAGATTGCTGATGCAGGACCCCGTAAGTGTGCACCCTCTGCTCTCAGGTGTAGCCTGGGCACACTAGACATAGCTTTTATTTTCCTAACAGGGCAGTCATTGCATCCACTGTACTCATTTCCTCTTGAGGTTATCCACAGAAAGTGGTTCATTTTTTTTTTTTTAACTTTCTCTCTCAGTACATTTATTGATCCTCAAATAACATAACTTCTCAACTGCTCAAAACCCATCTTTGCTAGCTAGATCTGGGCTTTTCCTGCTAAACCAGATCCTGGCAACATTTTCCTACTTGACAGAATTTTTAAATTATCCATAGGTAGAATAGTTTCACTTTTGAGTTTTTATTCTGTGTTTTTTTTTCTTAAATGTTTAATTAATAGAAGATAAATTTTTCTTAAGCACTCATTTAAGCTCTTTAAAATACTTTTTAGGAAGCCAGGGTGTATATTTTAAATCAATTGTGAGAAGTGTTAGTGAAGACTTGATTTCTAATGGAAACAGAACTTTTACAGTTCTGTTGGGGGAGGAAGTACATGAAATATATATGTTGACACAGAATTTTCAAGAAATGTTGTTTGTGTTGTGAACCATTTTCTGTTCGATTAGAAGAAAATGTTGCCATTCCCTCTGCTTCATCTACAGGAAAGAAGATGGTTTGGAGATGACGGCAGGATCCTAGCTCTGCCAAACCCCATCAAGCCATTTCCTTCAAGGCCGCCAGTACTAACACAGGAGCAGAGCATTAAGGCAGAGCTTGAAACACTGTATAAAAAGGTAGACACTCCCCTCTCTCCACTTTTATTAAATGAAATTGAAAGTGCTTTGCTTTCTGAATAGCTTGGGGTGCTATATTTATAACATTCTACTTTAATTTTTTAAATAATTC | TGAAACCCTGTCTCTACTAAAATTACAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCAGCTACTCAGGAGGCTGAGGCAGGAGTATTACTTGAACACGAGAGGCAGACGTTGCAGTGAGCCGAGATTGCGCTATTGCACTCCAGCCTAGATGACAAAGCAAGACTCTGTCTCAAAAAAAAAAAAAAGGTTAAAATGGTGGACTTCATGTTATATATATTTTACCACATTAAAAATAAGGAAAACACACTAGGATATTCTAGTATTCACATAATTGGCATACTTCTGTGCTTCACTTACAATCTCCTCCCTTGAAAAATGCCTCCCGGAAATGTACTTTTTTTACCTAGATCTACAGAAGCTTGGGAATATTTTAGCTTATTCTATAACAATCATTCTACAAATCAGCATTCAGGCCATTCAACATTGCTTGAGTGTCCTCCTGACATGACAGCTAACTTCCCAAAAGCAAGTGATCTAGGGGAGAACCCAAAAAAGAAGCCACAGTTCCTTTTATGACCTAGTCTCAGGAGCCACATACTGTCACTTCTGCCATATTCTACTCAGGAGAAGCAAGTCACGAGACGTAGTGCACTCTCAAATGGAGGAGAATTGGGCTTCACCTGTTGAAGATAGAAGTCTCCAATTGCGAATATCTTCTGAAATTATGGCACTTTCCTCCAAAGGCCACTTCTCCCTTCCTTTTGCCTATTCACTGCCCCAGAAGCTCTGTTCCTAAAACTGCTCTTTTAAATCACACACATTTGGAAGCCCTTCCCTATAGTCCATGCTCTGCTCTGCCCAGACACTTTTAAAGTATTTTCGTCTTCAAGGTTCATTTAGCCTTTTTGAACAAAGTTTTAGATCCTCTGTAGCCCCTTTCGCTAGCTCCCCTTTTCTGTCTTCTCTGCAGTTTTTCTCTGGGTGATTTTGCTCACCACGAAGCAGAGGTGGGGCAGGAGAAGGAAGATTACACACTGCCATCTGGTGATCTTTCTCTTTTCACTTGTTTGATGTTTTGGCATTCTCTGTCTTCAAGTTAAGTTAAAAGCATGGTTTCTACATAGATTCCCTTTTTCCTTCTTATTCTTTTGTGTACTTGGGGAGGAAATCTTAAGAGGCAGGTAGCTAGACTGCCATCATTGTCTTTAGCTACCTGAAAGTCTCCACAGGATTTTAAAAGATGTTGCTCATAAATGGACACCAGGTTTAAATTTTTAAAAGAAGGAGAAGGAGAAAGAAAAAGAAGAGGAAGGAAGAGAAGACGTTTAGAAAATATCCAAACAAAATCAATATATGTCAGCTAACATTTGTGATTATAGCCTCTTTGCTTTGAATTTTTAAGTGTATCATTTAATTTTATCCCCACAAAGTGCTTAGAGGTAAACTCCATTACTATAACTATCTTATAAGTGAGGAAACTGAGGATCAGAAGGTTAAATAAGCTGTTTCAAGTTCCTCAGGCAGTATATGGTGAAGCTGGGATTTAAACCCAGGCAGTCTGAACAGGGTGTGTGGACTGTGCACCTATACACTTGGTGCCTTTTCCCTTGGTTTAGTGCCAGGTGGAAGGTTAAACTGCTACATAAATTATGAGCCCAATTCTTTACATAAATGGCAAGAAGCAAGCAGTCTCATAGGAGGCCAGATTTGTTGGGATTTTGATTGTTTTGCTTACCACTTCTCTTCTGAAACAGCCATCTCTGATTTTGACATCTTCCAGGTGTGCAGAATACTGCAAAACAATTTTTTTAAAAACCCACTTGTTAAATATGAAAGGTTATATAGTTCTATGCTTTCACTTTTTTAAAAAAAGGAAAAGATAAAGTTGTAGGAAATGTTAAGTTTCATGAGTTTGGTATTGTGAATTATTTTTCTAACTAAGAATCTTAGCATGATTTTTTCTTGTTACTTTTTAACATTATGCAGGATGAGGAAGAACTGCTTAATGGTGATGATGCCGAGGACTTCCTATTGGGCTTAGATCACGTGGCTGACGATTTTGTAGCAGTCAGACCTGCAGATTATGAAAGCATCCATGATCGCTGCAGATGGAAAGAGAAATGCTCTTCATACCCAGTAGGCAGACAGGTACTTGCTCTTTTTATTTTCTTGTTCAGCTTAGACATCGTCACTTACCTTGTCATGAAATATGGCTAGTGTATAAGGATGCCTCATCTCCAGAACTGATTCCAGTTTCTAATCTAACAATCAAGAAATATCTTCAAACAAACAAAAAAAACACAACATGGAAAAATATCCATTCAACAAACACTTATTGATAGACTAATGGAAGATATACCAGAGTACTGTGGGAACCCTTTATCAAATCAGTGATCCATTACAGGGGCTTAGAGTTTATGAGAACAGCCTTTCTTTCTTCTTAAGTTTATCCCCAACCTTCCCTAAGTCACCATCTCCTGTGTATTTTCTTACTACTCTATGGCGTGATCTTGTAGAGACCTTTGCTTCCTGTTGCTGCCTATCACTCCCACTATGATTCAAGCTCCAAGGCAGCAGGGGCCTGGCCTGGATTCCCAGAGTCTCATCTGTGCCTGGCACAAGGAGGCTCTCAGTAAAGATGTGTTCTAGGAATGAATAAAGCCGTGAATGAATAAATGAGGTAATGATCACGTTCAATCAAATAAACTTGTTCATTTACAAAGCACGTCCTCATACTTTACCTCATTTAATTCTCCCAGAAGCCCAGTTAAGTAGATTAGTATCTCTTTTGTACAGGAGGAGAGAGTTCAAAGAAGTGCCTGGCCCTAATTCACCCAGCTGAAGAGTAATAGAACTAAAACTTGTCTCTCATCCTATGATTTGAATACTACCTTCTTCTCAGTATGCCACACTGATGAGTTACATATTAAATTTTTAGGCGTTTTCTTTAAATACCTGATTCTACAACATACTGCTACAAGTGAGCACATTCATCTTTTCCTTGGTTCTGCTTTTAAAAATTAATTTGGAAAATTTGCATTTTCTAAGAACATAAATGAAATCTCTGGTGATTAATTCACCAAACTGCAGTTTGAGATATTTAGATTGGCCCTAATGTTTATTTTATTTATTTATAAACGATCTAGTCCCTACATATAAAAAGCTTCCTGAGAATGTACAGCCCAGGTTCCTGGAAGATGAAGGCCTTTACACCGGGGTAAGACCAGAGGTGGCACGCACCAATCAGAACATCATGGAGAACAGATTGCTGATGCAGGACCCCGTAAGTGTGCACCCTCTGCTCTCAGGTGTAGCCTGGGCACACTAGACATAGCTTTTATTTTCCTAACAGGGCAGTCATTGCATCCACTGTACTCATTTCCTCTTGAGGTTATCCACAGAAAGTGGTTCATTTTTTTTTTTTTAACTTTCTCTCTCAGTACATTTATTGATCCTCAAATAACATAACTTCTCAACTGCTCAAAACCCATCTTTGCTAGCTAGATCTGGGCTTTTCCTGCTAAACCAGATCCTGGCAACATTTTCCTACTTGACAGAATTTTTAAATTATCCATAGGTAGAATAGTTTCACTTTTGAGTTTTTATTCTGTGTTTTTTTTTCTTAAATGTTTAATTAATAGAAGATAAATTTTTCTTAAGCACTCATTTAAGCTCTTTAAAATACTTTTTAGGAAGCCAGGGTGTATATTTTAAATCAATTGTGAGAAGTGTTAGTGAAGACTTGATTTCTAATGGAAACAGAACTTTTACAGTTCTGTTGGGGGAGGAAGTACATGAAATATATATGTTGACACAGAATTTTCAAGAAATGTTGTTTGTGTTGTGAACCATTTTCTGTTCGATTAGAAGAAAATGTTGCCATTCCCTCTGCTTCATCTACAGGAAAGAAGATGGTTTGGAGATGACGGCAGGATCCTAGCTCTGCCAAACCCCATCAAGCCATTTCCTTCAAGGCCGCCAGTACTAACACAGGAGCAGAGCATTAAGGCAGAGCTTGAAACACTGTATAAAAAGGTAGACACTCCCCTCTCTCCACTTTTATTAAATGAAATTGAAAGTGCTTTGCTTTCTGAATAGCTTGGGGTGCTATATTTATAACATTCTACTTTAATTTTTTAAATAATTCN | pathogenic | 80,513 |
Classify the chromosome 4 variant at position 15514827 affecting gene CC2D2A (coiled-coil and C2 domain containing 2A) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['COACH_syndrome_2', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | CCTGTCTCTACTAAAATTACAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCAGCTACTCAGGAGGCTGAGGCAGGAGTATTACTTGAACACGAGAGGCAGACGTTGCAGTGAGCCGAGATTGCGCTATTGCACTCCAGCCTAGATGACAAAGCAAGACTCTGTCTCAAAAAAAAAAAAAAGGTTAAAATGGTGGACTTCATGTTATATATATTTTACCACATTAAAAATAAGGAAAACACACTAGGATATTCTAGTATTCACATAATTGGCATACTTCTGTGCTTCACTTACAATCTCCTCCCTTGAAAAATGCCTCCCGGAAATGTACTTTTTTTACCTAGATCTACAGAAGCTTGGGAATATTTTAGCTTATTCTATAACAATCATTCTACAAATCAGCATTCAGGCCATTCAACATTGCTTGAGTGTCCTCCTGACATGACAGCTAACTTCCCAAAAGCAAGTGATCTAGGGGAGAACCCAAAAAAGAAGCCACAGTTCCTTTTATGACCTAGTCTCAGGAGCCACATACTGTCACTTCTGCCATATTCTACTCAGGAGAAGCAAGTCACGAGACGTAGTGCACTCTCAAATGGAGGAGAATTGGGCTTCACCTGTTGAAGATAGAAGTCTCCAATTGCGAATATCTTCTGAAATTATGGCACTTTCCTCCAAAGGCCACTTCTCCCTTCCTTTTGCCTATTCACTGCCCCAGAAGCTCTGTTCCTAAAACTGCTCTTTTAAATCACACACATTTGGAAGCCCTTCCCTATAGTCCATGCTCTGCTCTGCCCAGACACTTTTAAAGTATTTTCGTCTTCAAGGTTCATTTAGCCTTTTTGAACAAAGTTTTAGATCCTCTGTAGCCCCTTTCGCTAGCTCCCCTTTTCTGTCTTCTCTGCAGTTTTTCTCTGGGTGATTTTGCTCACCACGAAGCAGAGGTGGGGCAGGAGAAGGAAGATTACACACTGCCATCTGGTGATCTTTCTCTTTTCACTTGTTTGATGTTTTGGCATTCTCTGTCTTCAAGTTAAGTTAAAAGCATGGTTTCTACATAGATTCCCTTTTTCCTTCTTATTCTTTTGTGTACTTGGGGAGGAAATCTTAAGAGGCAGGTAGCTAGACTGCCATCATTGTCTTTAGCTACCTGAAAGTCTCCACAGGATTTTAAAAGATGTTGCTCATAAATGGACACCAGGTTTAAATTTTTAAAAGAAGGAGAAGGAGAAAGAAAAAGAAGAGGAAGGAAGAGAAGACGTTTAGAAAATATCCAAACAAAATCAATATATGTCAGCTAACATTTGTGATTATAGCCTCTTTGCTTTGAATTTTTAAGTGTATCATTTAATTTTATCCCCACAAAGTGCTTAGAGGTAAACTCCATTACTATAACTATCTTATAAGTGAGGAAACTGAGGATCAGAAGGTTAAATAAGCTGTTTCAAGTTCCTCAGGCAGTATATGGTGAAGCTGGGATTTAAACCCAGGCAGTCTGAACAGGGTGTGTGGACTGTGCACCTATACACTTGGTGCCTTTTCCCTTGGTTTAGTGCCAGGTGGAAGGTTAAACTGCTACATAAATTATGAGCCCAATTCTTTACATAAATGGCAAGAAGCAAGCAGTCTCATAGGAGGCCAGATTTGTTGGGATTTTGATTGTTTTGCTTACCACTTCTCTTCTGAAACAGCCATCTCTGATTTTGACATCTTCCAGGTGTGCAGAATACTGCAAAACAATTTTTTTAAAAACCCACTTGTTAAATATGAAAGGTTATATAGTTCTATGCTTTCACTTTTTTAAAAAAAGGAAAAGATAAAGTTGTAGGAAATGTTAAGTTTCATGAGTTTGGTATTGTGAATTATTTTTCTAACTAAGAATCTTAGCATGATTTTTTCTTGTTACTTTTTAACATTATGCAGGATGAGGAAGAACTGCTTAATGGTGATGATGCCGAGGACTTCCTATTGGGCTTAGATCACGTGGCTGACGATTTTGTAGCAGTCAGACCTGCAGATTATGAAAGCATCCATGATCGGCTGCAGATGGAAAGAGAAATGCTCTTCATACCCAGTAGGCAGACAGGTACTTGCTCTTTTTATTTTCTTGTTCAGCTTAGACATCGTCACTTACCTTGTCATGAAATATGGCTAGTGTATAAGGATGCCTCATCTCCAGAACTGATTCCAGTTTCTAATCTAACAATCAAGAAATATCTTCAAACAAACAAAAAAAACACAACATGGAAAAATATCCATTCAACAAACACTTATTGATAGACTAATGGAAGATATACCAGAGTACTGTGGGAACCCTTTATCAAATCAGTGATCCATTACAGGGGCTTAGAGTTTATGAGAACAGCCTTTCTTTCTTCTTAAGTTTATCCCCAACCTTCCCTAAGTCACCATCTCCTGTGTATTTTCTTACTACTCTATGGCGTGATCTTGTAGAGACCTTTGCTTCCTGTTGCTGCCTATCACTCCCACTATGATTCAAGCTCCAAGGCAGCAGGGGCCTGGCCTGGATTCCCAGAGTCTCATCTGTGCCTGGCACAAGGAGGCTCTCAGTAAAGATGTGTTCTAGGAATGAATAAAGCCGTGAATGAATAAATGAGGTAATGATCACGTTCAATCAAATAAACTTGTTCATTTACAAAGCACGTCCTCATACTTTACCTCATTTAATTCTCCCAGAAGCCCAGTTAAGTAGATTAGTATCTCTTTTGTACAGGAGGAGAGAGTTCAAAGAAGTGCCTGGCCCTAATTCACCCAGCTGAAGAGTAATAGAACTAAAACTTGTCTCTCATCCTATGATTTGAATACTACCTTCTTCTCAGTATGCCACACTGATGAGTTACATATTAAATTTTTAGGCGTTTTCTTTAAATACCTGATTCTACAACATACTGCTACAAGTGAGCACATTCATCTTTTCCTTGGTTCTGCTTTTAAAAATTAATTTGGAAAATTTGCATTTTCTAAGAACATAAATGAAATCTCTGGTGATTAATTCACCAAACTGCAGTTTGAGATATTTAGATTGGCCCTAATGTTTATTTTATTTATTTATAAACGATCTAGTCCCTACATATAAAAAGCTTCCTGAGAATGTACAGCCCAGGTTCCTGGAAGATGAAGGCCTTTACACCGGGGTAAGACCAGAGGTGGCACGCACCAATCAGAACATCATGGAGAACAGATTGCTGATGCAGGACCCCGTAAGTGTGCACCCTCTGCTCTCAGGTGTAGCCTGGGCACACTAGACATAGCTTTTATTTTCCTAACAGGGCAGTCATTGCATCCACTGTACTCATTTCCTCTTGAGGTTATCCACAGAAAGTGGTTCATTTTTTTTTTTTTAACTTTCTCTCTCAGTACATTTATTGATCCTCAAATAACATAACTTCTCAACTGCTCAAAACCCATCTTTGCTAGCTAGATCTGGGCTTTTCCTGCTAAACCAGATCCTGGCAACATTTTCCTACTTGACAGAATTTTTAAATTATCCATAGGTAGAATAGTTTCACTTTTGAGTTTTTATTCTGTGTTTTTTTTTCTTAAATGTTTAATTAATAGAAGATAAATTTTTCTTAAGCACTCATTTAAGCTCTTTAAAATACTTTTTAGGAAGCCAGGGTGTATATTTTAAATCAATTGTGAGAAGTGTTAGTGAAGACTTGATTTCTAATGGAAACAGAACTTTTACAGTTCTGTTGGGGGAGGAAGTACATGAAATATATATGTTGACACAGAATTTTCAAGAAATGTTGTTTGTGTTGTGAACCATTTTCTGTTCGATTAGAAGAAAATGTTGCCATTCCCTCTGCTTCATCTACAGGAAAGAAGATGGTTTGGAGATGACGGCAGGATCCTAGCTCTGCCAAACCCCATCAAGCCATTTCCTTCAAGGCCGCCAGTACTAACACAGGAGCAGAGCATTAAGGCAGAGCTTGAAACACTGTATAAAAAGGTAGACACTCCCCTCTCTCCACTTTTATTAAATGAAATTGAAAGTGCTTTGCTTTCTGAATAGCTTGGGGTGCTATATTTATAACATTCTACTTTAATTTTTTAAATAATTCACTATC | CCTGTCTCTACTAAAATTACAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCAGCTACTCAGGAGGCTGAGGCAGGAGTATTACTTGAACACGAGAGGCAGACGTTGCAGTGAGCCGAGATTGCGCTATTGCACTCCAGCCTAGATGACAAAGCAAGACTCTGTCTCAAAAAAAAAAAAAAGGTTAAAATGGTGGACTTCATGTTATATATATTTTACCACATTAAAAATAAGGAAAACACACTAGGATATTCTAGTATTCACATAATTGGCATACTTCTGTGCTTCACTTACAATCTCCTCCCTTGAAAAATGCCTCCCGGAAATGTACTTTTTTTACCTAGATCTACAGAAGCTTGGGAATATTTTAGCTTATTCTATAACAATCATTCTACAAATCAGCATTCAGGCCATTCAACATTGCTTGAGTGTCCTCCTGACATGACAGCTAACTTCCCAAAAGCAAGTGATCTAGGGGAGAACCCAAAAAAGAAGCCACAGTTCCTTTTATGACCTAGTCTCAGGAGCCACATACTGTCACTTCTGCCATATTCTACTCAGGAGAAGCAAGTCACGAGACGTAGTGCACTCTCAAATGGAGGAGAATTGGGCTTCACCTGTTGAAGATAGAAGTCTCCAATTGCGAATATCTTCTGAAATTATGGCACTTTCCTCCAAAGGCCACTTCTCCCTTCCTTTTGCCTATTCACTGCCCCAGAAGCTCTGTTCCTAAAACTGCTCTTTTAAATCACACACATTTGGAAGCCCTTCCCTATAGTCCATGCTCTGCTCTGCCCAGACACTTTTAAAGTATTTTCGTCTTCAAGGTTCATTTAGCCTTTTTGAACAAAGTTTTAGATCCTCTGTAGCCCCTTTCGCTAGCTCCCCTTTTCTGTCTTCTCTGCAGTTTTTCTCTGGGTGATTTTGCTCACCACGAAGCAGAGGTGGGGCAGGAGAAGGAAGATTACACACTGCCATCTGGTGATCTTTCTCTTTTCACTTGTTTGATGTTTTGGCATTCTCTGTCTTCAAGTTAAGTTAAAAGCATGGTTTCTACATAGATTCCCTTTTTCCTTCTTATTCTTTTGTGTACTTGGGGAGGAAATCTTAAGAGGCAGGTAGCTAGACTGCCATCATTGTCTTTAGCTACCTGAAAGTCTCCACAGGATTTTAAAAGATGTTGCTCATAAATGGACACCAGGTTTAAATTTTTAAAAGAAGGAGAAGGAGAAAGAAAAAGAAGAGGAAGGAAGAGAAGACGTTTAGAAAATATCCAAACAAAATCAATATATGTCAGCTAACATTTGTGATTATAGCCTCTTTGCTTTGAATTTTTAAGTGTATCATTTAATTTTATCCCCACAAAGTGCTTAGAGGTAAACTCCATTACTATAACTATCTTATAAGTGAGGAAACTGAGGATCAGAAGGTTAAATAAGCTGTTTCAAGTTCCTCAGGCAGTATATGGTGAAGCTGGGATTTAAACCCAGGCAGTCTGAACAGGGTGTGTGGACTGTGCACCTATACACTTGGTGCCTTTTCCCTTGGTTTAGTGCCAGGTGGAAGGTTAAACTGCTACATAAATTATGAGCCCAATTCTTTACATAAATGGCAAGAAGCAAGCAGTCTCATAGGAGGCCAGATTTGTTGGGATTTTGATTGTTTTGCTTACCACTTCTCTTCTGAAACAGCCATCTCTGATTTTGACATCTTCCAGGTGTGCAGAATACTGCAAAACAATTTTTTTAAAAACCCACTTGTTAAATATGAAAGGTTATATAGTTCTATGCTTTCACTTTTTTAAAAAAAGGAAAAGATAAAGTTGTAGGAAATGTTAAGTTTCATGAGTTTGGTATTGTGAATTATTTTTCTAACTAAGAATCTTAGCATGATTTTTTCTTGTTACTTTTTAACATTATGCAGGATGAGGAAGAACTGCTTAATGGTGATGATGCCGAGGACTTCCTATTGGGCTTAGATCACGTGGCTGACGATTTTGTAGCAGTCAGACCTGCAGATTATGAAAGCATCCATGATCGGCTGCGATGGAAAGAGAAATGCTCTTCATACCCAGTAGGCAGACAGGTACTTGCTCTTTTTATTTTCTTGTTCAGCTTAGACATCGTCACTTACCTTGTCATGAAATATGGCTAGTGTATAAGGATGCCTCATCTCCAGAACTGATTCCAGTTTCTAATCTAACAATCAAGAAATATCTTCAAACAAACAAAAAAAACACAACATGGAAAAATATCCATTCAACAAACACTTATTGATAGACTAATGGAAGATATACCAGAGTACTGTGGGAACCCTTTATCAAATCAGTGATCCATTACAGGGGCTTAGAGTTTATGAGAACAGCCTTTCTTTCTTCTTAAGTTTATCCCCAACCTTCCCTAAGTCACCATCTCCTGTGTATTTTCTTACTACTCTATGGCGTGATCTTGTAGAGACCTTTGCTTCCTGTTGCTGCCTATCACTCCCACTATGATTCAAGCTCCAAGGCAGCAGGGGCCTGGCCTGGATTCCCAGAGTCTCATCTGTGCCTGGCACAAGGAGGCTCTCAGTAAAGATGTGTTCTAGGAATGAATAAAGCCGTGAATGAATAAATGAGGTAATGATCACGTTCAATCAAATAAACTTGTTCATTTACAAAGCACGTCCTCATACTTTACCTCATTTAATTCTCCCAGAAGCCCAGTTAAGTAGATTAGTATCTCTTTTGTACAGGAGGAGAGAGTTCAAAGAAGTGCCTGGCCCTAATTCACCCAGCTGAAGAGTAATAGAACTAAAACTTGTCTCTCATCCTATGATTTGAATACTACCTTCTTCTCAGTATGCCACACTGATGAGTTACATATTAAATTTTTAGGCGTTTTCTTTAAATACCTGATTCTACAACATACTGCTACAAGTGAGCACATTCATCTTTTCCTTGGTTCTGCTTTTAAAAATTAATTTGGAAAATTTGCATTTTCTAAGAACATAAATGAAATCTCTGGTGATTAATTCACCAAACTGCAGTTTGAGATATTTAGATTGGCCCTAATGTTTATTTTATTTATTTATAAACGATCTAGTCCCTACATATAAAAAGCTTCCTGAGAATGTACAGCCCAGGTTCCTGGAAGATGAAGGCCTTTACACCGGGGTAAGACCAGAGGTGGCACGCACCAATCAGAACATCATGGAGAACAGATTGCTGATGCAGGACCCCGTAAGTGTGCACCCTCTGCTCTCAGGTGTAGCCTGGGCACACTAGACATAGCTTTTATTTTCCTAACAGGGCAGTCATTGCATCCACTGTACTCATTTCCTCTTGAGGTTATCCACAGAAAGTGGTTCATTTTTTTTTTTTTAACTTTCTCTCTCAGTACATTTATTGATCCTCAAATAACATAACTTCTCAACTGCTCAAAACCCATCTTTGCTAGCTAGATCTGGGCTTTTCCTGCTAAACCAGATCCTGGCAACATTTTCCTACTTGACAGAATTTTTAAATTATCCATAGGTAGAATAGTTTCACTTTTGAGTTTTTATTCTGTGTTTTTTTTTCTTAAATGTTTAATTAATAGAAGATAAATTTTTCTTAAGCACTCATTTAAGCTCTTTAAAATACTTTTTAGGAAGCCAGGGTGTATATTTTAAATCAATTGTGAGAAGTGTTAGTGAAGACTTGATTTCTAATGGAAACAGAACTTTTACAGTTCTGTTGGGGGAGGAAGTACATGAAATATATATGTTGACACAGAATTTTCAAGAAATGTTGTTTGTGTTGTGAACCATTTTCTGTTCGATTAGAAGAAAATGTTGCCATTCCCTCTGCTTCATCTACAGGAAAGAAGATGGTTTGGAGATGACGGCAGGATCCTAGCTCTGCCAAACCCCATCAAGCCATTTCCTTCAAGGCCGCCAGTACTAACACAGGAGCAGAGCATTAAGGCAGAGCTTGAAACACTGTATAAAAAGGTAGACACTCCCCTCTCTCCACTTTTATTAAATGAAATTGAAAGTGCTTTGCTTTCTGAATAGCTTGGGGTGCTATATTTATAACATTCTACTTTAATTTTTTAAATAATTCACTATCN | pathogenic | 80,514 |
Clinical significance of chromosome 4, position 15527594, gene CC2D2A (coiled-coil and C2 domain containing 2A): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['COACH_syndrome_2', 'Joubert_syndrome_9', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | GTTGCAGTCTGAAGTGTAGGGATATTAATGACCAGATCTGATCTCTGAAAGGCCACCCAGGGCTTTCATAAGATACAAAAGACCAGTGGAAGCTGATCCATGTCCCAGTGGTTTTTCCTTCTATAAATCCAAGTGAAGATTCTTGGAAGAAATTGTTGTTACTGTGTTCATAATAGTTCTCGATATATAAGAAAGGGAACAGATACAACAAAGAGAAAAGGAACTAGAGGTCTTTCTCTCTAATAGTATGGGAGTTGTGGTCTTTTGGGCAGTCTAGCCCAGTGGCTGCAAGGAGTCCTGGAAGCTTTTTATACTTGGTTGGGCTAAGCAAAAAGCAGAGACCACCAGCAATTATTGGAATGTGGGGTAATGCAGATTTGGGAAATACAGCATATTCCAGAAAGTACTGCAATATAGTCAATTCATCCTGATTTGAGCCTAAAATATTTGTAAGCACATTCCAGTTTTCAAGGGCATTTTTAAAATAAAACAATCTGTTCAAAACTTATAATCATAGGACTCTAATGCTGGAATCCCCTCTTCTGGGCTGGGCTTCCTACCTCCCTCTGCACATCCCAGACTTCATGCTTTTAGATCCTAGGGCTGTCTTCCCTTCTAAATTGATTGCTGCTTGAAGACAGGCTGTATCACACTGTAGACATCCATTAATCTTTGTTGAGTAAATGAGATGATGCGTGTGAAATGCCTGATATGATACCTAGTGATCTACGAAATGCTAATTTAATCTTTTTCCTTAGCCTCCTATTTCTACACATGAAAAATTAGAGGCCCAGAGATGTATAGTGACTTGCCCAAGGTCTCAGAGCAAGTTCAAGGTAGAGCCAGGCCTAGAATCCAAGTCTCCTAGCCCAGATCTAGCATGTTTACATAACACCATGCAAAAGAATTAAATGAAGAGTTTGCTGAACATGTTACCCATAATTTAGGGAGAATAAAAGCTTCTTTTCTGATTAGAATTTTTACACTTTTCCTTTAAGCTCATGATTTGTAAATAATTCACTTATGCCACATTATCATTATCATACATTATCATTTTCTAGATAAATAGCTCATCTCTGCAAAAAGGAAGGATCAAGTGATGTCTCAACCACCATATCCTTACTATAGTCAGTCTTTATAATGAGAAAAAATAAAGGCACAAAATCAAAGATGTCTCCTCTCCACCCTTGAGCTCCCACCCACAGTAGCTGTAGTAATCAAAGTAAATATCTTGAGGATTTTAAGGAAGAAAAGCAAAGAGATGTATCTGATACATTATATACCAAACGATCCAAGACATTCCTATTGGAGACTTCTGTTTCTGTTTTCTACACACTTGGCTCAGCTGCACAGCCCCCACTCTTATTTTGCAAACCAACATCCCTCCTCCCCATGAAGACTGAGTGCCAGCATGATGCTCAGTTAGGTAGATGTCCCTTGCTGCTATCTACAAAATGAAGCCTTCTCCACATGTTTTAAAATGTAAATACATGGGGTATGTCCAGGATCCAAATAATGATCGGTTTGAACTAGAATCTATGCTCCTCCCAGTAAAAGAATTTCAAGGTCACCAGCTACAAAACCCAAGATTCCAAGAAACAAGGTAGTCTGCATGAAAAAGATTAGAACTACAACTTAGGCAAGTAATGAAACCTAAAAGACTTAGGAAAGCAAGATTGAAATGGTTTCTTTTCTAACTCCCAGTCTTTCATTTTGCTGTTCAAATATTCAAAAAAGAGCTGGCCTCTAAAACCTGGAAATAAGTAATCAAGCATTTTTCACCTGACTAGTCCAGGATAGGAGGTATTTTGCATCTGACCGTTTTCCCATTGTGGATTAGAGAATCATTATCTAGTAAGTGCTTTAACTGTGTTCTGTCTACACTCTGCTTTCCTTGGCAGGCTGTAAAATACGTTCACAGTAGTCAGCATGTGATCAGATCTGGAGACCCTCCTGGAAATTTCCAACTGGACATTGATATTTCAGGGTTAATCTTCACTCATCATCCCTGTTTTAGCCGAGAGCATGTTTTGGCAGCCAAGCTGGCCCAGTTATATGACCAGTACCTTGCAAGACACCAGAGAAACAAGGCGAAATTTCTTACTGATAAGGTACATGTGATTTCTTCCATAATGATTGTCAATGGAGTTGGTTCTTCCAATGAGCCCAAACAATGAAAATTTCTAACAGCAAAATGTTCATGCCCCTCTTTCACATGTTTCCTCGGTTTAGGATGTGTGATACATTATCCAGCTAGAGACAAAAGGGAAAGATAGAGTTGGTATACATGTGATGTGTACAAATTTATTGGCACACACTCGCCCTAAACAGAAGACTTTCTGTAAACAGTACAGCACCCACCAGAAGTGGGTGTTAGGTGGAAGATATGTGGCTATTACTTGCTTCCGTGATCTCAGAACCTGAGAAAATTGGTGGCTTGAGAATATCTGTCCTTAGAAACATTCTCATCTTGATATTTATTACCCCATCGTGTAGCACTTAAACACAAGTCAGTGTTTCAACTGATGCTCAAAGGAATGGCTAAGCATTTGGATTTATTCCCAATGTGACACTATCCCATGGGATTTTTGTGGGTAATTTTGACTATAGGCAATTTTGGTCTCACGCCCTGACTTTAAAACCTTACTGCCCAAAGAAGAGATAACTTCACAATATCTCGTTTTACGAGTCTGTAATTTTATAGTTTCTTTATATCACAAGAATACCATCATATGTCCTGGACCCAGACAAACATGCTTTTAGCTTTGGAAGAAAACTTGGTTCTAAGATATACACATAAAAGTAATATTTTCATAAGCAGCTTGATTTTCTGGGCCATGGAACAAGGATGGACATACACTATGCTTTACTAATCCAGTTTCTTCAAGAACAGATGAAACAGTTCTCCATCATAATTCATTTATGTGAAAGTCTGGAGACAGCCAGATGCTTGAACATCCGTTCCATTCACAGACTGATGGCACCATTTTGCCCAGGAGAAGTGGGTGGGTCCAGTTGCACTGCAGTAGGGAATAGAGTTTGTAACCCAAAACTTGTATCCATGTCGTTTTAAGCTCCAAGCTTTAAGAAATGCTGTTCAGACTGGCCTTGATCCAGAAAAACCTCATCAGTCTCTCGATACCATCCAAAAAACCATCAATGAGTATAAATCTGAAATTCGGTGAGTAAAGTTTGTTAAGTGTAACTACTTTTTTTCCCGTTAGATGTGCACTTGTTAGAGTTTATTTTTCCAGATACTTTTTCTGAATGCAATGAATACATGTGAAATTATGCCATATAAAACAATCAAATACATCTATCATATTAACACAGTATTTGAAGTCCAATAATGTGAATGAGGATGTAAGGAAATGGTCACTCTGCAGGTGTAAGGGAAAAGTGCTACAGCTACCGCTTCTGAGAGCAGCTTGGCCCCAACTCATAGAATGTTGAAGAAGCTCATCAGTTTGGACCCAGCAATTCTGATTCAGATACAAGATGTTCTTTAAGGAGCTATGTGTGCATATGTACATGGGGACATGTGCAAAGATATGCACAGCATCATTCAAGAGTAAGACAGACTGGACACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGATGCCAAGGTGAGGACAGTTTGAAGCCAGGAGTTTGAGACTAGCCTGTACAAAAAGTTTAAAAAATTAGCTGAGTATAGTAGTATGTGCATGTAGTCCCAACTACTCGGAAGGCTGAGGAAGGAGGATCGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTAGGATTGCACCATTGCACTCCAGCCTGGGTAACAGAGTGAGACCTTGACTCAAAAAAAAAAAAAGAAAAAAGGAAGCCACTAGAAATAACCCAGTAGCAGAGTAAACCCATCTTGATATACGCTTACAGTGAATTTCTGTACCACAGTTAAAATGACTGACTCATATCTGCAGGTATCAACATGGATAAGGAATCATATCATGTATACCATTCTGCAACTTGCTTCTTTATATACAATGCATCTTAGACATTTTCCTGTTACAGTGCATGTAGATTTATATCATGCTTTAAAGGCTGGAATTATGTAGATT | GTTGCAGTCTGAAGTGTAGGGATATTAATGACCAGATCTGATCTCTGAAAGGCCACCCAGGGCTTTCATAAGATACAAAAGACCAGTGGAAGCTGATCCATGTCCCAGTGGTTTTTCCTTCTATAAATCCAAGTGAAGATTCTTGGAAGAAATTGTTGTTACTGTGTTCATAATAGTTCTCGATATATAAGAAAGGGAACAGATACAACAAAGAGAAAAGGAACTAGAGGTCTTTCTCTCTAATAGTATGGGAGTTGTGGTCTTTTGGGCAGTCTAGCCCAGTGGCTGCAAGGAGTCCTGGAAGCTTTTTATACTTGGTTGGGCTAAGCAAAAAGCAGAGACCACCAGCAATTATTGGAATGTGGGGTAATGCAGATTTGGGAAATACAGCATATTCCAGAAAGTACTGCAATATAGTCAATTCATCCTGATTTGAGCCTAAAATATTTGTAAGCACATTCCAGTTTTCAAGGGCATTTTTAAAATAAAACAATCTGTTCAAAACTTATAATCATAGGACTCTAATGCTGGAATCCCCTCTTCTGGGCTGGGCTTCCTACCTCCCTCTGCACATCCCAGACTTCATGCTTTTAGATCCTAGGGCTGTCTTCCCTTCTAAATTGATTGCTGCTTGAAGACAGGCTGTATCACACTGTAGACATCCATTAATCTTTGTTGAGTAAATGAGATGATGCGTGTGAAATGCCTGATATGATACCTAGTGATCTACGAAATGCTAATTTAATCTTTTTCCTTAGCCTCCTATTTCTACACATGAAAAATTAGAGGCCCAGAGATGTATAGTGACTTGCCCAAGGTCTCAGAGCAAGTTCAAGGTAGAGCCAGGCCTAGAATCCAAGTCTCCTAGCCCAGATCTAGCATGTTTACATAACACCATGCAAAAGAATTAAATGAAGAGTTTGCTGAACATGTTACCCATAATTTAGGGAGAATAAAAGCTTCTTTTCTGATTAGAATTTTTACACTTTTCCTTTAAGCTCATGATTTGTAAATAATTCACTTATGCCACATTATCATTATCATACATTATCATTTTCTAGATAAATAGCTCATCTCTGCAAAAAGGAAGGATCAAGTGATGTCTCAACCACCATATCCTTACTATAGTCAGTCTTTATAATGAGAAAAAATAAAGGCACAAAATCAAAGATGTCTCCTCTCCACCCTTGAGCTCCCACCCACAGTAGCTGTAGTAATCAAAGTAAATATCTTGAGGATTTTAAGGAAGAAAAGCAAAGAGATGTATCTGATACATTATATACCAAACGATCCAAGACATTCCTATTGGAGACTTCTGTTTCTGTTTTCTACACACTTGGCTCAGCTGCACAGCCCCCACTCTTATTTTGCAAACCAACATCCCTCCTCCCCATGAAGACTGAGTGCCAGCATGATGCTCAGTTAGGTAGATGTCCCTTGCTGCTATCTACAAAATGAAGCCTTCTCCACATGTTTTAAAATGTAAATACATGGGGTATGTCCAGGATCCAAATAATGATCGGTTTGAACTAGAATCTATGCTCCTCCCAGTAAAAGAATTTCAAGGTCACCAGCTACAAAACCCAAGATTCCAAGAAACAAGGTAGTCTGCATGAAAAAGATTAGAACTACAACTTAGGCAAGTAATGAAACCTAAAAGACTTAGGAAAGCAAGATTGAAATGGTTTCTTTTCTAACTCCCAGTCTTTCATTTTGCTGTTCAAATATTCAAAAAAGAGCTGGCCTCTAAAACCTGGAAATAAGTAATCAAGCATTTTTCACCTGACTAGTCCAGGATAGGAGGTATTTTGCATCTGACCGTTTTCCCATTGTGGATTAGAGAATCATTATCTAGTAAGTGCTTTAACTGTGTTCTGTCTACACTCTGCTTTCCTTGGCAGGCTGTAAAATACGTTCACAGTAGTCAGCATGTGATCAGATCTGGAGACCCTCCTGGAAATTTCCAACTGGACATTGATATTTCAGGGTTAATCTTCACTCATCATCCCTGTTTTAGCCGAGAGCATGTTTTGGCAGCCAAGCTGGCCAATTATATGACCAGTACCTTGCAAGACACCAGAGAAACAAGGCGAAATTTCTTACTGATAAGGTACATGTGATTTCTTCCATAATGATTGTCAATGGAGTTGGTTCTTCCAATGAGCCCAAACAATGAAAATTTCTAACAGCAAAATGTTCATGCCCCTCTTTCACATGTTTCCTCGGTTTAGGATGTGTGATACATTATCCAGCTAGAGACAAAAGGGAAAGATAGAGTTGGTATACATGTGATGTGTACAAATTTATTGGCACACACTCGCCCTAAACAGAAGACTTTCTGTAAACAGTACAGCACCCACCAGAAGTGGGTGTTAGGTGGAAGATATGTGGCTATTACTTGCTTCCGTGATCTCAGAACCTGAGAAAATTGGTGGCTTGAGAATATCTGTCCTTAGAAACATTCTCATCTTGATATTTATTACCCCATCGTGTAGCACTTAAACACAAGTCAGTGTTTCAACTGATGCTCAAAGGAATGGCTAAGCATTTGGATTTATTCCCAATGTGACACTATCCCATGGGATTTTTGTGGGTAATTTTGACTATAGGCAATTTTGGTCTCACGCCCTGACTTTAAAACCTTACTGCCCAAAGAAGAGATAACTTCACAATATCTCGTTTTACGAGTCTGTAATTTTATAGTTTCTTTATATCACAAGAATACCATCATATGTCCTGGACCCAGACAAACATGCTTTTAGCTTTGGAAGAAAACTTGGTTCTAAGATATACACATAAAAGTAATATTTTCATAAGCAGCTTGATTTTCTGGGCCATGGAACAAGGATGGACATACACTATGCTTTACTAATCCAGTTTCTTCAAGAACAGATGAAACAGTTCTCCATCATAATTCATTTATGTGAAAGTCTGGAGACAGCCAGATGCTTGAACATCCGTTCCATTCACAGACTGATGGCACCATTTTGCCCAGGAGAAGTGGGTGGGTCCAGTTGCACTGCAGTAGGGAATAGAGTTTGTAACCCAAAACTTGTATCCATGTCGTTTTAAGCTCCAAGCTTTAAGAAATGCTGTTCAGACTGGCCTTGATCCAGAAAAACCTCATCAGTCTCTCGATACCATCCAAAAAACCATCAATGAGTATAAATCTGAAATTCGGTGAGTAAAGTTTGTTAAGTGTAACTACTTTTTTTCCCGTTAGATGTGCACTTGTTAGAGTTTATTTTTCCAGATACTTTTTCTGAATGCAATGAATACATGTGAAATTATGCCATATAAAACAATCAAATACATCTATCATATTAACACAGTATTTGAAGTCCAATAATGTGAATGAGGATGTAAGGAAATGGTCACTCTGCAGGTGTAAGGGAAAAGTGCTACAGCTACCGCTTCTGAGAGCAGCTTGGCCCCAACTCATAGAATGTTGAAGAAGCTCATCAGTTTGGACCCAGCAATTCTGATTCAGATACAAGATGTTCTTTAAGGAGCTATGTGTGCATATGTACATGGGGACATGTGCAAAGATATGCACAGCATCATTCAAGAGTAAGACAGACTGGACACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGATGCCAAGGTGAGGACAGTTTGAAGCCAGGAGTTTGAGACTAGCCTGTACAAAAAGTTTAAAAAATTAGCTGAGTATAGTAGTATGTGCATGTAGTCCCAACTACTCGGAAGGCTGAGGAAGGAGGATCGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTAGGATTGCACCATTGCACTCCAGCCTGGGTAACAGAGTGAGACCTTGACTCAAAAAAAAAAAAAGAAAAAAGGAAGCCACTAGAAATAACCCAGTAGCAGAGTAAACCCATCTTGATATACGCTTACAGTGAATTTCTGTACCACAGTTAAAATGACTGACTCATATCTGCAGGTATCAACATGGATAAGGAATCATATCATGTATACCATTCTGCAACTTGCTTCTTTATATACAATGCATCTTAGACATTTTCCTGTTACAGTGCATGTAGATTTATATCATGCTTTAAAGGCTGGAATTATGTAGATTN | pathogenic | 80,521 |
Considering the genetic mutation at chromosome 4, position 15527634, impacting CC2D2A (coiled-coil and C2 domain containing 2A): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['COACH_syndrome_2', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | ATCTCTGAAAGGCCACCCAGGGCTTTCATAAGATACAAAAGACCAGTGGAAGCTGATCCATGTCCCAGTGGTTTTTCCTTCTATAAATCCAAGTGAAGATTCTTGGAAGAAATTGTTGTTACTGTGTTCATAATAGTTCTCGATATATAAGAAAGGGAACAGATACAACAAAGAGAAAAGGAACTAGAGGTCTTTCTCTCTAATAGTATGGGAGTTGTGGTCTTTTGGGCAGTCTAGCCCAGTGGCTGCAAGGAGTCCTGGAAGCTTTTTATACTTGGTTGGGCTAAGCAAAAAGCAGAGACCACCAGCAATTATTGGAATGTGGGGTAATGCAGATTTGGGAAATACAGCATATTCCAGAAAGTACTGCAATATAGTCAATTCATCCTGATTTGAGCCTAAAATATTTGTAAGCACATTCCAGTTTTCAAGGGCATTTTTAAAATAAAACAATCTGTTCAAAACTTATAATCATAGGACTCTAATGCTGGAATCCCCTCTTCTGGGCTGGGCTTCCTACCTCCCTCTGCACATCCCAGACTTCATGCTTTTAGATCCTAGGGCTGTCTTCCCTTCTAAATTGATTGCTGCTTGAAGACAGGCTGTATCACACTGTAGACATCCATTAATCTTTGTTGAGTAAATGAGATGATGCGTGTGAAATGCCTGATATGATACCTAGTGATCTACGAAATGCTAATTTAATCTTTTTCCTTAGCCTCCTATTTCTACACATGAAAAATTAGAGGCCCAGAGATGTATAGTGACTTGCCCAAGGTCTCAGAGCAAGTTCAAGGTAGAGCCAGGCCTAGAATCCAAGTCTCCTAGCCCAGATCTAGCATGTTTACATAACACCATGCAAAAGAATTAAATGAAGAGTTTGCTGAACATGTTACCCATAATTTAGGGAGAATAAAAGCTTCTTTTCTGATTAGAATTTTTACACTTTTCCTTTAAGCTCATGATTTGTAAATAATTCACTTATGCCACATTATCATTATCATACATTATCATTTTCTAGATAAATAGCTCATCTCTGCAAAAAGGAAGGATCAAGTGATGTCTCAACCACCATATCCTTACTATAGTCAGTCTTTATAATGAGAAAAAATAAAGGCACAAAATCAAAGATGTCTCCTCTCCACCCTTGAGCTCCCACCCACAGTAGCTGTAGTAATCAAAGTAAATATCTTGAGGATTTTAAGGAAGAAAAGCAAAGAGATGTATCTGATACATTATATACCAAACGATCCAAGACATTCCTATTGGAGACTTCTGTTTCTGTTTTCTACACACTTGGCTCAGCTGCACAGCCCCCACTCTTATTTTGCAAACCAACATCCCTCCTCCCCATGAAGACTGAGTGCCAGCATGATGCTCAGTTAGGTAGATGTCCCTTGCTGCTATCTACAAAATGAAGCCTTCTCCACATGTTTTAAAATGTAAATACATGGGGTATGTCCAGGATCCAAATAATGATCGGTTTGAACTAGAATCTATGCTCCTCCCAGTAAAAGAATTTCAAGGTCACCAGCTACAAAACCCAAGATTCCAAGAAACAAGGTAGTCTGCATGAAAAAGATTAGAACTACAACTTAGGCAAGTAATGAAACCTAAAAGACTTAGGAAAGCAAGATTGAAATGGTTTCTTTTCTAACTCCCAGTCTTTCATTTTGCTGTTCAAATATTCAAAAAAGAGCTGGCCTCTAAAACCTGGAAATAAGTAATCAAGCATTTTTCACCTGACTAGTCCAGGATAGGAGGTATTTTGCATCTGACCGTTTTCCCATTGTGGATTAGAGAATCATTATCTAGTAAGTGCTTTAACTGTGTTCTGTCTACACTCTGCTTTCCTTGGCAGGCTGTAAAATACGTTCACAGTAGTCAGCATGTGATCAGATCTGGAGACCCTCCTGGAAATTTCCAACTGGACATTGATATTTCAGGGTTAATCTTCACTCATCATCCCTGTTTTAGCCGAGAGCATGTTTTGGCAGCCAAGCTGGCCCAGTTATATGACCAGTACCTTGCAAGACACCAGAGAAACAAGGCGAAATTTCTTACTGATAAGGTACATGTGATTTCTTCCATAATGATTGTCAATGGAGTTGGTTCTTCCAATGAGCCCAAACAATGAAAATTTCTAACAGCAAAATGTTCATGCCCCTCTTTCACATGTTTCCTCGGTTTAGGATGTGTGATACATTATCCAGCTAGAGACAAAAGGGAAAGATAGAGTTGGTATACATGTGATGTGTACAAATTTATTGGCACACACTCGCCCTAAACAGAAGACTTTCTGTAAACAGTACAGCACCCACCAGAAGTGGGTGTTAGGTGGAAGATATGTGGCTATTACTTGCTTCCGTGATCTCAGAACCTGAGAAAATTGGTGGCTTGAGAATATCTGTCCTTAGAAACATTCTCATCTTGATATTTATTACCCCATCGTGTAGCACTTAAACACAAGTCAGTGTTTCAACTGATGCTCAAAGGAATGGCTAAGCATTTGGATTTATTCCCAATGTGACACTATCCCATGGGATTTTTGTGGGTAATTTTGACTATAGGCAATTTTGGTCTCACGCCCTGACTTTAAAACCTTACTGCCCAAAGAAGAGATAACTTCACAATATCTCGTTTTACGAGTCTGTAATTTTATAGTTTCTTTATATCACAAGAATACCATCATATGTCCTGGACCCAGACAAACATGCTTTTAGCTTTGGAAGAAAACTTGGTTCTAAGATATACACATAAAAGTAATATTTTCATAAGCAGCTTGATTTTCTGGGCCATGGAACAAGGATGGACATACACTATGCTTTACTAATCCAGTTTCTTCAAGAACAGATGAAACAGTTCTCCATCATAATTCATTTATGTGAAAGTCTGGAGACAGCCAGATGCTTGAACATCCGTTCCATTCACAGACTGATGGCACCATTTTGCCCAGGAGAAGTGGGTGGGTCCAGTTGCACTGCAGTAGGGAATAGAGTTTGTAACCCAAAACTTGTATCCATGTCGTTTTAAGCTCCAAGCTTTAAGAAATGCTGTTCAGACTGGCCTTGATCCAGAAAAACCTCATCAGTCTCTCGATACCATCCAAAAAACCATCAATGAGTATAAATCTGAAATTCGGTGAGTAAAGTTTGTTAAGTGTAACTACTTTTTTTCCCGTTAGATGTGCACTTGTTAGAGTTTATTTTTCCAGATACTTTTTCTGAATGCAATGAATACATGTGAAATTATGCCATATAAAACAATCAAATACATCTATCATATTAACACAGTATTTGAAGTCCAATAATGTGAATGAGGATGTAAGGAAATGGTCACTCTGCAGGTGTAAGGGAAAAGTGCTACAGCTACCGCTTCTGAGAGCAGCTTGGCCCCAACTCATAGAATGTTGAAGAAGCTCATCAGTTTGGACCCAGCAATTCTGATTCAGATACAAGATGTTCTTTAAGGAGCTATGTGTGCATATGTACATGGGGACATGTGCAAAGATATGCACAGCATCATTCAAGAGTAAGACAGACTGGACACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGATGCCAAGGTGAGGACAGTTTGAAGCCAGGAGTTTGAGACTAGCCTGTACAAAAAGTTTAAAAAATTAGCTGAGTATAGTAGTATGTGCATGTAGTCCCAACTACTCGGAAGGCTGAGGAAGGAGGATCGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTAGGATTGCACCATTGCACTCCAGCCTGGGTAACAGAGTGAGACCTTGACTCAAAAAAAAAAAAAGAAAAAAGGAAGCCACTAGAAATAACCCAGTAGCAGAGTAAACCCATCTTGATATACGCTTACAGTGAATTTCTGTACCACAGTTAAAATGACTGACTCATATCTGCAGGTATCAACATGGATAAGGAATCATATCATGTATACCATTCTGCAACTTGCTTCTTTATATACAATGCATCTTAGACATTTTCCTGTTACAGTGCATGTAGATTTATATCATGCTTTAAAGGCTGGAATTATGTAGATTTATTGTAGTTTGTATAATTCTCAACTGATACGCATTTGCA | ATCTCTGAAAGGCCACCCAGGGCTTTCATAAGATACAAAAGACCAGTGGAAGCTGATCCATGTCCCAGTGGTTTTTCCTTCTATAAATCCAAGTGAAGATTCTTGGAAGAAATTGTTGTTACTGTGTTCATAATAGTTCTCGATATATAAGAAAGGGAACAGATACAACAAAGAGAAAAGGAACTAGAGGTCTTTCTCTCTAATAGTATGGGAGTTGTGGTCTTTTGGGCAGTCTAGCCCAGTGGCTGCAAGGAGTCCTGGAAGCTTTTTATACTTGGTTGGGCTAAGCAAAAAGCAGAGACCACCAGCAATTATTGGAATGTGGGGTAATGCAGATTTGGGAAATACAGCATATTCCAGAAAGTACTGCAATATAGTCAATTCATCCTGATTTGAGCCTAAAATATTTGTAAGCACATTCCAGTTTTCAAGGGCATTTTTAAAATAAAACAATCTGTTCAAAACTTATAATCATAGGACTCTAATGCTGGAATCCCCTCTTCTGGGCTGGGCTTCCTACCTCCCTCTGCACATCCCAGACTTCATGCTTTTAGATCCTAGGGCTGTCTTCCCTTCTAAATTGATTGCTGCTTGAAGACAGGCTGTATCACACTGTAGACATCCATTAATCTTTGTTGAGTAAATGAGATGATGCGTGTGAAATGCCTGATATGATACCTAGTGATCTACGAAATGCTAATTTAATCTTTTTCCTTAGCCTCCTATTTCTACACATGAAAAATTAGAGGCCCAGAGATGTATAGTGACTTGCCCAAGGTCTCAGAGCAAGTTCAAGGTAGAGCCAGGCCTAGAATCCAAGTCTCCTAGCCCAGATCTAGCATGTTTACATAACACCATGCAAAAGAATTAAATGAAGAGTTTGCTGAACATGTTACCCATAATTTAGGGAGAATAAAAGCTTCTTTTCTGATTAGAATTTTTACACTTTTCCTTTAAGCTCATGATTTGTAAATAATTCACTTATGCCACATTATCATTATCATACATTATCATTTTCTAGATAAATAGCTCATCTCTGCAAAAAGGAAGGATCAAGTGATGTCTCAACCACCATATCCTTACTATAGTCAGTCTTTATAATGAGAAAAAATAAAGGCACAAAATCAAAGATGTCTCCTCTCCACCCTTGAGCTCCCACCCACAGTAGCTGTAGTAATCAAAGTAAATATCTTGAGGATTTTAAGGAAGAAAAGCAAAGAGATGTATCTGATACATTATATACCAAACGATCCAAGACATTCCTATTGGAGACTTCTGTTTCTGTTTTCTACACACTTGGCTCAGCTGCACAGCCCCCACTCTTATTTTGCAAACCAACATCCCTCCTCCCCATGAAGACTGAGTGCCAGCATGATGCTCAGTTAGGTAGATGTCCCTTGCTGCTATCTACAAAATGAAGCCTTCTCCACATGTTTTAAAATGTAAATACATGGGGTATGTCCAGGATCCAAATAATGATCGGTTTGAACTAGAATCTATGCTCCTCCCAGTAAAAGAATTTCAAGGTCACCAGCTACAAAACCCAAGATTCCAAGAAACAAGGTAGTCTGCATGAAAAAGATTAGAACTACAACTTAGGCAAGTAATGAAACCTAAAAGACTTAGGAAAGCAAGATTGAAATGGTTTCTTTTCTAACTCCCAGTCTTTCATTTTGCTGTTCAAATATTCAAAAAAGAGCTGGCCTCTAAAACCTGGAAATAAGTAATCAAGCATTTTTCACCTGACTAGTCCAGGATAGGAGGTATTTTGCATCTGACCGTTTTCCCATTGTGGATTAGAGAATCATTATCTAGTAAGTGCTTTAACTGTGTTCTGTCTACACTCTGCTTTCCTTGGCAGGCTGTAAAATACGTTCACAGTAGTCAGCATGTGATCAGATCTGGAGACCCTCCTGGAAATTTCCAACTGGACATTGATATTTCAGGGTTAATCTTCACTCATCATCCCTGTTTTAGCCGAGAGCATGTTTTGGCAGCCAAGCTGGCCCAGTTATATGACCAGTACCTTGCAAGACACCAGAGAAACAAGCGAAATTTCTTACTGATAAGGTACATGTGATTTCTTCCATAATGATTGTCAATGGAGTTGGTTCTTCCAATGAGCCCAAACAATGAAAATTTCTAACAGCAAAATGTTCATGCCCCTCTTTCACATGTTTCCTCGGTTTAGGATGTGTGATACATTATCCAGCTAGAGACAAAAGGGAAAGATAGAGTTGGTATACATGTGATGTGTACAAATTTATTGGCACACACTCGCCCTAAACAGAAGACTTTCTGTAAACAGTACAGCACCCACCAGAAGTGGGTGTTAGGTGGAAGATATGTGGCTATTACTTGCTTCCGTGATCTCAGAACCTGAGAAAATTGGTGGCTTGAGAATATCTGTCCTTAGAAACATTCTCATCTTGATATTTATTACCCCATCGTGTAGCACTTAAACACAAGTCAGTGTTTCAACTGATGCTCAAAGGAATGGCTAAGCATTTGGATTTATTCCCAATGTGACACTATCCCATGGGATTTTTGTGGGTAATTTTGACTATAGGCAATTTTGGTCTCACGCCCTGACTTTAAAACCTTACTGCCCAAAGAAGAGATAACTTCACAATATCTCGTTTTACGAGTCTGTAATTTTATAGTTTCTTTATATCACAAGAATACCATCATATGTCCTGGACCCAGACAAACATGCTTTTAGCTTTGGAAGAAAACTTGGTTCTAAGATATACACATAAAAGTAATATTTTCATAAGCAGCTTGATTTTCTGGGCCATGGAACAAGGATGGACATACACTATGCTTTACTAATCCAGTTTCTTCAAGAACAGATGAAACAGTTCTCCATCATAATTCATTTATGTGAAAGTCTGGAGACAGCCAGATGCTTGAACATCCGTTCCATTCACAGACTGATGGCACCATTTTGCCCAGGAGAAGTGGGTGGGTCCAGTTGCACTGCAGTAGGGAATAGAGTTTGTAACCCAAAACTTGTATCCATGTCGTTTTAAGCTCCAAGCTTTAAGAAATGCTGTTCAGACTGGCCTTGATCCAGAAAAACCTCATCAGTCTCTCGATACCATCCAAAAAACCATCAATGAGTATAAATCTGAAATTCGGTGAGTAAAGTTTGTTAAGTGTAACTACTTTTTTTCCCGTTAGATGTGCACTTGTTAGAGTTTATTTTTCCAGATACTTTTTCTGAATGCAATGAATACATGTGAAATTATGCCATATAAAACAATCAAATACATCTATCATATTAACACAGTATTTGAAGTCCAATAATGTGAATGAGGATGTAAGGAAATGGTCACTCTGCAGGTGTAAGGGAAAAGTGCTACAGCTACCGCTTCTGAGAGCAGCTTGGCCCCAACTCATAGAATGTTGAAGAAGCTCATCAGTTTGGACCCAGCAATTCTGATTCAGATACAAGATGTTCTTTAAGGAGCTATGTGTGCATATGTACATGGGGACATGTGCAAAGATATGCACAGCATCATTCAAGAGTAAGACAGACTGGACACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGATGCCAAGGTGAGGACAGTTTGAAGCCAGGAGTTTGAGACTAGCCTGTACAAAAAGTTTAAAAAATTAGCTGAGTATAGTAGTATGTGCATGTAGTCCCAACTACTCGGAAGGCTGAGGAAGGAGGATCGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTAGGATTGCACCATTGCACTCCAGCCTGGGTAACAGAGTGAGACCTTGACTCAAAAAAAAAAAAAGAAAAAAGGAAGCCACTAGAAATAACCCAGTAGCAGAGTAAACCCATCTTGATATACGCTTACAGTGAATTTCTGTACCACAGTTAAAATGACTGACTCATATCTGCAGGTATCAACATGGATAAGGAATCATATCATGTATACCATTCTGCAACTTGCTTCTTTATATACAATGCATCTTAGACATTTTCCTGTTACAGTGCATGTAGATTTATATCATGCTTTAAAGGCTGGAATTATGTAGATTTATTGTAGTTTGTATAATTCTCAACTGATACGCATTTGCAN | pathogenic | 80,522 |
The genetic variant at chromosome 4, position 15536975, affecting gene CC2D2A (coiled-coil and C2 domain containing 2A): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['CC2D2A-related_disorder', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6'] | CATTGCTTTGAAAACAGCCATATTTCAGCCAAAGATAGCTGCAAATTGTAATTTTTCTTTAGCTGTAATTATAAAATTGAAAAAAAAAAGGTTAGTTTTCAGGACAAGTGTAAGACTGTGTGATCTTTGAGAGCAGGGACCCTATTGCCATTGTATATTTGGTCCCTACAAGAGCACCTGCCACTTAGTATCTGCTCAGTTAATATTGGTTAACAAATTCAAATATGCTACCCCACAAAAATAATGGCTGTCTCCCAGAAATTCCAGTGTTTGTGCTTTCGAATTCCATCTCCTAGGCTGAGCCTCCCACAGAAGCAGTACAGAAATCCTTGCCAGATTATTTTCTCTCTCCCTCCCTCCCATCATCCCTGCTGCTAACTCTCCCTCCATCCCGCCCATCATCCCTGCTGCTAACTCTCCCTCCATCCCTCCCCTCCTTCTTTTTGAGTTTATAGGGTAAACTAAATTTATAGGCATTTTACCCATAAGGTCATAACACTCCTTCCCCTGATAAGTGGCTATCTTCCAAATTCTTTTGGAGTACCCTTTTTTCACATTCTTGATTCATCTAGCCACCTTATAATAAAGCATAGTTTTTCCCACAAAAAAAAAACTATTCAAGTTTATTCATGCTTTTGAATAACAATGAGAAAAGTGAATGGTTTTCTGTATATCAGAGATGGAACATAATTTTGAAGCCGAATTCCCCCTGGTGTTTATAAATTTCGGGTACCACTGTGCATCCAAAGTGACTTATTTGGTAGTCATCCTAGAGAGCTGCAAGAGCTTGTGCCTTGGGGGACTGTAAACTGCTTAAACTCCAGGCGATATGTGTCCATAAGCAAATATTTGTCAGCTTTATGCACTTGTCTAAGTTTATGTAAAATGGATTACGAAGCTTAACTGCCTTGGGGGAAATAGTGCAGTCAGTATTCGGCACCATCTCCAAAGTGCTGGGTGGGATGGATGAAGTCACCACACATTTGCCGCCATCTACCAGGAGAGCCATGCTGTTCATCAACATGTTAAGGGCTCTGAAAAGATGACCAGCAAGGAACCTTTCACACTTATTTAATCCAGTGTTAATATGGCCACAATATCTTTTCCTGGTGGTACATCTCACAGAACTAATGTCCTACAGAACACACTGTGGGAAACGGTGGTTTGAACTGGGCTGATCTCCTGGTGGAGTATAAGCAAAATCATCAAAGAAAAACCCAAATCCTCCATCCAAAGTCAAAAAAGTGGTTTCACCATCATTCTCAGCAAACTATCACAAGGACAGAAAACCAAACACCGCATGTTCTCACTCACAGGTGGGAATTGAACAATGAGAACACGTGGACACAGGGCGGGGAACATCACACACCAGGGCCTGTCGGGGGTGGGAGGGTTGGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGATGGGTTGATGCATGCAGTAAACCAACATGGCACATGTATACCTATGTATCAAACCTGCATGTTGTGCACATGTACCCTAGAACTTAAAGTATAATTTTAAAAAATTAAAATTAAAATTTTTTAAAAAGTGGTTTCAGGGACTCAGTAGCAACAAAATGAAGCAGTTCCTCAGAGACTTGAAGAAGTCATAAAATAACTAATGAAATTTCCACCACTATCAGCTGAGAACTTACAGGCCCCATGTCAGCACACCACACAGATCATTTAACACAGAGAGGCATGGCTGCTCAGTGTTCAGTGGGTTGGGCTCATATTCAGCCCTTCCACTCACCAGCTGTGTGTTCTTGGGAACTTACTTAACTTCTATGTGCCTCTGTCATCTCATGTATACGATGTGGATAATAATAGCATCTGCCTCACAGGATTGTGAGTTTACATGTGCGACATTTTTAGAAGAGGAACTGGCACATAGCAAGTCCAATATAAGTATTTGCTGTTATTATTGCTCTCTTACTTAATTTCCAGAAATAACCAAGGGACTACAAATTATTTTAAAGGGAAAAAGCTGACCAGAAAGCAGATGAAGAAGCATATGAAGCAGAAATTCAAGCTGAAATAAGTGAACTGTTAGAAGAGCACACGGAGGAGTACGCACAGAAGATGGAAGAATACAGAACGTCGTTACAACAGTGGAAGGCCTGGAGGAAAGTGCAAGTGTGTAAACAAACACTCAGCCTGGAATAGGGCTGGCCAGGAAGTGTCTGGGAGGGCAGCCTCCAGTACAGGAGTGGGGAAACCAGACTGGCAGACTAGGGTATCCTGTGGCTCCCTCTGTCTCTTCCCCGTCCCCTGGCTAAGGGATAAAAGGATGAATGAATTGACTGGCTAATGCATTTGCTTAAAAAGCCACCCAGCTGACTGATACCAGAGCCAGCTGTGTCCACAGAGAATGCTATGGTAGCACTCTGTGCCTATTTAAGTAATAATGTAGTAATCACTAATGCATGTGTCCAGCACTGTGCTGAGTATCTTACATGCATTATTCCATTAAATGTAGGGATTGATGCTTCTGAGTTTCCTTCAGAAAATTATATAACTTTATGCACATGACCCTACAAAACTGAGTCCAAGGGCAACAAATAATAGATCAGGTGGGCCTGCAATGCTCACTGTGCTTACATGCCTTATTTTAATATTTCAAGATGTGTACTTCGCCTTGAAAACCAAAATTAATGATCACATGAATACCTACCATTTTTTAAGCTCTTTCCAGGGACTAGGCTGTATGACAAATGCTTTTTAGGCATTTCAACAGTCTCATTTCAACAGCCCTGGGAGAAATTTCCTGGGCTCCATTCTGTAGATGAAAAAACTGAGGCACAGAGAGGTCAGGTGGCTTAGTGACCTGCCTGATTACACACTTCTGGTTGAAATGGGGCTGGGGTTTGTATCCAGGTCCATCTGGCTATGAAGACTGTGCTCTTAAATGAAATTCCAAAATTCCTGTTTGATATCATGTTGCCTCTAACTCAACAGAGGGCCAAGAAGAAGAAAAGGAAACAAGCAGCAGAAGAACATCCCGGTGATGAGATTGCAGAGCCGTATCCCGAGGAGGACCTTGTGAAGCCCAGCCCTCCAGAGCCCACTGATCGGGCAGTGATAGAGCAGGAGGTGAGGGAGAGAGCAGCCCAGAGCAGGAGGAGGCCTTGGGAGCCCACGCTGGTCCCGGAGCTAAGCCTGGCAGGAAGCGTAACACCCAATGACCAGTGCCCCAGGTGAGTGGATGCTCCGACCGTAAATGAGGCTGACATCTGATACACATGTTCACGTGGGCACATGCACACACACATGCACGACATGGGGAGTGTACACTTACTGACCTACACGAGCATCAGGAGTATCATTAACTCTAAATGAATATTAGGTTGAACCACATGAAATTGCTGACATTTGCCCACTTTAGGTGATTTCATATGATTCACCTACCTCATGCATCTGCACTGGCCACTCAGGAGCACACTGGAAAGCTCCCTGTAGGAGAAGCATCCCAGTTGCAAATCTCTGCCTGCTCTTCACAGTGGCTGTCTGTGTGGCTTTTGATTTGAGTCCCTTATCTGTAACCTCAATGAGTCCTTCAGTCCACTGGTAGCATGTCCCACCTTTCTGGCACAGGCACGGATGCCTTTCCTTGCCCCTTCCTTGATTTCAGCTGCTCCAGGGATCAGCTTTTCTCCTTGAAGACCCCCCAGAAAGTTGTGGGTGGTATTTAAGTCAGGCCATCTGAAGCACACCCTCCAGATATGATAAAAATACATGTCTAGTCATTCTCACTTGATGCCTAAGAGAAACATCATTTGATTTATATACATTTGTACATATAATAATTCATAAACATACATTTGTAAGTTCATCTTTTTAAAAATTATAACATAATAAAAATATTTTTATGTTTCCTATTTATTCTTTCCTTCACTGAATAGCCATGGTTCTCAAAGTATAGCCCCAGAATCAGCAGCATCAGCATCACTGAGGACTTGTTAGAAACATAAACTCAGGCCAGGCATGGTGGCTCATGCCTGTAACCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGGCCAGGAGTTGGAGACCAGCCTGGGGAACAAAATGAG | CATTGCTTTGAAAACAGCCATATTTCAGCCAAAGATAGCTGCAAATTGTAATTTTTCTTTAGCTGTAATTATAAAATTGAAAAAAAAAAGGTTAGTTTTCAGGACAAGTGTAAGACTGTGTGATCTTTGAGAGCAGGGACCCTATTGCCATTGTATATTTGGTCCCTACAAGAGCACCTGCCACTTAGTATCTGCTCAGTTAATATTGGTTAACAAATTCAAATATGCTACCCCACAAAAATAATGGCTGTCTCCCAGAAATTCCAGTGTTTGTGCTTTCGAATTCCATCTCCTAGGCTGAGCCTCCCACAGAAGCAGTACAGAAATCCTTGCCAGATTATTTTCTCTCTCCCTCCCTCCCATCATCCCTGCTGCTAACTCTCCCTCCATCCCGCCCATCATCCCTGCTGCTAACTCTCCCTCCATCCCTCCCCTCCTTCTTTTTGAGTTTATAGGGTAAACTAAATTTATAGGCATTTTACCCATAAGGTCATAACACTCCTTCCCCTGATAAGTGGCTATCTTCCAAATTCTTTTGGAGTACCCTTTTTTCACATTCTTGATTCATCTAGCCACCTTATAATAAAGCATAGTTTTTCCCACAAAAAAAAAACTATTCAAGTTTATTCATGCTTTTGAATAACAATGAGAAAAGTGAATGGTTTTCTGTATATCAGAGATGGAACATAATTTTGAAGCCGAATTCCCCCTGGTGTTTATAAATTTCGGGTACCACTGTGCATCCAAAGTGACTTATTTGGTAGTCATCCTAGAGAGCTGCAAGAGCTTGTGCCTTGGGGGACTGTAAACTGCTTAAACTCCAGGCGATATGTGTCCATAAGCAAATATTTGTCAGCTTTATGCACTTGTCTAAGTTTATGTAAAATGGATTACGAAGCTTAACTGCCTTGGGGGAAATAGTGCAGTCAGTATTCGGCACCATCTCCAAAGTGCTGGGTGGGATGGATGAAGTCACCACACATTTGCCGCCATCTACCAGGAGAGCCATGCTGTTCATCAACATGTTAAGGGCTCTGAAAAGATGACCAGCAAGGAACCTTTCACACTTATTTAATCCAGTGTTAATATGGCCACAATATCTTTTCCTGGTGGTACATCTCACAGAACTAATGTCCTACAGAACACACTGTGGGAAACGGTGGTTTGAACTGGGCTGATCTCCTGGTGGAGTATAAGCAAAATCATCAAAGAAAAACCCAAATCCTCCATCCAAAGTCAAAAAAGTGGTTTCACCATCATTCTCAGCAAACTATCACAAGGACAGAAAACCAAACACCGCATGTTCTCACTCACAGGTGGGAATTGAACAATGAGAACACGTGGACACAGGGCGGGGAACATCACACACCAGGGCCTGTCGGGGGTGGGAGGGTTGGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGATGGGTTGATGCATGCAGTAAACCAACATGGCACATGTATACCTATGTATCAAACCTGCATGTTGTGCACATGTACCCTAGAACTTAAAGTATAATTTTAAAAAATTAAAATTAAAATTTTTTAAAAAGTGGTTTCAGGGACTCAGTAGCAACAAAATGAAGCAGTTCCTCAGAGACTTGAAGAAGTCATAAAATAACTAATGAAATTTCCACCACTATCAGCTGAGAACTTACAGGCCCCATGTCAGCACACCACACAGATCATTTAACACAGAGAGGCATGGCTGCTCAGTGTTCAGTGGGTTGGGCTCATATTCAGCCCTTCCACTCACCAGCTGTGTGTTCTTGGGAACTTACTTAACTTCTATGTGCCTCTGTCATCTCATGTATACGATGTGGATAATAATAGCATCTGCCTCACAGGATTGTGAGTTTACATGTGCGACATTTTTAGAAGAGGAACTGGCACATAGCAAGTCCAATATAAGTATTTGCTGTTATTATTGCTCTCTTACTTAATTTCCAGAAATAACCAAGGGACTACAAATTATTTTAAAGGGAAAAAGCTGACCAGAAAGCAGATGAAGAAGCATATGAAGCAGAAATTCAAGCTGAATAAGTGAACTGTTAGAAGAGCACACGGAGGAGTACGCACAGAAGATGGAAGAATACAGAACGTCGTTACAACAGTGGAAGGCCTGGAGGAAAGTGCAAGTGTGTAAACAAACACTCAGCCTGGAATAGGGCTGGCCAGGAAGTGTCTGGGAGGGCAGCCTCCAGTACAGGAGTGGGGAAACCAGACTGGCAGACTAGGGTATCCTGTGGCTCCCTCTGTCTCTTCCCCGTCCCCTGGCTAAGGGATAAAAGGATGAATGAATTGACTGGCTAATGCATTTGCTTAAAAAGCCACCCAGCTGACTGATACCAGAGCCAGCTGTGTCCACAGAGAATGCTATGGTAGCACTCTGTGCCTATTTAAGTAATAATGTAGTAATCACTAATGCATGTGTCCAGCACTGTGCTGAGTATCTTACATGCATTATTCCATTAAATGTAGGGATTGATGCTTCTGAGTTTCCTTCAGAAAATTATATAACTTTATGCACATGACCCTACAAAACTGAGTCCAAGGGCAACAAATAATAGATCAGGTGGGCCTGCAATGCTCACTGTGCTTACATGCCTTATTTTAATATTTCAAGATGTGTACTTCGCCTTGAAAACCAAAATTAATGATCACATGAATACCTACCATTTTTTAAGCTCTTTCCAGGGACTAGGCTGTATGACAAATGCTTTTTAGGCATTTCAACAGTCTCATTTCAACAGCCCTGGGAGAAATTTCCTGGGCTCCATTCTGTAGATGAAAAAACTGAGGCACAGAGAGGTCAGGTGGCTTAGTGACCTGCCTGATTACACACTTCTGGTTGAAATGGGGCTGGGGTTTGTATCCAGGTCCATCTGGCTATGAAGACTGTGCTCTTAAATGAAATTCCAAAATTCCTGTTTGATATCATGTTGCCTCTAACTCAACAGAGGGCCAAGAAGAAGAAAAGGAAACAAGCAGCAGAAGAACATCCCGGTGATGAGATTGCAGAGCCGTATCCCGAGGAGGACCTTGTGAAGCCCAGCCCTCCAGAGCCCACTGATCGGGCAGTGATAGAGCAGGAGGTGAGGGAGAGAGCAGCCCAGAGCAGGAGGAGGCCTTGGGAGCCCACGCTGGTCCCGGAGCTAAGCCTGGCAGGAAGCGTAACACCCAATGACCAGTGCCCCAGGTGAGTGGATGCTCCGACCGTAAATGAGGCTGACATCTGATACACATGTTCACGTGGGCACATGCACACACACATGCACGACATGGGGAGTGTACACTTACTGACCTACACGAGCATCAGGAGTATCATTAACTCTAAATGAATATTAGGTTGAACCACATGAAATTGCTGACATTTGCCCACTTTAGGTGATTTCATATGATTCACCTACCTCATGCATCTGCACTGGCCACTCAGGAGCACACTGGAAAGCTCCCTGTAGGAGAAGCATCCCAGTTGCAAATCTCTGCCTGCTCTTCACAGTGGCTGTCTGTGTGGCTTTTGATTTGAGTCCCTTATCTGTAACCTCAATGAGTCCTTCAGTCCACTGGTAGCATGTCCCACCTTTCTGGCACAGGCACGGATGCCTTTCCTTGCCCCTTCCTTGATTTCAGCTGCTCCAGGGATCAGCTTTTCTCCTTGAAGACCCCCCAGAAAGTTGTGGGTGGTATTTAAGTCAGGCCATCTGAAGCACACCCTCCAGATATGATAAAAATACATGTCTAGTCATTCTCACTTGATGCCTAAGAGAAACATCATTTGATTTATATACATTTGTACATATAATAATTCATAAACATACATTTGTAAGTTCATCTTTTTAAAAATTATAACATAATAAAAATATTTTTATGTTTCCTATTTATTCTTTCCTTCACTGAATAGCCATGGTTCTCAAAGTATAGCCCCAGAATCAGCAGCATCAGCATCACTGAGGACTTGTTAGAAACATAAACTCAGGCCAGGCATGGTGGCTCATGCCTGTAACCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGGCCAGGAGTTGGAGACCAGCCTGGGGAACAAAATGAGN | pathogenic | 80,535 |
Clinical classification of chromosome 4, position 15550862, gene CC2D2A (coiled-coil and C2 domain containing 2A): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['COACH_syndrome_2', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | ATAAAAATATAGAGAACATTTTTTAAAAGAGGAAGGGTCACTTATAAATTAATAGAGGCTTGAGGAACATATCAGTCAATTACAACATATGGAATATATTTTGATCCTGATTCAAACAAAATGTTACAGAATTTTTTGAGGCTCTCAAGGAAATTTGAAACTTACTAATAGTTGAGGTTATTAAGGAATTATTATAAAAATGGTATTGTAATTATGCTTTTTAAAAATATCTATTATAGATACATATTGAAATATTTACAGATAAAATGATGTCTAGATTCAAAATAATGGAGGGGAGGGGAGTGGTTGACAGTATAGATGAAGTAAGATGGTCATAACATAGTGATCATTGAAGCTGGGGGTGACAGGTCTGTGGCATATTATTATTCCTGCATTATATGTGTTTGAAATTTTCCATAAAAGACTTTTTAGTATAGATCAAAATATTGCCTTTTTAACTGATAAAGATGAATTTAGAGAGTGTGTTTTAAGTGTGCCACTTACGGGCTTCCTGCTGAACTCCTGCCTATTAGAATAGCTCACAGCAAAATTAAGTCTGGGGTCCTGAATTCAGTACCTGTGCAATTTCTGCCTTTGTCTTTGACCCAGTGCCCCTCCATGATCAGCCAGCCATCTTGCAAAGGTGAGTGATGGATACTGGGGAGGCAAGGCCAGGATAGTAGCCAGTCACCACTTCATCCTCACTCCTGGACAAGAATTCAGATCAGGCTGTAATCCCAGCACATGGGGAAGCTGAGGAGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAACGCTGTCTCTACTAAAAATACAAACATTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTTGCGGGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGGCACTGCACTCCAGCCTAGGTGACAGGGCGAGACTCCATCTAAAAAAAGAAAAGTTCAGATCATATGCCCTGTAAGGGAGGGTTGGCGGAAAGAATCCATGGTGTCATCTTTGTGCATTCAAGTGGTAAGTGGAAAATATTAACTAGTGGGGGACTATTACATAAGAAGAAAAATATAAAGATTAATCAGTGGAAATAAAAGTAGTAAAATCAGCATTTTTCAAAAAATGTAAACCAGTCACAGAGACCTCATGTACAGAAAGAATAAAACACAGGAAAGAAGCCAGGAGAACTGTGGAATATTATGTCATATTGCCACAAAAGTGAAGTGTGCCAAGAATACAGGGGATCGAATGGAGCCAAGGGTCCAACTGAGGCTGGATTGTGTATTCTTAAACGATGGTTGCCCTGCAATGGGGCCCTTCACCTCATGGTGATGGCATCATAATGAGACACACTGCAGTGATCAGTAGCAGAGCTGCTGATGGTCTAATTGGCTCCATCTAGGAGAAGATCTGAGAAAAATCTGGAGTTTCAGCAGCTAACAAATAAAATGAGGCCTGAAAGAGAAGAACTTGATAGATTTACTAAAAATGTAACACTCTGGAGTGCTTCTGCATATGGAGCTTCTCCGACTGACTTGGAGATTGGTGCAGATAATAAGCCATCTGGGGGCATGTCCTTACTGTCCCACCCATTCCTCCTGATGGCATTACTGTCTGAATACAACCTGAGCCTGGAAAAGGAGGAGGCCCATTCTCCTAGCAAGCCATATATTGGTTTGGAATAAAAACAATTATCCTCGCCTGCTACTTTGATTAGCCTCCCTACCCAGAAGATTAGTCCAGGCAAGAAAGCTGGGTGTCAACAACTTGACCACAAACAGTTGTAAGCTCATCTCCATGGAAACCATATAGTAACACAACTCAACTTTCCACAATGAGATGAGCCCTTAGGGCTGGAACAGTGACCAGCACAAATACTAACAACATGGACTGATTATCTGAGCGTGAGCACACACTACTGCTGTTTTTATTGGCTATTTCTCTTCTCTGGTTTTCAGGTCTATGAAACTGTCGGACACAGTAGTCCCACCTTGCTAGCAGAAGTGTTTCTGCCTATTCCTGAGACTACTGTTGTCACTGGAAGGGCTCCTACTGAAGAAGTGGAGTTTAGCAGTAATCAGCATGTGACACTGGACCACGAGGGAGTTGGAAGTGGTATGGAAAGCTAATATCTTCAATGGTTCACTGTTTCATTGTCAGATTTGAATGTGTATATATCTATTTCACTTCCCAGACAACCATAGAATTATAAAATTGATATCAAAAATTCAAATTCAAACAATGATGCTATGCAACTTTTTGCCAAGTTGCTTTTTATATACTGTTGGTGACAATGTAAGTGCATATAACTGTGCAACTATGAAGTAGTTTGGCAGTGTAAGTTGAGAACCTTGAAAATGACCTTTGGTGCCTTACTTTTATTTCTAGGAATCTTTCCTAAGAAAATAATTTGAAAGGAGGACAAACATGTATGCATAAAAATGTACATCACAGTGTTGTTCATAAGCCCAAAAAGTTTGAAATAATTATAACAGGGAGATTTTTAATTAATATTCTCTCATCTCCTTCTATAATTCCGATTGGATATATGATGGATCTTCTCACTCCTTCCTCCATGTTTCTTAACCTTTCTTCATTACCTTTGCTGTCTTTTTCTTTCACTGCTACAATCTATATAATTTCTTTAAATTTGTCCTCCAAGCCATGAATTCACTTTTTGGCTGTCTCTTATTATTGGAACTAATCCTTTCTGTTTTTCCTTCCAATTACTGTATATTTCAACTCTAGAAATTATGCTTAGTTCTTTCCCAATCAGTGTGGTCAGTTCTGACAGCTTTTTTTCCTTTCCTCAGACTCTCAATCATTTCTTTTATACATTCATTCATTCATTTAAATATATTTAAAATATTCTTAAATATTAGGTATCTGATCATTCCAATACCTATCTACTTATTGGTCTGATTCTGTTGCCTCTTGTTTATGGTGTCTTGCTTCCTCATGTGTCTGTTTTTTTATTGTGACTTATATCTGGAACTTTATTTGCATTATTTATTTAAGGCCGAATCCAATCCTCAGGTCCAGAGACTTAGGTTTTAGTTCCAGCTCTGATATTGGCAAGCTGTGAGACTCTGGTAGTCTTGTAACCTCTTTGCATATCATTTTCCTCATTTATAAAATGGATCTATTAATAGCTCCTTTAATGTCTTATAAGGTTATTTTGAAGATCAAGATAGGATGTTCAATATGAAGGAAAGATCTAGAGTTACTTCATTTAGTGCTTGAAAATCTTCTCCTTTAGTTGATTAAATAACTGCCCAGAGCGTTTTTACCATTAAATTCCCATCGGTAGAGGCCAAATCAGTGAGAGTTTACTGTAGCCACAACAGCTTAGTAATAATTAACATGTGTTGTGTGATCACTATTTGCCAGGCATTGTGTAAGTGCTTTGCAAATATTAACTTATTTAACTCCTGTTCCTCACGTCTGTCTTAGGGTGCTTGCACTTGTTCCTTCTGCCAGTAATGCTCTTTTCCAAAACAATACACCTCTACCTCCACTTCTTCATTTTCTTCAGCCATTTACTCAAAAGTCGCCTTCATTGAGGCTTTCCTGGCCACCCCTTCTAAAAGTTTATCCCCTCTCCACTCTCCAAAGCACAAATTTTCTATATACCTTCCCTAATTTGTTTCTCCTTAGCACTTACATACAATCTCTAACATACTAAGTATTTCTCTTAGTATACTAACATACTTACATACAGTCTCTAACATACTAAGTATTTCTCTTATTTCTCTTAGTATTGCTTCTCTCCCTGACTCAAATATACACCCCATGAGATCAGAAGTTCTTTTCTTTCTCAGTTTTTAGAACAGGGATTCTTAACAGTTTTGCTTCTTTAGCGCTATCTTCAGTGCCTGCAATAGTGCCTGGCATGAAGTAGAAGCTCAAATAAGTACTTTGAATGACTAAGTAAATAAATGTCTTTGAAATAACTCTGCAAAGAAGGTGCTATTTAGTATCCCTGATTTATACATTAAAAACTATGGCTCAGAAAGTTAACTAATTTGTCCAAGGTCACAAAGC | ATAAAAATATAGAGAACATTTTTTAAAAGAGGAAGGGTCACTTATAAATTAATAGAGGCTTGAGGAACATATCAGTCAATTACAACATATGGAATATATTTTGATCCTGATTCAAACAAAATGTTACAGAATTTTTTGAGGCTCTCAAGGAAATTTGAAACTTACTAATAGTTGAGGTTATTAAGGAATTATTATAAAAATGGTATTGTAATTATGCTTTTTAAAAATATCTATTATAGATACATATTGAAATATTTACAGATAAAATGATGTCTAGATTCAAAATAATGGAGGGGAGGGGAGTGGTTGACAGTATAGATGAAGTAAGATGGTCATAACATAGTGATCATTGAAGCTGGGGGTGACAGGTCTGTGGCATATTATTATTCCTGCATTATATGTGTTTGAAATTTTCCATAAAAGACTTTTTAGTATAGATCAAAATATTGCCTTTTTAACTGATAAAGATGAATTTAGAGAGTGTGTTTTAAGTGTGCCACTTACGGGCTTCCTGCTGAACTCCTGCCTATTAGAATAGCTCACAGCAAAATTAAGTCTGGGGTCCTGAATTCAGTACCTGTGCAATTTCTGCCTTTGTCTTTGACCCAGTGCCCCTCCATGATCAGCCAGCCATCTTGCAAAGGTGAGTGATGGATACTGGGGAGGCAAGGCCAGGATAGTAGCCAGTCACCACTTCATCCTCACTCCTGGACAAGAATTCAGATCAGGCTGTAATCCCAGCACATGGGGAAGCTGAGGAGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAACGCTGTCTCTACTAAAAATACAAACATTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTTGCGGGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGGCACTGCACTCCAGCCTAGGTGACAGGGCGAGACTCCATCTAAAAAAAGAAAAGTTCAGATCATATGCCCTGTAAGGGAGGGTTGGCGGAAAGAATCCATGGTGTCATCTTTGTGCATTCAAGTGGTAAGTGGAAAATATTAACTAGTGGGGGACTATTACATAAGAAGAAAAATATAAAGATTAATCAGTGGAAATAAAAGTAGTAAAATCAGCATTTTTCAAAAAATGTAAACCAGTCACAGAGACCTCATGTACAGAAAGAATAAAACACAGGAAAGAAGCCAGGAGAACTGTGGAATATTATGTCATATTGCCACAAAAGTGAAGTGTGCCAAGAATACAGGGGATCGAATGGAGCCAAGGGTCCAACTGAGGCTGGATTGTGTATTCTTAAACGATGGTTGCCCTGCAATGGGGCCCTTCACCTCATGGTGATGGCATCATAATGAGACACACTGCAGTGATCAGTAGCAGAGCTGCTGATGGTCTAATTGGCTCCATCTAGGAGAAGATCTGAGAAAAATCTGGAGTTTCAGCAGCTAACAAATAAAATGAGGCCTGAAAGAGAAGAACTTGATAGATTTACTAAAAATGTAACACTCTGGAGTGCTTCTGCATATGGAGCTTCTCCGACTGACTTGGAGATTGGTGCAGATAATAAGCCATCTGGGGGCATGTCCTTACTGTCCCACCCATTCCTCCTGATGGCATTACTGTCTGAATACAACCTGAGCCTGGAAAAGGAGGAGGCCCATTCTCCTAGCAAGCCATATATTGGTTTGGAATAAAAACAATTATCCTCGCCTGCTACTTTGATTAGCCTCCCTACCCAGAAGATTAGTCCAGGCAAGAAAGCTGGGTGTCAACAACTTGACCACAAACAGTTGTAAGCTCATCTCCATGGAAACCATATAGTAACACAACTCAACTTTCCACAATGAGATGAGCCCTTAGGGCTGGAACAGTGACCAGCACAAATACTAACAACATGGACTGATTATCTGAGCGTGAGCACACACTACTGCTGTTTTTATTGGCTATTTCTCTTCTCTGGTTTTCAGGTCTATGAAACTGTCGGACACAGTAGTCCCACCTTGCTAGCAGAAGTGCAGAAGTGTTTCTGCCTATTCCTGAGACTACTGTTGTCACTGGAAGGGCTCCTACTGAAGAAGTGGAGTTTAGCAGTAATCAGCATGTGACACTGGACCACGAGGGAGTTGGAAGTGGTATGGAAAGCTAATATCTTCAATGGTTCACTGTTTCATTGTCAGATTTGAATGTGTATATATCTATTTCACTTCCCAGACAACCATAGAATTATAAAATTGATATCAAAAATTCAAATTCAAACAATGATGCTATGCAACTTTTTGCCAAGTTGCTTTTTATATACTGTTGGTGACAATGTAAGTGCATATAACTGTGCAACTATGAAGTAGTTTGGCAGTGTAAGTTGAGAACCTTGAAAATGACCTTTGGTGCCTTACTTTTATTTCTAGGAATCTTTCCTAAGAAAATAATTTGAAAGGAGGACAAACATGTATGCATAAAAATGTACATCACAGTGTTGTTCATAAGCCCAAAAAGTTTGAAATAATTATAACAGGGAGATTTTTAATTAATATTCTCTCATCTCCTTCTATAATTCCGATTGGATATATGATGGATCTTCTCACTCCTTCCTCCATGTTTCTTAACCTTTCTTCATTACCTTTGCTGTCTTTTTCTTTCACTGCTACAATCTATATAATTTCTTTAAATTTGTCCTCCAAGCCATGAATTCACTTTTTGGCTGTCTCTTATTATTGGAACTAATCCTTTCTGTTTTTCCTTCCAATTACTGTATATTTCAACTCTAGAAATTATGCTTAGTTCTTTCCCAATCAGTGTGGTCAGTTCTGACAGCTTTTTTTCCTTTCCTCAGACTCTCAATCATTTCTTTTATACATTCATTCATTCATTTAAATATATTTAAAATATTCTTAAATATTAGGTATCTGATCATTCCAATACCTATCTACTTATTGGTCTGATTCTGTTGCCTCTTGTTTATGGTGTCTTGCTTCCTCATGTGTCTGTTTTTTTATTGTGACTTATATCTGGAACTTTATTTGCATTATTTATTTAAGGCCGAATCCAATCCTCAGGTCCAGAGACTTAGGTTTTAGTTCCAGCTCTGATATTGGCAAGCTGTGAGACTCTGGTAGTCTTGTAACCTCTTTGCATATCATTTTCCTCATTTATAAAATGGATCTATTAATAGCTCCTTTAATGTCTTATAAGGTTATTTTGAAGATCAAGATAGGATGTTCAATATGAAGGAAAGATCTAGAGTTACTTCATTTAGTGCTTGAAAATCTTCTCCTTTAGTTGATTAAATAACTGCCCAGAGCGTTTTTACCATTAAATTCCCATCGGTAGAGGCCAAATCAGTGAGAGTTTACTGTAGCCACAACAGCTTAGTAATAATTAACATGTGTTGTGTGATCACTATTTGCCAGGCATTGTGTAAGTGCTTTGCAAATATTAACTTATTTAACTCCTGTTCCTCACGTCTGTCTTAGGGTGCTTGCACTTGTTCCTTCTGCCAGTAATGCTCTTTTCCAAAACAATACACCTCTACCTCCACTTCTTCATTTTCTTCAGCCATTTACTCAAAAGTCGCCTTCATTGAGGCTTTCCTGGCCACCCCTTCTAAAAGTTTATCCCCTCTCCACTCTCCAAAGCACAAATTTTCTATATACCTTCCCTAATTTGTTTCTCCTTAGCACTTACATACAATCTCTAACATACTAAGTATTTCTCTTAGTATACTAACATACTTACATACAGTCTCTAACATACTAAGTATTTCTCTTATTTCTCTTAGTATTGCTTCTCTCCCTGACTCAAATATACACCCCATGAGATCAGAAGTTCTTTTCTTTCTCAGTTTTTAGAACAGGGATTCTTAACAGTTTTGCTTCTTTAGCGCTATCTTCAGTGCCTGCAATAGTGCCTGGCATGAAGTAGAAGCTCAAATAAGTACTTTGAATGACTAAGTAAATAAATGTCTTTGAAATAACTCTGCAAAGAAGGTGCTATTTAGTATCCCTGATTTATACATTAAAAACTATGGCTCAGAAAGTTAACTAATTTGTCCAAGGT | pathogenic | 80,549 |
Determine whether the variant at chromosome 4, position 15555152, in gene CC2D2A (coiled-coil and C2 domain containing 2A) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['COACH_syndrome_2', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | TAGGCTCAGTCCCTCTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTATTCTTAAGGTAAAAACAAAAAATGTTTTATAATAACCTCTAGTCCAAAAAATTAAAATATTAATAGCCTAAGAAATATTAAGTGTTTATCGGTATTCGATACAGTGAAAAGAACTTAATCTTCACAGTAACTCTAGGAGGTATTCTCTCCCCTATTTTACAGATGGGGGAGATGCACAGCATCACAGTTGTATATATTTTGCCCTTAGTAAAGGTTTGTTGCTAATGATGATTGGTGTAGGATCTGCTGTTTACATGAAAGTCCCCATTCTCCAGCCTCCTCCCTTGATCGCTATATCCTTGAGTCTCTACTCAGAACAGAAGAAAGGCACTCTGGGCCTCACCCTAGGCCAGCCCCTCCCTGTGTTTGATGGTTGTCCCTGAAGCTTAGATTGTGGTAGCCCGTGGCCTGGGTCTTCCTCTGTCAGAGCCTCTCTCTGTCATTCCCCAGTAGATGTGTCTACAGTCAATCATTTCACCATTCCAGGCCTCAGTTGCCTCATCTCTAAAATAAAAGGATTCATTGTGATCATGAAGAAGACACTTTCCAAGTCACAGGCTGTCATGTTCAACTTATGGAAAAACAGAATTGGGCTCGTTTAGTTCCCTTGATGCCTTCAATCCCCATAACGACCACACATGTCCATGTGATAAAAACCACAAGGAGATGCTGCTATTTGCTTTCTAAGTCAGAAGCCACTTCCAGTGGAGGCCTGACTATGCCTTTGAATGTAAGAAGTCTGCATTCATTTCACTTGCATTTAGTGCTAGAAAAATCTCCTGGGGAGTAAAGCTTTCAACTCCTCAGAATAGAAGGTAAAACACAATGTGAGTAACAAGATATGCAGGACTATTAATAAAGCCCCAGCTCAACCTTGCTGACTACTGTGGCTTCCTTTGATCTCCAGGTGTCCAAAGCTGGTGCTTAAGTTTGTTGTTTAGTAGTTGGTTTTAGGCTGGGCACGGTGGCTCACGTCCATTATCCGACTATTTTGGGAGGCCGAGGCAGGCAGATCACATGAGGTCAGGAGTTTGAGACCAGCCTAGCCAACATGGCAAAACCCCATCTCTACTAAAAAAAATAATAAAATTAGCTGGGCATGGTGGCGCATGCCTGCAATCCCAGCTACTTGGGTGGCTCAGGCATGAGAATCATTTGAACCTAGCAAGTAGAGGTTGCAGTGAGCTGAAATCGCACCACTGCGCTCTAGCCTGGCCGACAGAGCAAGACTGTCTCAAAAAAAAGAGTTGGTTTTGTTTCTTTTTCTTTTGGTTTGTCCTCAGCTATAGTGGGCCCCAGTGGCCTGGGATGTGAGGCTTTGTGGGCTTCCAGCACCAGATACAGAGGCCCCTCTTCACTGGCCAGAATCCAGGGACCAAGGGGCACTTTTATGCACTGGACAGAGTTGTAGGAATTAGTCATATCTGCAGTCCTTCCATTCCTGTTTCTTTATTGTCCTTATGTTTAATAGCCATCATCATGTAAAGAAAAATGACAAAATCCTTCCTTATGATAACATTTTCTCTCATGGAGGATAATAGCTTCCTCAAGTCATGCTGTCTCTAGAATTTGAGGTCCTGATGCAAACTGTTCTGTGGTCAAGTCAGTCTCATGGAATCAACTCTTCTTTTCAGTGCTTTGAAGAAAGCAGATGCCATCTCATCTATTGGCACATCAGGACTGACAGACATGAAAAAATTGGCCAAGTGGGCAGCAGAGTCCAAGCTCGACCCAAATGACCCCAACAATGCCCCTTTGATGCAGCTTATCTCGGTATGTAGCAGGAGGCACACATGCCATTTCTTGACTTGGCCTTTTACACAATTTTCCTTTACACTATCTTCTCCTATGCAATACTGTTTAAGAACATGGGTGCTGGGTTGAATGCCAAGTTTGAATTCCAGCTGTGCTTCTTGCCTGGCTATGGGACCCAGGCAAGTATTCAGTGCTTCTAAGCCCTGTGCTGCTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAG | TAGGCTCAGTCCCTCTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTATTCTTAAGGTAAAAACAAAAAATGTTTTATAATAACCTCTAGTCCAAAAAATTAAAATATTAATAGCCTAAGAAATATTAAGTGTTTATCGGTATTCGATACAGTGAAAAGAACTTAATCTTCACAGTAACTCTAGGAGGTATTCTCTCCCCTATTTTACAGATGGGGGAGATGCACAGCATCACAGTTGTATATATTTTGCCCTTAGTAAAGGTTTGTTGCTAATGATGATTGGTGTAGGATCTGCTGTTTACATGAAAGTCCCCATTCTCCAGCCTCCTCCCTTGATCGCTATATCCTTGAGTCTCTACTCAGAACAGAAGAAAGGCACTCTGGGCCTCACCCTAGGCCAGCCCCTCCCTGTGTTTGATGGTTGTCCCTGAAGCTTAGATTGTGGTAGCCCGTGGCCTGGGTCTTCCTCTGTCAGAGCCTCTCTCTGTCATTCCCCAGTAGATGTGTCTACAGTCAATCATTTCACCATTCCAGGCCTCAGTTGCCTCATCTCTAAAATAAAAGGATTCATTGTGATCATGAAGAAGACACTTTCCAAGTCACAGGCTGTCATGTTCAACTTATGGAAAAACAGAATTGGGCTCGTTTAGTTCCCTTGATGCCTTCAATCCCCATAACGACCACACATGTCCATGTGATAAAAACCACAAGGAGATGCTGCTATTTGCTTTCTAAGTCAGAAGCCACTTCCAGTGGAGGCCTGACTATGCCTTTGAATGTAAGAAGTCTGCATTCATTTCACTTGCATTTAGTGCTAGAAAAATCTCCTGGGGAGTAAAGCTTTCAACTCCTCAGAATAGAAGGTAAAACACAATGTGAGTAACAAGATATGCAGGACTATTAATAAAGCCCCAGCTCAACCTTGCTGACTACTGTGGCTTCCTTTGATCTCCAGGTGTCCAAAGCTGGTGCTTAAGTTTGTTGTTTAGTAGTTGGTTTTAGGCTGGGCACGGTGGCTCACGTCCATTATCCGACTATTTTGGGAGGCCGAGGCAGGCAGATCACATGAGGTCAGGAGTTTGAGACCAGCCTAGCCAACATGGCAAAACCCCATCTCTACTAAAAAAAATAATAAAATTAGCTGGGCATGGTGGCGCATGCCTGCAATCCCAGCTACTTGGGTGGCTCAGGCATGAGAATCATTTGAACCTAGCAAGTAGAGGTTGCAGTGAGCTGAAATCGCACCACTGCGCTCTAGCCTGGCCGACAGAGCAAGACTGTCTCAAAAAAAAGAGTTGGTTTTGTTTCTTTTTCTTTTGGTTTGTCCTCAGCTATAGTGGGCCCCAGTGGCCTGGGATGTGAGGCTTTGTGGGCTTCCAGCACCAGATACAGAGGCCCCTCTTCACTGGCCAGAATCCAGGGACCAAGGGGCACTTTTATGCACTGGACAGAGTTGTAGGAATTAGTCATATCTGCAGTCCTTCCATTCCTGTTTCTTTATTGTCCTTATGTTTAATAGCCATCATCATGTAAAGAAAAATGACAAAATCCTTCCTTATGATAACATTTTCTCTCATGGAGGATAATAGCTTCCTCAAGTCATGCTGTCTCTAGAATTTGAGGTCCTGATGCAAACTGTTCTGTGGTCAAGTCAGTCTCATGGAATCAACTCTTCTTTTCAGTGCTTTGAAGAAAGCAGATGCCATCTCATCTATTGGCACATCAGGACTGACAGACATGAAAAAATTGGCCAAGTGGGCAGCGAGTCCAAGCTCGACCCAAATGACCCCAACAATGCCCCTTTGATGCAGCTTATCTCGGTATGTAGCAGGAGGCACACATGCCATTTCTTGACTTGGCCTTTTACACAATTTTCCTTTACACTATCTTCTCCTATGCAATACTGTTTAAGAACATGGGTGCTGGGTTGAATGCCAAGTTTGAATTCCAGCTGTGCTTCTTGCCTGGCTATGGGACCCAGGCAAGTATTCAGTGCTTCTAAGCCCTGTGCTGCTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGN | pathogenic | 80,554 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 4, position 15559262, gene CC2D2A (coiled-coil and C2 domain containing 2A). What disease(s) is it linked to if pathogenic? | benign | ACTGTTAAATGTTCCTTGACACTCAGTGCCAAGTTTCTTTGGATGAGATCTGACTGTCATCTGGAGTTTTGCATTTTCCGTTTTTTATAGGTTGCTACCAGTGGTGAATCCTATGTCCCTGATTTCTTTAGACTGGAGCAGCTGCAACAGGAGTTTAACTTTGTTTCAGATCAAGAATTAAATAGATCCAAACGATTTAGGCTTCTTCATCTTAGAAGCCAAGAGGTGCCAGAATTCCGAAATTATAAGCAAGTTCCAGTCTATGACCGAGAAATTATGGAAAAGGTATTCCAGGTAAGAAACTGCCATAGAGGGGTTAATAAAATAATAAAGTACCTACTGTGCTGTTAGGTATACTACTGTATATGTATTTTGTTTTTGTTATGTTGTCACTAGCAATAGCGGTTTCTCTTTTATTTCACTTTTATACATAACCTTTCCATGCTTTTTCTTGAATTCACCATTTAAATAATCTCTCTGCCTCAATATAATGATATATAAACTAATCAGTAACCAGGATTCTGAGTCAACTGAACTGCATACAATTAGAATTGTAGGGTTGAAAAATATCTTAGAGGTTAATATGGCTAATAATATGGCTAGTTAATTATTAACATGGCTAATTATTGAATGCCTTAGTCAGGAATTCAATTCCATTTTAATGCAGTATGTACTAAGTGTCATGTACTCAGCACACTGGTAAAGCACTACAGGGAAAACTAGAGGGATAGGATCTGAATAGCCATGGGATGGGTGGGGCATGAAGGAGGTAAAGGAACAGGGCTGGGCATCCATCCTGGTCAAGGGCAGCAGGAGGAACAAAGACTCAGAGGAGGGCAGATCGCACCTCCAGGTGTGGGGTGGAGGAGCCTTTGAGGAACTGCAGGTAACAGGCCTGTGTAGGTGGGGCAGGCCAGTGAAACCAGATGCATGCACTTTTTTTTTCTTTTTCCCTGCTTTTCATGAGCTGTAGACACATGCACTTTTATTAATACTTAACAAGGTAAATGGAGAGCCATCAGGAATTAGTACCAGGAAGATTTTTCATGGCAAAACTATTCTTGAAGAATATGGTTGGTTATTTGGTTCTTCTCTGTATTAGTTTGGACTTTGATCACAGGAGATAAAAGCCAATTTTGAACTACCTTAGGCACCAAGGGGAGTTTACTGGATGATGAAATCTCAAAATAGCATTAAATATCTAAAAACGTGTGAATGGCATGAGTGCATCTGTGCCTGGCCTGCTACCAGGACCCTTCTCCATCCTCTCTAGGCTTCTTTGATGTGTTGGCATCATGCTCCTCCTTTGCAGACAGGTTTTCTCTACTTGACCACATGGTCACCAACATCATACAAGTTCACATCTAGTATCTTCAGCCAGCAGAGGTGTGTCCCCCGAGCCTGAGTTAGGTACCACTACCAGGCATTCAACTGTGACCAAAGAGTGGGATTAGAGGAGAACATAGCAGTTCCCAGGGCACACACATAATTTTGTTGACAGAAAAGGGGAGAGGCCTGAGCAGACAAAGCCAGATGTATGCATCACTCTCCTCCAAGCAGATGACCTGGCTCAGCTACAGCCAGATGTTATATGATTATGGTAATGTGTTAACTGAAACTTTACTTAAAACAGAAAAGGCAAAACTTAAGCAGGAGCTTTGGCTAAATTGCTTGGAAGAGCTTCTCTGTGGCCTCTATTTCTTCCTGACTTAACGTTTTAACTTGTAACTACTATACAGAATTCTCTTCTACTAGTAAGGCATTTCAGCCACCTGTCTCAGAATCCTGGTTACTCTATCAAAGACCAATTCTGAACCAAAAGTTAGGAAGAAGGTGGAAGAAATATTTAAAACCACAAGTTATAACTTAAATCATATGTGATAAATAATTACCTGATCTTAAGAAAAGCACCAGAGAGTGCTTTAAAATCATTGCCTCTTTTTAATTTTAGGACTATGAGAAACGGTTACGAGACAGAAATGTAATAGAAACCAAGGAACACATAGACACCCATAGGGCCATAGTAGCCAAGTACCTCCAGCAGGTAAGAAAAATCATATAAAACTGTCTTCATAGGGAGAAAAGAGCCAGCACCCTAAGGTGGAAAGTCCTCTACTCTTTTAAATATCTATGTGAGCTTATGCAAGCCACTTAGCTTGCATAAATTTCCTCATAAACACAAATATATAATTGATTGACAACTATCATCACCTTTCAAATATATGAAACAACCAGGCTATGTTCTGGTTTATTATCAGCAGTTACCTTTTAATGGGTCATGATTACAAGGGATTCAATTTCTAAGTCATGTTTTTTCTAATATTTGAATGTTGCATTGCGTTACAATGATTACCTTTGTAATCAGAAAAAAACAAAAGTTTTTAAACCATATACTAACTGCCCTTATGCACTAGAAAACTAAAAATTAAAGCTGAAACATCCTTTCGTTTGTCCTTTTTCCTTCTTTCCTTCCTTCCTTCAATAAACTTAACTTGCCACAAATGCTAAGTGACTACAGTGCATTTTCCCCATCCAGTGTTATCTACCCTGTGGCTCATGTATTATTTTTTAAAATGAATTATTTAAGAGGTTATTTATTTATTTATTTATTTATTTTTATATATTTGAGACAGGGGGCTGGTTGGCTTTGTCGCCCAGGCTGAAGTGCAGTAGTGTAGTGTGATCTCAGTTCACTCTAACGTCCACCTCCCGGGCTCAAGCCATCCTCCCACCTCAGCCTCTCGAATAGCCAGGACTACAGGTACACACCACCATGCCTGGCTAATTTTTATATTTTTTGTAGAGATGGGGTTTTGCCACGTGCCCCAGGCTAGTCTCGAACTCCTGAGCTCAAGCAATCCACCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCAGAGGTCCTCTGGAATTAGGAAGTGAATCATTCTGGATAAGGGAATAACTTAAGAATCAGTTCTTAAGTATGTGTGTTTTGAGACTGGCCCTATTTTTTGTAATGGTTAATTCATTATTTCAGCAAATTTTGCCATCTTATATGCCGGGAACTTTACCAGGAACTCCAATATTGCAGTAAGCAAAACAGGAAAACCCCTGACTTTAGGGAGCTTACAGTCTAGTACAGAAAGCTAGAGGGTTTACAGCAAGAGGAGACCAGCATTGCAGAGGAAAGTAACAGTTGGGCTGGAGGACTGGGGGGACACTGAGATGACATTAGGGTAAAAACTTAGAGTGTGGAGAGTGAACTACGAAGTTTAAATAATAACATTTTAAATAAGCTGATTTCTTTCCCCAGGTTAGAGAATCAGTGATAAATCGTTTCTTAATTGCAAAACAATATTTTCTTCTTGCTGATATGATAGTAGAAGAAGAAGTTCCCAATATCAGGTAAAAATAATCAAAGCCATTATTATCAATTCTTATAAAAATTATTATTTATACTCTATTATATGAAAGGTATCATATAAGATTTTTAAAAATCATCGTATGGTATGCATTTGGGCCAGGAATAATGTGTTAAACCTGGTTAATACCTGATGATGACATTAGTTGAGGGATTTCTACTAGAACAAGTCTTCCTAGGGCCTCTCCCATTGCATTCCAACAAACCCCATCTCACCTCCCCTACTTCCAAATCAACTTCATTAGCCTTTGCCATTTTCTCATTCCCGTTGAACTAAACCTGACAGCATTTCCCTCCTGCAAGTACTTCTCCTGTTTTCCTAGTCTCCCAGTGCCAGACATTCCCTTACTCTCCTGTCGCATGGCAGTAGAGGTGGCTGAGACCCCACCCACAAGCTTCTGGGGTGGACGAGGAAACCTGGTTGCAGCACCACAGCTGGTGGGCAGAGAGCTGGTGCATGTGCTTGGTGAGAGTGTAGAACAGCAGGAAAGATTTGATATTCACACAGATATTGGGAATTGACTGTATTTGCTTGATTGACTCATTAGTTTGGATAATTGTCAAATGGCTTCAACTAGGGGTGTGGATATAGAAAAGATGAAAGATAATTTCCCATACTGGTGGTCTTGTGCAGGCCACATGACCTTTTCTGTGATTAAGTCTCTTGGTCT | ACTGTTAAATGTTCCTTGACACTCAGTGCCAAGTTTCTTTGGATGAGATCTGACTGTCATCTGGAGTTTTGCATTTTCCGTTTTTTATAGGTTGCTACCAGTGGTGAATCCTATGTCCCTGATTTCTTTAGACTGGAGCAGCTGCAACAGGAGTTTAACTTTGTTTCAGATCAAGAATTAAATAGATCCAAACGATTTAGGCTTCTTCATCTTAGAAGCCAAGAGGTGCCAGAATTCCGAAATTATAAGCAAGTTCCAGTCTATGACCGAGAAATTATGGAAAAGGTATTCCAGGTAAGAAACTGCCATAGAGGGGTTAATAAAATAATAAAGTACCTACTGTGCTGTTAGGTATACTACTGTATATGTATTTTGTTTTTGTTATGTTGTCACTAGCAATAGCGGTTTCTCTTTTATTTCACTTTTATACATAACCTTTCCATGCTTTTTCTTGAATTCACCATTTAAATAATCTCTCTGCCTCAATATAATGATATATAAACTAATCAGTAACCAGGATTCTGAGTCAACTGAACTGCATACAATTAGAATTGTAGGGTTGAAAAATATCTTAGAGGTTAATATGGCTAATAATATGGCTAGTTAATTATTAACATGGCTAATTATTGAATGCCTTAGTCAGGAATTCAATTCCATTTTAATGCAGTATGTACTAAGTGTCATGTACTCAGCACACTGGTAAAGCACTACAGGGAAAACTAGAGGGATAGGATCTGAATAGCCATGGGATGGGTGGGGCATGAAGGAGGTAAAGGAACAGGGCTGGGCATCCATCCTGGTCAAGGGCAGCAGGAGGAACAAAGACTCAGAGGAGGGCAGATCGCACCTCCAGGTGTGGGGTGGAGGAGCCTTTGAGGAACTGCAGGTAACAGGCCTGTGTAGGTGGGGCAGGCCAGTGAAACCAGATGCATGCACTTTTTTTTTCTTTTTCCCTGCTTTTCATGAGCTGTAGACACATGCACTTTTATTAATACTTAACAAGGTAAATGGAGAGCCATCAGGAATTAGTACCAGGAAGATTTTTCATGGCAAAACTATTCTTGAAGAATATGGTTGGTTATTTGGTTCTTCTCTGTATTAGTTTGGACTTTGATCACAGGAGATAAAAGCCAATTTTGAACTACCTTAGGCACCAAGGGGAGTTTACTGGATGATGAAATCTCAAAATAGCATTAAATATCTAAAAACGTGTGAATGGCATGAGTGCATCTGTGCCTGGCCTGCTACCAGGACCCTTCTCCATCCTCTCTAGGCTTCTTTGATGTGTTGGCATCATGCTCCTCCTTTGCAGACAGGTTTTCTCTACTTGACCACATGGTCACCAACATCATACAAGTTCACATCTAGTATCTTCAGCCAGCAGAGGTGTGTCCCCCGAGCCTGAGTTAGGTACCACTACCAGGCATTCAACTGTGACCAAAGAGTGGGATTAGAGGAGAACATAGCAGTTCCCAGGGCACACACATAATTTTGTTGACAGAAAAGGGGAGAGGCCTGAGCAGACAAAGCCAGATGTATGCATCACTCTCCTCCAAGCAGATGACCTGGCTCAGCTACAGCCAGATGTTATATGATTATGGTAATGTGTTAACTGAAACTTTACTTAAAACAGAAAAGGCAAAACTTAAGCAGGAGCTTTGGCTAAATTGCTTGGAAGAGCTTCTCTGTGGCCTCTATTTCTTCCTGACTTAACGTTTTAACTTGTAACTACTATACAGAATTCTCTTCTACTAGTAAGGCATTTCAGCCACCTGTCTCAGAATCCTGGTTACTCTATCAAAGACCAATTCTGAACCAAAAGTTAGGAAGAAGGTGGAAGAAATATTTAAAACCACAAGTTATAACTTAAATCATATGTGATAAATAATTACCTGATCTTAAGAAAAGCACCAGAGAGTGCTTTAAAATCATTGCCTCTTTTTAATTTTAGGACTATGAGAAACGGTTACGAGACAGAAATGTAATAGAAACCAAGGAACACATAGACACCCATAGGGCCATAGTAGCCAAGTACCTCCAGCAGGTAAGAAAAAATCATATAAAACTGTCTTCATAGGGAGAAAAGAGCCAGCACCCTAAGGTGGAAAGTCCTCTACTCTTTTAAATATCTATGTGAGCTTATGCAAGCCACTTAGCTTGCATAAATTTCCTCATAAACACAAATATATAATTGATTGACAACTATCATCACCTTTCAAATATATGAAACAACCAGGCTATGTTCTGGTTTATTATCAGCAGTTACCTTTTAATGGGTCATGATTACAAGGGATTCAATTTCTAAGTCATGTTTTTTCTAATATTTGAATGTTGCATTGCGTTACAATGATTACCTTTGTAATCAGAAAAAAACAAAAGTTTTTAAACCATATACTAACTGCCCTTATGCACTAGAAAACTAAAAATTAAAGCTGAAACATCCTTTCGTTTGTCCTTTTTCCTTCTTTCCTTCCTTCCTTCAATAAACTTAACTTGCCACAAATGCTAAGTGACTACAGTGCATTTTCCCCATCCAGTGTTATCTACCCTGTGGCTCATGTATTATTTTTTAAAATGAATTATTTAAGAGGTTATTTATTTATTTATTTATTTATTTTTATATATTTGAGACAGGGGGCTGGTTGGCTTTGTCGCCCAGGCTGAAGTGCAGTAGTGTAGTGTGATCTCAGTTCACTCTAACGTCCACCTCCCGGGCTCAAGCCATCCTCCCACCTCAGCCTCTCGAATAGCCAGGACTACAGGTACACACCACCATGCCTGGCTAATTTTTATATTTTTTGTAGAGATGGGGTTTTGCCACGTGCCCCAGGCTAGTCTCGAACTCCTGAGCTCAAGCAATCCACCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCAGAGGTCCTCTGGAATTAGGAAGTGAATCATTCTGGATAAGGGAATAACTTAAGAATCAGTTCTTAAGTATGTGTGTTTTGAGACTGGCCCTATTTTTTGTAATGGTTAATTCATTATTTCAGCAAATTTTGCCATCTTATATGCCGGGAACTTTACCAGGAACTCCAATATTGCAGTAAGCAAAACAGGAAAACCCCTGACTTTAGGGAGCTTACAGTCTAGTACAGAAAGCTAGAGGGTTTACAGCAAGAGGAGACCAGCATTGCAGAGGAAAGTAACAGTTGGGCTGGAGGACTGGGGGGACACTGAGATGACATTAGGGTAAAAACTTAGAGTGTGGAGAGTGAACTACGAAGTTTAAATAATAACATTTTAAATAAGCTGATTTCTTTCCCCAGGTTAGAGAATCAGTGATAAATCGTTTCTTAATTGCAAAACAATATTTTCTTCTTGCTGATATGATAGTAGAAGAAGAAGTTCCCAATATCAGGTAAAAATAATCAAAGCCATTATTATCAATTCTTATAAAAATTATTATTTATACTCTATTATATGAAAGGTATCATATAAGATTTTTAAAAATCATCGTATGGTATGCATTTGGGCCAGGAATAATGTGTTAAACCTGGTTAATACCTGATGATGACATTAGTTGAGGGATTTCTACTAGAACAAGTCTTCCTAGGGCCTCTCCCATTGCATTCCAACAAACCCCATCTCACCTCCCCTACTTCCAAATCAACTTCATTAGCCTTTGCCATTTTCTCATTCCCGTTGAACTAAACCTGACAGCATTTCCCTCCTGCAAGTACTTCTCCTGTTTTCCTAGTCTCCCAGTGCCAGACATTCCCTTACTCTCCTGTCGCATGGCAGTAGAGGTGGCTGAGACCCCACCCACAAGCTTCTGGGGTGGACGAGGAAACCTGGTTGCAGCACCACAGCTGGTGGGCAGAGAGCTGGTGCATGTGCTTGGTGAGAGTGTAGAACAGCAGGAAAGATTTGATATTCACACAGATATTGGGAATTGACTGTATTTGCTTGATTGACTCATTAGTTTGGATAATTGTCAAATGGCTTCAACTAGGGGTGTGGATATAGAAAAGATGAAAGATAATTTCCCATACTGGTGGTCTTGTGCAGGCCACATGACCTTTTCTGTGATTAAGTCTCTTGGTC | benign | 80,569 |
Considering the genetic mutation at chromosome 4, position 15560607, impacting CC2D2A (coiled-coil and C2 domain containing 2A): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_and_related_disorders', 'Meckel-Gruber_syndrome'] | ACATCATACAAGTTCACATCTAGTATCTTCAGCCAGCAGAGGTGTGTCCCCCGAGCCTGAGTTAGGTACCACTACCAGGCATTCAACTGTGACCAAAGAGTGGGATTAGAGGAGAACATAGCAGTTCCCAGGGCACACACATAATTTTGTTGACAGAAAAGGGGAGAGGCCTGAGCAGACAAAGCCAGATGTATGCATCACTCTCCTCCAAGCAGATGACCTGGCTCAGCTACAGCCAGATGTTATATGATTATGGTAATGTGTTAACTGAAACTTTACTTAAAACAGAAAAGGCAAAACTTAAGCAGGAGCTTTGGCTAAATTGCTTGGAAGAGCTTCTCTGTGGCCTCTATTTCTTCCTGACTTAACGTTTTAACTTGTAACTACTATACAGAATTCTCTTCTACTAGTAAGGCATTTCAGCCACCTGTCTCAGAATCCTGGTTACTCTATCAAAGACCAATTCTGAACCAAAAGTTAGGAAGAAGGTGGAAGAAATATTTAAAACCACAAGTTATAACTTAAATCATATGTGATAAATAATTACCTGATCTTAAGAAAAGCACCAGAGAGTGCTTTAAAATCATTGCCTCTTTTTAATTTTAGGACTATGAGAAACGGTTACGAGACAGAAATGTAATAGAAACCAAGGAACACATAGACACCCATAGGGCCATAGTAGCCAAGTACCTCCAGCAGGTAAGAAAAATCATATAAAACTGTCTTCATAGGGAGAAAAGAGCCAGCACCCTAAGGTGGAAAGTCCTCTACTCTTTTAAATATCTATGTGAGCTTATGCAAGCCACTTAGCTTGCATAAATTTCCTCATAAACACAAATATATAATTGATTGACAACTATCATCACCTTTCAAATATATGAAACAACCAGGCTATGTTCTGGTTTATTATCAGCAGTTACCTTTTAATGGGTCATGATTACAAGGGATTCAATTTCTAAGTCATGTTTTTTCTAATATTTGAATGTTGCATTGCGTTACAATGATTACCTTTGTAATCAGAAAAAAACAAAAGTTTTTAAACCATATACTAACTGCCCTTATGCACTAGAAAACTAAAAATTAAAGCTGAAACATCCTTTCGTTTGTCCTTTTTCCTTCTTTCCTTCCTTCCTTCAATAAACTTAACTTGCCACAAATGCTAAGTGACTACAGTGCATTTTCCCCATCCAGTGTTATCTACCCTGTGGCTCATGTATTATTTTTTAAAATGAATTATTTAAGAGGTTATTTATTTATTTATTTATTTATTTTTATATATTTGAGACAGGGGGCTGGTTGGCTTTGTCGCCCAGGCTGAAGTGCAGTAGTGTAGTGTGATCTCAGTTCACTCTAACGTCCACCTCCCGGGCTCAAGCCATCCTCCCACCTCAGCCTCTCGAATAGCCAGGACTACAGGTACACACCACCATGCCTGGCTAATTTTTATATTTTTTGTAGAGATGGGGTTTTGCCACGTGCCCCAGGCTAGTCTCGAACTCCTGAGCTCAAGCAATCCACCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCAGAGGTCCTCTGGAATTAGGAAGTGAATCATTCTGGATAAGGGAATAACTTAAGAATCAGTTCTTAAGTATGTGTGTTTTGAGACTGGCCCTATTTTTTGTAATGGTTAATTCATTATTTCAGCAAATTTTGCCATCTTATATGCCGGGAACTTTACCAGGAACTCCAATATTGCAGTAAGCAAAACAGGAAAACCCCTGACTTTAGGGAGCTTACAGTCTAGTACAGAAAGCTAGAGGGTTTACAGCAAGAGGAGACCAGCATTGCAGAGGAAAGTAACAGTTGGGCTGGAGGACTGGGGGGACACTGAGATGACATTAGGGTAAAAACTTAGAGTGTGGAGAGTGAACTACGAAGTTTAAATAATAACATTTTAAATAAGCTGATTTCTTTCCCCAGGTTAGAGAATCAGTGATAAATCGTTTCTTAATTGCAAAACAATATTTTCTTCTTGCTGATATGATAGTAGAAGAAGAAGTTCCCAATATCAGGTAAAAATAATCAAAGCCATTATTATCAATTCTTATAAAAATTATTATTTATACTCTATTATATGAAAGGTATCATATAAGATTTTTAAAAATCATCGTATGGTATGCATTTGGGCCAGGAATAATGTGTTAAACCTGGTTAATACCTGATGATGACATTAGTTGAGGGATTTCTACTAGAACAAGTCTTCCTAGGGCCTCTCCCATTGCATTCCAACAAACCCCATCTCACCTCCCCTACTTCCAAATCAACTTCATTAGCCTTTGCCATTTTCTCATTCCCGTTGAACTAAACCTGACAGCATTTCCCTCCTGCAAGTACTTCTCCTGTTTTCCTAGTCTCCCAGTGCCAGACATTCCCTTACTCTCCTGTCGCATGGCAGTAGAGGTGGCTGAGACCCCACCCACAAGCTTCTGGGGTGGACGAGGAAACCTGGTTGCAGCACCACAGCTGGTGGGCAGAGAGCTGGTGCATGTGCTTGGTGAGAGTGTAGAACAGCAGGAAAGATTTGATATTCACACAGATATTGGGAATTGACTGTATTTGCTTGATTGACTCATTAGTTTGGATAATTGTCAAATGGCTTCAACTAGGGGTGTGGATATAGAAAAGATGAAAGATAATTTCCCATACTGGTGGTCTTGTGCAGGCCACATGACCTTTTCTGTGATTAAGTCTCTTGGTCTCCTAAAAAGGTTTTTTCTATGCATATACTTTCTCTCCACCATCAAGTTGGGAAGGAGACAAAAAAAATGTGCAATCCATAGCAGCCCCTTTCCACATATAGAAAGGAGGCTACACCCACATAAATCCATGCAAAACCTCTCTCTCTATTCCAGGCCCACAGTCCAGTCATTGAATGTTTTCAAAGTCATGAAAATTACACTTAGAATAGATGATGATTTTTCATATTGTTTTTTTTTTCTTTTCCTTCCTTTTTTTCTGCTTTACTTTCTGCATTAAGTTCTGAAGGCTCAGGGTATGTTCTTTCTTCTTTTAATTTCAGTTCCTTCTTGGCTTTAAGATGTTTCTGTATTTGATGGTCCTGGCTGACATGGTGCTCCCATGCTGACTGCTATGGAGACATCAAAGTCTCAGGGAGGACTTACCTCCAGGGGAGGGAGGAAGCATTGACAATGGAAGAGTGTTGTCATGTTAGGACCTCTAACAAAGTTCTGTCTCTGAGGCCCCCTAGTTTGGGTTAGGTAGGTGTCCTGGCAGAGTGATTAAAAACATGAGCTATATAGTCACAGTGACCTGAGTTTGAACCCCTGCTCTCCCTCCTACTACTAAGGAACCTTCAGCAAATCATAACACCTCTCGTAGCCTCTAATTTCTTCATCTGAAATACAGGGTAAATATTATATGCGTAAAGATTAGAAATGTTATATGTAAGGCACCCAGCACTCTTCTCAATACATAGGAGGTGCTTATAAATGGTAGCTATTTTGTGTAAAACCTTGGAGAATAAACAGGAACAACAGCTCCTGGAATCCTGGAACTTCCTTGGGTTTCCTTATAGGAGCTGTCAGCAGCGCCTAGACAGGAGCTGCAGAGACCTCAGCCTCAGCTGGCATGTGCCTCTTGCAAAGAGGGGCTCCAGTCAAGAGGTCACTTAGCCAGCTCTGATCCTCAGGAAGGAAGCAGAGAACCATGTGCATTATAGCCTGTGGCCAGCTCTGCAAAGCTGGCTTTGTTCTTTGGCTGTTTCACACAGCCATTAACATCAGCTTCCAGATACAGTCACATCTTTGTTTCTGTTTAGTTTCTGGGCCAGAATTTATTTGGTCCATGAACGTTTCTCCTATGATTCACTGACTCTGTTGCTTTCATCTTACAGGAAGTGTTTCTTGCATATCATCTCCGTGAAAGGTAGAGACATGAGAGAAGGAGTCTCTTGCTTCTCCCCTAACCCCTTCCTCCTCCCTATACCTCCTCCTCTTCTTCCACCTTAATCACTGGCATCAACCCAATAGTTACCATTTTAGGACATCTACTAAGTGCTAGAGCAGTGTCAGGGTGCTTTACACA | ACATCATACAAGTTCACATCTAGTATCTTCAGCCAGCAGAGGTGTGTCCCCCGAGCCTGAGTTAGGTACCACTACCAGGCATTCAACTGTGACCAAAGAGTGGGATTAGAGGAGAACATAGCAGTTCCCAGGGCACACACATAATTTTGTTGACAGAAAAGGGGAGAGGCCTGAGCAGACAAAGCCAGATGTATGCATCACTCTCCTCCAAGCAGATGACCTGGCTCAGCTACAGCCAGATGTTATATGATTATGGTAATGTGTTAACTGAAACTTTACTTAAAACAGAAAAGGCAAAACTTAAGCAGGAGCTTTGGCTAAATTGCTTGGAAGAGCTTCTCTGTGGCCTCTATTTCTTCCTGACTTAACGTTTTAACTTGTAACTACTATACAGAATTCTCTTCTACTAGTAAGGCATTTCAGCCACCTGTCTCAGAATCCTGGTTACTCTATCAAAGACCAATTCTGAACCAAAAGTTAGGAAGAAGGTGGAAGAAATATTTAAAACCACAAGTTATAACTTAAATCATATGTGATAAATAATTACCTGATCTTAAGAAAAGCACCAGAGAGTGCTTTAAAATCATTGCCTCTTTTTAATTTTAGGACTATGAGAAACGGTTACGAGACAGAAATGTAATAGAAACCAAGGAACACATAGACACCCATAGGGCCATAGTAGCCAAGTACCTCCAGCAGGTAAGAAAAATCATATAAAACTGTCTTCATAGGGAGAAAAGAGCCAGCACCCTAAGGTGGAAAGTCCTCTACTCTTTTAAATATCTATGTGAGCTTATGCAAGCCACTTAGCTTGCATAAATTTCCTCATAAACACAAATATATAATTGATTGACAACTATCATCACCTTTCAAATATATGAAACAACCAGGCTATGTTCTGGTTTATTATCAGCAGTTACCTTTTAATGGGTCATGATTACAAGGGATTCAATTTCTAAGTCATGTTTTTTCTAATATTTGAATGTTGCATTGCGTTACAATGATTACCTTTGTAATCAGAAAAAAACAAAAGTTTTTAAACCATATACTAACTGCCCTTATGCACTAGAAAACTAAAAATTAAAGCTGAAACATCCTTTCGTTTGTCCTTTTTCCTTCTTTCCTTCCTTCCTTCAATAAACTTAACTTGCCACAAATGCTAAGTGACTACAGTGCATTTTCCCCATCCAGTGTTATCTACCCTGTGGCTCATGTATTATTTTTTAAAATGAATTATTTAAGAGGTTATTTATTTATTTATTTATTTATTTTTATATATTTGAGACAGGGGGCTGGTTGGCTTTGTCGCCCAGGCTGAAGTGCAGTAGTGTAGTGTGATCTCAGTTCACTCTAACGTCCACCTCCCGGGCTCAAGCCATCCTCCCACCTCAGCCTCTCGAATAGCCAGGACTACAGGTACACACCACCATGCCTGGCTAATTTTTATATTTTTTGTAGAGATGGGGTTTTGCCACGTGCCCCAGGCTAGTCTCGAACTCCTGAGCTCAAGCAATCCACCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCAGAGGTCCTCTGGAATTAGGAAGTGAATCATTCTGGATAAGGGAATAACTTAAGAATCAGTTCTTAAGTATGTGTGTTTTGAGACTGGCCCTATTTTTTGTAATGGTTAATTCATTATTTCAGCAAATTTTGCCATCTTATATGCCGGGAACTTTACCAGGAACTCCAATATTGCAGTAAGCAAAACAGGAAAACCCCTGACTTTAGGGAGCTTACAGTCTAGTACAGAAAGCTAGAGGGTTTACAGCAAGAGGAGACCAGCATTGCAGAGGAAAGTAACAGTTGGGCTGGAGGACTGGGGGGACACTGAGATGACATTAGGGTAAAAACTTAGAGTGTGGAGAGTGAACTACGAAGTTTAAATAATAACATTTTAAATAAGCTGATTTCTTTCCCCAGGTTAGAGAATCAGTGATAAATCGTTTCTTAATTGCAAAACAATATTTTCTTCTTGCTGATATGATAGTAGAAGAAGTTGTTCCCAATATCAGGTAAAAATAATCAAAGCCATTATTATCAATTCTTATAAAAATTATTATTTATACTCTATTATATGAAAGGTATCATATAAGATTTTTAAAAATCATCGTATGGTATGCATTTGGGCCAGGAATAATGTGTTAAACCTGGTTAATACCTGATGATGACATTAGTTGAGGGATTTCTACTAGAACAAGTCTTCCTAGGGCCTCTCCCATTGCATTCCAACAAACCCCATCTCACCTCCCCTACTTCCAAATCAACTTCATTAGCCTTTGCCATTTTCTCATTCCCGTTGAACTAAACCTGACAGCATTTCCCTCCTGCAAGTACTTCTCCTGTTTTCCTAGTCTCCCAGTGCCAGACATTCCCTTACTCTCCTGTCGCATGGCAGTAGAGGTGGCTGAGACCCCACCCACAAGCTTCTGGGGTGGACGAGGAAACCTGGTTGCAGCACCACAGCTGGTGGGCAGAGAGCTGGTGCATGTGCTTGGTGAGAGTGTAGAACAGCAGGAAAGATTTGATATTCACACAGATATTGGGAATTGACTGTATTTGCTTGATTGACTCATTAGTTTGGATAATTGTCAAATGGCTTCAACTAGGGGTGTGGATATAGAAAAGATGAAAGATAATTTCCCATACTGGTGGTCTTGTGCAGGCCACATGACCTTTTCTGTGATTAAGTCTCTTGGTCTCCTAAAAAGGTTTTTTCTATGCATATACTTTCTCTCCACCATCAAGTTGGGAAGGAGACAAAAAAAATGTGCAATCCATAGCAGCCCCTTTCCACATATAGAAAGGAGGCTACACCCACATAAATCCATGCAAAACCTCTCTCTCTATTCCAGGCCCACAGTCCAGTCATTGAATGTTTTCAAAGTCATGAAAATTACACTTAGAATAGATGATGATTTTTCATATTGTTTTTTTTTTCTTTTCCTTCCTTTTTTTCTGCTTTACTTTCTGCATTAAGTTCTGAAGGCTCAGGGTATGTTCTTTCTTCTTTTAATTTCAGTTCCTTCTTGGCTTTAAGATGTTTCTGTATTTGATGGTCCTGGCTGACATGGTGCTCCCATGCTGACTGCTATGGAGACATCAAAGTCTCAGGGAGGACTTACCTCCAGGGGAGGGAGGAAGCATTGACAATGGAAGAGTGTTGTCATGTTAGGACCTCTAACAAAGTTCTGTCTCTGAGGCCCCCTAGTTTGGGTTAGGTAGGTGTCCTGGCAGAGTGATTAAAAACATGAGCTATATAGTCACAGTGACCTGAGTTTGAACCCCTGCTCTCCCTCCTACTACTAAGGAACCTTCAGCAAATCATAACACCTCTCGTAGCCTCTAATTTCTTCATCTGAAATACAGGGTAAATATTATATGCGTAAAGATTAGAAATGTTATATGTAAGGCACCCAGCACTCTTCTCAATACATAGGAGGTGCTTATAAATGGTAGCTATTTTGTGTAAAACCTTGGAGAATAAACAGGAACAACAGCTCCTGGAATCCTGGAACTTCCTTGGGTTTCCTTATAGGAGCTGTCAGCAGCGCCTAGACAGGAGCTGCAGAGACCTCAGCCTCAGCTGGCATGTGCCTCTTGCAAAGAGGGGCTCCAGTCAAGAGGTCACTTAGCCAGCTCTGATCCTCAGGAAGGAAGCAGAGAACCATGTGCATTATAGCCTGTGGCCAGCTCTGCAAAGCTGGCTTTGTTCTTTGGCTGTTTCACACAGCCATTAACATCAGCTTCCAGATACAGTCACATCTTTGTTTCTGTTTAGTTTCTGGGCCAGAATTTATTTGGTCCATGAACGTTTCTCCTATGATTCACTGACTCTGTTGCTTTCATCTTACAGGAAGTGTTTCTTGCATATCATCTCCGTGAAAGGTAGAGACATGAGAGAAGGAGTCTCTTGCTTCTCCCCTAACCCCTTCCTCCTCCCTATACCTCCTCCTCTTCTTCCACCTTAATCACTGGCATCAACCCAATAGTTACCATTTTAGGACATCTACTAAGTGCTAGAGCAGTGTCAGGGTGCTTTACACA | pathogenic | 80,573 |
Variant in gene CC2D2A (coiled-coil and C2 domain containing 2A), located at chromosome 4 position 15563422: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['CC2D2A-related_disorder', 'COACH_syndrome_2', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Retinal_dystrophy', 'Retinitis_pigmentosa_93'] | AAATGTGCAATCCATAGCAGCCCCTTTCCACATATAGAAAGGAGGCTACACCCACATAAATCCATGCAAAACCTCTCTCTCTATTCCAGGCCCACAGTCCAGTCATTGAATGTTTTCAAAGTCATGAAAATTACACTTAGAATAGATGATGATTTTTCATATTGTTTTTTTTTTCTTTTCCTTCCTTTTTTTCTGCTTTACTTTCTGCATTAAGTTCTGAAGGCTCAGGGTATGTTCTTTCTTCTTTTAATTTCAGTTCCTTCTTGGCTTTAAGATGTTTCTGTATTTGATGGTCCTGGCTGACATGGTGCTCCCATGCTGACTGCTATGGAGACATCAAAGTCTCAGGGAGGACTTACCTCCAGGGGAGGGAGGAAGCATTGACAATGGAAGAGTGTTGTCATGTTAGGACCTCTAACAAAGTTCTGTCTCTGAGGCCCCCTAGTTTGGGTTAGGTAGGTGTCCTGGCAGAGTGATTAAAAACATGAGCTATATAGTCACAGTGACCTGAGTTTGAACCCCTGCTCTCCCTCCTACTACTAAGGAACCTTCAGCAAATCATAACACCTCTCGTAGCCTCTAATTTCTTCATCTGAAATACAGGGTAAATATTATATGCGTAAAGATTAGAAATGTTATATGTAAGGCACCCAGCACTCTTCTCAATACATAGGAGGTGCTTATAAATGGTAGCTATTTTGTGTAAAACCTTGGAGAATAAACAGGAACAACAGCTCCTGGAATCCTGGAACTTCCTTGGGTTTCCTTATAGGAGCTGTCAGCAGCGCCTAGACAGGAGCTGCAGAGACCTCAGCCTCAGCTGGCATGTGCCTCTTGCAAAGAGGGGCTCCAGTCAAGAGGTCACTTAGCCAGCTCTGATCCTCAGGAAGGAAGCAGAGAACCATGTGCATTATAGCCTGTGGCCAGCTCTGCAAAGCTGGCTTTGTTCTTTGGCTGTTTCACACAGCCATTAACATCAGCTTCCAGATACAGTCACATCTTTGTTTCTGTTTAGTTTCTGGGCCAGAATTTATTTGGTCCATGAACGTTTCTCCTATGATTCACTGACTCTGTTGCTTTCATCTTACAGGAAGTGTTTCTTGCATATCATCTCCGTGAAAGGTAGAGACATGAGAGAAGGAGTCTCTTGCTTCTCCCCTAACCCCTTCCTCCTCCCTATACCTCCTCCTCTTCTTCCACCTTAATCACTGGCATCAACCCAATAGTTACCATTTTAGGACATCTACTAAGTGCTAGAGCAGTGTCAGGGTGCTTTACACACACTTCCTTATTCAATCCCTTCAACAATCCAAAGAAGTAGGTATCATTATCCACATTTTACAGATGATGAAACAGAGACTTAAAGAGGTGAAATGATTTGCCCAAGGGCAAAGAGTGGAGCCAGGATTCACACCCAGTTCTAACTCCAGAGTGAAAGAGATAACCCAGGAACTGCCTAAGCAGCTGTACACACCCACTGTCATGTGAAGGGAGCAGGCTAATAGGAGCTCAAGAGGTTTGGAAGAGAGAGTAACCCTTCCAGCTGGAGTAGCTGAGTCTCTGGGGGAGGTGGACACTGGCCCCAAGGGATGGGTAAAACTGCAACCAACTAGGCAGACAAGGAAGATGCAGGGAGGCATTCCCTCTGCAGGACTGGCCCAAGCAAATGTGAAGGATGGGAGACCATAGGCATGTTTGAGGAACTGGTGGGTGAGCAAGGTAGAGATAAGGCAGGAAATGTAAGGGCCAGAGCATGGCTTCTCTTCCTTGGATAAGCAGCAGCTAGAGTAAGTTTTAACAATCCATGCAGTAGGATCTCGCCCATTTGGGAGAATTTCTAGACTATTTCCACCCACCTTCAAAGGACAAGGAGTTTTTCAGGGGCGTGTGCAGGACCATGGGGCAGAGTTCGGGAAGTCGTCTCACAATTTTGCAGACCTTTCTTTTTCTTAGAGTCCTGATCCTGTTCTGTAATCATTAGCATTTTGGGCCTAAGCCTTTTCAAGCTGGCAGAACAAAAGCGACCACTGCGGCCAAGGAGAAAAGGTCGGAAGAAGGTGACAGCCCAAAACCTGTCTGATGGAGACATAAAGCTGCTGGTGAACATTGTGCGAGCTTACGACATTCCAGTGAGGAAGCCGGCAGTGAGGTGAGAGCCCTCCCAACAGCCCGAGATGCAGTGTGCAGCATCCCAGCCAAGTCAATCGCTCCTTTACAGCATACTCACTCTCATTCTTAACGTGGTTATTGTTCAGCAGGGGACTGAGGGTTCTTGCAAAGCCAAGGCCCTACTGTTTGCAAGTAATACATTCCAATTCCATCAATTCAGGCTAAAGAGGGGATTTATTAAGAACATCTCAAATAACTCGGACAAGAGGTATAGCTGAATTACAAGGGAGACTGCAGGGATAAGATAGTTCTCCTGAGGCCCCGTGGTCTCTCACTTGCCTCACTCTGAGTTTGCTTCATTTTTCTCCATGTGATGGAAGTGGCCCATGCAGCTAGAGTACCACCAATTAAGCGTCATTTTCTCCAGAGAAGTCTGAAGGTGCTAACTTGGCCAGGTGTTGATCCATGGTCTAATCGCCGATAGCCAGAGAGACAGGGTCAGAAGCACCAGCCCCAGAGATAGGAACAGATCTCAGAGAAGTGGGTATGAGCTGGGGAGAGTCACAAAAGGTGTCTGTCCAAGGTTCTGAAACATATGTGCTGTGAACATAAAAACGTGGCTTCCCTTTCATCTGTTCGGAGAAATGTGTTACGACTACTAGAATTCACTACACCAGGGGTAACAGGGAGCCTTCAGCCATTGGGAAGATGAGTCTGAGGAAACAGAGAAGGAAGGACCAAAAATTAAAACTTCTTTTTTTTTGTAGAGACAGGGTCCTGCTATGTTGCCCAGGCTGGTCTGGAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCTCAAAGTGCTGGGATTACTGGTGTGAGCCAATGCACCTGGCGTGAAACTTCTTTTTGGTAGTGCCCTTACCAGTGTAATGGGAGAAAGTAGCACTTAATGTGCATTCACCATGTTTCAAGCACCATGGTAGGCAGGTTCACATATAAGATTTCATTTAACTGTTACTGCTATTACTATCTCCACTTCACAAAAGGGGAAATGGAAGTAAAGAGAGTATAAGTGGCTTGGCTAAGGTCATTCAGCCCTAACTGTTTCCTTGGAAGAGCACTGTTCCAGCCCTTGGTGTCTTTTCTCCCTAGGTTCTTCCCCTTTAATTTAGTTCTGTCTCTCTCCTTCCTCTCACCCCATTATTTTGCCTTACATTTTTTATTTTGAAACAGGGTCTCACTCTGTTGCCCAGGCTGAGTACAGTGGTGCTATCACAGCTCACTGCAACCTCGACCTCCTGGGCTCAAGTGATCCTCCCATCTCAGCTTCCCAACTAGTTGGGACTACAGGTGTGCCCCACCACGCGAGGCTAATTTTTTATTTTTTGTAGAGACAGGCTGTCCCCATTTTGCCCAGGGTGGTCTCGGACTCCTGGCCTCAAGCGATCCTCCTGCCTCTGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCCGGCTCCTACATATTTGTGTGTATGTGTGTCTTTACATTTTTTAACTAATTCGTTAACCTATTAGAGAGCATCTACAATCATCAACTATTCCTAATGCTTTGTTACTTGTAAATGTCCATATAAGCTCTTGAATCTGCTGTGGCATTGCTTTCCTGAGCTCACAGCCTACCCTTTCACCCTGATTGCCTCAAAGCTCAACTGGGGTGAAAAACTATTTTTTAAAGAACATATAGGTGCTTCTTGTAGTTTTCACCTCCATAGACTATTTTTAAGTGTTAAATCATTTTATTCAACTAAATTAAGGGAGCATAGTTGATCCTACATGCTACACATTCAATGCAGATACATCGAGACAGCTCAGACATCAACTGTTCCATTAAGCCTGCCCAAGTCTTTACCATTTACCTTTGCACTCATCCACATACGGTTTTTTTTTTTTTTTGCCTCCCTCACTGTTCTAATACAGCCTCTGACCATCCCTCTAGTCTAATACCTAT | AAATGTGCAATCCATAGCAGCCCCTTTCCACATATAGAAAGGAGGCTACACCCACATAAATCCATGCAAAACCTCTCTCTCTATTCCAGGCCCACAGTCCAGTCATTGAATGTTTTCAAAGTCATGAAAATTACACTTAGAATAGATGATGATTTTTCATATTGTTTTTTTTTTCTTTTCCTTCCTTTTTTTCTGCTTTACTTTCTGCATTAAGTTCTGAAGGCTCAGGGTATGTTCTTTCTTCTTTTAATTTCAGTTCCTTCTTGGCTTTAAGATGTTTCTGTATTTGATGGTCCTGGCTGACATGGTGCTCCCATGCTGACTGCTATGGAGACATCAAAGTCTCAGGGAGGACTTACCTCCAGGGGAGGGAGGAAGCATTGACAATGGAAGAGTGTTGTCATGTTAGGACCTCTAACAAAGTTCTGTCTCTGAGGCCCCCTAGTTTGGGTTAGGTAGGTGTCCTGGCAGAGTGATTAAAAACATGAGCTATATAGTCACAGTGACCTGAGTTTGAACCCCTGCTCTCCCTCCTACTACTAAGGAACCTTCAGCAAATCATAACACCTCTCGTAGCCTCTAATTTCTTCATCTGAAATACAGGGTAAATATTATATGCGTAAAGATTAGAAATGTTATATGTAAGGCACCCAGCACTCTTCTCAATACATAGGAGGTGCTTATAAATGGTAGCTATTTTGTGTAAAACCTTGGAGAATAAACAGGAACAACAGCTCCTGGAATCCTGGAACTTCCTTGGGTTTCCTTATAGGAGCTGTCAGCAGCGCCTAGACAGGAGCTGCAGAGACCTCAGCCTCAGCTGGCATGTGCCTCTTGCAAAGAGGGGCTCCAGTCAAGAGGTCACTTAGCCAGCTCTGATCCTCAGGAAGGAAGCAGAGAACCATGTGCATTATAGCCTGTGGCCAGCTCTGCAAAGCTGGCTTTGTTCTTTGGCTGTTTCACACAGCCATTAACATCAGCTTCCAGATACAGTCACATCTTTGTTTCTGTTTAGTTTCTGGGCCAGAATTTATTTGGTCCATGAACGTTTCTCCTATGATTCACTGACTCTGTTGCTTTCATCTTACAGGAAGTGTTTCTTGCATATCATCTCCGTGAAAGGTAGAGACATGAGAGAAGGAGTCTCTTGCTTCTCCCCTAACCCCTTCCTCCTCCCTATACCTCCTCCTCTTCTTCCACCTTAATCACTGGCATCAACCCAATAGTTACCATTTTAGGACATCTACTAAGTGCTAGAGCAGTGTCAGGGTGCTTTACACACACTTCCTTATTCAATCCCTTCAACAATCCAAAGAAGTAGGTATCATTATCCACATTTTACAGATGATGAAACAGAGACTTAAAGAGGTGAAATGATTTGCCCAAGGGCAAAGAGTGGAGCCAGGATTCACACCCAGTTCTAACTCCAGAGTGAAAGAGATAACCCAGGAACTGCCTAAGCAGCTGTACACACCCACTGTCATGTGAAGGGAGCAGGCTAATAGGAGCTCAAGAGGTTTGGAAGAGAGAGTAACCCTTCCAGCTGGAGTAGCTGAGTCTCTGGGGGAGGTGGACACTGGCCCCAAGGGATGGGTAAAACTGCAACCAACTAGGCAGACAAGGAAGATGCAGGGAGGCATTCCCTCTGCAGGACTGGCCCAAGCAAATGTGAAGGATGGGAGACCATAGGCATGTTTGAGGAACTGGTGGGTGAGCAAGGTAGAGATAAGGCAGGAAATGTAAGGGCCAGAGCATGGCTTCTCTTCCTTGGATAAGCAGCAGCTAGAGTAAGTTTTAACAATCCATGCAGTAGGATCTCGCCCATTTGGGAGAATTTCTAGACTATTTCCACCCACCTTCAAAGGACAAGGAGTTTTTCAGGGGCGTGTGCAGGACCATGGGGCAGAGTTCGGGAAGTCGTCTCACAATTTTGCAGACCTTTCTTTTTCTTAGAGTCCTGATCCTGTTCTGTAATCATTAGCATTTTGGGCCTAAGCCTTTTCAAGCTGGCAGAACAAAAGCGACCACTGCGGCCAAGGAGAAAAGGTCGAAGAAGGTGACAGCCCAAAACCTGTCTGATGGAGACATAAAGCTGCTGGTGAACATTGTGCGAGCTTACGACATTCCAGTGAGGAAGCCGGCAGTGAGGTGAGAGCCCTCCCAACAGCCCGAGATGCAGTGTGCAGCATCCCAGCCAAGTCAATCGCTCCTTTACAGCATACTCACTCTCATTCTTAACGTGGTTATTGTTCAGCAGGGGACTGAGGGTTCTTGCAAAGCCAAGGCCCTACTGTTTGCAAGTAATACATTCCAATTCCATCAATTCAGGCTAAAGAGGGGATTTATTAAGAACATCTCAAATAACTCGGACAAGAGGTATAGCTGAATTACAAGGGAGACTGCAGGGATAAGATAGTTCTCCTGAGGCCCCGTGGTCTCTCACTTGCCTCACTCTGAGTTTGCTTCATTTTTCTCCATGTGATGGAAGTGGCCCATGCAGCTAGAGTACCACCAATTAAGCGTCATTTTCTCCAGAGAAGTCTGAAGGTGCTAACTTGGCCAGGTGTTGATCCATGGTCTAATCGCCGATAGCCAGAGAGACAGGGTCAGAAGCACCAGCCCCAGAGATAGGAACAGATCTCAGAGAAGTGGGTATGAGCTGGGGAGAGTCACAAAAGGTGTCTGTCCAAGGTTCTGAAACATATGTGCTGTGAACATAAAAACGTGGCTTCCCTTTCATCTGTTCGGAGAAATGTGTTACGACTACTAGAATTCACTACACCAGGGGTAACAGGGAGCCTTCAGCCATTGGGAAGATGAGTCTGAGGAAACAGAGAAGGAAGGACCAAAAATTAAAACTTCTTTTTTTTTGTAGAGACAGGGTCCTGCTATGTTGCCCAGGCTGGTCTGGAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCTCAAAGTGCTGGGATTACTGGTGTGAGCCAATGCACCTGGCGTGAAACTTCTTTTTGGTAGTGCCCTTACCAGTGTAATGGGAGAAAGTAGCACTTAATGTGCATTCACCATGTTTCAAGCACCATGGTAGGCAGGTTCACATATAAGATTTCATTTAACTGTTACTGCTATTACTATCTCCACTTCACAAAAGGGGAAATGGAAGTAAAGAGAGTATAAGTGGCTTGGCTAAGGTCATTCAGCCCTAACTGTTTCCTTGGAAGAGCACTGTTCCAGCCCTTGGTGTCTTTTCTCCCTAGGTTCTTCCCCTTTAATTTAGTTCTGTCTCTCTCCTTCCTCTCACCCCATTATTTTGCCTTACATTTTTTATTTTGAAACAGGGTCTCACTCTGTTGCCCAGGCTGAGTACAGTGGTGCTATCACAGCTCACTGCAACCTCGACCTCCTGGGCTCAAGTGATCCTCCCATCTCAGCTTCCCAACTAGTTGGGACTACAGGTGTGCCCCACCACGCGAGGCTAATTTTTTATTTTTTGTAGAGACAGGCTGTCCCCATTTTGCCCAGGGTGGTCTCGGACTCCTGGCCTCAAGCGATCCTCCTGCCTCTGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCCGGCTCCTACATATTTGTGTGTATGTGTGTCTTTACATTTTTTAACTAATTCGTTAACCTATTAGAGAGCATCTACAATCATCAACTATTCCTAATGCTTTGTTACTTGTAAATGTCCATATAAGCTCTTGAATCTGCTGTGGCATTGCTTTCCTGAGCTCACAGCCTACCCTTTCACCCTGATTGCCTCAAAGCTCAACTGGGGTGAAAAACTATTTTTTAAAGAACATATAGGTGCTTCTTGTAGTTTTCACCTCCATAGACTATTTTTAAGTGTTAAATCATTTTATTCAACTAAATTAAGGGAGCATAGTTGATCCTACATGCTACACATTCAATGCAGATACATCGAGACAGCTCAGACATCAACTGTTCCATTAAGCCTGCCCAAGTCTTTACCATTTACCTTTGCACTCATCCACATACGGTTTTTTTTTTTTTTTGCCTCCCTCACTGTTCTAATACAGCCTCTGACCATCCCTCTAGTCTAATACCTATN | pathogenic | 80,579 |
Chromosome 4, position 15567469, gene CC2D2A (coiled-coil and C2 domain containing 2A): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['COACH_syndrome_2', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | CTCACTGTTCTAATACAGCCTCTGACCATCCCTCTAGTCTAATACCTATCTCACTTTATTGAGATGATTTGTTTATGTGTCTGCCTTCCAGTCTAGTCTGCAGTGAAGTGTTATCTTCATCTTAAAAGCCCAAAGTCTAACATGGGGCCTAAAATATAGGTACTAAACAAATGGGTTTTTGGGGGTTTTTAAATTTTACTTCTTAGACCCAGGGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTTACTGCAGACTTGGAAATCCTGGGCTCAAGAGATCCTCCTCCCTCAACCTCCCAAGTAGCTAAGACTACAGGTACACACCACCAAGCCCAGCTAATTTGTTTTATTATTTTTTTAGAGATGGGGTCTCATTCTGTTGACCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATTCTCCCACTTTGGCCTCCCAAAGTGCTGGGAATACAGGCATGAACCATTGCATCCAGCCACAAGTGTTTGTTTAATAAAGTAACTGATGGTTTTCCAAAAAGAAAAGAGCTTTTCTATGGTACCTGTTGCATTAAATGTTCCAATTACCTTTGTCTGAAACCTTAGCTGTGAAAGGTGATAGTCTATAGAAAGAGACTATTTGTATTTTGCCCAGTGATGAATGTGAAATACTTGGCAAACCATAAGGTTCAATACAAATATGCAAGTATGTTGTTAGGGTGATGGTGGAGGTATCTGGAAGAGACTCTCTGGATTTGATCTTCATTTGTTCCTTTAAGAACAGCAGTTGAGAAGGGAGAAGAGGATAAGACTCGCTGATCCTAACTCAAGCTAGGAATCCCTGCACCTCCCTTTCCTGGTGAGGCTTGGCAGGCCCCAGGAGATTCCTTGCCTGACATGTGTAGCTTGGGGTTATTGGAGAGTGCAGGTACAAAGAACAGACAGTGGGGAGAACCTGGACTGGATGGAGATGGGGCAGGCTGGTCAGGAAGCTCAGGATCTCCTATCTGTGAGGGATTGAGGCTCTCATCTATGGAGGGAAAGGCAGGTCCCCCATTCAGGCGCCCCCTAGAAGGGAGGAGAAAGGAGACATTTTCCTTTGTTCTCAGCACACAGGCCTGGGCATGGAAGTTGGGGAAGGCTCTAGCAATCTCTAGGTGACTCTGTGGGGACCAGAGCATACTAAAAAGCCTTCTGCAATGTCAACAAGCATAAGGGAGAATGTTTGTCACCACAGCCACCAGGGCCATACATCTTTGGAAAAAAGCATCTTCTCAAGCTGGGCATGGTGGCTCACACCTGCAATATCAGCACTTTGGGAACCCAAGACAGGAGGATCACTTGAACGCAGGAGTTCAAGACCACCCTGAGCAACATCCTGAGACCTCTGGTCCCTACAAAAAATTTTAAAAATTAGCTGGGCATGGTGGAGTGTGTTTGTAGTCCCAGCTACTCTGGAGGCTGAAGTGGGAGGATCGCTTGAGCCTGGGAGGTTGAGGCTGGAGTGAGCCATAATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTATCTCAAAAATTTTTTTAAAAATAAAAATAAGGCTGGGTGCAGTAACTCATGCCTGTGATTCCAGCACTTTGGGAGGCCAAAGTGGGCAGATTACTTGAGCTCAGAAGTTTGAGACCAGCCTTAGCAACATGGCAAAACCACATCTTTACTAAAAATACAAAAATTAGCTAGGTGTGGTGACTCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCTTGGGAGACAGAGGTTGCAGTGAGCTGAGATTGCACCAGCCGAGATCATGCCACTGCACTTCAGCTTGGGCGACAGAGTGAGACCCTATCTCAATAAATAAATAATTGTCTTCTCAATATATAATTAGACTTCCTCTATCATTAATTTCCTTCATACATTTTCTCTCCTAGCAAATTCCAGCAGCCGTCGAGGTCTTCAAGGATGTTCAGTGAAAAGCATGCTGCTTCCCCAAGCACGTACAGCCCAACCCACAATGCTGACTACCCCCTCGGCCAGGTGAGAGATGCTGGACTTCAGCTTTCCACCTTGCCCCTTAAGTTTTTAAGAAATGACTGTAAACTTCATGGATAGTCTGCTCTCTGCTTCATTTTCTTTGGAAACATACTACTTAGTAAATATACTCTATTTTTGCTAAGAATAAAATAATTTGACTAACCATTGGGAACTCAGAATTTGCTCTTGATTTTAAGGTTTTAGTACGTCCCTTTGTAGAAGTCTCTTTTCAACGAACAGTTTGCCATACGACTACGGCTGAAGGACCAAACCCTAGCTGGAATGAAGAACTAGAACTTCCATTTAGGTAAGCATATTTTCCTCTTTAAAGAACTATAGGACATTTTGAAGAAATGTGAAGAAAGCAGGCTCATGAGAAACGGCTAAGGTGAAGGATTTTGTAGCTAGTGAGCGGCAACAAGATCCAGGTGTCCTGACGCCAAGTCCCATGCTTTTCCTCTTGTACCACAGCTGACTCCCTTCAAGAATAAAAATGGAAAAATGTCCAACTTTTAAAACCCCAGATTCATTGTTGGGACATCCTATGCTCCTCCAGGCTCTGGCTTCTTAAAGCCCAAAGTTTTTCATTCCCTTGACCCCAATGACCTACACTGCTTTCCTTTCTTCCTCATGTCCCCTCAAGTAAATCTGAAACTCCTTAGTTCCCATAAATCATACTTTCTTCCTCACCAGAAATAAATAGGCATTTCAGAAGTTTGGTCAAAGGATTTTAGATATTTAAATGGTTCTTATTATTTCAGTACTTGAAGCAACCTTGGAGATTATCTAGTCCAACCTCTACCTTTATGGAGAAGAAACTAAAACCCAAAAAGGGAAGGTGACTTACTTAAAGCCACACAGTAAATTAGAGACAGAGCAAGGATTAGAACTACTTAAGTCAGGCCGAGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGCCAGGGCACATGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGGAGAATTACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAACCTTAGCGAGAGAGCGAGACTCTGTCTCAAAATAAATACATAAATAAGAACTAGTTAAGTCAGAAGAAGGTAACAGCTACCACTATTATGCACAGAACAGCAAAAAGAACAAGAAAACATAAAGTCAAATGTTCAACAAAATACACCTATTACCCCAGACACCAGCCCTGCCATGCAGAGGCACGGTTGCTCCAGGCTTAGCTAGACTCAGAGTGGGTTATGTTACAGGAGACCTTACCCCTGTATTGCTTTACTTATATACAGAAAAGGTGAGTGTGAGGCAGGGACCATTAGACCAACCAGCCAGTAGGAGGTTTATCACTGGAGAGTGGTTTTGCTGGAGAAGCACCCTTCTGGGGCCCATTTGCTTAGGAAGTCCATATACTAGCTCCAGTGTCAGCTGGAAACCTTGTAGCCTGTCCACTAAGCTAGCTCAGTCCTGGCAAGCTGCCTCCTTGAAAAGCTTACCACAAGGGTGTGGGGGAATATGAGACTCACCAGGACAAGCCAGCAGAGGGTTTGTCTCTGCATAGAGTCTCTAATGTAATGCTCTGTCCATTTGAATATAGGTATTATAGTATCCCTGTACAAGAGAAATCCTAGAAATGAAAGCAATGCTTTTAATTCTAACATCTATGCTCATATTTGGGTATTTTTCAAATGCTGACATTTGAATGCTCATAATTTCTATGTTGCCTATTTTCACAGTCCCTGGTCATGTGCTGTCTTGCAGGGCTCCTAATGGAGATTATAGCACAGCCAGTCTGCAGTCAGTGAAAGATGTTGTGTTCATTAACATTTTTGATGAAGTACTGCATGATGTCTTAGAGGTAAGTTCTCAGTTTTAAGAAAGACACTTGTATTCACTTTCATATCCTCTACCCACTACATAAGTTCCAATCACATTGTTACCAGAAAGGGGTCCCGATCTAGATCCTTTCTTGGATATCACACAAG | CTCACTGTTCTAATACAGCCTCTGACCATCCCTCTAGTCTAATACCTATCTCACTTTATTGAGATGATTTGTTTATGTGTCTGCCTTCCAGTCTAGTCTGCAGTGAAGTGTTATCTTCATCTTAAAAGCCCAAAGTCTAACATGGGGCCTAAAATATAGGTACTAAACAAATGGGTTTTTGGGGGTTTTTAAATTTTACTTCTTAGACCCAGGGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTTACTGCAGACTTGGAAATCCTGGGCTCAAGAGATCCTCCTCCCTCAACCTCCCAAGTAGCTAAGACTACAGGTACACACCACCAAGCCCAGCTAATTTGTTTTATTATTTTTTTAGAGATGGGGTCTCATTCTGTTGACCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATTCTCCCACTTTGGCCTCCCAAAGTGCTGGGAATACAGGCATGAACCATTGCATCCAGCCACAAGTGTTTGTTTAATAAAGTAACTGATGGTTTTCCAAAAAGAAAAGAGCTTTTCTATGGTACCTGTTGCATTAAATGTTCCAATTACCTTTGTCTGAAACCTTAGCTGTGAAAGGTGATAGTCTATAGAAAGAGACTATTTGTATTTTGCCCAGTGATGAATGTGAAATACTTGGCAAACCATAAGGTTCAATACAAATATGCAAGTATGTTGTTAGGGTGATGGTGGAGGTATCTGGAAGAGACTCTCTGGATTTGATCTTCATTTGTTCCTTTAAGAACAGCAGTTGAGAAGGGAGAAGAGGATAAGACTCGCTGATCCTAACTCAAGCTAGGAATCCCTGCACCTCCCTTTCCTGGTGAGGCTTGGCAGGCCCCAGGAGATTCCTTGCCTGACATGTGTAGCTTGGGGTTATTGGAGAGTGCAGGTACAAAGAACAGACAGTGGGGAGAACCTGGACTGGATGGAGATGGGGCAGGCTGGTCAGGAAGCTCAGGATCTCCTATCTGTGAGGGATTGAGGCTCTCATCTATGGAGGGAAAGGCAGGTCCCCCATTCAGGCGCCCCCTAGAAGGGAGGAGAAAGGAGACATTTTCCTTTGTTCTCAGCACACAGGCCTGGGCATGGAAGTTGGGGAAGGCTCTAGCAATCTCTAGGTGACTCTGTGGGGACCAGAGCATACTAAAAAGCCTTCTGCAATGTCAACAAGCATAAGGGAGAATGTTTGTCACCACAGCCACCAGGGCCATACATCTTTGGAAAAAAGCATCTTCTCAAGCTGGGCATGGTGGCTCACACCTGCAATATCAGCACTTTGGGAACCCAAGACAGGAGGATCACTTGAACGCAGGAGTTCAAGACCACCCTGAGCAACATCCTGAGACCTCTGGTCCCTACAAAAAATTTTAAAAATTAGCTGGGCATGGTGGAGTGTGTTTGTAGTCCCAGCTACTCTGGAGGCTGAAGTGGGAGGATCGCTTGAGCCTGGGAGGTTGAGGCTGGAGTGAGCCATAATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTATCTCAAAAATTTTTTTAAAAATAAAAATAAGGCTGGGTGCAGTAACTCATGCCTGTGATTCCAGCACTTTGGGAGGCCAAAGTGGGCAGATTACTTGAGCTCAGAAGTTTGAGACCAGCCTTAGCAACATGGCAAAACCACATCTTTACTAAAAATACAAAAATTAGCTAGGTGTGGTGACTCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCTTGGGAGACAGAGGTTGCAGTGAGCTGAGATTGCACCAGCCGAGATCATGCCACTGCACTTCAGCTTGGGCGACAGAGTGAGACCCTATCTCAATAAATAAATAATTGTCTTCTCAATATATAATTAGACTTCCTCTATCATTAATTTCCTTCATACATTTTCTCTCCTAGCAAATTCCAGCAGCCGTCGAGGTCTTCAAGGATGTTCAGTGAAAAGCATGCTGCTTCCCCAAGCACGTACAGCCCAACCCACAATGCTGACTACCCCTCGGCCAGGTGAGAGATGCTGGACTTCAGCTTTCCACCTTGCCCCTTAAGTTTTTAAGAAATGACTGTAAACTTCATGGATAGTCTGCTCTCTGCTTCATTTTCTTTGGAAACATACTACTTAGTAAATATACTCTATTTTTGCTAAGAATAAAATAATTTGACTAACCATTGGGAACTCAGAATTTGCTCTTGATTTTAAGGTTTTAGTACGTCCCTTTGTAGAAGTCTCTTTTCAACGAACAGTTTGCCATACGACTACGGCTGAAGGACCAAACCCTAGCTGGAATGAAGAACTAGAACTTCCATTTAGGTAAGCATATTTTCCTCTTTAAAGAACTATAGGACATTTTGAAGAAATGTGAAGAAAGCAGGCTCATGAGAAACGGCTAAGGTGAAGGATTTTGTAGCTAGTGAGCGGCAACAAGATCCAGGTGTCCTGACGCCAAGTCCCATGCTTTTCCTCTTGTACCACAGCTGACTCCCTTCAAGAATAAAAATGGAAAAATGTCCAACTTTTAAAACCCCAGATTCATTGTTGGGACATCCTATGCTCCTCCAGGCTCTGGCTTCTTAAAGCCCAAAGTTTTTCATTCCCTTGACCCCAATGACCTACACTGCTTTCCTTTCTTCCTCATGTCCCCTCAAGTAAATCTGAAACTCCTTAGTTCCCATAAATCATACTTTCTTCCTCACCAGAAATAAATAGGCATTTCAGAAGTTTGGTCAAAGGATTTTAGATATTTAAATGGTTCTTATTATTTCAGTACTTGAAGCAACCTTGGAGATTATCTAGTCCAACCTCTACCTTTATGGAGAAGAAACTAAAACCCAAAAAGGGAAGGTGACTTACTTAAAGCCACACAGTAAATTAGAGACAGAGCAAGGATTAGAACTACTTAAGTCAGGCCGAGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGCCAGGGCACATGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGGAGAATTACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAACCTTAGCGAGAGAGCGAGACTCTGTCTCAAAATAAATACATAAATAAGAACTAGTTAAGTCAGAAGAAGGTAACAGCTACCACTATTATGCACAGAACAGCAAAAAGAACAAGAAAACATAAAGTCAAATGTTCAACAAAATACACCTATTACCCCAGACACCAGCCCTGCCATGCAGAGGCACGGTTGCTCCAGGCTTAGCTAGACTCAGAGTGGGTTATGTTACAGGAGACCTTACCCCTGTATTGCTTTACTTATATACAGAAAAGGTGAGTGTGAGGCAGGGACCATTAGACCAACCAGCCAGTAGGAGGTTTATCACTGGAGAGTGGTTTTGCTGGAGAAGCACCCTTCTGGGGCCCATTTGCTTAGGAAGTCCATATACTAGCTCCAGTGTCAGCTGGAAACCTTGTAGCCTGTCCACTAAGCTAGCTCAGTCCTGGCAAGCTGCCTCCTTGAAAAGCTTACCACAAGGGTGTGGGGGAATATGAGACTCACCAGGACAAGCCAGCAGAGGGTTTGTCTCTGCATAGAGTCTCTAATGTAATGCTCTGTCCATTTGAATATAGGTATTATAGTATCCCTGTACAAGAGAAATCCTAGAAATGAAAGCAATGCTTTTAATTCTAACATCTATGCTCATATTTGGGTATTTTTCAAATGCTGACATTTGAATGCTCATAATTTCTATGTTGCCTATTTTCACAGTCCCTGGTCATGTGCTGTCTTGCAGGGCTCCTAATGGAGATTATAGCACAGCCAGTCTGCAGTCAGTGAAAGATGTTGTGTTCATTAACATTTTTGATGAAGTACTGCATGATGTCTTAGAGGTAAGTTCTCAGTTTTAAGAAAGACACTTGTATTCACTTTCATATCCTCTACCCACTACATAAGTTCCAATCACATTGTTACCAGAAAGGGGTCCCGATCTAGATCCTTTCTTGGATATCACACAAGN | pathogenic | 80,585 |
The mutation in gene CC2D2A (coiled-coil and C2 domain containing 2A) at chromosome 4, position 15567675—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['CC2D2A-related_disorder', 'COACH_syndrome_2', 'Familial_aplasia_of_the_vermis', 'Inborn_genetic_diseases', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | ACCCAGGGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTTACTGCAGACTTGGAAATCCTGGGCTCAAGAGATCCTCCTCCCTCAACCTCCCAAGTAGCTAAGACTACAGGTACACACCACCAAGCCCAGCTAATTTGTTTTATTATTTTTTTAGAGATGGGGTCTCATTCTGTTGACCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATTCTCCCACTTTGGCCTCCCAAAGTGCTGGGAATACAGGCATGAACCATTGCATCCAGCCACAAGTGTTTGTTTAATAAAGTAACTGATGGTTTTCCAAAAAGAAAAGAGCTTTTCTATGGTACCTGTTGCATTAAATGTTCCAATTACCTTTGTCTGAAACCTTAGCTGTGAAAGGTGATAGTCTATAGAAAGAGACTATTTGTATTTTGCCCAGTGATGAATGTGAAATACTTGGCAAACCATAAGGTTCAATACAAATATGCAAGTATGTTGTTAGGGTGATGGTGGAGGTATCTGGAAGAGACTCTCTGGATTTGATCTTCATTTGTTCCTTTAAGAACAGCAGTTGAGAAGGGAGAAGAGGATAAGACTCGCTGATCCTAACTCAAGCTAGGAATCCCTGCACCTCCCTTTCCTGGTGAGGCTTGGCAGGCCCCAGGAGATTCCTTGCCTGACATGTGTAGCTTGGGGTTATTGGAGAGTGCAGGTACAAAGAACAGACAGTGGGGAGAACCTGGACTGGATGGAGATGGGGCAGGCTGGTCAGGAAGCTCAGGATCTCCTATCTGTGAGGGATTGAGGCTCTCATCTATGGAGGGAAAGGCAGGTCCCCCATTCAGGCGCCCCCTAGAAGGGAGGAGAAAGGAGACATTTTCCTTTGTTCTCAGCACACAGGCCTGGGCATGGAAGTTGGGGAAGGCTCTAGCAATCTCTAGGTGACTCTGTGGGGACCAGAGCATACTAAAAAGCCTTCTGCAATGTCAACAAGCATAAGGGAGAATGTTTGTCACCACAGCCACCAGGGCCATACATCTTTGGAAAAAAGCATCTTCTCAAGCTGGGCATGGTGGCTCACACCTGCAATATCAGCACTTTGGGAACCCAAGACAGGAGGATCACTTGAACGCAGGAGTTCAAGACCACCCTGAGCAACATCCTGAGACCTCTGGTCCCTACAAAAAATTTTAAAAATTAGCTGGGCATGGTGGAGTGTGTTTGTAGTCCCAGCTACTCTGGAGGCTGAAGTGGGAGGATCGCTTGAGCCTGGGAGGTTGAGGCTGGAGTGAGCCATAATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTATCTCAAAAATTTTTTTAAAAATAAAAATAAGGCTGGGTGCAGTAACTCATGCCTGTGATTCCAGCACTTTGGGAGGCCAAAGTGGGCAGATTACTTGAGCTCAGAAGTTTGAGACCAGCCTTAGCAACATGGCAAAACCACATCTTTACTAAAAATACAAAAATTAGCTAGGTGTGGTGACTCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCTTGGGAGACAGAGGTTGCAGTGAGCTGAGATTGCACCAGCCGAGATCATGCCACTGCACTTCAGCTTGGGCGACAGAGTGAGACCCTATCTCAATAAATAAATAATTGTCTTCTCAATATATAATTAGACTTCCTCTATCATTAATTTCCTTCATACATTTTCTCTCCTAGCAAATTCCAGCAGCCGTCGAGGTCTTCAAGGATGTTCAGTGAAAAGCATGCTGCTTCCCCAAGCACGTACAGCCCAACCCACAATGCTGACTACCCCCTCGGCCAGGTGAGAGATGCTGGACTTCAGCTTTCCACCTTGCCCCTTAAGTTTTTAAGAAATGACTGTAAACTTCATGGATAGTCTGCTCTCTGCTTCATTTTCTTTGGAAACATACTACTTAGTAAATATACTCTATTTTTGCTAAGAATAAAATAATTTGACTAACCATTGGGAACTCAGAATTTGCTCTTGATTTTAAGGTTTTAGTACGTCCCTTTGTAGAAGTCTCTTTTCAACGAACAGTTTGCCATACGACTACGGCTGAAGGACCAAACCCTAGCTGGAATGAAGAACTAGAACTTCCATTTAGGTAAGCATATTTTCCTCTTTAAAGAACTATAGGACATTTTGAAGAAATGTGAAGAAAGCAGGCTCATGAGAAACGGCTAAGGTGAAGGATTTTGTAGCTAGTGAGCGGCAACAAGATCCAGGTGTCCTGACGCCAAGTCCCATGCTTTTCCTCTTGTACCACAGCTGACTCCCTTCAAGAATAAAAATGGAAAAATGTCCAACTTTTAAAACCCCAGATTCATTGTTGGGACATCCTATGCTCCTCCAGGCTCTGGCTTCTTAAAGCCCAAAGTTTTTCATTCCCTTGACCCCAATGACCTACACTGCTTTCCTTTCTTCCTCATGTCCCCTCAAGTAAATCTGAAACTCCTTAGTTCCCATAAATCATACTTTCTTCCTCACCAGAAATAAATAGGCATTTCAGAAGTTTGGTCAAAGGATTTTAGATATTTAAATGGTTCTTATTATTTCAGTACTTGAAGCAACCTTGGAGATTATCTAGTCCAACCTCTACCTTTATGGAGAAGAAACTAAAACCCAAAAAGGGAAGGTGACTTACTTAAAGCCACACAGTAAATTAGAGACAGAGCAAGGATTAGAACTACTTAAGTCAGGCCGAGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGCCAGGGCACATGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGGAGAATTACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAACCTTAGCGAGAGAGCGAGACTCTGTCTCAAAATAAATACATAAATAAGAACTAGTTAAGTCAGAAGAAGGTAACAGCTACCACTATTATGCACAGAACAGCAAAAAGAACAAGAAAACATAAAGTCAAATGTTCAACAAAATACACCTATTACCCCAGACACCAGCCCTGCCATGCAGAGGCACGGTTGCTCCAGGCTTAGCTAGACTCAGAGTGGGTTATGTTACAGGAGACCTTACCCCTGTATTGCTTTACTTATATACAGAAAAGGTGAGTGTGAGGCAGGGACCATTAGACCAACCAGCCAGTAGGAGGTTTATCACTGGAGAGTGGTTTTGCTGGAGAAGCACCCTTCTGGGGCCCATTTGCTTAGGAAGTCCATATACTAGCTCCAGTGTCAGCTGGAAACCTTGTAGCCTGTCCACTAAGCTAGCTCAGTCCTGGCAAGCTGCCTCCTTGAAAAGCTTACCACAAGGGTGTGGGGGAATATGAGACTCACCAGGACAAGCCAGCAGAGGGTTTGTCTCTGCATAGAGTCTCTAATGTAATGCTCTGTCCATTTGAATATAGGTATTATAGTATCCCTGTACAAGAGAAATCCTAGAAATGAAAGCAATGCTTTTAATTCTAACATCTATGCTCATATTTGGGTATTTTTCAAATGCTGACATTTGAATGCTCATAATTTCTATGTTGCCTATTTTCACAGTCCCTGGTCATGTGCTGTCTTGCAGGGCTCCTAATGGAGATTATAGCACAGCCAGTCTGCAGTCAGTGAAAGATGTTGTGTTCATTAACATTTTTGATGAAGTACTGCATGATGTCTTAGAGGTAAGTTCTCAGTTTTAAGAAAGACACTTGTATTCACTTTCATATCCTCTACCCACTACATAAGTTCCAATCACATTGTTACCAGAAAGGGGTCCCGATCTAGATCCTTTCTTGGATATCACACAAGAAAGAATTCAGAGCGAGTCCACAGTGCAAAGCAAAAGCGAGTTTATTAGGAAAGTAAAGTGGTGAAAGAATAGCTACTCCATAGACAGAATAGGGTGTTCTCGAAAGTAAGAGGAAGAATGCATTTACCCTAGGTACAATGCTTGTTTAGATATAGGATAAAAAAAGATCATGGGAAGATGTGCTCTGCTACAAGAGTTTGTGATA | ACCCAGGGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTTACTGCAGACTTGGAAATCCTGGGCTCAAGAGATCCTCCTCCCTCAACCTCCCAAGTAGCTAAGACTACAGGTACACACCACCAAGCCCAGCTAATTTGTTTTATTATTTTTTTAGAGATGGGGTCTCATTCTGTTGACCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATTCTCCCACTTTGGCCTCCCAAAGTGCTGGGAATACAGGCATGAACCATTGCATCCAGCCACAAGTGTTTGTTTAATAAAGTAACTGATGGTTTTCCAAAAAGAAAAGAGCTTTTCTATGGTACCTGTTGCATTAAATGTTCCAATTACCTTTGTCTGAAACCTTAGCTGTGAAAGGTGATAGTCTATAGAAAGAGACTATTTGTATTTTGCCCAGTGATGAATGTGAAATACTTGGCAAACCATAAGGTTCAATACAAATATGCAAGTATGTTGTTAGGGTGATGGTGGAGGTATCTGGAAGAGACTCTCTGGATTTGATCTTCATTTGTTCCTTTAAGAACAGCAGTTGAGAAGGGAGAAGAGGATAAGACTCGCTGATCCTAACTCAAGCTAGGAATCCCTGCACCTCCCTTTCCTGGTGAGGCTTGGCAGGCCCCAGGAGATTCCTTGCCTGACATGTGTAGCTTGGGGTTATTGGAGAGTGCAGGTACAAAGAACAGACAGTGGGGAGAACCTGGACTGGATGGAGATGGGGCAGGCTGGTCAGGAAGCTCAGGATCTCCTATCTGTGAGGGATTGAGGCTCTCATCTATGGAGGGAAAGGCAGGTCCCCCATTCAGGCGCCCCCTAGAAGGGAGGAGAAAGGAGACATTTTCCTTTGTTCTCAGCACACAGGCCTGGGCATGGAAGTTGGGGAAGGCTCTAGCAATCTCTAGGTGACTCTGTGGGGACCAGAGCATACTAAAAAGCCTTCTGCAATGTCAACAAGCATAAGGGAGAATGTTTGTCACCACAGCCACCAGGGCCATACATCTTTGGAAAAAAGCATCTTCTCAAGCTGGGCATGGTGGCTCACACCTGCAATATCAGCACTTTGGGAACCCAAGACAGGAGGATCACTTGAACGCAGGAGTTCAAGACCACCCTGAGCAACATCCTGAGACCTCTGGTCCCTACAAAAAATTTTAAAAATTAGCTGGGCATGGTGGAGTGTGTTTGTAGTCCCAGCTACTCTGGAGGCTGAAGTGGGAGGATCGCTTGAGCCTGGGAGGTTGAGGCTGGAGTGAGCCATAATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTATCTCAAAAATTTTTTTAAAAATAAAAATAAGGCTGGGTGCAGTAACTCATGCCTGTGATTCCAGCACTTTGGGAGGCCAAAGTGGGCAGATTACTTGAGCTCAGAAGTTTGAGACCAGCCTTAGCAACATGGCAAAACCACATCTTTACTAAAAATACAAAAATTAGCTAGGTGTGGTGACTCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCTTGGGAGACAGAGGTTGCAGTGAGCTGAGATTGCACCAGCCGAGATCATGCCACTGCACTTCAGCTTGGGCGACAGAGTGAGACCCTATCTCAATAAATAAATAATTGTCTTCTCAATATATAATTAGACTTCCTCTATCATTAATTTCCTTCATACATTTTCTCTCCTAGCAAATTCCAGCAGCCGTCGAGGTCTTCAAGGATGTTCAGTGAAAAGCATGCTGCTTCCCCAAGCACGTACAGCCCAACCCACAATGCTGACTACCCCCTCGGCCAGGTGAGAGATGCTGGACTTCAGCTTTCCACCTTGCCCCTTAAGTTTTTAAGAAATGACTGTAAACTTCATGGATAGTCTGCTCTCTGCTTCATTTTCTTTGGAAACATACTACTTAGTAAATATACTCTATTTTTGCTAAGAATAAAATAATTTGACTAACCATTGGGAACTCAGAATTTGCTCTTGATTTTAAGTTTTAGTACGTCCCTTTGTAGAAGTCTCTTTTCAACGAACAGTTTGCCATACGACTACGGCTGAAGGACCAAACCCTAGCTGGAATGAAGAACTAGAACTTCCATTTAGGTAAGCATATTTTCCTCTTTAAAGAACTATAGGACATTTTGAAGAAATGTGAAGAAAGCAGGCTCATGAGAAACGGCTAAGGTGAAGGATTTTGTAGCTAGTGAGCGGCAACAAGATCCAGGTGTCCTGACGCCAAGTCCCATGCTTTTCCTCTTGTACCACAGCTGACTCCCTTCAAGAATAAAAATGGAAAAATGTCCAACTTTTAAAACCCCAGATTCATTGTTGGGACATCCTATGCTCCTCCAGGCTCTGGCTTCTTAAAGCCCAAAGTTTTTCATTCCCTTGACCCCAATGACCTACACTGCTTTCCTTTCTTCCTCATGTCCCCTCAAGTAAATCTGAAACTCCTTAGTTCCCATAAATCATACTTTCTTCCTCACCAGAAATAAATAGGCATTTCAGAAGTTTGGTCAAAGGATTTTAGATATTTAAATGGTTCTTATTATTTCAGTACTTGAAGCAACCTTGGAGATTATCTAGTCCAACCTCTACCTTTATGGAGAAGAAACTAAAACCCAAAAAGGGAAGGTGACTTACTTAAAGCCACACAGTAAATTAGAGACAGAGCAAGGATTAGAACTACTTAAGTCAGGCCGAGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGCCAGGGCACATGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGGAGAATTACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAACCTTAGCGAGAGAGCGAGACTCTGTCTCAAAATAAATACATAAATAAGAACTAGTTAAGTCAGAAGAAGGTAACAGCTACCACTATTATGCACAGAACAGCAAAAAGAACAAGAAAACATAAAGTCAAATGTTCAACAAAATACACCTATTACCCCAGACACCAGCCCTGCCATGCAGAGGCACGGTTGCTCCAGGCTTAGCTAGACTCAGAGTGGGTTATGTTACAGGAGACCTTACCCCTGTATTGCTTTACTTATATACAGAAAAGGTGAGTGTGAGGCAGGGACCATTAGACCAACCAGCCAGTAGGAGGTTTATCACTGGAGAGTGGTTTTGCTGGAGAAGCACCCTTCTGGGGCCCATTTGCTTAGGAAGTCCATATACTAGCTCCAGTGTCAGCTGGAAACCTTGTAGCCTGTCCACTAAGCTAGCTCAGTCCTGGCAAGCTGCCTCCTTGAAAAGCTTACCACAAGGGTGTGGGGGAATATGAGACTCACCAGGACAAGCCAGCAGAGGGTTTGTCTCTGCATAGAGTCTCTAATGTAATGCTCTGTCCATTTGAATATAGGTATTATAGTATCCCTGTACAAGAGAAATCCTAGAAATGAAAGCAATGCTTTTAATTCTAACATCTATGCTCATATTTGGGTATTTTTCAAATGCTGACATTTGAATGCTCATAATTTCTATGTTGCCTATTTTCACAGTCCCTGGTCATGTGCTGTCTTGCAGGGCTCCTAATGGAGATTATAGCACAGCCAGTCTGCAGTCAGTGAAAGATGTTGTGTTCATTAACATTTTTGATGAAGTACTGCATGATGTCTTAGAGGTAAGTTCTCAGTTTTAAGAAAGACACTTGTATTCACTTTCATATCCTCTACCCACTACATAAGTTCCAATCACATTGTTACCAGAAAGGGGTCCCGATCTAGATCCTTTCTTGGATATCACACAAGAAAGAATTCAGAGCGAGTCCACAGTGCAAAGCAAAAGCGAGTTTATTAGGAAAGTAAAGTGGTGAAAGAATAGCTACTCCATAGACAGAATAGGGTGTTCTCGAAAGTAAGAGGAAGAATGCATTTACCCTAGGTACAATGCTTGTTTAGATATAGGATAAAAAAAGATCATGGGAAGATGTGCTCTGCTACAAGAGTTTGTGATAN | pathogenic | 80,588 |
A mutation at chromosome position 15567701 on chromosome 4 in gene CC2D2A (coiled-coil and C2 domain containing 2A): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['COACH_syndrome_2', 'Joubert_syndrome_9', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | GCTGGAGTGCAGTGGTGCAATCACAGCTTACTGCAGACTTGGAAATCCTGGGCTCAAGAGATCCTCCTCCCTCAACCTCCCAAGTAGCTAAGACTACAGGTACACACCACCAAGCCCAGCTAATTTGTTTTATTATTTTTTTAGAGATGGGGTCTCATTCTGTTGACCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATTCTCCCACTTTGGCCTCCCAAAGTGCTGGGAATACAGGCATGAACCATTGCATCCAGCCACAAGTGTTTGTTTAATAAAGTAACTGATGGTTTTCCAAAAAGAAAAGAGCTTTTCTATGGTACCTGTTGCATTAAATGTTCCAATTACCTTTGTCTGAAACCTTAGCTGTGAAAGGTGATAGTCTATAGAAAGAGACTATTTGTATTTTGCCCAGTGATGAATGTGAAATACTTGGCAAACCATAAGGTTCAATACAAATATGCAAGTATGTTGTTAGGGTGATGGTGGAGGTATCTGGAAGAGACTCTCTGGATTTGATCTTCATTTGTTCCTTTAAGAACAGCAGTTGAGAAGGGAGAAGAGGATAAGACTCGCTGATCCTAACTCAAGCTAGGAATCCCTGCACCTCCCTTTCCTGGTGAGGCTTGGCAGGCCCCAGGAGATTCCTTGCCTGACATGTGTAGCTTGGGGTTATTGGAGAGTGCAGGTACAAAGAACAGACAGTGGGGAGAACCTGGACTGGATGGAGATGGGGCAGGCTGGTCAGGAAGCTCAGGATCTCCTATCTGTGAGGGATTGAGGCTCTCATCTATGGAGGGAAAGGCAGGTCCCCCATTCAGGCGCCCCCTAGAAGGGAGGAGAAAGGAGACATTTTCCTTTGTTCTCAGCACACAGGCCTGGGCATGGAAGTTGGGGAAGGCTCTAGCAATCTCTAGGTGACTCTGTGGGGACCAGAGCATACTAAAAAGCCTTCTGCAATGTCAACAAGCATAAGGGAGAATGTTTGTCACCACAGCCACCAGGGCCATACATCTTTGGAAAAAAGCATCTTCTCAAGCTGGGCATGGTGGCTCACACCTGCAATATCAGCACTTTGGGAACCCAAGACAGGAGGATCACTTGAACGCAGGAGTTCAAGACCACCCTGAGCAACATCCTGAGACCTCTGGTCCCTACAAAAAATTTTAAAAATTAGCTGGGCATGGTGGAGTGTGTTTGTAGTCCCAGCTACTCTGGAGGCTGAAGTGGGAGGATCGCTTGAGCCTGGGAGGTTGAGGCTGGAGTGAGCCATAATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTATCTCAAAAATTTTTTTAAAAATAAAAATAAGGCTGGGTGCAGTAACTCATGCCTGTGATTCCAGCACTTTGGGAGGCCAAAGTGGGCAGATTACTTGAGCTCAGAAGTTTGAGACCAGCCTTAGCAACATGGCAAAACCACATCTTTACTAAAAATACAAAAATTAGCTAGGTGTGGTGACTCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCTTGGGAGACAGAGGTTGCAGTGAGCTGAGATTGCACCAGCCGAGATCATGCCACTGCACTTCAGCTTGGGCGACAGAGTGAGACCCTATCTCAATAAATAAATAATTGTCTTCTCAATATATAATTAGACTTCCTCTATCATTAATTTCCTTCATACATTTTCTCTCCTAGCAAATTCCAGCAGCCGTCGAGGTCTTCAAGGATGTTCAGTGAAAAGCATGCTGCTTCCCCAAGCACGTACAGCCCAACCCACAATGCTGACTACCCCCTCGGCCAGGTGAGAGATGCTGGACTTCAGCTTTCCACCTTGCCCCTTAAGTTTTTAAGAAATGACTGTAAACTTCATGGATAGTCTGCTCTCTGCTTCATTTTCTTTGGAAACATACTACTTAGTAAATATACTCTATTTTTGCTAAGAATAAAATAATTTGACTAACCATTGGGAACTCAGAATTTGCTCTTGATTTTAAGGTTTTAGTACGTCCCTTTGTAGAAGTCTCTTTTCAACGAACAGTTTGCCATACGACTACGGCTGAAGGACCAAACCCTAGCTGGAATGAAGAACTAGAACTTCCATTTAGGTAAGCATATTTTCCTCTTTAAAGAACTATAGGACATTTTGAAGAAATGTGAAGAAAGCAGGCTCATGAGAAACGGCTAAGGTGAAGGATTTTGTAGCTAGTGAGCGGCAACAAGATCCAGGTGTCCTGACGCCAAGTCCCATGCTTTTCCTCTTGTACCACAGCTGACTCCCTTCAAGAATAAAAATGGAAAAATGTCCAACTTTTAAAACCCCAGATTCATTGTTGGGACATCCTATGCTCCTCCAGGCTCTGGCTTCTTAAAGCCCAAAGTTTTTCATTCCCTTGACCCCAATGACCTACACTGCTTTCCTTTCTTCCTCATGTCCCCTCAAGTAAATCTGAAACTCCTTAGTTCCCATAAATCATACTTTCTTCCTCACCAGAAATAAATAGGCATTTCAGAAGTTTGGTCAAAGGATTTTAGATATTTAAATGGTTCTTATTATTTCAGTACTTGAAGCAACCTTGGAGATTATCTAGTCCAACCTCTACCTTTATGGAGAAGAAACTAAAACCCAAAAAGGGAAGGTGACTTACTTAAAGCCACACAGTAAATTAGAGACAGAGCAAGGATTAGAACTACTTAAGTCAGGCCGAGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGCCAGGGCACATGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGGAGAATTACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAACCTTAGCGAGAGAGCGAGACTCTGTCTCAAAATAAATACATAAATAAGAACTAGTTAAGTCAGAAGAAGGTAACAGCTACCACTATTATGCACAGAACAGCAAAAAGAACAAGAAAACATAAAGTCAAATGTTCAACAAAATACACCTATTACCCCAGACACCAGCCCTGCCATGCAGAGGCACGGTTGCTCCAGGCTTAGCTAGACTCAGAGTGGGTTATGTTACAGGAGACCTTACCCCTGTATTGCTTTACTTATATACAGAAAAGGTGAGTGTGAGGCAGGGACCATTAGACCAACCAGCCAGTAGGAGGTTTATCACTGGAGAGTGGTTTTGCTGGAGAAGCACCCTTCTGGGGCCCATTTGCTTAGGAAGTCCATATACTAGCTCCAGTGTCAGCTGGAAACCTTGTAGCCTGTCCACTAAGCTAGCTCAGTCCTGGCAAGCTGCCTCCTTGAAAAGCTTACCACAAGGGTGTGGGGGAATATGAGACTCACCAGGACAAGCCAGCAGAGGGTTTGTCTCTGCATAGAGTCTCTAATGTAATGCTCTGTCCATTTGAATATAGGTATTATAGTATCCCTGTACAAGAGAAATCCTAGAAATGAAAGCAATGCTTTTAATTCTAACATCTATGCTCATATTTGGGTATTTTTCAAATGCTGACATTTGAATGCTCATAATTTCTATGTTGCCTATTTTCACAGTCCCTGGTCATGTGCTGTCTTGCAGGGCTCCTAATGGAGATTATAGCACAGCCAGTCTGCAGTCAGTGAAAGATGTTGTGTTCATTAACATTTTTGATGAAGTACTGCATGATGTCTTAGAGGTAAGTTCTCAGTTTTAAGAAAGACACTTGTATTCACTTTCATATCCTCTACCCACTACATAAGTTCCAATCACATTGTTACCAGAAAGGGGTCCCGATCTAGATCCTTTCTTGGATATCACACAAGAAAGAATTCAGAGCGAGTCCACAGTGCAAAGCAAAAGCGAGTTTATTAGGAAAGTAAAGTGGTGAAAGAATAGCTACTCCATAGACAGAATAGGGTGTTCTCGAAAGTAAGAGGAAGAATGCATTTACCCTAGGTACAATGCTTGTTTAGATATAGGATAAAAAAAGATCATGGGAAGATGTGCTCTGCTACAAGAGTTTGTGATAAAGGATTCGTTTTCTAAATTACTGTA | GCTGGAGTGCAGTGGTGCAATCACAGCTTACTGCAGACTTGGAAATCCTGGGCTCAAGAGATCCTCCTCCCTCAACCTCCCAAGTAGCTAAGACTACAGGTACACACCACCAAGCCCAGCTAATTTGTTTTATTATTTTTTTAGAGATGGGGTCTCATTCTGTTGACCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATTCTCCCACTTTGGCCTCCCAAAGTGCTGGGAATACAGGCATGAACCATTGCATCCAGCCACAAGTGTTTGTTTAATAAAGTAACTGATGGTTTTCCAAAAAGAAAAGAGCTTTTCTATGGTACCTGTTGCATTAAATGTTCCAATTACCTTTGTCTGAAACCTTAGCTGTGAAAGGTGATAGTCTATAGAAAGAGACTATTTGTATTTTGCCCAGTGATGAATGTGAAATACTTGGCAAACCATAAGGTTCAATACAAATATGCAAGTATGTTGTTAGGGTGATGGTGGAGGTATCTGGAAGAGACTCTCTGGATTTGATCTTCATTTGTTCCTTTAAGAACAGCAGTTGAGAAGGGAGAAGAGGATAAGACTCGCTGATCCTAACTCAAGCTAGGAATCCCTGCACCTCCCTTTCCTGGTGAGGCTTGGCAGGCCCCAGGAGATTCCTTGCCTGACATGTGTAGCTTGGGGTTATTGGAGAGTGCAGGTACAAAGAACAGACAGTGGGGAGAACCTGGACTGGATGGAGATGGGGCAGGCTGGTCAGGAAGCTCAGGATCTCCTATCTGTGAGGGATTGAGGCTCTCATCTATGGAGGGAAAGGCAGGTCCCCCATTCAGGCGCCCCCTAGAAGGGAGGAGAAAGGAGACATTTTCCTTTGTTCTCAGCACACAGGCCTGGGCATGGAAGTTGGGGAAGGCTCTAGCAATCTCTAGGTGACTCTGTGGGGACCAGAGCATACTAAAAAGCCTTCTGCAATGTCAACAAGCATAAGGGAGAATGTTTGTCACCACAGCCACCAGGGCCATACATCTTTGGAAAAAAGCATCTTCTCAAGCTGGGCATGGTGGCTCACACCTGCAATATCAGCACTTTGGGAACCCAAGACAGGAGGATCACTTGAACGCAGGAGTTCAAGACCACCCTGAGCAACATCCTGAGACCTCTGGTCCCTACAAAAAATTTTAAAAATTAGCTGGGCATGGTGGAGTGTGTTTGTAGTCCCAGCTACTCTGGAGGCTGAAGTGGGAGGATCGCTTGAGCCTGGGAGGTTGAGGCTGGAGTGAGCCATAATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTATCTCAAAAATTTTTTTAAAAATAAAAATAAGGCTGGGTGCAGTAACTCATGCCTGTGATTCCAGCACTTTGGGAGGCCAAAGTGGGCAGATTACTTGAGCTCAGAAGTTTGAGACCAGCCTTAGCAACATGGCAAAACCACATCTTTACTAAAAATACAAAAATTAGCTAGGTGTGGTGACTCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCTTGGGAGACAGAGGTTGCAGTGAGCTGAGATTGCACCAGCCGAGATCATGCCACTGCACTTCAGCTTGGGCGACAGAGTGAGACCCTATCTCAATAAATAAATAATTGTCTTCTCAATATATAATTAGACTTCCTCTATCATTAATTTCCTTCATACATTTTCTCTCCTAGCAAATTCCAGCAGCCGTCGAGGTCTTCAAGGATGTTCAGTGAAAAGCATGCTGCTTCCCCAAGCACGTACAGCCCAACCCACAATGCTGACTACCCCCTCGGCCAGGTGAGAGATGCTGGACTTCAGCTTTCCACCTTGCCCCTTAAGTTTTTAAGAAATGACTGTAAACTTCATGGATAGTCTGCTCTCTGCTTCATTTTCTTTGGAAACATACTACTTAGTAAATATACTCTATTTTTGCTAAGAATAAAATAATTTGACTAACCATTGGGAACTCAGAATTTGCTCTTGATTTTAAGGTTTTAGTACGTCCCTTTGTAGAAGTCTTTTCAACGAACAGTTTGCCATACGACTACGGCTGAAGGACCAAACCCTAGCTGGAATGAAGAACTAGAACTTCCATTTAGGTAAGCATATTTTCCTCTTTAAAGAACTATAGGACATTTTGAAGAAATGTGAAGAAAGCAGGCTCATGAGAAACGGCTAAGGTGAAGGATTTTGTAGCTAGTGAGCGGCAACAAGATCCAGGTGTCCTGACGCCAAGTCCCATGCTTTTCCTCTTGTACCACAGCTGACTCCCTTCAAGAATAAAAATGGAAAAATGTCCAACTTTTAAAACCCCAGATTCATTGTTGGGACATCCTATGCTCCTCCAGGCTCTGGCTTCTTAAAGCCCAAAGTTTTTCATTCCCTTGACCCCAATGACCTACACTGCTTTCCTTTCTTCCTCATGTCCCCTCAAGTAAATCTGAAACTCCTTAGTTCCCATAAATCATACTTTCTTCCTCACCAGAAATAAATAGGCATTTCAGAAGTTTGGTCAAAGGATTTTAGATATTTAAATGGTTCTTATTATTTCAGTACTTGAAGCAACCTTGGAGATTATCTAGTCCAACCTCTACCTTTATGGAGAAGAAACTAAAACCCAAAAAGGGAAGGTGACTTACTTAAAGCCACACAGTAAATTAGAGACAGAGCAAGGATTAGAACTACTTAAGTCAGGCCGAGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGCCAGGGCACATGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGGAGAATTACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAACCTTAGCGAGAGAGCGAGACTCTGTCTCAAAATAAATACATAAATAAGAACTAGTTAAGTCAGAAGAAGGTAACAGCTACCACTATTATGCACAGAACAGCAAAAAGAACAAGAAAACATAAAGTCAAATGTTCAACAAAATACACCTATTACCCCAGACACCAGCCCTGCCATGCAGAGGCACGGTTGCTCCAGGCTTAGCTAGACTCAGAGTGGGTTATGTTACAGGAGACCTTACCCCTGTATTGCTTTACTTATATACAGAAAAGGTGAGTGTGAGGCAGGGACCATTAGACCAACCAGCCAGTAGGAGGTTTATCACTGGAGAGTGGTTTTGCTGGAGAAGCACCCTTCTGGGGCCCATTTGCTTAGGAAGTCCATATACTAGCTCCAGTGTCAGCTGGAAACCTTGTAGCCTGTCCACTAAGCTAGCTCAGTCCTGGCAAGCTGCCTCCTTGAAAAGCTTACCACAAGGGTGTGGGGGAATATGAGACTCACCAGGACAAGCCAGCAGAGGGTTTGTCTCTGCATAGAGTCTCTAATGTAATGCTCTGTCCATTTGAATATAGGTATTATAGTATCCCTGTACAAGAGAAATCCTAGAAATGAAAGCAATGCTTTTAATTCTAACATCTATGCTCATATTTGGGTATTTTTCAAATGCTGACATTTGAATGCTCATAATTTCTATGTTGCCTATTTTCACAGTCCCTGGTCATGTGCTGTCTTGCAGGGCTCCTAATGGAGATTATAGCACAGCCAGTCTGCAGTCAGTGAAAGATGTTGTGTTCATTAACATTTTTGATGAAGTACTGCATGATGTCTTAGAGGTAAGTTCTCAGTTTTAAGAAAGACACTTGTATTCACTTTCATATCCTCTACCCACTACATAAGTTCCAATCACATTGTTACCAGAAAGGGGTCCCGATCTAGATCCTTTCTTGGATATCACACAAGAAAGAATTCAGAGCGAGTCCACAGTGCAAAGCAAAAGCGAGTTTATTAGGAAAGTAAAGTGGTGAAAGAATAGCTACTCCATAGACAGAATAGGGTGTTCTCGAAAGTAAGAGGAAGAATGCATTTACCCTAGGTACAATGCTTGTTTAGATATAGGATAAAAAAAGATCATGGGAAGATGTGCTCTGCTACAAGAGTTTGTGATAAAGGATTCGTTTTCTAAATTACTGTANN | pathogenic | 80,590 |
Chromosome 4, position 15570488, gene CC2D2A (coiled-coil and C2 domain containing 2A): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['COACH_syndrome_2', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | ATCACTTGAGGCCAGGGCACATGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGGAGAATTACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAACCTTAGCGAGAGAGCGAGACTCTGTCTCAAAATAAATACATAAATAAGAACTAGTTAAGTCAGAAGAAGGTAACAGCTACCACTATTATGCACAGAACAGCAAAAAGAACAAGAAAACATAAAGTCAAATGTTCAACAAAATACACCTATTACCCCAGACACCAGCCCTGCCATGCAGAGGCACGGTTGCTCCAGGCTTAGCTAGACTCAGAGTGGGTTATGTTACAGGAGACCTTACCCCTGTATTGCTTTACTTATATACAGAAAAGGTGAGTGTGAGGCAGGGACCATTAGACCAACCAGCCAGTAGGAGGTTTATCACTGGAGAGTGGTTTTGCTGGAGAAGCACCCTTCTGGGGCCCATTTGCTTAGGAAGTCCATATACTAGCTCCAGTGTCAGCTGGAAACCTTGTAGCCTGTCCACTAAGCTAGCTCAGTCCTGGCAAGCTGCCTCCTTGAAAAGCTTACCACAAGGGTGTGGGGGAATATGAGACTCACCAGGACAAGCCAGCAGAGGGTTTGTCTCTGCATAGAGTCTCTAATGTAATGCTCTGTCCATTTGAATATAGGTATTATAGTATCCCTGTACAAGAGAAATCCTAGAAATGAAAGCAATGCTTTTAATTCTAACATCTATGCTCATATTTGGGTATTTTTCAAATGCTGACATTTGAATGCTCATAATTTCTATGTTGCCTATTTTCACAGTCCCTGGTCATGTGCTGTCTTGCAGGGCTCCTAATGGAGATTATAGCACAGCCAGTCTGCAGTCAGTGAAAGATGTTGTGTTCATTAACATTTTTGATGAAGTACTGCATGATGTCTTAGAGGTAAGTTCTCAGTTTTAAGAAAGACACTTGTATTCACTTTCATATCCTCTACCCACTACATAAGTTCCAATCACATTGTTACCAGAAAGGGGTCCCGATCTAGATCCTTTCTTGGATATCACACAAGAAAGAATTCAGAGCGAGTCCACAGTGCAAAGCAAAAGCGAGTTTATTAGGAAAGTAAAGTGGTGAAAGAATAGCTACTCCATAGACAGAATAGGGTGTTCTCGAAAGTAAGAGGAAGAATGCATTTACCCTAGGTACAATGCTTGTTTAGATATAGGATAAAAAAAGATCATGGGAAGATGTGCTCTGCTACAAGAGTTTGTGATAAAGGATTCGTTTTCTAAATTACTGTATTTTGCAAGAATCTATTTATTATATTTAAAGCAAAATTAGGAATGCCTCTGTTCTCAAGATACCGGGATATCAGGACACTCCTAAGTCTGGGTCTGTTTAGTAAATATTATCAGTCTGTTCCCTTAACTGTAAACATCTAGAGGCCAGGAATGCCTAACTTTCTGGGAATGCAGCCCAGCAAGTCCCAGCCTCATGTTTCCTAGCCGTCACTCAAGATGGAGTCGCTTTGGTTCAAACGCCTCTGGTAACATTTTCCATCTTTCTTGTGTTTGAAATATTTGAAACTTGACATGTATCAATGGGGACAGGGGAGAGGGAGAAGGAGCTAGTTTTTTTATTTTCACTTGACTGTCTGCACTGTGCCAGGAATTGTACTAGGTGCTTTACGCACATTGTCTGATTTAATTCTAAATAATCCTATAGATTGTTAAATCTCTAGTTTATTGATGAGAAAACTGAGGTTCAGAGAGGTCAAATGACTTTCCTAGGGCCACAAAGCCATTATGTATCTGTACCAGAATTTGATTAGGTCTATCTAATATAAGTTCATATGCTTTCAGCTAAAATCTTGCTGCTTTCCTGCTGCCAGATTAATTAAATGAGTTTCTGGAGTTCTTAAGCAATTATTACTTCCCACCCTTCCTTTAGGATGACCGTGAAAGAGGAAGTGGAATCCATACTCGTATTGAGAGACACTGGCTGGGATGTGTGAAAATGCCATTTAGCACAATATATTTCCAAGCAAGGGTAAGTATCTAAAGTTAGAGGTCCATGAGAGCAGGGAATTTCTCTATCCATTTTTCCTATTAAAACGTTCTTTGTGGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCACATCATCTGAGGTCAGGAGTTGGAGATGAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAGATACAAAAAATTAGCCGGGCGTGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGGCTGAGGCAGGAGAACTGCTTGAACCAGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGTGAGAGGGCGAGACTCCATGTCAGAAAAAACAAAAACAAAAACAAACAAAAAAACTTTCTTTGTGCGATACATCCTTAACACTGGAAGAATATATATGCAAAGCCCATAGAAGGCTCAAAAGAAACAAACCTCTAAAGCCATTGATCTTCTGTCACATTTGCATTAAGTATCTATGTTCCTTACAATTAGTAGTTAATGTATGACTGTTCAAATCTGATAATTTTTTAAATATTAAATAAAGGTAAAGAATAAGGTGGGATAAAGTGGAAACTTGTCAAAACAACAAAGGTGGAATGGATAGATGCCTGAAAGTAACTTGAAGAAAACAATCAGGGCAGTTGAAAGCCCATTCAATCAAGTGCTTTCCATTAATATTTCTACAAGTCCTCACTATTTAAAACATGAAAAATGCAGAGACACGCTTAACAAAGACACCCTTCTTCAGAGTTAATGGTTTGATTAAGGGGATCCATTAAGTTGACAACTCTTGAATGACTTAGTAGCTCTAATCTAGGACAGTTAAAGGTTCTGAAATCGCTTTGAAGTCCCAGTATTAAGTCTATGGCAACAGGAGGCTTTGAATCACTGTAATGTCCACACAGGGTAAATGCTGTCTGGACCACAGACTCTCCATTAAAACCAAGACCAATGGTGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTTTAAACCAAAAAAAAAAAAAAGACCAAAACTCAAGTCTGAGAGGCTTGAATTGGTTGGTATCCCAAGAATCAATTGGAAATGCAATCTTCCCTAGGCAAAAGGGATTAGCTACAGGTTATGCAGTGACATGTTTGTCAAAATAATTTACATTTCCTTCTCTGAATAGATTTTAAATGGAAAAAAAAATTCAAGAGCACATTATTTTGCAAATCACACTGCCTGTGATAGTTGTTTGGCATTGCTAAATTTCACATTTGGGAAGGTATTCAGAAATAATTACTCTAAACTCCTTGACAAGTGAATTTCCTTCACTATATTCTGGTAATATCTGTGCTCTGTGTGGGTGTCTCTAAAACCCACTACCTTCTGAGGCAGTTTGCTCTCTTCCCAATAGCTCTGTCATAAAAGTTTTCCTTGAACTGTGCCATAATCTATATACTTCCCTGTAATTCCTATTCTTAGGTCCTGGTTCAATTCTCTGGAGCCACACATAACAAGTAGAAACCTGATTCAACAATAATAATATTAATAACAATATTTATTAGGTGCATATTATATGTTATTGCCGGGTAGTTTATACATCACCTCAATTAAACCTCACAACACAATTGGCATTGTCATCCTCATTTTATAAATGGAGAAACAGAAGCCTAGAGAGGTTAAGTAACTTGCTCAAATCACAAAGTTTACAATAGAGGTGGGATTCAACTTGTACTGGCTTTCAATATACTATCATTGCTTATGCCTGGGAAATGAGGTTGGTAAAAGCAGAGAAAACTATTGAACTTTTTTGTTTCTATGTTTCAGTACATTTTGGAGAATGACTTTATTACTTCTGTCATTTAAAAAGTTTGACTCCAAAGTGCATGCTCTCAAGTGTACCCACATTTGGTAATGTCTAAAGACATTTTTGGCTCTCACAACTAATAAGAGTT | ATCACTTGAGGCCAGGGCACATGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGGAGAATTACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAACCTTAGCGAGAGAGCGAGACTCTGTCTCAAAATAAATACATAAATAAGAACTAGTTAAGTCAGAAGAAGGTAACAGCTACCACTATTATGCACAGAACAGCAAAAAGAACAAGAAAACATAAAGTCAAATGTTCAACAAAATACACCTATTACCCCAGACACCAGCCCTGCCATGCAGAGGCACGGTTGCTCCAGGCTTAGCTAGACTCAGAGTGGGTTATGTTACAGGAGACCTTACCCCTGTATTGCTTTACTTATATACAGAAAAGGTGAGTGTGAGGCAGGGACCATTAGACCAACCAGCCAGTAGGAGGTTTATCACTGGAGAGTGGTTTTGCTGGAGAAGCACCCTTCTGGGGCCCATTTGCTTAGGAAGTCCATATACTAGCTCCAGTGTCAGCTGGAAACCTTGTAGCCTGTCCACTAAGCTAGCTCAGTCCTGGCAAGCTGCCTCCTTGAAAAGCTTACCACAAGGGTGTGGGGGAATATGAGACTCACCAGGACAAGCCAGCAGAGGGTTTGTCTCTGCATAGAGTCTCTAATGTAATGCTCTGTCCATTTGAATATAGGTATTATAGTATCCCTGTACAAGAGAAATCCTAGAAATGAAAGCAATGCTTTTAATTCTAACATCTATGCTCATATTTGGGTATTTTTCAAATGCTGACATTTGAATGCTCATAATTTCTATGTTGCCTATTTTCACAGTCCCTGGTCATGTGCTGTCTTGCAGGGCTCCTAATGGAGATTATAGCACAGCCAGTCTGCAGTCAGTGAAAGATGTTGTGTTCATTAACATTTTTGATGAAGTACTGCATGATGTCTTAGAGGTAAGTTCTCAGTTTTAAGAAAGACACTTGTATTCACTTTCATATCCTCTACCCACTACATAAGTTCCAATCACATTGTTACCAGAAAGGGGTCCCGATCTAGATCCTTTCTTGGATATCACACAAGAAAGAATTCAGAGCGAGTCCACAGTGCAAAGCAAAAGCGAGTTTATTAGGAAAGTAAAGTGGTGAAAGAATAGCTACTCCATAGACAGAATAGGGTGTTCTCGAAAGTAAGAGGAAGAATGCATTTACCCTAGGTACAATGCTTGTTTAGATATAGGATAAAAAAAGATCATGGGAAGATGTGCTCTGCTACAAGAGTTTGTGATAAAGGATTCGTTTTCTAAATTACTGTATTTTGCAAGAATCTATTTATTATATTTAAAGCAAAATTAGGAATGCCTCTGTTCTCAAGATACCGGGATATCAGGACACTCCTAAGTCTGGGTCTGTTTAGTAAATATTATCAGTCTGTTCCCTTAACTGTAAACATCTAGAGGCCAGGAATGCCTAACTTTCTGGGAATGCAGCCCAGCAAGTCCCAGCCTCATGTTTCCTAGCCGTCACTCAAGATGGAGTCGCTTTGGTTCAAACGCCTCTGGTAACATTTTCCATCTTTCTTGTGTTTGAAATATTTGAAACTTGACATGTATCAATGGGGACAGGGGAGAGGGAGAAGGAGCTAGTTTTTTTATTTTCACTTGACTGTCTGCACTGTGCCAGGAATTGTACTAGGTGCTTTACGCACATTGTCTGATTTAATTCTAAATAATCCTATAGATTGTTAAATCTCTAGTTTATTGATGAGAAAACTGAGGTTCAGAGAGGTCAAATGACTTTCCTAGGGCCACAAAGCCATTATGTATCTGTACCAGAATTTGATTAGGTCTATCTAATATAAGTTCATATGCTTTCAGCTAAAATCTTGCTGCTTTCCTGCTGCCAGATTAATTAAATGAGTTTCTGGAGTTCTTAAGCAATTATTACTTCCCACCCTTCCTTTAGGATGACCGTGAAAGAGGAAGTGGAATCCATACTCGTATTGAGAGACACTGGCTGGGATGTGTGAAAATGCCATTTAGCACAATATATTTCCAGCAAGGGTAAGTATCTAAAGTTAGAGGTCCATGAGAGCAGGGAATTTCTCTATCCATTTTTCCTATTAAAACGTTCTTTGTGGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCACATCATCTGAGGTCAGGAGTTGGAGATGAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAGATACAAAAAATTAGCCGGGCGTGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGGCTGAGGCAGGAGAACTGCTTGAACCAGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGTGAGAGGGCGAGACTCCATGTCAGAAAAAACAAAAACAAAAACAAACAAAAAAACTTTCTTTGTGCGATACATCCTTAACACTGGAAGAATATATATGCAAAGCCCATAGAAGGCTCAAAAGAAACAAACCTCTAAAGCCATTGATCTTCTGTCACATTTGCATTAAGTATCTATGTTCCTTACAATTAGTAGTTAATGTATGACTGTTCAAATCTGATAATTTTTTAAATATTAAATAAAGGTAAAGAATAAGGTGGGATAAAGTGGAAACTTGTCAAAACAACAAAGGTGGAATGGATAGATGCCTGAAAGTAACTTGAAGAAAACAATCAGGGCAGTTGAAAGCCCATTCAATCAAGTGCTTTCCATTAATATTTCTACAAGTCCTCACTATTTAAAACATGAAAAATGCAGAGACACGCTTAACAAAGACACCCTTCTTCAGAGTTAATGGTTTGATTAAGGGGATCCATTAAGTTGACAACTCTTGAATGACTTAGTAGCTCTAATCTAGGACAGTTAAAGGTTCTGAAATCGCTTTGAAGTCCCAGTATTAAGTCTATGGCAACAGGAGGCTTTGAATCACTGTAATGTCCACACAGGGTAAATGCTGTCTGGACCACAGACTCTCCATTAAAACCAAGACCAATGGTGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTTTAAACCAAAAAAAAAAAAAAGACCAAAACTCAAGTCTGAGAGGCTTGAATTGGTTGGTATCCCAAGAATCAATTGGAAATGCAATCTTCCCTAGGCAAAAGGGATTAGCTACAGGTTATGCAGTGACATGTTTGTCAAAATAATTTACATTTCCTTCTCTGAATAGATTTTAAATGGAAAAAAAAATTCAAGAGCACATTATTTTGCAAATCACACTGCCTGTGATAGTTGTTTGGCATTGCTAAATTTCACATTTGGGAAGGTATTCAGAAATAATTACTCTAAACTCCTTGACAAGTGAATTTCCTTCACTATATTCTGGTAATATCTGTGCTCTGTGTGGGTGTCTCTAAAACCCACTACCTTCTGAGGCAGTTTGCTCTCTTCCCAATAGCTCTGTCATAAAAGTTTTCCTTGAACTGTGCCATAATCTATATACTTCCCTGTAATTCCTATTCTTAGGTCCTGGTTCAATTCTCTGGAGCCACACATAACAAGTAGAAACCTGATTCAACAATAATAATATTAATAACAATATTTATTAGGTGCATATTATATGTTATTGCCGGGTAGTTTATACATCACCTCAATTAAACCTCACAACACAATTGGCATTGTCATCCTCATTTTATAAATGGAGAAACAGAAGCCTAGAGAGGTTAAGTAACTTGCTCAAATCACAAAGTTTACAATAGAGGTGGGATTCAACTTGTACTGGCTTTCAATATACTATCATTGCTTATGCCTGGGAAATGAGGTTGGTAAAAGCAGAGAAAACTATTGAACTTTTTTGTTTCTATGTTTCAGTACATTTTGGAGAATGACTTTATTACTTCTGTCATTTAAAAAGTTTGACTCCAAAGTGCATGCTCTCAAGTGTACCCACATTTGGTAATGTCTAAAGACATTTTTGGCTCTCACAACTAATAAGAGTTN | pathogenic | 80,598 |
Considering the genetic mutation at chromosome 4, position 15574148, impacting CC2D2A (coiled-coil and C2 domain containing 2A): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['COACH_syndrome_2', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | AGAAACCTGATTCAACAATAATAATATTAATAACAATATTTATTAGGTGCATATTATATGTTATTGCCGGGTAGTTTATACATCACCTCAATTAAACCTCACAACACAATTGGCATTGTCATCCTCATTTTATAAATGGAGAAACAGAAGCCTAGAGAGGTTAAGTAACTTGCTCAAATCACAAAGTTTACAATAGAGGTGGGATTCAACTTGTACTGGCTTTCAATATACTATCATTGCTTATGCCTGGGAAATGAGGTTGGTAAAAGCAGAGAAAACTATTGAACTTTTTTGTTTCTATGTTTCAGTACATTTTGGAGAATGACTTTATTACTTCTGTCATTTAAAAAGTTTGACTCCAAAGTGCATGCTCTCAAGTGTACCCACATTTGGTAATGTCTAAAGACATTTTTGGCTCTCACAACTAATAAGAGTTGGTACTGCCACTGACATCTAGTGTGCAGATGCTAGGGATGCTGCTGAACATCCTACAATGCACAGGACAGACCTCCATAGCAAGCAATTATCTGGCCAAATATCTATAGTGCCTGTATTAGGGTTCTCTAAACGGACAGGACTAATAGGATAGATATATATATATGAAAGGAAGTTTATTAGGAGAAGTGACCACACGATCACAAGGTGAAGTCCCACAACAGGCCATCTGCAAGCTGAGGAGCAAGGAAGCCAATCCGAGTCCCAAAACCTCAAAAGTAGGGAAGCTGACAGTGCAGCCTTCAGTCTGGGCTGAAGGCCCTAGATCCCCTAGCAAACTACTGGTGTAAGTCCAAGAGTCCAAAAACTGAAGAACTTGGAGTCTAATGTTTGAGGGCAGGAAGCATCCAGCATGGGAGAAAGATGAAGGGGGGAAGACTCAGCCAGTCTAGTCCTTCCACATTCTTCTGCCTGCTCTTCTCCTAGCCATGCTGGCAGCTGATCAGATGGTGCCCACCCAGTCCACTGACTCAAATGTTAATCTCCCTTGGCAGCACACTCACAGACACACCCAGGAACAATACTTTGTATCCTTCAGTCCAATCGATACTTAACCACCATAGTGCCCAAGCTGAGAAACCCTGTCTTAAATCCTTATACTTCAAATCTTCAAAAATGGCACACATTCCTTCCTGTGTCATCTATTTTACAGAATAAACAAGCTCGGTTATTTCAGCTGTACTTTCCATGCCATAGTTTTTTGTTTTCGTTTTTGAGACAGAGTCTGGTTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTGTCCTGTGTCAGCCTCCCAAGTAGCTGGGACCACAGGCGTGTGCCACCACACCTGGCTAATTTTTGTATTTTTGGTAAAGATGGAGTTTCACCTTGTTGGCCAGGCTTGTCTCAAACTCCTGACCTCAAGTGCTCTACCTGCCTCGGCCTCCCAAAGTGCTGGGATATCTGGCGTGAGCCACTGTGCCTGGCCTGCCATCGTTTTTATACTCTTGTTTTCCTGTATCCTTAGATAACATTTGATCTAAGCTTTGGAATATAATTAAAATTCTGAAAAATGGAGATGGGAAGTTGGGCATTCTAGAAATGGGGAATGGCCAGTAGCCAATATTTATTGATTGCTTACCATATGCTGGACATTTTTCTTAGTGTTTTATATCTATTCATTCACTACTCATAACAACCCCACAAAGTAGATACTATTATTGTCTCTTTTTACTAATGAGGAAGCCTCAGATTCCTCATTTGTAAACCAAGTTTTGAACCCAAAACTGCGTTTAAACCAAGACTTGAACCTAAGCAAATTGTATATTCAGTACACCCTCTGCTAAACAATGAAAAGAAGGCAAGGAAGTACAGAGCCCTTTCTGGCGAGTGCTTAGAGAGATGAGATTAGAAAGATGGGATTGGCTTTGAATGCCAGTCTGAGCAATTTTGGTTCAATTTATTAAACAATGAGGAGTTGACACTTGCCTCTCAACTTCTGTTGGAAAAAGCATCAGGATGTTTACCAAGTCATATTTTCTTCACAGATTGATGGAACATTTAAAATAGATATTCCCCCAGTTCTTCTGGGCTACAGTAAGGAGCGAAATATGATTCTTGAGCGGGGTTTTGATTCTGTCCGAAGCTTAAGTGAAGGCTCCTACATTACCCTCTTTATTACCATTGAGCCCCAGCTGGTTCCTGGAGAGTCCATTCGAGAAAAGGTAACTACTTATAGTTTGGAAACCCATGTCTATGTTGATAAAACACAAGAAATGCTTGCTAGGCTATACTTTTATGAACTTTTTCCTACACAAACAGAGCCTTCCTTACTTCAATCTCCATTTATTATTCTTTCAGTTTAGATAGAATGGTGGTGAGAAAACAGATGTGTGGGTTTGTACTTTCACTGAACCAGTAATCGGGTCAATCAGCAATATGTTTATATTTATCTTGCTTTGCCTAAAACTTAAGACTTTTAGTCAAAGCAAGACAAATATAAACATGCTCTACTTCTAGAAGAATGTTCTCAATGTGAAGAAAATGAAATATCACAAACTAGAATATCAGATTGCTCTTTTATTTGACAAGTATTGGCAAGAATACATTTCCATGTCTGATCTTACATCCTTGGCTATGGTATGCATTGAATCAATTCATAGGATCATAAGACTAGATGACCTTCATGAGTCACCTCAATTCATTTCATGAAATAAATATATGTACAAGTATGCTTTTAAACAGCTCTAGAAAAGAGTTTCCAGAACTTTCACTGGTTAGCAACTGTCCCTGAACCTTCATTAAACCTATTTATGCCTAGTGTTCCATTACTGGAACGCTACGCATGTGGGAGTTATTTATATCCTACCTCTCAAGGTCATTTCCAAGGTCTGATTGCAAAAATTCAAAAAATTGCAACCTCAGGCATAAATGTGTTAAGAAATAAATGTCTTCCTGTAACATAGTTGTATAGCATTTATACATACTGCCCTCATTGGATTTGGGAGAATATATTGATGGTGACCTCTTATTCATATGTAAACAAATACAGTAATAACATCAACAACAACCACCATGATGTACTGAATCCGTACTCTGTCCTTAGCACTATGTCAAACCTTGGATGCATGTTCTGACCTGAATATGCATAGGTGTCTTGGACAAGGGGTCTCCAACTTACAGAAGAGGAAAATAAGCTTCAATTTATGCAGGGTGACATAGGCAGAGGTAACACATGTCTGTCTGACTCTAAACTGTACATATTCAGCATATATTTACTGCACATCTTCTGTGTGACAGACATTTCTTAGGCACTGGGAGTACAGTAGGCTAGAAAAGCAAATAAAAATTCCTCCAAGCTTACATTCACATGTAAGCGTAAGTTGTTAACTACTAACCTATAGTGCACAGATTATTGTGCTTACTCTAGTCTATCCATTATAATTAAGACTTAGATAGAGATGGAAAAAAACAAACATACTCCTTTTTTTCCAGTATTACAATTTGGTTCCCAGAGAAAAATATCATCACTATCTCCCATCTGCAATGCACTGAAATTTAAATTAATTGTATATTTTGTCAGTAAAACAGTGCTTCTCTAGATATATGCATTTCAAAATATTTTAGAAAGGGAAAATATATTCTGAATGTTTGTCTTCATGTATAATATAAATTCAAATGAACGCCAATAAACATGTTTACACACAAAAATACTTCCAGACAAAAGATGATTTTGCTGTTTCTATGTATATGTAACAGAAGAACAGGCAGTCAGCTAGGACCCCACCTTGGGGGTGTGTTTCTAAAACACGTGAAAGCAGTCTATCCTGGCAGAAAGGATGAAAGCCCAAGACTCCTCCACACTAGGCATCCCTCACGGGCCCTGACTTCTTACTGCAGGACTTTAAAGAGGCCTCCAGGGCTCTGAACCACAGTCCTCAAGTCCTGCAGCCTTCCTTCCCTAAAGCTATTAAATGGCAGTCAGATTCTGCCTTTGGTGGCAGGTCACTACCGCACTGTGGCTGTAGAAAGCATTTATCTTAGACCTCTAAAATGAGGGCTTAAAAAACCCCTATGGAAGGCAGATTCTTTGT | AGAAACCTGATTCAACAATAATAATATTAATAACAATATTTATTAGGTGCATATTATATGTTATTGCCGGGTAGTTTATACATCACCTCAATTAAACCTCACAACACAATTGGCATTGTCATCCTCATTTTATAAATGGAGAAACAGAAGCCTAGAGAGGTTAAGTAACTTGCTCAAATCACAAAGTTTACAATAGAGGTGGGATTCAACTTGTACTGGCTTTCAATATACTATCATTGCTTATGCCTGGGAAATGAGGTTGGTAAAAGCAGAGAAAACTATTGAACTTTTTTGTTTCTATGTTTCAGTACATTTTGGAGAATGACTTTATTACTTCTGTCATTTAAAAAGTTTGACTCCAAAGTGCATGCTCTCAAGTGTACCCACATTTGGTAATGTCTAAAGACATTTTTGGCTCTCACAACTAATAAGAGTTGGTACTGCCACTGACATCTAGTGTGCAGATGCTAGGGATGCTGCTGAACATCCTACAATGCACAGGACAGACCTCCATAGCAAGCAATTATCTGGCCAAATATCTATAGTGCCTGTATTAGGGTTCTCTAAACGGACAGGACTAATAGGATAGATATATATATATGAAAGGAAGTTTATTAGGAGAAGTGACCACACGATCACAAGGTGAAGTCCCACAACAGGCCATCTGCAAGCTGAGGAGCAAGGAAGCCAATCCGAGTCCCAAAACCTCAAAAGTAGGGAAGCTGACAGTGCAGCCTTCAGTCTGGGCTGAAGGCCCTAGATCCCCTAGCAAACTACTGGTGTAAGTCCAAGAGTCCAAAAACTGAAGAACTTGGAGTCTAATGTTTGAGGGCAGGAAGCATCCAGCATGGGAGAAAGATGAAGGGGGGAAGACTCAGCCAGTCTAGTCCTTCCACATTCTTCTGCCTGCTCTTCTCCTAGCCATGCTGGCAGCTGATCAGATGGTGCCCACCCAGTCCACTGACTCAAATGTTAATCTCCCTTGGCAGCACACTCACAGACACACCCAGGAACAATACTTTGTATCCTTCAGTCCAATCGATACTTAACCACCATAGTGCCCAAGCTGAGAAACCCTGTCTTAAATCCTTATACTTCAAATCTTCAAAAATGGCACACATTCCTTCCTGTGTCATCTATTTTACAGAATAAACAAGCTCGGTTATTTCAGCTGTACTTTCCATGCCATAGTTTTTTGTTTTCGTTTTTGAGACAGAGTCTGGTTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTGTCCTGTGTCAGCCTCCCAAGTAGCTGGGACCACAGGCGTGTGCCACCACACCTGGCTAATTTTTGTATTTTTGGTAAAGATGGAGTTTCACCTTGTTGGCCAGGCTTGTCTCAAACTCCTGACCTCAAGTGCTCTACCTGCCTCGGCCTCCCAAAGTGCTGGGATATCTGGCGTGAGCCACTGTGCCTGGCCTGCCATCGTTTTTATACTCTTGTTTTCCTGTATCCTTAGATAACATTTGATCTAAGCTTTGGAATATAATTAAAATTCTGAAAAATGGAGATGGGAAGTTGGGCATTCTAGAAATGGGGAATGGCCAGTAGCCAATATTTATTGATTGCTTACCATATGCTGGACATTTTTCTTAGTGTTTTATATCTATTCATTCACTACTCATAACAACCCCACAAAGTAGATACTATTATTGTCTCTTTTTACTAATGAGGAAGCCTCAGATTCCTCATTTGTAAACCAAGTTTTGAACCCAAAACTGCGTTTAAACCAAGACTTGAACCTAAGCAAATTGTATATTCAGTACACCCTCTGCTAAACAATGAAAAGAAGGCAAGGAAGTACAGAGCCCTTTCTGGCGAGTGCTTAGAGAGATGAGATTAGAAAGATGGGATTGGCTTTGAATGCCAGTCTGAGCAATTTTGGTTCAATTTATTAAACAATGAGGAGTTGACACTTGCCTCTCAACTTCTGTTGGAAAAAGCATCAGGATGTTTACCAAGTCATATTTTCTTCACAGATGGAACATTTAAAATAGATATTCCCCCAGTTCTTCTGGGCTACAGTAAGGAGCGAAATATGATTCTTGAGCGGGGTTTTGATTCTGTCCGAAGCTTAAGTGAAGGCTCCTACATTACCCTCTTTATTACCATTGAGCCCCAGCTGGTTCCTGGAGAGTCCATTCGAGAAAAGGTAACTACTTATAGTTTGGAAACCCATGTCTATGTTGATAAAACACAAGAAATGCTTGCTAGGCTATACTTTTATGAACTTTTTCCTACACAAACAGAGCCTTCCTTACTTCAATCTCCATTTATTATTCTTTCAGTTTAGATAGAATGGTGGTGAGAAAACAGATGTGTGGGTTTGTACTTTCACTGAACCAGTAATCGGGTCAATCAGCAATATGTTTATATTTATCTTGCTTTGCCTAAAACTTAAGACTTTTAGTCAAAGCAAGACAAATATAAACATGCTCTACTTCTAGAAGAATGTTCTCAATGTGAAGAAAATGAAATATCACAAACTAGAATATCAGATTGCTCTTTTATTTGACAAGTATTGGCAAGAATACATTTCCATGTCTGATCTTACATCCTTGGCTATGGTATGCATTGAATCAATTCATAGGATCATAAGACTAGATGACCTTCATGAGTCACCTCAATTCATTTCATGAAATAAATATATGTACAAGTATGCTTTTAAACAGCTCTAGAAAAGAGTTTCCAGAACTTTCACTGGTTAGCAACTGTCCCTGAACCTTCATTAAACCTATTTATGCCTAGTGTTCCATTACTGGAACGCTACGCATGTGGGAGTTATTTATATCCTACCTCTCAAGGTCATTTCCAAGGTCTGATTGCAAAAATTCAAAAAATTGCAACCTCAGGCATAAATGTGTTAAGAAATAAATGTCTTCCTGTAACATAGTTGTATAGCATTTATACATACTGCCCTCATTGGATTTGGGAGAATATATTGATGGTGACCTCTTATTCATATGTAAACAAATACAGTAATAACATCAACAACAACCACCATGATGTACTGAATCCGTACTCTGTCCTTAGCACTATGTCAAACCTTGGATGCATGTTCTGACCTGAATATGCATAGGTGTCTTGGACAAGGGGTCTCCAACTTACAGAAGAGGAAAATAAGCTTCAATTTATGCAGGGTGACATAGGCAGAGGTAACACATGTCTGTCTGACTCTAAACTGTACATATTCAGCATATATTTACTGCACATCTTCTGTGTGACAGACATTTCTTAGGCACTGGGAGTACAGTAGGCTAGAAAAGCAAATAAAAATTCCTCCAAGCTTACATTCACATGTAAGCGTAAGTTGTTAACTACTAACCTATAGTGCACAGATTATTGTGCTTACTCTAGTCTATCCATTATAATTAAGACTTAGATAGAGATGGAAAAAAACAAACATACTCCTTTTTTTCCAGTATTACAATTTGGTTCCCAGAGAAAAATATCATCACTATCTCCCATCTGCAATGCACTGAAATTTAAATTAATTGTATATTTTGTCAGTAAAACAGTGCTTCTCTAGATATATGCATTTCAAAATATTTTAGAAAGGGAAAATATATTCTGAATGTTTGTCTTCATGTATAATATAAATTCAAATGAACGCCAATAAACATGTTTACACACAAAAATACTTCCAGACAAAAGATGATTTTGCTGTTTCTATGTATATGTAACAGAAGAACAGGCAGTCAGCTAGGACCCCACCTTGGGGGTGTGTTTCTAAAACACGTGAAAGCAGTCTATCCTGGCAGAAAGGATGAAAGCCCAAGACTCCTCCACACTAGGCATCCCTCACGGGCCCTGACTTCTTACTGCAGGACTTTAAAGAGGCCTCCAGGGCTCTGAACCACAGTCCTCAAGTCCTGCAGCCTTCCTTCCCTAAAGCTATTAAATGGCAGTCAGATTCTGCCTTTGGTGGCAGGTCACTACCGCACTGTGGCTGTAGAAAGCATTTATCTTAGACCTCTAAAATGAGGGCTTAAAAAACCCCTATGGAAGGCAGATTCTTTGTNNNN | pathogenic | 80,601 |
Is the chromosome 4, position 15574231 variant in CC2D2A (coiled-coil and C2 domain containing 2A) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['COACH_syndrome_2', 'Joubert_syndrome_9', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | CACCTCAATTAAACCTCACAACACAATTGGCATTGTCATCCTCATTTTATAAATGGAGAAACAGAAGCCTAGAGAGGTTAAGTAACTTGCTCAAATCACAAAGTTTACAATAGAGGTGGGATTCAACTTGTACTGGCTTTCAATATACTATCATTGCTTATGCCTGGGAAATGAGGTTGGTAAAAGCAGAGAAAACTATTGAACTTTTTTGTTTCTATGTTTCAGTACATTTTGGAGAATGACTTTATTACTTCTGTCATTTAAAAAGTTTGACTCCAAAGTGCATGCTCTCAAGTGTACCCACATTTGGTAATGTCTAAAGACATTTTTGGCTCTCACAACTAATAAGAGTTGGTACTGCCACTGACATCTAGTGTGCAGATGCTAGGGATGCTGCTGAACATCCTACAATGCACAGGACAGACCTCCATAGCAAGCAATTATCTGGCCAAATATCTATAGTGCCTGTATTAGGGTTCTCTAAACGGACAGGACTAATAGGATAGATATATATATATGAAAGGAAGTTTATTAGGAGAAGTGACCACACGATCACAAGGTGAAGTCCCACAACAGGCCATCTGCAAGCTGAGGAGCAAGGAAGCCAATCCGAGTCCCAAAACCTCAAAAGTAGGGAAGCTGACAGTGCAGCCTTCAGTCTGGGCTGAAGGCCCTAGATCCCCTAGCAAACTACTGGTGTAAGTCCAAGAGTCCAAAAACTGAAGAACTTGGAGTCTAATGTTTGAGGGCAGGAAGCATCCAGCATGGGAGAAAGATGAAGGGGGGAAGACTCAGCCAGTCTAGTCCTTCCACATTCTTCTGCCTGCTCTTCTCCTAGCCATGCTGGCAGCTGATCAGATGGTGCCCACCCAGTCCACTGACTCAAATGTTAATCTCCCTTGGCAGCACACTCACAGACACACCCAGGAACAATACTTTGTATCCTTCAGTCCAATCGATACTTAACCACCATAGTGCCCAAGCTGAGAAACCCTGTCTTAAATCCTTATACTTCAAATCTTCAAAAATGGCACACATTCCTTCCTGTGTCATCTATTTTACAGAATAAACAAGCTCGGTTATTTCAGCTGTACTTTCCATGCCATAGTTTTTTGTTTTCGTTTTTGAGACAGAGTCTGGTTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTGTCCTGTGTCAGCCTCCCAAGTAGCTGGGACCACAGGCGTGTGCCACCACACCTGGCTAATTTTTGTATTTTTGGTAAAGATGGAGTTTCACCTTGTTGGCCAGGCTTGTCTCAAACTCCTGACCTCAAGTGCTCTACCTGCCTCGGCCTCCCAAAGTGCTGGGATATCTGGCGTGAGCCACTGTGCCTGGCCTGCCATCGTTTTTATACTCTTGTTTTCCTGTATCCTTAGATAACATTTGATCTAAGCTTTGGAATATAATTAAAATTCTGAAAAATGGAGATGGGAAGTTGGGCATTCTAGAAATGGGGAATGGCCAGTAGCCAATATTTATTGATTGCTTACCATATGCTGGACATTTTTCTTAGTGTTTTATATCTATTCATTCACTACTCATAACAACCCCACAAAGTAGATACTATTATTGTCTCTTTTTACTAATGAGGAAGCCTCAGATTCCTCATTTGTAAACCAAGTTTTGAACCCAAAACTGCGTTTAAACCAAGACTTGAACCTAAGCAAATTGTATATTCAGTACACCCTCTGCTAAACAATGAAAAGAAGGCAAGGAAGTACAGAGCCCTTTCTGGCGAGTGCTTAGAGAGATGAGATTAGAAAGATGGGATTGGCTTTGAATGCCAGTCTGAGCAATTTTGGTTCAATTTATTAAACAATGAGGAGTTGACACTTGCCTCTCAACTTCTGTTGGAAAAAGCATCAGGATGTTTACCAAGTCATATTTTCTTCACAGATTGATGGAACATTTAAAATAGATATTCCCCCAGTTCTTCTGGGCTACAGTAAGGAGCGAAATATGATTCTTGAGCGGGGTTTTGATTCTGTCCGAAGCTTAAGTGAAGGCTCCTACATTACCCTCTTTATTACCATTGAGCCCCAGCTGGTTCCTGGAGAGTCCATTCGAGAAAAGGTAACTACTTATAGTTTGGAAACCCATGTCTATGTTGATAAAACACAAGAAATGCTTGCTAGGCTATACTTTTATGAACTTTTTCCTACACAAACAGAGCCTTCCTTACTTCAATCTCCATTTATTATTCTTTCAGTTTAGATAGAATGGTGGTGAGAAAACAGATGTGTGGGTTTGTACTTTCACTGAACCAGTAATCGGGTCAATCAGCAATATGTTTATATTTATCTTGCTTTGCCTAAAACTTAAGACTTTTAGTCAAAGCAAGACAAATATAAACATGCTCTACTTCTAGAAGAATGTTCTCAATGTGAAGAAAATGAAATATCACAAACTAGAATATCAGATTGCTCTTTTATTTGACAAGTATTGGCAAGAATACATTTCCATGTCTGATCTTACATCCTTGGCTATGGTATGCATTGAATCAATTCATAGGATCATAAGACTAGATGACCTTCATGAGTCACCTCAATTCATTTCATGAAATAAATATATGTACAAGTATGCTTTTAAACAGCTCTAGAAAAGAGTTTCCAGAACTTTCACTGGTTAGCAACTGTCCCTGAACCTTCATTAAACCTATTTATGCCTAGTGTTCCATTACTGGAACGCTACGCATGTGGGAGTTATTTATATCCTACCTCTCAAGGTCATTTCCAAGGTCTGATTGCAAAAATTCAAAAAATTGCAACCTCAGGCATAAATGTGTTAAGAAATAAATGTCTTCCTGTAACATAGTTGTATAGCATTTATACATACTGCCCTCATTGGATTTGGGAGAATATATTGATGGTGACCTCTTATTCATATGTAAACAAATACAGTAATAACATCAACAACAACCACCATGATGTACTGAATCCGTACTCTGTCCTTAGCACTATGTCAAACCTTGGATGCATGTTCTGACCTGAATATGCATAGGTGTCTTGGACAAGGGGTCTCCAACTTACAGAAGAGGAAAATAAGCTTCAATTTATGCAGGGTGACATAGGCAGAGGTAACACATGTCTGTCTGACTCTAAACTGTACATATTCAGCATATATTTACTGCACATCTTCTGTGTGACAGACATTTCTTAGGCACTGGGAGTACAGTAGGCTAGAAAAGCAAATAAAAATTCCTCCAAGCTTACATTCACATGTAAGCGTAAGTTGTTAACTACTAACCTATAGTGCACAGATTATTGTGCTTACTCTAGTCTATCCATTATAATTAAGACTTAGATAGAGATGGAAAAAAACAAACATACTCCTTTTTTTCCAGTATTACAATTTGGTTCCCAGAGAAAAATATCATCACTATCTCCCATCTGCAATGCACTGAAATTTAAATTAATTGTATATTTTGTCAGTAAAACAGTGCTTCTCTAGATATATGCATTTCAAAATATTTTAGAAAGGGAAAATATATTCTGAATGTTTGTCTTCATGTATAATATAAATTCAAATGAACGCCAATAAACATGTTTACACACAAAAATACTTCCAGACAAAAGATGATTTTGCTGTTTCTATGTATATGTAACAGAAGAACAGGCAGTCAGCTAGGACCCCACCTTGGGGGTGTGTTTCTAAAACACGTGAAAGCAGTCTATCCTGGCAGAAAGGATGAAAGCCCAAGACTCCTCCACACTAGGCATCCCTCACGGGCCCTGACTTCTTACTGCAGGACTTTAAAGAGGCCTCCAGGGCTCTGAACCACAGTCCTCAAGTCCTGCAGCCTTCCTTCCCTAAAGCTATTAAATGGCAGTCAGATTCTGCCTTTGGTGGCAGGTCACTACCGCACTGTGGCTGTAGAAAGCATTTATCTTAGACCTCTAAAATGAGGGCTTAAAAAACCCCTATGGAAGGCAGATTCTTTGTGGCTGTTTGATAAGGAAGGCATGTTGATTGACAGAACCCTTATGTCCAAAAGAGGCAGTGGCAGAAAACACTGCTCAGTGATT | CACCTCAATTAAACCTCACAACACAATTGGCATTGTCATCCTCATTTTATAAATGGAGAAACAGAAGCCTAGAGAGGTTAAGTAACTTGCTCAAATCACAAAGTTTACAATAGAGGTGGGATTCAACTTGTACTGGCTTTCAATATACTATCATTGCTTATGCCTGGGAAATGAGGTTGGTAAAAGCAGAGAAAACTATTGAACTTTTTTGTTTCTATGTTTCAGTACATTTTGGAGAATGACTTTATTACTTCTGTCATTTAAAAAGTTTGACTCCAAAGTGCATGCTCTCAAGTGTACCCACATTTGGTAATGTCTAAAGACATTTTTGGCTCTCACAACTAATAAGAGTTGGTACTGCCACTGACATCTAGTGTGCAGATGCTAGGGATGCTGCTGAACATCCTACAATGCACAGGACAGACCTCCATAGCAAGCAATTATCTGGCCAAATATCTATAGTGCCTGTATTAGGGTTCTCTAAACGGACAGGACTAATAGGATAGATATATATATATGAAAGGAAGTTTATTAGGAGAAGTGACCACACGATCACAAGGTGAAGTCCCACAACAGGCCATCTGCAAGCTGAGGAGCAAGGAAGCCAATCCGAGTCCCAAAACCTCAAAAGTAGGGAAGCTGACAGTGCAGCCTTCAGTCTGGGCTGAAGGCCCTAGATCCCCTAGCAAACTACTGGTGTAAGTCCAAGAGTCCAAAAACTGAAGAACTTGGAGTCTAATGTTTGAGGGCAGGAAGCATCCAGCATGGGAGAAAGATGAAGGGGGGAAGACTCAGCCAGTCTAGTCCTTCCACATTCTTCTGCCTGCTCTTCTCCTAGCCATGCTGGCAGCTGATCAGATGGTGCCCACCCAGTCCACTGACTCAAATGTTAATCTCCCTTGGCAGCACACTCACAGACACACCCAGGAACAATACTTTGTATCCTTCAGTCCAATCGATACTTAACCACCATAGTGCCCAAGCTGAGAAACCCTGTCTTAAATCCTTATACTTCAAATCTTCAAAAATGGCACACATTCCTTCCTGTGTCATCTATTTTACAGAATAAACAAGCTCGGTTATTTCAGCTGTACTTTCCATGCCATAGTTTTTTGTTTTCGTTTTTGAGACAGAGTCTGGTTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTGTCCTGTGTCAGCCTCCCAAGTAGCTGGGACCACAGGCGTGTGCCACCACACCTGGCTAATTTTTGTATTTTTGGTAAAGATGGAGTTTCACCTTGTTGGCCAGGCTTGTCTCAAACTCCTGACCTCAAGTGCTCTACCTGCCTCGGCCTCCCAAAGTGCTGGGATATCTGGCGTGAGCCACTGTGCCTGGCCTGCCATCGTTTTTATACTCTTGTTTTCCTGTATCCTTAGATAACATTTGATCTAAGCTTTGGAATATAATTAAAATTCTGAAAAATGGAGATGGGAAGTTGGGCATTCTAGAAATGGGGAATGGCCAGTAGCCAATATTTATTGATTGCTTACCATATGCTGGACATTTTTCTTAGTGTTTTATATCTATTCATTCACTACTCATAACAACCCCACAAAGTAGATACTATTATTGTCTCTTTTTACTAATGAGGAAGCCTCAGATTCCTCATTTGTAAACCAAGTTTTGAACCCAAAACTGCGTTTAAACCAAGACTTGAACCTAAGCAAATTGTATATTCAGTACACCCTCTGCTAAACAATGAAAAGAAGGCAAGGAAGTACAGAGCCCTTTCTGGCGAGTGCTTAGAGAGATGAGATTAGAAAGATGGGATTGGCTTTGAATGCCAGTCTGAGCAATTTTGGTTCAATTTATTAAACAATGAGGAGTTGACACTTGCCTCTCAACTTCTGTTGGAAAAAGCATCAGGATGTTTACCAAGTCATATTTTCTTCACAGATTGATGGAACATTTAAAATAGATATTCCCCCAGTTCTTCTGGGCTACAGTAAGGAGCGAAATATGATTCTTGAGCGGGGTTTTCTGTCCGAAGCTTAAGTGAAGGCTCCTACATTACCCTCTTTATTACCATTGAGCCCCAGCTGGTTCCTGGAGAGTCCATTCGAGAAAAGGTAACTACTTATAGTTTGGAAACCCATGTCTATGTTGATAAAACACAAGAAATGCTTGCTAGGCTATACTTTTATGAACTTTTTCCTACACAAACAGAGCCTTCCTTACTTCAATCTCCATTTATTATTCTTTCAGTTTAGATAGAATGGTGGTGAGAAAACAGATGTGTGGGTTTGTACTTTCACTGAACCAGTAATCGGGTCAATCAGCAATATGTTTATATTTATCTTGCTTTGCCTAAAACTTAAGACTTTTAGTCAAAGCAAGACAAATATAAACATGCTCTACTTCTAGAAGAATGTTCTCAATGTGAAGAAAATGAAATATCACAAACTAGAATATCAGATTGCTCTTTTATTTGACAAGTATTGGCAAGAATACATTTCCATGTCTGATCTTACATCCTTGGCTATGGTATGCATTGAATCAATTCATAGGATCATAAGACTAGATGACCTTCATGAGTCACCTCAATTCATTTCATGAAATAAATATATGTACAAGTATGCTTTTAAACAGCTCTAGAAAAGAGTTTCCAGAACTTTCACTGGTTAGCAACTGTCCCTGAACCTTCATTAAACCTATTTATGCCTAGTGTTCCATTACTGGAACGCTACGCATGTGGGAGTTATTTATATCCTACCTCTCAAGGTCATTTCCAAGGTCTGATTGCAAAAATTCAAAAAATTGCAACCTCAGGCATAAATGTGTTAAGAAATAAATGTCTTCCTGTAACATAGTTGTATAGCATTTATACATACTGCCCTCATTGGATTTGGGAGAATATATTGATGGTGACCTCTTATTCATATGTAAACAAATACAGTAATAACATCAACAACAACCACCATGATGTACTGAATCCGTACTCTGTCCTTAGCACTATGTCAAACCTTGGATGCATGTTCTGACCTGAATATGCATAGGTGTCTTGGACAAGGGGTCTCCAACTTACAGAAGAGGAAAATAAGCTTCAATTTATGCAGGGTGACATAGGCAGAGGTAACACATGTCTGTCTGACTCTAAACTGTACATATTCAGCATATATTTACTGCACATCTTCTGTGTGACAGACATTTCTTAGGCACTGGGAGTACAGTAGGCTAGAAAAGCAAATAAAAATTCCTCCAAGCTTACATTCACATGTAAGCGTAAGTTGTTAACTACTAACCTATAGTGCACAGATTATTGTGCTTACTCTAGTCTATCCATTATAATTAAGACTTAGATAGAGATGGAAAAAAACAAACATACTCCTTTTTTTCCAGTATTACAATTTGGTTCCCAGAGAAAAATATCATCACTATCTCCCATCTGCAATGCACTGAAATTTAAATTAATTGTATATTTTGTCAGTAAAACAGTGCTTCTCTAGATATATGCATTTCAAAATATTTTAGAAAGGGAAAATATATTCTGAATGTTTGTCTTCATGTATAATATAAATTCAAATGAACGCCAATAAACATGTTTACACACAAAAATACTTCCAGACAAAAGATGATTTTGCTGTTTCTATGTATATGTAACAGAAGAACAGGCAGTCAGCTAGGACCCCACCTTGGGGGTGTGTTTCTAAAACACGTGAAAGCAGTCTATCCTGGCAGAAAGGATGAAAGCCCAAGACTCCTCCACACTAGGCATCCCTCACGGGCCCTGACTTCTTACTGCAGGACTTTAAAGAGGCCTCCAGGGCTCTGAACCACAGTCCTCAAGTCCTGCAGCCTTCCTTCCCTAAAGCTATTAAATGGCAGTCAGATTCTGCCTTTGGTGGCAGGTCACTACCGCACTGTGGCTGTAGAAAGCATTTATCTTAGACCTCTAAAATGAGGGCTTAAAAAACCCCTATGGAAGGCAGATTCTTTGTGGCTGTTTGATAAGGAAGGCATGTTGATTGACAGAACCCTTATGTCCAAAAGAGGCAGTGGCAGAAAACACTGCTCAGTGATTNNNN | pathogenic | 80,603 |
The genetic variant at chromosome 4, position 15574297, affecting gene CC2D2A (coiled-coil and C2 domain containing 2A): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome'] | GCCTAGAGAGGTTAAGTAACTTGCTCAAATCACAAAGTTTACAATAGAGGTGGGATTCAACTTGTACTGGCTTTCAATATACTATCATTGCTTATGCCTGGGAAATGAGGTTGGTAAAAGCAGAGAAAACTATTGAACTTTTTTGTTTCTATGTTTCAGTACATTTTGGAGAATGACTTTATTACTTCTGTCATTTAAAAAGTTTGACTCCAAAGTGCATGCTCTCAAGTGTACCCACATTTGGTAATGTCTAAAGACATTTTTGGCTCTCACAACTAATAAGAGTTGGTACTGCCACTGACATCTAGTGTGCAGATGCTAGGGATGCTGCTGAACATCCTACAATGCACAGGACAGACCTCCATAGCAAGCAATTATCTGGCCAAATATCTATAGTGCCTGTATTAGGGTTCTCTAAACGGACAGGACTAATAGGATAGATATATATATATGAAAGGAAGTTTATTAGGAGAAGTGACCACACGATCACAAGGTGAAGTCCCACAACAGGCCATCTGCAAGCTGAGGAGCAAGGAAGCCAATCCGAGTCCCAAAACCTCAAAAGTAGGGAAGCTGACAGTGCAGCCTTCAGTCTGGGCTGAAGGCCCTAGATCCCCTAGCAAACTACTGGTGTAAGTCCAAGAGTCCAAAAACTGAAGAACTTGGAGTCTAATGTTTGAGGGCAGGAAGCATCCAGCATGGGAGAAAGATGAAGGGGGGAAGACTCAGCCAGTCTAGTCCTTCCACATTCTTCTGCCTGCTCTTCTCCTAGCCATGCTGGCAGCTGATCAGATGGTGCCCACCCAGTCCACTGACTCAAATGTTAATCTCCCTTGGCAGCACACTCACAGACACACCCAGGAACAATACTTTGTATCCTTCAGTCCAATCGATACTTAACCACCATAGTGCCCAAGCTGAGAAACCCTGTCTTAAATCCTTATACTTCAAATCTTCAAAAATGGCACACATTCCTTCCTGTGTCATCTATTTTACAGAATAAACAAGCTCGGTTATTTCAGCTGTACTTTCCATGCCATAGTTTTTTGTTTTCGTTTTTGAGACAGAGTCTGGTTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTGTCCTGTGTCAGCCTCCCAAGTAGCTGGGACCACAGGCGTGTGCCACCACACCTGGCTAATTTTTGTATTTTTGGTAAAGATGGAGTTTCACCTTGTTGGCCAGGCTTGTCTCAAACTCCTGACCTCAAGTGCTCTACCTGCCTCGGCCTCCCAAAGTGCTGGGATATCTGGCGTGAGCCACTGTGCCTGGCCTGCCATCGTTTTTATACTCTTGTTTTCCTGTATCCTTAGATAACATTTGATCTAAGCTTTGGAATATAATTAAAATTCTGAAAAATGGAGATGGGAAGTTGGGCATTCTAGAAATGGGGAATGGCCAGTAGCCAATATTTATTGATTGCTTACCATATGCTGGACATTTTTCTTAGTGTTTTATATCTATTCATTCACTACTCATAACAACCCCACAAAGTAGATACTATTATTGTCTCTTTTTACTAATGAGGAAGCCTCAGATTCCTCATTTGTAAACCAAGTTTTGAACCCAAAACTGCGTTTAAACCAAGACTTGAACCTAAGCAAATTGTATATTCAGTACACCCTCTGCTAAACAATGAAAAGAAGGCAAGGAAGTACAGAGCCCTTTCTGGCGAGTGCTTAGAGAGATGAGATTAGAAAGATGGGATTGGCTTTGAATGCCAGTCTGAGCAATTTTGGTTCAATTTATTAAACAATGAGGAGTTGACACTTGCCTCTCAACTTCTGTTGGAAAAAGCATCAGGATGTTTACCAAGTCATATTTTCTTCACAGATTGATGGAACATTTAAAATAGATATTCCCCCAGTTCTTCTGGGCTACAGTAAGGAGCGAAATATGATTCTTGAGCGGGGTTTTGATTCTGTCCGAAGCTTAAGTGAAGGCTCCTACATTACCCTCTTTATTACCATTGAGCCCCAGCTGGTTCCTGGAGAGTCCATTCGAGAAAAGGTAACTACTTATAGTTTGGAAACCCATGTCTATGTTGATAAAACACAAGAAATGCTTGCTAGGCTATACTTTTATGAACTTTTTCCTACACAAACAGAGCCTTCCTTACTTCAATCTCCATTTATTATTCTTTCAGTTTAGATAGAATGGTGGTGAGAAAACAGATGTGTGGGTTTGTACTTTCACTGAACCAGTAATCGGGTCAATCAGCAATATGTTTATATTTATCTTGCTTTGCCTAAAACTTAAGACTTTTAGTCAAAGCAAGACAAATATAAACATGCTCTACTTCTAGAAGAATGTTCTCAATGTGAAGAAAATGAAATATCACAAACTAGAATATCAGATTGCTCTTTTATTTGACAAGTATTGGCAAGAATACATTTCCATGTCTGATCTTACATCCTTGGCTATGGTATGCATTGAATCAATTCATAGGATCATAAGACTAGATGACCTTCATGAGTCACCTCAATTCATTTCATGAAATAAATATATGTACAAGTATGCTTTTAAACAGCTCTAGAAAAGAGTTTCCAGAACTTTCACTGGTTAGCAACTGTCCCTGAACCTTCATTAAACCTATTTATGCCTAGTGTTCCATTACTGGAACGCTACGCATGTGGGAGTTATTTATATCCTACCTCTCAAGGTCATTTCCAAGGTCTGATTGCAAAAATTCAAAAAATTGCAACCTCAGGCATAAATGTGTTAAGAAATAAATGTCTTCCTGTAACATAGTTGTATAGCATTTATACATACTGCCCTCATTGGATTTGGGAGAATATATTGATGGTGACCTCTTATTCATATGTAAACAAATACAGTAATAACATCAACAACAACCACCATGATGTACTGAATCCGTACTCTGTCCTTAGCACTATGTCAAACCTTGGATGCATGTTCTGACCTGAATATGCATAGGTGTCTTGGACAAGGGGTCTCCAACTTACAGAAGAGGAAAATAAGCTTCAATTTATGCAGGGTGACATAGGCAGAGGTAACACATGTCTGTCTGACTCTAAACTGTACATATTCAGCATATATTTACTGCACATCTTCTGTGTGACAGACATTTCTTAGGCACTGGGAGTACAGTAGGCTAGAAAAGCAAATAAAAATTCCTCCAAGCTTACATTCACATGTAAGCGTAAGTTGTTAACTACTAACCTATAGTGCACAGATTATTGTGCTTACTCTAGTCTATCCATTATAATTAAGACTTAGATAGAGATGGAAAAAAACAAACATACTCCTTTTTTTCCAGTATTACAATTTGGTTCCCAGAGAAAAATATCATCACTATCTCCCATCTGCAATGCACTGAAATTTAAATTAATTGTATATTTTGTCAGTAAAACAGTGCTTCTCTAGATATATGCATTTCAAAATATTTTAGAAAGGGAAAATATATTCTGAATGTTTGTCTTCATGTATAATATAAATTCAAATGAACGCCAATAAACATGTTTACACACAAAAATACTTCCAGACAAAAGATGATTTTGCTGTTTCTATGTATATGTAACAGAAGAACAGGCAGTCAGCTAGGACCCCACCTTGGGGGTGTGTTTCTAAAACACGTGAAAGCAGTCTATCCTGGCAGAAAGGATGAAAGCCCAAGACTCCTCCACACTAGGCATCCCTCACGGGCCCTGACTTCTTACTGCAGGACTTTAAAGAGGCCTCCAGGGCTCTGAACCACAGTCCTCAAGTCCTGCAGCCTTCCTTCCCTAAAGCTATTAAATGGCAGTCAGATTCTGCCTTTGGTGGCAGGTCACTACCGCACTGTGGCTGTAGAAAGCATTTATCTTAGACCTCTAAAATGAGGGCTTAAAAAACCCCTATGGAAGGCAGATTCTTTGTGGCTGTTTGATAAGGAAGGCATGTTGATTGACAGAACCCTTATGTCCAAAAGAGGCAGTGGCAGAAAACACTGCTCAGTGATTCACTTGCAGACAATTCAGGAAAGAGAAGGTCTCATCCTAAAATTATAGGGTCAACAACCTGGAATT | GCCTAGAGAGGTTAAGTAACTTGCTCAAATCACAAAGTTTACAATAGAGGTGGGATTCAACTTGTACTGGCTTTCAATATACTATCATTGCTTATGCCTGGGAAATGAGGTTGGTAAAAGCAGAGAAAACTATTGAACTTTTTTGTTTCTATGTTTCAGTACATTTTGGAGAATGACTTTATTACTTCTGTCATTTAAAAAGTTTGACTCCAAAGTGCATGCTCTCAAGTGTACCCACATTTGGTAATGTCTAAAGACATTTTTGGCTCTCACAACTAATAAGAGTTGGTACTGCCACTGACATCTAGTGTGCAGATGCTAGGGATGCTGCTGAACATCCTACAATGCACAGGACAGACCTCCATAGCAAGCAATTATCTGGCCAAATATCTATAGTGCCTGTATTAGGGTTCTCTAAACGGACAGGACTAATAGGATAGATATATATATATGAAAGGAAGTTTATTAGGAGAAGTGACCACACGATCACAAGGTGAAGTCCCACAACAGGCCATCTGCAAGCTGAGGAGCAAGGAAGCCAATCCGAGTCCCAAAACCTCAAAAGTAGGGAAGCTGACAGTGCAGCCTTCAGTCTGGGCTGAAGGCCCTAGATCCCCTAGCAAACTACTGGTGTAAGTCCAAGAGTCCAAAAACTGAAGAACTTGGAGTCTAATGTTTGAGGGCAGGAAGCATCCAGCATGGGAGAAAGATGAAGGGGGGAAGACTCAGCCAGTCTAGTCCTTCCACATTCTTCTGCCTGCTCTTCTCCTAGCCATGCTGGCAGCTGATCAGATGGTGCCCACCCAGTCCACTGACTCAAATGTTAATCTCCCTTGGCAGCACACTCACAGACACACCCAGGAACAATACTTTGTATCCTTCAGTCCAATCGATACTTAACCACCATAGTGCCCAAGCTGAGAAACCCTGTCTTAAATCCTTATACTTCAAATCTTCAAAAATGGCACACATTCCTTCCTGTGTCATCTATTTTACAGAATAAACAAGCTCGGTTATTTCAGCTGTACTTTCCATGCCATAGTTTTTTGTTTTCGTTTTTGAGACAGAGTCTGGTTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTGTCCTGTGTCAGCCTCCCAAGTAGCTGGGACCACAGGCGTGTGCCACCACACCTGGCTAATTTTTGTATTTTTGGTAAAGATGGAGTTTCACCTTGTTGGCCAGGCTTGTCTCAAACTCCTGACCTCAAGTGCTCTACCTGCCTCGGCCTCCCAAAGTGCTGGGATATCTGGCGTGAGCCACTGTGCCTGGCCTGCCATCGTTTTTATACTCTTGTTTTCCTGTATCCTTAGATAACATTTGATCTAAGCTTTGGAATATAATTAAAATTCTGAAAAATGGAGATGGGAAGTTGGGCATTCTAGAAATGGGGAATGGCCAGTAGCCAATATTTATTGATTGCTTACCATATGCTGGACATTTTTCTTAGTGTTTTATATCTATTCATTCACTACTCATAACAACCCCACAAAGTAGATACTATTATTGTCTCTTTTTACTAATGAGGAAGCCTCAGATTCCTCATTTGTAAACCAAGTTTTGAACCCAAAACTGCGTTTAAACCAAGACTTGAACCTAAGCAAATTGTATATTCAGTACACCCTCTGCTAAACAATGAAAAGAAGGCAAGGAAGTACAGAGCCCTTTCTGGCGAGTGCTTAGAGAGATGAGATTAGAAAGATGGGATTGGCTTTGAATGCCAGTCTGAGCAATTTTGGTTCAATTTATTAAACAATGAGGAGTTGACACTTGCCTCTCAACTTCTGTTGGAAAAAGCATCAGGATGTTTACCAAGTCATATTTTCTTCACAGATTGATGGAACATTTAAAATAGATATTCCCCCAGTTCTTCTGGGCTACAGTAAGGAGCGAAATATGATTCTTGAGCGGGGTTTTGATTCTGTCCGAAGCTTAAGTGAAGGCTCCTACATTACCCTCTTTATTACCATTGAGCCCCAGCTGGTTGGTTCCTGGAGAGTCCATTCGAGAAAAGGTAACTACTTATAGTTTGGAAACCCATGTCTATGTTGATAAAACACAAGAAATGCTTGCTAGGCTATACTTTTATGAACTTTTTCCTACACAAACAGAGCCTTCCTTACTTCAATCTCCATTTATTATTCTTTCAGTTTAGATAGAATGGTGGTGAGAAAACAGATGTGTGGGTTTGTACTTTCACTGAACCAGTAATCGGGTCAATCAGCAATATGTTTATATTTATCTTGCTTTGCCTAAAACTTAAGACTTTTAGTCAAAGCAAGACAAATATAAACATGCTCTACTTCTAGAAGAATGTTCTCAATGTGAAGAAAATGAAATATCACAAACTAGAATATCAGATTGCTCTTTTATTTGACAAGTATTGGCAAGAATACATTTCCATGTCTGATCTTACATCCTTGGCTATGGTATGCATTGAATCAATTCATAGGATCATAAGACTAGATGACCTTCATGAGTCACCTCAATTCATTTCATGAAATAAATATATGTACAAGTATGCTTTTAAACAGCTCTAGAAAAGAGTTTCCAGAACTTTCACTGGTTAGCAACTGTCCCTGAACCTTCATTAAACCTATTTATGCCTAGTGTTCCATTACTGGAACGCTACGCATGTGGGAGTTATTTATATCCTACCTCTCAAGGTCATTTCCAAGGTCTGATTGCAAAAATTCAAAAAATTGCAACCTCAGGCATAAATGTGTTAAGAAATAAATGTCTTCCTGTAACATAGTTGTATAGCATTTATACATACTGCCCTCATTGGATTTGGGAGAATATATTGATGGTGACCTCTTATTCATATGTAAACAAATACAGTAATAACATCAACAACAACCACCATGATGTACTGAATCCGTACTCTGTCCTTAGCACTATGTCAAACCTTGGATGCATGTTCTGACCTGAATATGCATAGGTGTCTTGGACAAGGGGTCTCCAACTTACAGAAGAGGAAAATAAGCTTCAATTTATGCAGGGTGACATAGGCAGAGGTAACACATGTCTGTCTGACTCTAAACTGTACATATTCAGCATATATTTACTGCACATCTTCTGTGTGACAGACATTTCTTAGGCACTGGGAGTACAGTAGGCTAGAAAAGCAAATAAAAATTCCTCCAAGCTTACATTCACATGTAAGCGTAAGTTGTTAACTACTAACCTATAGTGCACAGATTATTGTGCTTACTCTAGTCTATCCATTATAATTAAGACTTAGATAGAGATGGAAAAAAACAAACATACTCCTTTTTTTCCAGTATTACAATTTGGTTCCCAGAGAAAAATATCATCACTATCTCCCATCTGCAATGCACTGAAATTTAAATTAATTGTATATTTTGTCAGTAAAACAGTGCTTCTCTAGATATATGCATTTCAAAATATTTTAGAAAGGGAAAATATATTCTGAATGTTTGTCTTCATGTATAATATAAATTCAAATGAACGCCAATAAACATGTTTACACACAAAAATACTTCCAGACAAAAGATGATTTTGCTGTTTCTATGTATATGTAACAGAAGAACAGGCAGTCAGCTAGGACCCCACCTTGGGGGTGTGTTTCTAAAACACGTGAAAGCAGTCTATCCTGGCAGAAAGGATGAAAGCCCAAGACTCCTCCACACTAGGCATCCCTCACGGGCCCTGACTTCTTACTGCAGGACTTTAAAGAGGCCTCCAGGGCTCTGAACCACAGTCCTCAAGTCCTGCAGCCTTCCTTCCCTAAAGCTATTAAATGGCAGTCAGATTCTGCCTTTGGTGGCAGGTCACTACCGCACTGTGGCTGTAGAAAGCATTTATCTTAGACCTCTAAAATGAGGGCTTAAAAAACCCCTATGGAAGGCAGATTCTTTGTGGCTGTTTGATAAGGAAGGCATGTTGATTGACAGAACCCTTATGTCCAAAAGAGGCAGTGGCAGAAAACACTGCTCAGTGATTCACTTGCAGACAATTCAGGAAAGAGAAGGTCTCATCCTAAAATTATAGGGTCAACAACCTGG | pathogenic | 80,605 |
Chromosome 4, position 15579967, gene CC2D2A (coiled-coil and C2 domain containing 2A): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['CC2D2A-related_disorder', 'COACH_syndrome_1', 'COACH_syndrome_2', 'Ciliopathy', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | ATTTTTCAGACTCCCAACATTTTTCAAAACTTGGATGAATGAGTAAATGAAATAGTTTAGAGGAACACAGATGAATTCAACTGTGTCCTTTTTTGCACATCATTCTTGTTTTATAATTCTCCATTTTTCCACAATTACAATTACTCCTGGACTGACCATTCTACATTAGAAATCTGTGATACACCTACACCAAAGCTGTATGAGCTTACCTCTTTCACTTAGTTACATATTCATCGTAACTTTTATTAGGTAGCTACTGTCTTGGCACTATGCTCAGCAGCAGGCAGTTATGACTGTGATGATGTTAAGATTTAGATGTCAAGGGACATTTTATGAGAATATATAGGAGGCTTCTGGAGATATCTCCATCCTAAATAACCCCTACAACCACTACTCCAACTTCTTAGGGTATAGTAATCAAATCTGGAATAGAAGCCACAGTTCAGCCCCAATATAAGGGGCAGACAAGAACAATTGGGATAATCTAGATTCTATTTGAGGTCATAAAAAGTAATGAAATGTTTTCCATTGCCTCATTCATTCACTCATTTGTTAAATACTTACTATGTGCCAAGTAGTATTCTCCACACTGGAGATAAAAAAACAAAATCCCTGAAGTCAGGAATCTTACTTTGTGGGAAAGACTGAGAAAACAAATATATCACAATGTCAAAAACATTTTCAAGCACTGCCTCTAAATTCTGTTTTAAAATTATTATTCTTTTTTAACAGAGTCTCACTCTGTTGCCCAGGTTGGAGTGCAGTGGCTCAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGAGCCCCCTACCTTAGCCTCCCAAGTAGCTGGGACTACAAGCACGCATCACTACACCTGGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTTAATAGAGACAGGGTCCCATTATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAGGTGATCCTCTTGTCTCAGCCTCTCAAAGTGCTGGGATTGCAGGTGTGAGACACTGTGCCCAGCCCCCAAAATTAATTTTTAAAATAAAATTTTCAATTTGTTCTGAAATCCTTTAAAATGTAACCAACTATGAAAATATTTTTATACAAAAAAAATTTAAAAATATTTAAAGACCCACTCTTTTTCATGTTATTTTTGTTAGTAGCAGCTTTAGTGGGGGAAATGACAATATGTGTGTAAAGGAAATCTACATTTGTTCTGTTTCATCTGCTTTGAGTTACTTTTTAAAAGTCTGGGAATTGGTGGCTGGATGTAGTGGCTCACGCCTGTAATCCCATTGCTTTAGGAGGCCAAAGTGGGAGAATCACTTGAGCCCAGGAGTTTGAGGGTACAGTAAGCTGTGTTTGTGCCACTGCACTTCAGCCTAGGTGACAGAATAAGACCCTGTCTCAAAAAAAAAAAAGTCTGGGAATTGTTTGCTCATCTTGGCTCAGAGAACCAAGATGAGCAACCAGTTATTTAAAATAATTCTTATACATTTGATGTTTCTAGTTCTGCCTCTTTTTTCCTTTGAGATCCATTACTATTAGTTATTTCACTGCTTATGGACTTGAAACATTTTAACACATTGATATAGATCCATAAATTTGCTGCCCATTTAACATGAGTTGCTTAAGATTTACATATGAGATGTTAGATTTTCTGGGGCCGCCCCCCAGCCTGCACACTTAAAACCACCATCAAAATACACACAAAACTCTACTGCCTAATTCTAGCCTCATCAATCAGAATTAGTACATCACAGTTTAATTTTCATAGATTATTAATGTAGTAGTTTCCATATGGCTGCTTACCTGCTACTTTATTTCAATCCTGTCAAATATATTTTAAGTATTTAATGAGTCGGTCTAATTTTCAAACTACAAATTTAATTTAAATAAAGCTGCAGGGACACCAGGACATGACAGCTTTGTAAGGAGTCAGTCATATTCCCAAACCATACATTTCCTGCATGTTGACTGTGGAATCTGAACACGTACTTTCTCTCTTGTAATCATACATAAACTCCATGAAGTCTTTCTTTTTGAAGTTTGAGTCTCAGGAAGATGAGAAATTACTTCAAGCAACTGAGAAGTTTCAAGCTGAATGTGCCTTAAAGTTTCCAAATCGTCAGTGCCTTACAACAGTAATTGATATAAGCGGAAAAACTGTTTTTATCACACGTTATCTCAAACCTTTAAACCCTCCTCAGGAGCTCCTTAATGTCTACCCCAATAATCTACAGGCAACTGCAGTAAGTATTTCATAGTCAATAAGTGCTGTGCTAAAACTGTTTTCACATTTCAATATATTGCCATTTTAATTACCATATTTCATAGTGCTTAAGATGTTAACTATATCGAGATCATTAATGACAAAAGTAATGATTAAAACATTTTTATTAACATGAGGTTTTCTTCCTTTAGAAAAGTCTGAAGGCAGCCAGGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATGACTTGAGGCCAGGAGTTTGACACTAGCCTGGCCAACATGGCGAAACCCCATCTCTACTGGAAATACAAAAATTAGCCTGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCCTAAGAATAGCTTGAACCTGGGAGGCAGAGGTTTCAGTGAGCCAAAATTGTGTCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGTCTAAAGGTACCAGGGATGACAGTTTCCATATGTTGGAAAATTAACATATGGAAAATGCTTTACACTTCCAAAATGTATTACATAAACATGTTTTCATTATGTATTCTCAATCACTTTGTTAGGATTTGAACTGATGCCTCTGACTTCAGAAGTTATACACATTCAACTGTACTAAGATAACTATCCAGTATTACGCCTAATGCTATATGCATCACTGAGTTCAAATTAAGCAAAATTTATTTCAAATATTTAAGTATTTTCAGCATTTAGACCATCATTCCAAAGTACTTCCACACTGGGCCATTAAATATGCATGCACCATTCTCTGGCTTCAGAGCACCATACCCATCACAAACTTGTGTGAATCAGAAGGCATATGTTAACCAGGCTAATTTTATGTGGATACCATAACCCATAACTGCCTTTGGAGAGTGGATAATATAGGAAGTTATTGCTACTAATAGTCACTAATATACTAATTTAGAAACAAGGTAATGATATATCTTTTTGTAGATATAGATGTATCAAAAAAAACCCCACTTTGTGTTCTACATTTCATTTGCTTTTTATATTACACAATTTTTATAGAAAACAATAATAGGGACTTCTATTCTACCTAGCATAGTAGATGTACAGAAAATTTCTCCCAGTAGAGAACACTTAAGAGTGATGAATAAAATATCTAATAAGTCATGGCTGAAATGAAAGTAAAGTGATAGGGAAAATATAAGAGACAAGAAATAAGAAAGGAAGATTCTACAATGATGAAAGCTTGAAATAGTGTTTGCTCTCAGGTCATCTGATAATTCCTAATGACTATAGCTGGGTTTCAATGACCACAAGGCTGTGGGACACAGGGATAATGCATGGGGCTACAGCAGCCTGGAAGACTGAATTAGAGACTCAAATGCAGAGTTGGGACTCTTCAGGATAATACCATCAATGGATAAACTAGGAAATGCCCTGTCTAAAGAAGGAACACTGCCTGTCTCAGTCTTGACTTTGGATGGAAGAGAAAAAAAGAAAACTTTCTAACACCTACTCTGTATTTACTCACATTTGAGACTGGAATTTATACTACCTGTATAACCCAAAAAAACTTCAACTGAAAATCTAGTTGAAAGTATTTCCTGTTGGTAATGCCCCTAGATCCCTGTTGAAAGCAAACATAAATACCACAAATATTCCTAGAAGAATGCCCTTCTAACTCAGCCTCAAAAAAATTCCACAGAAAAAAATTCCAAGAAACATGAACATACAATGAAAGATCATCAATGAAGAAGTAAATCACCATAAAGAAGGTAAGAGTTCATTCACAAAAACAACAAACTGAAGAATCAGGCCATAGTAACT | ATTTTTCAGACTCCCAACATTTTTCAAAACTTGGATGAATGAGTAAATGAAATAGTTTAGAGGAACACAGATGAATTCAACTGTGTCCTTTTTTGCACATCATTCTTGTTTTATAATTCTCCATTTTTCCACAATTACAATTACTCCTGGACTGACCATTCTACATTAGAAATCTGTGATACACCTACACCAAAGCTGTATGAGCTTACCTCTTTCACTTAGTTACATATTCATCGTAACTTTTATTAGGTAGCTACTGTCTTGGCACTATGCTCAGCAGCAGGCAGTTATGACTGTGATGATGTTAAGATTTAGATGTCAAGGGACATTTTATGAGAATATATAGGAGGCTTCTGGAGATATCTCCATCCTAAATAACCCCTACAACCACTACTCCAACTTCTTAGGGTATAGTAATCAAATCTGGAATAGAAGCCACAGTTCAGCCCCAATATAAGGGGCAGACAAGAACAATTGGGATAATCTAGATTCTATTTGAGGTCATAAAAAGTAATGAAATGTTTTCCATTGCCTCATTCATTCACTCATTTGTTAAATACTTACTATGTGCCAAGTAGTATTCTCCACACTGGAGATAAAAAAACAAAATCCCTGAAGTCAGGAATCTTACTTTGTGGGAAAGACTGAGAAAACAAATATATCACAATGTCAAAAACATTTTCAAGCACTGCCTCTAAATTCTGTTTTAAAATTATTATTCTTTTTTAACAGAGTCTCACTCTGTTGCCCAGGTTGGAGTGCAGTGGCTCAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGAGCCCCCTACCTTAGCCTCCCAAGTAGCTGGGACTACAAGCACGCATCACTACACCTGGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTTAATAGAGACAGGGTCCCATTATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAGGTGATCCTCTTGTCTCAGCCTCTCAAAGTGCTGGGATTGCAGGTGTGAGACACTGTGCCCAGCCCCCAAAATTAATTTTTAAAATAAAATTTTCAATTTGTTCTGAAATCCTTTAAAATGTAACCAACTATGAAAATATTTTTATACAAAAAAAATTTAAAAATATTTAAAGACCCACTCTTTTTCATGTTATTTTTGTTAGTAGCAGCTTTAGTGGGGGAAATGACAATATGTGTGTAAAGGAAATCTACATTTGTTCTGTTTCATCTGCTTTGAGTTACTTTTTAAAAGTCTGGGAATTGGTGGCTGGATGTAGTGGCTCACGCCTGTAATCCCATTGCTTTAGGAGGCCAAAGTGGGAGAATCACTTGAGCCCAGGAGTTTGAGGGTACAGTAAGCTGTGTTTGTGCCACTGCACTTCAGCCTAGGTGACAGAATAAGACCCTGTCTCAAAAAAAAAAAAGTCTGGGAATTGTTTGCTCATCTTGGCTCAGAGAACCAAGATGAGCAACCAGTTATTTAAAATAATTCTTATACATTTGATGTTTCTAGTTCTGCCTCTTTTTTCCTTTGAGATCCATTACTATTAGTTATTTCACTGCTTATGGACTTGAAACATTTTAACACATTGATATAGATCCATAAATTTGCTGCCCATTTAACATGAGTTGCTTAAGATTTACATATGAGATGTTAGATTTTCTGGGGCCGCCCCCCAGCCTGCACACTTAAAACCACCATCAAAATACACACAAAACTCTACTGCCTAATTCTAGCCTCATCAATCAGAATTAGTACATCACAGTTTAATTTTCATAGATTATTAATGTAGTAGTTTCCATATGGCTGCTTACCTGCTACTTTATTTCAATCCTGTCAAATATATTTTAAGTATTTAATGAGTCGGTCTAATTTTCAAACTACAAATTTAATTTAAATAAAGCTGCAGGGACACCAGGACATGACAGCTTTGTAAGGAGTCAGTCATATTCCCAAACCATACATTTCCTGCATGTTGACTGTGGAATCTGAACACGTACTTTCTCTCTTGTAATCATACATAAACTCCATGAAGTCTTTCTTTTTGAAGTTTTGAGTCTCAGGAAGATGAGAAATTACTTCAAGCAACTGAGAAGTTTCAAGCTGAATGTGCCTTAAAGTTTCCAAATCGTCAGTGCCTTACAACAGTAATTGATATAAGCGGAAAAACTGTTTTTATCACACGTTATCTCAAACCTTTAAACCCTCCTCAGGAGCTCCTTAATGTCTACCCCAATAATCTACAGGCAACTGCAGTAAGTATTTCATAGTCAATAAGTGCTGTGCTAAAACTGTTTTCACATTTCAATATATTGCCATTTTAATTACCATATTTCATAGTGCTTAAGATGTTAACTATATCGAGATCATTAATGACAAAAGTAATGATTAAAACATTTTTATTAACATGAGGTTTTCTTCCTTTAGAAAAGTCTGAAGGCAGCCAGGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATGACTTGAGGCCAGGAGTTTGACACTAGCCTGGCCAACATGGCGAAACCCCATCTCTACTGGAAATACAAAAATTAGCCTGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCCTAAGAATAGCTTGAACCTGGGAGGCAGAGGTTTCAGTGAGCCAAAATTGTGTCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGTCTAAAGGTACCAGGGATGACAGTTTCCATATGTTGGAAAATTAACATATGGAAAATGCTTTACACTTCCAAAATGTATTACATAAACATGTTTTCATTATGTATTCTCAATCACTTTGTTAGGATTTGAACTGATGCCTCTGACTTCAGAAGTTATACACATTCAACTGTACTAAGATAACTATCCAGTATTACGCCTAATGCTATATGCATCACTGAGTTCAAATTAAGCAAAATTTATTTCAAATATTTAAGTATTTTCAGCATTTAGACCATCATTCCAAAGTACTTCCACACTGGGCCATTAAATATGCATGCACCATTCTCTGGCTTCAGAGCACCATACCCATCACAAACTTGTGTGAATCAGAAGGCATATGTTAACCAGGCTAATTTTATGTGGATACCATAACCCATAACTGCCTTTGGAGAGTGGATAATATAGGAAGTTATTGCTACTAATAGTCACTAATATACTAATTTAGAAACAAGGTAATGATATATCTTTTTGTAGATATAGATGTATCAAAAAAAACCCCACTTTGTGTTCTACATTTCATTTGCTTTTTATATTACACAATTTTTATAGAAAACAATAATAGGGACTTCTATTCTACCTAGCATAGTAGATGTACAGAAAATTTCTCCCAGTAGAGAACACTTAAGAGTGATGAATAAAATATCTAATAAGTCATGGCTGAAATGAAAGTAAAGTGATAGGGAAAATATAAGAGACAAGAAATAAGAAAGGAAGATTCTACAATGATGAAAGCTTGAAATAGTGTTTGCTCTCAGGTCATCTGATAATTCCTAATGACTATAGCTGGGTTTCAATGACCACAAGGCTGTGGGACACAGGGATAATGCATGGGGCTACAGCAGCCTGGAAGACTGAATTAGAGACTCAAATGCAGAGTTGGGACTCTTCAGGATAATACCATCAATGGATAAACTAGGAAATGCCCTGTCTAAAGAAGGAACACTGCCTGTCTCAGTCTTGACTTTGGATGGAAGAGAAAAAAAGAAAACTTTCTAACACCTACTCTGTATTTACTCACATTTGAGACTGGAATTTATACTACCTGTATAACCCAAAAAAACTTCAACTGAAAATCTAGTTGAAAGTATTTCCTGTTGGTAATGCCCCTAGATCCCTGTTGAAAGCAAACATAAATACCACAAATATTCCTAGAAGAATGCCCTTCTAACTCAGCCTCAAAAAAATTCCACAGAAAAAAATTCCAAGAAACATGAACATACAATGAAAGATCATCAATGAAGAAGTAAATCACCATAAAGAAGGTAAGAGTTCATTCACAAAAACAACAAACTGAAGAATCAGGCCATAGTAAC | pathogenic | 80,608 |
Clinical significance of chromosome 4, position 15580086, gene CC2D2A (coiled-coil and C2 domain containing 2A): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome'] | TCCATTTTTCCACAATTACAATTACTCCTGGACTGACCATTCTACATTAGAAATCTGTGATACACCTACACCAAAGCTGTATGAGCTTACCTCTTTCACTTAGTTACATATTCATCGTAACTTTTATTAGGTAGCTACTGTCTTGGCACTATGCTCAGCAGCAGGCAGTTATGACTGTGATGATGTTAAGATTTAGATGTCAAGGGACATTTTATGAGAATATATAGGAGGCTTCTGGAGATATCTCCATCCTAAATAACCCCTACAACCACTACTCCAACTTCTTAGGGTATAGTAATCAAATCTGGAATAGAAGCCACAGTTCAGCCCCAATATAAGGGGCAGACAAGAACAATTGGGATAATCTAGATTCTATTTGAGGTCATAAAAAGTAATGAAATGTTTTCCATTGCCTCATTCATTCACTCATTTGTTAAATACTTACTATGTGCCAAGTAGTATTCTCCACACTGGAGATAAAAAAACAAAATCCCTGAAGTCAGGAATCTTACTTTGTGGGAAAGACTGAGAAAACAAATATATCACAATGTCAAAAACATTTTCAAGCACTGCCTCTAAATTCTGTTTTAAAATTATTATTCTTTTTTAACAGAGTCTCACTCTGTTGCCCAGGTTGGAGTGCAGTGGCTCAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGAGCCCCCTACCTTAGCCTCCCAAGTAGCTGGGACTACAAGCACGCATCACTACACCTGGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTTAATAGAGACAGGGTCCCATTATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAGGTGATCCTCTTGTCTCAGCCTCTCAAAGTGCTGGGATTGCAGGTGTGAGACACTGTGCCCAGCCCCCAAAATTAATTTTTAAAATAAAATTTTCAATTTGTTCTGAAATCCTTTAAAATGTAACCAACTATGAAAATATTTTTATACAAAAAAAATTTAAAAATATTTAAAGACCCACTCTTTTTCATGTTATTTTTGTTAGTAGCAGCTTTAGTGGGGGAAATGACAATATGTGTGTAAAGGAAATCTACATTTGTTCTGTTTCATCTGCTTTGAGTTACTTTTTAAAAGTCTGGGAATTGGTGGCTGGATGTAGTGGCTCACGCCTGTAATCCCATTGCTTTAGGAGGCCAAAGTGGGAGAATCACTTGAGCCCAGGAGTTTGAGGGTACAGTAAGCTGTGTTTGTGCCACTGCACTTCAGCCTAGGTGACAGAATAAGACCCTGTCTCAAAAAAAAAAAAGTCTGGGAATTGTTTGCTCATCTTGGCTCAGAGAACCAAGATGAGCAACCAGTTATTTAAAATAATTCTTATACATTTGATGTTTCTAGTTCTGCCTCTTTTTTCCTTTGAGATCCATTACTATTAGTTATTTCACTGCTTATGGACTTGAAACATTTTAACACATTGATATAGATCCATAAATTTGCTGCCCATTTAACATGAGTTGCTTAAGATTTACATATGAGATGTTAGATTTTCTGGGGCCGCCCCCCAGCCTGCACACTTAAAACCACCATCAAAATACACACAAAACTCTACTGCCTAATTCTAGCCTCATCAATCAGAATTAGTACATCACAGTTTAATTTTCATAGATTATTAATGTAGTAGTTTCCATATGGCTGCTTACCTGCTACTTTATTTCAATCCTGTCAAATATATTTTAAGTATTTAATGAGTCGGTCTAATTTTCAAACTACAAATTTAATTTAAATAAAGCTGCAGGGACACCAGGACATGACAGCTTTGTAAGGAGTCAGTCATATTCCCAAACCATACATTTCCTGCATGTTGACTGTGGAATCTGAACACGTACTTTCTCTCTTGTAATCATACATAAACTCCATGAAGTCTTTCTTTTTGAAGTTTGAGTCTCAGGAAGATGAGAAATTACTTCAAGCAACTGAGAAGTTTCAAGCTGAATGTGCCTTAAAGTTTCCAAATCGTCAGTGCCTTACAACAGTAATTGATATAAGCGGAAAAACTGTTTTTATCACACGTTATCTCAAACCTTTAAACCCTCCTCAGGAGCTCCTTAATGTCTACCCCAATAATCTACAGGCAACTGCAGTAAGTATTTCATAGTCAATAAGTGCTGTGCTAAAACTGTTTTCACATTTCAATATATTGCCATTTTAATTACCATATTTCATAGTGCTTAAGATGTTAACTATATCGAGATCATTAATGACAAAAGTAATGATTAAAACATTTTTATTAACATGAGGTTTTCTTCCTTTAGAAAAGTCTGAAGGCAGCCAGGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATGACTTGAGGCCAGGAGTTTGACACTAGCCTGGCCAACATGGCGAAACCCCATCTCTACTGGAAATACAAAAATTAGCCTGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCCTAAGAATAGCTTGAACCTGGGAGGCAGAGGTTTCAGTGAGCCAAAATTGTGTCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGTCTAAAGGTACCAGGGATGACAGTTTCCATATGTTGGAAAATTAACATATGGAAAATGCTTTACACTTCCAAAATGTATTACATAAACATGTTTTCATTATGTATTCTCAATCACTTTGTTAGGATTTGAACTGATGCCTCTGACTTCAGAAGTTATACACATTCAACTGTACTAAGATAACTATCCAGTATTACGCCTAATGCTATATGCATCACTGAGTTCAAATTAAGCAAAATTTATTTCAAATATTTAAGTATTTTCAGCATTTAGACCATCATTCCAAAGTACTTCCACACTGGGCCATTAAATATGCATGCACCATTCTCTGGCTTCAGAGCACCATACCCATCACAAACTTGTGTGAATCAGAAGGCATATGTTAACCAGGCTAATTTTATGTGGATACCATAACCCATAACTGCCTTTGGAGAGTGGATAATATAGGAAGTTATTGCTACTAATAGTCACTAATATACTAATTTAGAAACAAGGTAATGATATATCTTTTTGTAGATATAGATGTATCAAAAAAAACCCCACTTTGTGTTCTACATTTCATTTGCTTTTTATATTACACAATTTTTATAGAAAACAATAATAGGGACTTCTATTCTACCTAGCATAGTAGATGTACAGAAAATTTCTCCCAGTAGAGAACACTTAAGAGTGATGAATAAAATATCTAATAAGTCATGGCTGAAATGAAAGTAAAGTGATAGGGAAAATATAAGAGACAAGAAATAAGAAAGGAAGATTCTACAATGATGAAAGCTTGAAATAGTGTTTGCTCTCAGGTCATCTGATAATTCCTAATGACTATAGCTGGGTTTCAATGACCACAAGGCTGTGGGACACAGGGATAATGCATGGGGCTACAGCAGCCTGGAAGACTGAATTAGAGACTCAAATGCAGAGTTGGGACTCTTCAGGATAATACCATCAATGGATAAACTAGGAAATGCCCTGTCTAAAGAAGGAACACTGCCTGTCTCAGTCTTGACTTTGGATGGAAGAGAAAAAAAGAAAACTTTCTAACACCTACTCTGTATTTACTCACATTTGAGACTGGAATTTATACTACCTGTATAACCCAAAAAAACTTCAACTGAAAATCTAGTTGAAAGTATTTCCTGTTGGTAATGCCCCTAGATCCCTGTTGAAAGCAAACATAAATACCACAAATATTCCTAGAAGAATGCCCTTCTAACTCAGCCTCAAAAAAATTCCACAGAAAAAAATTCCAAGAAACATGAACATACAATGAAAGATCATCAATGAAGAAGTAAATCACCATAAAGAAGGTAAGAGTTCATTCACAAAAACAACAAACTGAAGAATCAGGCCATAGTAACTCCAGACAGGAGAATTATTGGATGTAAAATATAACATAGACATGTTTAATATATTTAAGAAATTTGGGGAATTTAAAGTATAATTAAAAAACAATAGAGCATTGGAATTGACAGGCAGAT | TCCATTTTTCCACAATTACAATTACTCCTGGACTGACCATTCTACATTAGAAATCTGTGATACACCTACACCAAAGCTGTATGAGCTTACCTCTTTCACTTAGTTACATATTCATCGTAACTTTTATTAGGTAGCTACTGTCTTGGCACTATGCTCAGCAGCAGGCAGTTATGACTGTGATGATGTTAAGATTTAGATGTCAAGGGACATTTTATGAGAATATATAGGAGGCTTCTGGAGATATCTCCATCCTAAATAACCCCTACAACCACTACTCCAACTTCTTAGGGTATAGTAATCAAATCTGGAATAGAAGCCACAGTTCAGCCCCAATATAAGGGGCAGACAAGAACAATTGGGATAATCTAGATTCTATTTGAGGTCATAAAAAGTAATGAAATGTTTTCCATTGCCTCATTCATTCACTCATTTGTTAAATACTTACTATGTGCCAAGTAGTATTCTCCACACTGGAGATAAAAAAACAAAATCCCTGAAGTCAGGAATCTTACTTTGTGGGAAAGACTGAGAAAACAAATATATCACAATGTCAAAAACATTTTCAAGCACTGCCTCTAAATTCTGTTTTAAAATTATTATTCTTTTTTAACAGAGTCTCACTCTGTTGCCCAGGTTGGAGTGCAGTGGCTCAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGAGCCCCCTACCTTAGCCTCCCAAGTAGCTGGGACTACAAGCACGCATCACTACACCTGGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTTAATAGAGACAGGGTCCCATTATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAGGTGATCCTCTTGTCTCAGCCTCTCAAAGTGCTGGGATTGCAGGTGTGAGACACTGTGCCCAGCCCCCAAAATTAATTTTTAAAATAAAATTTTCAATTTGTTCTGAAATCCTTTAAAATGTAACCAACTATGAAAATATTTTTATACAAAAAAAATTTAAAAATATTTAAAGACCCACTCTTTTTCATGTTATTTTTGTTAGTAGCAGCTTTAGTGGGGGAAATGACAATATGTGTGTAAAGGAAATCTACATTTGTTCTGTTTCATCTGCTTTGAGTTACTTTTTAAAAGTCTGGGAATTGGTGGCTGGATGTAGTGGCTCACGCCTGTAATCCCATTGCTTTAGGAGGCCAAAGTGGGAGAATCACTTGAGCCCAGGAGTTTGAGGGTACAGTAAGCTGTGTTTGTGCCACTGCACTTCAGCCTAGGTGACAGAATAAGACCCTGTCTCAAAAAAAAAAAAGTCTGGGAATTGTTTGCTCATCTTGGCTCAGAGAACCAAGATGAGCAACCAGTTATTTAAAATAATTCTTATACATTTGATGTTTCTAGTTCTGCCTCTTTTTTCCTTTGAGATCCATTACTATTAGTTATTTCACTGCTTATGGACTTGAAACATTTTAACACATTGATATAGATCCATAAATTTGCTGCCCATTTAACATGAGTTGCTTAAGATTTACATATGAGATGTTAGATTTTCTGGGGCCGCCCCCCAGCCTGCACACTTAAAACCACCATCAAAATACACACAAAACTCTACTGCCTAATTCTAGCCTCATCAATCAGAATTAGTACATCACAGTTTAATTTTCATAGATTATTAATGTAGTAGTTTCCATATGGCTGCTTACCTGCTACTTTATTTCAATCCTGTCAAATATATTTTAAGTATTTAATGAGTCGGTCTAATTTTCAAACTACAAATTTAATTTAAATAAAGCTGCAGGGACACCAGGACATGACAGCTTTGTAAGGAGTCAGTCATATTCCCAAACCATACATTTCCTGCATGTTGACTGTGGAATCTGAACACGTACTTTCTCTCTTGTAATCATACATAAACTCCATGAAGTCTTTCTTTTTGAAGTTTGAGTCTCAGGAAGATGAGAAATTACTTCAAGCAACTGAGAAGTTTCAAGCTGAATGTGCCTTAAAGTTTCCAAATCGTCAGTGCCTTACAACAGTAATTGATATAAGCGGAAAAACTTTTTATCACACGTTATCTCAAACCTTTAAACCCTCCTCAGGAGCTCCTTAATGTCTACCCCAATAATCTACAGGCAACTGCAGTAAGTATTTCATAGTCAATAAGTGCTGTGCTAAAACTGTTTTCACATTTCAATATATTGCCATTTTAATTACCATATTTCATAGTGCTTAAGATGTTAACTATATCGAGATCATTAATGACAAAAGTAATGATTAAAACATTTTTATTAACATGAGGTTTTCTTCCTTTAGAAAAGTCTGAAGGCAGCCAGGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATGACTTGAGGCCAGGAGTTTGACACTAGCCTGGCCAACATGGCGAAACCCCATCTCTACTGGAAATACAAAAATTAGCCTGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCCTAAGAATAGCTTGAACCTGGGAGGCAGAGGTTTCAGTGAGCCAAAATTGTGTCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGTCTAAAGGTACCAGGGATGACAGTTTCCATATGTTGGAAAATTAACATATGGAAAATGCTTTACACTTCCAAAATGTATTACATAAACATGTTTTCATTATGTATTCTCAATCACTTTGTTAGGATTTGAACTGATGCCTCTGACTTCAGAAGTTATACACATTCAACTGTACTAAGATAACTATCCAGTATTACGCCTAATGCTATATGCATCACTGAGTTCAAATTAAGCAAAATTTATTTCAAATATTTAAGTATTTTCAGCATTTAGACCATCATTCCAAAGTACTTCCACACTGGGCCATTAAATATGCATGCACCATTCTCTGGCTTCAGAGCACCATACCCATCACAAACTTGTGTGAATCAGAAGGCATATGTTAACCAGGCTAATTTTATGTGGATACCATAACCCATAACTGCCTTTGGAGAGTGGATAATATAGGAAGTTATTGCTACTAATAGTCACTAATATACTAATTTAGAAACAAGGTAATGATATATCTTTTTGTAGATATAGATGTATCAAAAAAAACCCCACTTTGTGTTCTACATTTCATTTGCTTTTTATATTACACAATTTTTATAGAAAACAATAATAGGGACTTCTATTCTACCTAGCATAGTAGATGTACAGAAAATTTCTCCCAGTAGAGAACACTTAAGAGTGATGAATAAAATATCTAATAAGTCATGGCTGAAATGAAAGTAAAGTGATAGGGAAAATATAAGAGACAAGAAATAAGAAAGGAAGATTCTACAATGATGAAAGCTTGAAATAGTGTTTGCTCTCAGGTCATCTGATAATTCCTAATGACTATAGCTGGGTTTCAATGACCACAAGGCTGTGGGACACAGGGATAATGCATGGGGCTACAGCAGCCTGGAAGACTGAATTAGAGACTCAAATGCAGAGTTGGGACTCTTCAGGATAATACCATCAATGGATAAACTAGGAAATGCCCTGTCTAAAGAAGGAACACTGCCTGTCTCAGTCTTGACTTTGGATGGAAGAGAAAAAAAGAAAACTTTCTAACACCTACTCTGTATTTACTCACATTTGAGACTGGAATTTATACTACCTGTATAACCCAAAAAAACTTCAACTGAAAATCTAGTTGAAAGTATTTCCTGTTGGTAATGCCCCTAGATCCCTGTTGAAAGCAAACATAAATACCACAAATATTCCTAGAAGAATGCCCTTCTAACTCAGCCTCAAAAAAATTCCACAGAAAAAAATTCCAAGAAACATGAACATACAATGAAAGATCATCAATGAAGAAGTAAATCACCATAAAGAAGGTAAGAGTTCATTCACAAAAACAACAAACTGAAGAATCAGGCCATAGTAACTCCAGACAGGAGAATTATTGGATGTAAAATATAACATAGACATGTTTAATATATTTAAGAAATTTGGGGAATTTAAAGTATAATTAAAAAACAATAGAGCATTGGAATTGACAGGCAGATNN | pathogenic | 80,610 |
Mutation at chromosome 4, position 15580170, within CC2D2A (coiled-coil and C2 domain containing 2A): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6'] | GCTTACCTCTTTCACTTAGTTACATATTCATCGTAACTTTTATTAGGTAGCTACTGTCTTGGCACTATGCTCAGCAGCAGGCAGTTATGACTGTGATGATGTTAAGATTTAGATGTCAAGGGACATTTTATGAGAATATATAGGAGGCTTCTGGAGATATCTCCATCCTAAATAACCCCTACAACCACTACTCCAACTTCTTAGGGTATAGTAATCAAATCTGGAATAGAAGCCACAGTTCAGCCCCAATATAAGGGGCAGACAAGAACAATTGGGATAATCTAGATTCTATTTGAGGTCATAAAAAGTAATGAAATGTTTTCCATTGCCTCATTCATTCACTCATTTGTTAAATACTTACTATGTGCCAAGTAGTATTCTCCACACTGGAGATAAAAAAACAAAATCCCTGAAGTCAGGAATCTTACTTTGTGGGAAAGACTGAGAAAACAAATATATCACAATGTCAAAAACATTTTCAAGCACTGCCTCTAAATTCTGTTTTAAAATTATTATTCTTTTTTAACAGAGTCTCACTCTGTTGCCCAGGTTGGAGTGCAGTGGCTCAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGAGCCCCCTACCTTAGCCTCCCAAGTAGCTGGGACTACAAGCACGCATCACTACACCTGGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTTAATAGAGACAGGGTCCCATTATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAGGTGATCCTCTTGTCTCAGCCTCTCAAAGTGCTGGGATTGCAGGTGTGAGACACTGTGCCCAGCCCCCAAAATTAATTTTTAAAATAAAATTTTCAATTTGTTCTGAAATCCTTTAAAATGTAACCAACTATGAAAATATTTTTATACAAAAAAAATTTAAAAATATTTAAAGACCCACTCTTTTTCATGTTATTTTTGTTAGTAGCAGCTTTAGTGGGGGAAATGACAATATGTGTGTAAAGGAAATCTACATTTGTTCTGTTTCATCTGCTTTGAGTTACTTTTTAAAAGTCTGGGAATTGGTGGCTGGATGTAGTGGCTCACGCCTGTAATCCCATTGCTTTAGGAGGCCAAAGTGGGAGAATCACTTGAGCCCAGGAGTTTGAGGGTACAGTAAGCTGTGTTTGTGCCACTGCACTTCAGCCTAGGTGACAGAATAAGACCCTGTCTCAAAAAAAAAAAAGTCTGGGAATTGTTTGCTCATCTTGGCTCAGAGAACCAAGATGAGCAACCAGTTATTTAAAATAATTCTTATACATTTGATGTTTCTAGTTCTGCCTCTTTTTTCCTTTGAGATCCATTACTATTAGTTATTTCACTGCTTATGGACTTGAAACATTTTAACACATTGATATAGATCCATAAATTTGCTGCCCATTTAACATGAGTTGCTTAAGATTTACATATGAGATGTTAGATTTTCTGGGGCCGCCCCCCAGCCTGCACACTTAAAACCACCATCAAAATACACACAAAACTCTACTGCCTAATTCTAGCCTCATCAATCAGAATTAGTACATCACAGTTTAATTTTCATAGATTATTAATGTAGTAGTTTCCATATGGCTGCTTACCTGCTACTTTATTTCAATCCTGTCAAATATATTTTAAGTATTTAATGAGTCGGTCTAATTTTCAAACTACAAATTTAATTTAAATAAAGCTGCAGGGACACCAGGACATGACAGCTTTGTAAGGAGTCAGTCATATTCCCAAACCATACATTTCCTGCATGTTGACTGTGGAATCTGAACACGTACTTTCTCTCTTGTAATCATACATAAACTCCATGAAGTCTTTCTTTTTGAAGTTTGAGTCTCAGGAAGATGAGAAATTACTTCAAGCAACTGAGAAGTTTCAAGCTGAATGTGCCTTAAAGTTTCCAAATCGTCAGTGCCTTACAACAGTAATTGATATAAGCGGAAAAACTGTTTTTATCACACGTTATCTCAAACCTTTAAACCCTCCTCAGGAGCTCCTTAATGTCTACCCCAATAATCTACAGGCAACTGCAGTAAGTATTTCATAGTCAATAAGTGCTGTGCTAAAACTGTTTTCACATTTCAATATATTGCCATTTTAATTACCATATTTCATAGTGCTTAAGATGTTAACTATATCGAGATCATTAATGACAAAAGTAATGATTAAAACATTTTTATTAACATGAGGTTTTCTTCCTTTAGAAAAGTCTGAAGGCAGCCAGGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATGACTTGAGGCCAGGAGTTTGACACTAGCCTGGCCAACATGGCGAAACCCCATCTCTACTGGAAATACAAAAATTAGCCTGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCCTAAGAATAGCTTGAACCTGGGAGGCAGAGGTTTCAGTGAGCCAAAATTGTGTCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGTCTAAAGGTACCAGGGATGACAGTTTCCATATGTTGGAAAATTAACATATGGAAAATGCTTTACACTTCCAAAATGTATTACATAAACATGTTTTCATTATGTATTCTCAATCACTTTGTTAGGATTTGAACTGATGCCTCTGACTTCAGAAGTTATACACATTCAACTGTACTAAGATAACTATCCAGTATTACGCCTAATGCTATATGCATCACTGAGTTCAAATTAAGCAAAATTTATTTCAAATATTTAAGTATTTTCAGCATTTAGACCATCATTCCAAAGTACTTCCACACTGGGCCATTAAATATGCATGCACCATTCTCTGGCTTCAGAGCACCATACCCATCACAAACTTGTGTGAATCAGAAGGCATATGTTAACCAGGCTAATTTTATGTGGATACCATAACCCATAACTGCCTTTGGAGAGTGGATAATATAGGAAGTTATTGCTACTAATAGTCACTAATATACTAATTTAGAAACAAGGTAATGATATATCTTTTTGTAGATATAGATGTATCAAAAAAAACCCCACTTTGTGTTCTACATTTCATTTGCTTTTTATATTACACAATTTTTATAGAAAACAATAATAGGGACTTCTATTCTACCTAGCATAGTAGATGTACAGAAAATTTCTCCCAGTAGAGAACACTTAAGAGTGATGAATAAAATATCTAATAAGTCATGGCTGAAATGAAAGTAAAGTGATAGGGAAAATATAAGAGACAAGAAATAAGAAAGGAAGATTCTACAATGATGAAAGCTTGAAATAGTGTTTGCTCTCAGGTCATCTGATAATTCCTAATGACTATAGCTGGGTTTCAATGACCACAAGGCTGTGGGACACAGGGATAATGCATGGGGCTACAGCAGCCTGGAAGACTGAATTAGAGACTCAAATGCAGAGTTGGGACTCTTCAGGATAATACCATCAATGGATAAACTAGGAAATGCCCTGTCTAAAGAAGGAACACTGCCTGTCTCAGTCTTGACTTTGGATGGAAGAGAAAAAAAGAAAACTTTCTAACACCTACTCTGTATTTACTCACATTTGAGACTGGAATTTATACTACCTGTATAACCCAAAAAAACTTCAACTGAAAATCTAGTTGAAAGTATTTCCTGTTGGTAATGCCCCTAGATCCCTGTTGAAAGCAAACATAAATACCACAAATATTCCTAGAAGAATGCCCTTCTAACTCAGCCTCAAAAAAATTCCACAGAAAAAAATTCCAAGAAACATGAACATACAATGAAAGATCATCAATGAAGAAGTAAATCACCATAAAGAAGGTAAGAGTTCATTCACAAAAACAACAAACTGAAGAATCAGGCCATAGTAACTCCAGACAGGAGAATTATTGGATGTAAAATATAACATAGACATGTTTAATATATTTAAGAAATTTGGGGAATTTAAAGTATAATTAAAAAACAATAGAGCATTGGAATTGACAGGCAGATTTTTTAAAGTACCAAGTGGAACTTATAACAATAAAAGATATAATAGTTAAAATTAGAAATTAAACAGGTTAAACAAAACATTGA | GCTTACCTCTTTCACTTAGTTACATATTCATCGTAACTTTTATTAGGTAGCTACTGTCTTGGCACTATGCTCAGCAGCAGGCAGTTATGACTGTGATGATGTTAAGATTTAGATGTCAAGGGACATTTTATGAGAATATATAGGAGGCTTCTGGAGATATCTCCATCCTAAATAACCCCTACAACCACTACTCCAACTTCTTAGGGTATAGTAATCAAATCTGGAATAGAAGCCACAGTTCAGCCCCAATATAAGGGGCAGACAAGAACAATTGGGATAATCTAGATTCTATTTGAGGTCATAAAAAGTAATGAAATGTTTTCCATTGCCTCATTCATTCACTCATTTGTTAAATACTTACTATGTGCCAAGTAGTATTCTCCACACTGGAGATAAAAAAACAAAATCCCTGAAGTCAGGAATCTTACTTTGTGGGAAAGACTGAGAAAACAAATATATCACAATGTCAAAAACATTTTCAAGCACTGCCTCTAAATTCTGTTTTAAAATTATTATTCTTTTTTAACAGAGTCTCACTCTGTTGCCCAGGTTGGAGTGCAGTGGCTCAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGAGCCCCCTACCTTAGCCTCCCAAGTAGCTGGGACTACAAGCACGCATCACTACACCTGGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTTAATAGAGACAGGGTCCCATTATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAGGTGATCCTCTTGTCTCAGCCTCTCAAAGTGCTGGGATTGCAGGTGTGAGACACTGTGCCCAGCCCCCAAAATTAATTTTTAAAATAAAATTTTCAATTTGTTCTGAAATCCTTTAAAATGTAACCAACTATGAAAATATTTTTATACAAAAAAAATTTAAAAATATTTAAAGACCCACTCTTTTTCATGTTATTTTTGTTAGTAGCAGCTTTAGTGGGGGAAATGACAATATGTGTGTAAAGGAAATCTACATTTGTTCTGTTTCATCTGCTTTGAGTTACTTTTTAAAAGTCTGGGAATTGGTGGCTGGATGTAGTGGCTCACGCCTGTAATCCCATTGCTTTAGGAGGCCAAAGTGGGAGAATCACTTGAGCCCAGGAGTTTGAGGGTACAGTAAGCTGTGTTTGTGCCACTGCACTTCAGCCTAGGTGACAGAATAAGACCCTGTCTCAAAAAAAAAAAAGTCTGGGAATTGTTTGCTCATCTTGGCTCAGAGAACCAAGATGAGCAACCAGTTATTTAAAATAATTCTTATACATTTGATGTTTCTAGTTCTGCCTCTTTTTTCCTTTGAGATCCATTACTATTAGTTATTTCACTGCTTATGGACTTGAAACATTTTAACACATTGATATAGATCCATAAATTTGCTGCCCATTTAACATGAGTTGCTTAAGATTTACATATGAGATGTTAGATTTTCTGGGGCCGCCCCCCAGCCTGCACACTTAAAACCACCATCAAAATACACACAAAACTCTACTGCCTAATTCTAGCCTCATCAATCAGAATTAGTACATCACAGTTTAATTTTCATAGATTATTAATGTAGTAGTTTCCATATGGCTGCTTACCTGCTACTTTATTTCAATCCTGTCAAATATATTTTAAGTATTTAATGAGTCGGTCTAATTTTCAAACTACAAATTTAATTTAAATAAAGCTGCAGGGACACCAGGACATGACAGCTTTGTAAGGAGTCAGTCATATTCCCAAACCATACATTTCCTGCATGTTGACTGTGGAATCTGAACACGTACTTTCTCTCTTGTAATCATACATAAACTCCATGAAGTCTTTCTTTTTGAAGTTTGAGTCTCAGGAAGATGAGAAATTACTTCAAGCAACTGAGAAGTTTCAAGCTGAATGTGCCTTAAAGTTTCCAAATCGTCAGTGCCTTACAACAGTAATTGATATAAGCGGAAAAACTGTTTTTATCACACGTTATCTCAAACCTTTAAACCCTCCTCAGGAGCTCCTTAATGTCTACCCCAATAATCTACAGGCAACTGCAGTATTTCATAGTCAATAAGTGCTGTGCTAAAACTGTTTTCACATTTCAATATATTGCCATTTTAATTACCATATTTCATAGTGCTTAAGATGTTAACTATATCGAGATCATTAATGACAAAAGTAATGATTAAAACATTTTTATTAACATGAGGTTTTCTTCCTTTAGAAAAGTCTGAAGGCAGCCAGGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATGACTTGAGGCCAGGAGTTTGACACTAGCCTGGCCAACATGGCGAAACCCCATCTCTACTGGAAATACAAAAATTAGCCTGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCCTAAGAATAGCTTGAACCTGGGAGGCAGAGGTTTCAGTGAGCCAAAATTGTGTCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGTCTAAAGGTACCAGGGATGACAGTTTCCATATGTTGGAAAATTAACATATGGAAAATGCTTTACACTTCCAAAATGTATTACATAAACATGTTTTCATTATGTATTCTCAATCACTTTGTTAGGATTTGAACTGATGCCTCTGACTTCAGAAGTTATACACATTCAACTGTACTAAGATAACTATCCAGTATTACGCCTAATGCTATATGCATCACTGAGTTCAAATTAAGCAAAATTTATTTCAAATATTTAAGTATTTTCAGCATTTAGACCATCATTCCAAAGTACTTCCACACTGGGCCATTAAATATGCATGCACCATTCTCTGGCTTCAGAGCACCATACCCATCACAAACTTGTGTGAATCAGAAGGCATATGTTAACCAGGCTAATTTTATGTGGATACCATAACCCATAACTGCCTTTGGAGAGTGGATAATATAGGAAGTTATTGCTACTAATAGTCACTAATATACTAATTTAGAAACAAGGTAATGATATATCTTTTTGTAGATATAGATGTATCAAAAAAAACCCCACTTTGTGTTCTACATTTCATTTGCTTTTTATATTACACAATTTTTATAGAAAACAATAATAGGGACTTCTATTCTACCTAGCATAGTAGATGTACAGAAAATTTCTCCCAGTAGAGAACACTTAAGAGTGATGAATAAAATATCTAATAAGTCATGGCTGAAATGAAAGTAAAGTGATAGGGAAAATATAAGAGACAAGAAATAAGAAAGGAAGATTCTACAATGATGAAAGCTTGAAATAGTGTTTGCTCTCAGGTCATCTGATAATTCCTAATGACTATAGCTGGGTTTCAATGACCACAAGGCTGTGGGACACAGGGATAATGCATGGGGCTACAGCAGCCTGGAAGACTGAATTAGAGACTCAAATGCAGAGTTGGGACTCTTCAGGATAATACCATCAATGGATAAACTAGGAAATGCCCTGTCTAAAGAAGGAACACTGCCTGTCTCAGTCTTGACTTTGGATGGAAGAGAAAAAAAGAAAACTTTCTAACACCTACTCTGTATTTACTCACATTTGAGACTGGAATTTATACTACCTGTATAACCCAAAAAAACTTCAACTGAAAATCTAGTTGAAAGTATTTCCTGTTGGTAATGCCCCTAGATCCCTGTTGAAAGCAAACATAAATACCACAAATATTCCTAGAAGAATGCCCTTCTAACTCAGCCTCAAAAAAATTCCACAGAAAAAAATTCCAAGAAACATGAACATACAATGAAAGATCATCAATGAAGAAGTAAATCACCATAAAGAAGGTAAGAGTTCATTCACAAAAACAACAAACTGAAGAATCAGGCCATAGTAACTCCAGACAGGAGAATTATTGGATGTAAAATATAACATAGACATGTTTAATATATTTAAGAAATTTGGGGAATTTAAAGTATAATTAAAAAACAATAGAGCATTGGAATTGACAGGCAGATTTTTTAAAGTACCAAGTGGAACTTATAACAATAAAAGATATAATAGTTAAAATTAGAAATTAAACAGGTTAAACAAAACATTGANNNN | pathogenic | 80,611 |
Clinical impact (benign or pathogenic) of the variant at chromosome 4, location 15587795, gene CC2D2A (coiled-coil and C2 domain containing 2A): what disease(s) if pathogenic? | benign | TTCCCAAGTACTATTGGGAACCACATGTCTTGGTTCCCAAGTACTATTACCCTCTCAACCAGGGCTCCTTAGAGAAATGACTGCTTTCAAGACTGGGCCAAGTGAAAATGCAAGATGATTCTAGAAAGTCTTTTTATATCAGAAAGTAAAGTAGTGCGAAATGAAAGAAAATTAAAAAAGACTTGTCAAAGGGACACAGTTTCTTCATCTGTAAAGAATGGGTAATAACAATAACCTTCCATATAGGATGTTTGGTGAGGATGGAGATATTAATACAATATTTAGTGAGCATTAGTTTCATTTTGTACATGTAAATGTTTGTAATATTTGAGATTTAAGAAATGAGGTAGGGGATGCAGCATTCTGTTTTATTATAAATTATTTTTGTAAAGCTCATTTTGATTATACAGGAACTGGTGGCTCGATATGTGTCCTTGATTCCCTTCTTGCCTGACACTGTCTCATTTGGTGGTATCTGTGACCTCTGGAGCACATCTGATGTAAGTAGTTCTTCTTCACAGATTTAGAAACTTGAGCTGACTTAATGAAATATTAGCTAACTGACTTGCATAATTTTAAATTGCAACATTCATTAGCCATAAAAATCTAATTGGCTGTTTAGTAATATGAGCTAAATTTTGAAGTATTTTTTCTTCCTGGTTCAATTTTCTCAAGGTTCAGAAGTTAACAAAAAATTAATTACACAAAAAATTTAAAAGTAACACTTCAGATGTCTTAATGCTGATTTACCCTCCCAGTATTACTGTAAAACTTCTTGGTTTTGTTCATGAAAAATACCAAAATTACATTCTATATTATAATTAGAAATGATATATTCCTTAATTTGTGGGCTTTGTAAGGCATGGCAAATTATTATTTATTCAGTATGTACTTCTTGGTCACTTACCACATACCAGATGCTGTACTAAATTCTGGCTATAAATGAAATAAACATAGTCTCTGCCCTCATGGAATTTACAATCTATGTATGCTGCATAATCTCTCAAATATATCATAGGTAGTATGAAACAAGCATATATTATCACAGGTATTAATTCTACTTCTGGATCTCATGTTGTACTGCTTTTGCATAAAACTGAACTGTATTATACAACTTCCTTTGAAGTATAGCCCTAAATTGAAGAAATTTAAGTGCACTTTAAATTTTTTGTTCCCCAATACATTTTGGCAACATAAATGTTGACAATTTTAGAGATAAAATTTCTACAACTTTGAGACATCTATAAGAAGTTACTGAAAGACTAGAATTTGTGTACTCTAGAGCAGCAGTCCCCTTTTGGCATCAGGGACTAGTTTTGTAGAATACAATTTTTCCATGGATCAGTCAGAGGTGGAGTCAGGGATGGTTTCGGAATGAAACTGTTTCACCTCAGATCATCAGGCATTAGATTCTCATAAGGCCTGCACGACCTGGATTCCTTGCATGTGCAATTCATAATAGGGTTTGCACTCCTATGAGAATCTAATGCCCCCACTGATGTGACAAGAGGCAGAGCTCACGTGGTAATGCTTGTTCACCTGCTACTCACCTCCTGCTGTGCAGCCTAGTTCCTAACAGGCCACAGACTGGCACTAGTCCACAGCTGGGGGACTGGGGACCCTTGCTCTAGAGCTAGACTGGCTTTACTACTTCCTAAGTGTTACCTTATTAATCTGTACCTCAACTTGCTCATCTGTAAAATATGCAAATTGTTCTAGAATTAAGTAAGTTTAATGAAGTAATGTGCTTTAAAGATCGTTTAGCACATGAACTATATATACATTAAAAATAAAAACGAAACTTTGAAATTTTTCTCCCCGACCCTACCACAATCATAGTGAGTATTGATTCTAGAAATCCACATCATCAATGTCAGAGAAAACACCATGCCCACTAAAAGTGGTTTTTTAAAAAAATGAATTATCAACATAGTATCAAAATTTCGGGCAAGATTATAGGTCTTACACTTCAAGACACTAACCTCTACTATGACATATTAGAATCCTGCACAACCAATCCAGAATAAAGCATTGAGTCATACAACATAATTTTTTTTTCTTTTTGTCAGCAATTTCTTGATCTCCTGGCAGGGGATGAAGAAGAACATGCAGTACTATTGTGTAATTACTTTCTGTCTCTGGGTAAGAAGGCCTGGCTGTTGATGGGCAATGCTATTCCTGAGGTAAGACCACATAGGCTGCCTTTAACAGAGGAGTATAGTTGTCTAATCGAGTTGTGTGTTCCAGATCACACACAGGACATATTTTCATAACGATCCTTTGGGTTGCTAGGAAAGTGGCCCACAGATGCCGTAACGGGCAGAGAGAACTACCAGTGATAAGACATGAAATGGTTTTCAGTGGTCCTCAGGGCCCCATGCAACACTTCAGATTATTTTTTGGCAAACCCGAACCCTTTACCATCCAAAGCCCCCACCTAGCTCTGTCCTTTTAGTATGGGCCTCTTCCCAGCCATGTTCCCAAGAATTCAGATTCCCTTAATGATGTGGTAGTCTTCATGCTTTGCAATGAAGAGGATCCAAAGGAGTGTGTGTGGTAAGGTTAGAGATCTCTCCTTTCATGCCTACTGCTTCTATAGGTATCTGCTGCTAGCCTGGCATGCAAAGGGGAATAAGCCAGATAAGGAGGAATGAAAAGAACGTTAGCAGCTTTATTTTTATATTAACATTGTTATTTTTATTAGATTGGAGACTATTAGAATTTTTCCCTAGCCCACTACAAATATCCCTACATTTGTGATGCAAATAGGTAAGTTTAGAAAATTCACATACATTAGAGCAGTTTATCCAAAGAGGCCACAAGGCTCTAGGAATCCTTGGAAATTCGATAGCATGAGTTGCTGCAAGGCAGGTAATAAAGTAGTATCATATTCATATTCAAATTCATTCTCCATCATTATCTCCCAGATAGTCTGGTCCCAATAAAAGAACACTGGGCTTGGAAGTTATAAGGCTGAAGTTCAAGGTTCTGTGCCCACTCCTCATTAGCTGTGTGACACTAAGTAGGTCACTCCACAACTCTGGGTTTTATAGAAAAGTGGGATAATTTCTGCCCCGCCTTCCCCAGAAAACTGTTGTGAGCATCAAGTGAAATCATACAGGGGGAATAAATGATAACAATAATAAATAAATAATAATTTAAATAAATAATAAAAAAATTCTCATTGTAAAAATAGAACCTAACAATACGTAAGTATTCTGTGTAAAAAGTAGAAGTCCCTTGTCAGAAGATCCAGAATACCTTGACAAGGGACTTCTACTTCCCCAACCCCCAATTCCACTCCCCTCCCCAGGTACAGTCATTCTTAACTGTTTGGTACATATCCTTCCAAATCTACTATGCATTTACATAGTTACAAATGTTTATCAAATATAAATTACTATATTAGAAATAGAAATATTTCTATTCAAACATAATCAGCCTTCTATAGACTTAAATGGCAGTCTTACTGACTCTAAGAAGAAAACGCCAGTGACTGCTTATTTCCACTAATAATAGTTCTTCAGCCAATCTTAAGATATACTGGTTGAGTAAGATGATGACTGTCCTTTTTTGGTCATTGTACTAGTATCAGATGCAAGAATTTTGCAAAACTAAGCATTCGACTTTACTTTTTAAATTCAGCATAACCTAGAACTTCAAAGTAGTTTTCACCATTAACCATGAAATTTCAGAAATTAAGGGTCCAAGTAAAATAATGAATTGTCTGTGCAAACTACTATTGGCCTTCACTGCATAAATAGTTGAAAACTAGTTTTAATGGCCATCTTCTTTCAGGGTCCAACTGCCTATGTGCTAACTTGGGAGCAAGGTCGTTATTTAATATGGAATCCCTGCAGTGGACATTTTTATGGACAATTTGATACATTCTGTCCCTTGAAAAATGTGGGCTGTTTAATAGGTCCTGACAATGTAAGTATTAACATTTCTTCTTAAATATGGTTAGCTGTCGTTTCTTTTAAATAACTGACCTATTGATTTAAATATTTTATGTAACCAAAATATTTATATAAATGAATATATATATATATACACACATATATATATACCAGTTAAAAGAAATGCAGTGTCAAGC | TTCCCAAGTACTATTGGGAACCACATGTCTTGGTTCCCAAGTACTATTACCCTCTCAACCAGGGCTCCTTAGAGAAATGACTGCTTTCAAGACTGGGCCAAGTGAAAATGCAAGATGATTCTAGAAAGTCTTTTTATATCAGAAAGTAAAGTAGTGCGAAATGAAAGAAAATTAAAAAAGACTTGTCAAAGGGACACAGTTTCTTCATCTGTAAAGAATGGGTAATAACAATAACCTTCCATATAGGATGTTTGGTGAGGATGGAGATATTAATACAATATTTAGTGAGCATTAGTTTCATTTTGTACATGTAAATGTTTGTAATATTTGAGATTTAAGAAATGAGGTAGGGGATGCAGCATTCTGTTTTATTATAAATTATTTTTGTAAAGCTCATTTTGATTATACAGGAACTGGTGGCTCGATATGTGTCCTTGATTCCCTTCTTGCCTGACACTGTCTCATTTGGTGGTATCTGTGACCTCTGGAGCACATCTGATGTAAGTAGTTCTTCTTCACAGATTTAGAAACTTGAGCTGACTTAATGAAATATTAGCTAACTGACTTGCATAATTTTAAATTGCAACATTCATTAGCCATAAAAATCTAATTGGCTGTTTAGTAATATGAGCTAAATTTTGAAGTATTTTTTCTTCCTGGTTCAATTTTCTCAAGGTTCAGAAGTTAACAAAAAATTAATTACACAAAAAATTTAAAAGTAACACTTCAGATGTCTTAATGCTGATTTACCCTCCCAGTATTACTGTAAAACTTCTTGGTTTTGTTCATGAAAAATACCAAAATTACATTCTATATTATAATTAGAAATGATATATTCCTTAATTTGTGGGCTTTGTAAGGCATGGCAAATTATTATTTATTCAGTATGTACTTCTTGGTCACTTACCACATACCAGATGCTGTACTAAATTCTGGCTATAAATGAAATAAACATAGTCTCTGCCCTCATGGAATTTACAATCTATGTATGCTGCATAATCTCTCAAATATATCATAGGTAGTATGAAACAAGCATATATTATCACAGGTATTAATTCTACTTCTGGATCTCATGTTGTACTGCTTTTGCATAAAACTGAACTGTATTATACAACTTCCTTTGAAGTATAGCCCTAAATTGAAGAAATTTAAGTGCACTTTAAATTTTTTGTTCCCCAATACATTTTGGCAACATAAATGTTGACAATTTTAGAGATAAAATTTCTACAACTTTGAGACATCTATAAGAAGTTACTGAAAGACTAGAATTTGTGTACTCTAGAGCAGCAGTCCCCTTTTGGCATCAGGGACTAGTTTTGTAGAATACAATTTTTCCATGGATCAGTCAGAGGTGGAGTCAGGGATGGTTTCGGAATGAAACTGTTTCACCTCAGATCATCAGGCATTAGATTCTCATAAGGCCTGCACGACCTGGATTCCTTGCATGTGCAATTCATAATAGGGTTTGCACTCCTATGAGAATCTAATGCCCCCACTGATGTGACAAGAGGCAGAGCTCACGTGGTAATGCTTGTTCACCTGCTACTCACCTCCTGCTGTGCAGCCTAGTTCCTAACAGGCCACAGACTGGCACTAGTCCACAGCTGGGGGACTGGGGACCCTTGCTCTAGAGCTAGACTGGCTTTACTACTTCCTAAGTGTTACCTTATTAATCTGTACCTCAACTTGCTCATCTGTAAAATATGCAAATTGTTCTAGAATTAAGTAAGTTTAATGAAGTAATGTGCTTTAAAGATCGTTTAGCACATGAACTATATATACATTAAAAATAAAAACGAAACTTTGAAATTTTTCTCCCCGACCCTACCACAATCATAGTGAGTATTGATTCTAGAAATCCACATCATCAATGTCAGAGAAAACACCATGCCCACTAAAAGTGGTTTTTTAAAAAAATGAATTATCAACATAGTATCAAAATTTCGGGCAAGATTATAGGTCTTACACTTCAAGACACTAACCTCTACTATGACATATTAGAATCCTGCACAACCAATCCAGAATAAAGCATTGAGTCATACAACATAATTTTTTTTCTTTTTGTCAGCAATTTCTTGATCTCCTGGCAGGGGATGAAGAAGAACATGCAGTACTATTGTGTAATTACTTTCTGTCTCTGGGTAAGAAGGCCTGGCTGTTGATGGGCAATGCTATTCCTGAGGTAAGACCACATAGGCTGCCTTTAACAGAGGAGTATAGTTGTCTAATCGAGTTGTGTGTTCCAGATCACACACAGGACATATTTTCATAACGATCCTTTGGGTTGCTAGGAAAGTGGCCCACAGATGCCGTAACGGGCAGAGAGAACTACCAGTGATAAGACATGAAATGGTTTTCAGTGGTCCTCAGGGCCCCATGCAACACTTCAGATTATTTTTTGGCAAACCCGAACCCTTTACCATCCAAAGCCCCCACCTAGCTCTGTCCTTTTAGTATGGGCCTCTTCCCAGCCATGTTCCCAAGAATTCAGATTCCCTTAATGATGTGGTAGTCTTCATGCTTTGCAATGAAGAGGATCCAAAGGAGTGTGTGTGGTAAGGTTAGAGATCTCTCCTTTCATGCCTACTGCTTCTATAGGTATCTGCTGCTAGCCTGGCATGCAAAGGGGAATAAGCCAGATAAGGAGGAATGAAAAGAACGTTAGCAGCTTTATTTTTATATTAACATTGTTATTTTTATTAGATTGGAGACTATTAGAATTTTTCCCTAGCCCACTACAAATATCCCTACATTTGTGATGCAAATAGGTAAGTTTAGAAAATTCACATACATTAGAGCAGTTTATCCAAAGAGGCCACAAGGCTCTAGGAATCCTTGGAAATTCGATAGCATGAGTTGCTGCAAGGCAGGTAATAAAGTAGTATCATATTCATATTCAAATTCATTCTCCATCATTATCTCCCAGATAGTCTGGTCCCAATAAAAGAACACTGGGCTTGGAAGTTATAAGGCTGAAGTTCAAGGTTCTGTGCCCACTCCTCATTAGCTGTGTGACACTAAGTAGGTCACTCCACAACTCTGGGTTTTATAGAAAAGTGGGATAATTTCTGCCCCGCCTTCCCCAGAAAACTGTTGTGAGCATCAAGTGAAATCATACAGGGGGAATAAATGATAACAATAATAAATAAATAATAATTTAAATAAATAATAAAAAAATTCTCATTGTAAAAATAGAACCTAACAATACGTAAGTATTCTGTGTAAAAAGTAGAAGTCCCTTGTCAGAAGATCCAGAATACCTTGACAAGGGACTTCTACTTCCCCAACCCCCAATTCCACTCCCCTCCCCAGGTACAGTCATTCTTAACTGTTTGGTACATATCCTTCCAAATCTACTATGCATTTACATAGTTACAAATGTTTATCAAATATAAATTACTATATTAGAAATAGAAATATTTCTATTCAAACATAATCAGCCTTCTATAGACTTAAATGGCAGTCTTACTGACTCTAAGAAGAAAACGCCAGTGACTGCTTATTTCCACTAATAATAGTTCTTCAGCCAATCTTAAGATATACTGGTTGAGTAAGATGATGACTGTCCTTTTTTGGTCATTGTACTAGTATCAGATGCAAGAATTTTGCAAAACTAAGCATTCGACTTTACTTTTTAAATTCAGCATAACCTAGAACTTCAAAGTAGTTTTCACCATTAACCATGAAATTTCAGAAATTAAGGGTCCAAGTAAAATAATGAATTGTCTGTGCAAACTACTATTGGCCTTCACTGCATAAATAGTTGAAAACTAGTTTTAATGGCCATCTTCTTTCAGGGTCCAACTGCCTATGTGCTAACTTGGGAGCAAGGTCGTTATTTAATATGGAATCCCTGCAGTGGACATTTTTATGGACAATTTGATACATTCTGTCCCTTGAAAAATGTGGGCTGTTTAATAGGTCCTGACAATGTAAGTATTAACATTTCTTCTTAAATATGGTTAGCTGTCGTTTCTTTTAAATAACTGACCTATTGATTTAAATATTTTATGTAACCAAAATATTTATATAAATGAATATATATATATATACACACATATATATATACCAGTTAAAAGAAATGCAGTGTCAAGCN | benign | 80,615 |
Determine whether the variant at chromosome 4, position 15587832, in gene CC2D2A (coiled-coil and C2 domain containing 2A) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['CC2D2A-related_disorder', 'COACH_syndrome_2', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | CAAGTACTATTACCCTCTCAACCAGGGCTCCTTAGAGAAATGACTGCTTTCAAGACTGGGCCAAGTGAAAATGCAAGATGATTCTAGAAAGTCTTTTTATATCAGAAAGTAAAGTAGTGCGAAATGAAAGAAAATTAAAAAAGACTTGTCAAAGGGACACAGTTTCTTCATCTGTAAAGAATGGGTAATAACAATAACCTTCCATATAGGATGTTTGGTGAGGATGGAGATATTAATACAATATTTAGTGAGCATTAGTTTCATTTTGTACATGTAAATGTTTGTAATATTTGAGATTTAAGAAATGAGGTAGGGGATGCAGCATTCTGTTTTATTATAAATTATTTTTGTAAAGCTCATTTTGATTATACAGGAACTGGTGGCTCGATATGTGTCCTTGATTCCCTTCTTGCCTGACACTGTCTCATTTGGTGGTATCTGTGACCTCTGGAGCACATCTGATGTAAGTAGTTCTTCTTCACAGATTTAGAAACTTGAGCTGACTTAATGAAATATTAGCTAACTGACTTGCATAATTTTAAATTGCAACATTCATTAGCCATAAAAATCTAATTGGCTGTTTAGTAATATGAGCTAAATTTTGAAGTATTTTTTCTTCCTGGTTCAATTTTCTCAAGGTTCAGAAGTTAACAAAAAATTAATTACACAAAAAATTTAAAAGTAACACTTCAGATGTCTTAATGCTGATTTACCCTCCCAGTATTACTGTAAAACTTCTTGGTTTTGTTCATGAAAAATACCAAAATTACATTCTATATTATAATTAGAAATGATATATTCCTTAATTTGTGGGCTTTGTAAGGCATGGCAAATTATTATTTATTCAGTATGTACTTCTTGGTCACTTACCACATACCAGATGCTGTACTAAATTCTGGCTATAAATGAAATAAACATAGTCTCTGCCCTCATGGAATTTACAATCTATGTATGCTGCATAATCTCTCAAATATATCATAGGTAGTATGAAACAAGCATATATTATCACAGGTATTAATTCTACTTCTGGATCTCATGTTGTACTGCTTTTGCATAAAACTGAACTGTATTATACAACTTCCTTTGAAGTATAGCCCTAAATTGAAGAAATTTAAGTGCACTTTAAATTTTTTGTTCCCCAATACATTTTGGCAACATAAATGTTGACAATTTTAGAGATAAAATTTCTACAACTTTGAGACATCTATAAGAAGTTACTGAAAGACTAGAATTTGTGTACTCTAGAGCAGCAGTCCCCTTTTGGCATCAGGGACTAGTTTTGTAGAATACAATTTTTCCATGGATCAGTCAGAGGTGGAGTCAGGGATGGTTTCGGAATGAAACTGTTTCACCTCAGATCATCAGGCATTAGATTCTCATAAGGCCTGCACGACCTGGATTCCTTGCATGTGCAATTCATAATAGGGTTTGCACTCCTATGAGAATCTAATGCCCCCACTGATGTGACAAGAGGCAGAGCTCACGTGGTAATGCTTGTTCACCTGCTACTCACCTCCTGCTGTGCAGCCTAGTTCCTAACAGGCCACAGACTGGCACTAGTCCACAGCTGGGGGACTGGGGACCCTTGCTCTAGAGCTAGACTGGCTTTACTACTTCCTAAGTGTTACCTTATTAATCTGTACCTCAACTTGCTCATCTGTAAAATATGCAAATTGTTCTAGAATTAAGTAAGTTTAATGAAGTAATGTGCTTTAAAGATCGTTTAGCACATGAACTATATATACATTAAAAATAAAAACGAAACTTTGAAATTTTTCTCCCCGACCCTACCACAATCATAGTGAGTATTGATTCTAGAAATCCACATCATCAATGTCAGAGAAAACACCATGCCCACTAAAAGTGGTTTTTTAAAAAAATGAATTATCAACATAGTATCAAAATTTCGGGCAAGATTATAGGTCTTACACTTCAAGACACTAACCTCTACTATGACATATTAGAATCCTGCACAACCAATCCAGAATAAAGCATTGAGTCATACAACATAATTTTTTTTTCTTTTTGTCAGCAATTTCTTGATCTCCTGGCAGGGGATGAAGAAGAACATGCAGTACTATTGTGTAATTACTTTCTGTCTCTGGGTAAGAAGGCCTGGCTGTTGATGGGCAATGCTATTCCTGAGGTAAGACCACATAGGCTGCCTTTAACAGAGGAGTATAGTTGTCTAATCGAGTTGTGTGTTCCAGATCACACACAGGACATATTTTCATAACGATCCTTTGGGTTGCTAGGAAAGTGGCCCACAGATGCCGTAACGGGCAGAGAGAACTACCAGTGATAAGACATGAAATGGTTTTCAGTGGTCCTCAGGGCCCCATGCAACACTTCAGATTATTTTTTGGCAAACCCGAACCCTTTACCATCCAAAGCCCCCACCTAGCTCTGTCCTTTTAGTATGGGCCTCTTCCCAGCCATGTTCCCAAGAATTCAGATTCCCTTAATGATGTGGTAGTCTTCATGCTTTGCAATGAAGAGGATCCAAAGGAGTGTGTGTGGTAAGGTTAGAGATCTCTCCTTTCATGCCTACTGCTTCTATAGGTATCTGCTGCTAGCCTGGCATGCAAAGGGGAATAAGCCAGATAAGGAGGAATGAAAAGAACGTTAGCAGCTTTATTTTTATATTAACATTGTTATTTTTATTAGATTGGAGACTATTAGAATTTTTCCCTAGCCCACTACAAATATCCCTACATTTGTGATGCAAATAGGTAAGTTTAGAAAATTCACATACATTAGAGCAGTTTATCCAAAGAGGCCACAAGGCTCTAGGAATCCTTGGAAATTCGATAGCATGAGTTGCTGCAAGGCAGGTAATAAAGTAGTATCATATTCATATTCAAATTCATTCTCCATCATTATCTCCCAGATAGTCTGGTCCCAATAAAAGAACACTGGGCTTGGAAGTTATAAGGCTGAAGTTCAAGGTTCTGTGCCCACTCCTCATTAGCTGTGTGACACTAAGTAGGTCACTCCACAACTCTGGGTTTTATAGAAAAGTGGGATAATTTCTGCCCCGCCTTCCCCAGAAAACTGTTGTGAGCATCAAGTGAAATCATACAGGGGGAATAAATGATAACAATAATAAATAAATAATAATTTAAATAAATAATAAAAAAATTCTCATTGTAAAAATAGAACCTAACAATACGTAAGTATTCTGTGTAAAAAGTAGAAGTCCCTTGTCAGAAGATCCAGAATACCTTGACAAGGGACTTCTACTTCCCCAACCCCCAATTCCACTCCCCTCCCCAGGTACAGTCATTCTTAACTGTTTGGTACATATCCTTCCAAATCTACTATGCATTTACATAGTTACAAATGTTTATCAAATATAAATTACTATATTAGAAATAGAAATATTTCTATTCAAACATAATCAGCCTTCTATAGACTTAAATGGCAGTCTTACTGACTCTAAGAAGAAAACGCCAGTGACTGCTTATTTCCACTAATAATAGTTCTTCAGCCAATCTTAAGATATACTGGTTGAGTAAGATGATGACTGTCCTTTTTTGGTCATTGTACTAGTATCAGATGCAAGAATTTTGCAAAACTAAGCATTCGACTTTACTTTTTAAATTCAGCATAACCTAGAACTTCAAAGTAGTTTTCACCATTAACCATGAAATTTCAGAAATTAAGGGTCCAAGTAAAATAATGAATTGTCTGTGCAAACTACTATTGGCCTTCACTGCATAAATAGTTGAAAACTAGTTTTAATGGCCATCTTCTTTCAGGGTCCAACTGCCTATGTGCTAACTTGGGAGCAAGGTCGTTATTTAATATGGAATCCCTGCAGTGGACATTTTTATGGACAATTTGATACATTCTGTCCCTTGAAAAATGTGGGCTGTTTAATAGGTCCTGACAATGTAAGTATTAACATTTCTTCTTAAATATGGTTAGCTGTCGTTTCTTTTAAATAACTGACCTATTGATTTAAATATTTTATGTAACCAAAATATTTATATAAATGAATATATATATATATACACACATATATATATACCAGTTAAAAGAAATGCAGTGTCAAGCACAGTGGCGGAACTGTGCTAAATACAACTTTTGGTTC | CAAGTACTATTACCCTCTCAACCAGGGCTCCTTAGAGAAATGACTGCTTTCAAGACTGGGCCAAGTGAAAATGCAAGATGATTCTAGAAAGTCTTTTTATATCAGAAAGTAAAGTAGTGCGAAATGAAAGAAAATTAAAAAAGACTTGTCAAAGGGACACAGTTTCTTCATCTGTAAAGAATGGGTAATAACAATAACCTTCCATATAGGATGTTTGGTGAGGATGGAGATATTAATACAATATTTAGTGAGCATTAGTTTCATTTTGTACATGTAAATGTTTGTAATATTTGAGATTTAAGAAATGAGGTAGGGGATGCAGCATTCTGTTTTATTATAAATTATTTTTGTAAAGCTCATTTTGATTATACAGGAACTGGTGGCTCGATATGTGTCCTTGATTCCCTTCTTGCCTGACACTGTCTCATTTGGTGGTATCTGTGACCTCTGGAGCACATCTGATGTAAGTAGTTCTTCTTCACAGATTTAGAAACTTGAGCTGACTTAATGAAATATTAGCTAACTGACTTGCATAATTTTAAATTGCAACATTCATTAGCCATAAAAATCTAATTGGCTGTTTAGTAATATGAGCTAAATTTTGAAGTATTTTTTCTTCCTGGTTCAATTTTCTCAAGGTTCAGAAGTTAACAAAAAATTAATTACACAAAAAATTTAAAAGTAACACTTCAGATGTCTTAATGCTGATTTACCCTCCCAGTATTACTGTAAAACTTCTTGGTTTTGTTCATGAAAAATACCAAAATTACATTCTATATTATAATTAGAAATGATATATTCCTTAATTTGTGGGCTTTGTAAGGCATGGCAAATTATTATTTATTCAGTATGTACTTCTTGGTCACTTACCACATACCAGATGCTGTACTAAATTCTGGCTATAAATGAAATAAACATAGTCTCTGCCCTCATGGAATTTACAATCTATGTATGCTGCATAATCTCTCAAATATATCATAGGTAGTATGAAACAAGCATATATTATCACAGGTATTAATTCTACTTCTGGATCTCATGTTGTACTGCTTTTGCATAAAACTGAACTGTATTATACAACTTCCTTTGAAGTATAGCCCTAAATTGAAGAAATTTAAGTGCACTTTAAATTTTTTGTTCCCCAATACATTTTGGCAACATAAATGTTGACAATTTTAGAGATAAAATTTCTACAACTTTGAGACATCTATAAGAAGTTACTGAAAGACTAGAATTTGTGTACTCTAGAGCAGCAGTCCCCTTTTGGCATCAGGGACTAGTTTTGTAGAATACAATTTTTCCATGGATCAGTCAGAGGTGGAGTCAGGGATGGTTTCGGAATGAAACTGTTTCACCTCAGATCATCAGGCATTAGATTCTCATAAGGCCTGCACGACCTGGATTCCTTGCATGTGCAATTCATAATAGGGTTTGCACTCCTATGAGAATCTAATGCCCCCACTGATGTGACAAGAGGCAGAGCTCACGTGGTAATGCTTGTTCACCTGCTACTCACCTCCTGCTGTGCAGCCTAGTTCCTAACAGGCCACAGACTGGCACTAGTCCACAGCTGGGGGACTGGGGACCCTTGCTCTAGAGCTAGACTGGCTTTACTACTTCCTAAGTGTTACCTTATTAATCTGTACCTCAACTTGCTCATCTGTAAAATATGCAAATTGTTCTAGAATTAAGTAAGTTTAATGAAGTAATGTGCTTTAAAGATCGTTTAGCACATGAACTATATATACATTAAAAATAAAAACGAAACTTTGAAATTTTTCTCCCCGACCCTACCACAATCATAGTGAGTATTGATTCTAGAAATCCACATCATCAATGTCAGAGAAAACACCATGCCCACTAAAAGTGGTTTTTTAAAAAAATGAATTATCAACATAGTATCAAAATTTCGGGCAAGATTATAGGTCTTACACTTCAAGACACTAACCTCTACTATGACATATTAGAATCCTGCACAACCAATCCAGAATAAAGCATTGAGTCATACAACATAATTTTTTTTTCTTTTTGTCAGCAATTTCTTGATCTCCTGGGCAGGGGATGAAGAAGAACATGCAGTACTATTGTGTAATTACTTTCTGTCTCTGGGTAAGAAGGCCTGGCTGTTGATGGGCAATGCTATTCCTGAGGTAAGACCACATAGGCTGCCTTTAACAGAGGAGTATAGTTGTCTAATCGAGTTGTGTGTTCCAGATCACACACAGGACATATTTTCATAACGATCCTTTGGGTTGCTAGGAAAGTGGCCCACAGATGCCGTAACGGGCAGAGAGAACTACCAGTGATAAGACATGAAATGGTTTTCAGTGGTCCTCAGGGCCCCATGCAACACTTCAGATTATTTTTTGGCAAACCCGAACCCTTTACCATCCAAAGCCCCCACCTAGCTCTGTCCTTTTAGTATGGGCCTCTTCCCAGCCATGTTCCCAAGAATTCAGATTCCCTTAATGATGTGGTAGTCTTCATGCTTTGCAATGAAGAGGATCCAAAGGAGTGTGTGTGGTAAGGTTAGAGATCTCTCCTTTCATGCCTACTGCTTCTATAGGTATCTGCTGCTAGCCTGGCATGCAAAGGGGAATAAGCCAGATAAGGAGGAATGAAAAGAACGTTAGCAGCTTTATTTTTATATTAACATTGTTATTTTTATTAGATTGGAGACTATTAGAATTTTTCCCTAGCCCACTACAAATATCCCTACATTTGTGATGCAAATAGGTAAGTTTAGAAAATTCACATACATTAGAGCAGTTTATCCAAAGAGGCCACAAGGCTCTAGGAATCCTTGGAAATTCGATAGCATGAGTTGCTGCAAGGCAGGTAATAAAGTAGTATCATATTCATATTCAAATTCATTCTCCATCATTATCTCCCAGATAGTCTGGTCCCAATAAAAGAACACTGGGCTTGGAAGTTATAAGGCTGAAGTTCAAGGTTCTGTGCCCACTCCTCATTAGCTGTGTGACACTAAGTAGGTCACTCCACAACTCTGGGTTTTATAGAAAAGTGGGATAATTTCTGCCCCGCCTTCCCCAGAAAACTGTTGTGAGCATCAAGTGAAATCATACAGGGGGAATAAATGATAACAATAATAAATAAATAATAATTTAAATAAATAATAAAAAAATTCTCATTGTAAAAATAGAACCTAACAATACGTAAGTATTCTGTGTAAAAAGTAGAAGTCCCTTGTCAGAAGATCCAGAATACCTTGACAAGGGACTTCTACTTCCCCAACCCCCAATTCCACTCCCCTCCCCAGGTACAGTCATTCTTAACTGTTTGGTACATATCCTTCCAAATCTACTATGCATTTACATAGTTACAAATGTTTATCAAATATAAATTACTATATTAGAAATAGAAATATTTCTATTCAAACATAATCAGCCTTCTATAGACTTAAATGGCAGTCTTACTGACTCTAAGAAGAAAACGCCAGTGACTGCTTATTTCCACTAATAATAGTTCTTCAGCCAATCTTAAGATATACTGGTTGAGTAAGATGATGACTGTCCTTTTTTGGTCATTGTACTAGTATCAGATGCAAGAATTTTGCAAAACTAAGCATTCGACTTTACTTTTTAAATTCAGCATAACCTAGAACTTCAAAGTAGTTTTCACCATTAACCATGAAATTTCAGAAATTAAGGGTCCAAGTAAAATAATGAATTGTCTGTGCAAACTACTATTGGCCTTCACTGCATAAATAGTTGAAAACTAGTTTTAATGGCCATCTTCTTTCAGGGTCCAACTGCCTATGTGCTAACTTGGGAGCAAGGTCGTTATTTAATATGGAATCCCTGCAGTGGACATTTTTATGGACAATTTGATACATTCTGTCCCTTGAAAAATGTGGGCTGTTTAATAGGTCCTGACAATGTAAGTATTAACATTTCTTCTTAAATATGGTTAGCTGTCGTTTCTTTTAAATAACTGACCTATTGATTTAAATATTTTATGTAACCAAAATATTTATATAAATGAATATATATATATATACACACATATATATATACCAGTTAAAAGAAATGCAGTGTCAAGCACAGTGGCGGAACTGTGCTAAATACAACTTTTGGTT | pathogenic | 80,616 |
Located at chromosome 4 position 15587928, the variant affecting gene CC2D2A (coiled-coil and C2 domain containing 2A)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Anencephaly', 'COACH_syndrome_2', 'Clubfoot', 'Encephalocele', 'Familial_aplasia_of_the_vermis', 'Inborn_genetic_diseases', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Microcephaly', 'Narrow_chest', 'Oligohydramnios', 'Polycystic_kidney_disease', 'Polydactyly', 'Polydactyly,_postaxial,_type_A1', 'Renal_cyst', 'Retinitis_pigmentosa_93'] | TTATATCAGAAAGTAAAGTAGTGCGAAATGAAAGAAAATTAAAAAAGACTTGTCAAAGGGACACAGTTTCTTCATCTGTAAAGAATGGGTAATAACAATAACCTTCCATATAGGATGTTTGGTGAGGATGGAGATATTAATACAATATTTAGTGAGCATTAGTTTCATTTTGTACATGTAAATGTTTGTAATATTTGAGATTTAAGAAATGAGGTAGGGGATGCAGCATTCTGTTTTATTATAAATTATTTTTGTAAAGCTCATTTTGATTATACAGGAACTGGTGGCTCGATATGTGTCCTTGATTCCCTTCTTGCCTGACACTGTCTCATTTGGTGGTATCTGTGACCTCTGGAGCACATCTGATGTAAGTAGTTCTTCTTCACAGATTTAGAAACTTGAGCTGACTTAATGAAATATTAGCTAACTGACTTGCATAATTTTAAATTGCAACATTCATTAGCCATAAAAATCTAATTGGCTGTTTAGTAATATGAGCTAAATTTTGAAGTATTTTTTCTTCCTGGTTCAATTTTCTCAAGGTTCAGAAGTTAACAAAAAATTAATTACACAAAAAATTTAAAAGTAACACTTCAGATGTCTTAATGCTGATTTACCCTCCCAGTATTACTGTAAAACTTCTTGGTTTTGTTCATGAAAAATACCAAAATTACATTCTATATTATAATTAGAAATGATATATTCCTTAATTTGTGGGCTTTGTAAGGCATGGCAAATTATTATTTATTCAGTATGTACTTCTTGGTCACTTACCACATACCAGATGCTGTACTAAATTCTGGCTATAAATGAAATAAACATAGTCTCTGCCCTCATGGAATTTACAATCTATGTATGCTGCATAATCTCTCAAATATATCATAGGTAGTATGAAACAAGCATATATTATCACAGGTATTAATTCTACTTCTGGATCTCATGTTGTACTGCTTTTGCATAAAACTGAACTGTATTATACAACTTCCTTTGAAGTATAGCCCTAAATTGAAGAAATTTAAGTGCACTTTAAATTTTTTGTTCCCCAATACATTTTGGCAACATAAATGTTGACAATTTTAGAGATAAAATTTCTACAACTTTGAGACATCTATAAGAAGTTACTGAAAGACTAGAATTTGTGTACTCTAGAGCAGCAGTCCCCTTTTGGCATCAGGGACTAGTTTTGTAGAATACAATTTTTCCATGGATCAGTCAGAGGTGGAGTCAGGGATGGTTTCGGAATGAAACTGTTTCACCTCAGATCATCAGGCATTAGATTCTCATAAGGCCTGCACGACCTGGATTCCTTGCATGTGCAATTCATAATAGGGTTTGCACTCCTATGAGAATCTAATGCCCCCACTGATGTGACAAGAGGCAGAGCTCACGTGGTAATGCTTGTTCACCTGCTACTCACCTCCTGCTGTGCAGCCTAGTTCCTAACAGGCCACAGACTGGCACTAGTCCACAGCTGGGGGACTGGGGACCCTTGCTCTAGAGCTAGACTGGCTTTACTACTTCCTAAGTGTTACCTTATTAATCTGTACCTCAACTTGCTCATCTGTAAAATATGCAAATTGTTCTAGAATTAAGTAAGTTTAATGAAGTAATGTGCTTTAAAGATCGTTTAGCACATGAACTATATATACATTAAAAATAAAAACGAAACTTTGAAATTTTTCTCCCCGACCCTACCACAATCATAGTGAGTATTGATTCTAGAAATCCACATCATCAATGTCAGAGAAAACACCATGCCCACTAAAAGTGGTTTTTTAAAAAAATGAATTATCAACATAGTATCAAAATTTCGGGCAAGATTATAGGTCTTACACTTCAAGACACTAACCTCTACTATGACATATTAGAATCCTGCACAACCAATCCAGAATAAAGCATTGAGTCATACAACATAATTTTTTTTTCTTTTTGTCAGCAATTTCTTGATCTCCTGGCAGGGGATGAAGAAGAACATGCAGTACTATTGTGTAATTACTTTCTGTCTCTGGGTAAGAAGGCCTGGCTGTTGATGGGCAATGCTATTCCTGAGGTAAGACCACATAGGCTGCCTTTAACAGAGGAGTATAGTTGTCTAATCGAGTTGTGTGTTCCAGATCACACACAGGACATATTTTCATAACGATCCTTTGGGTTGCTAGGAAAGTGGCCCACAGATGCCGTAACGGGCAGAGAGAACTACCAGTGATAAGACATGAAATGGTTTTCAGTGGTCCTCAGGGCCCCATGCAACACTTCAGATTATTTTTTGGCAAACCCGAACCCTTTACCATCCAAAGCCCCCACCTAGCTCTGTCCTTTTAGTATGGGCCTCTTCCCAGCCATGTTCCCAAGAATTCAGATTCCCTTAATGATGTGGTAGTCTTCATGCTTTGCAATGAAGAGGATCCAAAGGAGTGTGTGTGGTAAGGTTAGAGATCTCTCCTTTCATGCCTACTGCTTCTATAGGTATCTGCTGCTAGCCTGGCATGCAAAGGGGAATAAGCCAGATAAGGAGGAATGAAAAGAACGTTAGCAGCTTTATTTTTATATTAACATTGTTATTTTTATTAGATTGGAGACTATTAGAATTTTTCCCTAGCCCACTACAAATATCCCTACATTTGTGATGCAAATAGGTAAGTTTAGAAAATTCACATACATTAGAGCAGTTTATCCAAAGAGGCCACAAGGCTCTAGGAATCCTTGGAAATTCGATAGCATGAGTTGCTGCAAGGCAGGTAATAAAGTAGTATCATATTCATATTCAAATTCATTCTCCATCATTATCTCCCAGATAGTCTGGTCCCAATAAAAGAACACTGGGCTTGGAAGTTATAAGGCTGAAGTTCAAGGTTCTGTGCCCACTCCTCATTAGCTGTGTGACACTAAGTAGGTCACTCCACAACTCTGGGTTTTATAGAAAAGTGGGATAATTTCTGCCCCGCCTTCCCCAGAAAACTGTTGTGAGCATCAAGTGAAATCATACAGGGGGAATAAATGATAACAATAATAAATAAATAATAATTTAAATAAATAATAAAAAAATTCTCATTGTAAAAATAGAACCTAACAATACGTAAGTATTCTGTGTAAAAAGTAGAAGTCCCTTGTCAGAAGATCCAGAATACCTTGACAAGGGACTTCTACTTCCCCAACCCCCAATTCCACTCCCCTCCCCAGGTACAGTCATTCTTAACTGTTTGGTACATATCCTTCCAAATCTACTATGCATTTACATAGTTACAAATGTTTATCAAATATAAATTACTATATTAGAAATAGAAATATTTCTATTCAAACATAATCAGCCTTCTATAGACTTAAATGGCAGTCTTACTGACTCTAAGAAGAAAACGCCAGTGACTGCTTATTTCCACTAATAATAGTTCTTCAGCCAATCTTAAGATATACTGGTTGAGTAAGATGATGACTGTCCTTTTTTGGTCATTGTACTAGTATCAGATGCAAGAATTTTGCAAAACTAAGCATTCGACTTTACTTTTTAAATTCAGCATAACCTAGAACTTCAAAGTAGTTTTCACCATTAACCATGAAATTTCAGAAATTAAGGGTCCAAGTAAAATAATGAATTGTCTGTGCAAACTACTATTGGCCTTCACTGCATAAATAGTTGAAAACTAGTTTTAATGGCCATCTTCTTTCAGGGTCCAACTGCCTATGTGCTAACTTGGGAGCAAGGTCGTTATTTAATATGGAATCCCTGCAGTGGACATTTTTATGGACAATTTGATACATTCTGTCCCTTGAAAAATGTGGGCTGTTTAATAGGTCCTGACAATGTAAGTATTAACATTTCTTCTTAAATATGGTTAGCTGTCGTTTCTTTTAAATAACTGACCTATTGATTTAAATATTTTATGTAACCAAAATATTTATATAAATGAATATATATATATATACACACATATATATATACCAGTTAAAAGAAATGCAGTGTCAAGCACAGTGGCGGAACTGTGCTAAATACAACTTTTGGTTCAATTAGTCACCTGACCTGCCCGAGAAGCAGAATGACAAAGCAGAATAACAAAGGAATACAGGATTTAGATTCAGAGGACCTGAGTTTGTGTCCTGG | TTATATCAGAAAGTAAAGTAGTGCGAAATGAAAGAAAATTAAAAAAGACTTGTCAAAGGGACACAGTTTCTTCATCTGTAAAGAATGGGTAATAACAATAACCTTCCATATAGGATGTTTGGTGAGGATGGAGATATTAATACAATATTTAGTGAGCATTAGTTTCATTTTGTACATGTAAATGTTTGTAATATTTGAGATTTAAGAAATGAGGTAGGGGATGCAGCATTCTGTTTTATTATAAATTATTTTTGTAAAGCTCATTTTGATTATACAGGAACTGGTGGCTCGATATGTGTCCTTGATTCCCTTCTTGCCTGACACTGTCTCATTTGGTGGTATCTGTGACCTCTGGAGCACATCTGATGTAAGTAGTTCTTCTTCACAGATTTAGAAACTTGAGCTGACTTAATGAAATATTAGCTAACTGACTTGCATAATTTTAAATTGCAACATTCATTAGCCATAAAAATCTAATTGGCTGTTTAGTAATATGAGCTAAATTTTGAAGTATTTTTTCTTCCTGGTTCAATTTTCTCAAGGTTCAGAAGTTAACAAAAAATTAATTACACAAAAAATTTAAAAGTAACACTTCAGATGTCTTAATGCTGATTTACCCTCCCAGTATTACTGTAAAACTTCTTGGTTTTGTTCATGAAAAATACCAAAATTACATTCTATATTATAATTAGAAATGATATATTCCTTAATTTGTGGGCTTTGTAAGGCATGGCAAATTATTATTTATTCAGTATGTACTTCTTGGTCACTTACCACATACCAGATGCTGTACTAAATTCTGGCTATAAATGAAATAAACATAGTCTCTGCCCTCATGGAATTTACAATCTATGTATGCTGCATAATCTCTCAAATATATCATAGGTAGTATGAAACAAGCATATATTATCACAGGTATTAATTCTACTTCTGGATCTCATGTTGTACTGCTTTTGCATAAAACTGAACTGTATTATACAACTTCCTTTGAAGTATAGCCCTAAATTGAAGAAATTTAAGTGCACTTTAAATTTTTTGTTCCCCAATACATTTTGGCAACATAAATGTTGACAATTTTAGAGATAAAATTTCTACAACTTTGAGACATCTATAAGAAGTTACTGAAAGACTAGAATTTGTGTACTCTAGAGCAGCAGTCCCCTTTTGGCATCAGGGACTAGTTTTGTAGAATACAATTTTTCCATGGATCAGTCAGAGGTGGAGTCAGGGATGGTTTCGGAATGAAACTGTTTCACCTCAGATCATCAGGCATTAGATTCTCATAAGGCCTGCACGACCTGGATTCCTTGCATGTGCAATTCATAATAGGGTTTGCACTCCTATGAGAATCTAATGCCCCCACTGATGTGACAAGAGGCAGAGCTCACGTGGTAATGCTTGTTCACCTGCTACTCACCTCCTGCTGTGCAGCCTAGTTCCTAACAGGCCACAGACTGGCACTAGTCCACAGCTGGGGGACTGGGGACCCTTGCTCTAGAGCTAGACTGGCTTTACTACTTCCTAAGTGTTACCTTATTAATCTGTACCTCAACTTGCTCATCTGTAAAATATGCAAATTGTTCTAGAATTAAGTAAGTTTAATGAAGTAATGTGCTTTAAAGATCGTTTAGCACATGAACTATATATACATTAAAAATAAAAACGAAACTTTGAAATTTTTCTCCCCGACCCTACCACAATCATAGTGAGTATTGATTCTAGAAATCCACATCATCAATGTCAGAGAAAACACCATGCCCACTAAAAGTGGTTTTTTAAAAAAATGAATTATCAACATAGTATCAAAATTTCGGGCAAGATTATAGGTCTTACACTTCAAGACACTAACCTCTACTATGACATATTAGAATCCTGCACAACCAATCCAGAATAAAGCATTGAGTCATACAACATAATTTTTTTTTCTTTTTGTCAGCAATTTCTTGATCTCCTGGCAGGGGATGAAGAAGAACATGCAGTACTATTGTGTAATTACTTTCTGTCTCTGGGTAAGAAGGCCTGGCTGTTGATGGGCAATGCTATTCCTGAGTAAGACCACATAGGCTGCCTTTAACAGAGGAGTATAGTTGTCTAATCGAGTTGTGTGTTCCAGATCACACACAGGACATATTTTCATAACGATCCTTTGGGTTGCTAGGAAAGTGGCCCACAGATGCCGTAACGGGCAGAGAGAACTACCAGTGATAAGACATGAAATGGTTTTCAGTGGTCCTCAGGGCCCCATGCAACACTTCAGATTATTTTTTGGCAAACCCGAACCCTTTACCATCCAAAGCCCCCACCTAGCTCTGTCCTTTTAGTATGGGCCTCTTCCCAGCCATGTTCCCAAGAATTCAGATTCCCTTAATGATGTGGTAGTCTTCATGCTTTGCAATGAAGAGGATCCAAAGGAGTGTGTGTGGTAAGGTTAGAGATCTCTCCTTTCATGCCTACTGCTTCTATAGGTATCTGCTGCTAGCCTGGCATGCAAAGGGGAATAAGCCAGATAAGGAGGAATGAAAAGAACGTTAGCAGCTTTATTTTTATATTAACATTGTTATTTTTATTAGATTGGAGACTATTAGAATTTTTCCCTAGCCCACTACAAATATCCCTACATTTGTGATGCAAATAGGTAAGTTTAGAAAATTCACATACATTAGAGCAGTTTATCCAAAGAGGCCACAAGGCTCTAGGAATCCTTGGAAATTCGATAGCATGAGTTGCTGCAAGGCAGGTAATAAAGTAGTATCATATTCATATTCAAATTCATTCTCCATCATTATCTCCCAGATAGTCTGGTCCCAATAAAAGAACACTGGGCTTGGAAGTTATAAGGCTGAAGTTCAAGGTTCTGTGCCCACTCCTCATTAGCTGTGTGACACTAAGTAGGTCACTCCACAACTCTGGGTTTTATAGAAAAGTGGGATAATTTCTGCCCCGCCTTCCCCAGAAAACTGTTGTGAGCATCAAGTGAAATCATACAGGGGGAATAAATGATAACAATAATAAATAAATAATAATTTAAATAAATAATAAAAAAATTCTCATTGTAAAAATAGAACCTAACAATACGTAAGTATTCTGTGTAAAAAGTAGAAGTCCCTTGTCAGAAGATCCAGAATACCTTGACAAGGGACTTCTACTTCCCCAACCCCCAATTCCACTCCCCTCCCCAGGTACAGTCATTCTTAACTGTTTGGTACATATCCTTCCAAATCTACTATGCATTTACATAGTTACAAATGTTTATCAAATATAAATTACTATATTAGAAATAGAAATATTTCTATTCAAACATAATCAGCCTTCTATAGACTTAAATGGCAGTCTTACTGACTCTAAGAAGAAAACGCCAGTGACTGCTTATTTCCACTAATAATAGTTCTTCAGCCAATCTTAAGATATACTGGTTGAGTAAGATGATGACTGTCCTTTTTTGGTCATTGTACTAGTATCAGATGCAAGAATTTTGCAAAACTAAGCATTCGACTTTACTTTTTAAATTCAGCATAACCTAGAACTTCAAAGTAGTTTTCACCATTAACCATGAAATTTCAGAAATTAAGGGTCCAAGTAAAATAATGAATTGTCTGTGCAAACTACTATTGGCCTTCACTGCATAAATAGTTGAAAACTAGTTTTAATGGCCATCTTCTTTCAGGGTCCAACTGCCTATGTGCTAACTTGGGAGCAAGGTCGTTATTTAATATGGAATCCCTGCAGTGGACATTTTTATGGACAATTTGATACATTCTGTCCCTTGAAAAATGTGGGCTGTTTAATAGGTCCTGACAATGTAAGTATTAACATTTCTTCTTAAATATGGTTAGCTGTCGTTTCTTTTAAATAACTGACCTATTGATTTAAATATTTTATGTAACCAAAATATTTATATAAATGAATATATATATATATACACACATATATATATACCAGTTAAAAGAAATGCAGTGTCAAGCACAGTGGCGGAACTGTGCTAAATACAACTTTTGGTTCAATTAGTCACCTGACCTGCCCGAGAAGCAGAATGACAAAGCAGAATAACAAAGGAATACAGGATTTAGATTCAGAGGACCTGAGTTTGTGTCCTGGN | pathogenic | 80,617 |
Chromosome 4, position 15589619, gene CC2D2A (coiled-coil and C2 domain containing 2A): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_aplasia_of_the_vermis', 'Inborn_genetic_diseases', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome'] | CTACCACAATCATAGTGAGTATTGATTCTAGAAATCCACATCATCAATGTCAGAGAAAACACCATGCCCACTAAAAGTGGTTTTTTAAAAAAATGAATTATCAACATAGTATCAAAATTTCGGGCAAGATTATAGGTCTTACACTTCAAGACACTAACCTCTACTATGACATATTAGAATCCTGCACAACCAATCCAGAATAAAGCATTGAGTCATACAACATAATTTTTTTTTCTTTTTGTCAGCAATTTCTTGATCTCCTGGCAGGGGATGAAGAAGAACATGCAGTACTATTGTGTAATTACTTTCTGTCTCTGGGTAAGAAGGCCTGGCTGTTGATGGGCAATGCTATTCCTGAGGTAAGACCACATAGGCTGCCTTTAACAGAGGAGTATAGTTGTCTAATCGAGTTGTGTGTTCCAGATCACACACAGGACATATTTTCATAACGATCCTTTGGGTTGCTAGGAAAGTGGCCCACAGATGCCGTAACGGGCAGAGAGAACTACCAGTGATAAGACATGAAATGGTTTTCAGTGGTCCTCAGGGCCCCATGCAACACTTCAGATTATTTTTTGGCAAACCCGAACCCTTTACCATCCAAAGCCCCCACCTAGCTCTGTCCTTTTAGTATGGGCCTCTTCCCAGCCATGTTCCCAAGAATTCAGATTCCCTTAATGATGTGGTAGTCTTCATGCTTTGCAATGAAGAGGATCCAAAGGAGTGTGTGTGGTAAGGTTAGAGATCTCTCCTTTCATGCCTACTGCTTCTATAGGTATCTGCTGCTAGCCTGGCATGCAAAGGGGAATAAGCCAGATAAGGAGGAATGAAAAGAACGTTAGCAGCTTTATTTTTATATTAACATTGTTATTTTTATTAGATTGGAGACTATTAGAATTTTTCCCTAGCCCACTACAAATATCCCTACATTTGTGATGCAAATAGGTAAGTTTAGAAAATTCACATACATTAGAGCAGTTTATCCAAAGAGGCCACAAGGCTCTAGGAATCCTTGGAAATTCGATAGCATGAGTTGCTGCAAGGCAGGTAATAAAGTAGTATCATATTCATATTCAAATTCATTCTCCATCATTATCTCCCAGATAGTCTGGTCCCAATAAAAGAACACTGGGCTTGGAAGTTATAAGGCTGAAGTTCAAGGTTCTGTGCCCACTCCTCATTAGCTGTGTGACACTAAGTAGGTCACTCCACAACTCTGGGTTTTATAGAAAAGTGGGATAATTTCTGCCCCGCCTTCCCCAGAAAACTGTTGTGAGCATCAAGTGAAATCATACAGGGGGAATAAATGATAACAATAATAAATAAATAATAATTTAAATAAATAATAAAAAAATTCTCATTGTAAAAATAGAACCTAACAATACGTAAGTATTCTGTGTAAAAAGTAGAAGTCCCTTGTCAGAAGATCCAGAATACCTTGACAAGGGACTTCTACTTCCCCAACCCCCAATTCCACTCCCCTCCCCAGGTACAGTCATTCTTAACTGTTTGGTACATATCCTTCCAAATCTACTATGCATTTACATAGTTACAAATGTTTATCAAATATAAATTACTATATTAGAAATAGAAATATTTCTATTCAAACATAATCAGCCTTCTATAGACTTAAATGGCAGTCTTACTGACTCTAAGAAGAAAACGCCAGTGACTGCTTATTTCCACTAATAATAGTTCTTCAGCCAATCTTAAGATATACTGGTTGAGTAAGATGATGACTGTCCTTTTTTGGTCATTGTACTAGTATCAGATGCAAGAATTTTGCAAAACTAAGCATTCGACTTTACTTTTTAAATTCAGCATAACCTAGAACTTCAAAGTAGTTTTCACCATTAACCATGAAATTTCAGAAATTAAGGGTCCAAGTAAAATAATGAATTGTCTGTGCAAACTACTATTGGCCTTCACTGCATAAATAGTTGAAAACTAGTTTTAATGGCCATCTTCTTTCAGGGTCCAACTGCCTATGTGCTAACTTGGGAGCAAGGTCGTTATTTAATATGGAATCCCTGCAGTGGACATTTTTATGGACAATTTGATACATTCTGTCCCTTGAAAAATGTGGGCTGTTTAATAGGTCCTGACAATGTAAGTATTAACATTTCTTCTTAAATATGGTTAGCTGTCGTTTCTTTTAAATAACTGACCTATTGATTTAAATATTTTATGTAACCAAAATATTTATATAAATGAATATATATATATATACACACATATATATATACCAGTTAAAAGAAATGCAGTGTCAAGCACAGTGGCGGAACTGTGCTAAATACAACTTTTGGTTCAATTAGTCACCTGACCTGCCCGAGAAGCAGAATGACAAAGCAGAATAACAAAGGAATACAGGATTTAGATTCAGAGGACCTGAGTTTGTGTCCTGGGTCTGTCCTTAGTTTTCTCATCCAAAATAGAGTTTACAATTTCTAATTCGTAGTGTTTTAAGAACTGAGGCAAATTTGTCACCTGAACAGATTGGGTTTCTCTGTCTCTTTCTCTCTTTCTTTTTTCAAAGGAGATTCCCAGGTCTCACCTGGCCTGCAATATCCCCAGGTAATTCTAGTTGCGCCAGTTTTGAGGGCTGCATGATTTTATTGTGAAGGGTACTAAATAAAGTAGTGGTTAAAAATATAAGTTATAGAGCTGGGCGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGGTCACCTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCTGGGCATGATGGTGTGACTCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAACGAGCTGAGATGGAGCCACTGCATTCCATCCTGGGCAACAGAGCAAGACTCCATCTCAAAGAAAAATGAGTTATGCGATCAGACTGCCTCAGTTTAAACTCCAATTTTATCATTTACTAGTTGTGTGGGCTTGGGAAAGTCAATCTCTCACAGCTTCAGCTTCTTCGCTGGTAAAATGGAGGTAACAGTAAAGTCACTACTTTATAGAATAGTTGTGAGAAGTGAATGAGATTATTAATGTTAAGCACCTAACAGAGTAACAACTCTTTAATTATTTTTTTAATTATTATTTTTCTTTTGAGATAGTTTCGCTCTGTCGCCTAGGCTGGAGTCCAGTGGTGCCATCTCAGCTCACTGCAATCTCCACATCCTGCGTTCATGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATCACAGGCACGTGCCACCTTGCCTGGCTAATTTAGTAAGAGATGAGGTCTCACCATATTGACTAGGCTCATCTCCAACTCCTGGCCTCAAGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGCGAGCCACCACACCCAGCAAATTATTGAATGATTGTTTTTATGTGCTTCTGTCTATAAAAACTGTTTGCACATGCATCCCCAACATGCATATTTTTATGAATTATATATATTTTCGTATCAATATACCAAAAACTACTTTAAACATGAAATCTATTTTTTTTCTTCCCATCCTCCTGGGGTATGGACCCTTCTCTGAAGACCATCAGTCTATTTTTTTTTTTTTTTTTGAGACGGACTTTCACTCTTGTTGCCCAGGCTGGAGTGCAACGGAGCGATCTCGGCTCAACGCAACCTCCGTCTCTCGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAGCTCCCGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCCATCAACCTATTTTTTTTAAGCATTACTGCTAAAATTAGAGATAATATATGCCAAGCACGCAGCAAAATATCTGTCCTTCATGTGTTCAGCAAATAGCAACTACAGCACTATTAATTACATATGTAAAGAGCACTGTGGAACACCAT | CTACCACAATCATAGTGAGTATTGATTCTAGAAATCCACATCATCAATGTCAGAGAAAACACCATGCCCACTAAAAGTGGTTTTTTAAAAAAATGAATTATCAACATAGTATCAAAATTTCGGGCAAGATTATAGGTCTTACACTTCAAGACACTAACCTCTACTATGACATATTAGAATCCTGCACAACCAATCCAGAATAAAGCATTGAGTCATACAACATAATTTTTTTTTCTTTTTGTCAGCAATTTCTTGATCTCCTGGCAGGGGATGAAGAAGAACATGCAGTACTATTGTGTAATTACTTTCTGTCTCTGGGTAAGAAGGCCTGGCTGTTGATGGGCAATGCTATTCCTGAGGTAAGACCACATAGGCTGCCTTTAACAGAGGAGTATAGTTGTCTAATCGAGTTGTGTGTTCCAGATCACACACAGGACATATTTTCATAACGATCCTTTGGGTTGCTAGGAAAGTGGCCCACAGATGCCGTAACGGGCAGAGAGAACTACCAGTGATAAGACATGAAATGGTTTTCAGTGGTCCTCAGGGCCCCATGCAACACTTCAGATTATTTTTTGGCAAACCCGAACCCTTTACCATCCAAAGCCCCCACCTAGCTCTGTCCTTTTAGTATGGGCCTCTTCCCAGCCATGTTCCCAAGAATTCAGATTCCCTTAATGATGTGGTAGTCTTCATGCTTTGCAATGAAGAGGATCCAAAGGAGTGTGTGTGGTAAGGTTAGAGATCTCTCCTTTCATGCCTACTGCTTCTATAGGTATCTGCTGCTAGCCTGGCATGCAAAGGGGAATAAGCCAGATAAGGAGGAATGAAAAGAACGTTAGCAGCTTTATTTTTATATTAACATTGTTATTTTTATTAGATTGGAGACTATTAGAATTTTTCCCTAGCCCACTACAAATATCCCTACATTTGTGATGCAAATAGGTAAGTTTAGAAAATTCACATACATTAGAGCAGTTTATCCAAAGAGGCCACAAGGCTCTAGGAATCCTTGGAAATTCGATAGCATGAGTTGCTGCAAGGCAGGTAATAAAGTAGTATCATATTCATATTCAAATTCATTCTCCATCATTATCTCCCAGATAGTCTGGTCCCAATAAAAGAACACTGGGCTTGGAAGTTATAAGGCTGAAGTTCAAGGTTCTGTGCCCACTCCTCATTAGCTGTGTGACACTAAGTAGGTCACTCCACAACTCTGGGTTTTATAGAAAAGTGGGATAATTTCTGCCCCGCCTTCCCCAGAAAACTGTTGTGAGCATCAAGTGAAATCATACAGGGGGAATAAATGATAACAATAATAAATAAATAATAATTTAAATAAATAATAAAAAAATTCTCATTGTAAAAATAGAACCTAACAATACGTAAGTATTCTGTGTAAAAAGTAGAAGTCCCTTGTCAGAAGATCCAGAATACCTTGACAAGGGACTTCTACTTCCCCAACCCCCAATTCCACTCCCCTCCCCAGGTACAGTCATTCTTAACTGTTTGGTACATATCCTTCCAAATCTACTATGCATTTACATAGTTACAAATGTTTATCAAATATAAATTACTATATTAGAAATAGAAATATTTCTATTCAAACATAATCAGCCTTCTATAGACTTAAATGGCAGTCTTACTGACTCTAAGAAGAAAACGCCAGTGACTGCTTATTTCCACTAATAATAGTTCTTCAGCCAATCTTAAGATATACTGGTTGAGTAAGATGATGACTGTCCTTTTTTGGTCATTGTACTAGTATCAGATGCAAGAATTTTGCAAAACTAAGCATTCGACTTTACTTTTTAAATTCAGCATAACCTAGAACTTCAAAGTAGTTTTCACCATTAACCATGAAATTTCAGAAATTAAGGGTCCAAGTAAAATAATGAATTGTCTGTGCAAACTACTATTGGCCTTCACTGCATAAATAGTTGAAAACTAGTTTTAATGGCCATCTTCTTTCAGGGTCCAACTGCCTATGTGCTAACTTGGGAGCAAGGTCGTTATTTAATATGGAATCCCTGCAGTGGACATTTTTATGACAATTTGATACATTCTGTCCCTTGAAAAATGTGGGCTGTTTAATAGGTCCTGACAATGTAAGTATTAACATTTCTTCTTAAATATGGTTAGCTGTCGTTTCTTTTAAATAACTGACCTATTGATTTAAATATTTTATGTAACCAAAATATTTATATAAATGAATATATATATATATACACACATATATATATACCAGTTAAAAGAAATGCAGTGTCAAGCACAGTGGCGGAACTGTGCTAAATACAACTTTTGGTTCAATTAGTCACCTGACCTGCCCGAGAAGCAGAATGACAAAGCAGAATAACAAAGGAATACAGGATTTAGATTCAGAGGACCTGAGTTTGTGTCCTGGGTCTGTCCTTAGTTTTCTCATCCAAAATAGAGTTTACAATTTCTAATTCGTAGTGTTTTAAGAACTGAGGCAAATTTGTCACCTGAACAGATTGGGTTTCTCTGTCTCTTTCTCTCTTTCTTTTTTCAAAGGAGATTCCCAGGTCTCACCTGGCCTGCAATATCCCCAGGTAATTCTAGTTGCGCCAGTTTTGAGGGCTGCATGATTTTATTGTGAAGGGTACTAAATAAAGTAGTGGTTAAAAATATAAGTTATAGAGCTGGGCGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGGTCACCTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCTGGGCATGATGGTGTGACTCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAACGAGCTGAGATGGAGCCACTGCATTCCATCCTGGGCAACAGAGCAAGACTCCATCTCAAAGAAAAATGAGTTATGCGATCAGACTGCCTCAGTTTAAACTCCAATTTTATCATTTACTAGTTGTGTGGGCTTGGGAAAGTCAATCTCTCACAGCTTCAGCTTCTTCGCTGGTAAAATGGAGGTAACAGTAAAGTCACTACTTTATAGAATAGTTGTGAGAAGTGAATGAGATTATTAATGTTAAGCACCTAACAGAGTAACAACTCTTTAATTATTTTTTTAATTATTATTTTTCTTTTGAGATAGTTTCGCTCTGTCGCCTAGGCTGGAGTCCAGTGGTGCCATCTCAGCTCACTGCAATCTCCACATCCTGCGTTCATGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATCACAGGCACGTGCCACCTTGCCTGGCTAATTTAGTAAGAGATGAGGTCTCACCATATTGACTAGGCTCATCTCCAACTCCTGGCCTCAAGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGCGAGCCACCACACCCAGCAAATTATTGAATGATTGTTTTTATGTGCTTCTGTCTATAAAAACTGTTTGCACATGCATCCCCAACATGCATATTTTTATGAATTATATATATTTTCGTATCAATATACCAAAAACTACTTTAAACATGAAATCTATTTTTTTTCTTCCCATCCTCCTGGGGTATGGACCCTTCTCTGAAGACCATCAGTCTATTTTTTTTTTTTTTTTTGAGACGGACTTTCACTCTTGTTGCCCAGGCTGGAGTGCAACGGAGCGATCTCGGCTCAACGCAACCTCCGTCTCTCGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAGCTCCCGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCCATCAACCTATTTTTTTTAAGCATTACTGCTAAAATTAGAGATAATATATGCCAAGCACGCAGCAAAATATCTGTCCTTCATGTGTTCAGCAAATAGCAACTACAGCACTATTAATTACATATGTAAAGAGCACTGTGGAACACCATN | pathogenic | 80,620 |
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