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 |
|---|---|---|---|---|---|
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 47346268, gene MYBPC3 (myosin binding protein C3): what disease(s) if pathogenic? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | CAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCA | CAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCATGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCAN | pathogenic | 175,874 |
Clinical significance of chromosome 11, position 47346268, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | CAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCA | CAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCANNNNNNNN | pathogenic | 175,875 |
Regarding the variant found on chromosome 11 at position 47346297 in gene MYBPC3 (myosin binding protein C3): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | CTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTC | CTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCN | pathogenic | 175,880 |
Determine whether the variant at chromosome 11, position 47346303, in gene MYBPC3 (myosin binding protein C3) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hypertrophic_cardiomyopathy'] | TTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGT | TTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAG | pathogenic | 175,883 |
Assess the variant on chromosome 11, position 47346368, impacting MYBPC3 (myosin binding protein C3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | CAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGC | CAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCNN | pathogenic | 175,894 |
Variant in gene MYBPC3 (myosin binding protein C3), located at chromosome 11 position 47346629: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hypertrophic_cardiomyopathy'] | TCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGG | TCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCAGTTGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAG | pathogenic | 175,905 |
The mutation impacting MYBPC3 (myosin binding protein C3) on chromosome 11 at position 47346638: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_10', 'MYBPC3-related_disorder', 'Primary_familial_hypertrophic_cardiomyopathy'] | ACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCAC | ACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACNN | pathogenic | 175,908 |
Evaluate this variant at chromosome 11, position 47347433, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | GCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCG | GCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGN | pathogenic | 175,917 |
A genetic alteration at chromosome 11, position 47347446, in gene MYBPC3 (myosin binding protein C3)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_10'] | CAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCC | CAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCN | pathogenic | 175,918 |
Is the genetic change at chromosome 11, position 47347463, within gene MYBPC3 (myosin binding protein C3) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | CCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGG | CCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGN | pathogenic | 175,920 |
Clinical significance of chromosome 11, position 47347645, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hypertrophic_cardiomyopathy'] | CCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCA | CCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGCCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCANNNNNNNNNNNNNNNNN | pathogenic | 175,930 |
Considering the variant on chromosome 11, location 47347668, involving gene MYBPC3 (myosin binding protein C3), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_10'] | CCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTG 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CCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGN | pathogenic | 175,932 |
A mutation at chromosome position 47347913 on chromosome 11 in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTG | GCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAG | benign | 175,944 |
Considering the variant on chromosome 11, location 47348490, involving gene MYBPC3 (myosin binding protein C3), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | GACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGG | GACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCCACCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGG | benign | 175,957 |
Variant chromosome 11, position 47348494, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Disease(s)? | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | AAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGG | AAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGG | pathogenic | 175,959 |
Classify the chromosome 11 variant at position 47349790 affecting gene MYBPC3 (myosin binding protein C3) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hypertrophic_cardiomyopathy'] | CACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACC | CACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCNNNNNNNNNNN | pathogenic | 175,981 |
A mutation at chromosome position 47349841 on chromosome 11 in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hypertrophic_cardiomyopathy'] | GAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGC | GAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCTTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCN | pathogenic | 175,986 |
Evaluate the clinical significance of the mutation at chromosome 11, position 47349876 in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | TCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATC | TCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTAT | pathogenic | 175,995 |
Determine whether the variant at chromosome 11, position 47349929, in gene MYBPC3 (myosin binding protein C3) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGAT | TCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATN | benign | 176,002 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 47349931, gene MYBPC3 (myosin binding protein C3). What disease(s) is it linked to if pathogenic? | benign | CAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCT | CAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGAAAGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTN | benign | 176,003 |
Is the genetic change at chromosome 11, position 47349933, within gene MYBPC3 (myosin binding protein C3) benign or pathogenic? Name the disease(s) if pathogenic. | benign | GGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCT | GGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTN | benign | 176,004 |
Classify the chromosome 11 variant at position 47350006 affecting gene MYBPC3 (myosin binding protein C3) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCT | GAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTNNNNNNNN | pathogenic | 176,007 |
Does the chromosome 11 mutation at position 47350038 within gene MYBPC3 (myosin binding protein C3) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | ATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAG | ATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGN | pathogenic | 176,013 |
The genetic variant at chromosome 11, position 47350052, affecting gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hypertrophic_cardiomyopathy'] | CCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGT | CCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTG | pathogenic | 176,015 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 47350059, gene MYBPC3 (myosin binding protein C3). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_10'] | TGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCC | TGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCN | pathogenic | 176,017 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 47350062, gene MYBPC3 (myosin binding protein C3): what disease(s) if pathogenic? | pathogenic; ['Hypertrophic_cardiomyopathy'] | CCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCA | CCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCANN | pathogenic | 176,018 |
Variant in MYBPC3 (myosin binding protein C3), chromosome 11, position 47350065—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hypertrophic_cardiomyopathy'] | CATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACA | CATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCTCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACAN | pathogenic | 176,019 |
Gene MYBPC3 (myosin binding protein C3) variant at chromosome 11, position 47350068—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | GAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGG | GAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGN | pathogenic | 176,020 |
The mutation impacting MYBPC3 (myosin binding protein C3) on chromosome 11 at position 47350082: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Primary_familial_hypertrophic_cardiomyopathy'] | GCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTAC | GCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTA | pathogenic | 176,024 |
Evaluate this variant at chromosome 11, position 47350086, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | CAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGC | CAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCNN | pathogenic | 176,025 |
The chromosome 11, position 47350502 genetic variant in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | CAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCC | CAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCC | pathogenic | 176,032 |
Variant at chromosome position 47350533, chromosome 11, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCC | GTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCNN | pathogenic | 176,036 |
Variant at chromosome 11, position 47350545, gene MYBPC3 (myosin binding protein C3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCAC | GAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACN | pathogenic | 176,040 |
Clinical significance of chromosome 11, position 47350550, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Primary_familial_hypertrophic_cardiomyopathy'] | CAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTA | CAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAN | pathogenic | 176,041 |
The genetic variant at chromosome 11, position 47350555, affecting gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | TGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCC | TGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCNN | pathogenic | 176,042 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 47350557, gene MYBPC3 (myosin binding protein C3). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAA | GGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAAN | pathogenic | 176,043 |
Variant at chromosome 11, position 47350573, gene MYBPC3 (myosin binding protein C3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | AGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCT | AGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAG | pathogenic | 176,046 |
Is chromosome 11, position 47350583, gene MYBPC3 (myosin binding protein C3) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hypertrophic_cardiomyopathy'] | GATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTC | GATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCN | pathogenic | 176,049 |
Considering the genetic mutation at chromosome 11, position 47350594, impacting MYBPC3 (myosin binding protein C3): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hypertrophic_cardiomyopathy'] | GTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTC | GTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCN | pathogenic | 176,051 |
Is the genetic variant on chromosome 11, position 47350597, gene MYBPC3 (myosin binding protein C3), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | CATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGG | CATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCACATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGN | pathogenic | 176,052 |
Classify the chromosome 11 variant at position 47350599 affecting gene MYBPC3 (myosin binding protein C3) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | TGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCA | TGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCANNNNNNNNNN | pathogenic | 176,053 |
Benign or pathogenic: chromosome 11, position 47350609, gene MYBPC3 (myosin binding protein C3) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGA | GGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAG | pathogenic | 176,054 |
The chromosome 11, position 47351254 genetic variant in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | AGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCT | AGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTNN | pathogenic | 176,062 |
Variant in MYBPC3 (myosin binding protein C3), chromosome 11, position 47351268—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAA | GGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAANNNNNNNNNNN | pathogenic | 176,064 |
For chromosome 11, position 47351293, gene MYBPC3 (myosin binding protein C3): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hypertrophic_cardiomyopathy'] | ACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAAATAA | ACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAAATAAN | pathogenic | 176,066 |
Mutation found at chromosome 11 position 47351294, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype'] | CACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAAATAAA | CACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAAATAA | pathogenic | 176,068 |
The mutation in gene MYBPC3 (myosin binding protein C3) at chromosome 11, position 47351307—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiomyopathy'] | GGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAAATAAAAAATAAAATAAAT | GGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAAATAAAAAATAAAATAAA | pathogenic | 176,073 |
A genetic variant on chromosome 11, position 47351310, affects the gene MYBPC3 (myosin binding protein C3). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hypertrophic_cardiomyopathy', 'Primary_familial_hypertrophic_cardiomyopathy'] | TTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAAATAAAAAATAAAATAAATACA | TTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGAACAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAAATAAAAAATAAAATAAATAC | pathogenic | 176,075 |
Does the genetic variant at chromosome 11, position 47351315, impacting gene MYBPC3 (myosin binding protein C3), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy', 'MYBPC3-related_disorder'] | GTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAAATAAAAAATAAAATAAATACACACAC | GTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAAATAAAAAATAAAATAAATACACAC | pathogenic | 176,076 |
The genetic variant at chromosome 11, position 47351343, affecting gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Arrhythmogenic_right_ventricular_cardiomyopathy', 'Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_10', 'Primary_familial_hypertrophic_cardiomyopathy'] | GAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAAATAAAAAATAAAATAAATACACACACACACACAAATTAGCCAGGTGTGGTGGTG | GAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAAATAAAAAATAAAATAAATACACACACACACACAAATTAGCCAGGTGTGGTGGTGNNNNNNNNNNN | pathogenic | 176,080 |
Evaluate the clinical significance of the mutation at chromosome 11, position 47351348 in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hypertrophic_cardiomyopathy'] | GCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAAATAAAAAATAAAATAAATACACACACACACACAAATTAGCCAGGTGTGGTGGTGTGGAC | GCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAAATAAAAAATAAAATAAATACACACACACACACAAATTAGCCAGGTGTGGTGGTGTGGACN | pathogenic | 176,081 |
Variant chromosome 11, position 47351358, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Disease(s)? | pathogenic; ['Hypertrophic_cardiomyopathy'] | CTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAAATAAAAAATAAAATAAATACACACACACACACAAATTAGCCAGGTGTGGTGGTGTGGACCTGTAGTATC | CTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAAATAAAAAATAAAATAAATACACACACACACACAAATTAGCCAGGTGTGGTGGTGTGGACCTGTAGTATCN | pathogenic | 176,083 |
The mutation in gene MYBPC3 (myosin binding protein C3) at chromosome 11, position 47351368—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy', 'MYBPC3-related_disorder'] | TTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAAATAAAAAATAAAATAAATACACACACACACACAAATTAGCCAGGTGTGGTGGTGTGGACCTGTAGTATCAGCTACCCAG | TTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTATTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAAATAAAAAATAAAATAAATACACACACACACACAAATTAGCCAGGTGTGGTGGTGTGGACCTGTAGTATCAGCTACCCAGN | pathogenic | 176,086 |
Gene MYBPC3 (myosin binding protein C3) variant at chromosome 11, position 47351419—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | TCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAAATAAAAAATAAAATAAATACACACACACACACAAATTAGCCAGGTGTGGTGGTGTGGACCTGTAGTATCAGCTACCCAGGAGGCTGAGGTGGGAGGATCGCTTGAGTCCAAGGAGTTCCGGGCTGCAGTG | TCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAAATAAAAAATAAAATAAATACACACACACACACAAATTAGCCAGGTGTGGTGGTGTGGACCTGTAGTATCAGCTACCCAGGAGGCTGAGGTGGGAGGATCGCTTGAGTCCAAGGAGTTCCGGGCTGCAGTGN | pathogenic | 176,091 |
Variant on chromosome 11, at position 47351431, affecting MYBPC3 (myosin binding protein C3): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | TTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAAATAAAAAATAAAATAAATACACACACACACACAAATTAGCCAGGTGTGGTGGTGTGGACCTGTAGTATCAGCTACCCAGGAGGCTGAGGTGGGAGGATCGCTTGAGTCCAAGGAGTTCCGGGCTGCAGTGAGCCAAAATCGC | TTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAAATAAAAAATAAAATAAATACACACACACACACAAATTAGCCAGGTGTGGTGGTGTGGACCTGTAGTATCAGCTACCCAGGAGGCTGAGGTGGGAGGATCGCTTGAGTCCAAGGAGTTCCGGGCTGCAGTGAGCCAAAATCGCNN | pathogenic | 176,094 |
Is the genetic change at chromosome 11, position 47351465, within gene MYBPC3 (myosin binding protein C3) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | AACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAAATAAAAAATAAAATAAATACACACACACACACAAATTAGCCAGGTGTGGTGGTGTGGACCTGTAGTATCAGCTACCCAGGAGGCTGAGGTGGGAGGATCGCTTGAGTCCAAGGAGTTCCGGGCTGCAGTGAGCCAAAATCGCACCACTGCACTGCAGCCTGGGTGACAGAGTGATA | AACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGCGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAAATAAAAAATAAAATAAATACACACACACACACAAATTAGCCAGGTGTGGTGGTGTGGACCTGTAGTATCAGCTACCCAGGAGGCTGAGGTGGGAGGATCGCTTGAGTCCAAGGAGTTCCGGGCTGCAGTGAGCCAAAATCGCACCACTGCACTGCAGCCTGGGTGACAGAGTGAT | pathogenic | 176,101 |
A genetic variant at chromosome 11, position 47351479, affecting gene MYBPC3 (myosin binding protein C3)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hypertrophic_cardiomyopathy', 'Left_ventricular_noncompaction_10'] | GTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAAATAAAAAATAAAATAAATACACACACACACACAAATTAGCCAGGTGTGGTGGTGTGGACCTGTAGTATCAGCTACCCAGGAGGCTGAGGTGGGAGGATCGCTTGAGTCCAAGGAGTTCCGGGCTGCAGTGAGCCAAAATCGCACCACTGCACTGCAGCCTGGGTGACAGAGTGATAATAATAATAAAAAT | GTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAAATAAAAAATAAAATAAATACACACACACACACAAATTAGCCAGGTGTGGTGGTGTGGACCTGTAGTATCAGCTACCCAGGAGGCTGAGGTGGGAGGATCGCTTGAGTCCAAGGAGTTCCGGGCTGCAGTGAGCCAAAATCGCACCACTGCACTGCAGCCTGGGTGACAGAGTGATAATAATAATAAAAA | pathogenic | 176,104 |
Variant chromosome 11, position 47414926, gene SLC39A13 (solute carrier family 39 member 13): benign or pathogenic? Disease(s)? | benign | CAGCCTCCCGAGTAGCTGGGACCACAGGTGCGCGCCACCATGCCCAGCTAACTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGTCCAGGATGGTCTCGATCTCTTGACTTCTTGATCCACCCACCTCAGCCTCCCAATTATTATTATTATTTTTTTGAGAAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTACAGCTTTCACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCATCTGCCTTGGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCCCGTCTCTCTTTCTCCATCTCTCTCCCCTTCTGTCTGCCCTGGCTGAGTGGGGGGCATCTAATGTCACCTCTCCCTCCTTCTCCTGGCCCTAGGCCCCCAACAAAGACCCCACTGCTGCTGCCGCCGCGCTCAATGGAGGCCACTGTCTGGCCCAGCCGGCTGCAGAGCCCGGCCTCGGTGCCGTGGTCCGGAGCATCAAAGTGAGTGGCCTGCTCAGGGCCCCTGCAGCCGTACTGCCCTGAGTGGCCAGCCCCACTCAGCCCTGCCTCCTGCCTTCCCTCCTTCCCAGGTCAGCGGCTACCTCAACCTGCTGGCCAACACCATCGATAACTTCACCCACGGGCTGGCTGTGGCTGCCAGCTTCCTTGTGAGCAAGAAGGTGAGGGGCTTGGGGCCAGTGGGGCTCTGGCGATTCCAGTGGCAGCCATGTGGATTCCACCTGTGTCTGGAGTCTCTGCTTCTTGCCCCTCCATTGCCAGCGCCCTCATCTAAGGCTCTCATCCCCCATCCTCCCTGCTGCTGTCCTGGCCGCCACTGTTCTCTGATCCTGAGCCCCTGGTCTGTTCCTGTTCCCAGTACTCCTTGTTGGGTGCCTCTGTCAAGCTGCTAGGCGTGGCCCCTGCCTGCTCCTAGATGCTTCTTCCTCTACCTCCTCCCTCTGGCCTCTGGCCTCTGGCCCAGAGGCAGCCTACTCTGCAGCTGGCCGAGATCTTTCCCACCTCACACTGTTCCCCCTGCCTGGAATGTTCTCCCGCCCACGCTTCGAGCGGCTGACGACTCATCCTTGGGGCCTCGACTTACATGGACTCCTCCACCAGGCCTTTGCTGACCTCCTCATCTAAATTTGGTTCCTGGGCCTGCTCCCCTGGGCACTCTATCCATCCTTTCCTTCCCAGCGCCTGTGAGTGTGTGAGTGAGTCCTGTCTCTCCCCTCTATACCGCTAGCTTCGTGAAGGCAGGTTCCTTGTCCCCTTTAGTCACTGCTGTATTTCCAGTGGCCAACACAGTGCCCACCCAGAGCCAGCTCAGAGCAGAGTAAACCTCTGTGGAATGAGTGGGCGAGTGGGGTGCTCAGCCCTCAACACAGACCCCGCAGCCACGGCTCCCCTCCCTGCAGATCGGGCTCCTGACAACCATGGCCATCCTCCTGCATGAGATCCCCCATGAGGTGAGCGCTTGTAGGGCAGCCCCCAGGGGCCCAGGCCCCCACAGTGCCCATGATCAGCATGGGTGTGGAGCTCAGGAGGGTGTGGGGCTGGGCCTGTCCAGCATGGCACTCTGGGGCTGGGCTGTGAGGGCTGGAGCTCCTCACCCCAGCAGCCTGCAGCTGCCATCTCTGCCATACTCAGGATGGGGGTCCCAGGGGAAGGGTGGGGAAGGGCAGGGGGCTCAGTGTGTATATCGTACCTGAGCACTCAGGGCATCAGGCCCCGCTGGGGCGCAGGGTGAACCTCTGGACCTCCCTTCAGGTGGGCGACTTTGCCATCCTGCTCCGGGCCGGCTTTGACCGATGGAGCGCAGCCAAGCTGCAACTCTCAACAGCGCTGGGGGGCCTACTGGGCGCTGGCTTCGCCATCTGTACCCAGTCCCCCAAGGGAGTAGGTACGGGCGTGGCGGGTGGTTGTGGCGGGTGGCATCAGCAGAGGGGCACCAGCCAAAGGGTGTGGCTACCGCACTGCTGGTCCCCAGGCCCGGGAGGTGGGGAGCACACACAGTGCCTTGGGTACCCAGTTGGGTGTTCTCCCGCTGCAGAGGAGACGGCAGCCTGGGTCCTGCCCTTCACCTCTGGCGGCTTTCTCTACATCGCCTTGGTGAACGTGCTCCCTGACCTCTTGGAAGAAGAGGACCCGTGGTGAGTGACCTGTTGGAGGAAGAGGACTGCCACTCACAGGGCCCTTAGGGGCTCAGGAGGGAAGGGCTCCTGGCCGCTGCCTGCTCCCCCTGCCCATGCCTCCACCGTGAGCCGTTCCCTCCCCACAGGCGCTCCCTGCAGCAGCTGCTTCTGCTCTGTGCGGGCATCGTGGTAATGGTGCTGTTCTCGCTCTTCGTGGATTAACTTTCCCTGATGCCGACGCCCCTGCCCCCTGCAGCAATAAGATGCTCGGATTCACTCTGTGACCGCATATGTGAGAGGCAGAGAGGGCGAGTGGCTGCGAGAGAGAATGAGCCTCCCGCCAGACAGGAGGGAGGTGCGTGTGGATGTATGTGGTGTGCACATGTGGCCAGAGGTGTGTGCGCGAGACCGACACTGTGATCCCTGTGCTGGGTCCGGGGCCCAGTGTAGCGCCTGTCCCCAGCCATGCTGTGGTTACCTCTCCTTGCCGCCCTGTCACCTTCACCTCCCGGAGTAAGCAGCGAGGAAGAGCAGCACTGGTCCCAAGCAGAGGCCTTGCCCTGCTGGGACCCCGGGAGTGAGAGCAGCCCAAGGATCCAGGGTGCAGGGAACTCCAGAGCTGCCCACCTCCCACTGCCCCCTCAGCACACACACAGTCCCCAGGCGGCCTAGGGGCCAAGGCTGGGGCGGCTTTGGTCCCTTTTCCTGGCCCTTCCTTCCCCACTTCTAAGCCAAAGAAAGGAGAGGCAGGTGCTCCTGTACCCCAGCCCCACTCAGCACTGACAGTCCCCAGCTCCTAGTAGTGAGCTGGGAGGCGCTTCCTAAGACCCTTTCCTCAGGGCTGCCCTGGGAGCTCATTCCTGGCCAACACGCCCTGGCAGCACCAGCAGCTCTTGCCACCTCCAGCTGCCAAACAGCAGCCTGCCGGGCAGGGAGCAGCCCCAGGCCAGAGAGGCCTCCCGGTCCAGCTCAGGGATGCTCCTGCCAGCACAGGGGCCAGGGACTCCTGGAGCAGGCACATAGTGAGCCCGGGCAGCCCTGCCCAGCTCAGGCCCCTTTCCTTCCCCATTGAGGTTGGGGTAGGTGGGGGCGGTGAGGGCTCCACGTTGTCAGCGCTCAGGAATGTGCTCCGGCAGAGTGCTGAAGCCATAATCCCCAACCATTTCCCTTGGCTGACGCCCAGGTACTCAGCTGGCCCACTCCACAGCCAGGCCTGGCCCTGCCCTTCACCGTGGATGTTTTCAGAAGTGGCCATCGAGAGGTCTGGATGGTTTTATAGCAACTTTGCTGTGATTCCGTTTGTATCTGTAAATATTTGTTCTATAGATAAGATACAAATAAATATTATCCACATACTGGCTGCCTTGGTTCTGCACGGCCTTCCATGGCCAGGCAGGGCCTTCCTTACTGCCACTGCCAGGCCCTTGTCTCTGAACTGTCACCCCAGTGCATCTCTGAACGTTCCATGTCTTCCTGGCTTAACTTTTTATTCCAATGACTGAGCACCTATATGAGCCTGGCCGTATGCCATTTTAGCCCCTCACCACCACAAACTCCAGGACGCTGTCCTTATCTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCACACTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAACCTCCCAAGTAGCTGGGATTTACAGGTGTGTGCCACCACGCCTGGCTTTTTTTTAAAAGTAGAGATAGGGTTTTGCCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCT | CAGCCTCCCGAGTAGCTGGGACCACAGGTGCGCGCCACCATGCCCAGCTAACTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGTCCAGGATGGTCTCGATCTCTTGACTTCTTGATCCACCCACCTCAGCCTCCCAATTATTATTATTATTTTTTTGAGAAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTACAGCTTTCACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCATCTGCCTTGGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCCCGTCTCTCTTTCTCCATCTCTCTCCCCTTCTGTCTGCCCTGGCTGAGTGGGGGGCATCTAATGTCACCTCTCCCTCCTTCTCCTGGCCCTAGGCCCCCAACAAAGACCCCACTGCTGCTGCCGCCGCGCTCAATGGAGGCCACTGTCTGGCCCAGCCGGCTGCAGAGCCCGGCCTCGGTGCCGTGGTCCGGAGCATCAAAGTGAGTGGCCTGCTCAGGGCCCCTGCAGCCGTACTGCCCTGAGTGGCCAGCCCCACTCAGCCCTGCCTCCTGCCTTCCCTCCTTCCCAGGTCAGCGGCTACCTCAACCTGCTGGCCAACACCATCGATAACTTCACCCACGGGCTGGCTGTGGCTGCCAGCTTCCTTGTGAGCAAGAAGGTGAGGGGCTTGGGGCCAGTGGGGCTCTGGCGATTCCAGTGGCAGCCATGTGGATTCCACCTGTGTCTGGAGTCTCTGCTTCTTGCCCCTCCATTGCCAGCGCCCTCATCTAAGGCTCTCATCCCCCATCCTCCCTGCTGCTGTCCTGGCCGCCACTGTTCTCTGATCCTGAGCCCCTGGTCTGTTCCTGTTCCCAGTACTCCTTGTTGGGTGCCTCTGTCAAGCTGCTAGGCGTGGCCCCTGCCTGCTCCTAGATGCTTCTTCCTCTACCTCCTCCCTCTGGCCTCTGGCCTCTGGCCCAGAGGCAGCCTACTCTGCAGCTGGCCGAGATCTTTCCCACCTCACACTGTTCCCCCTGCCTGGAATGTTCTCCCGCCCACGCTTCGAGCGGCTGACGACTCATCCTTGGGGCCTCGACTTACATGGACTCCTCCACCAGGCCTTTGCTGACCTCCTCATCTAAATTTGGTTCCTGGGCCTGCTCCCCTGGGCACTCTATCCATCCTTTCCTTCCCAGCGCCTGTGAGTGTGTGAGTGAGTCCTGTCTCTCCCCTCTATACCGCTAGCTTCGTGAAGGCAGGTTCCTTGTCCCCTTTAGTCACTGCTGTATTTCCAGTGGCCAACACAGTGCCCACCCAGAGCCAGCTCAGAGCAGAGTAAACCTCTGTGGAATGAGTGGGCGAGTGGGGTGCTCAGCCCTCAACACAGACCCCGCAGCCACGGCTCCCCTCCCTGCAGATCGGGCTCCTGACAACCATGGCCATCCTCCTGCATGAGATCCCCCATGAGGTGAGCGCTTGTAGGGCAGCCCCCAGGGGCCCAGGCCCCCACAGTGCCCATGATCAGCATGGGTGTGGAGCTCAGGAGGGTGTGGGGCTGGGCCTGTCCAGCATGGCACTCTGGGGCTGGGCTGTGAGGGCTGGAGCTCCTCACCCCAGCAGCCTGCAGCTGCCATCTCTGCCATACTCAGGATGGGGGTCCCAGGGGAAGGGTGGGGAAGGGCAGGGGGCTCAGTGTGTATATCGTACCTGAGCACTCAGGGCATCAGGCCCCGCTGGGGCGCAGGGTGAACCTCTGGACCTCCCTTCAGGTGGGCGACTTTGCCATCCTGCTCCGGGCCGGCTTTGACCGATGGAGCGCAGCCAAGCTGCAACTCTCAACAGCGCTGGGGGGCCTACTGGGCGCTGGCTTCGCCATCTGTACCCAGTCCCCCAAGGGAGTAGGTACGGGCGTGGCGGGTGGGTTGTGGCGGGTGGCATCAGCAGAGGGGCACCAGCCAAAGGGTGTGGCTACCGCACTGCTGGTCCCCAGGCCCGGGAGGTGGGGAGCACACACAGTGCCTTGGGTACCCAGTTGGGTGTTCTCCCGCTGCAGAGGAGACGGCAGCCTGGGTCCTGCCCTTCACCTCTGGCGGCTTTCTCTACATCGCCTTGGTGAACGTGCTCCCTGACCTCTTGGAAGAAGAGGACCCGTGGTGAGTGACCTGTTGGAGGAAGAGGACTGCCACTCACAGGGCCCTTAGGGGCTCAGGAGGGAAGGGCTCCTGGCCGCTGCCTGCTCCCCCTGCCCATGCCTCCACCGTGAGCCGTTCCCTCCCCACAGGCGCTCCCTGCAGCAGCTGCTTCTGCTCTGTGCGGGCATCGTGGTAATGGTGCTGTTCTCGCTCTTCGTGGATTAACTTTCCCTGATGCCGACGCCCCTGCCCCCTGCAGCAATAAGATGCTCGGATTCACTCTGTGACCGCATATGTGAGAGGCAGAGAGGGCGAGTGGCTGCGAGAGAGAATGAGCCTCCCGCCAGACAGGAGGGAGGTGCGTGTGGATGTATGTGGTGTGCACATGTGGCCAGAGGTGTGTGCGCGAGACCGACACTGTGATCCCTGTGCTGGGTCCGGGGCCCAGTGTAGCGCCTGTCCCCAGCCATGCTGTGGTTACCTCTCCTTGCCGCCCTGTCACCTTCACCTCCCGGAGTAAGCAGCGAGGAAGAGCAGCACTGGTCCCAAGCAGAGGCCTTGCCCTGCTGGGACCCCGGGAGTGAGAGCAGCCCAAGGATCCAGGGTGCAGGGAACTCCAGAGCTGCCCACCTCCCACTGCCCCCTCAGCACACACACAGTCCCCAGGCGGCCTAGGGGCCAAGGCTGGGGCGGCTTTGGTCCCTTTTCCTGGCCCTTCCTTCCCCACTTCTAAGCCAAAGAAAGGAGAGGCAGGTGCTCCTGTACCCCAGCCCCACTCAGCACTGACAGTCCCCAGCTCCTAGTAGTGAGCTGGGAGGCGCTTCCTAAGACCCTTTCCTCAGGGCTGCCCTGGGAGCTCATTCCTGGCCAACACGCCCTGGCAGCACCAGCAGCTCTTGCCACCTCCAGCTGCCAAACAGCAGCCTGCCGGGCAGGGAGCAGCCCCAGGCCAGAGAGGCCTCCCGGTCCAGCTCAGGGATGCTCCTGCCAGCACAGGGGCCAGGGACTCCTGGAGCAGGCACATAGTGAGCCCGGGCAGCCCTGCCCAGCTCAGGCCCCTTTCCTTCCCCATTGAGGTTGGGGTAGGTGGGGGCGGTGAGGGCTCCACGTTGTCAGCGCTCAGGAATGTGCTCCGGCAGAGTGCTGAAGCCATAATCCCCAACCATTTCCCTTGGCTGACGCCCAGGTACTCAGCTGGCCCACTCCACAGCCAGGCCTGGCCCTGCCCTTCACCGTGGATGTTTTCAGAAGTGGCCATCGAGAGGTCTGGATGGTTTTATAGCAACTTTGCTGTGATTCCGTTTGTATCTGTAAATATTTGTTCTATAGATAAGATACAAATAAATATTATCCACATACTGGCTGCCTTGGTTCTGCACGGCCTTCCATGGCCAGGCAGGGCCTTCCTTACTGCCACTGCCAGGCCCTTGTCTCTGAACTGTCACCCCAGTGCATCTCTGAACGTTCCATGTCTTCCTGGCTTAACTTTTTATTCCAATGACTGAGCACCTATATGAGCCTGGCCGTATGCCATTTTAGCCCCTCACCACCACAAACTCCAGGACGCTGTCCTTATCTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCACACTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAACCTCCCAAGTAGCTGGGATTTACAGGTGTGTGCCACCACGCCTGGCTTTTTTTTAAAAGTAGAGATAGGGTTTTGCCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGC | benign | 176,147 |
Does the genetic variant at chromosome 11, position 47438035, impacting gene RAPSN (receptor associated protein of the synapse), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Congenital_myasthenic_syndrome', 'Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_2'] | AACAACCCAACCCCATGTGTGGATTCTGTCCTCTCTCCACACAGGTTCTGACCTCTCACCCCAGGCCTTGCCCTGTGTGGACACTCTTCAGCCTGCTTAGATTCCAGTGCCTCACACCAGGTCACCCCTCCACACAGATGCTTGTCTTGCTCTGTCCCACTTAATGGTTTTAGAACTGGTTTAGGGAAGGGGGTGAACATGAGGAAGAGGGACCAGGCTCTACTCTTTTTTCTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCCCACCACAACTGCCACCTCCCAGGATCAAGCGATTCTCCTGCTTCAGCCTCCGGAGGAGCTGGGATTACAGGCGCCCACCACCGCGCCCAGCTAATGTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCTCCCCTCTGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCAGGCCTCTACTCTTATTTTTTTTTTTTTGAGACAGAGTATTGCTCTGTCCCCCAGGCTGAAGTGCAGTAGTATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGAGATTCTCCTGCTTCATCCTCCCGAGTAGCTGGGACTACAGGTGTGTGCCACCATGCTGACTAATTTTTGTATTTTTTTTTTTCTAGAGACAGGGTTTTGCCATGTTGTACAGGCTGGTCTTGAACTCCTGGGTTCAAGTGACCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGCAGGAACCACTGCACACAACCAGGCTCTACTCTTTATTGTTACAAAGAACTTATCACATTATATGAGCCTGCTAGGACTGTCATTAGGCAGGTGAGGCCTTTGGGAGGCAATTAGGTCATGAGGGTGGAGCCCTTATATATGGGATTAGTGCCCTTATTAAGGGACTGTGCCTGGCATGGTTGTTCTCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCTTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACTTGGAGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGCATGTTGATGCGTGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAGAAAAAAAAAAAAGGAATGCAGAGAACTTCCTTGTCCCTTCCACCATGCAAGAACACAGCAAGAAAACTCAATCTGTGAGCAAGAATGTGCGCCCTCACCAGACACCCAATCTGCAGGTGCCTTGATCTTGGACTTCCCAGCCTCCAGAACTGTGACATATCAATTCCTGTTGTTTACAAGCCACCCAGTCTGTTTCGTTACAACAGCCCAAACGGACTAAGCCTTCAACATGGGAATCTGGGGGGACACGATTCGTCTATAGCAGCTTCCCACCAGGCTTTCCAAACTGTGTGTTTCCTGTTTATCATATACCCTCCCACCCACTGCACGTCAGCTTCTCACTGCAGGGATCGTGTCTCTGTGGCATCCCAAGTTCCTGGAGGGGCTGCTGGAGGCCCTTGTACATATGTGCAGAGGAAACGCTTGCGTCTGAGGAAGCTCCTGTGGGGCGCCTCACTCCCACTCTCCCCACTCCTCAGACCTTGGGCATGGAAAGTCGGAATCCCTGGGACCAGGTACAAACAGTTTATTTTTCTATAAAGAGCAAAGTACAAAGAGGCAGGGAGGGGAGCTGGGCCCAGGGGAGCAGCCCTGGGCAGGCCCCAAGGCCTTGGCTATGGTGAGGACGACCTGGCAGCTGCCCCAGGAGTAAATGGGCCTCTGGCGTGCAGTGGAGAAAGAGCAGGAGTGGCGAGGAGGAAGCCCACGCCTGCTGCCAGGAGTCATACAAAGCCAGGCTTCATGGATGAGCGGCGGCAGTTGGGACAGCTCCGGGTCCCGTTGTTCTGCAGGCACCTGGGGAGGCAAAGGGCCCTGTCCACTCCCCTGAGGCCTGTCCTTCCCTCCGGGCCCTCTCTTCCTTCCTTGCCTGCCCTCTGCAGGGGCTGGGATGCATCCTGGTGGCTGTTCAGCAGCAGTGGAAGGGAAGGGAACGGTCCCCCCAGGCTCCCACTGCACCCGGCTTGCCCCTCTCCTCCTCTGCCCCAGGGACCTCCAGGGCAGAGCAGGGGCTGGGAGTTGAGAGGATGGGATGGAACCAGACCCACGGCAGGTCTGGCCCTGGACGTCCGACCTAATGACCTTTGAGGGGCCTCTCTGACTCCTCTTTGGGGATTATGAAAAGAATGGCCACAGATCTCAGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGGCTCCCACCACCATGCCTGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGATGATCTTGAACCCCGGGGCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTTGCGAGACAGACGTGAGGCACCACGCCTGGCCAAGGTTAAGTGTTTGCTATTAGTATTATTGCTGTGATTAAGCCAGCTGGGCCCTAGAGTGCCCCGAAGAGATCCTGCCCACCCCTGTCCACCCCCCCAGGAGCCCCCACCTGAGGTGGAAGATGTGGGAGCAAGGTAGGGCCTGCAGCCGGCTGTTCTTCTCGCCTATGGACTCGCCGCACAGGCCGCAGTAGAGCTCCGTCTCCTCCACGCACTCGTGGAACCTCACAACGTGCGCCCGCAGTTCCCGCTGCAGCCCTTTGCTGCGGTAAATGCTCTCGCTCAGACAGTGCAGCTTGAGCTGGCTCAGCTGGGGCCCGCAGGAGTGGAGAGCGCCAGTGGGGGATGAGAACAAAGTCAGTGCAGGTAGGCTCCGGTCTCAGCCACTTCCCTGTCTTGCTGATGGACCTTGGAAAAATGTCCTGCCCTCTCTGGGACCTTGCTTCCTTTCATGCAGAATGAGGCGGTGGGTGAGATCAGAAGACTTCACCCCCCAGAACTGCCTGGAGACCCCATGTTTTTGACAGATTTTATGACCAAACCTGGTGCACAGACTCCATAATAATTTGCGGCAGGGCGCCGTGGCTCATGCCTGTAATCCCAGCACTTGGGGAGGCCGAGGCAGGTGGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGTGAGTGCCTGTAATCCCTGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCGAAATCGCACCACTGCACTCCAGCCTGGGCTCTAATAGTGAAACTCCGTCTCAAAAAAAAATAATAATTAATCTGCTTTCCTGTTTTTATTAATTAAATATACACACAATAGCTCATCAGCATTTCTGATCAGCCTGATACCCAGGTAAACCAGAGTGGCTATAATCCAACCAAATTTTGGCATTTTGGTTGGACTGTGCACAGGATCTCGTAGAAATGCACATCTGGAAGGCTTTGAGAAGTGGTGAACCTGTTTTCAAGATTTTAAGGTTTTAATAAGATTATGACGATTTTTTTTTTTTTTTTTTTAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGTTCATGGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCGTGCACTACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGTCAGGCTGATCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAATGCAGGTGTGAGCCACCGCACCCGGCCTTGGTTTTGGTTTTTAGGCCATGCTAATCTTCTCTGTATTGTTCCAATTTCAGAATATGGGCTGCCAAAGCAAGCACTAGATACCATTATTAA | AACAACCCAACCCCATGTGTGGATTCTGTCCTCTCTCCACACAGGTTCTGACCTCTCACCCCAGGCCTTGCCCTGTGTGGACACTCTTCAGCCTGCTTAGATTCCAGTGCCTCACACCAGGTCACCCCTCCACACAGATGCTTGTCTTGCTCTGTCCCACTTAATGGTTTTAGAACTGGTTTAGGGAAGGGGGTGAACATGAGGAAGAGGGACCAGGCTCTACTCTTTTTTCTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCCCACCACAACTGCCACCTCCCAGGATCAAGCGATTCTCCTGCTTCAGCCTCCGGAGGAGCTGGGATTACAGGCGCCCACCACCGCGCCCAGCTAATGTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCTCCCCTCTGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCAGGCCTCTACTCTTATTTTTTTTTTTTTGAGACAGAGTATTGCTCTGTCCCCCAGGCTGAAGTGCAGTAGTATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGAGATTCTCCTGCTTCATCCTCCCGAGTAGCTGGGACTACAGGTGTGTGCCACCATGCTGACTAATTTTTGTATTTTTTTTTTTCTAGAGACAGGGTTTTGCCATGTTGTACAGGCTGGTCTTGAACTCCTGGGTTCAAGTGACCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGCAGGAACCACTGCACACAACCAGGCTCTACTCTTTATTGTTACAAAGAACTTATCACATTATATGAGCCTGCTAGGACTGTCATTAGGCAGGTGAGGCCTTTGGGAGGCAATTAGGTCATGAGGGTGGAGCCCTTATATATGGGATTAGTGCCCTTATTAAGGGACTGTGCCTGGCATGGTTGTTCTCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCTTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACTTGGAGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGCATGTTGATGCGTGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAGAAAAAAAAAAAAGGAATGCAGAGAACTTCCTTGTCCCTTCCACCATGCAAGAACACAGCAAGAAAACTCAATCTGTGAGCAAGAATGTGCGCCCTCACCAGACACCCAATCTGCAGGTGCCTTGATCTTGGACTTCCCAGCCTCCAGAACTGTGACATATCAATTCCTGTTGTTTACAAGCCACCCAGTCTGTTTCGTTACAACAGCCCAAACGGACTAAGCCTTCAACATGGGAATCTGGGGGGACACGATTCGTCTATAGCAGCTTCCCACCAGGCTTTCCAAACTGTGTGTTTCCTGTTTATCATATACCCTCCCACCCACTGCACGTCAGCTTCTCACTGCAGGGATCGTGTCTCTGTGGCATCCCAAGTTCCTGGAGGGGCTGCTGGAGGCCCTTGTACATATGTGCAGAGGAAACGCTTGCGTCTGAGGAAGCTCCTGTGGGGCGCCTCACTCCCACTCTCCCCACTCCTCAGACCTTGGGCATGGAAAGTCGGAATCCCTGGGACCAGGTACAAACAGTTTATTTTTCTATAAAGAGCAAAGTACAAAGAGGCAGGGAGGGGAGCTGGGCCCAGGGGAGCAGCCCTGGGCAGGCCCCAAGGCCTTGGCTATGGTGAGGACGACCTGGCAGCTGCCCCAGGAGTAAATGGGCCTCTGGCGTGCAGTGGAGAAAGAGCAGGAGTGGCGAGGAGGAAGCCCACGCCTGCTGCCAGGAGTCATACAAAGCCAGGCTTCATGGATGAGCGGCGGCAGTTGGGACAGCTCCGGGTCCCGTTGCTGCAGGCACCTGGGGAGGCAAAGGGCCCTGTCCACTCCCCTGAGGCCTGTCCTTCCCTCCGGGCCCTCTCTTCCTTCCTTGCCTGCCCTCTGCAGGGGCTGGGATGCATCCTGGTGGCTGTTCAGCAGCAGTGGAAGGGAAGGGAACGGTCCCCCCAGGCTCCCACTGCACCCGGCTTGCCCCTCTCCTCCTCTGCCCCAGGGACCTCCAGGGCAGAGCAGGGGCTGGGAGTTGAGAGGATGGGATGGAACCAGACCCACGGCAGGTCTGGCCCTGGACGTCCGACCTAATGACCTTTGAGGGGCCTCTCTGACTCCTCTTTGGGGATTATGAAAAGAATGGCCACAGATCTCAGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGGCTCCCACCACCATGCCTGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGATGATCTTGAACCCCGGGGCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTTGCGAGACAGACGTGAGGCACCACGCCTGGCCAAGGTTAAGTGTTTGCTATTAGTATTATTGCTGTGATTAAGCCAGCTGGGCCCTAGAGTGCCCCGAAGAGATCCTGCCCACCCCTGTCCACCCCCCCAGGAGCCCCCACCTGAGGTGGAAGATGTGGGAGCAAGGTAGGGCCTGCAGCCGGCTGTTCTTCTCGCCTATGGACTCGCCGCACAGGCCGCAGTAGAGCTCCGTCTCCTCCACGCACTCGTGGAACCTCACAACGTGCGCCCGCAGTTCCCGCTGCAGCCCTTTGCTGCGGTAAATGCTCTCGCTCAGACAGTGCAGCTTGAGCTGGCTCAGCTGGGGCCCGCAGGAGTGGAGAGCGCCAGTGGGGGATGAGAACAAAGTCAGTGCAGGTAGGCTCCGGTCTCAGCCACTTCCCTGTCTTGCTGATGGACCTTGGAAAAATGTCCTGCCCTCTCTGGGACCTTGCTTCCTTTCATGCAGAATGAGGCGGTGGGTGAGATCAGAAGACTTCACCCCCCAGAACTGCCTGGAGACCCCATGTTTTTGACAGATTTTATGACCAAACCTGGTGCACAGACTCCATAATAATTTGCGGCAGGGCGCCGTGGCTCATGCCTGTAATCCCAGCACTTGGGGAGGCCGAGGCAGGTGGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGTGAGTGCCTGTAATCCCTGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCGAAATCGCACCACTGCACTCCAGCCTGGGCTCTAATAGTGAAACTCCGTCTCAAAAAAAAATAATAATTAATCTGCTTTCCTGTTTTTATTAATTAAATATACACACAATAGCTCATCAGCATTTCTGATCAGCCTGATACCCAGGTAAACCAGAGTGGCTATAATCCAACCAAATTTTGGCATTTTGGTTGGACTGTGCACAGGATCTCGTAGAAATGCACATCTGGAAGGCTTTGAGAAGTGGTGAACCTGTTTTCAAGATTTTAAGGTTTTAATAAGATTATGACGATTTTTTTTTTTTTTTTTTTAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGTTCATGGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCGTGCACTACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGTCAGGCTGATCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAATGCAGGTGTGAGCCACCGCACCCGGCCTTGGTTTTGGTTTTTAGGCCATGCTAATCTTCTCTGTATTGTTCCAATTTCAGAATATGGGCTGCCAAAGCAAGCACTAGATACCATTATTAANN | pathogenic | 176,160 |
Is the chromosome 11, position 47438776 variant in RAPSN (receptor associated protein of the synapse) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_2', 'RAPSN-related_disorder'] | GGCTGGTCTTGAACTCCTGGGTTCAAGTGACCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGCAGGAACCACTGCACACAACCAGGCTCTACTCTTTATTGTTACAAAGAACTTATCACATTATATGAGCCTGCTAGGACTGTCATTAGGCAGGTGAGGCCTTTGGGAGGCAATTAGGTCATGAGGGTGGAGCCCTTATATATGGGATTAGTGCCCTTATTAAGGGACTGTGCCTGGCATGGTTGTTCTCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCTTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACTTGGAGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGCATGTTGATGCGTGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAGAAAAAAAAAAAAGGAATGCAGAGAACTTCCTTGTCCCTTCCACCATGCAAGAACACAGCAAGAAAACTCAATCTGTGAGCAAGAATGTGCGCCCTCACCAGACACCCAATCTGCAGGTGCCTTGATCTTGGACTTCCCAGCCTCCAGAACTGTGACATATCAATTCCTGTTGTTTACAAGCCACCCAGTCTGTTTCGTTACAACAGCCCAAACGGACTAAGCCTTCAACATGGGAATCTGGGGGGACACGATTCGTCTATAGCAGCTTCCCACCAGGCTTTCCAAACTGTGTGTTTCCTGTTTATCATATACCCTCCCACCCACTGCACGTCAGCTTCTCACTGCAGGGATCGTGTCTCTGTGGCATCCCAAGTTCCTGGAGGGGCTGCTGGAGGCCCTTGTACATATGTGCAGAGGAAACGCTTGCGTCTGAGGAAGCTCCTGTGGGGCGCCTCACTCCCACTCTCCCCACTCCTCAGACCTTGGGCATGGAAAGTCGGAATCCCTGGGACCAGGTACAAACAGTTTATTTTTCTATAAAGAGCAAAGTACAAAGAGGCAGGGAGGGGAGCTGGGCCCAGGGGAGCAGCCCTGGGCAGGCCCCAAGGCCTTGGCTATGGTGAGGACGACCTGGCAGCTGCCCCAGGAGTAAATGGGCCTCTGGCGTGCAGTGGAGAAAGAGCAGGAGTGGCGAGGAGGAAGCCCACGCCTGCTGCCAGGAGTCATACAAAGCCAGGCTTCATGGATGAGCGGCGGCAGTTGGGACAGCTCCGGGTCCCGTTGTTCTGCAGGCACCTGGGGAGGCAAAGGGCCCTGTCCACTCCCCTGAGGCCTGTCCTTCCCTCCGGGCCCTCTCTTCCTTCCTTGCCTGCCCTCTGCAGGGGCTGGGATGCATCCTGGTGGCTGTTCAGCAGCAGTGGAAGGGAAGGGAACGGTCCCCCCAGGCTCCCACTGCACCCGGCTTGCCCCTCTCCTCCTCTGCCCCAGGGACCTCCAGGGCAGAGCAGGGGCTGGGAGTTGAGAGGATGGGATGGAACCAGACCCACGGCAGGTCTGGCCCTGGACGTCCGACCTAATGACCTTTGAGGGGCCTCTCTGACTCCTCTTTGGGGATTATGAAAAGAATGGCCACAGATCTCAGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGGCTCCCACCACCATGCCTGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGATGATCTTGAACCCCGGGGCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTTGCGAGACAGACGTGAGGCACCACGCCTGGCCAAGGTTAAGTGTTTGCTATTAGTATTATTGCTGTGATTAAGCCAGCTGGGCCCTAGAGTGCCCCGAAGAGATCCTGCCCACCCCTGTCCACCCCCCCAGGAGCCCCCACCTGAGGTGGAAGATGTGGGAGCAAGGTAGGGCCTGCAGCCGGCTGTTCTTCTCGCCTATGGACTCGCCGCACAGGCCGCAGTAGAGCTCCGTCTCCTCCACGCACTCGTGGAACCTCACAACGTGCGCCCGCAGTTCCCGCTGCAGCCCTTTGCTGCGGTAAATGCTCTCGCTCAGACAGTGCAGCTTGAGCTGGCTCAGCTGGGGCCCGCAGGAGTGGAGAGCGCCAGTGGGGGATGAGAACAAAGTCAGTGCAGGTAGGCTCCGGTCTCAGCCACTTCCCTGTCTTGCTGATGGACCTTGGAAAAATGTCCTGCCCTCTCTGGGACCTTGCTTCCTTTCATGCAGAATGAGGCGGTGGGTGAGATCAGAAGACTTCACCCCCCAGAACTGCCTGGAGACCCCATGTTTTTGACAGATTTTATGACCAAACCTGGTGCACAGACTCCATAATAATTTGCGGCAGGGCGCCGTGGCTCATGCCTGTAATCCCAGCACTTGGGGAGGCCGAGGCAGGTGGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGTGAGTGCCTGTAATCCCTGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCGAAATCGCACCACTGCACTCCAGCCTGGGCTCTAATAGTGAAACTCCGTCTCAAAAAAAAATAATAATTAATCTGCTTTCCTGTTTTTATTAATTAAATATACACACAATAGCTCATCAGCATTTCTGATCAGCCTGATACCCAGGTAAACCAGAGTGGCTATAATCCAACCAAATTTTGGCATTTTGGTTGGACTGTGCACAGGATCTCGTAGAAATGCACATCTGGAAGGCTTTGAGAAGTGGTGAACCTGTTTTCAAGATTTTAAGGTTTTAATAAGATTATGACGATTTTTTTTTTTTTTTTTTTAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGTTCATGGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCGTGCACTACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGTCAGGCTGATCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAATGCAGGTGTGAGCCACCGCACCCGGCCTTGGTTTTGGTTTTTAGGCCATGCTAATCTTCTCTGTATTGTTCCAATTTCAGAATATGGGCTGCCAAAGCAAGCACTAGATACCATTATTAAATTTGGAACATGGGCTTTGTAGTTAAAACAGACAAGTTAGTAGGTGTGGGACCTTGGACGCCTCTTTGAGCCTCACTTTTCCTCATCTGTAAAATGGGGCTTGCTGTACTCACCTCACAGGGAGAGAGTGAGGACTGGACCCAGTACCCATAAGGACCCTGTGTGTGCTCAGTGCTCAGGGAGTGGAGGCCACTGTTAGTTTTTGTTTGTTTTGAGATAAGGTCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGAGCAATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCTATCCTCCCACCTCAGCCTCCCAAGTAGTTGGGACCTCAGGTGTGTGCCACAACAGCTGGCTAATTTTAAAACATTTTTTGTAGAGGCCGGGCCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTCAGACAAGCCTGGCCAACGCAGTGAATCCCCATCTCTATAAAAAATACAAAAATTAGCCCAGTGTGGTGGCGGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCACTTCAACCTGGGAGGCAGAGGTTGCAGTAAGCTGGGATCGCGCTATTGCACTCCAGCCTGGGAGACAAGAGCAAAACTCAATCTCAAAAATGTTTTTTTCTTTTCTTTTCTTTTCTTTTTTAGAGCATGGGTCTCATTATGTAGCCCAGGCTGCTCTCGA | GGCTGGTCTTGAACTCCTGGGTTCAAGTGACCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGCAGGAACCACTGCACACAACCAGGCTCTACTCTTTATTGTTACAAAGAACTTATCACATTATATGAGCCTGCTAGGACTGTCATTAGGCAGGTGAGGCCTTTGGGAGGCAATTAGGTCATGAGGGTGGAGCCCTTATATATGGGATTAGTGCCCTTATTAAGGGACTGTGCCTGGCATGGTTGTTCTCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCTTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACTTGGAGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGCATGTTGATGCGTGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAGAAAAAAAAAAAAGGAATGCAGAGAACTTCCTTGTCCCTTCCACCATGCAAGAACACAGCAAGAAAACTCAATCTGTGAGCAAGAATGTGCGCCCTCACCAGACACCCAATCTGCAGGTGCCTTGATCTTGGACTTCCCAGCCTCCAGAACTGTGACATATCAATTCCTGTTGTTTACAAGCCACCCAGTCTGTTTCGTTACAACAGCCCAAACGGACTAAGCCTTCAACATGGGAATCTGGGGGGACACGATTCGTCTATAGCAGCTTCCCACCAGGCTTTCCAAACTGTGTGTTTCCTGTTTATCATATACCCTCCCACCCACTGCACGTCAGCTTCTCACTGCAGGGATCGTGTCTCTGTGGCATCCCAAGTTCCTGGAGGGGCTGCTGGAGGCCCTTGTACATATGTGCAGAGGAAACGCTTGCGTCTGAGGAAGCTCCTGTGGGGCGCCTCACTCCCACTCTCCCCACTCCTCAGACCTTGGGCATGGAAAGTCGGAATCCCTGGGACCAGGTACAAACAGTTTATTTTTCTATAAAGAGCAAAGTACAAAGAGGCAGGGAGGGGAGCTGGGCCCAGGGGAGCAGCCCTGGGCAGGCCCCAAGGCCTTGGCTATGGTGAGGACGACCTGGCAGCTGCCCCAGGAGTAAATGGGCCTCTGGCGTGCAGTGGAGAAAGAGCAGGAGTGGCGAGGAGGAAGCCCACGCCTGCTGCCAGGAGTCATACAAAGCCAGGCTTCATGGATGAGCGGCGGCAGTTGGGACAGCTCCGGGTCCCGTTGTTCTGCAGGCACCTGGGGAGGCAAAGGGCCCTGTCCACTCCCCTGAGGCCTGTCCTTCCCTCCGGGCCCTCTCTTCCTTCCTTGCCTGCCCTCTGCAGGGGCTGGGATGCATCCTGGTGGCTGTTCAGCAGCAGTGGAAGGGAAGGGAACGGTCCCCCCAGGCTCCCACTGCACCCGGCTTGCCCCTCTCCTCCTCTGCCCCAGGGACCTCCAGGGCAGAGCAGGGGCTGGGAGTTGAGAGGATGGGATGGAACCAGACCCACGGCAGGTCTGGCCCTGGACGTCCGACCTAATGACCTTTGAGGGGCCTCTCTGACTCCTCTTTGGGGATTATGAAAAGAATGGCCACAGATCTCAGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGGCTCCCACCACCATGCCTGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGATGATCTTGAACCCCGGGGCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTTGCGAGACAGACGTGAGGCACCACGCCTGGCCAAGGTTAAGTGTTTGCTATTAGTATTATTGCTGTGATTAAGCCAGCTGGGCCCTAGAGTGCCCCGAAGAGATCCTGCCCACCCCTGTCCACCCCCCCAGGAGCCCCCACCTGAGGTGGAAGATGTGGGAGCAAGGTAGGGCCTGCAGCCGGCTGTTCTCGCCTATGGACTCGCCGCACAGGCCGCAGTAGAGCTCCGTCTCCTCCACGCACTCGTGGAACCTCACAACGTGCGCCCGCAGTTCCCGCTGCAGCCCTTTGCTGCGGTAAATGCTCTCGCTCAGACAGTGCAGCTTGAGCTGGCTCAGCTGGGGCCCGCAGGAGTGGAGAGCGCCAGTGGGGGATGAGAACAAAGTCAGTGCAGGTAGGCTCCGGTCTCAGCCACTTCCCTGTCTTGCTGATGGACCTTGGAAAAATGTCCTGCCCTCTCTGGGACCTTGCTTCCTTTCATGCAGAATGAGGCGGTGGGTGAGATCAGAAGACTTCACCCCCCAGAACTGCCTGGAGACCCCATGTTTTTGACAGATTTTATGACCAAACCTGGTGCACAGACTCCATAATAATTTGCGGCAGGGCGCCGTGGCTCATGCCTGTAATCCCAGCACTTGGGGAGGCCGAGGCAGGTGGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGTGAGTGCCTGTAATCCCTGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCGAAATCGCACCACTGCACTCCAGCCTGGGCTCTAATAGTGAAACTCCGTCTCAAAAAAAAATAATAATTAATCTGCTTTCCTGTTTTTATTAATTAAATATACACACAATAGCTCATCAGCATTTCTGATCAGCCTGATACCCAGGTAAACCAGAGTGGCTATAATCCAACCAAATTTTGGCATTTTGGTTGGACTGTGCACAGGATCTCGTAGAAATGCACATCTGGAAGGCTTTGAGAAGTGGTGAACCTGTTTTCAAGATTTTAAGGTTTTAATAAGATTATGACGATTTTTTTTTTTTTTTTTTTAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGTTCATGGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCGTGCACTACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGTCAGGCTGATCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAATGCAGGTGTGAGCCACCGCACCCGGCCTTGGTTTTGGTTTTTAGGCCATGCTAATCTTCTCTGTATTGTTCCAATTTCAGAATATGGGCTGCCAAAGCAAGCACTAGATACCATTATTAAATTTGGAACATGGGCTTTGTAGTTAAAACAGACAAGTTAGTAGGTGTGGGACCTTGGACGCCTCTTTGAGCCTCACTTTTCCTCATCTGTAAAATGGGGCTTGCTGTACTCACCTCACAGGGAGAGAGTGAGGACTGGACCCAGTACCCATAAGGACCCTGTGTGTGCTCAGTGCTCAGGGAGTGGAGGCCACTGTTAGTTTTTGTTTGTTTTGAGATAAGGTCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGAGCAATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCTATCCTCCCACCTCAGCCTCCCAAGTAGTTGGGACCTCAGGTGTGTGCCACAACAGCTGGCTAATTTTAAAACATTTTTTGTAGAGGCCGGGCCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTCAGACAAGCCTGGCCAACGCAGTGAATCCCCATCTCTATAAAAAATACAAAAATTAGCCCAGTGTGGTGGCGGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCACTTCAACCTGGGAGGCAGAGGTTGCAGTAAGCTGGGATCGCGCTATTGCACTCCAGCCTGGGAGACAAGAGCAAAACTCAATCTCAAAAATGTTTTTTTCTTTTCTTTTCTTTTCTTTTTTAGAGCATGGGTCTCATTATGTAGCCCAGGCTGCTCTCGANNN | pathogenic | 176,165 |
Located at chromosome 11 position 47438813, the variant affecting gene RAPSN (receptor associated protein of the synapse)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Congenital_myasthenic_syndrome', 'Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_2'] | ACCTCGGCCTCCCAAAGTGCTGGAATTACAAGCAGGAACCACTGCACACAACCAGGCTCTACTCTTTATTGTTACAAAGAACTTATCACATTATATGAGCCTGCTAGGACTGTCATTAGGCAGGTGAGGCCTTTGGGAGGCAATTAGGTCATGAGGGTGGAGCCCTTATATATGGGATTAGTGCCCTTATTAAGGGACTGTGCCTGGCATGGTTGTTCTCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCTTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACTTGGAGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGCATGTTGATGCGTGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAGAAAAAAAAAAAAGGAATGCAGAGAACTTCCTTGTCCCTTCCACCATGCAAGAACACAGCAAGAAAACTCAATCTGTGAGCAAGAATGTGCGCCCTCACCAGACACCCAATCTGCAGGTGCCTTGATCTTGGACTTCCCAGCCTCCAGAACTGTGACATATCAATTCCTGTTGTTTACAAGCCACCCAGTCTGTTTCGTTACAACAGCCCAAACGGACTAAGCCTTCAACATGGGAATCTGGGGGGACACGATTCGTCTATAGCAGCTTCCCACCAGGCTTTCCAAACTGTGTGTTTCCTGTTTATCATATACCCTCCCACCCACTGCACGTCAGCTTCTCACTGCAGGGATCGTGTCTCTGTGGCATCCCAAGTTCCTGGAGGGGCTGCTGGAGGCCCTTGTACATATGTGCAGAGGAAACGCTTGCGTCTGAGGAAGCTCCTGTGGGGCGCCTCACTCCCACTCTCCCCACTCCTCAGACCTTGGGCATGGAAAGTCGGAATCCCTGGGACCAGGTACAAACAGTTTATTTTTCTATAAAGAGCAAAGTACAAAGAGGCAGGGAGGGGAGCTGGGCCCAGGGGAGCAGCCCTGGGCAGGCCCCAAGGCCTTGGCTATGGTGAGGACGACCTGGCAGCTGCCCCAGGAGTAAATGGGCCTCTGGCGTGCAGTGGAGAAAGAGCAGGAGTGGCGAGGAGGAAGCCCACGCCTGCTGCCAGGAGTCATACAAAGCCAGGCTTCATGGATGAGCGGCGGCAGTTGGGACAGCTCCGGGTCCCGTTGTTCTGCAGGCACCTGGGGAGGCAAAGGGCCCTGTCCACTCCCCTGAGGCCTGTCCTTCCCTCCGGGCCCTCTCTTCCTTCCTTGCCTGCCCTCTGCAGGGGCTGGGATGCATCCTGGTGGCTGTTCAGCAGCAGTGGAAGGGAAGGGAACGGTCCCCCCAGGCTCCCACTGCACCCGGCTTGCCCCTCTCCTCCTCTGCCCCAGGGACCTCCAGGGCAGAGCAGGGGCTGGGAGTTGAGAGGATGGGATGGAACCAGACCCACGGCAGGTCTGGCCCTGGACGTCCGACCTAATGACCTTTGAGGGGCCTCTCTGACTCCTCTTTGGGGATTATGAAAAGAATGGCCACAGATCTCAGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGGCTCCCACCACCATGCCTGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGATGATCTTGAACCCCGGGGCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTTGCGAGACAGACGTGAGGCACCACGCCTGGCCAAGGTTAAGTGTTTGCTATTAGTATTATTGCTGTGATTAAGCCAGCTGGGCCCTAGAGTGCCCCGAAGAGATCCTGCCCACCCCTGTCCACCCCCCCAGGAGCCCCCACCTGAGGTGGAAGATGTGGGAGCAAGGTAGGGCCTGCAGCCGGCTGTTCTTCTCGCCTATGGACTCGCCGCACAGGCCGCAGTAGAGCTCCGTCTCCTCCACGCACTCGTGGAACCTCACAACGTGCGCCCGCAGTTCCCGCTGCAGCCCTTTGCTGCGGTAAATGCTCTCGCTCAGACAGTGCAGCTTGAGCTGGCTCAGCTGGGGCCCGCAGGAGTGGAGAGCGCCAGTGGGGGATGAGAACAAAGTCAGTGCAGGTAGGCTCCGGTCTCAGCCACTTCCCTGTCTTGCTGATGGACCTTGGAAAAATGTCCTGCCCTCTCTGGGACCTTGCTTCCTTTCATGCAGAATGAGGCGGTGGGTGAGATCAGAAGACTTCACCCCCCAGAACTGCCTGGAGACCCCATGTTTTTGACAGATTTTATGACCAAACCTGGTGCACAGACTCCATAATAATTTGCGGCAGGGCGCCGTGGCTCATGCCTGTAATCCCAGCACTTGGGGAGGCCGAGGCAGGTGGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGTGAGTGCCTGTAATCCCTGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCGAAATCGCACCACTGCACTCCAGCCTGGGCTCTAATAGTGAAACTCCGTCTCAAAAAAAAATAATAATTAATCTGCTTTCCTGTTTTTATTAATTAAATATACACACAATAGCTCATCAGCATTTCTGATCAGCCTGATACCCAGGTAAACCAGAGTGGCTATAATCCAACCAAATTTTGGCATTTTGGTTGGACTGTGCACAGGATCTCGTAGAAATGCACATCTGGAAGGCTTTGAGAAGTGGTGAACCTGTTTTCAAGATTTTAAGGTTTTAATAAGATTATGACGATTTTTTTTTTTTTTTTTTTAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGTTCATGGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCGTGCACTACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGTCAGGCTGATCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAATGCAGGTGTGAGCCACCGCACCCGGCCTTGGTTTTGGTTTTTAGGCCATGCTAATCTTCTCTGTATTGTTCCAATTTCAGAATATGGGCTGCCAAAGCAAGCACTAGATACCATTATTAAATTTGGAACATGGGCTTTGTAGTTAAAACAGACAAGTTAGTAGGTGTGGGACCTTGGACGCCTCTTTGAGCCTCACTTTTCCTCATCTGTAAAATGGGGCTTGCTGTACTCACCTCACAGGGAGAGAGTGAGGACTGGACCCAGTACCCATAAGGACCCTGTGTGTGCTCAGTGCTCAGGGAGTGGAGGCCACTGTTAGTTTTTGTTTGTTTTGAGATAAGGTCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGAGCAATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCTATCCTCCCACCTCAGCCTCCCAAGTAGTTGGGACCTCAGGTGTGTGCCACAACAGCTGGCTAATTTTAAAACATTTTTTGTAGAGGCCGGGCCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTCAGACAAGCCTGGCCAACGCAGTGAATCCCCATCTCTATAAAAAATACAAAAATTAGCCCAGTGTGGTGGCGGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCACTTCAACCTGGGAGGCAGAGGTTGCAGTAAGCTGGGATCGCGCTATTGCACTCCAGCCTGGGAGACAAGAGCAAAACTCAATCTCAAAAATGTTTTTTTCTTTTCTTTTCTTTTCTTTTTTAGAGCATGGGTCTCATTATGTAGCCCAGGCTGCTCTCGAACTTCTGGGCTCAAGTGATCCTCCTACCTCGGCCTCC | ACCTCGGCCTCCCAAAGTGCTGGAATTACAAGCAGGAACCACTGCACACAACCAGGCTCTACTCTTTATTGTTACAAAGAACTTATCACATTATATGAGCCTGCTAGGACTGTCATTAGGCAGGTGAGGCCTTTGGGAGGCAATTAGGTCATGAGGGTGGAGCCCTTATATATGGGATTAGTGCCCTTATTAAGGGACTGTGCCTGGCATGGTTGTTCTCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCTTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACTTGGAGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGCATGTTGATGCGTGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAGAAAAAAAAAAAAGGAATGCAGAGAACTTCCTTGTCCCTTCCACCATGCAAGAACACAGCAAGAAAACTCAATCTGTGAGCAAGAATGTGCGCCCTCACCAGACACCCAATCTGCAGGTGCCTTGATCTTGGACTTCCCAGCCTCCAGAACTGTGACATATCAATTCCTGTTGTTTACAAGCCACCCAGTCTGTTTCGTTACAACAGCCCAAACGGACTAAGCCTTCAACATGGGAATCTGGGGGGACACGATTCGTCTATAGCAGCTTCCCACCAGGCTTTCCAAACTGTGTGTTTCCTGTTTATCATATACCCTCCCACCCACTGCACGTCAGCTTCTCACTGCAGGGATCGTGTCTCTGTGGCATCCCAAGTTCCTGGAGGGGCTGCTGGAGGCCCTTGTACATATGTGCAGAGGAAACGCTTGCGTCTGAGGAAGCTCCTGTGGGGCGCCTCACTCCCACTCTCCCCACTCCTCAGACCTTGGGCATGGAAAGTCGGAATCCCTGGGACCAGGTACAAACAGTTTATTTTTCTATAAAGAGCAAAGTACAAAGAGGCAGGGAGGGGAGCTGGGCCCAGGGGAGCAGCCCTGGGCAGGCCCCAAGGCCTTGGCTATGGTGAGGACGACCTGGCAGCTGCCCCAGGAGTAAATGGGCCTCTGGCGTGCAGTGGAGAAAGAGCAGGAGTGGCGAGGAGGAAGCCCACGCCTGCTGCCAGGAGTCATACAAAGCCAGGCTTCATGGATGAGCGGCGGCAGTTGGGACAGCTCCGGGTCCCGTTGTTCTGCAGGCACCTGGGGAGGCAAAGGGCCCTGTCCACTCCCCTGAGGCCTGTCCTTCCCTCCGGGCCCTCTCTTCCTTCCTTGCCTGCCCTCTGCAGGGGCTGGGATGCATCCTGGTGGCTGTTCAGCAGCAGTGGAAGGGAAGGGAACGGTCCCCCCAGGCTCCCACTGCACCCGGCTTGCCCCTCTCCTCCTCTGCCCCAGGGACCTCCAGGGCAGAGCAGGGGCTGGGAGTTGAGAGGATGGGATGGAACCAGACCCACGGCAGGTCTGGCCCTGGACGTCCGACCTAATGACCTTTGAGGGGCCTCTCTGACTCCTCTTTGGGGATTATGAAAAGAATGGCCACAGATCTCAGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGGCTCCCACCACCATGCCTGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGATGATCTTGAACCCCGGGGCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTTGCGAGACAGACGTGAGGCACCACGCCTGGCCAAGGTTAAGTGTTTGCTATTAGTATTATTGCTGTGATTAAGCCAGCTGGGCCCTAGAGTGCCCCGAAGAGATCCTGCCCACCCCTGTCCACCCCCCCAGGAGCCCCCACCTGAGGTGGAAGATGTGGGAGCAAGGTAGGGCCTGCAGCCGGCTGTTCTTCTCGCCTATGGACTCGCCGCACAGGCCGCAGTAGAGAGCTCCGTCTCCTCCACGCACTCGTGGAACCTCACAACGTGCGCCCGCAGTTCCCGCTGCAGCCCTTTGCTGCGGTAAATGCTCTCGCTCAGACAGTGCAGCTTGAGCTGGCTCAGCTGGGGCCCGCAGGAGTGGAGAGCGCCAGTGGGGGATGAGAACAAAGTCAGTGCAGGTAGGCTCCGGTCTCAGCCACTTCCCTGTCTTGCTGATGGACCTTGGAAAAATGTCCTGCCCTCTCTGGGACCTTGCTTCCTTTCATGCAGAATGAGGCGGTGGGTGAGATCAGAAGACTTCACCCCCCAGAACTGCCTGGAGACCCCATGTTTTTGACAGATTTTATGACCAAACCTGGTGCACAGACTCCATAATAATTTGCGGCAGGGCGCCGTGGCTCATGCCTGTAATCCCAGCACTTGGGGAGGCCGAGGCAGGTGGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGTGAGTGCCTGTAATCCCTGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCGAAATCGCACCACTGCACTCCAGCCTGGGCTCTAATAGTGAAACTCCGTCTCAAAAAAAAATAATAATTAATCTGCTTTCCTGTTTTTATTAATTAAATATACACACAATAGCTCATCAGCATTTCTGATCAGCCTGATACCCAGGTAAACCAGAGTGGCTATAATCCAACCAAATTTTGGCATTTTGGTTGGACTGTGCACAGGATCTCGTAGAAATGCACATCTGGAAGGCTTTGAGAAGTGGTGAACCTGTTTTCAAGATTTTAAGGTTTTAATAAGATTATGACGATTTTTTTTTTTTTTTTTTTAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGTTCATGGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCGTGCACTACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGTCAGGCTGATCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAATGCAGGTGTGAGCCACCGCACCCGGCCTTGGTTTTGGTTTTTAGGCCATGCTAATCTTCTCTGTATTGTTCCAATTTCAGAATATGGGCTGCCAAAGCAAGCACTAGATACCATTATTAAATTTGGAACATGGGCTTTGTAGTTAAAACAGACAAGTTAGTAGGTGTGGGACCTTGGACGCCTCTTTGAGCCTCACTTTTCCTCATCTGTAAAATGGGGCTTGCTGTACTCACCTCACAGGGAGAGAGTGAGGACTGGACCCAGTACCCATAAGGACCCTGTGTGTGCTCAGTGCTCAGGGAGTGGAGGCCACTGTTAGTTTTTGTTTGTTTTGAGATAAGGTCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGAGCAATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCTATCCTCCCACCTCAGCCTCCCAAGTAGTTGGGACCTCAGGTGTGTGCCACAACAGCTGGCTAATTTTAAAACATTTTTTGTAGAGGCCGGGCCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTCAGACAAGCCTGGCCAACGCAGTGAATCCCCATCTCTATAAAAAATACAAAAATTAGCCCAGTGTGGTGGCGGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCACTTCAACCTGGGAGGCAGAGGTTGCAGTAAGCTGGGATCGCGCTATTGCACTCCAGCCTGGGAGACAAGAGCAAAACTCAATCTCAAAAATGTTTTTTTCTTTTCTTTTCTTTTCTTTTTTAGAGCATGGGTCTCATTATGTAGCCCAGGCTGCTCTCGAACTTCTGGGCTCAAGTGATCCTCCTACCTCGGCCT | pathogenic | 176,167 |
The mutation impacting RAPSN (receptor associated protein of the synapse) on chromosome 11 at position 47438827: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_2'] | AAGTGCTGGAATTACAAGCAGGAACCACTGCACACAACCAGGCTCTACTCTTTATTGTTACAAAGAACTTATCACATTATATGAGCCTGCTAGGACTGTCATTAGGCAGGTGAGGCCTTTGGGAGGCAATTAGGTCATGAGGGTGGAGCCCTTATATATGGGATTAGTGCCCTTATTAAGGGACTGTGCCTGGCATGGTTGTTCTCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCTTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACTTGGAGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGCATGTTGATGCGTGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAGAAAAAAAAAAAAGGAATGCAGAGAACTTCCTTGTCCCTTCCACCATGCAAGAACACAGCAAGAAAACTCAATCTGTGAGCAAGAATGTGCGCCCTCACCAGACACCCAATCTGCAGGTGCCTTGATCTTGGACTTCCCAGCCTCCAGAACTGTGACATATCAATTCCTGTTGTTTACAAGCCACCCAGTCTGTTTCGTTACAACAGCCCAAACGGACTAAGCCTTCAACATGGGAATCTGGGGGGACACGATTCGTCTATAGCAGCTTCCCACCAGGCTTTCCAAACTGTGTGTTTCCTGTTTATCATATACCCTCCCACCCACTGCACGTCAGCTTCTCACTGCAGGGATCGTGTCTCTGTGGCATCCCAAGTTCCTGGAGGGGCTGCTGGAGGCCCTTGTACATATGTGCAGAGGAAACGCTTGCGTCTGAGGAAGCTCCTGTGGGGCGCCTCACTCCCACTCTCCCCACTCCTCAGACCTTGGGCATGGAAAGTCGGAATCCCTGGGACCAGGTACAAACAGTTTATTTTTCTATAAAGAGCAAAGTACAAAGAGGCAGGGAGGGGAGCTGGGCCCAGGGGAGCAGCCCTGGGCAGGCCCCAAGGCCTTGGCTATGGTGAGGACGACCTGGCAGCTGCCCCAGGAGTAAATGGGCCTCTGGCGTGCAGTGGAGAAAGAGCAGGAGTGGCGAGGAGGAAGCCCACGCCTGCTGCCAGGAGTCATACAAAGCCAGGCTTCATGGATGAGCGGCGGCAGTTGGGACAGCTCCGGGTCCCGTTGTTCTGCAGGCACCTGGGGAGGCAAAGGGCCCTGTCCACTCCCCTGAGGCCTGTCCTTCCCTCCGGGCCCTCTCTTCCTTCCTTGCCTGCCCTCTGCAGGGGCTGGGATGCATCCTGGTGGCTGTTCAGCAGCAGTGGAAGGGAAGGGAACGGTCCCCCCAGGCTCCCACTGCACCCGGCTTGCCCCTCTCCTCCTCTGCCCCAGGGACCTCCAGGGCAGAGCAGGGGCTGGGAGTTGAGAGGATGGGATGGAACCAGACCCACGGCAGGTCTGGCCCTGGACGTCCGACCTAATGACCTTTGAGGGGCCTCTCTGACTCCTCTTTGGGGATTATGAAAAGAATGGCCACAGATCTCAGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGGCTCCCACCACCATGCCTGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGATGATCTTGAACCCCGGGGCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTTGCGAGACAGACGTGAGGCACCACGCCTGGCCAAGGTTAAGTGTTTGCTATTAGTATTATTGCTGTGATTAAGCCAGCTGGGCCCTAGAGTGCCCCGAAGAGATCCTGCCCACCCCTGTCCACCCCCCCAGGAGCCCCCACCTGAGGTGGAAGATGTGGGAGCAAGGTAGGGCCTGCAGCCGGCTGTTCTTCTCGCCTATGGACTCGCCGCACAGGCCGCAGTAGAGCTCCGTCTCCTCCACGCACTCGTGGAACCTCACAACGTGCGCCCGCAGTTCCCGCTGCAGCCCTTTGCTGCGGTAAATGCTCTCGCTCAGACAGTGCAGCTTGAGCTGGCTCAGCTGGGGCCCGCAGGAGTGGAGAGCGCCAGTGGGGGATGAGAACAAAGTCAGTGCAGGTAGGCTCCGGTCTCAGCCACTTCCCTGTCTTGCTGATGGACCTTGGAAAAATGTCCTGCCCTCTCTGGGACCTTGCTTCCTTTCATGCAGAATGAGGCGGTGGGTGAGATCAGAAGACTTCACCCCCCAGAACTGCCTGGAGACCCCATGTTTTTGACAGATTTTATGACCAAACCTGGTGCACAGACTCCATAATAATTTGCGGCAGGGCGCCGTGGCTCATGCCTGTAATCCCAGCACTTGGGGAGGCCGAGGCAGGTGGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGTGAGTGCCTGTAATCCCTGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCGAAATCGCACCACTGCACTCCAGCCTGGGCTCTAATAGTGAAACTCCGTCTCAAAAAAAAATAATAATTAATCTGCTTTCCTGTTTTTATTAATTAAATATACACACAATAGCTCATCAGCATTTCTGATCAGCCTGATACCCAGGTAAACCAGAGTGGCTATAATCCAACCAAATTTTGGCATTTTGGTTGGACTGTGCACAGGATCTCGTAGAAATGCACATCTGGAAGGCTTTGAGAAGTGGTGAACCTGTTTTCAAGATTTTAAGGTTTTAATAAGATTATGACGATTTTTTTTTTTTTTTTTTTAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGTTCATGGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCGTGCACTACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGTCAGGCTGATCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAATGCAGGTGTGAGCCACCGCACCCGGCCTTGGTTTTGGTTTTTAGGCCATGCTAATCTTCTCTGTATTGTTCCAATTTCAGAATATGGGCTGCCAAAGCAAGCACTAGATACCATTATTAAATTTGGAACATGGGCTTTGTAGTTAAAACAGACAAGTTAGTAGGTGTGGGACCTTGGACGCCTCTTTGAGCCTCACTTTTCCTCATCTGTAAAATGGGGCTTGCTGTACTCACCTCACAGGGAGAGAGTGAGGACTGGACCCAGTACCCATAAGGACCCTGTGTGTGCTCAGTGCTCAGGGAGTGGAGGCCACTGTTAGTTTTTGTTTGTTTTGAGATAAGGTCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGAGCAATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCTATCCTCCCACCTCAGCCTCCCAAGTAGTTGGGACCTCAGGTGTGTGCCACAACAGCTGGCTAATTTTAAAACATTTTTTGTAGAGGCCGGGCCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTCAGACAAGCCTGGCCAACGCAGTGAATCCCCATCTCTATAAAAAATACAAAAATTAGCCCAGTGTGGTGGCGGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCACTTCAACCTGGGAGGCAGAGGTTGCAGTAAGCTGGGATCGCGCTATTGCACTCCAGCCTGGGAGACAAGAGCAAAACTCAATCTCAAAAATGTTTTTTTCTTTTCTTTTCTTTTCTTTTTTAGAGCATGGGTCTCATTATGTAGCCCAGGCTGCTCTCGAACTTCTGGGCTCAAGTGATCCTCCTACCTCGGCCTCCCAAAATTCTAGGAT 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AAGTGCTGGAATTACAAGCAGGAACCACTGCACACAACCAGGCTCTACTCTTTATTGTTACAAAGAACTTATCACATTATATGAGCCTGCTAGGACTGTCATTAGGCAGGTGAGGCCTTTGGGAGGCAATTAGGTCATGAGGGTGGAGCCCTTATATATGGGATTAGTGCCCTTATTAAGGGACTGTGCCTGGCATGGTTGTTCTCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCTTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACTTGGAGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGCATGTTGATGCGTGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAGAAAAAAAAAAAAGGAATGCAGAGAACTTCCTTGTCCCTTCCACCATGCAAGAACACAGCAAGAAAACTCAATCTGTGAGCAAGAATGTGCGCCCTCACCAGACACCCAATCTGCAGGTGCCTTGATCTTGGACTTCCCAGCCTCCAGAACTGTGACATATCAATTCCTGTTGTTTACAAGCCACCCAGTCTGTTTCGTTACAACAGCCCAAACGGACTAAGCCTTCAACATGGGAATCTGGGGGGACACGATTCGTCTATAGCAGCTTCCCACCAGGCTTTCCAAACTGTGTGTTTCCTGTTTATCATATACCCTCCCACCCACTGCACGTCAGCTTCTCACTGCAGGGATCGTGTCTCTGTGGCATCCCAAGTTCCTGGAGGGGCTGCTGGAGGCCCTTGTACATATGTGCAGAGGAAACGCTTGCGTCTGAGGAAGCTCCTGTGGGGCGCCTCACTCCCACTCTCCCCACTCCTCAGACCTTGGGCATGGAAAGTCGGAATCCCTGGGACCAGGTACAAACAGTTTATTTTTCTATAAAGAGCAAAGTACAAAGAGGCAGGGAGGGGAGCTGGGCCCAGGGGAGCAGCCCTGGGCAGGCCCCAAGGCCTTGGCTATGGTGAGGACGACCTGGCAGCTGCCCCAGGAGTAAATGGGCCTCTGGCGTGCAGTGGAGAAAGAGCAGGAGTGGCGAGGAGGAAGCCCACGCCTGCTGCCAGGAGTCATACAAAGCCAGGCTTCATGGATGAGCGGCGGCAGTTGGGACAGCTCCGGGTCCCGTTGTTCTGCAGGCACCTGGGGAGGCAAAGGGCCCTGTCCACTCCCCTGAGGCCTGTCCTTCCCTCCGGGCCCTCTCTTCCTTCCTTGCCTGCCCTCTGCAGGGGCTGGGATGCATCCTGGTGGCTGTTCAGCAGCAGTGGAAGGGAAGGGAACGGTCCCCCCAGGCTCCCACTGCACCCGGCTTGCCCCTCTCCTCCTCTGCCCCAGGGACCTCCAGGGCAGAGCAGGGGCTGGGAGTTGAGAGGATGGGATGGAACCAGACCCACGGCAGGTCTGGCCCTGGACGTCCGACCTAATGACCTTTGAGGGGCCTCTCTGACTCCTCTTTGGGGATTATGAAAAGAATGGCCACAGATCTCAGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGGCTCCCACCACCATGCCTGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGATGATCTTGAACCCCGGGGCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTTGCGAGACAGACGTGAGGCACCACGCCTGGCCAAGGTTAAGTGTTTGCTATTAGTATTATTGCTGTGATTAAGCCAGCTGGGCCCTAGAGTGCCCCGAAGAGATCCTGCCCACCCCTGTCCACCCCCCCAGGAGCCCCCACCTGAGGTGGAAGATGTGGGAGCAAGGTAGGGCCTGCAGCCGGCTGTTCTTCTCGCCTATGGACTCGCCGCACAGGCCGCAGTAGAGCTCCGTCTCCTTCCACGCACTCGTGGAACCTCACAACGTGCGCCCGCAGTTCCCGCTGCAGCCCTTTGCTGCGGTAAATGCTCTCGCTCAGACAGTGCAGCTTGAGCTGGCTCAGCTGGGGCCCGCAGGAGTGGAGAGCGCCAGTGGGGGATGAGAACAAAGTCAGTGCAGGTAGGCTCCGGTCTCAGCCACTTCCCTGTCTTGCTGATGGACCTTGGAAAAATGTCCTGCCCTCTCTGGGACCTTGCTTCCTTTCATGCAGAATGAGGCGGTGGGTGAGATCAGAAGACTTCACCCCCCAGAACTGCCTGGAGACCCCATGTTTTTGACAGATTTTATGACCAAACCTGGTGCACAGACTCCATAATAATTTGCGGCAGGGCGCCGTGGCTCATGCCTGTAATCCCAGCACTTGGGGAGGCCGAGGCAGGTGGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGTGAGTGCCTGTAATCCCTGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCGAAATCGCACCACTGCACTCCAGCCTGGGCTCTAATAGTGAAACTCCGTCTCAAAAAAAAATAATAATTAATCTGCTTTCCTGTTTTTATTAATTAAATATACACACAATAGCTCATCAGCATTTCTGATCAGCCTGATACCCAGGTAAACCAGAGTGGCTATAATCCAACCAAATTTTGGCATTTTGGTTGGACTGTGCACAGGATCTCGTAGAAATGCACATCTGGAAGGCTTTGAGAAGTGGTGAACCTGTTTTCAAGATTTTAAGGTTTTAATAAGATTATGACGATTTTTTTTTTTTTTTTTTTAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGTTCATGGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCGTGCACTACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGTCAGGCTGATCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAATGCAGGTGTGAGCCACCGCACCCGGCCTTGGTTTTGGTTTTTAGGCCATGCTAATCTTCTCTGTATTGTTCCAATTTCAGAATATGGGCTGCCAAAGCAAGCACTAGATACCATTATTAAATTTGGAACATGGGCTTTGTAGTTAAAACAGACAAGTTAGTAGGTGTGGGACCTTGGACGCCTCTTTGAGCCTCACTTTTCCTCATCTGTAAAATGGGGCTTGCTGTACTCACCTCACAGGGAGAGAGTGAGGACTGGACCCAGTACCCATAAGGACCCTGTGTGTGCTCAGTGCTCAGGGAGTGGAGGCCACTGTTAGTTTTTGTTTGTTTTGAGATAAGGTCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGAGCAATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCTATCCTCCCACCTCAGCCTCCCAAGTAGTTGGGACCTCAGGTGTGTGCCACAACAGCTGGCTAATTTTAAAACATTTTTTGTAGAGGCCGGGCCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTCAGACAAGCCTGGCCAACGCAGTGAATCCCCATCTCTATAAAAAATACAAAAATTAGCCCAGTGTGGTGGCGGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCACTTCAACCTGGGAGGCAGAGGTTGCAGTAAGCTGGGATCGCGCTATTGCACTCCAGCCTGGGAGACAAGAGCAAAACTCAATCTCAAAAATGTTTTTTTCTTTTCTTTTCTTTTCTTTTTTAGAGCATGGGTCTCATTATGTAGCCCAGGCTGCTCTCGAACTTCTGGGCTCAAGTGATCCTCCTACCTCGGCCTCCCAAAATTCTAGGA | pathogenic | 176,168 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 47438852, gene RAPSN (receptor associated protein of the synapse): what disease(s) if pathogenic? | pathogenic; ['Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_2'] | CACTGCACACAACCAGGCTCTACTCTTTATTGTTACAAAGAACTTATCACATTATATGAGCCTGCTAGGACTGTCATTAGGCAGGTGAGGCCTTTGGGAGGCAATTAGGTCATGAGGGTGGAGCCCTTATATATGGGATTAGTGCCCTTATTAAGGGACTGTGCCTGGCATGGTTGTTCTCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCTTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACTTGGAGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGCATGTTGATGCGTGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAGAAAAAAAAAAAAGGAATGCAGAGAACTTCCTTGTCCCTTCCACCATGCAAGAACACAGCAAGAAAACTCAATCTGTGAGCAAGAATGTGCGCCCTCACCAGACACCCAATCTGCAGGTGCCTTGATCTTGGACTTCCCAGCCTCCAGAACTGTGACATATCAATTCCTGTTGTTTACAAGCCACCCAGTCTGTTTCGTTACAACAGCCCAAACGGACTAAGCCTTCAACATGGGAATCTGGGGGGACACGATTCGTCTATAGCAGCTTCCCACCAGGCTTTCCAAACTGTGTGTTTCCTGTTTATCATATACCCTCCCACCCACTGCACGTCAGCTTCTCACTGCAGGGATCGTGTCTCTGTGGCATCCCAAGTTCCTGGAGGGGCTGCTGGAGGCCCTTGTACATATGTGCAGAGGAAACGCTTGCGTCTGAGGAAGCTCCTGTGGGGCGCCTCACTCCCACTCTCCCCACTCCTCAGACCTTGGGCATGGAAAGTCGGAATCCCTGGGACCAGGTACAAACAGTTTATTTTTCTATAAAGAGCAAAGTACAAAGAGGCAGGGAGGGGAGCTGGGCCCAGGGGAGCAGCCCTGGGCAGGCCCCAAGGCCTTGGCTATGGTGAGGACGACCTGGCAGCTGCCCCAGGAGTAAATGGGCCTCTGGCGTGCAGTGGAGAAAGAGCAGGAGTGGCGAGGAGGAAGCCCACGCCTGCTGCCAGGAGTCATACAAAGCCAGGCTTCATGGATGAGCGGCGGCAGTTGGGACAGCTCCGGGTCCCGTTGTTCTGCAGGCACCTGGGGAGGCAAAGGGCCCTGTCCACTCCCCTGAGGCCTGTCCTTCCCTCCGGGCCCTCTCTTCCTTCCTTGCCTGCCCTCTGCAGGGGCTGGGATGCATCCTGGTGGCTGTTCAGCAGCAGTGGAAGGGAAGGGAACGGTCCCCCCAGGCTCCCACTGCACCCGGCTTGCCCCTCTCCTCCTCTGCCCCAGGGACCTCCAGGGCAGAGCAGGGGCTGGGAGTTGAGAGGATGGGATGGAACCAGACCCACGGCAGGTCTGGCCCTGGACGTCCGACCTAATGACCTTTGAGGGGCCTCTCTGACTCCTCTTTGGGGATTATGAAAAGAATGGCCACAGATCTCAGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGGCTCCCACCACCATGCCTGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGATGATCTTGAACCCCGGGGCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTTGCGAGACAGACGTGAGGCACCACGCCTGGCCAAGGTTAAGTGTTTGCTATTAGTATTATTGCTGTGATTAAGCCAGCTGGGCCCTAGAGTGCCCCGAAGAGATCCTGCCCACCCCTGTCCACCCCCCCAGGAGCCCCCACCTGAGGTGGAAGATGTGGGAGCAAGGTAGGGCCTGCAGCCGGCTGTTCTTCTCGCCTATGGACTCGCCGCACAGGCCGCAGTAGAGCTCCGTCTCCTCCACGCACTCGTGGAACCTCACAACGTGCGCCCGCAGTTCCCGCTGCAGCCCTTTGCTGCGGTAAATGCTCTCGCTCAGACAGTGCAGCTTGAGCTGGCTCAGCTGGGGCCCGCAGGAGTGGAGAGCGCCAGTGGGGGATGAGAACAAAGTCAGTGCAGGTAGGCTCCGGTCTCAGCCACTTCCCTGTCTTGCTGATGGACCTTGGAAAAATGTCCTGCCCTCTCTGGGACCTTGCTTCCTTTCATGCAGAATGAGGCGGTGGGTGAGATCAGAAGACTTCACCCCCCAGAACTGCCTGGAGACCCCATGTTTTTGACAGATTTTATGACCAAACCTGGTGCACAGACTCCATAATAATTTGCGGCAGGGCGCCGTGGCTCATGCCTGTAATCCCAGCACTTGGGGAGGCCGAGGCAGGTGGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGTGAGTGCCTGTAATCCCTGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCGAAATCGCACCACTGCACTCCAGCCTGGGCTCTAATAGTGAAACTCCGTCTCAAAAAAAAATAATAATTAATCTGCTTTCCTGTTTTTATTAATTAAATATACACACAATAGCTCATCAGCATTTCTGATCAGCCTGATACCCAGGTAAACCAGAGTGGCTATAATCCAACCAAATTTTGGCATTTTGGTTGGACTGTGCACAGGATCTCGTAGAAATGCACATCTGGAAGGCTTTGAGAAGTGGTGAACCTGTTTTCAAGATTTTAAGGTTTTAATAAGATTATGACGATTTTTTTTTTTTTTTTTTTAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGTTCATGGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCGTGCACTACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGTCAGGCTGATCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAATGCAGGTGTGAGCCACCGCACCCGGCCTTGGTTTTGGTTTTTAGGCCATGCTAATCTTCTCTGTATTGTTCCAATTTCAGAATATGGGCTGCCAAAGCAAGCACTAGATACCATTATTAAATTTGGAACATGGGCTTTGTAGTTAAAACAGACAAGTTAGTAGGTGTGGGACCTTGGACGCCTCTTTGAGCCTCACTTTTCCTCATCTGTAAAATGGGGCTTGCTGTACTCACCTCACAGGGAGAGAGTGAGGACTGGACCCAGTACCCATAAGGACCCTGTGTGTGCTCAGTGCTCAGGGAGTGGAGGCCACTGTTAGTTTTTGTTTGTTTTGAGATAAGGTCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGAGCAATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCTATCCTCCCACCTCAGCCTCCCAAGTAGTTGGGACCTCAGGTGTGTGCCACAACAGCTGGCTAATTTTAAAACATTTTTTGTAGAGGCCGGGCCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTCAGACAAGCCTGGCCAACGCAGTGAATCCCCATCTCTATAAAAAATACAAAAATTAGCCCAGTGTGGTGGCGGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCACTTCAACCTGGGAGGCAGAGGTTGCAGTAAGCTGGGATCGCGCTATTGCACTCCAGCCTGGGAGACAAGAGCAAAACTCAATCTCAAAAATGTTTTTTTCTTTTCTTTTCTTTTCTTTTTTAGAGCATGGGTCTCATTATGTAGCCCAGGCTGCTCTCGAACTTCTGGGCTCAAGTGATCCTCCTACCTCGGCCTCCCAAAATTCTAGGATTATAGATGTGAGCCACCATGTCCAG | CACTGCACACAACCAGGCTCTACTCTTTATTGTTACAAAGAACTTATCACATTATATGAGCCTGCTAGGACTGTCATTAGGCAGGTGAGGCCTTTGGGAGGCAATTAGGTCATGAGGGTGGAGCCCTTATATATGGGATTAGTGCCCTTATTAAGGGACTGTGCCTGGCATGGTTGTTCTCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCTTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACTTGGAGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGCATGTTGATGCGTGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAGAAAAAAAAAAAAGGAATGCAGAGAACTTCCTTGTCCCTTCCACCATGCAAGAACACAGCAAGAAAACTCAATCTGTGAGCAAGAATGTGCGCCCTCACCAGACACCCAATCTGCAGGTGCCTTGATCTTGGACTTCCCAGCCTCCAGAACTGTGACATATCAATTCCTGTTGTTTACAAGCCACCCAGTCTGTTTCGTTACAACAGCCCAAACGGACTAAGCCTTCAACATGGGAATCTGGGGGGACACGATTCGTCTATAGCAGCTTCCCACCAGGCTTTCCAAACTGTGTGTTTCCTGTTTATCATATACCCTCCCACCCACTGCACGTCAGCTTCTCACTGCAGGGATCGTGTCTCTGTGGCATCCCAAGTTCCTGGAGGGGCTGCTGGAGGCCCTTGTACATATGTGCAGAGGAAACGCTTGCGTCTGAGGAAGCTCCTGTGGGGCGCCTCACTCCCACTCTCCCCACTCCTCAGACCTTGGGCATGGAAAGTCGGAATCCCTGGGACCAGGTACAAACAGTTTATTTTTCTATAAAGAGCAAAGTACAAAGAGGCAGGGAGGGGAGCTGGGCCCAGGGGAGCAGCCCTGGGCAGGCCCCAAGGCCTTGGCTATGGTGAGGACGACCTGGCAGCTGCCCCAGGAGTAAATGGGCCTCTGGCGTGCAGTGGAGAAAGAGCAGGAGTGGCGAGGAGGAAGCCCACGCCTGCTGCCAGGAGTCATACAAAGCCAGGCTTCATGGATGAGCGGCGGCAGTTGGGACAGCTCCGGGTCCCGTTGTTCTGCAGGCACCTGGGGAGGCAAAGGGCCCTGTCCACTCCCCTGAGGCCTGTCCTTCCCTCCGGGCCCTCTCTTCCTTCCTTGCCTGCCCTCTGCAGGGGCTGGGATGCATCCTGGTGGCTGTTCAGCAGCAGTGGAAGGGAAGGGAACGGTCCCCCCAGGCTCCCACTGCACCCGGCTTGCCCCTCTCCTCCTCTGCCCCAGGGACCTCCAGGGCAGAGCAGGGGCTGGGAGTTGAGAGGATGGGATGGAACCAGACCCACGGCAGGTCTGGCCCTGGACGTCCGACCTAATGACCTTTGAGGGGCCTCTCTGACTCCTCTTTGGGGATTATGAAAAGAATGGCCACAGATCTCAGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGGCTCCCACCACCATGCCTGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGATGATCTTGAACCCCGGGGCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTTGCGAGACAGACGTGAGGCACCACGCCTGGCCAAGGTTAAGTGTTTGCTATTAGTATTATTGCTGTGATTAAGCCAGCTGGGCCCTAGAGTGCCCCGAAGAGATCCTGCCCACCCCTGTCCACCCCCCCAGGAGCCCCCACCTGAGGTGGAAGATGTGGGAGCAAGGTAGGGCCTGCAGCCGGCTGTTCTTCTCGCCTATGGACTCGCCGCACAGGCCGCAGTAGAGCTCCGTCTCCTCCACGCACTCGTGGAACCTCACAACGCTGCAGCCCTTTGCTGCGGTAAATGCTCTCGCTCAGACAGTGCAGCTTGAGCTGGCTCAGCTGGGGCCCGCAGGAGTGGAGAGCGCCAGTGGGGGATGAGAACAAAGTCAGTGCAGGTAGGCTCCGGTCTCAGCCACTTCCCTGTCTTGCTGATGGACCTTGGAAAAATGTCCTGCCCTCTCTGGGACCTTGCTTCCTTTCATGCAGAATGAGGCGGTGGGTGAGATCAGAAGACTTCACCCCCCAGAACTGCCTGGAGACCCCATGTTTTTGACAGATTTTATGACCAAACCTGGTGCACAGACTCCATAATAATTTGCGGCAGGGCGCCGTGGCTCATGCCTGTAATCCCAGCACTTGGGGAGGCCGAGGCAGGTGGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGTGAGTGCCTGTAATCCCTGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCGAAATCGCACCACTGCACTCCAGCCTGGGCTCTAATAGTGAAACTCCGTCTCAAAAAAAAATAATAATTAATCTGCTTTCCTGTTTTTATTAATTAAATATACACACAATAGCTCATCAGCATTTCTGATCAGCCTGATACCCAGGTAAACCAGAGTGGCTATAATCCAACCAAATTTTGGCATTTTGGTTGGACTGTGCACAGGATCTCGTAGAAATGCACATCTGGAAGGCTTTGAGAAGTGGTGAACCTGTTTTCAAGATTTTAAGGTTTTAATAAGATTATGACGATTTTTTTTTTTTTTTTTTTAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGTTCATGGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCGTGCACTACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGTCAGGCTGATCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAATGCAGGTGTGAGCCACCGCACCCGGCCTTGGTTTTGGTTTTTAGGCCATGCTAATCTTCTCTGTATTGTTCCAATTTCAGAATATGGGCTGCCAAAGCAAGCACTAGATACCATTATTAAATTTGGAACATGGGCTTTGTAGTTAAAACAGACAAGTTAGTAGGTGTGGGACCTTGGACGCCTCTTTGAGCCTCACTTTTCCTCATCTGTAAAATGGGGCTTGCTGTACTCACCTCACAGGGAGAGAGTGAGGACTGGACCCAGTACCCATAAGGACCCTGTGTGTGCTCAGTGCTCAGGGAGTGGAGGCCACTGTTAGTTTTTGTTTGTTTTGAGATAAGGTCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGAGCAATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCTATCCTCCCACCTCAGCCTCCCAAGTAGTTGGGACCTCAGGTGTGTGCCACAACAGCTGGCTAATTTTAAAACATTTTTTGTAGAGGCCGGGCCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTCAGACAAGCCTGGCCAACGCAGTGAATCCCCATCTCTATAAAAAATACAAAAATTAGCCCAGTGTGGTGGCGGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCACTTCAACCTGGGAGGCAGAGGTTGCAGTAAGCTGGGATCGCGCTATTGCACTCCAGCCTGGGAGACAAGAGCAAAACTCAATCTCAAAAATGTTTTTTTCTTTTCTTTTCTTTTCTTTTTTAGAGCATGGGTCTCATTATGTAGCCCAGGCTGCTCTCGAACTTCTGGGCTCAAGTGATCCTCCTACCTCGGCCTCCCAAAATTCTAGGATTATAGATGTGAGCCACCATGTCCAGNNNNNNNNNNNNNNNNN | pathogenic | 176,169 |
Is the genetic change at chromosome 11, position 47438904, within gene RAPSN (receptor associated protein of the synapse) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_2'] | TATATGAGCCTGCTAGGACTGTCATTAGGCAGGTGAGGCCTTTGGGAGGCAATTAGGTCATGAGGGTGGAGCCCTTATATATGGGATTAGTGCCCTTATTAAGGGACTGTGCCTGGCATGGTTGTTCTCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCTTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACTTGGAGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGCATGTTGATGCGTGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAGAAAAAAAAAAAAGGAATGCAGAGAACTTCCTTGTCCCTTCCACCATGCAAGAACACAGCAAGAAAACTCAATCTGTGAGCAAGAATGTGCGCCCTCACCAGACACCCAATCTGCAGGTGCCTTGATCTTGGACTTCCCAGCCTCCAGAACTGTGACATATCAATTCCTGTTGTTTACAAGCCACCCAGTCTGTTTCGTTACAACAGCCCAAACGGACTAAGCCTTCAACATGGGAATCTGGGGGGACACGATTCGTCTATAGCAGCTTCCCACCAGGCTTTCCAAACTGTGTGTTTCCTGTTTATCATATACCCTCCCACCCACTGCACGTCAGCTTCTCACTGCAGGGATCGTGTCTCTGTGGCATCCCAAGTTCCTGGAGGGGCTGCTGGAGGCCCTTGTACATATGTGCAGAGGAAACGCTTGCGTCTGAGGAAGCTCCTGTGGGGCGCCTCACTCCCACTCTCCCCACTCCTCAGACCTTGGGCATGGAAAGTCGGAATCCCTGGGACCAGGTACAAACAGTTTATTTTTCTATAAAGAGCAAAGTACAAAGAGGCAGGGAGGGGAGCTGGGCCCAGGGGAGCAGCCCTGGGCAGGCCCCAAGGCCTTGGCTATGGTGAGGACGACCTGGCAGCTGCCCCAGGAGTAAATGGGCCTCTGGCGTGCAGTGGAGAAAGAGCAGGAGTGGCGAGGAGGAAGCCCACGCCTGCTGCCAGGAGTCATACAAAGCCAGGCTTCATGGATGAGCGGCGGCAGTTGGGACAGCTCCGGGTCCCGTTGTTCTGCAGGCACCTGGGGAGGCAAAGGGCCCTGTCCACTCCCCTGAGGCCTGTCCTTCCCTCCGGGCCCTCTCTTCCTTCCTTGCCTGCCCTCTGCAGGGGCTGGGATGCATCCTGGTGGCTGTTCAGCAGCAGTGGAAGGGAAGGGAACGGTCCCCCCAGGCTCCCACTGCACCCGGCTTGCCCCTCTCCTCCTCTGCCCCAGGGACCTCCAGGGCAGAGCAGGGGCTGGGAGTTGAGAGGATGGGATGGAACCAGACCCACGGCAGGTCTGGCCCTGGACGTCCGACCTAATGACCTTTGAGGGGCCTCTCTGACTCCTCTTTGGGGATTATGAAAAGAATGGCCACAGATCTCAGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGGCTCCCACCACCATGCCTGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGATGATCTTGAACCCCGGGGCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTTGCGAGACAGACGTGAGGCACCACGCCTGGCCAAGGTTAAGTGTTTGCTATTAGTATTATTGCTGTGATTAAGCCAGCTGGGCCCTAGAGTGCCCCGAAGAGATCCTGCCCACCCCTGTCCACCCCCCCAGGAGCCCCCACCTGAGGTGGAAGATGTGGGAGCAAGGTAGGGCCTGCAGCCGGCTGTTCTTCTCGCCTATGGACTCGCCGCACAGGCCGCAGTAGAGCTCCGTCTCCTCCACGCACTCGTGGAACCTCACAACGTGCGCCCGCAGTTCCCGCTGCAGCCCTTTGCTGCGGTAAATGCTCTCGCTCAGACAGTGCAGCTTGAGCTGGCTCAGCTGGGGCCCGCAGGAGTGGAGAGCGCCAGTGGGGGATGAGAACAAAGTCAGTGCAGGTAGGCTCCGGTCTCAGCCACTTCCCTGTCTTGCTGATGGACCTTGGAAAAATGTCCTGCCCTCTCTGGGACCTTGCTTCCTTTCATGCAGAATGAGGCGGTGGGTGAGATCAGAAGACTTCACCCCCCAGAACTGCCTGGAGACCCCATGTTTTTGACAGATTTTATGACCAAACCTGGTGCACAGACTCCATAATAATTTGCGGCAGGGCGCCGTGGCTCATGCCTGTAATCCCAGCACTTGGGGAGGCCGAGGCAGGTGGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGTGAGTGCCTGTAATCCCTGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCGAAATCGCACCACTGCACTCCAGCCTGGGCTCTAATAGTGAAACTCCGTCTCAAAAAAAAATAATAATTAATCTGCTTTCCTGTTTTTATTAATTAAATATACACACAATAGCTCATCAGCATTTCTGATCAGCCTGATACCCAGGTAAACCAGAGTGGCTATAATCCAACCAAATTTTGGCATTTTGGTTGGACTGTGCACAGGATCTCGTAGAAATGCACATCTGGAAGGCTTTGAGAAGTGGTGAACCTGTTTTCAAGATTTTAAGGTTTTAATAAGATTATGACGATTTTTTTTTTTTTTTTTTTAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGTTCATGGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCGTGCACTACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGTCAGGCTGATCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAATGCAGGTGTGAGCCACCGCACCCGGCCTTGGTTTTGGTTTTTAGGCCATGCTAATCTTCTCTGTATTGTTCCAATTTCAGAATATGGGCTGCCAAAGCAAGCACTAGATACCATTATTAAATTTGGAACATGGGCTTTGTAGTTAAAACAGACAAGTTAGTAGGTGTGGGACCTTGGACGCCTCTTTGAGCCTCACTTTTCCTCATCTGTAAAATGGGGCTTGCTGTACTCACCTCACAGGGAGAGAGTGAGGACTGGACCCAGTACCCATAAGGACCCTGTGTGTGCTCAGTGCTCAGGGAGTGGAGGCCACTGTTAGTTTTTGTTTGTTTTGAGATAAGGTCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGAGCAATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCTATCCTCCCACCTCAGCCTCCCAAGTAGTTGGGACCTCAGGTGTGTGCCACAACAGCTGGCTAATTTTAAAACATTTTTTGTAGAGGCCGGGCCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTCAGACAAGCCTGGCCAACGCAGTGAATCCCCATCTCTATAAAAAATACAAAAATTAGCCCAGTGTGGTGGCGGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCACTTCAACCTGGGAGGCAGAGGTTGCAGTAAGCTGGGATCGCGCTATTGCACTCCAGCCTGGGAGACAAGAGCAAAACTCAATCTCAAAAATGTTTTTTTCTTTTCTTTTCTTTTCTTTTTTAGAGCATGGGTCTCATTATGTAGCCCAGGCTGCTCTCGAACTTCTGGGCTCAAGTGATCCTCCTACCTCGGCCTCCCAAAATTCTAGGATTATAGATGTGAGCCACCATGTCCAGCCCACTGTTAGGGGTTTTAATCAACATCAGGAAGCTTCTGAGGAATTCTGCT | TATATGAGCCTGCTAGGACTGTCATTAGGCAGGTGAGGCCTTTGGGAGGCAATTAGGTCATGAGGGTGGAGCCCTTATATATGGGATTAGTGCCCTTATTAAGGGACTGTGCCTGGCATGGTTGTTCTCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCTTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACTTGGAGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGCATGTTGATGCGTGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAGAAAAAAAAAAAAGGAATGCAGAGAACTTCCTTGTCCCTTCCACCATGCAAGAACACAGCAAGAAAACTCAATCTGTGAGCAAGAATGTGCGCCCTCACCAGACACCCAATCTGCAGGTGCCTTGATCTTGGACTTCCCAGCCTCCAGAACTGTGACATATCAATTCCTGTTGTTTACAAGCCACCCAGTCTGTTTCGTTACAACAGCCCAAACGGACTAAGCCTTCAACATGGGAATCTGGGGGGACACGATTCGTCTATAGCAGCTTCCCACCAGGCTTTCCAAACTGTGTGTTTCCTGTTTATCATATACCCTCCCACCCACTGCACGTCAGCTTCTCACTGCAGGGATCGTGTCTCTGTGGCATCCCAAGTTCCTGGAGGGGCTGCTGGAGGCCCTTGTACATATGTGCAGAGGAAACGCTTGCGTCTGAGGAAGCTCCTGTGGGGCGCCTCACTCCCACTCTCCCCACTCCTCAGACCTTGGGCATGGAAAGTCGGAATCCCTGGGACCAGGTACAAACAGTTTATTTTTCTATAAAGAGCAAAGTACAAAGAGGCAGGGAGGGGAGCTGGGCCCAGGGGAGCAGCCCTGGGCAGGCCCCAAGGCCTTGGCTATGGTGAGGACGACCTGGCAGCTGCCCCAGGAGTAAATGGGCCTCTGGCGTGCAGTGGAGAAAGAGCAGGAGTGGCGAGGAGGAAGCCCACGCCTGCTGCCAGGAGTCATACAAAGCCAGGCTTCATGGATGAGCGGCGGCAGTTGGGACAGCTCCGGGTCCCGTTGTTCTGCAGGCACCTGGGGAGGCAAAGGGCCCTGTCCACTCCCCTGAGGCCTGTCCTTCCCTCCGGGCCCTCTCTTCCTTCCTTGCCTGCCCTCTGCAGGGGCTGGGATGCATCCTGGTGGCTGTTCAGCAGCAGTGGAAGGGAAGGGAACGGTCCCCCCAGGCTCCCACTGCACCCGGCTTGCCCCTCTCCTCCTCTGCCCCAGGGACCTCCAGGGCAGAGCAGGGGCTGGGAGTTGAGAGGATGGGATGGAACCAGACCCACGGCAGGTCTGGCCCTGGACGTCCGACCTAATGACCTTTGAGGGGCCTCTCTGACTCCTCTTTGGGGATTATGAAAAGAATGGCCACAGATCTCAGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGGCTCCCACCACCATGCCTGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGATGATCTTGAACCCCGGGGCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTTGCGAGACAGACGTGAGGCACCACGCCTGGCCAAGGTTAAGTGTTTGCTATTAGTATTATTGCTGTGATTAAGCCAGCTGGGCCCTAGAGTGCCCCGAAGAGATCCTGCCCACCCCTGTCCACCCCCCCAGGAGCCCCCACCTGAGGTGGAAGATGTGGGAGCAAGGTAGGGCCTGCAGCCGGCTGTTCTTCTCGCCTATGGACTCGCCGCACAGGCCGCAGTAGAGCTCCGTCTCCTCCACGCACTCGTGGAACCTCACAACGTGCGCCCGCAGTTCCCGCTGCAGCCCTTTGCTGCGGTAAATGCTCTCGCTCAGTGCAGCTTGAGCTGGCTCAGCTGGGGCCCGCAGGAGTGGAGAGCGCCAGTGGGGGATGAGAACAAAGTCAGTGCAGGTAGGCTCCGGTCTCAGCCACTTCCCTGTCTTGCTGATGGACCTTGGAAAAATGTCCTGCCCTCTCTGGGACCTTGCTTCCTTTCATGCAGAATGAGGCGGTGGGTGAGATCAGAAGACTTCACCCCCCAGAACTGCCTGGAGACCCCATGTTTTTGACAGATTTTATGACCAAACCTGGTGCACAGACTCCATAATAATTTGCGGCAGGGCGCCGTGGCTCATGCCTGTAATCCCAGCACTTGGGGAGGCCGAGGCAGGTGGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGTGAGTGCCTGTAATCCCTGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCGAAATCGCACCACTGCACTCCAGCCTGGGCTCTAATAGTGAAACTCCGTCTCAAAAAAAAATAATAATTAATCTGCTTTCCTGTTTTTATTAATTAAATATACACACAATAGCTCATCAGCATTTCTGATCAGCCTGATACCCAGGTAAACCAGAGTGGCTATAATCCAACCAAATTTTGGCATTTTGGTTGGACTGTGCACAGGATCTCGTAGAAATGCACATCTGGAAGGCTTTGAGAAGTGGTGAACCTGTTTTCAAGATTTTAAGGTTTTAATAAGATTATGACGATTTTTTTTTTTTTTTTTTTAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGTTCATGGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCGTGCACTACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGTCAGGCTGATCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAATGCAGGTGTGAGCCACCGCACCCGGCCTTGGTTTTGGTTTTTAGGCCATGCTAATCTTCTCTGTATTGTTCCAATTTCAGAATATGGGCTGCCAAAGCAAGCACTAGATACCATTATTAAATTTGGAACATGGGCTTTGTAGTTAAAACAGACAAGTTAGTAGGTGTGGGACCTTGGACGCCTCTTTGAGCCTCACTTTTCCTCATCTGTAAAATGGGGCTTGCTGTACTCACCTCACAGGGAGAGAGTGAGGACTGGACCCAGTACCCATAAGGACCCTGTGTGTGCTCAGTGCTCAGGGAGTGGAGGCCACTGTTAGTTTTTGTTTGTTTTGAGATAAGGTCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGAGCAATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCTATCCTCCCACCTCAGCCTCCCAAGTAGTTGGGACCTCAGGTGTGTGCCACAACAGCTGGCTAATTTTAAAACATTTTTTGTAGAGGCCGGGCCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTCAGACAAGCCTGGCCAACGCAGTGAATCCCCATCTCTATAAAAAATACAAAAATTAGCCCAGTGTGGTGGCGGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCACTTCAACCTGGGAGGCAGAGGTTGCAGTAAGCTGGGATCGCGCTATTGCACTCCAGCCTGGGAGACAAGAGCAAAACTCAATCTCAAAAATGTTTTTTTCTTTTCTTTTCTTTTCTTTTTTAGAGCATGGGTCTCATTATGTAGCCCAGGCTGCTCTCGAACTTCTGGGCTCAAGTGATCCTCCTACCTCGGCCTCCCAAAATTCTAGGATTATAGATGTGAGCCACCATGTCCAGCCCACTGTTAGGGGTTTTAATCAACATCAGGAAGCTTCTGAGGAATTCTGCTNNNN | pathogenic | 176,171 |
Gene RAPSN (receptor associated protein of the synapse) variant at chromosome 11, position 47441157—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Congenital_myasthenic_syndrome', 'Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_2'] | CACCCCCCAGAACTGCCTGGAGACCCCATGTTTTTGACAGATTTTATGACCAAACCTGGTGCACAGACTCCATAATAATTTGCGGCAGGGCGCCGTGGCTCATGCCTGTAATCCCAGCACTTGGGGAGGCCGAGGCAGGTGGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGTGAGTGCCTGTAATCCCTGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCGAAATCGCACCACTGCACTCCAGCCTGGGCTCTAATAGTGAAACTCCGTCTCAAAAAAAAATAATAATTAATCTGCTTTCCTGTTTTTATTAATTAAATATACACACAATAGCTCATCAGCATTTCTGATCAGCCTGATACCCAGGTAAACCAGAGTGGCTATAATCCAACCAAATTTTGGCATTTTGGTTGGACTGTGCACAGGATCTCGTAGAAATGCACATCTGGAAGGCTTTGAGAAGTGGTGAACCTGTTTTCAAGATTTTAAGGTTTTAATAAGATTATGACGATTTTTTTTTTTTTTTTTTTAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGTTCATGGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCGTGCACTACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGTCAGGCTGATCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAATGCAGGTGTGAGCCACCGCACCCGGCCTTGGTTTTGGTTTTTAGGCCATGCTAATCTTCTCTGTATTGTTCCAATTTCAGAATATGGGCTGCCAAAGCAAGCACTAGATACCATTATTAAATTTGGAACATGGGCTTTGTAGTTAAAACAGACAAGTTAGTAGGTGTGGGACCTTGGACGCCTCTTTGAGCCTCACTTTTCCTCATCTGTAAAATGGGGCTTGCTGTACTCACCTCACAGGGAGAGAGTGAGGACTGGACCCAGTACCCATAAGGACCCTGTGTGTGCTCAGTGCTCAGGGAGTGGAGGCCACTGTTAGTTTTTGTTTGTTTTGAGATAAGGTCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGAGCAATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCTATCCTCCCACCTCAGCCTCCCAAGTAGTTGGGACCTCAGGTGTGTGCCACAACAGCTGGCTAATTTTAAAACATTTTTTGTAGAGGCCGGGCCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTCAGACAAGCCTGGCCAACGCAGTGAATCCCCATCTCTATAAAAAATACAAAAATTAGCCCAGTGTGGTGGCGGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCACTTCAACCTGGGAGGCAGAGGTTGCAGTAAGCTGGGATCGCGCTATTGCACTCCAGCCTGGGAGACAAGAGCAAAACTCAATCTCAAAAATGTTTTTTTCTTTTCTTTTCTTTTCTTTTTTAGAGCATGGGTCTCATTATGTAGCCCAGGCTGCTCTCGAACTTCTGGGCTCAAGTGATCCTCCTACCTCGGCCTCCCAAAATTCTAGGATTATAGATGTGAGCCACCATGTCCAGCCCACTGTTAGGGGTTTTAATCAACATCAGGAAGCTTCTGAGGAATTCTGCTATCCTCCAAGCTATGAAACTTCTGCCCTGCCCTCAGAAGTGCTGTGTGTGTGGCAGAGAAAGAGCCAGAGTATGGGGTTGGCTGCAGGCAGCTCCCAGCATCAGGAAGGGCTCATGACGTGAGTAGGCTCAGGAAGGCCCTTCCCCAGACCCAAGTTCCCCACTTGGGCCCTTGACCCCAGATCCAGGACACAGAATCAAGTCTGACCTTGTTCCCCACCTCCTCGGCCAGATCCTGGGCTCTCTCGATGGCATCCAGAGCCTGGAAGGTGAGCATAGGCCAGGGCTGCGGGCAGAGCTGTCTGACAGGCCTTGCTCACAGGGAAGCACAGGGTAGGGGGGCAGGCCTAGGGAGGGTGACATGGCAGCTGCCTTGTGTGTGAAGGCAGCAGGAAGAGACTAGGGCACAGTCATAGGGGCTGTGTGGGCAAGTGACCTCCTGCCTCAGTTTACCCAGGGTTCCAGCCCTTTACTAGCTGTGGGTCCTAGGGCAAGTGATGGGCCTTCTCTGAGCCTGGAAAATGACCAGGAATGTCCTGGCCTCGTAGGATCAGGGTGAGGCTGACGTCAGACAAAGTGGCTGAAAGAGCCGGCTAACCTACTGGCCCCAAGTGGGGAGTGCTGGGAGGGCTGGAGGCTGTGGGAAAGGCCCGACCTCACCTTGTCCAGCGCCTTCCTGGCCACCCAGCACTTGGCCACACCCAGCAGCGCCTGCACCTGCCCCAGGCGGTTTCCGATCTCGGTCATGATGCTCATGGCGGAGTCGTACCTGGGGAAGGCTGTCTGCAGAGCCAGGTGGGGGATGGAATCAGGCTGTATCAGGCCTGTGCCCCTGCCCCCTGCCCCCAGCCCCTGCATCCCGGTGACCTCACCTCCAGGTCCCCACGGCTCCGGTGGATGTCAGCGAAGCAGAGCAGGCAGAGCGCCTGCAGTGGCCGGTCCCCGTGCTGCAGCGCGATCTTCATAGACTCCTGCGAGGGAGGCCAGTGGCTCAGGCCTACTCCTCTGCCACCACCACTGGAGTGCCCTCCCCTCAACAGACCCCTCTGAAGGGACAGCCCAGGGAAGCAACATCCTCAGAGCCTAGTGAATCTATCATGGTGCTGAGGGCTCACACACTGAACCACTGAAGTCACAGCACCCAGCAAGGTGGGTGGAAAGTGAGGCTCAAAGAGAAGTGACTTGATTGGGGTCACCCAGTAAGTGACAAAGCTGGGATGTGAACCCAGGTCAGTGGGACTCCAGAAACTGGCCCTCTTCCGTCTCTACCCTTCAAAGTACCCCATATAGGGTGTTGGGGCAGAAGGAAGCCCCCTCCCCTGCAGATGGATTGGAAGGGAGTGGGTTTGGGATGAGGCTGGGGGACAAATGTTTCCTTCAGGGGTTCAGCTGTAGAGAACTCATCTCATTTAAAAAATAAAAACTGGGCCAGGCACAAGTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCAAGACACGAGGATCGCTTCAGCACAGGAGGGTGGTTTAGTGAGACCCCGTCTCTACAAAAATAAAATTAGCTGTGCATGGTGGTGCACGCCTTTAGAGAGGCTGGGCCAGAGGCAAGCCCTAGGGGGCTTCCATGGGCTGATTTGGAAGAAGGAAGCCCTGCTGTCCCAGGCCCCAGCCCCTGGCCCACACCACCTCATCCCCGACCTGCCCCCTTCCCCGCTGCCCCACCTCACAACACTCCATGGCACTGCCCAGGCGGCCCAGCAGGCGATAGGCCACGGCCATGTGGTACTGGCTCATGGCCCGGTACTTCAGGCTCCAGCCTTTGCCATAGTTGTTGACAAGCTCTGCCGCCTTGCAGGGGAAGAACAGGGCTTTCTCGTAGTCCTGCAGGGGACATGGAATGGAAGGAGGCAAACTGAGTGGCAGAGGCTGCCCCAAGTCAAGGGCTCCTGGGCTAGGTTTCTCTAACAGCAGGTAGGGGCAGGGGGCCCGAGTGTCTGCTCATTCATTGTGACATCCAGGACAAGAGTGGCCCGGTAGAGGGAACAGCCAGTGCAAAGGTGTCGCTCTGTGGACTCAGGGATTCTCATCTGGTTTGTGACGCATCCCAAGAGCCTAGCACAGTTCTTGGCACTTGGTAGATGCACAATAAATATTTGTTGAGTGAATGAATGAAAAGACAAGAAAACACAGTTGGCTTCTCTTTTCTCCCAATGCCAAATGGGCTCCTCAGCTTCAGAGATGCACAGGGATGGGAGATACCAGATCCCTCCA | CACCCCCCAGAACTGCCTGGAGACCCCATGTTTTTGACAGATTTTATGACCAAACCTGGTGCACAGACTCCATAATAATTTGCGGCAGGGCGCCGTGGCTCATGCCTGTAATCCCAGCACTTGGGGAGGCCGAGGCAGGTGGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGTGAGTGCCTGTAATCCCTGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCGAAATCGCACCACTGCACTCCAGCCTGGGCTCTAATAGTGAAACTCCGTCTCAAAAAAAAATAATAATTAATCTGCTTTCCTGTTTTTATTAATTAAATATACACACAATAGCTCATCAGCATTTCTGATCAGCCTGATACCCAGGTAAACCAGAGTGGCTATAATCCAACCAAATTTTGGCATTTTGGTTGGACTGTGCACAGGATCTCGTAGAAATGCACATCTGGAAGGCTTTGAGAAGTGGTGAACCTGTTTTCAAGATTTTAAGGTTTTAATAAGATTATGACGATTTTTTTTTTTTTTTTTTTAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGTTCATGGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCGTGCACTACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGTCAGGCTGATCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAATGCAGGTGTGAGCCACCGCACCCGGCCTTGGTTTTGGTTTTTAGGCCATGCTAATCTTCTCTGTATTGTTCCAATTTCAGAATATGGGCTGCCAAAGCAAGCACTAGATACCATTATTAAATTTGGAACATGGGCTTTGTAGTTAAAACAGACAAGTTAGTAGGTGTGGGACCTTGGACGCCTCTTTGAGCCTCACTTTTCCTCATCTGTAAAATGGGGCTTGCTGTACTCACCTCACAGGGAGAGAGTGAGGACTGGACCCAGTACCCATAAGGACCCTGTGTGTGCTCAGTGCTCAGGGAGTGGAGGCCACTGTTAGTTTTTGTTTGTTTTGAGATAAGGTCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGAGCAATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCTATCCTCCCACCTCAGCCTCCCAAGTAGTTGGGACCTCAGGTGTGTGCCACAACAGCTGGCTAATTTTAAAACATTTTTTGTAGAGGCCGGGCCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTCAGACAAGCCTGGCCAACGCAGTGAATCCCCATCTCTATAAAAAATACAAAAATTAGCCCAGTGTGGTGGCGGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCACTTCAACCTGGGAGGCAGAGGTTGCAGTAAGCTGGGATCGCGCTATTGCACTCCAGCCTGGGAGACAAGAGCAAAACTCAATCTCAAAAATGTTTTTTTCTTTTCTTTTCTTTTCTTTTTTAGAGCATGGGTCTCATTATGTAGCCCAGGCTGCTCTCGAACTTCTGGGCTCAAGTGATCCTCCTACCTCGGCCTCCCAAAATTCTAGGATTATAGATGTGAGCCACCATGTCCAGCCCACTGTTAGGGGTTTTAATCAACATCAGGAAGCTTCTGAGGAATTCTGCTATCCTCCAAGCTATGAAACTTCTGCCCTGCCCTCAGAAGTGCTGTGTGTGTGGCAGAGAAAGAGCCAGAGTATGGGGTTGGCTGCAGGCAGCTCCCAGCATCAGGAAGGGCTCATGACGTGAGTAGGCTCAGGAAGGCCCTTCCCCAGACCCAAGTTCCCCACTTGGGCCCTTGACCCCAGATCCAGGACACAGAATCAAGTCTGCTCTTGTTCCCCACCTCCTCGGCCAGATCCTGGGCTCTCTCGATGGCATCCAGAGCCTGGAAGGTGAGCATAGGCCAGGGCTGCGGGCAGAGCTGTCTGACAGGCCTTGCTCACAGGGAAGCACAGGGTAGGGGGGCAGGCCTAGGGAGGGTGACATGGCAGCTGCCTTGTGTGTGAAGGCAGCAGGAAGAGACTAGGGCACAGTCATAGGGGCTGTGTGGGCAAGTGACCTCCTGCCTCAGTTTACCCAGGGTTCCAGCCCTTTACTAGCTGTGGGTCCTAGGGCAAGTGATGGGCCTTCTCTGAGCCTGGAAAATGACCAGGAATGTCCTGGCCTCGTAGGATCAGGGTGAGGCTGACGTCAGACAAAGTGGCTGAAAGAGCCGGCTAACCTACTGGCCCCAAGTGGGGAGTGCTGGGAGGGCTGGAGGCTGTGGGAAAGGCCCGACCTCACCTTGTCCAGCGCCTTCCTGGCCACCCAGCACTTGGCCACACCCAGCAGCGCCTGCACCTGCCCCAGGCGGTTTCCGATCTCGGTCATGATGCTCATGGCGGAGTCGTACCTGGGGAAGGCTGTCTGCAGAGCCAGGTGGGGGATGGAATCAGGCTGTATCAGGCCTGTGCCCCTGCCCCCTGCCCCCAGCCCCTGCATCCCGGTGACCTCACCTCCAGGTCCCCACGGCTCCGGTGGATGTCAGCGAAGCAGAGCAGGCAGAGCGCCTGCAGTGGCCGGTCCCCGTGCTGCAGCGCGATCTTCATAGACTCCTGCGAGGGAGGCCAGTGGCTCAGGCCTACTCCTCTGCCACCACCACTGGAGTGCCCTCCCCTCAACAGACCCCTCTGAAGGGACAGCCCAGGGAAGCAACATCCTCAGAGCCTAGTGAATCTATCATGGTGCTGAGGGCTCACACACTGAACCACTGAAGTCACAGCACCCAGCAAGGTGGGTGGAAAGTGAGGCTCAAAGAGAAGTGACTTGATTGGGGTCACCCAGTAAGTGACAAAGCTGGGATGTGAACCCAGGTCAGTGGGACTCCAGAAACTGGCCCTCTTCCGTCTCTACCCTTCAAAGTACCCCATATAGGGTGTTGGGGCAGAAGGAAGCCCCCTCCCCTGCAGATGGATTGGAAGGGAGTGGGTTTGGGATGAGGCTGGGGGACAAATGTTTCCTTCAGGGGTTCAGCTGTAGAGAACTCATCTCATTTAAAAAATAAAAACTGGGCCAGGCACAAGTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCAAGACACGAGGATCGCTTCAGCACAGGAGGGTGGTTTAGTGAGACCCCGTCTCTACAAAAATAAAATTAGCTGTGCATGGTGGTGCACGCCTTTAGAGAGGCTGGGCCAGAGGCAAGCCCTAGGGGGCTTCCATGGGCTGATTTGGAAGAAGGAAGCCCTGCTGTCCCAGGCCCCAGCCCCTGGCCCACACCACCTCATCCCCGACCTGCCCCCTTCCCCGCTGCCCCACCTCACAACACTCCATGGCACTGCCCAGGCGGCCCAGCAGGCGATAGGCCACGGCCATGTGGTACTGGCTCATGGCCCGGTACTTCAGGCTCCAGCCTTTGCCATAGTTGTTGACAAGCTCTGCCGCCTTGCAGGGGAAGAACAGGGCTTTCTCGTAGTCCTGCAGGGGACATGGAATGGAAGGAGGCAAACTGAGTGGCAGAGGCTGCCCCAAGTCAAGGGCTCCTGGGCTAGGTTTCTCTAACAGCAGGTAGGGGCAGGGGGCCCGAGTGTCTGCTCATTCATTGTGACATCCAGGACAAGAGTGGCCCGGTAGAGGGAACAGCCAGTGCAAAGGTGTCGCTCTGTGGACTCAGGGATTCTCATCTGGTTTGTGACGCATCCCAAGAGCCTAGCACAGTTCTTGGCACTTGGTAGATGCACAATAAATATTTGTTGAGTGAATGAATGAAAAGACAAGAAAACACAGTTGGCTTCTCTTTTCTCCCAATGCCAAATGGGCTCCTCAGCTTCAGAGATGCACAGGGATGGGAGATACCAGATCCCTCCA | pathogenic | 176,172 |
A genetic alteration at chromosome 11, position 47441931, in gene RAPSN (receptor associated protein of the synapse)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGTCAGGCTGATCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAATGCAGGTGTGAGCCACCGCACCCGGCCTTGGTTTTGGTTTTTAGGCCATGCTAATCTTCTCTGTATTGTTCCAATTTCAGAATATGGGCTGCCAAAGCAAGCACTAGATACCATTATTAAATTTGGAACATGGGCTTTGTAGTTAAAACAGACAAGTTAGTAGGTGTGGGACCTTGGACGCCTCTTTGAGCCTCACTTTTCCTCATCTGTAAAATGGGGCTTGCTGTACTCACCTCACAGGGAGAGAGTGAGGACTGGACCCAGTACCCATAAGGACCCTGTGTGTGCTCAGTGCTCAGGGAGTGGAGGCCACTGTTAGTTTTTGTTTGTTTTGAGATAAGGTCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGAGCAATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCTATCCTCCCACCTCAGCCTCCCAAGTAGTTGGGACCTCAGGTGTGTGCCACAACAGCTGGCTAATTTTAAAACATTTTTTGTAGAGGCCGGGCCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTCAGACAAGCCTGGCCAACGCAGTGAATCCCCATCTCTATAAAAAATACAAAAATTAGCCCAGTGTGGTGGCGGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCACTTCAACCTGGGAGGCAGAGGTTGCAGTAAGCTGGGATCGCGCTATTGCACTCCAGCCTGGGAGACAAGAGCAAAACTCAATCTCAAAAATGTTTTTTTCTTTTCTTTTCTTTTCTTTTTTAGAGCATGGGTCTCATTATGTAGCCCAGGCTGCTCTCGAACTTCTGGGCTCAAGTGATCCTCCTACCTCGGCCTCCCAAAATTCTAGGATTATAGATGTGAGCCACCATGTCCAGCCCACTGTTAGGGGTTTTAATCAACATCAGGAAGCTTCTGAGGAATTCTGCTATCCTCCAAGCTATGAAACTTCTGCCCTGCCCTCAGAAGTGCTGTGTGTGTGGCAGAGAAAGAGCCAGAGTATGGGGTTGGCTGCAGGCAGCTCCCAGCATCAGGAAGGGCTCATGACGTGAGTAGGCTCAGGAAGGCCCTTCCCCAGACCCAAGTTCCCCACTTGGGCCCTTGACCCCAGATCCAGGACACAGAATCAAGTCTGACCTTGTTCCCCACCTCCTCGGCCAGATCCTGGGCTCTCTCGATGGCATCCAGAGCCTGGAAGGTGAGCATAGGCCAGGGCTGCGGGCAGAGCTGTCTGACAGGCCTTGCTCACAGGGAAGCACAGGGTAGGGGGGCAGGCCTAGGGAGGGTGACATGGCAGCTGCCTTGTGTGTGAAGGCAGCAGGAAGAGACTAGGGCACAGTCATAGGGGCTGTGTGGGCAAGTGACCTCCTGCCTCAGTTTACCCAGGGTTCCAGCCCTTTACTAGCTGTGGGTCCTAGGGCAAGTGATGGGCCTTCTCTGAGCCTGGAAAATGACCAGGAATGTCCTGGCCTCGTAGGATCAGGGTGAGGCTGACGTCAGACAAAGTGGCTGAAAGAGCCGGCTAACCTACTGGCCCCAAGTGGGGAGTGCTGGGAGGGCTGGAGGCTGTGGGAAAGGCCCGACCTCACCTTGTCCAGCGCCTTCCTGGCCACCCAGCACTTGGCCACACCCAGCAGCGCCTGCACCTGCCCCAGGCGGTTTCCGATCTCGGTCATGATGCTCATGGCGGAGTCGTACCTGGGGAAGGCTGTCTGCAGAGCCAGGTGGGGGATGGAATCAGGCTGTATCAGGCCTGTGCCCCTGCCCCCTGCCCCCAGCCCCTGCATCCCGGTGACCTCACCTCCAGGTCCCCACGGCTCCGGTGGATGTCAGCGAAGCAGAGCAGGCAGAGCGCCTGCAGTGGCCGGTCCCCGTGCTGCAGCGCGATCTTCATAGACTCCTGCGAGGGAGGCCAGTGGCTCAGGCCTACTCCTCTGCCACCACCACTGGAGTGCCCTCCCCTCAACAGACCCCTCTGAAGGGACAGCCCAGGGAAGCAACATCCTCAGAGCCTAGTGAATCTATCATGGTGCTGAGGGCTCACACACTGAACCACTGAAGTCACAGCACCCAGCAAGGTGGGTGGAAAGTGAGGCTCAAAGAGAAGTGACTTGATTGGGGTCACCCAGTAAGTGACAAAGCTGGGATGTGAACCCAGGTCAGTGGGACTCCAGAAACTGGCCCTCTTCCGTCTCTACCCTTCAAAGTACCCCATATAGGGTGTTGGGGCAGAAGGAAGCCCCCTCCCCTGCAGATGGATTGGAAGGGAGTGGGTTTGGGATGAGGCTGGGGGACAAATGTTTCCTTCAGGGGTTCAGCTGTAGAGAACTCATCTCATTTAAAAAATAAAAACTGGGCCAGGCACAAGTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCAAGACACGAGGATCGCTTCAGCACAGGAGGGTGGTTTAGTGAGACCCCGTCTCTACAAAAATAAAATTAGCTGTGCATGGTGGTGCACGCCTTTAGAGAGGCTGGGCCAGAGGCAAGCCCTAGGGGGCTTCCATGGGCTGATTTGGAAGAAGGAAGCCCTGCTGTCCCAGGCCCCAGCCCCTGGCCCACACCACCTCATCCCCGACCTGCCCCCTTCCCCGCTGCCCCACCTCACAACACTCCATGGCACTGCCCAGGCGGCCCAGCAGGCGATAGGCCACGGCCATGTGGTACTGGCTCATGGCCCGGTACTTCAGGCTCCAGCCTTTGCCATAGTTGTTGACAAGCTCTGCCGCCTTGCAGGGGAAGAACAGGGCTTTCTCGTAGTCCTGCAGGGGACATGGAATGGAAGGAGGCAAACTGAGTGGCAGAGGCTGCCCCAAGTCAAGGGCTCCTGGGCTAGGTTTCTCTAACAGCAGGTAGGGGCAGGGGGCCCGAGTGTCTGCTCATTCATTGTGACATCCAGGACAAGAGTGGCCCGGTAGAGGGAACAGCCAGTGCAAAGGTGTCGCTCTGTGGACTCAGGGATTCTCATCTGGTTTGTGACGCATCCCAAGAGCCTAGCACAGTTCTTGGCACTTGGTAGATGCACAATAAATATTTGTTGAGTGAATGAATGAAAAGACAAGAAAACACAGTTGGCTTCTCTTTTCTCCCAATGCCAAATGGGCTCCTCAGCTTCAGAGATGCACAGGGATGGGAGATACCAGATCCCTCCACTAGAGCTTGCCTGCTGGCACCCGGAAGCAGGTGTTCACTGAAGCTCAGTGGCAGACTGGCAGCACAACAGGCTCAAAAGAACATCAGACAGACTCAGCGAGGCGATGCAACCATTGGCTTGTACTTTTTCCTCAAGCTTCCAAATGCATTTTCTACCTGCTCATGGTCAGCTGATGACCTCGCCTCAACTCCACGAGGAAAAGGAAGAAAATCAGGGAGAAGCTCCTTCCCCTCCTGTCTCCACCAGATCTCCCATCTCCGCACCTCTGCTCCCACGCTCCCTGCCTCCTTTCCTGTCACTGTGGAGGATGGCTCCTGTTCCCATCAAATGCCAGCCTCCGATGAGCAGTCTCTGCATCGTCAGGTCCTCTCTTTCTACAGAATCTTTCCCATCCACGTGCAAACATGTCTGGCATTTCTCATCTCATTTAAAAAATAAAAACTGGGCCAGGCACAGTGGTTCACGCCTGGAATCCCAGCACTTTGGGAGGCCAAGACAGGAGGAACGCTTGAGCATAGGAGTTGGAGAATGGCCTGGGCAACTTAGTGAGACCCTGTCTCTACAAAAATAAAATCAGCTGTGCATAGTGGTGCACGCCTGTAGTTCCAAGCTACTCAAGAGGCTGAGGTGGGAGAATCACTTGAGCACAGGAGGTCGAGGATATGGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGGCAGACTCTGTCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAG | TTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGTCAGGCTGATCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAATGCAGGTGTGAGCCACCGCACCCGGCCTTGGTTTTGGTTTTTAGGCCATGCTAATCTTCTCTGTATTGTTCCAATTTCAGAATATGGGCTGCCAAAGCAAGCACTAGATACCATTATTAAATTTGGAACATGGGCTTTGTAGTTAAAACAGACAAGTTAGTAGGTGTGGGACCTTGGACGCCTCTTTGAGCCTCACTTTTCCTCATCTGTAAAATGGGGCTTGCTGTACTCACCTCACAGGGAGAGAGTGAGGACTGGACCCAGTACCCATAAGGACCCTGTGTGTGCTCAGTGCTCAGGGAGTGGAGGCCACTGTTAGTTTTTGTTTGTTTTGAGATAAGGTCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGAGCAATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCTATCCTCCCACCTCAGCCTCCCAAGTAGTTGGGACCTCAGGTGTGTGCCACAACAGCTGGCTAATTTTAAAACATTTTTTGTAGAGGCCGGGCCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTCAGACAAGCCTGGCCAACGCAGTGAATCCCCATCTCTATAAAAAATACAAAAATTAGCCCAGTGTGGTGGCGGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCACTTCAACCTGGGAGGCAGAGGTTGCAGTAAGCTGGGATCGCGCTATTGCACTCCAGCCTGGGAGACAAGAGCAAAACTCAATCTCAAAAATGTTTTTTTCTTTTCTTTTCTTTTCTTTTTTAGAGCATGGGTCTCATTATGTAGCCCAGGCTGCTCTCGAACTTCTGGGCTCAAGTGATCCTCCTACCTCGGCCTCCCAAAATTCTAGGATTATAGATGTGAGCCACCATGTCCAGCCCACTGTTAGGGGTTTTAATCAACATCAGGAAGCTTCTGAGGAATTCTGCTATCCTCCAAGCTATGAAACTTCTGCCCTGCCCTCAGAAGTGCTGTGTGTGTGGCAGAGAAAGAGCCAGAGTATGGGGTTGGCTGCAGGCAGCTCCCAGCATCAGGAAGGGCTCATGACGTGAGTAGGCTCAGGAAGGCCCTTCCCCAGACCCAAGTTCCCCACTTGGGCCCTTGACCCCAGATCCAGGACACAGAATCAAGTCTGACCTTGTTCCCCACCTCCTCGGCCAGATCCTGGGCTCTCTCGATGGCATCCAGAGCCTGGAAGGTGAGCATAGGCCAGGGCTGCGGGCAGAGCTGTCTGACAGGCCTTGCTCACAGGGAAGCACAGGGTAGGGGGGCAGGCCTAGGGAGGGTGACATGGCAGCTGCCTTGTGTGTGAAGGCAGCAGGAAGAGACTAGGGCACAGTCATAGGGGCTGTGTGGGCAAGTGACCTCCTGCCTCAGTTTACCCAGGGTTCCAGCCCTTTACTAGCTGTGGGTCCTAGGGCAAGTGATGGGCCTTCTCTGAGCCTGGAAAATGACCAGGAATGTCCTGGCCTCGTAGGATCAGGGTGAGGCTGACGTCAGACAAAGTGGCTGAAAGAGCCGGCTAACCTACTGGCCCCAAGTGGGGAGTGCTGGGAGGGCTGGAGGCTGTGGGAAAGGCCCGACCTCACCTTGTCCAGCGCCTTCCTGGCCACCCAGCACTTGGCCACACCCAGCAGCGCCTGCACCTGCCCCAGGCGGTTTCCGATCTCGGTCATGATGCTCATGGCGGAGTCGTACCTGGGGAAGGCTGTCTGCAGAGCCAGGTGGGGGATGGAATCAGGCTGTATCAGGCCTGTGCCCCTGCCCCCTGCCCCCAGCCCCTGCATCCCGGTGACCTCACCTCCAGGTCCCCACGGCTCCGGTGGATGTCAGCGAAGCAGAGCAGGCAGAGCGCCTGCAGTGGCCGGTCCCCGTGCTGCAGCGCGATCTTCATAGACTCCTGCGAGGGAGCCAGTGGCTCAGGCCTACTCCTCTGCCACCACCACTGGAGTGCCCTCCCCTCAACAGACCCCTCTGAAGGGACAGCCCAGGGAAGCAACATCCTCAGAGCCTAGTGAATCTATCATGGTGCTGAGGGCTCACACACTGAACCACTGAAGTCACAGCACCCAGCAAGGTGGGTGGAAAGTGAGGCTCAAAGAGAAGTGACTTGATTGGGGTCACCCAGTAAGTGACAAAGCTGGGATGTGAACCCAGGTCAGTGGGACTCCAGAAACTGGCCCTCTTCCGTCTCTACCCTTCAAAGTACCCCATATAGGGTGTTGGGGCAGAAGGAAGCCCCCTCCCCTGCAGATGGATTGGAAGGGAGTGGGTTTGGGATGAGGCTGGGGGACAAATGTTTCCTTCAGGGGTTCAGCTGTAGAGAACTCATCTCATTTAAAAAATAAAAACTGGGCCAGGCACAAGTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCAAGACACGAGGATCGCTTCAGCACAGGAGGGTGGTTTAGTGAGACCCCGTCTCTACAAAAATAAAATTAGCTGTGCATGGTGGTGCACGCCTTTAGAGAGGCTGGGCCAGAGGCAAGCCCTAGGGGGCTTCCATGGGCTGATTTGGAAGAAGGAAGCCCTGCTGTCCCAGGCCCCAGCCCCTGGCCCACACCACCTCATCCCCGACCTGCCCCCTTCCCCGCTGCCCCACCTCACAACACTCCATGGCACTGCCCAGGCGGCCCAGCAGGCGATAGGCCACGGCCATGTGGTACTGGCTCATGGCCCGGTACTTCAGGCTCCAGCCTTTGCCATAGTTGTTGACAAGCTCTGCCGCCTTGCAGGGGAAGAACAGGGCTTTCTCGTAGTCCTGCAGGGGACATGGAATGGAAGGAGGCAAACTGAGTGGCAGAGGCTGCCCCAAGTCAAGGGCTCCTGGGCTAGGTTTCTCTAACAGCAGGTAGGGGCAGGGGGCCCGAGTGTCTGCTCATTCATTGTGACATCCAGGACAAGAGTGGCCCGGTAGAGGGAACAGCCAGTGCAAAGGTGTCGCTCTGTGGACTCAGGGATTCTCATCTGGTTTGTGACGCATCCCAAGAGCCTAGCACAGTTCTTGGCACTTGGTAGATGCACAATAAATATTTGTTGAGTGAATGAATGAAAAGACAAGAAAACACAGTTGGCTTCTCTTTTCTCCCAATGCCAAATGGGCTCCTCAGCTTCAGAGATGCACAGGGATGGGAGATACCAGATCCCTCCACTAGAGCTTGCCTGCTGGCACCCGGAAGCAGGTGTTCACTGAAGCTCAGTGGCAGACTGGCAGCACAACAGGCTCAAAAGAACATCAGACAGACTCAGCGAGGCGATGCAACCATTGGCTTGTACTTTTTCCTCAAGCTTCCAAATGCATTTTCTACCTGCTCATGGTCAGCTGATGACCTCGCCTCAACTCCACGAGGAAAAGGAAGAAAATCAGGGAGAAGCTCCTTCCCCTCCTGTCTCCACCAGATCTCCCATCTCCGCACCTCTGCTCCCACGCTCCCTGCCTCCTTTCCTGTCACTGTGGAGGATGGCTCCTGTTCCCATCAAATGCCAGCCTCCGATGAGCAGTCTCTGCATCGTCAGGTCCTCTCTTTCTACAGAATCTTTCCCATCCACGTGCAAACATGTCTGGCATTTCTCATCTCATTTAAAAAATAAAAACTGGGCCAGGCACAGTGGTTCACGCCTGGAATCCCAGCACTTTGGGAGGCCAAGACAGGAGGAACGCTTGAGCATAGGAGTTGGAGAATGGCCTGGGCAACTTAGTGAGACCCTGTCTCTACAAAAATAAAATCAGCTGTGCATAGTGGTGCACGCCTGTAGTTCCAAGCTACTCAAGAGGCTGAGGTGGGAGAATCACTTGAGCACAGGAGGTCGAGGATATGGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGGCAGACTCTGTCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGN | benign | 176,185 |
The chromosome 11, position 47442792 genetic variant in gene RAPSN (receptor associated protein of the synapse): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_2', 'RAPSN-related_disorder'] | ATCTCAAAAATGTTTTTTTCTTTTCTTTTCTTTTCTTTTTTAGAGCATGGGTCTCATTATGTAGCCCAGGCTGCTCTCGAACTTCTGGGCTCAAGTGATCCTCCTACCTCGGCCTCCCAAAATTCTAGGATTATAGATGTGAGCCACCATGTCCAGCCCACTGTTAGGGGTTTTAATCAACATCAGGAAGCTTCTGAGGAATTCTGCTATCCTCCAAGCTATGAAACTTCTGCCCTGCCCTCAGAAGTGCTGTGTGTGTGGCAGAGAAAGAGCCAGAGTATGGGGTTGGCTGCAGGCAGCTCCCAGCATCAGGAAGGGCTCATGACGTGAGTAGGCTCAGGAAGGCCCTTCCCCAGACCCAAGTTCCCCACTTGGGCCCTTGACCCCAGATCCAGGACACAGAATCAAGTCTGACCTTGTTCCCCACCTCCTCGGCCAGATCCTGGGCTCTCTCGATGGCATCCAGAGCCTGGAAGGTGAGCATAGGCCAGGGCTGCGGGCAGAGCTGTCTGACAGGCCTTGCTCACAGGGAAGCACAGGGTAGGGGGGCAGGCCTAGGGAGGGTGACATGGCAGCTGCCTTGTGTGTGAAGGCAGCAGGAAGAGACTAGGGCACAGTCATAGGGGCTGTGTGGGCAAGTGACCTCCTGCCTCAGTTTACCCAGGGTTCCAGCCCTTTACTAGCTGTGGGTCCTAGGGCAAGTGATGGGCCTTCTCTGAGCCTGGAAAATGACCAGGAATGTCCTGGCCTCGTAGGATCAGGGTGAGGCTGACGTCAGACAAAGTGGCTGAAAGAGCCGGCTAACCTACTGGCCCCAAGTGGGGAGTGCTGGGAGGGCTGGAGGCTGTGGGAAAGGCCCGACCTCACCTTGTCCAGCGCCTTCCTGGCCACCCAGCACTTGGCCACACCCAGCAGCGCCTGCACCTGCCCCAGGCGGTTTCCGATCTCGGTCATGATGCTCATGGCGGAGTCGTACCTGGGGAAGGCTGTCTGCAGAGCCAGGTGGGGGATGGAATCAGGCTGTATCAGGCCTGTGCCCCTGCCCCCTGCCCCCAGCCCCTGCATCCCGGTGACCTCACCTCCAGGTCCCCACGGCTCCGGTGGATGTCAGCGAAGCAGAGCAGGCAGAGCGCCTGCAGTGGCCGGTCCCCGTGCTGCAGCGCGATCTTCATAGACTCCTGCGAGGGAGGCCAGTGGCTCAGGCCTACTCCTCTGCCACCACCACTGGAGTGCCCTCCCCTCAACAGACCCCTCTGAAGGGACAGCCCAGGGAAGCAACATCCTCAGAGCCTAGTGAATCTATCATGGTGCTGAGGGCTCACACACTGAACCACTGAAGTCACAGCACCCAGCAAGGTGGGTGGAAAGTGAGGCTCAAAGAGAAGTGACTTGATTGGGGTCACCCAGTAAGTGACAAAGCTGGGATGTGAACCCAGGTCAGTGGGACTCCAGAAACTGGCCCTCTTCCGTCTCTACCCTTCAAAGTACCCCATATAGGGTGTTGGGGCAGAAGGAAGCCCCCTCCCCTGCAGATGGATTGGAAGGGAGTGGGTTTGGGATGAGGCTGGGGGACAAATGTTTCCTTCAGGGGTTCAGCTGTAGAGAACTCATCTCATTTAAAAAATAAAAACTGGGCCAGGCACAAGTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCAAGACACGAGGATCGCTTCAGCACAGGAGGGTGGTTTAGTGAGACCCCGTCTCTACAAAAATAAAATTAGCTGTGCATGGTGGTGCACGCCTTTAGAGAGGCTGGGCCAGAGGCAAGCCCTAGGGGGCTTCCATGGGCTGATTTGGAAGAAGGAAGCCCTGCTGTCCCAGGCCCCAGCCCCTGGCCCACACCACCTCATCCCCGACCTGCCCCCTTCCCCGCTGCCCCACCTCACAACACTCCATGGCACTGCCCAGGCGGCCCAGCAGGCGATAGGCCACGGCCATGTGGTACTGGCTCATGGCCCGGTACTTCAGGCTCCAGCCTTTGCCATAGTTGTTGACAAGCTCTGCCGCCTTGCAGGGGAAGAACAGGGCTTTCTCGTAGTCCTGCAGGGGACATGGAATGGAAGGAGGCAAACTGAGTGGCAGAGGCTGCCCCAAGTCAAGGGCTCCTGGGCTAGGTTTCTCTAACAGCAGGTAGGGGCAGGGGGCCCGAGTGTCTGCTCATTCATTGTGACATCCAGGACAAGAGTGGCCCGGTAGAGGGAACAGCCAGTGCAAAGGTGTCGCTCTGTGGACTCAGGGATTCTCATCTGGTTTGTGACGCATCCCAAGAGCCTAGCACAGTTCTTGGCACTTGGTAGATGCACAATAAATATTTGTTGAGTGAATGAATGAAAAGACAAGAAAACACAGTTGGCTTCTCTTTTCTCCCAATGCCAAATGGGCTCCTCAGCTTCAGAGATGCACAGGGATGGGAGATACCAGATCCCTCCACTAGAGCTTGCCTGCTGGCACCCGGAAGCAGGTGTTCACTGAAGCTCAGTGGCAGACTGGCAGCACAACAGGCTCAAAAGAACATCAGACAGACTCAGCGAGGCGATGCAACCATTGGCTTGTACTTTTTCCTCAAGCTTCCAAATGCATTTTCTACCTGCTCATGGTCAGCTGATGACCTCGCCTCAACTCCACGAGGAAAAGGAAGAAAATCAGGGAGAAGCTCCTTCCCCTCCTGTCTCCACCAGATCTCCCATCTCCGCACCTCTGCTCCCACGCTCCCTGCCTCCTTTCCTGTCACTGTGGAGGATGGCTCCTGTTCCCATCAAATGCCAGCCTCCGATGAGCAGTCTCTGCATCGTCAGGTCCTCTCTTTCTACAGAATCTTTCCCATCCACGTGCAAACATGTCTGGCATTTCTCATCTCATTTAAAAAATAAAAACTGGGCCAGGCACAGTGGTTCACGCCTGGAATCCCAGCACTTTGGGAGGCCAAGACAGGAGGAACGCTTGAGCATAGGAGTTGGAGAATGGCCTGGGCAACTTAGTGAGACCCTGTCTCTACAAAAATAAAATCAGCTGTGCATAGTGGTGCACGCCTGTAGTTCCAAGCTACTCAAGAGGCTGAGGTGGGAGAATCACTTGAGCACAGGAGGTCGAGGATATGGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGGCAGACTCTGTCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGGAAAGAAAAAAGAAAACTAACCCACCTTCTCGTGACGTCATTTCCCTTCAGCTAAAGCCCCATTTCACTGTTCTTTTTCAAGGTAAATCTATTTGATCTTTCACTTAATATTTAACAAGCAGCTCCAAGTTAACATGACCAAAAGAGAAGTGTCAATAACCCCCCCAAAAAACCCTTTTCCTAATATGCCTTATTACATACTTTTGAAGCCACATAAATGTTTTACAGATTAAAAAATTAAATTTAATTTGAAAAATACCTAAAAATAGAAAATGGAGGTCAGGTGCAATGGCTCATGTCTGTAATCCCAGCACTCGGGGAAGCTGAGTTGGGAGAACAGCTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACATTGCAAGACCACTGTCTCTACAAAAAATTTAAAAATTAGCCAGATGTGGAAGAATGTGCCTGTAGTCCCAGCTACTCAGGAAGCTGAGGAGGGAGGATCGCTTGAACACAGGAGTTTTAGGTTACAGTGAACCGTGATTGAGCCACTGCACTCCATCCTGGGTGACAGAGCAAGATCCTGTCTCAAAAAAAAACAAAAACAAAAACAAAAACAAAAACCTAAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCATGAAGTCAGGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCCACTAAAATACAAAAAAACTAGCTAGGTGTGGTGACAAGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAAC | ATCTCAAAAATGTTTTTTTCTTTTCTTTTCTTTTCTTTTTTAGAGCATGGGTCTCATTATGTAGCCCAGGCTGCTCTCGAACTTCTGGGCTCAAGTGATCCTCCTACCTCGGCCTCCCAAAATTCTAGGATTATAGATGTGAGCCACCATGTCCAGCCCACTGTTAGGGGTTTTAATCAACATCAGGAAGCTTCTGAGGAATTCTGCTATCCTCCAAGCTATGAAACTTCTGCCCTGCCCTCAGAAGTGCTGTGTGTGTGGCAGAGAAAGAGCCAGAGTATGGGGTTGGCTGCAGGCAGCTCCCAGCATCAGGAAGGGCTCATGACGTGAGTAGGCTCAGGAAGGCCCTTCCCCAGACCCAAGTTCCCCACTTGGGCCCTTGACCCCAGATCCAGGACACAGAATCAAGTCTGACCTTGTTCCCCACCTCCTCGGCCAGATCCTGGGCTCTCTCGATGGCATCCAGAGCCTGGAAGGTGAGCATAGGCCAGGGCTGCGGGCAGAGCTGTCTGACAGGCCTTGCTCACAGGGAAGCACAGGGTAGGGGGGCAGGCCTAGGGAGGGTGACATGGCAGCTGCCTTGTGTGTGAAGGCAGCAGGAAGAGACTAGGGCACAGTCATAGGGGCTGTGTGGGCAAGTGACCTCCTGCCTCAGTTTACCCAGGGTTCCAGCCCTTTACTAGCTGTGGGTCCTAGGGCAAGTGATGGGCCTTCTCTGAGCCTGGAAAATGACCAGGAATGTCCTGGCCTCGTAGGATCAGGGTGAGGCTGACGTCAGACAAAGTGGCTGAAAGAGCCGGCTAACCTACTGGCCCCAAGTGGGGAGTGCTGGGAGGGCTGGAGGCTGTGGGAAAGGCCCGACCTCACCTTGTCCAGCGCCTTCCTGGCCACCCAGCACTTGGCCACACCCAGCAGCGCCTGCACCTGCCCCAGGCGGTTTCCGATCTCGGTCATGATGCTCATGGCGGAGTCGTACCTGGGGAAGGCTGTCTGCAGAGCCAGGTGGGGGATGGAATCAGGCTGTATCAGGCCTGTGCCCCTGCCCCCTGCCCCCAGCCCCTGCATCCCGGTGACCTCACCTCCAGGTCCCCACGGCTCCGGTGGATGTCAGCGAAGCAGAGCAGGCAGAGCGCCTGCAGTGGCCGGTCCCCGTGCTGCAGCGCGATCTTCATAGACTCCTGCGAGGGAGGCCAGTGGCTCAGGCCTACTCCTCTGCCACCACCACTGGAGTGCCCTCCCCTCAACAGACCCCTCTGAAGGGACAGCCCAGGGAAGCAACATCCTCAGAGCCTAGTGAATCTATCATGGTGCTGAGGGCTCACACACTGAACCACTGAAGTCACAGCACCCAGCAAGGTGGGTGGAAAGTGAGGCTCAAAGAGAAGTGACTTGATTGGGGTCACCCAGTAAGTGACAAAGCTGGGATGTGAACCCAGGTCAGTGGGACTCCAGAAACTGGCCCTCTTCCGTCTCTACCCTTCAAAGTACCCCATATAGGGTGTTGGGGCAGAAGGAAGCCCCCTCCCCTGCAGATGGATTGGAAGGGAGTGGGTTTGGGATGAGGCTGGGGGACAAATGTTTCCTTCAGGGGTTCAGCTGTAGAGAACTCATCTCATTTAAAAAATAAAAACTGGGCCAGGCACAAGTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCAAGACACGAGGATCGCTTCAGCACAGGAGGGTGGTTTAGTGAGACCCCGTCTCTACAAAAATAAAATTAGCTGTGCATGGTGGTGCACGCCTTTAGAGAGGCTGGGCCAGAGGCAAGCCCTAGGGGGCTTCCATGGGCTGATTTGGAAGAAGGAAGCCCTGCTGTCCCAGGCCCCAGCCCCTGGCCCACACCACCTCATCCCCGACCTGCCCCCTTCCCCGCTGCCCCACCTCACAACACTCCATGGCACTGCCCAGGCGGCCCAGCAGGCGATAGGCCACGGCCATGTGGTACTGGCTCATGGCCCGGTACTTCAGGCTCCAGCCTTTGCCATAGTTGTTGACAAGCTCTGCCGCCTTGCAGGGGAAGAACAGAACAGGGCTTTCTCGTAGTCCTGCAGGGGACATGGAATGGAAGGAGGCAAACTGAGTGGCAGAGGCTGCCCCAAGTCAAGGGCTCCTGGGCTAGGTTTCTCTAACAGCAGGTAGGGGCAGGGGGCCCGAGTGTCTGCTCATTCATTGTGACATCCAGGACAAGAGTGGCCCGGTAGAGGGAACAGCCAGTGCAAAGGTGTCGCTCTGTGGACTCAGGGATTCTCATCTGGTTTGTGACGCATCCCAAGAGCCTAGCACAGTTCTTGGCACTTGGTAGATGCACAATAAATATTTGTTGAGTGAATGAATGAAAAGACAAGAAAACACAGTTGGCTTCTCTTTTCTCCCAATGCCAAATGGGCTCCTCAGCTTCAGAGATGCACAGGGATGGGAGATACCAGATCCCTCCACTAGAGCTTGCCTGCTGGCACCCGGAAGCAGGTGTTCACTGAAGCTCAGTGGCAGACTGGCAGCACAACAGGCTCAAAAGAACATCAGACAGACTCAGCGAGGCGATGCAACCATTGGCTTGTACTTTTTCCTCAAGCTTCCAAATGCATTTTCTACCTGCTCATGGTCAGCTGATGACCTCGCCTCAACTCCACGAGGAAAAGGAAGAAAATCAGGGAGAAGCTCCTTCCCCTCCTGTCTCCACCAGATCTCCCATCTCCGCACCTCTGCTCCCACGCTCCCTGCCTCCTTTCCTGTCACTGTGGAGGATGGCTCCTGTTCCCATCAAATGCCAGCCTCCGATGAGCAGTCTCTGCATCGTCAGGTCCTCTCTTTCTACAGAATCTTTCCCATCCACGTGCAAACATGTCTGGCATTTCTCATCTCATTTAAAAAATAAAAACTGGGCCAGGCACAGTGGTTCACGCCTGGAATCCCAGCACTTTGGGAGGCCAAGACAGGAGGAACGCTTGAGCATAGGAGTTGGAGAATGGCCTGGGCAACTTAGTGAGACCCTGTCTCTACAAAAATAAAATCAGCTGTGCATAGTGGTGCACGCCTGTAGTTCCAAGCTACTCAAGAGGCTGAGGTGGGAGAATCACTTGAGCACAGGAGGTCGAGGATATGGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGGCAGACTCTGTCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGGAAAGAAAAAAGAAAACTAACCCACCTTCTCGTGACGTCATTTCCCTTCAGCTAAAGCCCCATTTCACTGTTCTTTTTCAAGGTAAATCTATTTGATCTTTCACTTAATATTTAACAAGCAGCTCCAAGTTAACATGACCAAAAGAGAAGTGTCAATAACCCCCCCAAAAAACCCTTTTCCTAATATGCCTTATTACATACTTTTGAAGCCACATAAATGTTTTACAGATTAAAAAATTAAATTTAATTTGAAAAATACCTAAAAATAGAAAATGGAGGTCAGGTGCAATGGCTCATGTCTGTAATCCCAGCACTCGGGGAAGCTGAGTTGGGAGAACAGCTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACATTGCAAGACCACTGTCTCTACAAAAAATTTAAAAATTAGCCAGATGTGGAAGAATGTGCCTGTAGTCCCAGCTACTCAGGAAGCTGAGGAGGGAGGATCGCTTGAACACAGGAGTTTTAGGTTACAGTGAACCGTGATTGAGCCACTGCACTCCATCCTGGGTGACAGAGCAAGATCCTGTCTCAAAAAAAAACAAAAACAAAAACAAAAACAAAAACCTAAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCATGAAGTCAGGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCCACTAAAATACAAAAAAACTAGCTAGGTGTGGTGACAAGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGG | pathogenic | 176,190 |
Regarding the variant found on chromosome 11 at position 47448023 in gene RAPSN (receptor associated protein of the synapse): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_2'] | CTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCTCACTGAATGGCTCCCCCTTACATCTGCTTCCTAAAAACAAAGTCCTGGCTGTCATCCTTGGTGACTCGTTTCCTCCCATCCCACCTTGGATCCATCAGCATTTATCCACTCACTAACTCCAAGATTTATTAAGCATCTACTGGGGCCAGGCATTAAATCCCCCATGGACCAAGCACAGCACAGATACCTGAGGGGAAAGGGAACAAAAATACCCAGGGTTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATTTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCT | CTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCTCACTGAATGGCTCCCCCTTACATCTGCTTCCTAAAAACAAAGTCCTGGCTGTCATCCTTGGTGACTCGTTTCCTCCCATCCCACCTTGGATCCATCAGCATTTATCCACTCACTAACTCCAAGATTTATTAAGCATCTACTGGGGCCAGGCATTAAATCCCCCATGGACCAAGCACAGCACAGATACCTGAGGGGAAAGGGAACAAAAATACCCAGGGTTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATTTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTNNNNNNNNNNNNNNNNNNNN | pathogenic | 176,201 |
Regarding the variant found on chromosome 11 at position 47448054 in gene RAPSN (receptor associated protein of the synapse): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_2'] | GCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCTCACTGAATGGCTCCCCCTTACATCTGCTTCCTAAAAACAAAGTCCTGGCTGTCATCCTTGGTGACTCGTTTCCTCCCATCCCACCTTGGATCCATCAGCATTTATCCACTCACTAACTCCAAGATTTATTAAGCATCTACTGGGGCCAGGCATTAAATCCCCCATGGACCAAGCACAGCACAGATACCTGAGGGGAAAGGGAACAAAAATACCCAGGGTTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATTTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTGGCTGGGCAATTCAGTGGTTTTTAGTATATT | GCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCTCACTGAATGGCTCCCCCTTACATCTGCTTCCTAAAAACAAAGTCCTGGCTGTCATCCTTGGTGACTCGTTTCCTCCCATCCCACCTTGGATCCATCAGCATTTATCCACTCACTAACTCCAAGATTTATTAAGCATCTACTGGGGCCAGGCATTAAATCCCCCATGGACCAAGCACAGCACAGATACCTGAGGGGAAAGGGAACAAAAATACCCAGGGTTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATTTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCAAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTGGCTGGGCAATTCAGTGGTTTTTAGTATATTN | pathogenic | 176,203 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 47448132, gene RAPSN (receptor associated protein of the synapse). What disease(s) is it linked to if pathogenic? | pathogenic; ['Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_2'] | ATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCTCACTGAATGGCTCCCCCTTACATCTGCTTCCTAAAAACAAAGTCCTGGCTGTCATCCTTGGTGACTCGTTTCCTCCCATCCCACCTTGGATCCATCAGCATTTATCCACTCACTAACTCCAAGATTTATTAAGCATCTACTGGGGCCAGGCATTAAATCCCCCATGGACCAAGCACAGCACAGATACCTGAGGGGAAAGGGAACAAAAATACCCAGGGTTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATTTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTGGCTGGGCAATTCAGTGGTTTTTAGTATATTCACAGAGATGCACATTAATTGCCACTAATTCCAGAACATTTTAACCACCCCAAAAAGGAGACGCACACCCATCAGCAG | ATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCTCACTGAATGGCTCCCCCTTACATCTGCTTCCTAAAAACAAAGTCCTGGCTGTCATCCTTGGTGACTCGTTTCCTCCCATCCCACCTTGGATCCATCAGCATTTATCCACTCACTAACTCCAAGATTTATTAAGCATCTACTGGGGCCAGGCATTAAATCCCCCATGGACCAAGCACAGCACAGATACCTGAGGGGAAAGGGAACAAAAATACCCAGGGTTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATTTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTGGCTGGGCAATTCAGTGGTTTTTAGTATATTCACAGAGATGCACATTAATTGCCACTAATTCCAGAACATTTTAACCACCCCAAAAAGGAGACGCACACCCATCAGCAGN | pathogenic | 176,208 |
Gene RAPSN (receptor associated protein of the synapse) variant at chromosome position 47448141 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_2'] | TCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCTCACTGAATGGCTCCCCCTTACATCTGCTTCCTAAAAACAAAGTCCTGGCTGTCATCCTTGGTGACTCGTTTCCTCCCATCCCACCTTGGATCCATCAGCATTTATCCACTCACTAACTCCAAGATTTATTAAGCATCTACTGGGGCCAGGCATTAAATCCCCCATGGACCAAGCACAGCACAGATACCTGAGGGGAAAGGGAACAAAAATACCCAGGGTTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATTTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTGGCTGGGCAATTCAGTGGTTTTTAGTATATTCACAGAGATGCACATTAATTGCCACTAATTCCAGAACATTTTAACCACCCCAAAAAGGAGACGCACACCCATCAGCAGTTACACCAC | TCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCTCACTGAATGGCTCCCCCTTACATCTGCTTCCTAAAAACAAAGTCCTGGCTGTCATCCTTGGTGACTCGTTTCCTCCCATCCCACCTTGGATCCATCAGCATTTATCCACTCACTAACTCCAAGATTTATTAAGCATCTACTGGGGCCAGGCATTAAATCCCCCATGGACCAAGCACAGCACAGATACCTGAGGGGAAAGGGAACAAAAATACCCAGGGTTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATTTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTGGCTGGGCAATTCAGTGGTTTTTAGTATATTCACAGAGATGCACATTAATTGCCACTAATTCCAGAACATTTTAACCACCCCAAAAAGGAGACGCACACCCATCAGCAGTTACACCACNNNNNNNNNNNNNN | pathogenic | 176,209 |
Is chromosome 11, position 47448812, gene RAPSN (receptor associated protein of the synapse) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Congenital_myasthenic_syndrome', 'Hydrops_fetalis'] | GCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTGGCTGGGCAATTCAGTGGTTTTTAGTATATTCACAGAGATGCACATTAATTGCCACTAATTCCAGAACATTTTAACCACCCCAAAAAGGAGACGCACACCCATCAGCAGTTACACCACTCCATTCCCCACCTTGATATGACTGAATCATGTCCCCCCGCAACCAAACGCATATGTTTAAGTCCTAACACTCAGTATCTCATAAGGTGACTGTCTTTGGAGACAGGGTCTTTAAAGGGTGATTAAGGTAAAATGAAGTCACATTGTACCTCATCCAGTTAAGACTGGTATCCCCCCCCCCTTTTTTTTGAGACAGGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAACCTCTACCTCCTAGGCTCAAGTGACCCTCCCACCTCAGTCTCCTGGGTAGCTGAGACCACAGCTGTCTAGTTTTTGTAGAGATGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGAGGTGGAGGTTTCAGTGAGCCGTGATTGTGCCACTGCACTCCAGCCTGAGCACCAGAGCAAGACCTTGTCTCAAAAAATAAATAAACAATAAATTTTTATTTTTAAAAATTATTTTTGAGACGGAGTTTTGCTCTTGTTGCATAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGAGACTTCTACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATGACAGGTGTATGCCACCACGCCTGGCTAAGTTTTTGTATTTAGTAGAGACGGGGTTTC | GCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCCCATCTCCTTGTAGCGGCCCATCTCCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTGGCTGGGCAATTCAGTGGTTTTTAGTATATTCACAGAGATGCACATTAATTGCCACTAATTCCAGAACATTTTAACCACCCCAAAAAGGAGACGCACACCCATCAGCAGTTACACCACTCCATTCCCCACCTTGATATGACTGAATCATGTCCCCCCGCAACCAAACGCATATGTTTAAGTCCTAACACTCAGTATCTCATAAGGTGACTGTCTTTGGAGACAGGGTCTTTAAAGGGTGATTAAGGTAAAATGAAGTCACATTGTACCTCATCCAGTTAAGACTGGTATCCCCCCCCCCTTTTTTTTGAGACAGGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAACCTCTACCTCCTAGGCTCAAGTGACCCTCCCACCTCAGTCTCCTGGGTAGCTGAGACCACAGCTGTCTAGTTTTTGTAGAGATGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGAGGTGGAGGTTTCAGTGAGCCGTGATTGTGCCACTGCACTCCAGCCTGAGCACCAGAGCAAGACCTTGTCTCAAAAAATAAATAAACAATAAATTTTTATTTTTAAAAATTATTTTTGAGACGGAGTTTTGCTCTTGTTGCATAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGAGACTTCTACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATGACAGGTGTATGCCACCACGCCTGGCTAAGTTTTTGTAT | pathogenic | 176,215 |
Evaluate the clinical significance of the mutation at chromosome 11, position 47448918 in gene RAPSN (receptor associated protein of the synapse): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_2'] | ACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTGGCTGGGCAATTCAGTGGTTTTTAGTATATTCACAGAGATGCACATTAATTGCCACTAATTCCAGAACATTTTAACCACCCCAAAAAGGAGACGCACACCCATCAGCAGTTACACCACTCCATTCCCCACCTTGATATGACTGAATCATGTCCCCCCGCAACCAAACGCATATGTTTAAGTCCTAACACTCAGTATCTCATAAGGTGACTGTCTTTGGAGACAGGGTCTTTAAAGGGTGATTAAGGTAAAATGAAGTCACATTGTACCTCATCCAGTTAAGACTGGTATCCCCCCCCCCTTTTTTTTGAGACAGGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAACCTCTACCTCCTAGGCTCAAGTGACCCTCCCACCTCAGTCTCCTGGGTAGCTGAGACCACAGCTGTCTAGTTTTTGTAGAGATGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGAGGTGGAGGTTTCAGTGAGCCGTGATTGTGCCACTGCACTCCAGCCTGAGCACCAGAGCAAGACCTTGTCTCAAAAAATAAATAAACAATAAATTTTTATTTTTAAAAATTATTTTTGAGACGGAGTTTTGCTCTTGTTGCATAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGAGACTTCTACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATGACAGGTGTATGCCACCACGCCTGGCTAAGTTTTTGTATTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTTCTGACCTCAGTTGATCCACCTGCCTCAGAGCCTCCCGAAGTATTGGGGTTATAGGCGTGAGCCACCATGCCTGACCA | ACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTGGCTGGGCAATTCAGTGGTTTTTAGTATATTCACAGAGATGCACATTAATTGCCACTAATTCCAGAACATTTTAACCACCCCAAAAAGGAGACGCACACCCATCAGCAGTTACACCACTCCATTCCCCACCTTGATATGACTGAATCATGTCCCCCCGCAACCAAACGCATATGTTTAAGTCCTAACACTCAGTATCTCATAAGGTGACTGTCTTTGGAGACAGGGTCTTTAAAGGGTGATTAAGGTAAAATGAAGTCACATTGTACCTCATCCAGTTAAGACTGGTATCCCCCCCCCCTTTTTTTTGAGACAGGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAACCTCTACCTCCTAGGCTCAAGTGACCCTCCCACCTCAGTCTCCTGGGTAGCTGAGACCACAGCTGTCTAGTTTTTGTAGAGATGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGAGGTGGAGGTTTCAGTGAGCCGTGATTGTGCCACTGCACTCCAGCCTGAGCACCAGAGCAAGACCTTGTCTCAAAAAATAAATAAACAATAAATTTTTATTTTTAAAAATTATTTTTGAGACGGAGTTTTGCTCTTGTTGCATAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGAGACTTCTACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATGACAGGTGTATGCCACCACGCCTGGCTAAGTTTTTGTATTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTTCTGACCTCAGTTGATCCACCTGCCTCAGAGCCTCCCGAAGTATTGGGGTTATAGGCGTGAGCCACCATGCCTGACC | pathogenic | 176,219 |
Variant at chromosome position 47448925, chromosome 11, gene RAPSN (receptor associated protein of the synapse): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_2'] | CCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTGGCTGGGCAATTCAGTGGTTTTTAGTATATTCACAGAGATGCACATTAATTGCCACTAATTCCAGAACATTTTAACCACCCCAAAAAGGAGACGCACACCCATCAGCAGTTACACCACTCCATTCCCCACCTTGATATGACTGAATCATGTCCCCCCGCAACCAAACGCATATGTTTAAGTCCTAACACTCAGTATCTCATAAGGTGACTGTCTTTGGAGACAGGGTCTTTAAAGGGTGATTAAGGTAAAATGAAGTCACATTGTACCTCATCCAGTTAAGACTGGTATCCCCCCCCCCTTTTTTTTGAGACAGGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAACCTCTACCTCCTAGGCTCAAGTGACCCTCCCACCTCAGTCTCCTGGGTAGCTGAGACCACAGCTGTCTAGTTTTTGTAGAGATGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGAGGTGGAGGTTTCAGTGAGCCGTGATTGTGCCACTGCACTCCAGCCTGAGCACCAGAGCAAGACCTTGTCTCAAAAAATAAATAAACAATAAATTTTTATTTTTAAAAATTATTTTTGAGACGGAGTTTTGCTCTTGTTGCATAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGAGACTTCTACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATGACAGGTGTATGCCACCACGCCTGGCTAAGTTTTTGTATTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTTCTGACCTCAGTTGATCCACCTGCCTCAGAGCCTCCCGAAGTATTGGGGTTATAGGCGTGAGCCACCATGCCTGACCACAATACT | CCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTGGCTGGGCAATTCAGTGGTTTTTAGTATATTCACAGAGATGCACATTAATTGCCACTAATTCCAGAACATTTTAACCACCCCAAAAAGGAGACGCACACCCATCAGCAGTTACACCACTCCATTCCCCACCTTGATATGACTGAATCATGTCCCCCCGCAACCAAACGCATATGTTTAAGTCCTAACACTCAGTATCTCATAAGGTGACTGTCTTTGGAGACAGGGTCTTTAAAGGGTGATTAAGGTAAAATGAAGTCACATTGTACCTCATCCAGTTAAGACTGGTATCCCCCCCCCCTTTTTTTTGAGACAGGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAACCTCTACCTCCTAGGCTCAAGTGACCCTCCCACCTCAGTCTCCTGGGTAGCTGAGACCACAGCTGTCTAGTTTTTGTAGAGATGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGAGGTGGAGGTTTCAGTGAGCCGTGATTGTGCCACTGCACTCCAGCCTGAGCACCAGAGCAAGACCTTGTCTCAAAAAATAAATAAACAATAAATTTTTATTTTTAAAAATTATTTTTGAGACGGAGTTTTGCTCTTGTTGCATAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGAGACTTCTACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATGACAGGTGTATGCCACCACGCCTGGCTAAGTTTTTGTATTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTTCTGACCTCAGTTGATCCACCTGCCTCAGAGCCTCCCGAAGTATTGGGGTTATAGGCGTGAGCCACCATGCCTGACCACAATACTN | pathogenic | 176,221 |
Regarding the variant at chromosome 11 and position 47448953, affecting gene RAPSN (receptor associated protein of the synapse): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_2'] | CTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTGGCTGGGCAATTCAGTGGTTTTTAGTATATTCACAGAGATGCACATTAATTGCCACTAATTCCAGAACATTTTAACCACCCCAAAAAGGAGACGCACACCCATCAGCAGTTACACCACTCCATTCCCCACCTTGATATGACTGAATCATGTCCCCCCGCAACCAAACGCATATGTTTAAGTCCTAACACTCAGTATCTCATAAGGTGACTGTCTTTGGAGACAGGGTCTTTAAAGGGTGATTAAGGTAAAATGAAGTCACATTGTACCTCATCCAGTTAAGACTGGTATCCCCCCCCCCTTTTTTTTGAGACAGGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAACCTCTACCTCCTAGGCTCAAGTGACCCTCCCACCTCAGTCTCCTGGGTAGCTGAGACCACAGCTGTCTAGTTTTTGTAGAGATGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGAGGTGGAGGTTTCAGTGAGCCGTGATTGTGCCACTGCACTCCAGCCTGAGCACCAGAGCAAGACCTTGTCTCAAAAAATAAATAAACAATAAATTTTTATTTTTAAAAATTATTTTTGAGACGGAGTTTTGCTCTTGTTGCATAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGAGACTTCTACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATGACAGGTGTATGCCACCACGCCTGGCTAAGTTTTTGTATTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTTCTGACCTCAGTTGATCCACCTGCCTCAGAGCCTCCCGAAGTATTGGGGTTATAGGCGTGAGCCACCATGCCTGACCACAATACTTTTTTTTTTTTTTGAGACACTTTCCCTC | CTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTGGCTGGGCAATTCAGTGGTTTTTAGTATATTCACAGAGATGCACATTAATTGCCACTAATTCCAGAACATTTTAACCACCCCAAAAAGGAGACGCACACCCATCAGCAGTTACACCACTCCATTCCCCACCTTGATATGACTGAATCATGTCCCCCCGCAACCAAACGCATATGTTTAAGTCCTAACACTCAGTATCTCATAAGGTGACTGTCTTTGGAGACAGGGTCTTTAAAGGGTGATTAAGGTAAAATGAAGTCACATTGTACCTCATCCAGTTAAGACTGGTATCCCCCCCCCCTTTTTTTTGAGACAGGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAACCTCTACCTCCTAGGCTCAAGTGACCCTCCCACCTCAGTCTCCTGGGTAGCTGAGACCACAGCTGTCTAGTTTTTGTAGAGATGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGAGGTGGAGGTTTCAGTGAGCCGTGATTGTGCCACTGCACTCCAGCCTGAGCACCAGAGCAAGACCTTGTCTCAAAAAATAAATAAACAATAAATTTTTATTTTTAAAAATTATTTTTGAGACGGAGTTTTGCTCTTGTTGCATAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGAGACTTCTACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATGACAGGTGTATGCCACCACGCCTGGCTAAGTTTTTGTATTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTTCTGACCTCAGTTGATCCACCTGCCTCAGAGCCTCCCGAAGTATTGGGGTTATAGGCGTGAGCCACCATGCCTGACCACAATACTTTTTTTTTTTTTTGAGACACTTTCCCT | pathogenic | 176,223 |
Is chromosome 11, position 57599928, gene SERPING1 (serpin family G member 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['C1_inhibitor_deficiency', 'Hereditary_angioedema_type_1'] | CAGCCCCTCCCGCCTCAGGCCTGTTGTGCTCAGCCCCCCAGGACCTCCCCTCCCCCACGCCTCTGGCCTCATTGTTTGGTTAAAGCAGGACCCCCTCCCCCTCCCACCACCTCCCCTCCGACTGAACAGATGGACAGAGACCCGGGCCCACGGGGAGAGGAAGGGCCAGCCGGTGCCGGGAAAGGGAAGCGGTTTGGGGAAAACAAAACAGAGGGAGGAGCCAGGGAGAAGGTGGCCCCAGGAGGGAGGAGGAGGGAATTCGCTAAGAGGGACTGGGGCCTGAGACGGAATGGGGGCGGGCCCCGGGCGGGGTGGGGGCCCCTGGGCTCCCAGGGTGGGAGCTGGCTCCGAGGCTGGCTGGCTCCGCAGGTCCGCTGACGTCGCCGCCCAGATGGCCTCCAGGCTGACCCTGCTGACCCTCCTGCTGCTGCTGCTGGCTGGGGTATGTGGTCCCTTGTGGGATGGGGGACGGGGGTGGAGACGGGAGGCGGGATGGTGCGGGGTGCGGGCGGTGGCTGAGGATTAACCCTTCAGGCTCCGGGGAATGAGGAGAGCTCCTCTTGGGATCATTGAGTGTGATCCTTGCACACGCACTCGTAGATGGTGGAAAGAGCTCAGGACTCAGACAGATGCAAGTTCTAATCTTGGCGGGCCATGTAGGAGCTGCGCAGCGTGGTCCTGAGGACGTCACTTTTCTCAGCCTACTCCTCCTGATTTATAAAATGTTGAATAAACAGATCCCACCCTGTCCACCAAGCAGGCTTGGCAGGAGGATCACATAGGGCAAGGAGATGGGAAGCATTTTGTGATATCAAAGCAAGAGTTTGTTGTAGAAAAGAGCTGTGGGGAGGAGAGGTTTGGCTGCTGTGACACAGACGGTGGTCCCAGGCTAGGGCCTGTGAAGACAGGGAAGAATGGTAGCAAACATACGTGGGTCTGGGTGGGGGTCAATAGCAGTGAGAGGTCCCAGTGGTCTGGGAGGTCATGGACTAGAAATAAGGCTAAGAAGTGCAGGATCCCAGGAGAAAGGTAGGTAGGGGTGTGTGTATGTGCGTGTGTGTGTGTGTGCACGCGCAAGTTGGTATCACATACTCAGCAGATGATGTAGTTATGAGCAGGGAGTTTGGAATCAGAGACCTTGTTTTGACCCCTAGCTGTTTCTCCCATTTCTGTGAGACCCTGGACTAGTTAATATGTGTCGGTATGAGTTTCTCTACCTGTGAAATGGAGCTAATGCGTGGTTTCTCAGTGGAGGATCTGTTGACATTGGGGCTGGATAATTCATTGCTGAGGGGCTACCCTGCGCATTTTAGGATGTTTTGCAGTATATCTCTAGCCTCTACGCACTAGATTCCGGTAGCATCTTCCCTGCTGTCTCCCTGTGACAACCAAAAATGTCTCTGGACATTGCCAAATATCCCCTGGGAGTCAAAATTGTTTCAGAGCCGCTGGCCTATACTACTTCTCTCTCCCTCCCTTCCTGCCTCCCTTCTTTCCTCCTTCCCTTTCTTCGTTCCCTTCCTAATGTGTACTGTTTTTCCACACCCACTAATGGGTTGCAACCCACAGTTTAAAAATTTACTGTTCTAAATCAAGGAGCACAAGTTCAAATGTCTGTACTAGCCAAGCAAGTGAGTCAAACAGGTAGATATTTACAGGAAATTGCAAGAACATAGATAAATGACAACACTCAGCTTCACTGTTTGGAAAACAACTTCCTACAGGGCAGTAATTGGTCAGAGATTACAGAGTCCCTGACTATCCCTCATCTTCTGCAGAGCACATTCCTGTGCACCCCCACCCTCACCCTGTATTGCCCCTTCTCTGAGGAATTAGTGGTGGTGGTTCTAAGACAGATTGCTCATCTGCCGCACTGTCAGAAATTACTCTCTTGTACAGGACATTTTCCACATCCACACCTTCTCTTCCTGCTTTGAGTATTTTAGAGGACTGTGCCTCGTAGTAAGAAAAAAATGAAACTCAGTTTCTTGAACCACAGGATAGAGCCTCCTCAAATCCAAATGCTACCAGCTCCAGCTCCCAGGATCCAGAGAGTTTGCAAGACAGAGGCGAAGGGAAGGTCGCAACAACAGTTATCTCCAAGATGCTATTCGTTGAACCCATCCTGGAGGTTTCCAGCTTGCCGACAACCAACTCAACAACCAATTCAGCCACCAAAATAACAGCTAATACCACTGATGAACCCACCACACAACCCACCACAGAGCCCACCACCCAACCCACCATCCAACCCACCCAACCAACTACCCAGCTCCCAACAGATTCTCCTACCCAGCCCACTACTGGGTCCTTCTGCCCAGGACCTGTTACTCTCTGCTCTGACTTGGAGAGTCATTCAACAGAGGCCGTGTTGGGGGATGCTTTGGTAGATTTCTCCCTGAAGCTCTACCACGCCTTCTCAGCAATGAAGAAGGTGGAGACCAACATGGCCTTTTCCCCATTCAGCATCGCCAGCCTCCTTACCCAGGTCCTGCTCGGTAAGACCCTGCTTGAATTCTCTCCAGGTCATTTGTTGGACACTCCCATAAGAGTCACCAATCCAGACACTTACAAAGCCATGCCTCTGGGAAGAAGCTGTAAAAATGGGCTATTATATATTGGGGGTGGGGTAGAGGGATGTATCTTTTCATTCTTGAACATTCCATCATTTCACAGTGATGTAATAGGCACGATTGCTTGTAAAACTCTGTGACTATACAAGAACATATAAAATAAGGTCGCAGCCACTAACCATGTTTCATGGCAAGGAGAGGTGATAAGAAAGATGAAATTAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCAGGGAGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGCAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGACCGCACCATTGCACTACAGTCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAATTATCAGAGATAGACCTAGAGTAGATGTGGTTAGTACTGCCTTCTAGCTCTGTGACCTTGGGCAGATCACTTTAACCTCTCTGAGCCTTGAGTCCTCTTGTGTAAAATAGTGATGATGCTATCTACCTCAAAAGATTAAGAAGCAGAAAGCCAGGCCGGATGCGGTGGTTCACACCTGTAATCCCAGCATTTTAGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAGAAATTAGCTAGGCATGGTGGTGCACACCTGTAACCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACACGGGAGGCAGAGGTTGCAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGAAGACTGAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAGCAGCCTAGTGTCTGACTTAGTGGGAGGTCAAAAAAATGTAAATCCTCTGCCATCTTGAGGGATTACTGTCAAGTCCCATTTGGTAATTACCCTAGGAATGGCACAAACAAATTACTACAAGCAGTGGGGACAGAGCTATTACTCCCCAGAGAGAATTCTAAAAAGGCTACAGAATCTTTCTTGGCTGGGCACGGTGACTCACACCTATAATCCTGGCACTTTGGGAGGCCAAGGCAGGAGTTCAAGACCAGCCTGGCCAACATGTTGAAACCCCATCTCTACTAAAAATGCAAAAATTAGCCAGGCATAGTGATGCATGCTTATTGTCCCAGCTACTTGGGAGGCAGAGGTGGGAGGATTGCTTGAACCTGGAGATTCAAGTGAGCTGAGATTGCACCACTGCATTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAGATTGAGAGAACACTTCCAGCTCAGATGATCTGTGATCCCCTCCAAAGCAGGGAATACCCTCCATTCCAGCCTGGTCCCCAACCCTCATT | CAGCCCCTCCCGCCTCAGGCCTGTTGTGCTCAGCCCCCCAGGACCTCCCCTCCCCCACGCCTCTGGCCTCATTGTTTGGTTAAAGCAGGACCCCCTCCCCCTCCCACCACCTCCCCTCCGACTGAACAGATGGACAGAGACCCGGGCCCACGGGGAGAGGAAGGGCCAGCCGGTGCCGGGAAAGGGAAGCGGTTTGGGGAAAACAAAACAGAGGGAGGAGCCAGGGAGAAGGTGGCCCCAGGAGGGAGGAGGAGGGAATTCGCTAAGAGGGACTGGGGCCTGAGACGGAATGGGGGCGGGCCCCGGGCGGGGTGGGGGCCCCTGGGCTCCCAGGGTGGGAGCTGGCTCCGAGGCTGGCTGGCTCCGCAGGTCCGCTGACGTCGCCGCCCAGATGGCCTCCAGGCTGACCCTGCTGACCCTCCTGCTGCTGCTGCTGGCTGGGGTATGTGGTCCCTTGTGGGATGGGGGACGGGGGTGGAGACGGGAGGCGGGATGGTGCGGGGTGCGGGCGGTGGCTGAGGATTAACCCTTCAGGCTCCGGGGAATGAGGAGAGCTCCTCTTGGGATCATTGAGTGTGATCCTTGCACACGCACTCGTAGATGGTGGAAAGAGCTCAGGACTCAGACAGATGCAAGTTCTAATCTTGGCGGGCCATGTAGGAGCTGCGCAGCGTGGTCCTGAGGACGTCACTTTTCTCAGCCTACTCCTCCTGATTTATAAAATGTTGAATAAACAGATCCCACCCTGTCCACCAAGCAGGCTTGGCAGGAGGATCACATAGGGCAAGGAGATGGGAAGCATTTTGTGATATCAAAGCAAGAGTTTGTTGTAGAAAAGAGCTGTGGGGAGGAGAGGTTTGGCTGCTGTGACACAGACGGTGGTCCCAGGCTAGGGCCTGTGAAGACAGGGAAGAATGGTAGCAAACATACGTGGGTCTGGGTGGGGGTCAATAGCAGTGAGAGGTCCCAGTGGTCTGGGAGGTCATGGACTAGAAATAAGGCTAAGAAGTGCAGGATCCCAGGAGAAAGGTAGGTAGGGGTGTGTGTATGTGCGTGTGTGTGTGTGTGCACGCGCAAGTTGGTATCACATACTCAGCAGATGATGTAGTTATGAGCAGGGAGTTTGGAATCAGAGACCTTGTTTTGACCCCTAGCTGTTTCTCCCATTTCTGTGAGACCCTGGACTAGTTAATATGTGTCGGTATGAGTTTCTCTACCTGTGAAATGGAGCTAATGCGTGGTTTCTCAGTGGAGGATCTGTTGACATTGGGGCTGGATAATTCATTGCTGAGGGGCTACCCTGCGCATTTTAGGATGTTTTGCAGTATATCTCTAGCCTCTACGCACTAGATTCCGGTAGCATCTTCCCTGCTGTCTCCCTGTGACAACCAAAAATGTCTCTGGACATTGCCAAATATCCCCTGGGAGTCAAAATTGTTTCAGAGCCGCTGGCCTATACTACTTCTCTCTCCCTCCCTTCCTGCCTCCCTTCTTTCCTCCTTCCCTTTCTTCGTTCCCTTCCTAATGTGTACTGTTTTTCCACACCCACTAATGGGTTGCAACCCACAGTTTAAAAATTTACTGTTCTAAATCAAGGAGCACAAGTTCAAATGTCTGTACTAGCCAAGCAAGTGAGTCAAACAGGTAGATATTTACAGGAAATTGCAAGAACATAGATAAATGACAACACTCAGCTTCACTGTTTGGAAAACAACTTCCTACAGGGCAGTAATTGGTCAGAGATTACAGAGTCCCTGACTATCCCTCATCTTCTGCAGAGCACATTCCTGTGCACCCCCACCCTCACCCTGTATTGCCCCTTCTCTGAGGAATTAGTGGTGGTGGTTCTAAGACAGATTGCTCATCTGCCGCACTGTCAGAAATTACTCTCTTGTACAGGACATTTTCCACATCCACACCTTCTCTTCCTGCTTTGAGTATTTTAGAGGACTGTGCCTCGTAGTAAGAAAAAAATGAAACTCAGTTTCTTGAACCACAGGATAGAGCCTCCTCAAATCCAAATGCTACCAGCTCCAGCTCCCAGGATCCAGAGTTTGCAAGACAGAGGCGAAGGGAAGGTCGCAACAACAGTTATCTCCAAGATGCTATTCGTTGAACCCATCCTGGAGGTTTCCAGCTTGCCGACAACCAACTCAACAACCAATTCAGCCACCAAAATAACAGCTAATACCACTGATGAACCCACCACACAACCCACCACAGAGCCCACCACCCAACCCACCATCCAACCCACCCAACCAACTACCCAGCTCCCAACAGATTCTCCTACCCAGCCCACTACTGGGTCCTTCTGCCCAGGACCTGTTACTCTCTGCTCTGACTTGGAGAGTCATTCAACAGAGGCCGTGTTGGGGGATGCTTTGGTAGATTTCTCCCTGAAGCTCTACCACGCCTTCTCAGCAATGAAGAAGGTGGAGACCAACATGGCCTTTTCCCCATTCAGCATCGCCAGCCTCCTTACCCAGGTCCTGCTCGGTAAGACCCTGCTTGAATTCTCTCCAGGTCATTTGTTGGACACTCCCATAAGAGTCACCAATCCAGACACTTACAAAGCCATGCCTCTGGGAAGAAGCTGTAAAAATGGGCTATTATATATTGGGGGTGGGGTAGAGGGATGTATCTTTTCATTCTTGAACATTCCATCATTTCACAGTGATGTAATAGGCACGATTGCTTGTAAAACTCTGTGACTATACAAGAACATATAAAATAAGGTCGCAGCCACTAACCATGTTTCATGGCAAGGAGAGGTGATAAGAAAGATGAAATTAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCAGGGAGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGCAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGACCGCACCATTGCACTACAGTCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAATTATCAGAGATAGACCTAGAGTAGATGTGGTTAGTACTGCCTTCTAGCTCTGTGACCTTGGGCAGATCACTTTAACCTCTCTGAGCCTTGAGTCCTCTTGTGTAAAATAGTGATGATGCTATCTACCTCAAAAGATTAAGAAGCAGAAAGCCAGGCCGGATGCGGTGGTTCACACCTGTAATCCCAGCATTTTAGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAGAAATTAGCTAGGCATGGTGGTGCACACCTGTAACCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACACGGGAGGCAGAGGTTGCAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGAAGACTGAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAGCAGCCTAGTGTCTGACTTAGTGGGAGGTCAAAAAAATGTAAATCCTCTGCCATCTTGAGGGATTACTGTCAAGTCCCATTTGGTAATTACCCTAGGAATGGCACAAACAAATTACTACAAGCAGTGGGGACAGAGCTATTACTCCCCAGAGAGAATTCTAAAAAGGCTACAGAATCTTTCTTGGCTGGGCACGGTGACTCACACCTATAATCCTGGCACTTTGGGAGGCCAAGGCAGGAGTTCAAGACCAGCCTGGCCAACATGTTGAAACCCCATCTCTACTAAAAATGCAAAAATTAGCCAGGCATAGTGATGCATGCTTATTGTCCCAGCTACTTGGGAGGCAGAGGTGGGAGGATTGCTTGAACCTGGAGATTCAAGTGAGCTGAGATTGCACCACTGCATTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAGATTGAGAGAACACTTCCAGCTCAGATGATCTGTGATCCCCTCCAAAGCAGGGAATACCCTCCATTCCAGCCTGGTCCCCAACCCTCATTNN | pathogenic | 176,309 |
Evaluate this variant at chromosome 11, position 57600135, gene SERPING1 (serpin family G member 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_angioedema_type_1'] | ACAGAGGGAGGAGCCAGGGAGAAGGTGGCCCCAGGAGGGAGGAGGAGGGAATTCGCTAAGAGGGACTGGGGCCTGAGACGGAATGGGGGCGGGCCCCGGGCGGGGTGGGGGCCCCTGGGCTCCCAGGGTGGGAGCTGGCTCCGAGGCTGGCTGGCTCCGCAGGTCCGCTGACGTCGCCGCCCAGATGGCCTCCAGGCTGACCCTGCTGACCCTCCTGCTGCTGCTGCTGGCTGGGGTATGTGGTCCCTTGTGGGATGGGGGACGGGGGTGGAGACGGGAGGCGGGATGGTGCGGGGTGCGGGCGGTGGCTGAGGATTAACCCTTCAGGCTCCGGGGAATGAGGAGAGCTCCTCTTGGGATCATTGAGTGTGATCCTTGCACACGCACTCGTAGATGGTGGAAAGAGCTCAGGACTCAGACAGATGCAAGTTCTAATCTTGGCGGGCCATGTAGGAGCTGCGCAGCGTGGTCCTGAGGACGTCACTTTTCTCAGCCTACTCCTCCTGATTTATAAAATGTTGAATAAACAGATCCCACCCTGTCCACCAAGCAGGCTTGGCAGGAGGATCACATAGGGCAAGGAGATGGGAAGCATTTTGTGATATCAAAGCAAGAGTTTGTTGTAGAAAAGAGCTGTGGGGAGGAGAGGTTTGGCTGCTGTGACACAGACGGTGGTCCCAGGCTAGGGCCTGTGAAGACAGGGAAGAATGGTAGCAAACATACGTGGGTCTGGGTGGGGGTCAATAGCAGTGAGAGGTCCCAGTGGTCTGGGAGGTCATGGACTAGAAATAAGGCTAAGAAGTGCAGGATCCCAGGAGAAAGGTAGGTAGGGGTGTGTGTATGTGCGTGTGTGTGTGTGTGCACGCGCAAGTTGGTATCACATACTCAGCAGATGATGTAGTTATGAGCAGGGAGTTTGGAATCAGAGACCTTGTTTTGACCCCTAGCTGTTTCTCCCATTTCTGTGAGACCCTGGACTAGTTAATATGTGTCGGTATGAGTTTCTCTACCTGTGAAATGGAGCTAATGCGTGGTTTCTCAGTGGAGGATCTGTTGACATTGGGGCTGGATAATTCATTGCTGAGGGGCTACCCTGCGCATTTTAGGATGTTTTGCAGTATATCTCTAGCCTCTACGCACTAGATTCCGGTAGCATCTTCCCTGCTGTCTCCCTGTGACAACCAAAAATGTCTCTGGACATTGCCAAATATCCCCTGGGAGTCAAAATTGTTTCAGAGCCGCTGGCCTATACTACTTCTCTCTCCCTCCCTTCCTGCCTCCCTTCTTTCCTCCTTCCCTTTCTTCGTTCCCTTCCTAATGTGTACTGTTTTTCCACACCCACTAATGGGTTGCAACCCACAGTTTAAAAATTTACTGTTCTAAATCAAGGAGCACAAGTTCAAATGTCTGTACTAGCCAAGCAAGTGAGTCAAACAGGTAGATATTTACAGGAAATTGCAAGAACATAGATAAATGACAACACTCAGCTTCACTGTTTGGAAAACAACTTCCTACAGGGCAGTAATTGGTCAGAGATTACAGAGTCCCTGACTATCCCTCATCTTCTGCAGAGCACATTCCTGTGCACCCCCACCCTCACCCTGTATTGCCCCTTCTCTGAGGAATTAGTGGTGGTGGTTCTAAGACAGATTGCTCATCTGCCGCACTGTCAGAAATTACTCTCTTGTACAGGACATTTTCCACATCCACACCTTCTCTTCCTGCTTTGAGTATTTTAGAGGACTGTGCCTCGTAGTAAGAAAAAAATGAAACTCAGTTTCTTGAACCACAGGATAGAGCCTCCTCAAATCCAAATGCTACCAGCTCCAGCTCCCAGGATCCAGAGAGTTTGCAAGACAGAGGCGAAGGGAAGGTCGCAACAACAGTTATCTCCAAGATGCTATTCGTTGAACCCATCCTGGAGGTTTCCAGCTTGCCGACAACCAACTCAACAACCAATTCAGCCACCAAAATAACAGCTAATACCACTGATGAACCCACCACACAACCCACCACAGAGCCCACCACCCAACCCACCATCCAACCCACCCAACCAACTACCCAGCTCCCAACAGATTCTCCTACCCAGCCCACTACTGGGTCCTTCTGCCCAGGACCTGTTACTCTCTGCTCTGACTTGGAGAGTCATTCAACAGAGGCCGTGTTGGGGGATGCTTTGGTAGATTTCTCCCTGAAGCTCTACCACGCCTTCTCAGCAATGAAGAAGGTGGAGACCAACATGGCCTTTTCCCCATTCAGCATCGCCAGCCTCCTTACCCAGGTCCTGCTCGGTAAGACCCTGCTTGAATTCTCTCCAGGTCATTTGTTGGACACTCCCATAAGAGTCACCAATCCAGACACTTACAAAGCCATGCCTCTGGGAAGAAGCTGTAAAAATGGGCTATTATATATTGGGGGTGGGGTAGAGGGATGTATCTTTTCATTCTTGAACATTCCATCATTTCACAGTGATGTAATAGGCACGATTGCTTGTAAAACTCTGTGACTATACAAGAACATATAAAATAAGGTCGCAGCCACTAACCATGTTTCATGGCAAGGAGAGGTGATAAGAAAGATGAAATTAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCAGGGAGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGCAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGACCGCACCATTGCACTACAGTCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAATTATCAGAGATAGACCTAGAGTAGATGTGGTTAGTACTGCCTTCTAGCTCTGTGACCTTGGGCAGATCACTTTAACCTCTCTGAGCCTTGAGTCCTCTTGTGTAAAATAGTGATGATGCTATCTACCTCAAAAGATTAAGAAGCAGAAAGCCAGGCCGGATGCGGTGGTTCACACCTGTAATCCCAGCATTTTAGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAGAAATTAGCTAGGCATGGTGGTGCACACCTGTAACCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACACGGGAGGCAGAGGTTGCAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGAAGACTGAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAGCAGCCTAGTGTCTGACTTAGTGGGAGGTCAAAAAAATGTAAATCCTCTGCCATCTTGAGGGATTACTGTCAAGTCCCATTTGGTAATTACCCTAGGAATGGCACAAACAAATTACTACAAGCAGTGGGGACAGAGCTATTACTCCCCAGAGAGAATTCTAAAAAGGCTACAGAATCTTTCTTGGCTGGGCACGGTGACTCACACCTATAATCCTGGCACTTTGGGAGGCCAAGGCAGGAGTTCAAGACCAGCCTGGCCAACATGTTGAAACCCCATCTCTACTAAAAATGCAAAAATTAGCCAGGCATAGTGATGCATGCTTATTGTCCCAGCTACTTGGGAGGCAGAGGTGGGAGGATTGCTTGAACCTGGAGATTCAAGTGAGCTGAGATTGCACCACTGCATTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAGATTGAGAGAACACTTCCAGCTCAGATGATCTGTGATCCCCTCCAAAGCAGGGAATACCCTCCATTCCAGCCTGGTCCCCAACCCTCATTCCCAAGGAAGGCCCCCGACTCATCCTGCAAGTATCTTTCATCTCTGCCCTTTGTTGCAGGGGCTGGGGAGAACACCAAAACAAACCTGGAGAGCATCCTCTCTTACCCCAAGGACTTCACCTGTGTCCACCAGGCCCTGAAGGGCTTCACGACCAAAGGTGTCACCTCAGTCTCTCAGATCTTCCACAGCCCAGGTGAGTGCCCAGG | ACAGAGGGAGGAGCCAGGGAGAAGGTGGCCCCAGGAGGGAGGAGGAGGGAATTCGCTAAGAGGGACTGGGGCCTGAGACGGAATGGGGGCGGGCCCCGGGCGGGGTGGGGGCCCCTGGGCTCCCAGGGTGGGAGCTGGCTCCGAGGCTGGCTGGCTCCGCAGGTCCGCTGACGTCGCCGCCCAGATGGCCTCCAGGCTGACCCTGCTGACCCTCCTGCTGCTGCTGCTGGCTGGGGTATGTGGTCCCTTGTGGGATGGGGGACGGGGGTGGAGACGGGAGGCGGGATGGTGCGGGGTGCGGGCGGTGGCTGAGGATTAACCCTTCAGGCTCCGGGGAATGAGGAGAGCTCCTCTTGGGATCATTGAGTGTGATCCTTGCACACGCACTCGTAGATGGTGGAAAGAGCTCAGGACTCAGACAGATGCAAGTTCTAATCTTGGCGGGCCATGTAGGAGCTGCGCAGCGTGGTCCTGAGGACGTCACTTTTCTCAGCCTACTCCTCCTGATTTATAAAATGTTGAATAAACAGATCCCACCCTGTCCACCAAGCAGGCTTGGCAGGAGGATCACATAGGGCAAGGAGATGGGAAGCATTTTGTGATATCAAAGCAAGAGTTTGTTGTAGAAAAGAGCTGTGGGGAGGAGAGGTTTGGCTGCTGTGACACAGACGGTGGTCCCAGGCTAGGGCCTGTGAAGACAGGGAAGAATGGTAGCAAACATACGTGGGTCTGGGTGGGGGTCAATAGCAGTGAGAGGTCCCAGTGGTCTGGGAGGTCATGGACTAGAAATAAGGCTAAGAAGTGCAGGATCCCAGGAGAAAGGTAGGTAGGGGTGTGTGTATGTGCGTGTGTGTGTGTGTGCACGCGCAAGTTGGTATCACATACTCAGCAGATGATGTAGTTATGAGCAGGGAGTTTGGAATCAGAGACCTTGTTTTGACCCCTAGCTGTTTCTCCCATTTCTGTGAGACCCTGGACTAGTTAATATGTGTCGGTATGAGTTTCTCTACCTGTGAAATGGAGCTAATGCGTGGTTTCTCAGTGGAGGATCTGTTGACATTGGGGCTGGATAATTCATTGCTGAGGGGCTACCCTGCGCATTTTAGGATGTTTTGCAGTATATCTCTAGCCTCTACGCACTAGATTCCGGTAGCATCTTCCCTGCTGTCTCCCTGTGACAACCAAAAATGTCTCTGGACATTGCCAAATATCCCCTGGGAGTCAAAATTGTTTCAGAGCCGCTGGCCTATACTACTTCTCTCTCCCTCCCTTCCTGCCTCCCTTCTTTCCTCCTTCCCTTTCTTCGTTCCCTTCCTAATGTGTACTGTTTTTCCACACCCACTAATGGGTTGCAACCCACAGTTTAAAAATTTACTGTTCTAAATCAAGGAGCACAAGTTCAAATGTCTGTACTAGCCAAGCAAGTGAGTCAAACAGGTAGATATTTACAGGAAATTGCAAGAACATAGATAAATGACAACACTCAGCTTCACTGTTTGGAAAACAACTTCCTACAGGGCAGTAATTGGTCAGAGATTACAGAGTCCCTGACTATCCCTCATCTTCTGCAGAGCACATTCCTGTGCACCCCCACCCTCACCCTGTATTGCCCCTTCTCTGAGGAATTAGTGGTGGTGGTTCTAAGACAGATTGCTCATCTGCCGCACTGTCAGAAATTACTCTCTTGTACAGGACATTTTCCACATCCACACCTTCTCTTCCTGCTTTGAGTATTTTAGAGGACTGTGCCTCGTAGTAAGAAAAAAATGAAACTCAGTTTCTTGAACCACAGGATAGAGCCTCCTCAAATCCAAATGCTACCAGCTCCAGCTCCCAGGATCCAGAGAGTTTGCAAGACAGAGGCGAAGGGAAGGTCGCAACAACAGTTATCTCCAAGATGCTATTCGTTGAACCCATCCTGGAGGTTTCCAGCTTGCCGACAACCAACTCAACAACCAATTCAGCCACCAAAATAACAGCTAATACCACTGATGAACCCACCACACAACCCACCACAGAGCCCACCACCCAACCCACCATCCAACCCACCCAACTACCCAGCTCCCAACAGATTCTCCTACCCAGCCCACTACTGGGTCCTTCTGCCCAGGACCTGTTACTCTCTGCTCTGACTTGGAGAGTCATTCAACAGAGGCCGTGTTGGGGGATGCTTTGGTAGATTTCTCCCTGAAGCTCTACCACGCCTTCTCAGCAATGAAGAAGGTGGAGACCAACATGGCCTTTTCCCCATTCAGCATCGCCAGCCTCCTTACCCAGGTCCTGCTCGGTAAGACCCTGCTTGAATTCTCTCCAGGTCATTTGTTGGACACTCCCATAAGAGTCACCAATCCAGACACTTACAAAGCCATGCCTCTGGGAAGAAGCTGTAAAAATGGGCTATTATATATTGGGGGTGGGGTAGAGGGATGTATCTTTTCATTCTTGAACATTCCATCATTTCACAGTGATGTAATAGGCACGATTGCTTGTAAAACTCTGTGACTATACAAGAACATATAAAATAAGGTCGCAGCCACTAACCATGTTTCATGGCAAGGAGAGGTGATAAGAAAGATGAAATTAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCAGGGAGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGCAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGACCGCACCATTGCACTACAGTCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAATTATCAGAGATAGACCTAGAGTAGATGTGGTTAGTACTGCCTTCTAGCTCTGTGACCTTGGGCAGATCACTTTAACCTCTCTGAGCCTTGAGTCCTCTTGTGTAAAATAGTGATGATGCTATCTACCTCAAAAGATTAAGAAGCAGAAAGCCAGGCCGGATGCGGTGGTTCACACCTGTAATCCCAGCATTTTAGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAGAAATTAGCTAGGCATGGTGGTGCACACCTGTAACCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACACGGGAGGCAGAGGTTGCAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGAAGACTGAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAGCAGCCTAGTGTCTGACTTAGTGGGAGGTCAAAAAAATGTAAATCCTCTGCCATCTTGAGGGATTACTGTCAAGTCCCATTTGGTAATTACCCTAGGAATGGCACAAACAAATTACTACAAGCAGTGGGGACAGAGCTATTACTCCCCAGAGAGAATTCTAAAAAGGCTACAGAATCTTTCTTGGCTGGGCACGGTGACTCACACCTATAATCCTGGCACTTTGGGAGGCCAAGGCAGGAGTTCAAGACCAGCCTGGCCAACATGTTGAAACCCCATCTCTACTAAAAATGCAAAAATTAGCCAGGCATAGTGATGCATGCTTATTGTCCCAGCTACTTGGGAGGCAGAGGTGGGAGGATTGCTTGAACCTGGAGATTCAAGTGAGCTGAGATTGCACCACTGCATTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAGATTGAGAGAACACTTCCAGCTCAGATGATCTGTGATCCCCTCCAAAGCAGGGAATACCCTCCATTCCAGCCTGGTCCCCAACCCTCATTCCCAAGGAAGGCCCCCGACTCATCCTGCAAGTATCTTTCATCTCTGCCCTTTGTTGCAGGGGCTGGGGAGAACACCAAAACAAACCTGGAGAGCATCCTCTCTTACCCCAAGGACTTCACCTGTGTCCACCAGGCCCTGAAGGGCTTCACGACCAAAGGTGTCACCTCAGTCTCTCAGATCTTCCACAGCCCAGGTGAGTGCCCAGGNNNN | pathogenic | 176,319 |
A mutation at chromosome position 57602080 on chromosome 11 in gene SERPING1 (serpin family G member 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_angioedema_type_1'] | AACTCAACAACCAATTCAGCCACCAAAATAACAGCTAATACCACTGATGAACCCACCACACAACCCACCACAGAGCCCACCACCCAACCCACCATCCAACCCACCCAACCAACTACCCAGCTCCCAACAGATTCTCCTACCCAGCCCACTACTGGGTCCTTCTGCCCAGGACCTGTTACTCTCTGCTCTGACTTGGAGAGTCATTCAACAGAGGCCGTGTTGGGGGATGCTTTGGTAGATTTCTCCCTGAAGCTCTACCACGCCTTCTCAGCAATGAAGAAGGTGGAGACCAACATGGCCTTTTCCCCATTCAGCATCGCCAGCCTCCTTACCCAGGTCCTGCTCGGTAAGACCCTGCTTGAATTCTCTCCAGGTCATTTGTTGGACACTCCCATAAGAGTCACCAATCCAGACACTTACAAAGCCATGCCTCTGGGAAGAAGCTGTAAAAATGGGCTATTATATATTGGGGGTGGGGTAGAGGGATGTATCTTTTCATTCTTGAACATTCCATCATTTCACAGTGATGTAATAGGCACGATTGCTTGTAAAACTCTGTGACTATACAAGAACATATAAAATAAGGTCGCAGCCACTAACCATGTTTCATGGCAAGGAGAGGTGATAAGAAAGATGAAATTAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCAGGGAGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGCAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGACCGCACCATTGCACTACAGTCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAATTATCAGAGATAGACCTAGAGTAGATGTGGTTAGTACTGCCTTCTAGCTCTGTGACCTTGGGCAGATCACTTTAACCTCTCTGAGCCTTGAGTCCTCTTGTGTAAAATAGTGATGATGCTATCTACCTCAAAAGATTAAGAAGCAGAAAGCCAGGCCGGATGCGGTGGTTCACACCTGTAATCCCAGCATTTTAGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAGAAATTAGCTAGGCATGGTGGTGCACACCTGTAACCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACACGGGAGGCAGAGGTTGCAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGAAGACTGAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAGCAGCCTAGTGTCTGACTTAGTGGGAGGTCAAAAAAATGTAAATCCTCTGCCATCTTGAGGGATTACTGTCAAGTCCCATTTGGTAATTACCCTAGGAATGGCACAAACAAATTACTACAAGCAGTGGGGACAGAGCTATTACTCCCCAGAGAGAATTCTAAAAAGGCTACAGAATCTTTCTTGGCTGGGCACGGTGACTCACACCTATAATCCTGGCACTTTGGGAGGCCAAGGCAGGAGTTCAAGACCAGCCTGGCCAACATGTTGAAACCCCATCTCTACTAAAAATGCAAAAATTAGCCAGGCATAGTGATGCATGCTTATTGTCCCAGCTACTTGGGAGGCAGAGGTGGGAGGATTGCTTGAACCTGGAGATTCAAGTGAGCTGAGATTGCACCACTGCATTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAGATTGAGAGAACACTTCCAGCTCAGATGATCTGTGATCCCCTCCAAAGCAGGGAATACCCTCCATTCCAGCCTGGTCCCCAACCCTCATTCCCAAGGAAGGCCCCCGACTCATCCTGCAAGTATCTTTCATCTCTGCCCTTTGTTGCAGGGGCTGGGGAGAACACCAAAACAAACCTGGAGAGCATCCTCTCTTACCCCAAGGACTTCACCTGTGTCCACCAGGCCCTGAAGGGCTTCACGACCAAAGGTGTCACCTCAGTCTCTCAGATCTTCCACAGCCCAGGTGAGTGCCCAGGAATGGGCAGTGTCTGCAGAGGAGGGTCCTGAGAGGACTCTGAAGGGGGACCCAGCGCTGGGGAAAGAAAGGACAGAGGGAATGTTGGAGCTACAGTATCAGGGATGGACTGCAGAGCAGGTGAAGACCTTGGCAGGAGCATTAGGTCACTCCAGGAACTAGACTGTTCTTCTAATGAGACCTTAGACAAGTCTCTGGCATTCATCAACTGCTTTAGAATAAAAATAACCGGGCAGGTACAGTAAAATAGTGATGATGCTATCTACCTCAAAAGATTAAGAAGCAGAAAGCCAGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGGGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATGACGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAACAAAAACAAAACAAAAACAAAAAAAAAAACAAAGAAGGAGAAAGCCGGGCCGGGCATGGTGGCTCTCATCTGTAAGTTCAAGGAGTTGAAGGTATGCTAGGACTTTGGGAGGCCAAGGCCTTCAAGACCAGCCTGGGCAGCATGGCGAAACCTGTCTCCATTAAAAAAAAAAAAGTTGGGGGTACGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGAACACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTATTAAAAACACAAAAATTAGCCTGGCATGGTGGCAGGCGCCTATAATCCCAACTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAAGAGAGTGAAGGTTGCAGTGAGCTGAGATCATGCCACTTCACTCCAGCCTGAGTGAAACAGCAAAACTCTGTCTCAAAAAAAAAAAAAGGAAGAAAGAAAAAAGGCCAGGCGCGGTGACTCACGCCTGTAATCGCAACACTTTGGCAGGCCGAGGCAGGCGATTCACAAGGTCAGGAGTTCGAGACCAGTCTGGCTAACTAACATAGTGAAACTCCGTCTCTACTGAAAATACAAGAAATTACCCTGGCATGGTGGTGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCTGTCTCAAAAAAAAAAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGACCACGAGGTCAGAAGATCAAGACCATCCTGGCTAACAAGATGAAACCCTGTCTCTGCCAAAAAAATACAAAACTTAGCCGGGCATGGTGGCAGGCGCCTGTGGTCCCAACTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACACCATCTCAAAAAAAAAAAAAAAAAATGGGGCGGGCGGGCCAGGCGCGGTGTCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACACCAGGAAACCCTGTCTCTGTTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACGCGCCTGTAGTCCCAGCAGGAGAATAACTTCAACCTGGGAGACAGAGGTTGCAGTCAGCTGAGATCGCACCACTGCATTCCAGCCTGGGTGACAGACCGAGACTCTG | AACTCAACAACCAATTCAGCCACCAAAATAACAGCTAATACCACTGATGAACCCACCACACAACCCACCACAGAGCCCACCACCCAACCCACCATCCAACCCACCCAACCAACTACCCAGCTCCCAACAGATTCTCCTACCCAGCCCACTACTGGGTCCTTCTGCCCAGGACCTGTTACTCTCTGCTCTGACTTGGAGAGTCATTCAACAGAGGCCGTGTTGGGGGATGCTTTGGTAGATTTCTCCCTGAAGCTCTACCACGCCTTCTCAGCAATGAAGAAGGTGGAGACCAACATGGCCTTTTCCCCATTCAGCATCGCCAGCCTCCTTACCCAGGTCCTGCTCGGTAAGACCCTGCTTGAATTCTCTCCAGGTCATTTGTTGGACACTCCCATAAGAGTCACCAATCCAGACACTTACAAAGCCATGCCTCTGGGAAGAAGCTGTAAAAATGGGCTATTATATATTGGGGGTGGGGTAGAGGGATGTATCTTTTCATTCTTGAACATTCCATCATTTCACAGTGATGTAATAGGCACGATTGCTTGTAAAACTCTGTGACTATACAAGAACATATAAAATAAGGTCGCAGCCACTAACCATGTTTCATGGCAAGGAGAGGTGATAAGAAAGATGAAATTAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCAGGGAGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGCAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGACCGCACCATTGCACTACAGTCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAATTATCAGAGATAGACCTAGAGTAGATGTGGTTAGTACTGCCTTCTAGCTCTGTGACCTTGGGCAGATCACTTTAACCTCTCTGAGCCTTGAGTCCTCTTGTGTAAAATAGTGATGATGCTATCTACCTCAAAAGATTAAGAAGCAGAAAGCCAGGCCGGATGCGGTGGTTCACACCTGTAATCCCAGCATTTTAGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAGAAATTAGCTAGGCATGGTGGTGCACACCTGTAACCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACACGGGAGGCAGAGGTTGCAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGAAGACTGAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAGCAGCCTAGTGTCTGACTTAGTGGGAGGTCAAAAAAATGTAAATCCTCTGCCATCTTGAGGGATTACTGTCAAGTCCCATTTGGTAATTACCCTAGGAATGGCACAAACAAATTACTACAAGCAGTGGGGACAGAGCTATTACTCCCCAGAGAGAATTCTAAAAAGGCTACAGAATCTTTCTTGGCTGGGCACGGTGACTCACACCTATAATCCTGGCACTTTGGGAGGCCAAGGCAGGAGTTCAAGACCAGCCTGGCCAACATGTTGAAACCCCATCTCTACTAAAAATGCAAAAATTAGCCAGGCATAGTGATGCATGCTTATTGTCCCAGCTACTTGGGAGGCAGAGGTGGGAGGATTGCTTGAACCTGGAGATTCAAGTGAGCTGAGATTGCACCACTGCATTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAGATTGAGAGAACACTTCCAGCTCAGATGATCTGTGATCCCCTCCAAAGCAGGGAATACCCTCCATTCCAGCCTGGTCCCCAACCCTCATTCCCAAGGAAGGCCCCCGACTCATCCTGCAAGTATCTTTCATCTCTGCCCTTTGTTGCAGGGGCTGGGGAGAACACCAAAACAAACCTGGAGAGCATCCTCTCTTACCCCCAAGGACTTCACCTGTGTCCACCAGGCCCTGAAGGGCTTCACGACCAAAGGTGTCACCTCAGTCTCTCAGATCTTCCACAGCCCAGGTGAGTGCCCAGGAATGGGCAGTGTCTGCAGAGGAGGGTCCTGAGAGGACTCTGAAGGGGGACCCAGCGCTGGGGAAAGAAAGGACAGAGGGAATGTTGGAGCTACAGTATCAGGGATGGACTGCAGAGCAGGTGAAGACCTTGGCAGGAGCATTAGGTCACTCCAGGAACTAGACTGTTCTTCTAATGAGACCTTAGACAAGTCTCTGGCATTCATCAACTGCTTTAGAATAAAAATAACCGGGCAGGTACAGTAAAATAGTGATGATGCTATCTACCTCAAAAGATTAAGAAGCAGAAAGCCAGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGGGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATGACGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAACAAAAACAAAACAAAAACAAAAAAAAAAACAAAGAAGGAGAAAGCCGGGCCGGGCATGGTGGCTCTCATCTGTAAGTTCAAGGAGTTGAAGGTATGCTAGGACTTTGGGAGGCCAAGGCCTTCAAGACCAGCCTGGGCAGCATGGCGAAACCTGTCTCCATTAAAAAAAAAAAAGTTGGGGGTACGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGAACACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTATTAAAAACACAAAAATTAGCCTGGCATGGTGGCAGGCGCCTATAATCCCAACTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAAGAGAGTGAAGGTTGCAGTGAGCTGAGATCATGCCACTTCACTCCAGCCTGAGTGAAACAGCAAAACTCTGTCTCAAAAAAAAAAAAAGGAAGAAAGAAAAAAGGCCAGGCGCGGTGACTCACGCCTGTAATCGCAACACTTTGGCAGGCCGAGGCAGGCGATTCACAAGGTCAGGAGTTCGAGACCAGTCTGGCTAACTAACATAGTGAAACTCCGTCTCTACTGAAAATACAAGAAATTACCCTGGCATGGTGGTGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCTGTCTCAAAAAAAAAAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGACCACGAGGTCAGAAGATCAAGACCATCCTGGCTAACAAGATGAAACCCTGTCTCTGCCAAAAAAATACAAAACTTAGCCGGGCATGGTGGCAGGCGCCTGTGGTCCCAACTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACACCATCTCAAAAAAAAAAAAAAAAAATGGGGCGGGCGGGCCAGGCGCGGTGTCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACACCAGGAAACCCTGTCTCTGTTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACGCGCCTGTAGTCCCAGCAGGAGAATAACTTCAACCTGGGAGACAGAGGTTGCAGTCAGCTGAGATCGCACCACTGCATTCCAGCCTGGGTGACAGACCGAGACTCT | pathogenic | 176,333 |
Variant at chromosome 11, position 57606133, gene SERPING1 (serpin family G member 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_angioedema_type_1'] | TCGCACCACTGCATTCCAGCCTGGGTGACAGACCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAGAATACCCATATGCATTCATTAATATATAGGGCTAGAGGGCTAGAGAGCTATAGACATAAAATAGACAAAAAATTTTTTTGCTCATTTTTGGGTCAAAGGAGTCTTGGGACTCTAATTCTTTTAATTTTTGTGTTATGTGAATTTGTTATCATTTACATGTATTATGTTATTAAGTAGGTAATAATGATAATACTAATAATAAACTTACAAAACGATCCAATGTAGTTGTTTTCAGACTTTGTTCCTCGGAGCCCTAGGACTTTGCAAAGCTGTTTCTGGAGTCATGGTGGGAGTGGGGTGTGGGGAGCCTGAGCAGTGGGGAAGGGTTCACCACTTCCTGTGAGAGGGAAACGGACCAGCTGGGCTCTGAGCTCCCCACCCAGCCTCAGCCAGGGTCCATTTTATATTGTGGGCTTCAGACATGCCTTTGTTTGAAAGCAGTTCTGCTGCTTTAAAATGTTTGATAACCATTGAACTAATCTACCCACCTCCCTTTTTAAAAAAAAAAGGAAAACTTTTTTTTAAGCTGTTTTTTTTGTTTTTTGTTTTTTTTTAAACTGTAAAAACAATACTTAGGTCTGGCTCAGTGTGCCTGTAATTCCAACACTGAGAGGCTGAGGTAGGAGGATTGCTTGAGGCTAGAATTTCGAGACTAGCCTCTGGGCAACATAGACAGACCTCATCTCTACAAAAAATTTTAAAAATTATCCGGGTGTGGTACGTGTCTGTAGTTCCAGCTATGAAGGACTGAGACGGGAGGATTGCTTGAGCCAAGGAATTCGAAGTTAGAGTGAGCTATGTTTATGCCTCTGTACTCTAGGTTGGGTAACAGAGTAGGACCCTGTCTCTAAAAAAAAAAAAATTTAATTTAAATTTTAAAAACTCACCTATCACCCCATCATCTGAAAAACACCCTCTTTCAGATGTGGGAAAAACATGGCTCAGAGGTGTTCAAGAAATGTTGCATTTATTTATTACTTACAAAGCTGTAAGTCAGCTTTATCCGCTGTCTTGCTAGGTTGGTGAAAAATACGTAACAGCATTCAATATTAGGGCTTCTATCCCCATCTAGCTGCACACTGGAGCTGTGCCAAGCAAGGTTCTTGGTCTTATGTTGTACTTAGGCATCAGCAAAGCCTGGGAAAATATCTTTTTTTTTTTTTTGAGACAGAATCTCGCTCTGTCGCCCAGGCTGGAATGCAGTGGCACCATCTCAGCTCACTGCAACCTCCGTCTCCCAGATTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGATTACAGGCTGGTCTTGAACTCCTGGCCTCCAGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCTGGGGAAAATATCTTTAATCTACTTAGTCCTAGAAAAATTATCTTTCAAGTGCTTTTTTTTTTTTTTTTTCAGTGGACTGAAGGCTTTTGCAGAGCAAAAGCCAGGAAGTTTTGTCACAAACTTCCACCAAGGCCAGGAAGCAGAGTCTATTCCGTGCCAAAATTAAGGGAAGAAAAGAGGGAAAATCTAGGCAAATGGAATTTAATATCTCAAAAAGATTATCTTGCCGAGCCATAGTCACATAGCAAGCTGAGGCAGCGGAGGCTTGGGGCTACTTCTCTTGTTCTTGGTTCTGGGTTTACCTTCTTTGGGCCTTATTTGCCACATCTGTAAGAGGAGTGGGCTGGACCGCGCTCCACCATGCCGTATTCACTAAGTGAGCAGATAGAACCATAGAAAGCATGCTCACTCTCAAATCGTGCTCATGGAAAGAACGACGTGTTCAGGACTCATGCCTCCCTTTCTCAACATACCCCCAGACCTGGCCATAAGGGACACCTTTGTGAATGCCTCTCGGACCCTGTACAGCAGCAGCCCCAGAGTCCTAAGCAACAACAGTGACGCCAACTTGGAGCTCATCAACACCTGGGTGGCCAAGAACACCAACAACAAGATCAGCCGGCTGCTAGACAGTCTGCCCTCCGATACCCGCCTTGTCCTCCTCAATGCTATCTACCTGAGTGGTAAGGGTGCCCTTAGCCAGTTAGTCTTCCCATTCTGGGTCCTTCTTCCCCTCCTGGCTTCAAAGCCCACTTAACCCCAAGTTCTACAATCGGATCTCAATGTCCCTGCACTACTCTTTGCTAACAAGGCTTTTAGCTCCTCTTCATCCTTTTCCTACCTGCATTAGAGCAACCCTCCCACCTCTTCCCTCTAGCCAAGTGGAAGACAACATTTGATCCCAAGAAAACCAGAATGGAACCCTTTCACTTCAAAAACTCAGTTATAAAAGTGCCCATGATGAATAGCAAGAAGTACCCTGTGGCCCATTTCATTGACCAAACTTTGAAAGCCAAGGTAAGTTCTTAACCTTTCCTTCTCCTGTTTGAAACCTACTTGAGTCTCCTGACTTTTTTTCTGCTGTAGTCCCATCATTTTGGGGTACATGCTTACAAATTCATCACTTCTACTCCTTCCATCTGTATTTCCACCCTATCTTTTCTCCTTCTCCTTTCTCTAGCCTTGGCCAAGGCAGACATTGTATATTTTAGGCTGGAAACAGGATTCTCAAGTTTCTTCATGCATCTCTACTATATTGAATGGCAAAATGTGAGTCGTGTTCCTATTCTACACATCTGTTTCTTTTTCCAGTCAACTCATCAGAAGACTCTGGTGGCTTAGCAAGTCCTGTGTGTATGTGGGTACCTGTGTACAGCATACATATACATGTGTAGACGTGTATAAGTATATCCTTGTATATGCATATATGTGGTAAGTGCATGTGTGCACATGAGTTAAATGGCTTAAGTGCATTAGCAGAAATTGAACAATTTAGTTTGATGAGTAGGGAGGGAGAGAAGACAGAATATGGAGCCCAGAGGATCCCAACTGGCAAGCTATCTCATCCCCAGTTACCAGATATTTCCACCTTTTTAGGATGGCAAAACACAGACCTATGAGACAGAAAACAGTAAGAGACAATGTCTCAATACCTGGCTGAGAAACAAAGGCTCTGTTCTTGGAACATGCTAGGCTTGGTTCCACATTGGGAGCTTTCCTTAGCTTTTGTTTCTGCCTGTATCCCTCTTCACTCAGATCCTCACATAGCTTGTTCCTTCTTGTCATTTGGGTGTCAGCTCAGAGGTCACCTTGGTGGAGAAGTCTTCTCCCCATTAAAGCAGCCTCCTCCTCACCCTGTAATATCACTCCTGTTTTATTATATTCATTACACTCATCACCATCTGAAATTATGTCATTTATTTGCTTATTTGCCTAGGACATTGTCTGTCTCCCTAAGATACTGTCTCTCTACTTGAATACAGGAACCTGTCTTGTTTCCTTCTGTATCTGTAGTGCCTAGAACAATGCCTCCTATCATAGGTGCTCATTCAGTGTTTGCTGAATAAATGAATGAATGAAATAGAGGGTGCCAAAGAGAGCTACTCAGTAAAAGTGGCTGGAAGACTTCATAGAGGAGGGTTTTTTTCGAGACAGGGTCTCACTCTGTCACTCAAGCTGCAGTGCATTGACATGATCTCAGCTCACTGCAATCTCTGCCTCCCGAGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGAGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACACCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCATGAGCCACAGCGCCCAGCTGAGGAGGTTATTTTTGACCATTCTTTGCTCAGTTATTTATCCACTCATGGACTTATCCACCCATCTATCCATCCCTATCTAATGTATTTGACCATTCATGACTCATTTAGCAGAACCAGGACAGCCTGTATAAGGCACAGAAGAGTGAATATATGTGACAGGTCCAGAGCATTGTTCAAATTCAAGATACGTTGGGGGAGGTATAAATATGAGATTTTTTTC | TCGCACCACTGCATTCCAGCCTGGGTGACAGACCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAGAATACCCATATGCATTCATTAATATATAGGGCTAGAGGGCTAGAGAGCTATAGACATAAAATAGACAAAAAATTTTTTTGCTCATTTTTGGGTCAAAGGAGTCTTGGGACTCTAATTCTTTTAATTTTTGTGTTATGTGAATTTGTTATCATTTACATGTATTATGTTATTAAGTAGGTAATAATGATAATACTAATAATAAACTTACAAAACGATCCAATGTAGTTGTTTTCAGACTTTGTTCCTCGGAGCCCTAGGACTTTGCAAAGCTGTTTCTGGAGTCATGGTGGGAGTGGGGTGTGGGGAGCCTGAGCAGTGGGGAAGGGTTCACCACTTCCTGTGAGAGGGAAACGGACCAGCTGGGCTCTGAGCTCCCCACCCAGCCTCAGCCAGGGTCCATTTTATATTGTGGGCTTCAGACATGCCTTTGTTTGAAAGCAGTTCTGCTGCTTTAAAATGTTTGATAACCATTGAACTAATCTACCCACCTCCCTTTTTAAAAAAAAAAGGAAAACTTTTTTTTAAGCTGTTTTTTTTGTTTTTTGTTTTTTTTTAAACTGTAAAAACAATACTTAGGTCTGGCTCAGTGTGCCTGTAATTCCAACACTGAGAGGCTGAGGTAGGAGGATTGCTTGAGGCTAGAATTTCGAGACTAGCCTCTGGGCAACATAGACAGACCTCATCTCTACAAAAAATTTTAAAAATTATCCGGGTGTGGTACGTGTCTGTAGTTCCAGCTATGAAGGACTGAGACGGGAGGATTGCTTGAGCCAAGGAATTCGAAGTTAGAGTGAGCTATGTTTATGCCTCTGTACTCTAGGTTGGGTAACAGAGTAGGACCCTGTCTCTAAAAAAAAAAAAATTTAATTTAAATTTTAAAAACTCACCTATCACCCCATCATCTGAAAAACACCCTCTTTCAGATGTGGGAAAAACATGGCTCAGAGGTGTTCAAGAAATGTTGCATTTATTTATTACTTACAAAGCTGTAAGTCAGCTTTATCCGCTGTCTTGCTAGGTTGGTGAAAAATACGTAACAGCATTCAATATTAGGGCTTCTATCCCCATCTAGCTGCACACTGGAGCTGTGCCAAGCAAGGTTCTTGGTCTTATGTTGTACTTAGGCATCAGCAAAGCCTGGGAAAATATCTTTTTTTTTTTTTTGAGACAGAATCTCGCTCTGTCGCCCAGGCTGGAATGCAGTGGCACCATCTCAGCTCACTGCAACCTCCGTCTCCCAGATTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGATTACAGGCTGGTCTTGAACTCCTGGCCTCCAGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCTGGGGAAAATATCTTTAATCTACTTAGTCCTAGAAAAATTATCTTTCAAGTGCTTTTTTTTTTTTTTTTTCAGTGGACTGAAGGCTTTTGCAGAGCAAAAGCCAGGAAGTTTTGTCACAAACTTCCACCAAGGCCAGGAAGCAGAGTCTATTCCGTGCCAAAATTAAGGGAAGAAAAGAGGGAAAATCTAGGCAAATGGAATTTAATATCTCAAAAAGATTATCTTGCCGAGCCATAGTCACATAGCAAGCTGAGGCAGCGGAGGCTTGGGGCTACTTCTCTTGTTCTTGGTTCTGGGTTTACCTTCTTTGGGCCTTATTTGCCACATCTGTAAGAGGAGTGGGCTGGACCGCGCTCCACCATGCCGTATTCACTAAGTGAGCAGATAGAACCATAGAAAGCATGCTCACTCTCAAATCGTGCTCATGGAAAGAACGACGTGTTCAGGACTCATGCCTCCCTTTCTCAACATACCCCCAGACCTGGCCATAAGGGACACCTTTGTGAATGCCTCTCGGACCCTGTACAGCAGCAGCCCCAGAGTCCTAAGCAACAACAGTGACGCCAACTTGGAGCTCATCAACACCTGGGTGGCCAAGAACACCAACAAGATCAGCCGGCTGCTAGACAGTCTGCCCTCCGATACCCGCCTTGTCCTCCTCAATGCTATCTACCTGAGTGGTAAGGGTGCCCTTAGCCAGTTAGTCTTCCCATTCTGGGTCCTTCTTCCCCTCCTGGCTTCAAAGCCCACTTAACCCCAAGTTCTACAATCGGATCTCAATGTCCCTGCACTACTCTTTGCTAACAAGGCTTTTAGCTCCTCTTCATCCTTTTCCTACCTGCATTAGAGCAACCCTCCCACCTCTTCCCTCTAGCCAAGTGGAAGACAACATTTGATCCCAAGAAAACCAGAATGGAACCCTTTCACTTCAAAAACTCAGTTATAAAAGTGCCCATGATGAATAGCAAGAAGTACCCTGTGGCCCATTTCATTGACCAAACTTTGAAAGCCAAGGTAAGTTCTTAACCTTTCCTTCTCCTGTTTGAAACCTACTTGAGTCTCCTGACTTTTTTTCTGCTGTAGTCCCATCATTTTGGGGTACATGCTTACAAATTCATCACTTCTACTCCTTCCATCTGTATTTCCACCCTATCTTTTCTCCTTCTCCTTTCTCTAGCCTTGGCCAAGGCAGACATTGTATATTTTAGGCTGGAAACAGGATTCTCAAGTTTCTTCATGCATCTCTACTATATTGAATGGCAAAATGTGAGTCGTGTTCCTATTCTACACATCTGTTTCTTTTTCCAGTCAACTCATCAGAAGACTCTGGTGGCTTAGCAAGTCCTGTGTGTATGTGGGTACCTGTGTACAGCATACATATACATGTGTAGACGTGTATAAGTATATCCTTGTATATGCATATATGTGGTAAGTGCATGTGTGCACATGAGTTAAATGGCTTAAGTGCATTAGCAGAAATTGAACAATTTAGTTTGATGAGTAGGGAGGGAGAGAAGACAGAATATGGAGCCCAGAGGATCCCAACTGGCAAGCTATCTCATCCCCAGTTACCAGATATTTCCACCTTTTTAGGATGGCAAAACACAGACCTATGAGACAGAAAACAGTAAGAGACAATGTCTCAATACCTGGCTGAGAAACAAAGGCTCTGTTCTTGGAACATGCTAGGCTTGGTTCCACATTGGGAGCTTTCCTTAGCTTTTGTTTCTGCCTGTATCCCTCTTCACTCAGATCCTCACATAGCTTGTTCCTTCTTGTCATTTGGGTGTCAGCTCAGAGGTCACCTTGGTGGAGAAGTCTTCTCCCCATTAAAGCAGCCTCCTCCTCACCCTGTAATATCACTCCTGTTTTATTATATTCATTACACTCATCACCATCTGAAATTATGTCATTTATTTGCTTATTTGCCTAGGACATTGTCTGTCTCCCTAAGATACTGTCTCTCTACTTGAATACAGGAACCTGTCTTGTTTCCTTCTGTATCTGTAGTGCCTAGAACAATGCCTCCTATCATAGGTGCTCATTCAGTGTTTGCTGAATAAATGAATGAATGAAATAGAGGGTGCCAAAGAGAGCTACTCAGTAAAAGTGGCTGGAAGACTTCATAGAGGAGGGTTTTTTTCGAGACAGGGTCTCACTCTGTCACTCAAGCTGCAGTGCATTGACATGATCTCAGCTCACTGCAATCTCTGCCTCCCGAGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGAGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACACCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCATGAGCCACAGCGCCCAGCTGAGGAGGTTATTTTTGACCATTCTTTGCTCAGTTATTTATCCACTCATGGACTTATCCACCCATCTATCCATCCCTATCTAATGTATTTGACCATTCATGACTCATTTAGCAGAACCAGGACAGCCTGTATAAGGCACAGAAGAGTGAATATATGTGACAGGTCCAGAGCATTGTTCAAATTCAAGATACGTTGGGGGAGGTATAAATATGAGATTTTTTTCNNN | pathogenic | 176,343 |
The chromosome 11, position 57611843 genetic variant in gene SERPING1 (serpin family G member 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_angioedema_type_1'] | TTACTCTATCACCCAGTCTGGAGTACAGTGACACAATCCTCACTTACTGTAACCTCAAGCTCCTTGGGATGAAGCAGTCCTCCCACCCTAGCCTCTTAAGTAGCTGAGATTCCAGGCATGAGCCACCTCACCCAGCTGATTTTCTTTTTAAACACATCTAATACCTGACAGGTCGTAATTACGACTGTGCTTGGCCATATCATCCTAACACCTAAAGCTCACTTGTAAACTGAAAATTAAATTTGAAGGGTGAATTAACTTCTAGCCAACATTCCAATATCATTCTCACATTTAATGAAATTATCCTACAACTTTGCTTAAAAGCATAAAACTAGCATGTCAGAGTCTCTTAAAAATTACAATCACTATTTTAAATAACAAACATACAGGTTACCCTGAACTTAACACCTGGTTTTAACATGATGAAGTTGGTTTCTTTTGTCATTCTTATACTAAATTCTAAATCTTCCTGGCACTTAAGGATATTTACCCAAGGAAGGGGGTGAGATTTACCGGCTCAGGTACACCGAGGTTACTGGCTTGAAAATTCAAGACCACAGCATGGTAAATTTTTCTTCAGAGATTCAAGGTTCATACATAGGACTTGAAGGGCACATGCTACTCAAATGAGTATATCCAACTTGAGTGCTACATCAACAGGGACCCCATGTCCACTCTTTTCAGTCGAAATTGGCTTACTATCTACTTCTTCTGGGCTATTCAGGTTCCGACAATTGATTGCTTTCAGTTAATTTCTTTATTGCCCAGTTGAATTCTGCATTCTTCTAGATTCTTTTTGTTCCTTCAGCCTCAATCATAATACCATTTAATGACAGTCTCATATCCTATTAGACTAGGGTTTCTCAGCCTTGGCACTATTGACATATTGGGTCAGATAATTCTTTGTCCTGTGCATTGTAGAATTTAGCATCTTCCTTAGCTTCTACTCACTAGAAGCCAGTAGCACTGTGTGCACATCCTCCTTGCCCCCTGCCAGCTATGACAACCAAAATGTCTCCAGACATTACCAAATGTCCACTGAGAGGCAAATTCACTCCGAGTTGACAACCCCTGTATTAAACCCAGGGGCCCTGCACTTCTTACATACTTTTGTCTGGTCACCAGTTGAAAGTCCTTCTTCTTTTTTTTTTCTCTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAGCCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGTGCCACCACCCAGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCATCATGGTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCATGACCAAAAGTCCTTCTAATAGCAAAGTGGAAAGGTAGGCTGTGAACAATCTTGAATGCCATACTAAGATTTGTACTTATTCTCATAGGCAGTGAAGAGCCATCAATAGTTTTTACAGAGGCTGACCTGATAACTCTGGCGGTTCAATGTGCATGCTATATACTATATGCACAACACATTAGGAAGGAAGGGAACAGCGCTCAGAGAAATCAAATCACTTGCCCATATTACATAGCTCGTCAGTGGTGGAGTCAGGGTATAATCAGAAACTCATGCTCCTTCCTCTACCTCTCCCCAGCACAGAGTTGGATCAGCACTGTTCACCCAGCTGGTATCCCCATTTCATGGTAAAGCCTGGAAGCTTAGGTCTGACTGATGCTTGTTGAAATACAGACTGTGGGAGCAGACTGCAGGACAGCATTGTGACAGAGGGTGGGGCCAGGAGAGAGATGCGGTAGGAAGACTGTTAAGATGCATCTCTTATTTTCTAGGTGGGGCAGCTGCAGCTCTCCCACAATCTGAGTTTGGTGATCCTGGTACCCCAGAACCTGAAACATCGTCTTGAAGACATGGAACAGGCTCTCAGCCCTTCTGTTTTCAAGGCCATCATGGAGAAACTGGAGATGTCCAAGTTCCAGCCCACTCTCCTAACACTACCCCGCATCAAAGTGACGACCAGCCAGGATATGCTCTCAATCATGGAGAAATTGGGTGAGCTCTGGCAGCTTAGGGTTACTCCCAGGCCATCAGAGGAGAAAGGGGGGATCCCTAAGATGTAGTTAGCATTCTCTAGAGTATTTTTTACATCCATAATCTCAGTTTGTCCTGCAACCCTGCAAGTTAGAGGGGTAGGTGCTATTATCCCATTGGATCATTGTGGAAATGGAGGCTCAGAAGCTTTATGTGACTTACCCAGAGATTCCATGATTTACCCTTGAGCTAGTCAGAGGCAAACCAGAACACCGACCCAGGTCTCCAGCTCTCCTGAGTTTTTTCTATGGTTCCTTGTGACATAGGCAGTGGAACAGTGGGACAGGTAACCGAGGTGAATTATGGATGCTCCTTCCCCAGACACATTTCAAAACAGTCAGCCACCCCGTGGAATATGCAAGAAGCTATCTGGAAGTGCAGATCTGGAGGCTTCTGAGTTTACGAGAGGCAACAGAGACTCCATTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGT | TTACTCTATCACCCAGTCTGGAGTACAGTGACACAATCCTCACTTACTGTAACCTCAAGCTCCTTGGGATGAAGCAGTCCTCCCACCCTAGCCTCTTAAGTAGCTGAGATTCCAGGCATGAGCCACCTCACCCAGCTGATTTTCTTTTTAAACACATCTAATACCTGACAGGTCGTAATTACGACTGTGCTTGGCCATATCATCCTAACACCTAAAGCTCACTTGTAAACTGAAAATTAAATTTGAAGGGTGAATTAACTTCTAGCCAACATTCCAATATCATTCTCACATTTAATGAAATTATCCTACAACTTTGCTTAAAAGCATAAAACTAGCATGTCAGAGTCTCTTAAAAATTACAATCACTATTTTAAATAACAAACATACAGGTTACCCTGAACTTAACACCTGGTTTTAACATGATGAAGTTGGTTTCTTTTGTCATTCTTATACTAAATTCTAAATCTTCCTGGCACTTAAGGATATTTACCCAAGGAAGGGGGTGAGATTTACCGGCTCAGGTACACCGAGGTTACTGGCTTGAAAATTCAAGACCACAGCATGGTAAATTTTTCTTCAGAGATTCAAGGTTCATACATAGGACTTGAAGGGCACATGCTACTCAAATGAGTATATCCAACTTGAGTGCTACATCAACAGGGACCCCATGTCCACTCTTTTCAGTCGAAATTGGCTTACTATCTACTTCTTCTGGGCTATTCAGGTTCCGACAATTGATTGCTTTCAGTTAATTTCTTTATTGCCCAGTTGAATTCTGCATTCTTCTAGATTCTTTTTGTTCCTTCAGCCTCAATCATAATACCATTTAATGACAGTCTCATATCCTATTAGACTAGGGTTTCTCAGCCTTGGCACTATTGACATATTGGGTCAGATAATTCTTTGTCCTGTGCATTGTAGAATTTAGCATCTTCCTTAGCTTCTACTCACTAGAAGCCAGTAGCACTGTGTGCACATCCTCCTTGCCCCCTGCCAGCTATGACAACCAAAATGTCTCCAGACATTACCAAATGTCCACTGAGAGGCAAATTCACTCCGAGTTGACAACCCCTGTATTAAACCCAGGGGCCCTGCACTTCTTACATACTTTTGTCTGGTCACCAGTTGAAAGTCCTTCTTCTTTTTTTTTTCTCTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAGCCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGTGCCACCACCCAGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCATCATGGTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCATGACCAAAAGTCCTTCTAATAGCAAAGTGGAAAGGTAGGCTGTGAACAATCTTGAATGCCATACTAAGATTTGTACTTATTCTCATAGGCAGTGAAGAGCCATCAATAGTTTTTACAGAGGCTGACCTGATAACTCTGGCGGTTCAATGTGCATGCTATATACTATATGCACAACACATTAGGAAGGAAGGGAACAGCGCTCAGAGAAATCAAATCACTTGCCCATATTACATAGCTCGTCAGTGGTGGAGTCAGGGTATAATCAGAAACTCATGCTCCTTCCTCTACCTCTCCCCAGCACAGAGTTGGATCAGCACTGTTCACCCAGCTGGTATCCCCATTTCATGGTAAAGCCTGGAAGCTTAGGTCTGACTGATGCTTGTTGAAATACAGACTGTGGGAGCAGACTGCAGGACAGCATTGTGACAGAGGGTGGGGCCAGGAGAGAGATGCGGTAGGAAGACTGTTAAGATGCATCTCTTATTTTCTAGGTGGGGCAGCTGCAGCTCTCCCACAATCTGAGTTTGGTGATCCTGGTACCCCAGAACCTGAAACATCGTCTTGAAGACATGGAACAGGCTCTCAGCCCTTCTGTTTTCAAGGCCATCATGGAGAAACGAGATGTCCAAGTTCCAGCCCACTCTCCTAACACTACCCCGCATCAAAGTGACGACCAGCCAGGATATGCTCTCAATCATGGAGAAATTGGGTGAGCTCTGGCAGCTTAGGGTTACTCCCAGGCCATCAGAGGAGAAAGGGGGGATCCCTAAGATGTAGTTAGCATTCTCTAGAGTATTTTTTACATCCATAATCTCAGTTTGTCCTGCAACCCTGCAAGTTAGAGGGGTAGGTGCTATTATCCCATTGGATCATTGTGGAAATGGAGGCTCAGAAGCTTTATGTGACTTACCCAGAGATTCCATGATTTACCCTTGAGCTAGTCAGAGGCAAACCAGAACACCGACCCAGGTCTCCAGCTCTCCTGAGTTTTTTCTATGGTTCCTTGTGACATAGGCAGTGGAACAGTGGGACAGGTAACCGAGGTGAATTATGGATGCTCCTTCCCCAGACACATTTCAAAACAGTCAGCCACCCCGTGGAATATGCAAGAAGCTATCTGGAAGTGCAGATCTGGAGGCTTCTGAGTTTACGAGAGGCAACAGAGACTCCATTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTNN | pathogenic | 176,351 |
Is the chromosome 11, position 57614427 variant in SERPING1 (serpin family G member 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_angioedema_type_1'] | GAGAGGCAACAGAGACTCCATTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCCGCACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAG | GAGAGGCAACAGAGACTCCATTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCCGCACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGNN | pathogenic | 176,360 |
Clinical classification of chromosome 11, position 59152449, gene FAM111A (FAM111 trypsin like peptidase A): benign or pathogenic? Disease(s) if pathogenic? | benign | ACACTTAATCTTTACAATATTCCTAGCATTGTTATTCCCAGTAGTAGTAAGGGGCATTGCTGGCATACGGACCCATATCTGCTGGTACCCATGCCATGATGAATATGACTTGGGAAAAATGTGTTTTTTAGACATAGGAAACAGACACTCTAATTTTTCACTGAGTTTCTACTATTTGATTAAGCCTCTTTATTTAATTCCTCTCCCCACCTCCACCCCCGTTTCTTAAGATAATGCGCTACAAAAATGGCAATCATAAATATAAAGTTTACAAAAAAGAATGTATACACTAGTCCAGTGGAAAATATAATTGGACTGGGAATTGCAATTTTGATACTCACTTTATTTATTGGTTATTATGTGACCCTAGAAAAGACGTCTACAAGAAAAACTTTCTGTGCCTTAGTTTCTCCATCAAAAGGATAGATAAGTCATGTTTGTTCCTCCTTATTTTATAAACTTTGGGGATTAGTTGATGTAATAGAGAAAATAGAGTTCTTTTCATGATATATGCTGGGCAAATCAAAGTATTTATTGTTACAAATAACTACATTATAACCAAATGATTAGTTAAATAATGATTTTGTTTAATATGTAATGCTTATAATAAATTGCGGTAGCTTATCGCTGAATTCAGTATTTCAAGAACAATTTTTTTTTGCTGTAATTCATTATTGTCCTCAGGAAATATAAAAATTATATAGCTGAAGATAATAAACAAGTCCTGAAATAAAACTATTTCAAATACTAGTGGACTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCTATCTCCGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCATTTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCATGTGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACGGGATTTCACCATGTTGATCATGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGAATTGCAGGTGGGAGCCACCATGCCCGGCCACTAGTGAACTTTTAAGAATCTCTGTTTTTGAGGCACCTGGGAAAAAATTTTTTCTTCCCTCATATTTTTCAGAAGAATGCACTAGTGTAGTGGTACCAAGAGTTTATCTGACAGAGGTTATAGGAAGCTCCGCTTTCATTTTGGATCCCATGTCAAACACTGATTTAATATTATTCACTGGCCCTTTTAGATTGGTTCTCAGTTTCTCATAGGAATTTTGTGAATTGCATACCTGAAAAGAGAAACAAAAGACTCGGGTTGCATTCAGAGTTTTAAAGTATCTAACATTTATTTTTAGGTCTCTAAAGAGCAACAGAATAATTGCAGTACTTCTCTAATGAGGATGGAGTCTAGAGGAGACCCAAGAGCCACAACTAATACCCAGGCTCAAAGATTCCATTCACCTAAGAAAAATCCAGAAGACCAGACCATGCCCCAAAATAGGACAATATATGTTACCTTGAAGGTAAACCACAGGAGAAACCAAGATATGAAACTTAAGCTCACACATAGTGAGAATAGTAGCTTATATATGGCTCTCAACACTCTCCAGGCTGTCAGAAAAGAGATAGAAACTCACCAAGGCCAAGAAATGCTTGTGCGTGGCACAGAAGGAATCAAAGAGTACATAAACCTTGGAATGCCCCTCAGTTGTTTCCCTGAAGGTGGCCAGGTGGTCATTACATTTTCCCAAAGTAAAAGTAAGCAGAAGGAAGATAACCACATATTTGGCAGGCAGGACAAAGCATCGACTGAATGTGTCAAATTTTACATTCATGCAATTGGAATTGGGAAGTGTAAAAGAAGGATTGTTAAATGTGGGAAGCTTCACAAAAAGGGGCGCAAACTCTGTGTTTATGCTTTCAAAGGAGAAACCATCAAGGATGCACTGTGCAAGGATGGCAGATTTCTTTCCTTTCTGGAGAATGATGATTGGAAACTCATTGAAAACAATGACACCATTTTAGAAAGCACCCAGCCAGTTGATGAATTAGAAGGCAGATACTTTCAGGTTGAGGTTGAGAAAAGAATGGTCCCCAGTGCAGCAGCTTCTCAGAATCCTGAGTCAGAGAAAAGAAACACCTGTGTGTTGAGAGAACAAATCGTGGCTCAGTACCCCAGTTTGAAAAGAGAAAGTGAAAAAATCATTGAAAACTTCAAGAAAAAAATGAAAGTAAAAAATGGGGAAACATTATTTGAATTGCATAGAACAACGTTTGGGAAAGTAACAAAAAATTCTTCTTCGATTAAAGTAGTGAAACTTCTTGTACGTCTCAGTGACTCAGTTGGGTACTTATTCTGGGACAGTGCAACTACGGGTTACGCCACCTGCTTTGTTTTTAAAGGATTGTTCATTTTAACTTGTCGGCATGTAATAGATAGCATTGTGGGAGACGGAATAGAGCCAAGTAAGTGGGCAACCATAATTGGTCAATGTGTAAGGGTGACATTTGGTTATGAAGAGCTAAAAGACAAGGAAACAAACTACTTTTTTGTTGAACCTTGGTTTGAGATACATAATGAAGAGCTTGACTATGCTGTCCTGAAACTGAAGGAAAATGGACAACAAGTACCTATGGAACTATATAATGGAATTACTCCTGTGCCACTTAGTGGGTTGATACATATTATTGGCCATCCATATGGAGAAAAAAAGCAGATTGATGCTTGTGCTGTGATCCCTCAGGGTCAGCGAGCAAAGAAATGTCAGGAACGTGTTCAGTCTAAAAAAGCAGAAAGTCCAGAGTATGTCCATATGTATACTCAAAGAAGTTTCCAGAAAATAGTTCACAACCCTGATGTGATTACCTATGACACTGAATTTTTCTTTGGGGCTTCCGGCTCCCCTGTGTTTGATTCAAAAGGTTCATTGGTGGCCATGCATGCTGCTGGCTTTGCTTATACTTACCAAAATGAGACTCGTAGTATCATTGAGTTTGGCTCTACCATGGAATCCATCCTCCTTGATATTAAGCAAAGACATAAACCATGGTATGAAGAAGTATTTGTAAATCAGCAGGATGTAGAAATGATGAGTGATGAGGACTTGTGAGAATTCAGTCTACTGGATTTAAGGGAATGGCTTATGGAGTTGTTATTTCATAGGCATTGAAAATGGTTTTCTAAACTCCAAAATGGTCATCTTATCAATAATAATAATATTGACCATTTCCTATCTGCCAGGCATTTTTCTAAGCACATGAAGAAATTAGTCCTAACAACACTATGAGATGGACTATAACTTGCCCAAATTTTTTTTTTTTTTTTGAGACTGAGTCTCACTCTGTCGCCTGGGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCGATTCTTATGCCTCAGTCTCCTGAGCAGCTGGGATTACAGGCAAACGCCACCACACCCAGCTAAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCGGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAAGTTTGAGCCACTGCACCTGGCTAACTTGCCCTATTTTAAAGTCAAGCAATGGGAAGAATAACAAGATTATATAGTAATCAGTTTCATGACACTAAAAGTCATATAGTCATAGGGTTTTTTCATCTTTCATATCTTTGCCTAAATTCATTTGCTACAGTGCAGGAACCAAAACTTGTTCATCTCATGATTCCCTACATCTGACATAAGGAAAGTAAGTGCTCAGAAAAATGTGCAGGTCAATAAGTTGCAAAAGTTGGGGCTGCAATTAATGCTAACATAAGAGCTAAATGCTTGATTAGAAATGATCTCAAAACCTTTTAGAATTTCCAAAATCTTCATATTACTGAAACTGTCGGAATATATGGGTCTTGAAATTCAGAAGATGATAGTCACTCTTCCCATATTTATAGGCTATTAAGGCAAGGGATATCTTAAACATCATATTACTTTATTTAGATTTCTACTACTCCAATTATTAATGTTATGTATTTCTCATTGTTTTACTT | ACACTTAATCTTTACAATATTCCTAGCATTGTTATTCCCAGTAGTAGTAAGGGGCATTGCTGGCATACGGACCCATATCTGCTGGTACCCATGCCATGATGAATATGACTTGGGAAAAATGTGTTTTTTAGACATAGGAAACAGACACTCTAATTTTTCACTGAGTTTCTACTATTTGATTAAGCCTCTTTATTTAATTCCTCTCCCCACCTCCACCCCCGTTTCTTAAGATAATGCGCTACAAAAATGGCAATCATAAATATAAAGTTTACAAAAAAGAATGTATACACTAGTCCAGTGGAAAATATAATTGGACTGGGAATTGCAATTTTGATACTCACTTTATTTATTGGTTATTATGTGACCCTAGAAAAGACGTCTACAAGAAAAACTTTCTGTGCCTTAGTTTCTCCATCAAAAGGATAGATAAGTCATGTTTGTTCCTCCTTATTTTATAAACTTTGGGGATTAGTTGATGTAATAGAGAAAATAGAGTTCTTTTCATGATATATGCTGGGCAAATCAAAGTATTTATTGTTACAAATAACTACATTATAACCAAATGATTAGTTAAATAATGATTTTGTTTAATATGTAATGCTTATAATAAATTGCGGTAGCTTATCGCTGAATTCAGTATTTCAAGAACAATTTTTTTTTGCTGTAATTCATTATTGTCCTCAGGAAATATAAAAATTATATAGCTGAAGATAATAAACAAGTCCTGAAATAAAACTATTTCAAATACTAGTGGACTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCTATCTCCGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCATTTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCATGTGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACGGGATTTCACCATGTTGATCATGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGAATTGCAGGTGGGAGCCACCATGCCCGGCCACTAGTGAACTTTTAAGAATCTCTGTTTTTGAGGCACCTGGGAAAAAATTTTTTCTTCCCTCATATTTTTCAGAAGAATGCACTAGTGTAGTGGTACCAAGAGTTTATCTGACAGAGGTTATAGGAAGCTCCGCTTTCATTTTGGATCCCATGTCAAACACTGATTTAATATTATTCACTGGCCCTTTTAGATTGGTTCTCAGTTTCTCATAGGAATTTTGTGAATTGCATACCTGAAAAGAGAAACAAAAGACTCGGGTTGCATTCAGAGTTTTAAAGTATCTAACATTTATTTTTAGGTCTCTAAAGAGCAACAGAATAATTGCAGTACTTCTCTAATGAGGATGGAGTCTAGAGGAGACCCAAGAGCCACAACTAATACCCAGGCTCAAAGATTCCATTCACCTAAGAAAAATCCAGAAGACCAGACCATGCCCCAAAATAGGACAATATATGTTACCTTGAAGGTAAACCACAGGAGAAACCAAGATATGAAACTTAAGCTCACACATAGTGAGAATAGTAGCTTATATATGGCTCTCAACACTCTCCAGGCTGTCAGAAAAGAGATAGAAACTCACCAAGGCCAAGAAATGCTTGTGCGTGGCACAGAAGGAATCAAAGAGTACATAAACCTTGGAATGCCCCTCAGTTGTTTCCCTGAAGGTGGCCAGGTGGTCATTACATTTTCCCAAAGTAAAAGTAAGCAGAAGGAAGATAACCACATATTTGGCAGGCAGGACAAAGCATCGACTGAATGTGTCAAATTTTACATTCATGCAATTGGAATTGGGAAGTGTAAAAGAAGGATTGTTAAATGTGGGAAGCTTCACAAAAAGGGGCGCAAACTCTGTGTTTATGCTTTCAAAGGAGAAACCATCAAGGATGCACTGTGCAAGGATGGCAGATTTCTTTCCTTTCTGGAGAATGATGATTGGAAACTCATTGAAAACAATGACACCATTTTAGAAAGCACCCAGCCAGTTGATGAATTAGAAGGCAGATACTTGCAGATACTTTCAGGTTGAGGTTGAGAAAAGAATGGTCCCCAGTGCAGCAGCTTCTCAGAATCCTGAGTCAGAGAAAAGAAACACCTGTGTGTTGAGAGAACAAATCGTGGCTCAGTACCCCAGTTTGAAAAGAGAAAGTGAAAAAATCATTGAAAACTTCAAGAAAAAAATGAAAGTAAAAAATGGGGAAACATTATTTGAATTGCATAGAACAACGTTTGGGAAAGTAACAAAAAATTCTTCTTCGATTAAAGTAGTGAAACTTCTTGTACGTCTCAGTGACTCAGTTGGGTACTTATTCTGGGACAGTGCAACTACGGGTTACGCCACCTGCTTTGTTTTTAAAGGATTGTTCATTTTAACTTGTCGGCATGTAATAGATAGCATTGTGGGAGACGGAATAGAGCCAAGTAAGTGGGCAACCATAATTGGTCAATGTGTAAGGGTGACATTTGGTTATGAAGAGCTAAAAGACAAGGAAACAAACTACTTTTTTGTTGAACCTTGGTTTGAGATACATAATGAAGAGCTTGACTATGCTGTCCTGAAACTGAAGGAAAATGGACAACAAGTACCTATGGAACTATATAATGGAATTACTCCTGTGCCACTTAGTGGGTTGATACATATTATTGGCCATCCATATGGAGAAAAAAAGCAGATTGATGCTTGTGCTGTGATCCCTCAGGGTCAGCGAGCAAAGAAATGTCAGGAACGTGTTCAGTCTAAAAAAGCAGAAAGTCCAGAGTATGTCCATATGTATACTCAAAGAAGTTTCCAGAAAATAGTTCACAACCCTGATGTGATTACCTATGACACTGAATTTTTCTTTGGGGCTTCCGGCTCCCCTGTGTTTGATTCAAAAGGTTCATTGGTGGCCATGCATGCTGCTGGCTTTGCTTATACTTACCAAAATGAGACTCGTAGTATCATTGAGTTTGGCTCTACCATGGAATCCATCCTCCTTGATATTAAGCAAAGACATAAACCATGGTATGAAGAAGTATTTGTAAATCAGCAGGATGTAGAAATGATGAGTGATGAGGACTTGTGAGAATTCAGTCTACTGGATTTAAGGGAATGGCTTATGGAGTTGTTATTTCATAGGCATTGAAAATGGTTTTCTAAACTCCAAAATGGTCATCTTATCAATAATAATAATATTGACCATTTCCTATCTGCCAGGCATTTTTCTAAGCACATGAAGAAATTAGTCCTAACAACACTATGAGATGGACTATAACTTGCCCAAATTTTTTTTTTTTTTTTGAGACTGAGTCTCACTCTGTCGCCTGGGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCGATTCTTATGCCTCAGTCTCCTGAGCAGCTGGGATTACAGGCAAACGCCACCACACCCAGCTAAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCGGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAAGTTTGAGCCACTGCACCTGGCTAACTTGCCCTATTTTAAAGTCAAGCAATGGGAAGAATAACAAGATTATATAGTAATCAGTTTCATGACACTAAAAGTCATATAGTCATAGGGTTTTTTCATCTTTCATATCTTTGCCTAAATTCATTTGCTACAGTGCAGGAACCAAAACTTGTTCATCTCATGATTCCCTACATCTGACATAAGGAAAGTAAGTGCTCAGAAAAATGTGCAGGTCAATAAGTTGCAAAAGTTGGGGCTGCAATTAATGCTAACATAAGAGCTAAATGCTTGATTAGAAATGATCTCAAAACCTTTTAGAATTTCCAAAATCTTCATATTACTGAAACTGTCGGAATATATGGGTCTTGAAATTCAGAAGATGATAGTCACTCTTCCCATATTTATAGGCTATTAAGGCAAGGGATATCTTAAACATCATATTACTTTATTTAGATTTCTACTACTCCAATTATTAATGTTATGTATTTCTCAT | benign | 176,407 |
Evaluate if the mutation on chromosome 11 at position 59152687 in FAM111A is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_dominant_Kenny-Caffey_syndrome', 'Osteocraniostenosis'] | CTACAAAAATGGCAATCATAAATATAAAGTTTACAAAAAAGAATGTATACACTAGTCCAGTGGAAAATATAATTGGACTGGGAATTGCAATTTTGATACTCACTTTATTTATTGGTTATTATGTGACCCTAGAAAAGACGTCTACAAGAAAAACTTTCTGTGCCTTAGTTTCTCCATCAAAAGGATAGATAAGTCATGTTTGTTCCTCCTTATTTTATAAACTTTGGGGATTAGTTGATGTAATAGAGAAAATAGAGTTCTTTTCATGATATATGCTGGGCAAATCAAAGTATTTATTGTTACAAATAACTACATTATAACCAAATGATTAGTTAAATAATGATTTTGTTTAATATGTAATGCTTATAATAAATTGCGGTAGCTTATCGCTGAATTCAGTATTTCAAGAACAATTTTTTTTTGCTGTAATTCATTATTGTCCTCAGGAAATATAAAAATTATATAGCTGAAGATAATAAACAAGTCCTGAAATAAAACTATTTCAAATACTAGTGGACTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCTATCTCCGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCATTTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCATGTGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACGGGATTTCACCATGTTGATCATGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGAATTGCAGGTGGGAGCCACCATGCCCGGCCACTAGTGAACTTTTAAGAATCTCTGTTTTTGAGGCACCTGGGAAAAAATTTTTTCTTCCCTCATATTTTTCAGAAGAATGCACTAGTGTAGTGGTACCAAGAGTTTATCTGACAGAGGTTATAGGAAGCTCCGCTTTCATTTTGGATCCCATGTCAAACACTGATTTAATATTATTCACTGGCCCTTTTAGATTGGTTCTCAGTTTCTCATAGGAATTTTGTGAATTGCATACCTGAAAAGAGAAACAAAAGACTCGGGTTGCATTCAGAGTTTTAAAGTATCTAACATTTATTTTTAGGTCTCTAAAGAGCAACAGAATAATTGCAGTACTTCTCTAATGAGGATGGAGTCTAGAGGAGACCCAAGAGCCACAACTAATACCCAGGCTCAAAGATTCCATTCACCTAAGAAAAATCCAGAAGACCAGACCATGCCCCAAAATAGGACAATATATGTTACCTTGAAGGTAAACCACAGGAGAAACCAAGATATGAAACTTAAGCTCACACATAGTGAGAATAGTAGCTTATATATGGCTCTCAACACTCTCCAGGCTGTCAGAAAAGAGATAGAAACTCACCAAGGCCAAGAAATGCTTGTGCGTGGCACAGAAGGAATCAAAGAGTACATAAACCTTGGAATGCCCCTCAGTTGTTTCCCTGAAGGTGGCCAGGTGGTCATTACATTTTCCCAAAGTAAAAGTAAGCAGAAGGAAGATAACCACATATTTGGCAGGCAGGACAAAGCATCGACTGAATGTGTCAAATTTTACATTCATGCAATTGGAATTGGGAAGTGTAAAAGAAGGATTGTTAAATGTGGGAAGCTTCACAAAAAGGGGCGCAAACTCTGTGTTTATGCTTTCAAAGGAGAAACCATCAAGGATGCACTGTGCAAGGATGGCAGATTTCTTTCCTTTCTGGAGAATGATGATTGGAAACTCATTGAAAACAATGACACCATTTTAGAAAGCACCCAGCCAGTTGATGAATTAGAAGGCAGATACTTTCAGGTTGAGGTTGAGAAAAGAATGGTCCCCAGTGCAGCAGCTTCTCAGAATCCTGAGTCAGAGAAAAGAAACACCTGTGTGTTGAGAGAACAAATCGTGGCTCAGTACCCCAGTTTGAAAAGAGAAAGTGAAAAAATCATTGAAAACTTCAAGAAAAAAATGAAAGTAAAAAATGGGGAAACATTATTTGAATTGCATAGAACAACGTTTGGGAAAGTAACAAAAAATTCTTCTTCGATTAAAGTAGTGAAACTTCTTGTACGTCTCAGTGACTCAGTTGGGTACTTATTCTGGGACAGTGCAACTACGGGTTACGCCACCTGCTTTGTTTTTAAAGGATTGTTCATTTTAACTTGTCGGCATGTAATAGATAGCATTGTGGGAGACGGAATAGAGCCAAGTAAGTGGGCAACCATAATTGGTCAATGTGTAAGGGTGACATTTGGTTATGAAGAGCTAAAAGACAAGGAAACAAACTACTTTTTTGTTGAACCTTGGTTTGAGATACATAATGAAGAGCTTGACTATGCTGTCCTGAAACTGAAGGAAAATGGACAACAAGTACCTATGGAACTATATAATGGAATTACTCCTGTGCCACTTAGTGGGTTGATACATATTATTGGCCATCCATATGGAGAAAAAAAGCAGATTGATGCTTGTGCTGTGATCCCTCAGGGTCAGCGAGCAAAGAAATGTCAGGAACGTGTTCAGTCTAAAAAAGCAGAAAGTCCAGAGTATGTCCATATGTATACTCAAAGAAGTTTCCAGAAAATAGTTCACAACCCTGATGTGATTACCTATGACACTGAATTTTTCTTTGGGGCTTCCGGCTCCCCTGTGTTTGATTCAAAAGGTTCATTGGTGGCCATGCATGCTGCTGGCTTTGCTTATACTTACCAAAATGAGACTCGTAGTATCATTGAGTTTGGCTCTACCATGGAATCCATCCTCCTTGATATTAAGCAAAGACATAAACCATGGTATGAAGAAGTATTTGTAAATCAGCAGGATGTAGAAATGATGAGTGATGAGGACTTGTGAGAATTCAGTCTACTGGATTTAAGGGAATGGCTTATGGAGTTGTTATTTCATAGGCATTGAAAATGGTTTTCTAAACTCCAAAATGGTCATCTTATCAATAATAATAATATTGACCATTTCCTATCTGCCAGGCATTTTTCTAAGCACATGAAGAAATTAGTCCTAACAACACTATGAGATGGACTATAACTTGCCCAAATTTTTTTTTTTTTTTTGAGACTGAGTCTCACTCTGTCGCCTGGGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCGATTCTTATGCCTCAGTCTCCTGAGCAGCTGGGATTACAGGCAAACGCCACCACACCCAGCTAAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCGGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAAGTTTGAGCCACTGCACCTGGCTAACTTGCCCTATTTTAAAGTCAAGCAATGGGAAGAATAACAAGATTATATAGTAATCAGTTTCATGACACTAAAAGTCATATAGTCATAGGGTTTTTTCATCTTTCATATCTTTGCCTAAATTCATTTGCTACAGTGCAGGAACCAAAACTTGTTCATCTCATGATTCCCTACATCTGACATAAGGAAAGTAAGTGCTCAGAAAAATGTGCAGGTCAATAAGTTGCAAAAGTTGGGGCTGCAATTAATGCTAACATAAGAGCTAAATGCTTGATTAGAAATGATCTCAAAACCTTTTAGAATTTCCAAAATCTTCATATTACTGAAACTGTCGGAATATATGGGTCTTGAAATTCAGAAGATGATAGTCACTCTTCCCATATTTATAGGCTATTAAGGCAAGGGATATCTTAAACATCATATTACTTTATTTAGATTTCTACTACTCCAATTATTAATGTTATGTATTTCTCATTGTTTTACTTCTTCATGGTATTATGAAGACTATATAGATGATTCAACCAAGCCTGCAAATCTCCCTCTTGTGGAATTCCACTGGACCCAATCTGTTTTCCATTTCCATTGCAATACTACTAAAGCCATACAATATCAAGCACCCTCCCTCTAGGTCCAGGGACTATCACAGAAGAAGCAGGCATGTAAGATTTTAAGGACTGGTTTCGAGGGGTCGAGTGTAGGAAAACAGCCTGTTGCATTGTAAGA | CTACAAAAATGGCAATCATAAATATAAAGTTTACAAAAAAGAATGTATACACTAGTCCAGTGGAAAATATAATTGGACTGGGAATTGCAATTTTGATACTCACTTTATTTATTGGTTATTATGTGACCCTAGAAAAGACGTCTACAAGAAAAACTTTCTGTGCCTTAGTTTCTCCATCAAAAGGATAGATAAGTCATGTTTGTTCCTCCTTATTTTATAAACTTTGGGGATTAGTTGATGTAATAGAGAAAATAGAGTTCTTTTCATGATATATGCTGGGCAAATCAAAGTATTTATTGTTACAAATAACTACATTATAACCAAATGATTAGTTAAATAATGATTTTGTTTAATATGTAATGCTTATAATAAATTGCGGTAGCTTATCGCTGAATTCAGTATTTCAAGAACAATTTTTTTTTGCTGTAATTCATTATTGTCCTCAGGAAATATAAAAATTATATAGCTGAAGATAATAAACAAGTCCTGAAATAAAACTATTTCAAATACTAGTGGACTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCTATCTCCGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCATTTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCATGTGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACGGGATTTCACCATGTTGATCATGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGAATTGCAGGTGGGAGCCACCATGCCCGGCCACTAGTGAACTTTTAAGAATCTCTGTTTTTGAGGCACCTGGGAAAAAATTTTTTCTTCCCTCATATTTTTCAGAAGAATGCACTAGTGTAGTGGTACCAAGAGTTTATCTGACAGAGGTTATAGGAAGCTCCGCTTTCATTTTGGATCCCATGTCAAACACTGATTTAATATTATTCACTGGCCCTTTTAGATTGGTTCTCAGTTTCTCATAGGAATTTTGTGAATTGCATACCTGAAAAGAGAAACAAAAGACTCGGGTTGCATTCAGAGTTTTAAAGTATCTAACATTTATTTTTAGGTCTCTAAAGAGCAACAGAATAATTGCAGTACTTCTCTAATGAGGATGGAGTCTAGAGGAGACCCAAGAGCCACAACTAATACCCAGGCTCAAAGATTCCATTCACCTAAGAAAAATCCAGAAGACCAGACCATGCCCCAAAATAGGACAATATATGTTACCTTGAAGGTAAACCACAGGAGAAACCAAGATATGAAACTTAAGCTCACACATAGTGAGAATAGTAGCTTATATATGGCTCTCAACACTCTCCAGGCTGTCAGAAAAGAGATAGAAACTCACCAAGGCCAAGAAATGCTTGTGCGTGGCACAGAAGGAATCAAAGAGTACATAAACCTTGGAATGCCCCTCAGTTGTTTCCCTGAAGGTGGCCAGGTGGTCATTACATTTTCCCAAAGTAAAAGTAAGCAGAAGGAAGATAACCACATATTTGGCAGGCAGGACAAAGCATCGACTGAATGTGTCAAATTTTACATTCATGCAATTGGAATTGGGAAGTGTAAAAGAAGGATTGTTAAATGTGGGAAGCTTCACAAAAAGGGGCGCAAACTCTGTGTTTATGCTTTCAAAGGAGAAACCATCAAGGATGCACTGTGCAAGGATGGCAGATTTCTTTCCTTTCTGGAGAATGATGATTGGAAACTCATTGAAAACAATGACACCATTTTAGAAAGCACCCAGCCAGTTGATGAATTAGAAGGCAGATACTTTCAGGTTGAGGTTGAGAAAAGAATGGTCCCCAGTGCAGCAGCTTCTCAGAATCCTGAGTCAGAGAAAAGAAACACCTGTGTGTTGAGAGAACAAATCGTGGCTCAGTACCCCAGTTTGAAAAGAGAAAGTGAAAAAATCATTGAAAACTTCAAGAAAAAAATGAAAGTAAAAAATGGGGAAACATTATTTGAATTGCATAGAACAACGTTTGGGAAAGTAACAAAAAATTCTTCGATTAAAGTAGTGAAACTTCTTGTACGTCTCAGTGACTCAGTTGGGTACTTATTCTGGGACAGTGCAACTACGGGTTACGCCACCTGCTTTGTTTTTAAAGGATTGTTCATTTTAACTTGTCGGCATGTAATAGATAGCATTGTGGGAGACGGAATAGAGCCAAGTAAGTGGGCAACCATAATTGGTCAATGTGTAAGGGTGACATTTGGTTATGAAGAGCTAAAAGACAAGGAAACAAACTACTTTTTTGTTGAACCTTGGTTTGAGATACATAATGAAGAGCTTGACTATGCTGTCCTGAAACTGAAGGAAAATGGACAACAAGTACCTATGGAACTATATAATGGAATTACTCCTGTGCCACTTAGTGGGTTGATACATATTATTGGCCATCCATATGGAGAAAAAAAGCAGATTGATGCTTGTGCTGTGATCCCTCAGGGTCAGCGAGCAAAGAAATGTCAGGAACGTGTTCAGTCTAAAAAAGCAGAAAGTCCAGAGTATGTCCATATGTATACTCAAAGAAGTTTCCAGAAAATAGTTCACAACCCTGATGTGATTACCTATGACACTGAATTTTTCTTTGGGGCTTCCGGCTCCCCTGTGTTTGATTCAAAAGGTTCATTGGTGGCCATGCATGCTGCTGGCTTTGCTTATACTTACCAAAATGAGACTCGTAGTATCATTGAGTTTGGCTCTACCATGGAATCCATCCTCCTTGATATTAAGCAAAGACATAAACCATGGTATGAAGAAGTATTTGTAAATCAGCAGGATGTAGAAATGATGAGTGATGAGGACTTGTGAGAATTCAGTCTACTGGATTTAAGGGAATGGCTTATGGAGTTGTTATTTCATAGGCATTGAAAATGGTTTTCTAAACTCCAAAATGGTCATCTTATCAATAATAATAATATTGACCATTTCCTATCTGCCAGGCATTTTTCTAAGCACATGAAGAAATTAGTCCTAACAACACTATGAGATGGACTATAACTTGCCCAAATTTTTTTTTTTTTTTTGAGACTGAGTCTCACTCTGTCGCCTGGGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCGATTCTTATGCCTCAGTCTCCTGAGCAGCTGGGATTACAGGCAAACGCCACCACACCCAGCTAAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCGGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAAGTTTGAGCCACTGCACCTGGCTAACTTGCCCTATTTTAAAGTCAAGCAATGGGAAGAATAACAAGATTATATAGTAATCAGTTTCATGACACTAAAAGTCATATAGTCATAGGGTTTTTTCATCTTTCATATCTTTGCCTAAATTCATTTGCTACAGTGCAGGAACCAAAACTTGTTCATCTCATGATTCCCTACATCTGACATAAGGAAAGTAAGTGCTCAGAAAAATGTGCAGGTCAATAAGTTGCAAAAGTTGGGGCTGCAATTAATGCTAACATAAGAGCTAAATGCTTGATTAGAAATGATCTCAAAACCTTTTAGAATTTCCAAAATCTTCATATTACTGAAACTGTCGGAATATATGGGTCTTGAAATTCAGAAGATGATAGTCACTCTTCCCATATTTATAGGCTATTAAGGCAAGGGATATCTTAAACATCATATTACTTTATTTAGATTTCTACTACTCCAATTATTAATGTTATGTATTTCTCATTGTTTTACTTCTTCATGGTATTATGAAGACTATATAGATGATTCAACCAAGCCTGCAAATCTCCCTCTTGTGGAATTCCACTGGACCCAATCTGTTTTCCATTTCCATTGCAATACTACTAAAGCCATACAATATCAAGCACCCTCCCTCTAGGTCCAGGGACTATCACAGAAGAAGCAGGCATGTAAGATTTTAAGGACTGGTTTCGAGGGGTCGAGTGTAGGAAAACAGCCTGTTGCATTGTAAGANNN | pathogenic | 176,409 |
The genetic variant at chromosome 11, position 61367927, affecting gene TMEM138 (transmembrane protein 138): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Joubert_syndrome_16'] | CATGTCATTCAGGTCCCAAAACCCATGTTATCTCTGTGAGGGTTTAAGATGTCAGATGCCTATCTCACAACAAAGGACAGGCCTCGTGGTGTCCCTCAGGACATAGTACCTGCTCTTGGGTCCTCACACAGGCCTTCATTGGTTGTACTTTTTTTTATGTCTACAGCATCCAGGATATTGCAGTCCTCTTCAACATCATCATCATTTTCCTCATGTTCTTCAACACCTTCGTCTTCCAGGCTGGCCTGGTCAACCTCCTATTCCATAAGTTCAAAGGGACCATCATCCTGACAGCTGTGTACTTTGCCCTCAGCATCTCCCTTCATGTCTGGGTCATGGTAAGAGTGGCAGTCTGAATTCTTTTTTTAATTTTTATTTTAAATAGAGGTGGGGTCTTACTTTGTTACCAAGGCTGGTCTCAAACTCCTGAGCTCAAGCAATTCTCCTGCTTCTGCCTCCCAAGCTCAAGCAATTCTCCTGCTTCTGCCTCCCAAAGTGCTGGAATTACAGGCATGAGTCACTGTGCCCGGCCTGAACTCTGAATTCCTGAATCGCTAAAGGGCTAGGAATAACTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCTGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCAATTCTCCTCCCTCAGTCTCCTGAGTACCTGGGATTACAGGCACGCACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCGGGATGGTCTCAATCTCTTGACCTCGTGATCCTCCTGCCTCGGCCTCTGAAGTGCTAGGATTACAGGCGTGAGCTACTGCGCCCGGCCACTGGGATATCTTTTCTCTGGGAACCCAGCTTCATTCTTTGACATCTCACACAATCCTTCGTAGAGAACAGGTGAAATGAAAGTGGTTTGGGTTGGAGCCCTGGGCATGTGAGAGTTTCATAAGGTACTCTTGACCAACCTTATGTGTTGAAAAACAGCCTTGTCCAAGAGTCAGGGGACTCTTCCAGAACATTCAATTCACCTTTGCCCCAAACAGGCCTACCAGGGCTAAAACAGGTAGTTGAATGTGTCTCATCATTAGCTATTTGGGCAGGTGGATGTTGATACAGGTTATTCTTAGGCATCAGTGCCCCATGGCTAATGCTGTAGGCAGTGGATGTTTTTGGAAGTAGCCAAGCAGGATTGCTGCTTGCCCTTGAGTGCTCCATGCCGTCTGCCAAGCTCCCATCACTTTAACTAGGAGAACCGGCCTCCAGGATCCCTCCCTTTGGTTCTAACATAGGCCTCAGATCAGATCCAGTGTCTGTGGTTTCAGATTTCTTCTGCTTCACAAATTCTTCCAGCTCTTTGAGTATCTTGTATATTTCTCATGTACTCAATTCAATTGAACTCTAAAACCTCAGGGTTCTCTAGTTGTCACTTCATTATTAAAGCCACTTTCACACCTGAACCCCCTGTTAGGTTGTGCTTGTGATTCCACAGAAAGAAGTAGAGGTCCCAGGAAAGAAGCAAAGCAACACCAGAGTCTCCGGGTGCTTCCTGAAGAGGATTCTGTGCCCTGGTTCCTGGAGCCAAAATAGGTCCTGGCTTTGTACTATAAAAGCCGTTAATCTCATTAAACCCTGAGTACACCAAAGTCTTTATCTGACAGGAGCTGAGCCAGCGATTTTTCAAGGCAAGACAGTGACCAGCTGAACTCCTGAGATAATGAATATATCATTTCTCCTTGGCAAAGGTTATGGAATTAAAGAGAATAAATAACTTAGTTCATACTTCCTCCCTCAAAGTTAAAAGATATTCCCTTTGCAGCGAAAAATGGAGCTTTGAGGCTCCTTCGAGAAACGCTCCTTGGGGTTGTAGAAAGGAGGAAGAGGTTAGCATGATTTTAAAGCAACTGGCATCTCTGCAGCTAACCAAGTTGGAGACATTAGGGCTTCTTGTGGCCATTAACTTTTGTGTATCTCACATCTCCTTCAGAACTTACGCTGGAAAAACTCCAACAGCTTCATATGGACAGATGGACTTCAAATGCTGTTTGTATTCCAGAGACTAGGTAAGGACCAGAGCAAGGTCAGGCCTCTCTCAGGTCCCACATGTGTCTCTTTCAGTGAGGGCCTTGATGCTGGCTTCCCAGACCTGTCCCAGCTGGCTTGGGATGGTTGTGACAGCCACACCAGGAACAGGAGGGATTACTGCCCCTGCCCTTGCTAGAAGACTATGGGAAATGAGGAGGCAGGGCTGCCCAGCCTCATTAGGTTCTGTTCTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCTGTGGCGCTATCTCAGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCTGACCTCATGATCCGCCTGCCTCTGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCAGGTTCTGTTCTTAACCTGAAATGATACTCAGGAGCACCCCTGAGGCTTCTCTTCTGCTTCCTCCCCACAGCAGCAGTGTTGTACTGCTACTTCTATAAACGGACAGCCGTAAGACTAGGCGATCCTCACTTCTACCAGGACTCTTTGTGGCTGCGCAAGGAGTTCATGCAAGTTCGAAGGTGACCTCTTGTCACACTGATGGATACTTTTCCTTCCTGATAGAAGCCACATTTGCTGCTTTGCAGGGAGAGTTGGCCCTATGCATGGGCAAACAGCTGGACTTTCCAAGGAAGGTTCAGACTAGCTGTGTTCAGCATTCAAGAAGGAAGATCCTCCCTCTTGCACAATTAGAGTGTCCCCATCGGTCTCCAGTGCGGCATCCCTTCCTTGCCTTCTACCTCTGTTCCACCCCCTTTCCTTCCTTTCCTCTCTGTACCATTCATTCTCCCTGACCGGCCTTTCTTGCCGAGGGTTCTGTGGCTCTTACCCTTGTGAAGCTTTTCCTTTAGCCTGGGACAGAAGGACCTCCCAGCCCCCAAAGGATCTCCCAGTGACCAAAGGATGCGAAGAGTGATAGTTACGTGCTCCTGACTGATCACACCGCAGACATTTAGATTTTTATACCCAAGGCACTTTAAAAAAATGTTTTATAAATAGAGAATAAATTGAATTCTTGTTCCATAAATGGGGGAGTCTGTCTGTCTAGCTAGATCTCTTCATGTTAAGAGGCGTGCCAAGGTCCAGCTTAACATCTACTTGACCCAGAGGGAAGATGGAGCCACAGATGAAATACAGATCTTTGTTGAGATCCATTATGAGTACAAAGTATTTTAGCAGAAATTCAAGATGGAATCTGATGCTGCATCCCCCACTCCTGGAGCTCCAGATGTGTGTGCTCTGTTCAGACTCTCTTTCCTTATCAGAAGCCTTAACTGCCCTCAGAAGAATAAAAATATTCCCTTAGCCAGCTTTGGCAAAAGAAATTTTTAAAATTCTTATGTCCGTAGTATCAGTTTTCTATTGCCAGAATATTGTGTAACTCCACCACCAAAGTTCAGGGGCATACAGCAATCAACAGCTGCCTGGCTCTTTGTCTTGGGGTTCAGCTGATCAAGGCTGTGTGTGGGTGGTTTCATCTGGGCTCACTCTTGTGTCTGTCAGCTGCAGGTCAGCTAGGCAGCTGCGATGGCCTTGGGATCCACTGGCAGTTGGCTAGCCTTCATTGACCTCAGCTGGAGTGACTGTGGTTACTCAGCTCTAGTTTGCAGATTTACTTCCCACAGACTAGCCTGGATCTGCTCACACGCCAGTGGCAGAGCGGGAAAGTCCCAGTATGCAACCCCATTTCAAGCCTGTGCTTGTCTTGTGTCTCCTAGACTCCTGTTGATCAAGGCAAGTCACGCAACTAAGCCCAGAAACAAAGTGGCAAACGGTTACCAACCACAAGT | CATGTCATTCAGGTCCCAAAACCCATGTTATCTCTGTGAGGGTTTAAGATGTCAGATGCCTATCTCACAACAAAGGACAGGCCTCGTGGTGTCCCTCAGGACATAGTACCTGCTCTTGGGTCCTCACACAGGCCTTCATTGGTTGTACTTTTTTTTATGTCTACAGCATCCAGGATATTGCAGTCCTCTTCAACATCATCATCATTTTCCTCATGTTCTTCAACACCTTCGTCTTCCAGGCTGGCCTGGTCAACCTCCTATTCCATAAGTTCAAAGGGACCATCATCCTGACAGCTGTGTACTTTGCCCTCAGCATCTCCCTTCATGTCTGGGTCATGGTAAGAGTGGCAGTCTGAATTCTTTTTTTAATTTTTATTTTAAATAGAGGTGGGGTCTTACTTTGTTACCAAGGCTGGTCTCAAACTCCTGAGCTCAAGCAATTCTCCTGCTTCTGCCTCCCAAGCTCAAGCAATTCTCCTGCTTCTGCCTCCCAAAGTGCTGGAATTACAGGCATGAGTCACTGTGCCCGGCCTGAACTCTGAATTCCTGAATCGCTAAAGGGCTAGGAATAACTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCTGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCAATTCTCCTCCCTCAGTCTCCTGAGTACCTGGGATTACAGGCACGCACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCGGGATGGTCTCAATCTCTTGACCTCGTGATCCTCCTGCCTCGGCCTCTGAAGTGCTAGGATTACAGGCGTGAGCTACTGCGCCCGGCCACTGGGATATCTTTTCTCTGGGAACCCAGCTTCATTCTTTGACATCTCACACAATCCTTCGTAGAGAACAGGTGAAATGAAAGTGGTTTGGGTTGGAGCCCTGGGCATGTGAGAGTTTCATAAGGTACTCTTGACCAACCTTATGTGTTGAAAAACAGCCTTGTCCAAGAGTCAGGGGACTCTTCCAGAACATTCAATTCACCTTTGCCCCAAACAGGCCTACCAGGGCTAAAACAGGTAGTTGAATGTGTCTCATCATTAGCTATTTGGGCAGGTGGATGTTGATACAGGTTATTCTTAGGCATCAGTGCCCCATGGCTAATGCTGTAGGCAGTGGATGTTTTTGGAAGTAGCCAAGCAGGATTGCTGCTTGCCCTTGAGTGCTCCATGCCGTCTGCCAAGCTCCCATCACTTTAACTAGGAGAACCGGCCTCCAGGATCCCTCCCTTTGGTTCTAACATAGGCCTCAGATCAGATCCAGTGTCTGTGGTTTCAGATTTCTTCTGCTTCACAAATTCTTCCAGCTCTTTGAGTATCTTGTATATTTCTCATGTACTCAATTCAATTGAACTCTAAAACCTCAGGGTTCTCTAGTTGTCACTTCATTATTAAAGCCACTTTCACACCTGAACCCCCTGTTAGGTTGTGCTTGTGATTCCACAGAAAGAAGTAGAGGTCCCAGGAAAGAAGCAAAGCAACACCAGAGTCTCCGGGTGCTTCCTGAAGAGGATTCTGTGCCCTGGTTCCTGGAGCCAAAATAGGTCCTGGCTTTGTACTATAAAAGCCGTTAATCTCATTAAACCCTGAGTACACCAAAGTCTTTATCTGACAGGAGCTGAGCCAGCGATTTTTCAAGGCAAGACAGTGACCAGCTGAACTCCTGAGATAATGAATATATCATTTCTCCTTGGCAAAGGTTATGGAATTAAAGAGAATAAATAACTTAGTTCATACTTCCTCCCTCAAAGTTAAAAGATATTCCCTTTGCAGCGAAAAATGGAGCTTTGAGGCTCCTTCGAGAAACGCTCCTTGGGGTTGTAGAAAGGAGGAAGAGGTTAGCATGATTTTAAAGCAACTGGCATCTCTGCAGCTAACCAAGTTGGAGACATTAGGGCTTCTTGTGGCCATTAACTTTTGTGTATCTCACATCTCCTTCAGAACTTACACGCTGGAAAAACTCCAACAGCTTCATATGGACAGATGGACTTCAAATGCTGTTTGTATTCCAGAGACTAGGTAAGGACCAGAGCAAGGTCAGGCCTCTCTCAGGTCCCACATGTGTCTCTTTCAGTGAGGGCCTTGATGCTGGCTTCCCAGACCTGTCCCAGCTGGCTTGGGATGGTTGTGACAGCCACACCAGGAACAGGAGGGATTACTGCCCCTGCCCTTGCTAGAAGACTATGGGAAATGAGGAGGCAGGGCTGCCCAGCCTCATTAGGTTCTGTTCTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCTGTGGCGCTATCTCAGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCTGACCTCATGATCCGCCTGCCTCTGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCAGGTTCTGTTCTTAACCTGAAATGATACTCAGGAGCACCCCTGAGGCTTCTCTTCTGCTTCCTCCCCACAGCAGCAGTGTTGTACTGCTACTTCTATAAACGGACAGCCGTAAGACTAGGCGATCCTCACTTCTACCAGGACTCTTTGTGGCTGCGCAAGGAGTTCATGCAAGTTCGAAGGTGACCTCTTGTCACACTGATGGATACTTTTCCTTCCTGATAGAAGCCACATTTGCTGCTTTGCAGGGAGAGTTGGCCCTATGCATGGGCAAACAGCTGGACTTTCCAAGGAAGGTTCAGACTAGCTGTGTTCAGCATTCAAGAAGGAAGATCCTCCCTCTTGCACAATTAGAGTGTCCCCATCGGTCTCCAGTGCGGCATCCCTTCCTTGCCTTCTACCTCTGTTCCACCCCCTTTCCTTCCTTTCCTCTCTGTACCATTCATTCTCCCTGACCGGCCTTTCTTGCCGAGGGTTCTGTGGCTCTTACCCTTGTGAAGCTTTTCCTTTAGCCTGGGACAGAAGGACCTCCCAGCCCCCAAAGGATCTCCCAGTGACCAAAGGATGCGAAGAGTGATAGTTACGTGCTCCTGACTGATCACACCGCAGACATTTAGATTTTTATACCCAAGGCACTTTAAAAAAATGTTTTATAAATAGAGAATAAATTGAATTCTTGTTCCATAAATGGGGGAGTCTGTCTGTCTAGCTAGATCTCTTCATGTTAAGAGGCGTGCCAAGGTCCAGCTTAACATCTACTTGACCCAGAGGGAAGATGGAGCCACAGATGAAATACAGATCTTTGTTGAGATCCATTATGAGTACAAAGTATTTTAGCAGAAATTCAAGATGGAATCTGATGCTGCATCCCCCACTCCTGGAGCTCCAGATGTGTGTGCTCTGTTCAGACTCTCTTTCCTTATCAGAAGCCTTAACTGCCCTCAGAAGAATAAAAATATTCCCTTAGCCAGCTTTGGCAAAAGAAATTTTTAAAATTCTTATGTCCGTAGTATCAGTTTTCTATTGCCAGAATATTGTGTAACTCCACCACCAAAGTTCAGGGGCATACAGCAATCAACAGCTGCCTGGCTCTTTGTCTTGGGGTTCAGCTGATCAAGGCTGTGTGTGGGTGGTTTCATCTGGGCTCACTCTTGTGTCTGTCAGCTGCAGGTCAGCTAGGCAGCTGCGATGGCCTTGGGATCCACTGGCAGTTGGCTAGCCTTCATTGACCTCAGCTGGAGTGACTGTGGTTACTCAGCTCTAGTTTGCAGATTTACTTCCCACAGACTAGCCTGGATCTGCTCACACGCCAGTGGCAGAGCGGGAAAGTCCCAGTATGCAACCCCATTTCAAGCCTGTGCTTGTCTTGTGTCTCCTAGACTCCTGTTGATCAAGGCAAGTCACGCAACTAAGCCCAGAAACAAAGTGGCAAACGGTTACCAACCACAA | pathogenic | 176,508 |
The chromosome 11, position 61367928 genetic variant in gene TMEM138 (transmembrane protein 138): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Joubert_syndrome_16'] | ATGTCATTCAGGTCCCAAAACCCATGTTATCTCTGTGAGGGTTTAAGATGTCAGATGCCTATCTCACAACAAAGGACAGGCCTCGTGGTGTCCCTCAGGACATAGTACCTGCTCTTGGGTCCTCACACAGGCCTTCATTGGTTGTACTTTTTTTTATGTCTACAGCATCCAGGATATTGCAGTCCTCTTCAACATCATCATCATTTTCCTCATGTTCTTCAACACCTTCGTCTTCCAGGCTGGCCTGGTCAACCTCCTATTCCATAAGTTCAAAGGGACCATCATCCTGACAGCTGTGTACTTTGCCCTCAGCATCTCCCTTCATGTCTGGGTCATGGTAAGAGTGGCAGTCTGAATTCTTTTTTTAATTTTTATTTTAAATAGAGGTGGGGTCTTACTTTGTTACCAAGGCTGGTCTCAAACTCCTGAGCTCAAGCAATTCTCCTGCTTCTGCCTCCCAAGCTCAAGCAATTCTCCTGCTTCTGCCTCCCAAAGTGCTGGAATTACAGGCATGAGTCACTGTGCCCGGCCTGAACTCTGAATTCCTGAATCGCTAAAGGGCTAGGAATAACTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCTGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCAATTCTCCTCCCTCAGTCTCCTGAGTACCTGGGATTACAGGCACGCACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCGGGATGGTCTCAATCTCTTGACCTCGTGATCCTCCTGCCTCGGCCTCTGAAGTGCTAGGATTACAGGCGTGAGCTACTGCGCCCGGCCACTGGGATATCTTTTCTCTGGGAACCCAGCTTCATTCTTTGACATCTCACACAATCCTTCGTAGAGAACAGGTGAAATGAAAGTGGTTTGGGTTGGAGCCCTGGGCATGTGAGAGTTTCATAAGGTACTCTTGACCAACCTTATGTGTTGAAAAACAGCCTTGTCCAAGAGTCAGGGGACTCTTCCAGAACATTCAATTCACCTTTGCCCCAAACAGGCCTACCAGGGCTAAAACAGGTAGTTGAATGTGTCTCATCATTAGCTATTTGGGCAGGTGGATGTTGATACAGGTTATTCTTAGGCATCAGTGCCCCATGGCTAATGCTGTAGGCAGTGGATGTTTTTGGAAGTAGCCAAGCAGGATTGCTGCTTGCCCTTGAGTGCTCCATGCCGTCTGCCAAGCTCCCATCACTTTAACTAGGAGAACCGGCCTCCAGGATCCCTCCCTTTGGTTCTAACATAGGCCTCAGATCAGATCCAGTGTCTGTGGTTTCAGATTTCTTCTGCTTCACAAATTCTTCCAGCTCTTTGAGTATCTTGTATATTTCTCATGTACTCAATTCAATTGAACTCTAAAACCTCAGGGTTCTCTAGTTGTCACTTCATTATTAAAGCCACTTTCACACCTGAACCCCCTGTTAGGTTGTGCTTGTGATTCCACAGAAAGAAGTAGAGGTCCCAGGAAAGAAGCAAAGCAACACCAGAGTCTCCGGGTGCTTCCTGAAGAGGATTCTGTGCCCTGGTTCCTGGAGCCAAAATAGGTCCTGGCTTTGTACTATAAAAGCCGTTAATCTCATTAAACCCTGAGTACACCAAAGTCTTTATCTGACAGGAGCTGAGCCAGCGATTTTTCAAGGCAAGACAGTGACCAGCTGAACTCCTGAGATAATGAATATATCATTTCTCCTTGGCAAAGGTTATGGAATTAAAGAGAATAAATAACTTAGTTCATACTTCCTCCCTCAAAGTTAAAAGATATTCCCTTTGCAGCGAAAAATGGAGCTTTGAGGCTCCTTCGAGAAACGCTCCTTGGGGTTGTAGAAAGGAGGAAGAGGTTAGCATGATTTTAAAGCAACTGGCATCTCTGCAGCTAACCAAGTTGGAGACATTAGGGCTTCTTGTGGCCATTAACTTTTGTGTATCTCACATCTCCTTCAGAACTTACGCTGGAAAAACTCCAACAGCTTCATATGGACAGATGGACTTCAAATGCTGTTTGTATTCCAGAGACTAGGTAAGGACCAGAGCAAGGTCAGGCCTCTCTCAGGTCCCACATGTGTCTCTTTCAGTGAGGGCCTTGATGCTGGCTTCCCAGACCTGTCCCAGCTGGCTTGGGATGGTTGTGACAGCCACACCAGGAACAGGAGGGATTACTGCCCCTGCCCTTGCTAGAAGACTATGGGAAATGAGGAGGCAGGGCTGCCCAGCCTCATTAGGTTCTGTTCTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCTGTGGCGCTATCTCAGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCTGACCTCATGATCCGCCTGCCTCTGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCAGGTTCTGTTCTTAACCTGAAATGATACTCAGGAGCACCCCTGAGGCTTCTCTTCTGCTTCCTCCCCACAGCAGCAGTGTTGTACTGCTACTTCTATAAACGGACAGCCGTAAGACTAGGCGATCCTCACTTCTACCAGGACTCTTTGTGGCTGCGCAAGGAGTTCATGCAAGTTCGAAGGTGACCTCTTGTCACACTGATGGATACTTTTCCTTCCTGATAGAAGCCACATTTGCTGCTTTGCAGGGAGAGTTGGCCCTATGCATGGGCAAACAGCTGGACTTTCCAAGGAAGGTTCAGACTAGCTGTGTTCAGCATTCAAGAAGGAAGATCCTCCCTCTTGCACAATTAGAGTGTCCCCATCGGTCTCCAGTGCGGCATCCCTTCCTTGCCTTCTACCTCTGTTCCACCCCCTTTCCTTCCTTTCCTCTCTGTACCATTCATTCTCCCTGACCGGCCTTTCTTGCCGAGGGTTCTGTGGCTCTTACCCTTGTGAAGCTTTTCCTTTAGCCTGGGACAGAAGGACCTCCCAGCCCCCAAAGGATCTCCCAGTGACCAAAGGATGCGAAGAGTGATAGTTACGTGCTCCTGACTGATCACACCGCAGACATTTAGATTTTTATACCCAAGGCACTTTAAAAAAATGTTTTATAAATAGAGAATAAATTGAATTCTTGTTCCATAAATGGGGGAGTCTGTCTGTCTAGCTAGATCTCTTCATGTTAAGAGGCGTGCCAAGGTCCAGCTTAACATCTACTTGACCCAGAGGGAAGATGGAGCCACAGATGAAATACAGATCTTTGTTGAGATCCATTATGAGTACAAAGTATTTTAGCAGAAATTCAAGATGGAATCTGATGCTGCATCCCCCACTCCTGGAGCTCCAGATGTGTGTGCTCTGTTCAGACTCTCTTTCCTTATCAGAAGCCTTAACTGCCCTCAGAAGAATAAAAATATTCCCTTAGCCAGCTTTGGCAAAAGAAATTTTTAAAATTCTTATGTCCGTAGTATCAGTTTTCTATTGCCAGAATATTGTGTAACTCCACCACCAAAGTTCAGGGGCATACAGCAATCAACAGCTGCCTGGCTCTTTGTCTTGGGGTTCAGCTGATCAAGGCTGTGTGTGGGTGGTTTCATCTGGGCTCACTCTTGTGTCTGTCAGCTGCAGGTCAGCTAGGCAGCTGCGATGGCCTTGGGATCCACTGGCAGTTGGCTAGCCTTCATTGACCTCAGCTGGAGTGACTGTGGTTACTCAGCTCTAGTTTGCAGATTTACTTCCCACAGACTAGCCTGGATCTGCTCACACGCCAGTGGCAGAGCGGGAAAGTCCCAGTATGCAACCCCATTTCAAGCCTGTGCTTGTCTTGTGTCTCCTAGACTCCTGTTGATCAAGGCAAGTCACGCAACTAAGCCCAGAAACAAAGTGGCAAACGGTTACCAACCACAAGTT | ATGTCATTCAGGTCCCAAAACCCATGTTATCTCTGTGAGGGTTTAAGATGTCAGATGCCTATCTCACAACAAAGGACAGGCCTCGTGGTGTCCCTCAGGACATAGTACCTGCTCTTGGGTCCTCACACAGGCCTTCATTGGTTGTACTTTTTTTTATGTCTACAGCATCCAGGATATTGCAGTCCTCTTCAACATCATCATCATTTTCCTCATGTTCTTCAACACCTTCGTCTTCCAGGCTGGCCTGGTCAACCTCCTATTCCATAAGTTCAAAGGGACCATCATCCTGACAGCTGTGTACTTTGCCCTCAGCATCTCCCTTCATGTCTGGGTCATGGTAAGAGTGGCAGTCTGAATTCTTTTTTTAATTTTTATTTTAAATAGAGGTGGGGTCTTACTTTGTTACCAAGGCTGGTCTCAAACTCCTGAGCTCAAGCAATTCTCCTGCTTCTGCCTCCCAAGCTCAAGCAATTCTCCTGCTTCTGCCTCCCAAAGTGCTGGAATTACAGGCATGAGTCACTGTGCCCGGCCTGAACTCTGAATTCCTGAATCGCTAAAGGGCTAGGAATAACTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCTGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCAATTCTCCTCCCTCAGTCTCCTGAGTACCTGGGATTACAGGCACGCACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCGGGATGGTCTCAATCTCTTGACCTCGTGATCCTCCTGCCTCGGCCTCTGAAGTGCTAGGATTACAGGCGTGAGCTACTGCGCCCGGCCACTGGGATATCTTTTCTCTGGGAACCCAGCTTCATTCTTTGACATCTCACACAATCCTTCGTAGAGAACAGGTGAAATGAAAGTGGTTTGGGTTGGAGCCCTGGGCATGTGAGAGTTTCATAAGGTACTCTTGACCAACCTTATGTGTTGAAAAACAGCCTTGTCCAAGAGTCAGGGGACTCTTCCAGAACATTCAATTCACCTTTGCCCCAAACAGGCCTACCAGGGCTAAAACAGGTAGTTGAATGTGTCTCATCATTAGCTATTTGGGCAGGTGGATGTTGATACAGGTTATTCTTAGGCATCAGTGCCCCATGGCTAATGCTGTAGGCAGTGGATGTTTTTGGAAGTAGCCAAGCAGGATTGCTGCTTGCCCTTGAGTGCTCCATGCCGTCTGCCAAGCTCCCATCACTTTAACTAGGAGAACCGGCCTCCAGGATCCCTCCCTTTGGTTCTAACATAGGCCTCAGATCAGATCCAGTGTCTGTGGTTTCAGATTTCTTCTGCTTCACAAATTCTTCCAGCTCTTTGAGTATCTTGTATATTTCTCATGTACTCAATTCAATTGAACTCTAAAACCTCAGGGTTCTCTAGTTGTCACTTCATTATTAAAGCCACTTTCACACCTGAACCCCCTGTTAGGTTGTGCTTGTGATTCCACAGAAAGAAGTAGAGGTCCCAGGAAAGAAGCAAAGCAACACCAGAGTCTCCGGGTGCTTCCTGAAGAGGATTCTGTGCCCTGGTTCCTGGAGCCAAAATAGGTCCTGGCTTTGTACTATAAAAGCCGTTAATCTCATTAAACCCTGAGTACACCAAAGTCTTTATCTGACAGGAGCTGAGCCAGCGATTTTTCAAGGCAAGACAGTGACCAGCTGAACTCCTGAGATAATGAATATATCATTTCTCCTTGGCAAAGGTTATGGAATTAAAGAGAATAAATAACTTAGTTCATACTTCCTCCCTCAAAGTTAAAAGATATTCCCTTTGCAGCGAAAAATGGAGCTTTGAGGCTCCTTCGAGAAACGCTCCTTGGGGTTGTAGAAAGGAGGAAGAGGTTAGCATGATTTTAAAGCAACTGGCATCTCTGCAGCTAACCAAGTTGGAGACATTAGGGCTTCTTGTGGCCATTAACTTTTGTGTATCTCACATCTCCTTCAGAACTTAGCTGGAAAAACTCCAACAGCTTCATATGGACAGATGGACTTCAAATGCTGTTTGTATTCCAGAGACTAGGTAAGGACCAGAGCAAGGTCAGGCCTCTCTCAGGTCCCACATGTGTCTCTTTCAGTGAGGGCCTTGATGCTGGCTTCCCAGACCTGTCCCAGCTGGCTTGGGATGGTTGTGACAGCCACACCAGGAACAGGAGGGATTACTGCCCCTGCCCTTGCTAGAAGACTATGGGAAATGAGGAGGCAGGGCTGCCCAGCCTCATTAGGTTCTGTTCTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCTGTGGCGCTATCTCAGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCTGACCTCATGATCCGCCTGCCTCTGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCAGGTTCTGTTCTTAACCTGAAATGATACTCAGGAGCACCCCTGAGGCTTCTCTTCTGCTTCCTCCCCACAGCAGCAGTGTTGTACTGCTACTTCTATAAACGGACAGCCGTAAGACTAGGCGATCCTCACTTCTACCAGGACTCTTTGTGGCTGCGCAAGGAGTTCATGCAAGTTCGAAGGTGACCTCTTGTCACACTGATGGATACTTTTCCTTCCTGATAGAAGCCACATTTGCTGCTTTGCAGGGAGAGTTGGCCCTATGCATGGGCAAACAGCTGGACTTTCCAAGGAAGGTTCAGACTAGCTGTGTTCAGCATTCAAGAAGGAAGATCCTCCCTCTTGCACAATTAGAGTGTCCCCATCGGTCTCCAGTGCGGCATCCCTTCCTTGCCTTCTACCTCTGTTCCACCCCCTTTCCTTCCTTTCCTCTCTGTACCATTCATTCTCCCTGACCGGCCTTTCTTGCCGAGGGTTCTGTGGCTCTTACCCTTGTGAAGCTTTTCCTTTAGCCTGGGACAGAAGGACCTCCCAGCCCCCAAAGGATCTCCCAGTGACCAAAGGATGCGAAGAGTGATAGTTACGTGCTCCTGACTGATCACACCGCAGACATTTAGATTTTTATACCCAAGGCACTTTAAAAAAATGTTTTATAAATAGAGAATAAATTGAATTCTTGTTCCATAAATGGGGGAGTCTGTCTGTCTAGCTAGATCTCTTCATGTTAAGAGGCGTGCCAAGGTCCAGCTTAACATCTACTTGACCCAGAGGGAAGATGGAGCCACAGATGAAATACAGATCTTTGTTGAGATCCATTATGAGTACAAAGTATTTTAGCAGAAATTCAAGATGGAATCTGATGCTGCATCCCCCACTCCTGGAGCTCCAGATGTGTGTGCTCTGTTCAGACTCTCTTTCCTTATCAGAAGCCTTAACTGCCCTCAGAAGAATAAAAATATTCCCTTAGCCAGCTTTGGCAAAAGAAATTTTTAAAATTCTTATGTCCGTAGTATCAGTTTTCTATTGCCAGAATATTGTGTAACTCCACCACCAAAGTTCAGGGGCATACAGCAATCAACAGCTGCCTGGCTCTTTGTCTTGGGGTTCAGCTGATCAAGGCTGTGTGTGGGTGGTTTCATCTGGGCTCACTCTTGTGTCTGTCAGCTGCAGGTCAGCTAGGCAGCTGCGATGGCCTTGGGATCCACTGGCAGTTGGCTAGCCTTCATTGACCTCAGCTGGAGTGACTGTGGTTACTCAGCTCTAGTTTGCAGATTTACTTCCCACAGACTAGCCTGGATCTGCTCACACGCCAGTGGCAGAGCGGGAAAGTCCCAGTATGCAACCCCATTTCAAGCCTGTGCTTGTCTTGTGTCTCCTAGACTCCTGTTGATCAAGGCAAGTCACGCAACTAAGCCCAGAAACAAAGTGGCAAACGGTTACCAACCACAAGTTN | pathogenic | 176,509 |
Located at chromosome 11 position 61393215, the variant affecting gene TMEM216 (transmembrane protein 216)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_2', 'Meckel_syndrome,_type_2'] | GCCAGGGGTACAGCACTTTGCTTAAAGCTTAGTCACTCTTGGCCGGGGGCATTAATCACACCTGTAATCCCAGCACTTTGGGAGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGTCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATATTTAGCCGGGTGTGGTGGGGGGCACCTGTAATCCCCGCTACTTGGGAGGCTGAGACTGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGACCAGAGATAGCGCCATTGCACTCCAGCCTGGGTTACAAGAGCAAAACTCCGTCTCAAAAATAAAATGAAATAAATAAAATAAAGCTTAGTCACCTTCCTCAGGCTACCTGGTTGGAGCGTGCCATCTGTTTCCTGCTTTACCCTGATTGACAACGGGCTAACAGCCAAGTCAAGTCAACCTGAGTCCTCTCAAAACCCTTCTTTTTGCACTCCCCTGCCTGCAGCAACACAGTTTTCTGTTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTGCGGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCGAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGTAACTACTGGCGCGCGCCAGTACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGATTTCGAACTCCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCGCCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGC | GCCAGGGGTACAGCACTTTGCTTAAAGCTTAGTCACTCTTGGCCGGGGGCATTAATCACACCTGTAATCCCAGCACTTTGGGAGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGTCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATATTTAGCCGGGTGTGGTGGGGGGCACCTGTAATCCCCGCTACTTGGGAGGCTGAGACTGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGACCAGAGATAGCGCCATTGCACTCCAGCCTGGGTTACAAGAGCAAAACTCCGTCTCAAAAATAAAATGAAATAAATAAAATAAAGCTTAGTCACCTTCCTCAGGCTACCTGGTTGGAGCGTGCCATCTGTTTCCTGCTTTACCCTGATTGACAACGGGCTAACAGCCAAGTCAAGTCAACCTGAGTCCTCTCAAAACCCTTCTTTTTGCACTCCCCTGCCTGCAGCAACACAGTTTTCTGTTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTGCGGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCGAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGTAACTACTGGCGCGCGCCAGTACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGATTTCGAACTCCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCGCCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCNNNNNNNNNNNNNNN | pathogenic | 176,522 |
Chromosome 11, position 61393261, gene TMEM216 (transmembrane protein 216): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_2', 'Meckel_syndrome,_type_2'] | GGGCATTAATCACACCTGTAATCCCAGCACTTTGGGAGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGTCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATATTTAGCCGGGTGTGGTGGGGGGCACCTGTAATCCCCGCTACTTGGGAGGCTGAGACTGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGACCAGAGATAGCGCCATTGCACTCCAGCCTGGGTTACAAGAGCAAAACTCCGTCTCAAAAATAAAATGAAATAAATAAAATAAAGCTTAGTCACCTTCCTCAGGCTACCTGGTTGGAGCGTGCCATCTGTTTCCTGCTTTACCCTGATTGACAACGGGCTAACAGCCAAGTCAAGTCAACCTGAGTCCTCTCAAAACCCTTCTTTTTGCACTCCCCTGCCTGCAGCAACACAGTTTTCTGTTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTGCGGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCGAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGTAACTACTGGCGCGCGCCAGTACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGATTTCGAACTCCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCGCCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACA | GGGCATTAATCACACCTGTAATCCCAGCACTTTGGGAGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGTCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATATTTAGCCGGGTGTGGTGGGGGGCACCTGTAATCCCCGCTACTTGGGAGGCTGAGACTGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGACCAGAGATAGCGCCATTGCACTCCAGCCTGGGTTACAAGAGCAAAACTCCGTCTCAAAAATAAAATGAAATAAATAAAATAAAGCTTAGTCACCTTCCTCAGGCTACCTGGTTGGAGCGTGCCATCTGTTTCCTGCTTTACCCTGATTGACAACGGGCTAACAGCCAAGTCAAGTCAACCTGAGTCCTCTCAAAACCCTTCTTTTTGCACTCCCCTGCCTGCAGCAACACAGTTTTCTGTTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTGCGGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCGAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGTAACTACTGGCGCGCGCCAGTACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGATTTCGAACTCCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCGCCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAN | pathogenic | 176,525 |
Variant chromosome 11, position 61393937, gene TMEM216 (transmembrane protein 216): benign or pathogenic? Disease(s)? | pathogenic; ['Joubert_syndrome_2'] | GCCATGTTGGCCAGGCTGATTTCGAACTCCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCGCCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAAT | GCCATGTTGGCCAGGCTGATTTCGAACTCCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCCCTTTATCTTGGAATTGAAGTAATTCGCCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATN | pathogenic | 176,529 |
Regarding the variant found on chromosome 11 at position 61393968 in gene TMEM216 (transmembrane protein 216): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Joubert_syndrome_2', 'Meckel_syndrome,_type_2'] | GACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCGCCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATGTTTTACTGTTAGCCCCAACAATTTCACTTC | GACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCGCCTTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATGTTTTACTGTTAGCCCCAACAATTTCACTTCN | pathogenic | 176,535 |
The mutation impacting TMEM216 (transmembrane protein 216) on chromosome 11 at position 61393969: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_2', 'Meckel_syndrome,_type_2'] | ACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCGCCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATGTTTTACTGTTAGCCCCAACAATTTCACTTCT | ACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCGCCTGTTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATGTTTTACTGTTAGCCCCAACAATTTCACTTC | pathogenic | 176,536 |
Is the genetic variant on chromosome 11, position 61398259, gene TMEM216 (transmembrane protein 216), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGCAGATCACGAGTTCAGGAGATCGAGACCATCCTGGCCCACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTGCACCACTGCACTCTAGCCTGGCGAGAGAGCTAGACTCTGTCTCAAAAAATTAAAAAAAATTAAAAAGAACAGTTAAGGCCAGGTGCAGTGGCTCACGCCTGTAATCTTAGCACTGTGGGAGGCCGAGGCGAACGGATTGCCTGAGGTCAGGAGTTCGTGACCAGCCTGGCTAACATGGTGAAATCCTGTCTCTACTAAAAAATACGAAAATCAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGATAATCGCTTGTACCTGGGAGGTGGAGGTTGAAGTGAGCCGAGATCGCTCCATTGCACTCCAGCCTGGGTGACAAGAAACTCCGTCTCAATAAAAAAAAAAAAAAATTAGCTGGGCATAGTGACGTGTACCTATAGTGGGAAGATCCCTTCAGCCCAGGGGTTCGAGGCTGCAGTGAGCTATGATGATGCAATTGCACTCCAGCCTGGGTGACAGAATTAAACACTATCAAAAAAAAAAAAAAATTAAGGTAGCTATGTGTGTGGAAAAATGTTTGTGGGGGAAAAATAAGTTGCAAAACAGGATGTAGGGTATGCTTCTATTTTTATAATAATAAATAGTAATATGTGAATATATACGTATAAAAAATCTGAAACAATACACGTCATTCTCTAATAATCTTCAGGGTGTAGGGACATGGAGGTCTTTCACTTTCTATAGTCTCAAAAATTATTTTCTGTGTTGAAATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTTTGTTCCCCAGGCTGGAGTGCAGTGGCGTGACCTCTGCTCACTGCAAGCTCCACCTTCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTACTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTTGTGATCCACCTGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCATTGAAAATTTTTAAATGATTATATATTATTTTTATAATTAAAAATTTTGTTTTTCCCAAATAAAGATCCCATTGTCCCTTGAGTGGGAACCAGACTGGAAGCAGGACCTCTGGATTAAGTGACTTTAATCTTGTAGCTCTCCTAAGCCTCAAACTTTTAGTACAGTGGGACCCCATTTATAAATCTGCACACCCCCACTCAGGATTATTTTTTGTGCCTTGCCATTCCATCACATCTCCCACGCCTTTCCCCTGGGCCAGGAAAAGCAGACCATTTGGAGATGACTCCATGGGCTGTGTCTGACAGGTACAAAGGGAAACCTCTGCCAGCGAAAGATGCCGCTCAGTATTAGCGTGGCCTTGACCTTCCCATCTGCCATGATGGCCTCCTATTACCTGCTGCTGCAGACCTACGTACTCCGCCTGGAAGCCATCATGAATGGCATCTTGCTCTTCTTCTGTGGCTCAGAGCTTTTACTTGAGGTGCTCACCTTGGCTGCTTTCTCCAGGTACTGCTGCTGAGGGACCATTTCTCATCACTAGAGGGTTGGGTTCCCATCCCAGGGAGGGATTCAGTATTCTTCTGAAGCCTAAGGGGTCTAGAAGACTTTTTTCTAGAGGGAGGAAGGGGTGGCTATGGGATTGCCTTTCCTGTTTAGGGTAGGTAGATCGTTTCCCACTCAGGGAAGATACTCTCCCTATCCTTTGGGGCCAGGAGGCTTGGAATATAGAACAGTCGAGGCCAGCTGCTCTCATTCACTGGTCTTTTAACATTTTCTTTCTTTCTGCCATCGTATGGACAGGATTTGAAGTACAGAATTTCAGCCAGCAGCCCATCAGGCTGACACCACACATATTGCTTCTGGTACTTTAGCCACACCAGTGAGAATTGGTGGGGCAAGTTGTCCTGAGAAAGGCTGTGTGGCTTTTCTTCAGCACAGACATTTGGGCAAGCAACTCAGCATAAGGCCAGTGGGTACCATCTTCTAAACCAGGACCATCAGCCCAAGAGACTCTTCTACACTCCAGTATAGGGAGGGGCAAGGTTATTCCCATCCTGCCCCTTCTCAGAACCAGTCCCCTGCTGACCTCAAGTTCTCCTCCTTGATCACCGTGGCCAGAGCATCTCGTGTGGACCATCTAGGCTCCTTGGGCTTCAAGCAGGACCTGAGCCACATGCTCCCTGTACGAGCTGTGCTATACCTGTCCCACATGAGCACGGAGAGCCTCATGTTGGTGGGTTTCCAGAGTGATGTGAAAGCCTCTCACCCCAATCCTCGGAGACTGAGTTCCACAACTTTTTTAGTAGCTCATAGTGTTATTTTTCTACTCTCTTCATGAAACTAACTTTATTTTATAATAAATATGTATTTTCTGTTGTGGGGGTTGCAGCCTTTCCTTATGGCACCTGTCCCTAGAATTCATCCACTCCAAGAGAGGGTCATGACTATCCCAGCAGTTTGTTCTCAGGAGCTTTGCTTAGTGATACAGTGTGGACAAAAGGCAGTGATGACCACTGATTTTCTTCCCCAAGCTGCAGCCTAAATTAAACCCTAAATGCACTGCCATCCTCTGTATCTTCAAGTCTCTCGTCATGCAAAAGACTGCTTATTTGCTTCACTCTGCCCCAAAGTCAGCATCTTGTCTCACTCCTCTTACAGATAATTGTTAGCTTTTTTCCAGTGGGCCATGTGAAACTGGAAGAAGCATATTCTAAACTAACTTTTTTTTTTTTTTTAATTTTGGAGACAGTGTCTCAGTCTGTCATCCAGGCTGCAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCTAGCTCACGTGATCCTCCCACATCAGCCTCTCAAGTAGCTGGGACTACAGGCACACACCACCATGCCTGGCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGACTGGAGTACAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGAATACAGGTGTGCACCACCATGCCGGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGGTCTGCCTGCTGGCCTACCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCCACTAATTTTTGTATTTATTGTAGAGATGGGGTCTTTGTTGCTCAGGCTGGTCTGTAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTACCTCCTAATGTGCTCGGATTATAGGTGTGAGCCACTGCAACCAGCTGATGTTTTTTTTTTTTTTTTTTTGGTCATTTATTTTAGTATTTTGAGGCCTGGCACAGTGGCTTACACTTGTGATCCCAACATTTTGGGAGGCTGAAGCAGGAGGATTGCATGATTCCAGGAATTTGTGACCAGCCTGGGTAATATGGTGAGAACCTTGTCTCTACAAAAAATTTAAAAACAAGCCAGGTGTGGTGATGCGCACCTGTAGTCCCAGCTATTCAGGAGGCTGTGGCAGGAGGATAGCTTGAGCCCAGGAGGTCAAGACTGTAGTGAGCTATGTTTGTACCACTGTACTCCAGCCTGTGCAGGAGTGAGACCCTGTCTCAAAAATAAAATTTTGAGTCAACATAAAAGGAACACTTTTTTTTTTTTTTAAGCTGGAGAACTGTCACTCTAGATCAATGTATACTTTCTTTCTCCAAGTAAGCATCTTTAAAATTATTCCTCATTTCCTTGGTAGTGGCCATGTTTTTTAATTCCAAGAAGCCACGAGGAGCCATGACGGAATCCACT | TGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGCAGATCACGAGTTCAGGAGATCGAGACCATCCTGGCCCACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTGCACCACTGCACTCTAGCCTGGCGAGAGAGCTAGACTCTGTCTCAAAAAATTAAAAAAAATTAAAAAGAACAGTTAAGGCCAGGTGCAGTGGCTCACGCCTGTAATCTTAGCACTGTGGGAGGCCGAGGCGAACGGATTGCCTGAGGTCAGGAGTTCGTGACCAGCCTGGCTAACATGGTGAAATCCTGTCTCTACTAAAAAATACGAAAATCAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGATAATCGCTTGTACCTGGGAGGTGGAGGTTGAAGTGAGCCGAGATCGCTCCATTGCACTCCAGCCTGGGTGACAAGAAACTCCGTCTCAATAAAAAAAAAAAAAAATTAGCTGGGCATAGTGACGTGTACCTATAGTGGGAAGATCCCTTCAGCCCAGGGGTTCGAGGCTGCAGTGAGCTATGATGATGCAATTGCACTCCAGCCTGGGTGACAGAATTAAACACTATCAAAAAAAAAAAAAAATTAAGGTAGCTATGTGTGTGGAAAAATGTTTGTGGGGGAAAAATAAGTTGCAAAACAGGATGTAGGGTATGCTTCTATTTTTATAATAATAAATAGTAATATGTGAATATATACGTATAAAAAATCTGAAACAATACACGTCATTCTCTAATAATCTTCAGGGTGTAGGGACATGGAGGTCTTTCACTTTCTATAGTCTCAAAAATTATTTTCTGTGTTGAAATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTTTGTTCCCCAGGCTGGAGTGCAGTGGCGTGACCTCTGCTCACTGCAAGCTCCACCTTCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTACTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTTGTGATCCACCTGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCATTGAAAATTTTTAAATGATTATATATTATTTTTATAATTAAAAATTTTGTTTTTCCCAAATAAAGATCCCATTGTCCCTTGAGTGGGAACCAGACTGGAAGCAGGACCTCTGGATTAAGTGACTTTAATCTTGTAGCTCTCCTAAGCCTCAAACTTTTAGTACAGTGGGACCCCATTTATAAATCTGCACACCCCCACTCAGGATTATTTTTTGTGCCTTGCCATTCCATCACATCTCCCACGCCTTTCCCCTGGGCCAGGAAAAGCAGACCATTTGGAGATGACTCCATGGGCTGTGTCTGACAGGTACAAAGGGAAACCTCTGCCAGCGAAAGATGCCGCTCAGTATTAGCGTGGCCTTGACCTTCCCATCTGCCATGATGGCCTCCTATTACCTGCTGCTGCAGACCTACGTACTCCGCCTGGAAGCCATCATGAATGGCATCTTGCTCTTCTTCTGTGGCTCAGAGCTTTTACTTGAGGTGCTCACCTTGGCTGCTTTCTCCAGGTACTGCTGCTGAGGGACCATTTCTCATCACTAGAGGGTTGGGTTCCCATCCCAGGGAGGGATTCAGTATTCTTCTGAAGCCTAAGGGGTCTAGAAGACTTTTTTCTAGAGGGAGGAAGGGGTGGCTATGGGATTGCCTTTCCTGTTTAGGGTAGGTAGATCGTTTCCCACTCAGGGAAGATACTCTCCCTATCCTTTGGGGCCAGGAGGCTTGGAATATAGAACAGTCGAGGCCAGCTGCTCTCATTCACTGGTCTTTTAACATTTTCTTTCTTTCTGCCATCAGTATGGACAGGATTTGAAGTACAGAATTTCAGCCAGCAGCCCATCAGGCTGACACCACACATATTGCTTCTGGTACTTTAGCCACACCAGTGAGAATTGGTGGGGCAAGTTGTCCTGAGAAAGGCTGTGTGGCTTTTCTTCAGCACAGACATTTGGGCAAGCAACTCAGCATAAGGCCAGTGGGTACCATCTTCTAAACCAGGACCATCAGCCCAAGAGACTCTTCTACACTCCAGTATAGGGAGGGGCAAGGTTATTCCCATCCTGCCCCTTCTCAGAACCAGTCCCCTGCTGACCTCAAGTTCTCCTCCTTGATCACCGTGGCCAGAGCATCTCGTGTGGACCATCTAGGCTCCTTGGGCTTCAAGCAGGACCTGAGCCACATGCTCCCTGTACGAGCTGTGCTATACCTGTCCCACATGAGCACGGAGAGCCTCATGTTGGTGGGTTTCCAGAGTGATGTGAAAGCCTCTCACCCCAATCCTCGGAGACTGAGTTCCACAACTTTTTTAGTAGCTCATAGTGTTATTTTTCTACTCTCTTCATGAAACTAACTTTATTTTATAATAAATATGTATTTTCTGTTGTGGGGGTTGCAGCCTTTCCTTATGGCACCTGTCCCTAGAATTCATCCACTCCAAGAGAGGGTCATGACTATCCCAGCAGTTTGTTCTCAGGAGCTTTGCTTAGTGATACAGTGTGGACAAAAGGCAGTGATGACCACTGATTTTCTTCCCCAAGCTGCAGCCTAAATTAAACCCTAAATGCACTGCCATCCTCTGTATCTTCAAGTCTCTCGTCATGCAAAAGACTGCTTATTTGCTTCACTCTGCCCCAAAGTCAGCATCTTGTCTCACTCCTCTTACAGATAATTGTTAGCTTTTTTCCAGTGGGCCATGTGAAACTGGAAGAAGCATATTCTAAACTAACTTTTTTTTTTTTTTTAATTTTGGAGACAGTGTCTCAGTCTGTCATCCAGGCTGCAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCTAGCTCACGTGATCCTCCCACATCAGCCTCTCAAGTAGCTGGGACTACAGGCACACACCACCATGCCTGGCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGACTGGAGTACAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGAATACAGGTGTGCACCACCATGCCGGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGGTCTGCCTGCTGGCCTACCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCCACTAATTTTTGTATTTATTGTAGAGATGGGGTCTTTGTTGCTCAGGCTGGTCTGTAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTACCTCCTAATGTGCTCGGATTATAGGTGTGAGCCACTGCAACCAGCTGATGTTTTTTTTTTTTTTTTTTTGGTCATTTATTTTAGTATTTTGAGGCCTGGCACAGTGGCTTACACTTGTGATCCCAACATTTTGGGAGGCTGAAGCAGGAGGATTGCATGATTCCAGGAATTTGTGACCAGCCTGGGTAATATGGTGAGAACCTTGTCTCTACAAAAAATTTAAAAACAAGCCAGGTGTGGTGATGCGCACCTGTAGTCCCAGCTATTCAGGAGGCTGTGGCAGGAGGATAGCTTGAGCCCAGGAGGTCAAGACTGTAGTGAGCTATGTTTGTACCACTGTACTCCAGCCTGTGCAGGAGTGAGACCCTGTCTCAAAAATAAAATTTTGAGTCAACATAAAAGGAACACTTTTTTTTTTTTTTAAGCTGGAGAACTGTCACTCTAGATCAATGTATACTTTCTTTCTCCAAGTAAGCATCTTTAAAATTATTCCTCATTTCCTTGGTAGTGGCCATGTTTTTTAATTCCAAGAAGCCACGAGGAGCCATGACGGAATCCAC | benign | 176,546 |
The genetic variant at chromosome 11, position 61430152, affecting gene SDHAF2 (succinate dehydrogenase complex assembly factor 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_2'] | GAAATTTTGGAACATTCTTGAGAATTGACCTCAAGACTGAAAAACTTAACTGCATGGAAGATTATTTCTTTGAGAGAATTTTTCTTGTGTTTTTAAGAGTCAGGGTCTTGTTCTGTTGCCCAGGATAGAGTGCAGCGGCCCAATCATGGCTCACTGCAGCCTTGAATTCCTGGGCTCAGGGAGTACCTCTTGCCTCACTCTCCAGAGTAGATGGGACTACAGGCACAAGCCACCATATCTCGTTGTTGTTTTTTTTTACATTTTTGTAGACTGGGTCTTGGTATGTTGCCCTGGCTGGTATTGAACTTCTGGTCTTAAGTAATCTTCCCATCTCAGGCTCCAGAGCAGCTGAGATTACAGTCAAGAGCCACCTTGCCCAGCTCTAGATAAATTTCTGTATAATGTTCCCTGGTACAATAAAAACAAATCCAACTGAGGGTATGTGCATGGGTCTATTATCAGTTTTCTAACTGGTTTGTCTAACGTCTTTACTCTTTTATTCCCTCTAGAAAGACTAAAGGTAACCAATACAATTTATTATACCAAAATGCCTGTGGACTTCTCATGACTGGAGTCAACCTACTTATAAAAGGAAGTAAAACTTAATTGGAATGGAGTTGAAACTAAATGTTAAAGTCATCTTTTCTACTTTGCTTTTGCACTGTCACGATGGAGGGGACTACACTTCTCCAGCTGCAGGTTGAGAATGTAAAGGAACCGGTATCAACACTGTCCTCATGAATACCGTAGCAAATGTACTTTTGATTTTTAAGTGTGGTTAGTCTGACACCCACCTTTGGCTTCCTGGGGAGTAAATTCCACAGGTTGATTCACCATTCTATTACACCTGCTTTTTATTTGCTCTTAAATCAAAGCCTTTAAAATTAAGCCTGGAGCTTCAAATTAACATAAAGAGGAATGGAGTGTAGTCTTTAAAGTTTCTGCAGGAGAAAAATTTTAGACCGGATAGACGCGTGTTCAAGCCTAGGACTGGTACAGCTTGAAACCACTGCCAGTTTGCTGAAAATGATTCCTCAGATGATCAAGGAAAATCCCAAAGCTCCTGATGACACCTCACCTGGTTGAACTCCTCGTCAGCATATATATCAATCAAGTCCACTCCTTCTGACATGGCTCCGGAAGGAAGATCGCGAGTCCGGAGGATGGACAAAGTAAGGAAGATGCCACTGCGGGATTCGGAAAAATGCAAGAATTAGAAGGCACGAGGGTCCTGGGCTGGGAAGAGGGTAATGATTGCTAACCTCCCATCTCCAGAGACGCAGCATCCTGGCGGCCCCAGCTCGGCCCCACCCGCTCCGCCCCGCCCCCGGCCTCGCGCCGCCCACCGCTCTCCCAGGCCGCCGGGGGTCGCTGCCCATCACCCTCGGGCCCGACCCGGGTAGCGCCGCGTCTGCGCCGCAGCTGCCTATGGCGCGACGGAAAAGTCCCACCCTCGGGTCCTAGTGGCCCTAGGACGGCGTTGCGAAGAATGACCGCGGCGAAGCCCGCAGCCCCTATCCGCTGCACCTGCCTAGCCCCCAAGGCGGCTCCGGCCAGAGCCCCCAGGTGTCAAGCAGCTCCAGCCGCCTCTGCCCCCAACCCAGGCCTACTCTTCGCCCCCAGCTAGGCCCGCCCCGCTCCCTCCCGACAAACCCGGCCCGGCGCGCTCTGCCTCCTCCCTCAAAAGGCCCGCGACTCCCTCCGCCCGCAGACTCCGGCCGTCCCATCTCAACCGACCCCCTTCCCGCCTCAGTGCCGGCCCGGACCCCTCTTCCGGCCCAACCTGCCCCCGACCGCGCGCCCCCGTTACCGGGAATATGGCGGCGGCGGCGGCGAGTCCGGACTAGGCCCGAAGCGCGCGAACCGCTCTCCGCCCCAGGTCCCGCCCCCCCCGCCGCCGGCGTCACACGCACCGCCACTTCCGGCATGCGCAGGGACGCACCTTCCGGCTCAGCTCCTCCGTGGCTGCCGTGGTCGGCTGGCCGGGCGGCTAGGAGTTCCCGGAAGTGCCCGCGCAGCCGGTTTCCGGTGCAGGTGGGGAAAATGGCGGTGTCTACAGTGTTCTCGACTTCGTCGCTGGTGAGGAGAGAGAACGTTCTAGCGTCCGGGGCGGGCGGCAGCGGGGATTACCCTTTGTCTTCCTCTGTGGTCTCTATCTTGGGGAGAGTTCGTCTGCCCGATAGCGCAGGGCAAGGGCAGGCCCAGGGAGAGGCCGATCCTGCAACTCAGGAAATAAAGGTCGCTTCCATTCTTTGGTGAGCCTACTGTGTGCCGGTCTGGAAATATCTGCTTAAACGATCAGTCATCGTCCAAGACCCAATTCGCCTCTCACCTACGTCCCAGGCGGGATTAGCCCAACTTCCCTGGGCTCCCCTTCTCCCCGTTCTTTAGTCTTTAATGCTTTTCGTGGTTTCACATAGTATCTTCAGCTTTTTGTTTGTTTATAATTGACATATAATTGTACGTGTTTATGGGGGTACAGTATAATGTTTTAATACATGTGTACATCGAATAATCAAATCAGCGTAGTTAGCATGTCCATCACCTCAAATCTTTATCATTTATTTACGGTAATAACTTTTCAAGATCTTTTTCTAGCATCTTGACATATACAGTACAGTGTTATTAGCTGTAGTCACTCTAATATGTAATAGAACACTGGAACTTATTATTCTTTTTTCCTAGCCTGCTGTTATAAAGTAACTAACTTTGCCTCTATCTTCCCCTCCTACCCCCATCCCTATCTTTATTCTTTTTTTTTTTTCCTGCAGACCCAGGGACTCGATCTTTATTCTTTTTTGATGTAGGCGTTTACACTATAAACTTCCTTCTTAGTACAGCTTTTGTCGCATCTCATAATTTTGTATATGTTGGGTTTTAGTTTGTCTCAGGATATTTCCTTTTTGTTTGTTTTTTGTTGTTTTCCTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGCACGAACTTGGCTCACTGCAACCTCCACCTACCGGGTTCAAGCGATTCTTCCGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATCGCCATCATGCCTGGCTAATTTTTGTATTTTTGTAGAGATGGGGTTTCACCTTGTTGGCCAGGCAGGTCTCGAACTCCAGACTTAAGGTGATCCGTCCTTCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTCCCTTCTTTTTTCTTTTTTTCGTAGAGACAGGTTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCTTTCCAAAAAGTGCTGGGATTACTGGTGTGATCCACCATTCCCGGCGTGTCTCAAGATATTTTCTAATTTTCCTTTTGATGTCTTCTTTGACTCATTGATTGTTCAAGAGTGTGTTGTTTAATTTCCACATATTTGTGAATTTTCCACCTTTTCTTTTGCCATTGATTTCCAGATTTTAATAAAATGTCTCTTGTGCGGCATATAGTTGAATCTTTTTTTTAATTCATTATATTCAGCCACTTCATGTCTTTTGGTTGGGGAGGTTATGTTATGTTATGTTATTTTCTTGAGACAGAGTCTCGCTCTGTCGCCCAGGTTGGAGTGCAGTGGCATGATCTCGACTCACTGCAAGCTCCACCTCCTGGGTTCACGCCAATCTCCTGGTTTAGGAGTAGCTGGGACTACAGGCGCCCCCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGATTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCAGGCCTGGAGTTTAATCCATTTATACCTAAAGTAAATAGTGGCCGAGGTGGGTGGATCGTGTGAGTCCTGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCTTTTCTACTAAAAAAAATTAGTCAGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCGGGAGTGCGTCTGAGAAGTCAAGGCTGCGGTGAGCC | GAAATTTTGGAACATTCTTGAGAATTGACCTCAAGACTGAAAAACTTAACTGCATGGAAGATTATTTCTTTGAGAGAATTTTTCTTGTGTTTTTAAGAGTCAGGGTCTTGTTCTGTTGCCCAGGATAGAGTGCAGCGGCCCAATCATGGCTCACTGCAGCCTTGAATTCCTGGGCTCAGGGAGTACCTCTTGCCTCACTCTCCAGAGTAGATGGGACTACAGGCACAAGCCACCATATCTCGTTGTTGTTTTTTTTTACATTTTTGTAGACTGGGTCTTGGTATGTTGCCCTGGCTGGTATTGAACTTCTGGTCTTAAGTAATCTTCCCATCTCAGGCTCCAGAGCAGCTGAGATTACAGTCAAGAGCCACCTTGCCCAGCTCTAGATAAATTTCTGTATAATGTTCCCTGGTACAATAAAAACAAATCCAACTGAGGGTATGTGCATGGGTCTATTATCAGTTTTCTAACTGGTTTGTCTAACGTCTTTACTCTTTTATTCCCTCTAGAAAGACTAAAGGTAACCAATACAATTTATTATACCAAAATGCCTGTGGACTTCTCATGACTGGAGTCAACCTACTTATAAAAGGAAGTAAAACTTAATTGGAATGGAGTTGAAACTAAATGTTAAAGTCATCTTTTCTACTTTGCTTTTGCACTGTCACGATGGAGGGGACTACACTTCTCCAGCTGCAGGTTGAGAATGTAAAGGAACCGGTATCAACACTGTCCTCATGAATACCGTAGCAAATGTACTTTTGATTTTTAAGTGTGGTTAGTCTGACACCCACCTTTGGCTTCCTGGGGAGTAAATTCCACAGGTTGATTCACCATTCTATTACACCTGCTTTTTATTTGCTCTTAAATCAAAGCCTTTAAAATTAAGCCTGGAGCTTCAAATTAACATAAAGAGGAATGGAGTGTAGTCTTTAAAGTTTCTGCAGGAGAAAAATTTTAGACCGGATAGACGCGTGTTCAAGCCTAGGACTGGTACAGCTTGAAACCACTGCCAGTTTGCTGAAAATGATTCCTCAGATGATCAAGGAAAATCCCAAAGCTCCTGATGACACCTCACCTGGTTGAACTCCTCGTCAGCATATATATCAATCAAGTCCACTCCTTCTGACATGGCTCCGGAAGGAAGATCGCGAGTCCGGAGGATGGACAAAGTAAGGAAGATGCCACTGCGGGATTCGGAAAAATGCAAGAATTAGAAGGCACGAGGGTCCTGGGCTGGGAAGAGGGTAATGATTGCTAACCTCCCATCTCCAGAGACGCAGCATCCTGGCGGCCCCAGCTCGGCCCCACCCGCTCCGCCCCGCCCCCGGCCTCGCGCCGCCCACCGCTCTCCCAGGCCGCCGGGGGTCGCTGCCCATCACCCTCGGGCCCGACCCGGGTAGCGCCGCGTCTGCGCCGCAGCTGCCTATGGCGCGACGGAAAAGTCCCACCCTCGGGTCCTAGTGGCCCTAGGACGGCGTTGCGAAGAATGACCGCGGCGAAGCCCGCAGCCCCTATCCGCTGCACCTGCCTAGCCCCCAAGGCGGCTCCGGCCAGAGCCCCCAGGTGTCAAGCAGCTCCAGCCGCCTCTGCCCCCAACCCAGGCCTACTCTTCGCCCCCAGCTAGGCCCGCCCCGCTCCCTCCCGACAAACCCGGCCCGGCGCGCTCTGCCTCCTCCCTCAAAAGGCCCGCGACTCCCTCCGCCCGCAGACTCCGGCCGTCCCATCTCAACCGACCCCCTTCCCGCCTCAGTGCCGGCCCGGACCCCTCTTCCGGCCCAACCTGCCCCCGACCGCGCGCCCCCGTTACCGGGAATATGGCGGCGGCGGCGGCGAGTCCGGACTAGGCCCGAAGCGCGCGAACCGCTCTCCGCCCCAGGTCCCGCCCCCCCCGCCGCCGGCGTCACACGCACCGCCACTTCCGGCATGCGCAGGGACGCACCTTCCGGCTCAGCTCCTCCGTGGCTGCCGTGGTCGGCTGGCCGGGCGGCTAGGAGTTCCCGGAAGTGCCCGCGCAGCCGGTTTCCGGTGCAGGTGGGGAAAATGGCGGTTCTCGACTTCGTCGCTGGTGAGGAGAGAGAACGTTCTAGCGTCCGGGGCGGGCGGCAGCGGGGATTACCCTTTGTCTTCCTCTGTGGTCTCTATCTTGGGGAGAGTTCGTCTGCCCGATAGCGCAGGGCAAGGGCAGGCCCAGGGAGAGGCCGATCCTGCAACTCAGGAAATAAAGGTCGCTTCCATTCTTTGGTGAGCCTACTGTGTGCCGGTCTGGAAATATCTGCTTAAACGATCAGTCATCGTCCAAGACCCAATTCGCCTCTCACCTACGTCCCAGGCGGGATTAGCCCAACTTCCCTGGGCTCCCCTTCTCCCCGTTCTTTAGTCTTTAATGCTTTTCGTGGTTTCACATAGTATCTTCAGCTTTTTGTTTGTTTATAATTGACATATAATTGTACGTGTTTATGGGGGTACAGTATAATGTTTTAATACATGTGTACATCGAATAATCAAATCAGCGTAGTTAGCATGTCCATCACCTCAAATCTTTATCATTTATTTACGGTAATAACTTTTCAAGATCTTTTTCTAGCATCTTGACATATACAGTACAGTGTTATTAGCTGTAGTCACTCTAATATGTAATAGAACACTGGAACTTATTATTCTTTTTTCCTAGCCTGCTGTTATAAAGTAACTAACTTTGCCTCTATCTTCCCCTCCTACCCCCATCCCTATCTTTATTCTTTTTTTTTTTTCCTGCAGACCCAGGGACTCGATCTTTATTCTTTTTTGATGTAGGCGTTTACACTATAAACTTCCTTCTTAGTACAGCTTTTGTCGCATCTCATAATTTTGTATATGTTGGGTTTTAGTTTGTCTCAGGATATTTCCTTTTTGTTTGTTTTTTGTTGTTTTCCTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGCACGAACTTGGCTCACTGCAACCTCCACCTACCGGGTTCAAGCGATTCTTCCGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATCGCCATCATGCCTGGCTAATTTTTGTATTTTTGTAGAGATGGGGTTTCACCTTGTTGGCCAGGCAGGTCTCGAACTCCAGACTTAAGGTGATCCGTCCTTCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTCCCTTCTTTTTTCTTTTTTTCGTAGAGACAGGTTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCTTTCCAAAAAGTGCTGGGATTACTGGTGTGATCCACCATTCCCGGCGTGTCTCAAGATATTTTCTAATTTTCCTTTTGATGTCTTCTTTGACTCATTGATTGTTCAAGAGTGTGTTGTTTAATTTCCACATATTTGTGAATTTTCCACCTTTTCTTTTGCCATTGATTTCCAGATTTTAATAAAATGTCTCTTGTGCGGCATATAGTTGAATCTTTTTTTTAATTCATTATATTCAGCCACTTCATGTCTTTTGGTTGGGGAGGTTATGTTATGTTATGTTATTTTCTTGAGACAGAGTCTCGCTCTGTCGCCCAGGTTGGAGTGCAGTGGCATGATCTCGACTCACTGCAAGCTCCACCTCCTGGGTTCACGCCAATCTCCTGGTTTAGGAGTAGCTGGGACTACAGGCGCCCCCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGATTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCAGGCCTGGAGTTTAATCCATTTATACCTAAAGTAAATAGTGGCCGAGGTGGGTGGATCGTGTGAGTCCTGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCTTTTCTACTAAAAAAAATTAGTCAGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCGGGAGTGCGTCTGAGAAGTCAAGGCTGCGGTGAGCCNNNNNNNNNNN | pathogenic | 176,553 |
Variant at chromosome 11, position 61437625, gene SDHAF2 (succinate dehydrogenase complex assembly factor 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_2'] | TTTACTGAGGATGTGTCTTTTCTGGACTTGCGGATGTAAATTCCCATTTAGAGGGATTTGCCGGTTTCCTTTTTCAGGAGCCCATAATCTCTTGCTCCCTCTAGTGTCTGCGTATGATACTGCAGTTTCTCTGGAGCTGCTACAAGTCTCCCAGCTGTCGGTGGCCTCCAGACTTTTAGAGTATGCCATGTCCCATCAGTGCCCCAAGCTGGGCAAGACAGAAACCAGTCCCTCTGGTAGCTTCCCCAAAGGACAGAATGTTACGACTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTGTCTCTACTAAAAATACAAAATCAGACGGGCGTGGTGGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGTCAGAATATTAGATGCACACTCCACTCCCCTCAACCCTGGGAGAGGCCACTGGGCTGTATTGGCCTTTCTCTGCAGTTTCAGGGATCCTCTGGATCAGCAGCAGGCCACCCAGGCATTTAGAGTGTGCTAGATCCTTTCAAGTGCTTAGAGACAGAAACCAGTCCCCCAGAGAGCCCCAAAAAGCTAGAATGTTGGATGCATACTGCACCTGTTTCCCTCCCTAGGGAGAAGCTGGGAGGTGGGAGTTTTCTCCTGCTTGTTCTGCACTGAGCCAAGGATGAGTGATGAGGGAGTGAGTGCTTGCCAGTCTAAACTGTCACCTTTGTTCTCCATGGTTCTTTGTTCTCCCTCAACCTGCTGCCCTTTTCTGTTAGCACTTAGATTCAAACAAAACAGAAACCTGATCCCCCCAAAAGTCCGAACATTATACATACTTTTCAGTCTTCTCTTTCTGTCTCAGGTAGAAGCTAGGAGCTGGGGGTTATCTCATGATCATGCTTGAGCAGGGAGGGAAGAGACTATGGCAAATGAGTGCTACAAATTTTTCTGCTGGATTCGATGCAGCTGGTTTTGTGCTCACCTGGGGAGCAGGAGCCTCTTACTGGTTTCTGGATTTCTCACAGGGAATTGGTTTGTTTGTTGCTGTTGGCTCAGTGTCTCCATCGGGGAAGGAGGATCTGGGGTTTCCTACTCCACCATCTTCACCTCTTGCTGAGGTCACCACCTTGACATCATATCTTGATAAGTTGTCAACTTCTCTGGATTGGGAGCCTTTGGGGGATTAGGGATCATGCTGTCTCTGTGTGCTCAGGATTTGACACAGGTGAGTGAGTAGAGTATAAACCACACTGTAAGAATTTTAAGGGAGTGCAAAGGAAGGAAAAATTATTTCTGCTGGGATAGTTTCTGGAAAGGCACTGGTTAGGGACACATTTGCAGTTAGGACTGTGTTTTAATTCTAATTGCAGTTACTATTTGGATGATTTTGGGTGAGTTATTGAACCTTCCTGAGCCTCTGTTTCCTTGGCTATAAAGTGGGGACAATATCAGCATAATTTCTTTTCTTTTTTCAGGGGGATAGGGTCCGTTGCCCAGGCTGGAATGCAGTGGTACGATCACAGCTCACTGCAGCGTTGACCTTCCCAGGCTCAGATGATCTTCCCACTTCAGCCTCCTGAGTAGCTGGGACCACAGGCACCATGGTGGGACTACCCCACTATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTCTCGCTATGTTGCTCAGGCTGGTCTCGAACTCCTGAACTCAAGTAATCATGCTCGCGTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCACGCCTGGCCAGCAGTGTAATTTCCTCATGACTAAATGTGATTGAATGCATTCAGCACCTAGTAAGCATTGAGTAAATGATAGCGATGATAGTCGTCATTATTGTAAAGATGTTTGTGGTTTGTTCATTTCAGATGCTTGCTCTGTCAAGGCACAGCCTATTGTCTCCTTTGCTCAGTGTGACATCATTCAGACGCTTCTACAGAGGTGACAGCCCAACAGATTCCCAAAAGGACATGATTGAAATCCCTTTGCCTCCATGGCAGGAGAGAACTGATGAATCCATAGAAACCAAAAGAGCCCGCCTGCTCTATGAGAGCAGAAAGAGGGGAATGTTGGAAAACTGCATTCTTCTTAGGTATGGGACTAGGAGTCTTTTTTTTTAAATCGGGCAGCTTCCTGAGCCAGAGTAGGTTCAGAGAGACTCCCAGGAGTAGGAGTCTTGGTGTCACTTCTCTTTTATTAGACACAGCCTTCTCAACCTCTTTTTCTTTTTTTCTTTCTTGTTTTTAGTCTTTTTGCTAAAGAACATCTGCAGCACATGACAGAAAAGCAGCTGAACCTCTATGACCGCCTGATTAACGAGCCTAGTAATGACTGGGATATTTACTACTGGGCCACAGGTACTGGGTATGATAAGCAGCATAATGTGAAAATAGGACAGTTTAGGCTGATTTGAGTCTAGAATTGTATCCTAGATAATTTTTTTCTTTCTTTTTTTTTTTTGAGACTGAGTTTCACTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTACCTTCCAGGTTCAAGCGATTCTCCAGCCTCAGCCTCCTGAGTACCTGGGATTACAGGCATGTGTCACCACACCCGGGTAATTTTATATTTTTAATAGAGACAGGGTTTCTCTGTGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAATCCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTTATAATTTTTTTCTTTTATTCATGAAGTAGACACTCAACCCAAACACTGTTCAAATTTTTGTTAAGTGTACAAAATTTATCAGTTAAAGTTCTTTATTTGCGAGACAGAGTGGAAACTTGTTTGTCTCACTTAAGCAAAAAGGAATTTAGTGGAAGGGTATATGAAGCTCACAGTATCAAAGGTTGAAGAAGAACCACTCTGGGAATGGAGTGGAATCAGACAACTAAGTCTGCATAGCCAAAGCTCCTCAATAGTTTCATTCTGGCCGGCCGCAGTGGCTCATGCCTCTAATCTGAGCACTTTGGGAGGCTGAGGCGGATGGATCGCTTGAGGTTAGGAGCTTGAGAGCAGCCTGGCCAACACAGCGAAACCTCATCTCTCCAAAAATTCAAAAATTAGCCGAACATGGTGGCGGACAACTGCAGTCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAGCCTGGGAGACAGAGATTGCAGTGAGCTGAGATTGCACCACTGCACTCCATCCTGGGCAAAAGAGTGAGACTATGTCTCAAAAAAAAAAAAGTTTCATTCAGGCACTACCTTTATGAGGAATGAATTCTAACTGTGTATAGTTAGGATTAACTTTGGCTATGAGTAAAAAAACATCCAAAACAGTAATGGCTTAAACAAGGTAGAACTGTCTTTCTCATGACAGAAGTCCAGAGGAAGGCACACTCCAGAGCTCATAGAGGGGCTTCAAAAAGTCATGGGTCCAGGTCCCCCCTACTTGCTGCTCTTTCATCCTAGCATGTGTTTTCTACTTCTTGATCCAGGACAGCCATATTTCAGCCCGGAAAAAGTGTGTGGAAGTGCATACCCCTCCTTTGTAGATCCCGCTCAGGAAATTATCCAGCATACTTCCACTTATTTGCCATTGGCCACAGCTTAGTTACTTGGCTACGTCTAACCATAAGGAAAAATAATATAGTCTATTCCATCTGCCCAGCTGTGTTGGAGATTCTGTTATCGATGAAAACTGGATATTAGGGGACGTGTCATTCATTCTGCCACACTCCGGGACTGCTGTTTTTGTGTCTCCACTCAATATTTGTATCAGAAAGTAGCAGCCATTGTCTATGGGTTCCAGGTATGAAGAGTGATAAGACAGAGTCTGGAGCCTTATACAATCACTGGAAAGC | TTTACTGAGGATGTGTCTTTTCTGGACTTGCGGATGTAAATTCCCATTTAGAGGGATTTGCCGGTTTCCTTTTTCAGGAGCCCATAATCTCTTGCTCCCTCTAGTGTCTGCGTATGATACTGCAGTTTCTCTGGAGCTGCTACAAGTCTCCCAGCTGTCGGTGGCCTCCAGACTTTTAGAGTATGCCATGTCCCATCAGTGCCCCAAGCTGGGCAAGACAGAAACCAGTCCCTCTGGTAGCTTCCCCAAAGGACAGAATGTTACGACTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTGTCTCTACTAAAAATACAAAATCAGACGGGCGTGGTGGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGTCAGAATATTAGATGCACACTCCACTCCCCTCAACCCTGGGAGAGGCCACTGGGCTGTATTGGCCTTTCTCTGCAGTTTCAGGGATCCTCTGGATCAGCAGCAGGCCACCCAGGCATTTAGAGTGTGCTAGATCCTTTCAAGTGCTTAGAGACAGAAACCAGTCCCCCAGAGAGCCCCAAAAAGCTAGAATGTTGGATGCATACTGCACCTGTTTCCCTCCCTAGGGAGAAGCTGGGAGGTGGGAGTTTTCTCCTGCTTGTTCTGCACTGAGCCAAGGATGAGTGATGAGGGAGTGAGTGCTTGCCAGTCTAAACTGTCACCTTTGTTCTCCATGGTTCTTTGTTCTCCCTCAACCTGCTGCCCTTTTCTGTTAGCACTTAGATTCAAACAAAACAGAAACCTGATCCCCCCAAAAGTCCGAACATTATACATACTTTTCAGTCTTCTCTTTCTGTCTCAGGTAGAAGCTAGGAGCTGGGGGTTATCTCATGATCATGCTTGAGCAGGGAGGGAAGAGACTATGGCAAATGAGTGCTACAAATTTTTCTGCTGGATTCGATGCAGCTGGTTTTGTGCTCACCTGGGGAGCAGGAGCCTCTTACTGGTTTCTGGATTTCTCACAGGGAATTGGTTTGTTTGTTGCTGTTGGCTCAGTGTCTCCATCGGGGAAGGAGGATCTGGGGTTTCCTACTCCACCATCTTCACCTCTTGCTGAGGTCACCACCTTGACATCATATCTTGATAAGTTGTCAACTTCTCTGGATTGGGAGCCTTTGGGGGATTAGGGATCATGCTGTCTCTGTGTGCTCAGGATTTGACACAGGTGAGTGAGTAGAGTATAAACCACACTGTAAGAATTTTAAGGGAGTGCAAAGGAAGGAAAAATTATTTCTGCTGGGATAGTTTCTGGAAAGGCACTGGTTAGGGACACATTTGCAGTTAGGACTGTGTTTTAATTCTAATTGCAGTTACTATTTGGATGATTTTGGGTGAGTTATTGAACCTTCCTGAGCCTCTGTTTCCTTGGCTATAAAGTGGGGACAATATCAGCATAATTTCTTTTCTTTTTTCAGGGGGATAGGGTCCGTTGCCCAGGCTGGAATGCAGTGGTACGATCACAGCTCACTGCAGCGTTGACCTTCCCAGGCTCAGATGATCTTCCCACTTCAGCCTCCTGAGTAGCTGGGACCACAGGCACCATGGTGGGACTACCCCACTATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTCTCGCTATGTTGCTCAGGCTGGTCTCGAACTCCTGAACTCAAGTAATCATGCTCGCGTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCACGCCTGGCCAGCAGTGTAATTTCCTCATGACTAAATGTGATTGAATGCATTCAGCACCTAGTAAGCATTGAGTAAATGATAGCGATGATAGTCGTCATTATTGTAAAGATGTTTGTGGTTTGTTCATTTCAGATGCTCTGTCAAGGCACAGCCTATTGTCTCCTTTGCTCAGTGTGACATCATTCAGACGCTTCTACAGAGGTGACAGCCCAACAGATTCCCAAAAGGACATGATTGAAATCCCTTTGCCTCCATGGCAGGAGAGAACTGATGAATCCATAGAAACCAAAAGAGCCCGCCTGCTCTATGAGAGCAGAAAGAGGGGAATGTTGGAAAACTGCATTCTTCTTAGGTATGGGACTAGGAGTCTTTTTTTTTAAATCGGGCAGCTTCCTGAGCCAGAGTAGGTTCAGAGAGACTCCCAGGAGTAGGAGTCTTGGTGTCACTTCTCTTTTATTAGACACAGCCTTCTCAACCTCTTTTTCTTTTTTTCTTTCTTGTTTTTAGTCTTTTTGCTAAAGAACATCTGCAGCACATGACAGAAAAGCAGCTGAACCTCTATGACCGCCTGATTAACGAGCCTAGTAATGACTGGGATATTTACTACTGGGCCACAGGTACTGGGTATGATAAGCAGCATAATGTGAAAATAGGACAGTTTAGGCTGATTTGAGTCTAGAATTGTATCCTAGATAATTTTTTTCTTTCTTTTTTTTTTTTGAGACTGAGTTTCACTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTACCTTCCAGGTTCAAGCGATTCTCCAGCCTCAGCCTCCTGAGTACCTGGGATTACAGGCATGTGTCACCACACCCGGGTAATTTTATATTTTTAATAGAGACAGGGTTTCTCTGTGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAATCCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTTATAATTTTTTTCTTTTATTCATGAAGTAGACACTCAACCCAAACACTGTTCAAATTTTTGTTAAGTGTACAAAATTTATCAGTTAAAGTTCTTTATTTGCGAGACAGAGTGGAAACTTGTTTGTCTCACTTAAGCAAAAAGGAATTTAGTGGAAGGGTATATGAAGCTCACAGTATCAAAGGTTGAAGAAGAACCACTCTGGGAATGGAGTGGAATCAGACAACTAAGTCTGCATAGCCAAAGCTCCTCAATAGTTTCATTCTGGCCGGCCGCAGTGGCTCATGCCTCTAATCTGAGCACTTTGGGAGGCTGAGGCGGATGGATCGCTTGAGGTTAGGAGCTTGAGAGCAGCCTGGCCAACACAGCGAAACCTCATCTCTCCAAAAATTCAAAAATTAGCCGAACATGGTGGCGGACAACTGCAGTCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAGCCTGGGAGACAGAGATTGCAGTGAGCTGAGATTGCACCACTGCACTCCATCCTGGGCAAAAGAGTGAGACTATGTCTCAAAAAAAAAAAAGTTTCATTCAGGCACTACCTTTATGAGGAATGAATTCTAACTGTGTATAGTTAGGATTAACTTTGGCTATGAGTAAAAAAACATCCAAAACAGTAATGGCTTAAACAAGGTAGAACTGTCTTTCTCATGACAGAAGTCCAGAGGAAGGCACACTCCAGAGCTCATAGAGGGGCTTCAAAAAGTCATGGGTCCAGGTCCCCCCTACTTGCTGCTCTTTCATCCTAGCATGTGTTTTCTACTTCTTGATCCAGGACAGCCATATTTCAGCCCGGAAAAAGTGTGTGGAAGTGCATACCCCTCCTTTGTAGATCCCGCTCAGGAAATTATCCAGCATACTTCCACTTATTTGCCATTGGCCACAGCTTAGTTACTTGGCTACGTCTAACCATAAGGAAAAATAATATAGTCTATTCCATCTGCCCAGCTGTGTTGGAGATTCTGTTATCGATGAAAACTGGATATTAGGGGACGTGTCATTCATTCTGCCACACTCCGGGACTGCTGTTTTTGTGTCTCCACTCAATATTTGTATCAGAAAGTAGCAGCCATTGTCTATGGGTTCCAGGTATGAAGAGTGATAAGACAGAGTCTGGAGCCTTATACAATCACTGGAAAGCNNNN | pathogenic | 176,568 |
The chromosome 11, position 61437783 genetic variant in gene SDHAF2 (succinate dehydrogenase complex assembly factor 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma'] | CGGTGGCCTCCAGACTTTTAGAGTATGCCATGTCCCATCAGTGCCCCAAGCTGGGCAAGACAGAAACCAGTCCCTCTGGTAGCTTCCCCAAAGGACAGAATGTTACGACTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTGTCTCTACTAAAAATACAAAATCAGACGGGCGTGGTGGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGTCAGAATATTAGATGCACACTCCACTCCCCTCAACCCTGGGAGAGGCCACTGGGCTGTATTGGCCTTTCTCTGCAGTTTCAGGGATCCTCTGGATCAGCAGCAGGCCACCCAGGCATTTAGAGTGTGCTAGATCCTTTCAAGTGCTTAGAGACAGAAACCAGTCCCCCAGAGAGCCCCAAAAAGCTAGAATGTTGGATGCATACTGCACCTGTTTCCCTCCCTAGGGAGAAGCTGGGAGGTGGGAGTTTTCTCCTGCTTGTTCTGCACTGAGCCAAGGATGAGTGATGAGGGAGTGAGTGCTTGCCAGTCTAAACTGTCACCTTTGTTCTCCATGGTTCTTTGTTCTCCCTCAACCTGCTGCCCTTTTCTGTTAGCACTTAGATTCAAACAAAACAGAAACCTGATCCCCCCAAAAGTCCGAACATTATACATACTTTTCAGTCTTCTCTTTCTGTCTCAGGTAGAAGCTAGGAGCTGGGGGTTATCTCATGATCATGCTTGAGCAGGGAGGGAAGAGACTATGGCAAATGAGTGCTACAAATTTTTCTGCTGGATTCGATGCAGCTGGTTTTGTGCTCACCTGGGGAGCAGGAGCCTCTTACTGGTTTCTGGATTTCTCACAGGGAATTGGTTTGTTTGTTGCTGTTGGCTCAGTGTCTCCATCGGGGAAGGAGGATCTGGGGTTTCCTACTCCACCATCTTCACCTCTTGCTGAGGTCACCACCTTGACATCATATCTTGATAAGTTGTCAACTTCTCTGGATTGGGAGCCTTTGGGGGATTAGGGATCATGCTGTCTCTGTGTGCTCAGGATTTGACACAGGTGAGTGAGTAGAGTATAAACCACACTGTAAGAATTTTAAGGGAGTGCAAAGGAAGGAAAAATTATTTCTGCTGGGATAGTTTCTGGAAAGGCACTGGTTAGGGACACATTTGCAGTTAGGACTGTGTTTTAATTCTAATTGCAGTTACTATTTGGATGATTTTGGGTGAGTTATTGAACCTTCCTGAGCCTCTGTTTCCTTGGCTATAAAGTGGGGACAATATCAGCATAATTTCTTTTCTTTTTTCAGGGGGATAGGGTCCGTTGCCCAGGCTGGAATGCAGTGGTACGATCACAGCTCACTGCAGCGTTGACCTTCCCAGGCTCAGATGATCTTCCCACTTCAGCCTCCTGAGTAGCTGGGACCACAGGCACCATGGTGGGACTACCCCACTATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTCTCGCTATGTTGCTCAGGCTGGTCTCGAACTCCTGAACTCAAGTAATCATGCTCGCGTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCACGCCTGGCCAGCAGTGTAATTTCCTCATGACTAAATGTGATTGAATGCATTCAGCACCTAGTAAGCATTGAGTAAATGATAGCGATGATAGTCGTCATTATTGTAAAGATGTTTGTGGTTTGTTCATTTCAGATGCTTGCTCTGTCAAGGCACAGCCTATTGTCTCCTTTGCTCAGTGTGACATCATTCAGACGCTTCTACAGAGGTGACAGCCCAACAGATTCCCAAAAGGACATGATTGAAATCCCTTTGCCTCCATGGCAGGAGAGAACTGATGAATCCATAGAAACCAAAAGAGCCCGCCTGCTCTATGAGAGCAGAAAGAGGGGAATGTTGGAAAACTGCATTCTTCTTAGGTATGGGACTAGGAGTCTTTTTTTTTAAATCGGGCAGCTTCCTGAGCCAGAGTAGGTTCAGAGAGACTCCCAGGAGTAGGAGTCTTGGTGTCACTTCTCTTTTATTAGACACAGCCTTCTCAACCTCTTTTTCTTTTTTTCTTTCTTGTTTTTAGTCTTTTTGCTAAAGAACATCTGCAGCACATGACAGAAAAGCAGCTGAACCTCTATGACCGCCTGATTAACGAGCCTAGTAATGACTGGGATATTTACTACTGGGCCACAGGTACTGGGTATGATAAGCAGCATAATGTGAAAATAGGACAGTTTAGGCTGATTTGAGTCTAGAATTGTATCCTAGATAATTTTTTTCTTTCTTTTTTTTTTTTGAGACTGAGTTTCACTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTACCTTCCAGGTTCAAGCGATTCTCCAGCCTCAGCCTCCTGAGTACCTGGGATTACAGGCATGTGTCACCACACCCGGGTAATTTTATATTTTTAATAGAGACAGGGTTTCTCTGTGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAATCCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTTATAATTTTTTTCTTTTATTCATGAAGTAGACACTCAACCCAAACACTGTTCAAATTTTTGTTAAGTGTACAAAATTTATCAGTTAAAGTTCTTTATTTGCGAGACAGAGTGGAAACTTGTTTGTCTCACTTAAGCAAAAAGGAATTTAGTGGAAGGGTATATGAAGCTCACAGTATCAAAGGTTGAAGAAGAACCACTCTGGGAATGGAGTGGAATCAGACAACTAAGTCTGCATAGCCAAAGCTCCTCAATAGTTTCATTCTGGCCGGCCGCAGTGGCTCATGCCTCTAATCTGAGCACTTTGGGAGGCTGAGGCGGATGGATCGCTTGAGGTTAGGAGCTTGAGAGCAGCCTGGCCAACACAGCGAAACCTCATCTCTCCAAAAATTCAAAAATTAGCCGAACATGGTGGCGGACAACTGCAGTCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAGCCTGGGAGACAGAGATTGCAGTGAGCTGAGATTGCACCACTGCACTCCATCCTGGGCAAAAGAGTGAGACTATGTCTCAAAAAAAAAAAAGTTTCATTCAGGCACTACCTTTATGAGGAATGAATTCTAACTGTGTATAGTTAGGATTAACTTTGGCTATGAGTAAAAAAACATCCAAAACAGTAATGGCTTAAACAAGGTAGAACTGTCTTTCTCATGACAGAAGTCCAGAGGAAGGCACACTCCAGAGCTCATAGAGGGGCTTCAAAAAGTCATGGGTCCAGGTCCCCCCTACTTGCTGCTCTTTCATCCTAGCATGTGTTTTCTACTTCTTGATCCAGGACAGCCATATTTCAGCCCGGAAAAAGTGTGTGGAAGTGCATACCCCTCCTTTGTAGATCCCGCTCAGGAAATTATCCAGCATACTTCCACTTATTTGCCATTGGCCACAGCTTAGTTACTTGGCTACGTCTAACCATAAGGAAAAATAATATAGTCTATTCCATCTGCCCAGCTGTGTTGGAGATTCTGTTATCGATGAAAACTGGATATTAGGGGACGTGTCATTCATTCTGCCACACTCCGGGACTGCTGTTTTTGTGTCTCCACTCAATATTTGTATCAGAAAGTAGCAGCCATTGTCTATGGGTTCCAGGTATGAAGAGTGATAAGACAGAGTCTGGAGCCTTATACAATCACTGGAAAGCCAACAAAGTCCAAATATTTACTCTCCAACCCTTTACAGAACAAGTTTGCCCTGACTTAGCATAATGCATTTGAGATGCGTATCCTTGTTGTTACTTGTATCAATAGTTCATTCTTTTGTGTTGAGTAATATTCCATTGTGTGGATGTACCATGGTCTG | CGGTGGCCTCCAGACTTTTAGAGTATGCCATGTCCCATCAGTGCCCCAAGCTGGGCAAGACAGAAACCAGTCCCTCTGGTAGCTTCCCCAAAGGACAGAATGTTACGACTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTGTCTCTACTAAAAATACAAAATCAGACGGGCGTGGTGGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGTCAGAATATTAGATGCACACTCCACTCCCCTCAACCCTGGGAGAGGCCACTGGGCTGTATTGGCCTTTCTCTGCAGTTTCAGGGATCCTCTGGATCAGCAGCAGGCCACCCAGGCATTTAGAGTGTGCTAGATCCTTTCAAGTGCTTAGAGACAGAAACCAGTCCCCCAGAGAGCCCCAAAAAGCTAGAATGTTGGATGCATACTGCACCTGTTTCCCTCCCTAGGGAGAAGCTGGGAGGTGGGAGTTTTCTCCTGCTTGTTCTGCACTGAGCCAAGGATGAGTGATGAGGGAGTGAGTGCTTGCCAGTCTAAACTGTCACCTTTGTTCTCCATGGTTCTTTGTTCTCCCTCAACCTGCTGCCCTTTTCTGTTAGCACTTAGATTCAAACAAAACAGAAACCTGATCCCCCCAAAAGTCCGAACATTATACATACTTTTCAGTCTTCTCTTTCTGTCTCAGGTAGAAGCTAGGAGCTGGGGGTTATCTCATGATCATGCTTGAGCAGGGAGGGAAGAGACTATGGCAAATGAGTGCTACAAATTTTTCTGCTGGATTCGATGCAGCTGGTTTTGTGCTCACCTGGGGAGCAGGAGCCTCTTACTGGTTTCTGGATTTCTCACAGGGAATTGGTTTGTTTGTTGCTGTTGGCTCAGTGTCTCCATCGGGGAAGGAGGATCTGGGGTTTCCTACTCCACCATCTTCACCTCTTGCTGAGGTCACCACCTTGACATCATATCTTGATAAGTTGTCAACTTCTCTGGATTGGGAGCCTTTGGGGGATTAGGGATCATGCTGTCTCTGTGTGCTCAGGATTTGACACAGGTGAGTGAGTAGAGTATAAACCACACTGTAAGAATTTTAAGGGAGTGCAAAGGAAGGAAAAATTATTTCTGCTGGGATAGTTTCTGGAAAGGCACTGGTTAGGGACACATTTGCAGTTAGGACTGTGTTTTAATTCTAATTGCAGTTACTATTTGGATGATTTTGGGTGAGTTATTGAACCTTCCTGAGCCTCTGTTTCCTTGGCTATAAAGTGGGGACAATATCAGCATAATTTCTTTTCTTTTTTCAGGGGGATAGGGTCCGTTGCCCAGGCTGGAATGCAGTGGTACGATCACAGCTCACTGCAGCGTTGACCTTCCCAGGCTCAGATGATCTTCCCACTTCAGCCTCCTGAGTAGCTGGGACCACAGGCACCATGGTGGGACTACCCCACTATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTCTCGCTATGTTGCTCAGGCTGGTCTCGAACTCCTGAACTCAAGTAATCATGCTCGCGTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCACGCCTGGCCAGCAGTGTAATTTCCTCATGACTAAATGTGATTGAATGCATTCAGCACCTAGTAAGCATTGAGTAAATGATAGCGATGATAGTCGTCATTATTGTAAAGATGTTTGTGGTTTGTTCATTTCAGATGCTTGCTCTGTCAAGGCACAGCCTATTGTCTCCTTTGCTCAGTGTGACATCATTCAGACGCTTCTACAGAGGTGACAGCCCAACAGATTCCCAAAAGGACATGATTGAAATCCCTTTGCCTCCATGGCAGGAGAGAACTGATGAATCCATAGAAACCAAAGAGCCCGCCTGCTCTATGAGAGCAGAAAGAGGGGAATGTTGGAAAACTGCATTCTTCTTAGGTATGGGACTAGGAGTCTTTTTTTTTAAATCGGGCAGCTTCCTGAGCCAGAGTAGGTTCAGAGAGACTCCCAGGAGTAGGAGTCTTGGTGTCACTTCTCTTTTATTAGACACAGCCTTCTCAACCTCTTTTTCTTTTTTTCTTTCTTGTTTTTAGTCTTTTTGCTAAAGAACATCTGCAGCACATGACAGAAAAGCAGCTGAACCTCTATGACCGCCTGATTAACGAGCCTAGTAATGACTGGGATATTTACTACTGGGCCACAGGTACTGGGTATGATAAGCAGCATAATGTGAAAATAGGACAGTTTAGGCTGATTTGAGTCTAGAATTGTATCCTAGATAATTTTTTTCTTTCTTTTTTTTTTTTGAGACTGAGTTTCACTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTACCTTCCAGGTTCAAGCGATTCTCCAGCCTCAGCCTCCTGAGTACCTGGGATTACAGGCATGTGTCACCACACCCGGGTAATTTTATATTTTTAATAGAGACAGGGTTTCTCTGTGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAATCCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTTATAATTTTTTTCTTTTATTCATGAAGTAGACACTCAACCCAAACACTGTTCAAATTTTTGTTAAGTGTACAAAATTTATCAGTTAAAGTTCTTTATTTGCGAGACAGAGTGGAAACTTGTTTGTCTCACTTAAGCAAAAAGGAATTTAGTGGAAGGGTATATGAAGCTCACAGTATCAAAGGTTGAAGAAGAACCACTCTGGGAATGGAGTGGAATCAGACAACTAAGTCTGCATAGCCAAAGCTCCTCAATAGTTTCATTCTGGCCGGCCGCAGTGGCTCATGCCTCTAATCTGAGCACTTTGGGAGGCTGAGGCGGATGGATCGCTTGAGGTTAGGAGCTTGAGAGCAGCCTGGCCAACACAGCGAAACCTCATCTCTCCAAAAATTCAAAAATTAGCCGAACATGGTGGCGGACAACTGCAGTCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAGCCTGGGAGACAGAGATTGCAGTGAGCTGAGATTGCACCACTGCACTCCATCCTGGGCAAAAGAGTGAGACTATGTCTCAAAAAAAAAAAAGTTTCATTCAGGCACTACCTTTATGAGGAATGAATTCTAACTGTGTATAGTTAGGATTAACTTTGGCTATGAGTAAAAAAACATCCAAAACAGTAATGGCTTAAACAAGGTAGAACTGTCTTTCTCATGACAGAAGTCCAGAGGAAGGCACACTCCAGAGCTCATAGAGGGGCTTCAAAAAGTCATGGGTCCAGGTCCCCCCTACTTGCTGCTCTTTCATCCTAGCATGTGTTTTCTACTTCTTGATCCAGGACAGCCATATTTCAGCCCGGAAAAAGTGTGTGGAAGTGCATACCCCTCCTTTGTAGATCCCGCTCAGGAAATTATCCAGCATACTTCCACTTATTTGCCATTGGCCACAGCTTAGTTACTTGGCTACGTCTAACCATAAGGAAAAATAATATAGTCTATTCCATCTGCCCAGCTGTGTTGGAGATTCTGTTATCGATGAAAACTGGATATTAGGGGACGTGTCATTCATTCTGCCACACTCCGGGACTGCTGTTTTTGTGTCTCCACTCAATATTTGTATCAGAAAGTAGCAGCCATTGTCTATGGGTTCCAGGTATGAAGAGTGATAAGACAGAGTCTGGAGCCTTATACAATCACTGGAAAGCCAACAAAGTCCAAATATTTACTCTCCAACCCTTTACAGAACAAGTTTGCCCTGACTTAGCATAATGCATTTGAGATGCGTATCCTTGTTGTTACTTGTATCAATAGTTCATTCTTTTGTGTTGAGTAATATTCCATTGTGTGGATGTACCATGGTCTGN | pathogenic | 176,587 |
A mutation at chromosome position 61437814 on chromosome 11 in gene SDHAF2 (succinate dehydrogenase complex assembly factor 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_2'] | GTCCCATCAGTGCCCCAAGCTGGGCAAGACAGAAACCAGTCCCTCTGGTAGCTTCCCCAAAGGACAGAATGTTACGACTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTGTCTCTACTAAAAATACAAAATCAGACGGGCGTGGTGGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGTCAGAATATTAGATGCACACTCCACTCCCCTCAACCCTGGGAGAGGCCACTGGGCTGTATTGGCCTTTCTCTGCAGTTTCAGGGATCCTCTGGATCAGCAGCAGGCCACCCAGGCATTTAGAGTGTGCTAGATCCTTTCAAGTGCTTAGAGACAGAAACCAGTCCCCCAGAGAGCCCCAAAAAGCTAGAATGTTGGATGCATACTGCACCTGTTTCCCTCCCTAGGGAGAAGCTGGGAGGTGGGAGTTTTCTCCTGCTTGTTCTGCACTGAGCCAAGGATGAGTGATGAGGGAGTGAGTGCTTGCCAGTCTAAACTGTCACCTTTGTTCTCCATGGTTCTTTGTTCTCCCTCAACCTGCTGCCCTTTTCTGTTAGCACTTAGATTCAAACAAAACAGAAACCTGATCCCCCCAAAAGTCCGAACATTATACATACTTTTCAGTCTTCTCTTTCTGTCTCAGGTAGAAGCTAGGAGCTGGGGGTTATCTCATGATCATGCTTGAGCAGGGAGGGAAGAGACTATGGCAAATGAGTGCTACAAATTTTTCTGCTGGATTCGATGCAGCTGGTTTTGTGCTCACCTGGGGAGCAGGAGCCTCTTACTGGTTTCTGGATTTCTCACAGGGAATTGGTTTGTTTGTTGCTGTTGGCTCAGTGTCTCCATCGGGGAAGGAGGATCTGGGGTTTCCTACTCCACCATCTTCACCTCTTGCTGAGGTCACCACCTTGACATCATATCTTGATAAGTTGTCAACTTCTCTGGATTGGGAGCCTTTGGGGGATTAGGGATCATGCTGTCTCTGTGTGCTCAGGATTTGACACAGGTGAGTGAGTAGAGTATAAACCACACTGTAAGAATTTTAAGGGAGTGCAAAGGAAGGAAAAATTATTTCTGCTGGGATAGTTTCTGGAAAGGCACTGGTTAGGGACACATTTGCAGTTAGGACTGTGTTTTAATTCTAATTGCAGTTACTATTTGGATGATTTTGGGTGAGTTATTGAACCTTCCTGAGCCTCTGTTTCCTTGGCTATAAAGTGGGGACAATATCAGCATAATTTCTTTTCTTTTTTCAGGGGGATAGGGTCCGTTGCCCAGGCTGGAATGCAGTGGTACGATCACAGCTCACTGCAGCGTTGACCTTCCCAGGCTCAGATGATCTTCCCACTTCAGCCTCCTGAGTAGCTGGGACCACAGGCACCATGGTGGGACTACCCCACTATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTCTCGCTATGTTGCTCAGGCTGGTCTCGAACTCCTGAACTCAAGTAATCATGCTCGCGTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCACGCCTGGCCAGCAGTGTAATTTCCTCATGACTAAATGTGATTGAATGCATTCAGCACCTAGTAAGCATTGAGTAAATGATAGCGATGATAGTCGTCATTATTGTAAAGATGTTTGTGGTTTGTTCATTTCAGATGCTTGCTCTGTCAAGGCACAGCCTATTGTCTCCTTTGCTCAGTGTGACATCATTCAGACGCTTCTACAGAGGTGACAGCCCAACAGATTCCCAAAAGGACATGATTGAAATCCCTTTGCCTCCATGGCAGGAGAGAACTGATGAATCCATAGAAACCAAAAGAGCCCGCCTGCTCTATGAGAGCAGAAAGAGGGGAATGTTGGAAAACTGCATTCTTCTTAGGTATGGGACTAGGAGTCTTTTTTTTTAAATCGGGCAGCTTCCTGAGCCAGAGTAGGTTCAGAGAGACTCCCAGGAGTAGGAGTCTTGGTGTCACTTCTCTTTTATTAGACACAGCCTTCTCAACCTCTTTTTCTTTTTTTCTTTCTTGTTTTTAGTCTTTTTGCTAAAGAACATCTGCAGCACATGACAGAAAAGCAGCTGAACCTCTATGACCGCCTGATTAACGAGCCTAGTAATGACTGGGATATTTACTACTGGGCCACAGGTACTGGGTATGATAAGCAGCATAATGTGAAAATAGGACAGTTTAGGCTGATTTGAGTCTAGAATTGTATCCTAGATAATTTTTTTCTTTCTTTTTTTTTTTTGAGACTGAGTTTCACTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTACCTTCCAGGTTCAAGCGATTCTCCAGCCTCAGCCTCCTGAGTACCTGGGATTACAGGCATGTGTCACCACACCCGGGTAATTTTATATTTTTAATAGAGACAGGGTTTCTCTGTGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAATCCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTTATAATTTTTTTCTTTTATTCATGAAGTAGACACTCAACCCAAACACTGTTCAAATTTTTGTTAAGTGTACAAAATTTATCAGTTAAAGTTCTTTATTTGCGAGACAGAGTGGAAACTTGTTTGTCTCACTTAAGCAAAAAGGAATTTAGTGGAAGGGTATATGAAGCTCACAGTATCAAAGGTTGAAGAAGAACCACTCTGGGAATGGAGTGGAATCAGACAACTAAGTCTGCATAGCCAAAGCTCCTCAATAGTTTCATTCTGGCCGGCCGCAGTGGCTCATGCCTCTAATCTGAGCACTTTGGGAGGCTGAGGCGGATGGATCGCTTGAGGTTAGGAGCTTGAGAGCAGCCTGGCCAACACAGCGAAACCTCATCTCTCCAAAAATTCAAAAATTAGCCGAACATGGTGGCGGACAACTGCAGTCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAGCCTGGGAGACAGAGATTGCAGTGAGCTGAGATTGCACCACTGCACTCCATCCTGGGCAAAAGAGTGAGACTATGTCTCAAAAAAAAAAAAGTTTCATTCAGGCACTACCTTTATGAGGAATGAATTCTAACTGTGTATAGTTAGGATTAACTTTGGCTATGAGTAAAAAAACATCCAAAACAGTAATGGCTTAAACAAGGTAGAACTGTCTTTCTCATGACAGAAGTCCAGAGGAAGGCACACTCCAGAGCTCATAGAGGGGCTTCAAAAAGTCATGGGTCCAGGTCCCCCCTACTTGCTGCTCTTTCATCCTAGCATGTGTTTTCTACTTCTTGATCCAGGACAGCCATATTTCAGCCCGGAAAAAGTGTGTGGAAGTGCATACCCCTCCTTTGTAGATCCCGCTCAGGAAATTATCCAGCATACTTCCACTTATTTGCCATTGGCCACAGCTTAGTTACTTGGCTACGTCTAACCATAAGGAAAAATAATATAGTCTATTCCATCTGCCCAGCTGTGTTGGAGATTCTGTTATCGATGAAAACTGGATATTAGGGGACGTGTCATTCATTCTGCCACACTCCGGGACTGCTGTTTTTGTGTCTCCACTCAATATTTGTATCAGAAAGTAGCAGCCATTGTCTATGGGTTCCAGGTATGAAGAGTGATAAGACAGAGTCTGGAGCCTTATACAATCACTGGAAAGCCAACAAAGTCCAAATATTTACTCTCCAACCCTTTACAGAACAAGTTTGCCCTGACTTAGCATAATGCATTTGAGATGCGTATCCTTGTTGTTACTTGTATCAATAGTTCATTCTTTTGTGTTGAGTAATATTCCATTGTGTGGATGTACCATGGTCTGTTCATCTTTTGACCAGCTGAGGGACATTAGG | GTCCCATCAGTGCCCCAAGCTGGGCAAGACAGAAACCAGTCCCTCTGGTAGCTTCCCCAAAGGACAGAATGTTACGACTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTGTCTCTACTAAAAATACAAAATCAGACGGGCGTGGTGGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGTCAGAATATTAGATGCACACTCCACTCCCCTCAACCCTGGGAGAGGCCACTGGGCTGTATTGGCCTTTCTCTGCAGTTTCAGGGATCCTCTGGATCAGCAGCAGGCCACCCAGGCATTTAGAGTGTGCTAGATCCTTTCAAGTGCTTAGAGACAGAAACCAGTCCCCCAGAGAGCCCCAAAAAGCTAGAATGTTGGATGCATACTGCACCTGTTTCCCTCCCTAGGGAGAAGCTGGGAGGTGGGAGTTTTCTCCTGCTTGTTCTGCACTGAGCCAAGGATGAGTGATGAGGGAGTGAGTGCTTGCCAGTCTAAACTGTCACCTTTGTTCTCCATGGTTCTTTGTTCTCCCTCAACCTGCTGCCCTTTTCTGTTAGCACTTAGATTCAAACAAAACAGAAACCTGATCCCCCCAAAAGTCCGAACATTATACATACTTTTCAGTCTTCTCTTTCTGTCTCAGGTAGAAGCTAGGAGCTGGGGGTTATCTCATGATCATGCTTGAGCAGGGAGGGAAGAGACTATGGCAAATGAGTGCTACAAATTTTTCTGCTGGATTCGATGCAGCTGGTTTTGTGCTCACCTGGGGAGCAGGAGCCTCTTACTGGTTTCTGGATTTCTCACAGGGAATTGGTTTGTTTGTTGCTGTTGGCTCAGTGTCTCCATCGGGGAAGGAGGATCTGGGGTTTCCTACTCCACCATCTTCACCTCTTGCTGAGGTCACCACCTTGACATCATATCTTGATAAGTTGTCAACTTCTCTGGATTGGGAGCCTTTGGGGGATTAGGGATCATGCTGTCTCTGTGTGCTCAGGATTTGACACAGGTGAGTGAGTAGAGTATAAACCACACTGTAAGAATTTTAAGGGAGTGCAAAGGAAGGAAAAATTATTTCTGCTGGGATAGTTTCTGGAAAGGCACTGGTTAGGGACACATTTGCAGTTAGGACTGTGTTTTAATTCTAATTGCAGTTACTATTTGGATGATTTTGGGTGAGTTATTGAACCTTCCTGAGCCTCTGTTTCCTTGGCTATAAAGTGGGGACAATATCAGCATAATTTCTTTTCTTTTTTCAGGGGGATAGGGTCCGTTGCCCAGGCTGGAATGCAGTGGTACGATCACAGCTCACTGCAGCGTTGACCTTCCCAGGCTCAGATGATCTTCCCACTTCAGCCTCCTGAGTAGCTGGGACCACAGGCACCATGGTGGGACTACCCCACTATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTCTCGCTATGTTGCTCAGGCTGGTCTCGAACTCCTGAACTCAAGTAATCATGCTCGCGTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCACGCCTGGCCAGCAGTGTAATTTCCTCATGACTAAATGTGATTGAATGCATTCAGCACCTAGTAAGCATTGAGTAAATGATAGCGATGATAGTCGTCATTATTGTAAAGATGTTTGTGGTTTGTTCATTTCAGATGCTTGCTCTGTCAAGGCACAGCCTATTGTCTCCTTTGCTCAGTGTGACATCATTCAGACGCTTCTACAGAGGTGACAGCCCAACAGATTCCCAAAAGGACATGATTGAAATCCCTTTGCCTCCATGGCAGGAGAGAACTGATGAATCCATAGAAACCAAAAGAGCCCGCCTGCTCTATGAGAGCAGAAAGGGGAATGTTGGAAAACTGCATTCTTCTTAGGTATGGGACTAGGAGTCTTTTTTTTTAAATCGGGCAGCTTCCTGAGCCAGAGTAGGTTCAGAGAGACTCCCAGGAGTAGGAGTCTTGGTGTCACTTCTCTTTTATTAGACACAGCCTTCTCAACCTCTTTTTCTTTTTTTCTTTCTTGTTTTTAGTCTTTTTGCTAAAGAACATCTGCAGCACATGACAGAAAAGCAGCTGAACCTCTATGACCGCCTGATTAACGAGCCTAGTAATGACTGGGATATTTACTACTGGGCCACAGGTACTGGGTATGATAAGCAGCATAATGTGAAAATAGGACAGTTTAGGCTGATTTGAGTCTAGAATTGTATCCTAGATAATTTTTTTCTTTCTTTTTTTTTTTTGAGACTGAGTTTCACTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTACCTTCCAGGTTCAAGCGATTCTCCAGCCTCAGCCTCCTGAGTACCTGGGATTACAGGCATGTGTCACCACACCCGGGTAATTTTATATTTTTAATAGAGACAGGGTTTCTCTGTGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAATCCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTTATAATTTTTTTCTTTTATTCATGAAGTAGACACTCAACCCAAACACTGTTCAAATTTTTGTTAAGTGTACAAAATTTATCAGTTAAAGTTCTTTATTTGCGAGACAGAGTGGAAACTTGTTTGTCTCACTTAAGCAAAAAGGAATTTAGTGGAAGGGTATATGAAGCTCACAGTATCAAAGGTTGAAGAAGAACCACTCTGGGAATGGAGTGGAATCAGACAACTAAGTCTGCATAGCCAAAGCTCCTCAATAGTTTCATTCTGGCCGGCCGCAGTGGCTCATGCCTCTAATCTGAGCACTTTGGGAGGCTGAGGCGGATGGATCGCTTGAGGTTAGGAGCTTGAGAGCAGCCTGGCCAACACAGCGAAACCTCATCTCTCCAAAAATTCAAAAATTAGCCGAACATGGTGGCGGACAACTGCAGTCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAGCCTGGGAGACAGAGATTGCAGTGAGCTGAGATTGCACCACTGCACTCCATCCTGGGCAAAAGAGTGAGACTATGTCTCAAAAAAAAAAAAGTTTCATTCAGGCACTACCTTTATGAGGAATGAATTCTAACTGTGTATAGTTAGGATTAACTTTGGCTATGAGTAAAAAAACATCCAAAACAGTAATGGCTTAAACAAGGTAGAACTGTCTTTCTCATGACAGAAGTCCAGAGGAAGGCACACTCCAGAGCTCATAGAGGGGCTTCAAAAAGTCATGGGTCCAGGTCCCCCCTACTTGCTGCTCTTTCATCCTAGCATGTGTTTTCTACTTCTTGATCCAGGACAGCCATATTTCAGCCCGGAAAAAGTGTGTGGAAGTGCATACCCCTCCTTTGTAGATCCCGCTCAGGAAATTATCCAGCATACTTCCACTTATTTGCCATTGGCCACAGCTTAGTTACTTGGCTACGTCTAACCATAAGGAAAAATAATATAGTCTATTCCATCTGCCCAGCTGTGTTGGAGATTCTGTTATCGATGAAAACTGGATATTAGGGGACGTGTCATTCATTCTGCCACACTCCGGGACTGCTGTTTTTGTGTCTCCACTCAATATTTGTATCAGAAAGTAGCAGCCATTGTCTATGGGTTCCAGGTATGAAGAGTGATAAGACAGAGTCTGGAGCCTTATACAATCACTGGAAAGCCAACAAAGTCCAAATATTTACTCTCCAACCCTTTACAGAACAAGTTTGCCCTGACTTAGCATAATGCATTTGAGATGCGTATCCTTGTTGTTACTTGTATCAATAGTTCATTCTTTTGTGTTGAGTAATATTCCATTGTGTGGATGTACCATGGTCTGTTCATCTTTTGACCAGCTGAGGGACATTAGGNN | pathogenic | 176,591 |
Considering the variant on chromosome 11, location 61438005, involving gene SDHAF2 (succinate dehydrogenase complex assembly factor 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_2'] | TACTAAAAATACAAAATCAGACGGGCGTGGTGGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGTCAGAATATTAGATGCACACTCCACTCCCCTCAACCCTGGGAGAGGCCACTGGGCTGTATTGGCCTTTCTCTGCAGTTTCAGGGATCCTCTGGATCAGCAGCAGGCCACCCAGGCATTTAGAGTGTGCTAGATCCTTTCAAGTGCTTAGAGACAGAAACCAGTCCCCCAGAGAGCCCCAAAAAGCTAGAATGTTGGATGCATACTGCACCTGTTTCCCTCCCTAGGGAGAAGCTGGGAGGTGGGAGTTTTCTCCTGCTTGTTCTGCACTGAGCCAAGGATGAGTGATGAGGGAGTGAGTGCTTGCCAGTCTAAACTGTCACCTTTGTTCTCCATGGTTCTTTGTTCTCCCTCAACCTGCTGCCCTTTTCTGTTAGCACTTAGATTCAAACAAAACAGAAACCTGATCCCCCCAAAAGTCCGAACATTATACATACTTTTCAGTCTTCTCTTTCTGTCTCAGGTAGAAGCTAGGAGCTGGGGGTTATCTCATGATCATGCTTGAGCAGGGAGGGAAGAGACTATGGCAAATGAGTGCTACAAATTTTTCTGCTGGATTCGATGCAGCTGGTTTTGTGCTCACCTGGGGAGCAGGAGCCTCTTACTGGTTTCTGGATTTCTCACAGGGAATTGGTTTGTTTGTTGCTGTTGGCTCAGTGTCTCCATCGGGGAAGGAGGATCTGGGGTTTCCTACTCCACCATCTTCACCTCTTGCTGAGGTCACCACCTTGACATCATATCTTGATAAGTTGTCAACTTCTCTGGATTGGGAGCCTTTGGGGGATTAGGGATCATGCTGTCTCTGTGTGCTCAGGATTTGACACAGGTGAGTGAGTAGAGTATAAACCACACTGTAAGAATTTTAAGGGAGTGCAAAGGAAGGAAAAATTATTTCTGCTGGGATAGTTTCTGGAAAGGCACTGGTTAGGGACACATTTGCAGTTAGGACTGTGTTTTAATTCTAATTGCAGTTACTATTTGGATGATTTTGGGTGAGTTATTGAACCTTCCTGAGCCTCTGTTTCCTTGGCTATAAAGTGGGGACAATATCAGCATAATTTCTTTTCTTTTTTCAGGGGGATAGGGTCCGTTGCCCAGGCTGGAATGCAGTGGTACGATCACAGCTCACTGCAGCGTTGACCTTCCCAGGCTCAGATGATCTTCCCACTTCAGCCTCCTGAGTAGCTGGGACCACAGGCACCATGGTGGGACTACCCCACTATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTCTCGCTATGTTGCTCAGGCTGGTCTCGAACTCCTGAACTCAAGTAATCATGCTCGCGTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCACGCCTGGCCAGCAGTGTAATTTCCTCATGACTAAATGTGATTGAATGCATTCAGCACCTAGTAAGCATTGAGTAAATGATAGCGATGATAGTCGTCATTATTGTAAAGATGTTTGTGGTTTGTTCATTTCAGATGCTTGCTCTGTCAAGGCACAGCCTATTGTCTCCTTTGCTCAGTGTGACATCATTCAGACGCTTCTACAGAGGTGACAGCCCAACAGATTCCCAAAAGGACATGATTGAAATCCCTTTGCCTCCATGGCAGGAGAGAACTGATGAATCCATAGAAACCAAAAGAGCCCGCCTGCTCTATGAGAGCAGAAAGAGGGGAATGTTGGAAAACTGCATTCTTCTTAGGTATGGGACTAGGAGTCTTTTTTTTTAAATCGGGCAGCTTCCTGAGCCAGAGTAGGTTCAGAGAGACTCCCAGGAGTAGGAGTCTTGGTGTCACTTCTCTTTTATTAGACACAGCCTTCTCAACCTCTTTTTCTTTTTTTCTTTCTTGTTTTTAGTCTTTTTGCTAAAGAACATCTGCAGCACATGACAGAAAAGCAGCTGAACCTCTATGACCGCCTGATTAACGAGCCTAGTAATGACTGGGATATTTACTACTGGGCCACAGGTACTGGGTATGATAAGCAGCATAATGTGAAAATAGGACAGTTTAGGCTGATTTGAGTCTAGAATTGTATCCTAGATAATTTTTTTCTTTCTTTTTTTTTTTTGAGACTGAGTTTCACTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTACCTTCCAGGTTCAAGCGATTCTCCAGCCTCAGCCTCCTGAGTACCTGGGATTACAGGCATGTGTCACCACACCCGGGTAATTTTATATTTTTAATAGAGACAGGGTTTCTCTGTGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAATCCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTTATAATTTTTTTCTTTTATTCATGAAGTAGACACTCAACCCAAACACTGTTCAAATTTTTGTTAAGTGTACAAAATTTATCAGTTAAAGTTCTTTATTTGCGAGACAGAGTGGAAACTTGTTTGTCTCACTTAAGCAAAAAGGAATTTAGTGGAAGGGTATATGAAGCTCACAGTATCAAAGGTTGAAGAAGAACCACTCTGGGAATGGAGTGGAATCAGACAACTAAGTCTGCATAGCCAAAGCTCCTCAATAGTTTCATTCTGGCCGGCCGCAGTGGCTCATGCCTCTAATCTGAGCACTTTGGGAGGCTGAGGCGGATGGATCGCTTGAGGTTAGGAGCTTGAGAGCAGCCTGGCCAACACAGCGAAACCTCATCTCTCCAAAAATTCAAAAATTAGCCGAACATGGTGGCGGACAACTGCAGTCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAGCCTGGGAGACAGAGATTGCAGTGAGCTGAGATTGCACCACTGCACTCCATCCTGGGCAAAAGAGTGAGACTATGTCTCAAAAAAAAAAAAGTTTCATTCAGGCACTACCTTTATGAGGAATGAATTCTAACTGTGTATAGTTAGGATTAACTTTGGCTATGAGTAAAAAAACATCCAAAACAGTAATGGCTTAAACAAGGTAGAACTGTCTTTCTCATGACAGAAGTCCAGAGGAAGGCACACTCCAGAGCTCATAGAGGGGCTTCAAAAAGTCATGGGTCCAGGTCCCCCCTACTTGCTGCTCTTTCATCCTAGCATGTGTTTTCTACTTCTTGATCCAGGACAGCCATATTTCAGCCCGGAAAAAGTGTGTGGAAGTGCATACCCCTCCTTTGTAGATCCCGCTCAGGAAATTATCCAGCATACTTCCACTTATTTGCCATTGGCCACAGCTTAGTTACTTGGCTACGTCTAACCATAAGGAAAAATAATATAGTCTATTCCATCTGCCCAGCTGTGTTGGAGATTCTGTTATCGATGAAAACTGGATATTAGGGGACGTGTCATTCATTCTGCCACACTCCGGGACTGCTGTTTTTGTGTCTCCACTCAATATTTGTATCAGAAAGTAGCAGCCATTGTCTATGGGTTCCAGGTATGAAGAGTGATAAGACAGAGTCTGGAGCCTTATACAATCACTGGAAAGCCAACAAAGTCCAAATATTTACTCTCCAACCCTTTACAGAACAAGTTTGCCCTGACTTAGCATAATGCATTTGAGATGCGTATCCTTGTTGTTACTTGTATCAATAGTTCATTCTTTTGTGTTGAGTAATATTCCATTGTGTGGATGTACCATGGTCTGTTCATCTTTTGACCAGCTGAGGGACATTAGGATTATTTCCAGCTTTAGGTGATTATAAATGAAGCCACTGTAAACATTTGCATACAGATTTTGTGAACATAGGTTTTAGTTTTTCTTGAGTGAATACTCAGGAGAAGGATTTGCTGGGTCATGTGGTAAGTGTATATGTTTAACTTTATAATAGGGCCAGGTGTGGTAGCTCATGCCTGTAATTTCAGCATG | TACTAAAAATACAAAATCAGACGGGCGTGGTGGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGTCAGAATATTAGATGCACACTCCACTCCCCTCAACCCTGGGAGAGGCCACTGGGCTGTATTGGCCTTTCTCTGCAGTTTCAGGGATCCTCTGGATCAGCAGCAGGCCACCCAGGCATTTAGAGTGTGCTAGATCCTTTCAAGTGCTTAGAGACAGAAACCAGTCCCCCAGAGAGCCCCAAAAAGCTAGAATGTTGGATGCATACTGCACCTGTTTCCCTCCCTAGGGAGAAGCTGGGAGGTGGGAGTTTTCTCCTGCTTGTTCTGCACTGAGCCAAGGATGAGTGATGAGGGAGTGAGTGCTTGCCAGTCTAAACTGTCACCTTTGTTCTCCATGGTTCTTTGTTCTCCCTCAACCTGCTGCCCTTTTCTGTTAGCACTTAGATTCAAACAAAACAGAAACCTGATCCCCCCAAAAGTCCGAACATTATACATACTTTTCAGTCTTCTCTTTCTGTCTCAGGTAGAAGCTAGGAGCTGGGGGTTATCTCATGATCATGCTTGAGCAGGGAGGGAAGAGACTATGGCAAATGAGTGCTACAAATTTTTCTGCTGGATTCGATGCAGCTGGTTTTGTGCTCACCTGGGGAGCAGGAGCCTCTTACTGGTTTCTGGATTTCTCACAGGGAATTGGTTTGTTTGTTGCTGTTGGCTCAGTGTCTCCATCGGGGAAGGAGGATCTGGGGTTTCCTACTCCACCATCTTCACCTCTTGCTGAGGTCACCACCTTGACATCATATCTTGATAAGTTGTCAACTTCTCTGGATTGGGAGCCTTTGGGGGATTAGGGATCATGCTGTCTCTGTGTGCTCAGGATTTGACACAGGTGAGTGAGTAGAGTATAAACCACACTGTAAGAATTTTAAGGGAGTGCAAAGGAAGGAAAAATTATTTCTGCTGGGATAGTTTCTGGAAAGGCACTGGTTAGGGACACATTTGCAGTTAGGACTGTGTTTTAATTCTAATTGCAGTTACTATTTGGATGATTTTGGGTGAGTTATTGAACCTTCCTGAGCCTCTGTTTCCTTGGCTATAAAGTGGGGACAATATCAGCATAATTTCTTTTCTTTTTTCAGGGGGATAGGGTCCGTTGCCCAGGCTGGAATGCAGTGGTACGATCACAGCTCACTGCAGCGTTGACCTTCCCAGGCTCAGATGATCTTCCCACTTCAGCCTCCTGAGTAGCTGGGACCACAGGCACCATGGTGGGACTACCCCACTATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTCTCGCTATGTTGCTCAGGCTGGTCTCGAACTCCTGAACTCAAGTAATCATGCTCGCGTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCACGCCTGGCCAGCAGTGTAATTTCCTCATGACTAAATGTGATTGAATGCATTCAGCACCTAGTAAGCATTGAGTAAATGATAGCGATGATAGTCGTCATTATTGTAAAGATGTTTGTGGTTTGTTCATTTCAGATGCTTGCTCTGTCAAGGCACAGCCTATTGTCTCCTTTGCTCAGTGTGACATCATTCAGACGCTTCTACAGAGGTGACAGCCCAACAGATTCCCAAAAGGACATGATTGAAATCCCTTTGCCTCCATGGCAGGAGAGAACTGATGAATCCATAGAAACCAAAAGAGCCCGCCTGCTCTATGAGAGCAGAAAGAGGGGAATGTTGGAAAACTGCATTCTTCTTAGGTATGGGACTAGGAGTCTTTTTTTTTAAATCGGGCAGCTTCCTGAGCCAGAGTAGGTTCAGAGAGACTCCCAGGAGTAGGAGTCTTGGTGTCACTTCTCTTTTATTAGACACAGCCTTCTCAACCTCTTTTTCTTTTTTTCTTTCTTGTTTTTAGTCTTTTGCTAAAGAACATCTGCAGCACATGACAGAAAAGCAGCTGAACCTCTATGACCGCCTGATTAACGAGCCTAGTAATGACTGGGATATTTACTACTGGGCCACAGGTACTGGGTATGATAAGCAGCATAATGTGAAAATAGGACAGTTTAGGCTGATTTGAGTCTAGAATTGTATCCTAGATAATTTTTTTCTTTCTTTTTTTTTTTTGAGACTGAGTTTCACTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTACCTTCCAGGTTCAAGCGATTCTCCAGCCTCAGCCTCCTGAGTACCTGGGATTACAGGCATGTGTCACCACACCCGGGTAATTTTATATTTTTAATAGAGACAGGGTTTCTCTGTGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAATCCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTTATAATTTTTTTCTTTTATTCATGAAGTAGACACTCAACCCAAACACTGTTCAAATTTTTGTTAAGTGTACAAAATTTATCAGTTAAAGTTCTTTATTTGCGAGACAGAGTGGAAACTTGTTTGTCTCACTTAAGCAAAAAGGAATTTAGTGGAAGGGTATATGAAGCTCACAGTATCAAAGGTTGAAGAAGAACCACTCTGGGAATGGAGTGGAATCAGACAACTAAGTCTGCATAGCCAAAGCTCCTCAATAGTTTCATTCTGGCCGGCCGCAGTGGCTCATGCCTCTAATCTGAGCACTTTGGGAGGCTGAGGCGGATGGATCGCTTGAGGTTAGGAGCTTGAGAGCAGCCTGGCCAACACAGCGAAACCTCATCTCTCCAAAAATTCAAAAATTAGCCGAACATGGTGGCGGACAACTGCAGTCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAGCCTGGGAGACAGAGATTGCAGTGAGCTGAGATTGCACCACTGCACTCCATCCTGGGCAAAAGAGTGAGACTATGTCTCAAAAAAAAAAAAGTTTCATTCAGGCACTACCTTTATGAGGAATGAATTCTAACTGTGTATAGTTAGGATTAACTTTGGCTATGAGTAAAAAAACATCCAAAACAGTAATGGCTTAAACAAGGTAGAACTGTCTTTCTCATGACAGAAGTCCAGAGGAAGGCACACTCCAGAGCTCATAGAGGGGCTTCAAAAAGTCATGGGTCCAGGTCCCCCCTACTTGCTGCTCTTTCATCCTAGCATGTGTTTTCTACTTCTTGATCCAGGACAGCCATATTTCAGCCCGGAAAAAGTGTGTGGAAGTGCATACCCCTCCTTTGTAGATCCCGCTCAGGAAATTATCCAGCATACTTCCACTTATTTGCCATTGGCCACAGCTTAGTTACTTGGCTACGTCTAACCATAAGGAAAAATAATATAGTCTATTCCATCTGCCCAGCTGTGTTGGAGATTCTGTTATCGATGAAAACTGGATATTAGGGGACGTGTCATTCATTCTGCCACACTCCGGGACTGCTGTTTTTGTGTCTCCACTCAATATTTGTATCAGAAAGTAGCAGCCATTGTCTATGGGTTCCAGGTATGAAGAGTGATAAGACAGAGTCTGGAGCCTTATACAATCACTGGAAAGCCAACAAAGTCCAAATATTTACTCTCCAACCCTTTACAGAACAAGTTTGCCCTGACTTAGCATAATGCATTTGAGATGCGTATCCTTGTTGTTACTTGTATCAATAGTTCATTCTTTTGTGTTGAGTAATATTCCATTGTGTGGATGTACCATGGTCTGTTCATCTTTTGACCAGCTGAGGGACATTAGGATTATTTCCAGCTTTAGGTGATTATAAATGAAGCCACTGTAAACATTTGCATACAGATTTTGTGAACATAGGTTTTAGTTTTTCTTGAGTGAATACTCAGGAGAAGGATTTGCTGGGTCATGTGGTAAGTGTATATGTTTAACTTTATAATAGGGCCAGGTGTGGTAGCTCATGCCTGTAATTTCAGCATGN | pathogenic | 176,599 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 61438036, gene SDHAF2 (succinate dehydrogenase complex assembly factor 2): what disease(s) if pathogenic? | pathogenic; ['Hereditary_pheochromocytoma-paraganglioma'] | GGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGTCAGAATATTAGATGCACACTCCACTCCCCTCAACCCTGGGAGAGGCCACTGGGCTGTATTGGCCTTTCTCTGCAGTTTCAGGGATCCTCTGGATCAGCAGCAGGCCACCCAGGCATTTAGAGTGTGCTAGATCCTTTCAAGTGCTTAGAGACAGAAACCAGTCCCCCAGAGAGCCCCAAAAAGCTAGAATGTTGGATGCATACTGCACCTGTTTCCCTCCCTAGGGAGAAGCTGGGAGGTGGGAGTTTTCTCCTGCTTGTTCTGCACTGAGCCAAGGATGAGTGATGAGGGAGTGAGTGCTTGCCAGTCTAAACTGTCACCTTTGTTCTCCATGGTTCTTTGTTCTCCCTCAACCTGCTGCCCTTTTCTGTTAGCACTTAGATTCAAACAAAACAGAAACCTGATCCCCCCAAAAGTCCGAACATTATACATACTTTTCAGTCTTCTCTTTCTGTCTCAGGTAGAAGCTAGGAGCTGGGGGTTATCTCATGATCATGCTTGAGCAGGGAGGGAAGAGACTATGGCAAATGAGTGCTACAAATTTTTCTGCTGGATTCGATGCAGCTGGTTTTGTGCTCACCTGGGGAGCAGGAGCCTCTTACTGGTTTCTGGATTTCTCACAGGGAATTGGTTTGTTTGTTGCTGTTGGCTCAGTGTCTCCATCGGGGAAGGAGGATCTGGGGTTTCCTACTCCACCATCTTCACCTCTTGCTGAGGTCACCACCTTGACATCATATCTTGATAAGTTGTCAACTTCTCTGGATTGGGAGCCTTTGGGGGATTAGGGATCATGCTGTCTCTGTGTGCTCAGGATTTGACACAGGTGAGTGAGTAGAGTATAAACCACACTGTAAGAATTTTAAGGGAGTGCAAAGGAAGGAAAAATTATTTCTGCTGGGATAGTTTCTGGAAAGGCACTGGTTAGGGACACATTTGCAGTTAGGACTGTGTTTTAATTCTAATTGCAGTTACTATTTGGATGATTTTGGGTGAGTTATTGAACCTTCCTGAGCCTCTGTTTCCTTGGCTATAAAGTGGGGACAATATCAGCATAATTTCTTTTCTTTTTTCAGGGGGATAGGGTCCGTTGCCCAGGCTGGAATGCAGTGGTACGATCACAGCTCACTGCAGCGTTGACCTTCCCAGGCTCAGATGATCTTCCCACTTCAGCCTCCTGAGTAGCTGGGACCACAGGCACCATGGTGGGACTACCCCACTATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTCTCGCTATGTTGCTCAGGCTGGTCTCGAACTCCTGAACTCAAGTAATCATGCTCGCGTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCACGCCTGGCCAGCAGTGTAATTTCCTCATGACTAAATGTGATTGAATGCATTCAGCACCTAGTAAGCATTGAGTAAATGATAGCGATGATAGTCGTCATTATTGTAAAGATGTTTGTGGTTTGTTCATTTCAGATGCTTGCTCTGTCAAGGCACAGCCTATTGTCTCCTTTGCTCAGTGTGACATCATTCAGACGCTTCTACAGAGGTGACAGCCCAACAGATTCCCAAAAGGACATGATTGAAATCCCTTTGCCTCCATGGCAGGAGAGAACTGATGAATCCATAGAAACCAAAAGAGCCCGCCTGCTCTATGAGAGCAGAAAGAGGGGAATGTTGGAAAACTGCATTCTTCTTAGGTATGGGACTAGGAGTCTTTTTTTTTAAATCGGGCAGCTTCCTGAGCCAGAGTAGGTTCAGAGAGACTCCCAGGAGTAGGAGTCTTGGTGTCACTTCTCTTTTATTAGACACAGCCTTCTCAACCTCTTTTTCTTTTTTTCTTTCTTGTTTTTAGTCTTTTTGCTAAAGAACATCTGCAGCACATGACAGAAAAGCAGCTGAACCTCTATGACCGCCTGATTAACGAGCCTAGTAATGACTGGGATATTTACTACTGGGCCACAGGTACTGGGTATGATAAGCAGCATAATGTGAAAATAGGACAGTTTAGGCTGATTTGAGTCTAGAATTGTATCCTAGATAATTTTTTTCTTTCTTTTTTTTTTTTGAGACTGAGTTTCACTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTACCTTCCAGGTTCAAGCGATTCTCCAGCCTCAGCCTCCTGAGTACCTGGGATTACAGGCATGTGTCACCACACCCGGGTAATTTTATATTTTTAATAGAGACAGGGTTTCTCTGTGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAATCCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTTATAATTTTTTTCTTTTATTCATGAAGTAGACACTCAACCCAAACACTGTTCAAATTTTTGTTAAGTGTACAAAATTTATCAGTTAAAGTTCTTTATTTGCGAGACAGAGTGGAAACTTGTTTGTCTCACTTAAGCAAAAAGGAATTTAGTGGAAGGGTATATGAAGCTCACAGTATCAAAGGTTGAAGAAGAACCACTCTGGGAATGGAGTGGAATCAGACAACTAAGTCTGCATAGCCAAAGCTCCTCAATAGTTTCATTCTGGCCGGCCGCAGTGGCTCATGCCTCTAATCTGAGCACTTTGGGAGGCTGAGGCGGATGGATCGCTTGAGGTTAGGAGCTTGAGAGCAGCCTGGCCAACACAGCGAAACCTCATCTCTCCAAAAATTCAAAAATTAGCCGAACATGGTGGCGGACAACTGCAGTCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAGCCTGGGAGACAGAGATTGCAGTGAGCTGAGATTGCACCACTGCACTCCATCCTGGGCAAAAGAGTGAGACTATGTCTCAAAAAAAAAAAAGTTTCATTCAGGCACTACCTTTATGAGGAATGAATTCTAACTGTGTATAGTTAGGATTAACTTTGGCTATGAGTAAAAAAACATCCAAAACAGTAATGGCTTAAACAAGGTAGAACTGTCTTTCTCATGACAGAAGTCCAGAGGAAGGCACACTCCAGAGCTCATAGAGGGGCTTCAAAAAGTCATGGGTCCAGGTCCCCCCTACTTGCTGCTCTTTCATCCTAGCATGTGTTTTCTACTTCTTGATCCAGGACAGCCATATTTCAGCCCGGAAAAAGTGTGTGGAAGTGCATACCCCTCCTTTGTAGATCCCGCTCAGGAAATTATCCAGCATACTTCCACTTATTTGCCATTGGCCACAGCTTAGTTACTTGGCTACGTCTAACCATAAGGAAAAATAATATAGTCTATTCCATCTGCCCAGCTGTGTTGGAGATTCTGTTATCGATGAAAACTGGATATTAGGGGACGTGTCATTCATTCTGCCACACTCCGGGACTGCTGTTTTTGTGTCTCCACTCAATATTTGTATCAGAAAGTAGCAGCCATTGTCTATGGGTTCCAGGTATGAAGAGTGATAAGACAGAGTCTGGAGCCTTATACAATCACTGGAAAGCCAACAAAGTCCAAATATTTACTCTCCAACCCTTTACAGAACAAGTTTGCCCTGACTTAGCATAATGCATTTGAGATGCGTATCCTTGTTGTTACTTGTATCAATAGTTCATTCTTTTGTGTTGAGTAATATTCCATTGTGTGGATGTACCATGGTCTGTTCATCTTTTGACCAGCTGAGGGACATTAGGATTATTTCCAGCTTTAGGTGATTATAAATGAAGCCACTGTAAACATTTGCATACAGATTTTGTGAACATAGGTTTTAGTTTTTCTTGAGTGAATACTCAGGAGAAGGATTTGCTGGGTCATGTGGTAAGTGTATATGTTTAACTTTATAATAGGGCCAGGTGTGGTAGCTCATGCCTGTAATTTCAGCATGAGATCACATGCTCCTCCTCTGGGAAGCCGAG | GGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGTCAGAATATTAGATGCACACTCCACTCCCCTCAACCCTGGGAGAGGCCACTGGGCTGTATTGGCCTTTCTCTGCAGTTTCAGGGATCCTCTGGATCAGCAGCAGGCCACCCAGGCATTTAGAGTGTGCTAGATCCTTTCAAGTGCTTAGAGACAGAAACCAGTCCCCCAGAGAGCCCCAAAAAGCTAGAATGTTGGATGCATACTGCACCTGTTTCCCTCCCTAGGGAGAAGCTGGGAGGTGGGAGTTTTCTCCTGCTTGTTCTGCACTGAGCCAAGGATGAGTGATGAGGGAGTGAGTGCTTGCCAGTCTAAACTGTCACCTTTGTTCTCCATGGTTCTTTGTTCTCCCTCAACCTGCTGCCCTTTTCTGTTAGCACTTAGATTCAAACAAAACAGAAACCTGATCCCCCCAAAAGTCCGAACATTATACATACTTTTCAGTCTTCTCTTTCTGTCTCAGGTAGAAGCTAGGAGCTGGGGGTTATCTCATGATCATGCTTGAGCAGGGAGGGAAGAGACTATGGCAAATGAGTGCTACAAATTTTTCTGCTGGATTCGATGCAGCTGGTTTTGTGCTCACCTGGGGAGCAGGAGCCTCTTACTGGTTTCTGGATTTCTCACAGGGAATTGGTTTGTTTGTTGCTGTTGGCTCAGTGTCTCCATCGGGGAAGGAGGATCTGGGGTTTCCTACTCCACCATCTTCACCTCTTGCTGAGGTCACCACCTTGACATCATATCTTGATAAGTTGTCAACTTCTCTGGATTGGGAGCCTTTGGGGGATTAGGGATCATGCTGTCTCTGTGTGCTCAGGATTTGACACAGGTGAGTGAGTAGAGTATAAACCACACTGTAAGAATTTTAAGGGAGTGCAAAGGAAGGAAAAATTATTTCTGCTGGGATAGTTTCTGGAAAGGCACTGGTTAGGGACACATTTGCAGTTAGGACTGTGTTTTAATTCTAATTGCAGTTACTATTTGGATGATTTTGGGTGAGTTATTGAACCTTCCTGAGCCTCTGTTTCCTTGGCTATAAAGTGGGGACAATATCAGCATAATTTCTTTTCTTTTTTCAGGGGGATAGGGTCCGTTGCCCAGGCTGGAATGCAGTGGTACGATCACAGCTCACTGCAGCGTTGACCTTCCCAGGCTCAGATGATCTTCCCACTTCAGCCTCCTGAGTAGCTGGGACCACAGGCACCATGGTGGGACTACCCCACTATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTCTCGCTATGTTGCTCAGGCTGGTCTCGAACTCCTGAACTCAAGTAATCATGCTCGCGTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCACGCCTGGCCAGCAGTGTAATTTCCTCATGACTAAATGTGATTGAATGCATTCAGCACCTAGTAAGCATTGAGTAAATGATAGCGATGATAGTCGTCATTATTGTAAAGATGTTTGTGGTTTGTTCATTTCAGATGCTTGCTCTGTCAAGGCACAGCCTATTGTCTCCTTTGCTCAGTGTGACATCATTCAGACGCTTCTACAGAGGTGACAGCCCAACAGATTCCCAAAAGGACATGATTGAAATCCCTTTGCCTCCATGGCAGGAGAGAACTGATGAATCCATAGAAACCAAAAGAGCCCGCCTGCTCTATGAGAGCAGAAAGAGGGGAATGTTGGAAAACTGCATTCTTCTTAGGTATGGGACTAGGAGTCTTTTTTTTTAAATCGGGCAGCTTCCTGAGCCAGAGTAGGTTCAGAGAGACTCCCAGGAGTAGGAGTCTTGGTGTCACTTCTCTTTTATTAGACACAGCCTTCTCAACCTCTTTTTCTTTTTTTCTTTCTTGTTTTTAGTCTTTTTGCTAAAGAACATCTGCAGCACATGACAAAAGCAGCTGAACCTCTATGACCGCCTGATTAACGAGCCTAGTAATGACTGGGATATTTACTACTGGGCCACAGGTACTGGGTATGATAAGCAGCATAATGTGAAAATAGGACAGTTTAGGCTGATTTGAGTCTAGAATTGTATCCTAGATAATTTTTTTCTTTCTTTTTTTTTTTTGAGACTGAGTTTCACTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTACCTTCCAGGTTCAAGCGATTCTCCAGCCTCAGCCTCCTGAGTACCTGGGATTACAGGCATGTGTCACCACACCCGGGTAATTTTATATTTTTAATAGAGACAGGGTTTCTCTGTGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAATCCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTTATAATTTTTTTCTTTTATTCATGAAGTAGACACTCAACCCAAACACTGTTCAAATTTTTGTTAAGTGTACAAAATTTATCAGTTAAAGTTCTTTATTTGCGAGACAGAGTGGAAACTTGTTTGTCTCACTTAAGCAAAAAGGAATTTAGTGGAAGGGTATATGAAGCTCACAGTATCAAAGGTTGAAGAAGAACCACTCTGGGAATGGAGTGGAATCAGACAACTAAGTCTGCATAGCCAAAGCTCCTCAATAGTTTCATTCTGGCCGGCCGCAGTGGCTCATGCCTCTAATCTGAGCACTTTGGGAGGCTGAGGCGGATGGATCGCTTGAGGTTAGGAGCTTGAGAGCAGCCTGGCCAACACAGCGAAACCTCATCTCTCCAAAAATTCAAAAATTAGCCGAACATGGTGGCGGACAACTGCAGTCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAGCCTGGGAGACAGAGATTGCAGTGAGCTGAGATTGCACCACTGCACTCCATCCTGGGCAAAAGAGTGAGACTATGTCTCAAAAAAAAAAAAGTTTCATTCAGGCACTACCTTTATGAGGAATGAATTCTAACTGTGTATAGTTAGGATTAACTTTGGCTATGAGTAAAAAAACATCCAAAACAGTAATGGCTTAAACAAGGTAGAACTGTCTTTCTCATGACAGAAGTCCAGAGGAAGGCACACTCCAGAGCTCATAGAGGGGCTTCAAAAAGTCATGGGTCCAGGTCCCCCCTACTTGCTGCTCTTTCATCCTAGCATGTGTTTTCTACTTCTTGATCCAGGACAGCCATATTTCAGCCCGGAAAAAGTGTGTGGAAGTGCATACCCCTCCTTTGTAGATCCCGCTCAGGAAATTATCCAGCATACTTCCACTTATTTGCCATTGGCCACAGCTTAGTTACTTGGCTACGTCTAACCATAAGGAAAAATAATATAGTCTATTCCATCTGCCCAGCTGTGTTGGAGATTCTGTTATCGATGAAAACTGGATATTAGGGGACGTGTCATTCATTCTGCCACACTCCGGGACTGCTGTTTTTGTGTCTCCACTCAATATTTGTATCAGAAAGTAGCAGCCATTGTCTATGGGTTCCAGGTATGAAGAGTGATAAGACAGAGTCTGGAGCCTTATACAATCACTGGAAAGCCAACAAAGTCCAAATATTTACTCTCCAACCCTTTACAGAACAAGTTTGCCCTGACTTAGCATAATGCATTTGAGATGCGTATCCTTGTTGTTACTTGTATCAATAGTTCATTCTTTTGTGTTGAGTAATATTCCATTGTGTGGATGTACCATGGTCTGTTCATCTTTTGACCAGCTGAGGGACATTAGGATTATTTCCAGCTTTAGGTGATTATAAATGAAGCCACTGTAAACATTTGCATACAGATTTTGTGAACATAGGTTTTAGTTTTTCTTGAGTGAATACTCAGGAGAAGGATTTGCTGGGTCATGTGGTAAGTGTATATGTTTAACTTTATAATAGGGCCAGGTGTGGTAGCTCATGCCTGTAATTTCAGCATGAGATCACATGCTCCTCCTCTGGGAAGCCGAGNN | pathogenic | 176,603 |
Gene SDHAF2 (succinate dehydrogenase complex assembly factor 2) variant at chromosome 11, position 61438048—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_2'] | TAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGTCAGAATATTAGATGCACACTCCACTCCCCTCAACCCTGGGAGAGGCCACTGGGCTGTATTGGCCTTTCTCTGCAGTTTCAGGGATCCTCTGGATCAGCAGCAGGCCACCCAGGCATTTAGAGTGTGCTAGATCCTTTCAAGTGCTTAGAGACAGAAACCAGTCCCCCAGAGAGCCCCAAAAAGCTAGAATGTTGGATGCATACTGCACCTGTTTCCCTCCCTAGGGAGAAGCTGGGAGGTGGGAGTTTTCTCCTGCTTGTTCTGCACTGAGCCAAGGATGAGTGATGAGGGAGTGAGTGCTTGCCAGTCTAAACTGTCACCTTTGTTCTCCATGGTTCTTTGTTCTCCCTCAACCTGCTGCCCTTTTCTGTTAGCACTTAGATTCAAACAAAACAGAAACCTGATCCCCCCAAAAGTCCGAACATTATACATACTTTTCAGTCTTCTCTTTCTGTCTCAGGTAGAAGCTAGGAGCTGGGGGTTATCTCATGATCATGCTTGAGCAGGGAGGGAAGAGACTATGGCAAATGAGTGCTACAAATTTTTCTGCTGGATTCGATGCAGCTGGTTTTGTGCTCACCTGGGGAGCAGGAGCCTCTTACTGGTTTCTGGATTTCTCACAGGGAATTGGTTTGTTTGTTGCTGTTGGCTCAGTGTCTCCATCGGGGAAGGAGGATCTGGGGTTTCCTACTCCACCATCTTCACCTCTTGCTGAGGTCACCACCTTGACATCATATCTTGATAAGTTGTCAACTTCTCTGGATTGGGAGCCTTTGGGGGATTAGGGATCATGCTGTCTCTGTGTGCTCAGGATTTGACACAGGTGAGTGAGTAGAGTATAAACCACACTGTAAGAATTTTAAGGGAGTGCAAAGGAAGGAAAAATTATTTCTGCTGGGATAGTTTCTGGAAAGGCACTGGTTAGGGACACATTTGCAGTTAGGACTGTGTTTTAATTCTAATTGCAGTTACTATTTGGATGATTTTGGGTGAGTTATTGAACCTTCCTGAGCCTCTGTTTCCTTGGCTATAAAGTGGGGACAATATCAGCATAATTTCTTTTCTTTTTTCAGGGGGATAGGGTCCGTTGCCCAGGCTGGAATGCAGTGGTACGATCACAGCTCACTGCAGCGTTGACCTTCCCAGGCTCAGATGATCTTCCCACTTCAGCCTCCTGAGTAGCTGGGACCACAGGCACCATGGTGGGACTACCCCACTATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTCTCGCTATGTTGCTCAGGCTGGTCTCGAACTCCTGAACTCAAGTAATCATGCTCGCGTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCACGCCTGGCCAGCAGTGTAATTTCCTCATGACTAAATGTGATTGAATGCATTCAGCACCTAGTAAGCATTGAGTAAATGATAGCGATGATAGTCGTCATTATTGTAAAGATGTTTGTGGTTTGTTCATTTCAGATGCTTGCTCTGTCAAGGCACAGCCTATTGTCTCCTTTGCTCAGTGTGACATCATTCAGACGCTTCTACAGAGGTGACAGCCCAACAGATTCCCAAAAGGACATGATTGAAATCCCTTTGCCTCCATGGCAGGAGAGAACTGATGAATCCATAGAAACCAAAAGAGCCCGCCTGCTCTATGAGAGCAGAAAGAGGGGAATGTTGGAAAACTGCATTCTTCTTAGGTATGGGACTAGGAGTCTTTTTTTTTAAATCGGGCAGCTTCCTGAGCCAGAGTAGGTTCAGAGAGACTCCCAGGAGTAGGAGTCTTGGTGTCACTTCTCTTTTATTAGACACAGCCTTCTCAACCTCTTTTTCTTTTTTTCTTTCTTGTTTTTAGTCTTTTTGCTAAAGAACATCTGCAGCACATGACAGAAAAGCAGCTGAACCTCTATGACCGCCTGATTAACGAGCCTAGTAATGACTGGGATATTTACTACTGGGCCACAGGTACTGGGTATGATAAGCAGCATAATGTGAAAATAGGACAGTTTAGGCTGATTTGAGTCTAGAATTGTATCCTAGATAATTTTTTTCTTTCTTTTTTTTTTTTGAGACTGAGTTTCACTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTACCTTCCAGGTTCAAGCGATTCTCCAGCCTCAGCCTCCTGAGTACCTGGGATTACAGGCATGTGTCACCACACCCGGGTAATTTTATATTTTTAATAGAGACAGGGTTTCTCTGTGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAATCCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTTATAATTTTTTTCTTTTATTCATGAAGTAGACACTCAACCCAAACACTGTTCAAATTTTTGTTAAGTGTACAAAATTTATCAGTTAAAGTTCTTTATTTGCGAGACAGAGTGGAAACTTGTTTGTCTCACTTAAGCAAAAAGGAATTTAGTGGAAGGGTATATGAAGCTCACAGTATCAAAGGTTGAAGAAGAACCACTCTGGGAATGGAGTGGAATCAGACAACTAAGTCTGCATAGCCAAAGCTCCTCAATAGTTTCATTCTGGCCGGCCGCAGTGGCTCATGCCTCTAATCTGAGCACTTTGGGAGGCTGAGGCGGATGGATCGCTTGAGGTTAGGAGCTTGAGAGCAGCCTGGCCAACACAGCGAAACCTCATCTCTCCAAAAATTCAAAAATTAGCCGAACATGGTGGCGGACAACTGCAGTCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAGCCTGGGAGACAGAGATTGCAGTGAGCTGAGATTGCACCACTGCACTCCATCCTGGGCAAAAGAGTGAGACTATGTCTCAAAAAAAAAAAAGTTTCATTCAGGCACTACCTTTATGAGGAATGAATTCTAACTGTGTATAGTTAGGATTAACTTTGGCTATGAGTAAAAAAACATCCAAAACAGTAATGGCTTAAACAAGGTAGAACTGTCTTTCTCATGACAGAAGTCCAGAGGAAGGCACACTCCAGAGCTCATAGAGGGGCTTCAAAAAGTCATGGGTCCAGGTCCCCCCTACTTGCTGCTCTTTCATCCTAGCATGTGTTTTCTACTTCTTGATCCAGGACAGCCATATTTCAGCCCGGAAAAAGTGTGTGGAAGTGCATACCCCTCCTTTGTAGATCCCGCTCAGGAAATTATCCAGCATACTTCCACTTATTTGCCATTGGCCACAGCTTAGTTACTTGGCTACGTCTAACCATAAGGAAAAATAATATAGTCTATTCCATCTGCCCAGCTGTGTTGGAGATTCTGTTATCGATGAAAACTGGATATTAGGGGACGTGTCATTCATTCTGCCACACTCCGGGACTGCTGTTTTTGTGTCTCCACTCAATATTTGTATCAGAAAGTAGCAGCCATTGTCTATGGGTTCCAGGTATGAAGAGTGATAAGACAGAGTCTGGAGCCTTATACAATCACTGGAAAGCCAACAAAGTCCAAATATTTACTCTCCAACCCTTTACAGAACAAGTTTGCCCTGACTTAGCATAATGCATTTGAGATGCGTATCCTTGTTGTTACTTGTATCAATAGTTCATTCTTTTGTGTTGAGTAATATTCCATTGTGTGGATGTACCATGGTCTGTTCATCTTTTGACCAGCTGAGGGACATTAGGATTATTTCCAGCTTTAGGTGATTATAAATGAAGCCACTGTAAACATTTGCATACAGATTTTGTGAACATAGGTTTTAGTTTTTCTTGAGTGAATACTCAGGAGAAGGATTTGCTGGGTCATGTGGTAAGTGTATATGTTTAACTTTATAATAGGGCCAGGTGTGGTAGCTCATGCCTGTAATTTCAGCATGAGATCACATGCTCCTCCTCTGGGAAGCCGAGGCAGGTGGATCA | TAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGTCAGAATATTAGATGCACACTCCACTCCCCTCAACCCTGGGAGAGGCCACTGGGCTGTATTGGCCTTTCTCTGCAGTTTCAGGGATCCTCTGGATCAGCAGCAGGCCACCCAGGCATTTAGAGTGTGCTAGATCCTTTCAAGTGCTTAGAGACAGAAACCAGTCCCCCAGAGAGCCCCAAAAAGCTAGAATGTTGGATGCATACTGCACCTGTTTCCCTCCCTAGGGAGAAGCTGGGAGGTGGGAGTTTTCTCCTGCTTGTTCTGCACTGAGCCAAGGATGAGTGATGAGGGAGTGAGTGCTTGCCAGTCTAAACTGTCACCTTTGTTCTCCATGGTTCTTTGTTCTCCCTCAACCTGCTGCCCTTTTCTGTTAGCACTTAGATTCAAACAAAACAGAAACCTGATCCCCCCAAAAGTCCGAACATTATACATACTTTTCAGTCTTCTCTTTCTGTCTCAGGTAGAAGCTAGGAGCTGGGGGTTATCTCATGATCATGCTTGAGCAGGGAGGGAAGAGACTATGGCAAATGAGTGCTACAAATTTTTCTGCTGGATTCGATGCAGCTGGTTTTGTGCTCACCTGGGGAGCAGGAGCCTCTTACTGGTTTCTGGATTTCTCACAGGGAATTGGTTTGTTTGTTGCTGTTGGCTCAGTGTCTCCATCGGGGAAGGAGGATCTGGGGTTTCCTACTCCACCATCTTCACCTCTTGCTGAGGTCACCACCTTGACATCATATCTTGATAAGTTGTCAACTTCTCTGGATTGGGAGCCTTTGGGGGATTAGGGATCATGCTGTCTCTGTGTGCTCAGGATTTGACACAGGTGAGTGAGTAGAGTATAAACCACACTGTAAGAATTTTAAGGGAGTGCAAAGGAAGGAAAAATTATTTCTGCTGGGATAGTTTCTGGAAAGGCACTGGTTAGGGACACATTTGCAGTTAGGACTGTGTTTTAATTCTAATTGCAGTTACTATTTGGATGATTTTGGGTGAGTTATTGAACCTTCCTGAGCCTCTGTTTCCTTGGCTATAAAGTGGGGACAATATCAGCATAATTTCTTTTCTTTTTTCAGGGGGATAGGGTCCGTTGCCCAGGCTGGAATGCAGTGGTACGATCACAGCTCACTGCAGCGTTGACCTTCCCAGGCTCAGATGATCTTCCCACTTCAGCCTCCTGAGTAGCTGGGACCACAGGCACCATGGTGGGACTACCCCACTATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTCTCGCTATGTTGCTCAGGCTGGTCTCGAACTCCTGAACTCAAGTAATCATGCTCGCGTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCACGCCTGGCCAGCAGTGTAATTTCCTCATGACTAAATGTGATTGAATGCATTCAGCACCTAGTAAGCATTGAGTAAATGATAGCGATGATAGTCGTCATTATTGTAAAGATGTTTGTGGTTTGTTCATTTCAGATGCTTGCTCTGTCAAGGCACAGCCTATTGTCTCCTTTGCTCAGTGTGACATCATTCAGACGCTTCTACAGAGGTGACAGCCCAACAGATTCCCAAAAGGACATGATTGAAATCCCTTTGCCTCCATGGCAGGAGAGAACTGATGAATCCATAGAAACCAAAAGAGCCCGCCTGCTCTATGAGAGCAGAAAGAGGGGAATGTTGGAAAACTGCATTCTTCTTAGGTATGGGACTAGGAGTCTTTTTTTTTAAATCGGGCAGCTTCCTGAGCCAGAGTAGGTTCAGAGAGACTCCCAGGAGTAGGAGTCTTGGTGTCACTTCTCTTTTATTAGACACAGCCTTCTCAACCTCTTTTTCTTTTTTTCTTTCTTGTTTTTAGTCTTTTTGCTAAAGAACATCTGCAGCACATGACAGAAAAGCAGCTAGAACCTCTATGACCGCCTGATTAACGAGCCTAGTAATGACTGGGATATTTACTACTGGGCCACAGGTACTGGGTATGATAAGCAGCATAATGTGAAAATAGGACAGTTTAGGCTGATTTGAGTCTAGAATTGTATCCTAGATAATTTTTTTCTTTCTTTTTTTTTTTTGAGACTGAGTTTCACTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTACCTTCCAGGTTCAAGCGATTCTCCAGCCTCAGCCTCCTGAGTACCTGGGATTACAGGCATGTGTCACCACACCCGGGTAATTTTATATTTTTAATAGAGACAGGGTTTCTCTGTGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAATCCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTTATAATTTTTTTCTTTTATTCATGAAGTAGACACTCAACCCAAACACTGTTCAAATTTTTGTTAAGTGTACAAAATTTATCAGTTAAAGTTCTTTATTTGCGAGACAGAGTGGAAACTTGTTTGTCTCACTTAAGCAAAAAGGAATTTAGTGGAAGGGTATATGAAGCTCACAGTATCAAAGGTTGAAGAAGAACCACTCTGGGAATGGAGTGGAATCAGACAACTAAGTCTGCATAGCCAAAGCTCCTCAATAGTTTCATTCTGGCCGGCCGCAGTGGCTCATGCCTCTAATCTGAGCACTTTGGGAGGCTGAGGCGGATGGATCGCTTGAGGTTAGGAGCTTGAGAGCAGCCTGGCCAACACAGCGAAACCTCATCTCTCCAAAAATTCAAAAATTAGCCGAACATGGTGGCGGACAACTGCAGTCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAGCCTGGGAGACAGAGATTGCAGTGAGCTGAGATTGCACCACTGCACTCCATCCTGGGCAAAAGAGTGAGACTATGTCTCAAAAAAAAAAAAGTTTCATTCAGGCACTACCTTTATGAGGAATGAATTCTAACTGTGTATAGTTAGGATTAACTTTGGCTATGAGTAAAAAAACATCCAAAACAGTAATGGCTTAAACAAGGTAGAACTGTCTTTCTCATGACAGAAGTCCAGAGGAAGGCACACTCCAGAGCTCATAGAGGGGCTTCAAAAAGTCATGGGTCCAGGTCCCCCCTACTTGCTGCTCTTTCATCCTAGCATGTGTTTTCTACTTCTTGATCCAGGACAGCCATATTTCAGCCCGGAAAAAGTGTGTGGAAGTGCATACCCCTCCTTTGTAGATCCCGCTCAGGAAATTATCCAGCATACTTCCACTTATTTGCCATTGGCCACAGCTTAGTTACTTGGCTACGTCTAACCATAAGGAAAAATAATATAGTCTATTCCATCTGCCCAGCTGTGTTGGAGATTCTGTTATCGATGAAAACTGGATATTAGGGGACGTGTCATTCATTCTGCCACACTCCGGGACTGCTGTTTTTGTGTCTCCACTCAATATTTGTATCAGAAAGTAGCAGCCATTGTCTATGGGTTCCAGGTATGAAGAGTGATAAGACAGAGTCTGGAGCCTTATACAATCACTGGAAAGCCAACAAAGTCCAAATATTTACTCTCCAACCCTTTACAGAACAAGTTTGCCCTGACTTAGCATAATGCATTTGAGATGCGTATCCTTGTTGTTACTTGTATCAATAGTTCATTCTTTTGTGTTGAGTAATATTCCATTGTGTGGATGTACCATGGTCTGTTCATCTTTTGACCAGCTGAGGGACATTAGGATTATTTCCAGCTTTAGGTGATTATAAATGAAGCCACTGTAAACATTTGCATACAGATTTTGTGAACATAGGTTTTAGTTTTTCTTGAGTGAATACTCAGGAGAAGGATTTGCTGGGTCATGTGGTAAGTGTATATGTTTAACTTTATAATAGGGCCAGGTGTGGTAGCTCATGCCTGTAATTTCAGCATGAGATCACATGCTCCTCCTCTGGGAAGCCGAGGCAGGTGGATC | pathogenic | 176,606 |
Evaluate the clinical significance of the mutation at chromosome 11, position 61438055 in gene SDHAF2 (succinate dehydrogenase complex assembly factor 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma'] | AGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGTCAGAATATTAGATGCACACTCCACTCCCCTCAACCCTGGGAGAGGCCACTGGGCTGTATTGGCCTTTCTCTGCAGTTTCAGGGATCCTCTGGATCAGCAGCAGGCCACCCAGGCATTTAGAGTGTGCTAGATCCTTTCAAGTGCTTAGAGACAGAAACCAGTCCCCCAGAGAGCCCCAAAAAGCTAGAATGTTGGATGCATACTGCACCTGTTTCCCTCCCTAGGGAGAAGCTGGGAGGTGGGAGTTTTCTCCTGCTTGTTCTGCACTGAGCCAAGGATGAGTGATGAGGGAGTGAGTGCTTGCCAGTCTAAACTGTCACCTTTGTTCTCCATGGTTCTTTGTTCTCCCTCAACCTGCTGCCCTTTTCTGTTAGCACTTAGATTCAAACAAAACAGAAACCTGATCCCCCCAAAAGTCCGAACATTATACATACTTTTCAGTCTTCTCTTTCTGTCTCAGGTAGAAGCTAGGAGCTGGGGGTTATCTCATGATCATGCTTGAGCAGGGAGGGAAGAGACTATGGCAAATGAGTGCTACAAATTTTTCTGCTGGATTCGATGCAGCTGGTTTTGTGCTCACCTGGGGAGCAGGAGCCTCTTACTGGTTTCTGGATTTCTCACAGGGAATTGGTTTGTTTGTTGCTGTTGGCTCAGTGTCTCCATCGGGGAAGGAGGATCTGGGGTTTCCTACTCCACCATCTTCACCTCTTGCTGAGGTCACCACCTTGACATCATATCTTGATAAGTTGTCAACTTCTCTGGATTGGGAGCCTTTGGGGGATTAGGGATCATGCTGTCTCTGTGTGCTCAGGATTTGACACAGGTGAGTGAGTAGAGTATAAACCACACTGTAAGAATTTTAAGGGAGTGCAAAGGAAGGAAAAATTATTTCTGCTGGGATAGTTTCTGGAAAGGCACTGGTTAGGGACACATTTGCAGTTAGGACTGTGTTTTAATTCTAATTGCAGTTACTATTTGGATGATTTTGGGTGAGTTATTGAACCTTCCTGAGCCTCTGTTTCCTTGGCTATAAAGTGGGGACAATATCAGCATAATTTCTTTTCTTTTTTCAGGGGGATAGGGTCCGTTGCCCAGGCTGGAATGCAGTGGTACGATCACAGCTCACTGCAGCGTTGACCTTCCCAGGCTCAGATGATCTTCCCACTTCAGCCTCCTGAGTAGCTGGGACCACAGGCACCATGGTGGGACTACCCCACTATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTCTCGCTATGTTGCTCAGGCTGGTCTCGAACTCCTGAACTCAAGTAATCATGCTCGCGTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCACGCCTGGCCAGCAGTGTAATTTCCTCATGACTAAATGTGATTGAATGCATTCAGCACCTAGTAAGCATTGAGTAAATGATAGCGATGATAGTCGTCATTATTGTAAAGATGTTTGTGGTTTGTTCATTTCAGATGCTTGCTCTGTCAAGGCACAGCCTATTGTCTCCTTTGCTCAGTGTGACATCATTCAGACGCTTCTACAGAGGTGACAGCCCAACAGATTCCCAAAAGGACATGATTGAAATCCCTTTGCCTCCATGGCAGGAGAGAACTGATGAATCCATAGAAACCAAAAGAGCCCGCCTGCTCTATGAGAGCAGAAAGAGGGGAATGTTGGAAAACTGCATTCTTCTTAGGTATGGGACTAGGAGTCTTTTTTTTTAAATCGGGCAGCTTCCTGAGCCAGAGTAGGTTCAGAGAGACTCCCAGGAGTAGGAGTCTTGGTGTCACTTCTCTTTTATTAGACACAGCCTTCTCAACCTCTTTTTCTTTTTTTCTTTCTTGTTTTTAGTCTTTTTGCTAAAGAACATCTGCAGCACATGACAGAAAAGCAGCTGAACCTCTATGACCGCCTGATTAACGAGCCTAGTAATGACTGGGATATTTACTACTGGGCCACAGGTACTGGGTATGATAAGCAGCATAATGTGAAAATAGGACAGTTTAGGCTGATTTGAGTCTAGAATTGTATCCTAGATAATTTTTTTCTTTCTTTTTTTTTTTTGAGACTGAGTTTCACTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTACCTTCCAGGTTCAAGCGATTCTCCAGCCTCAGCCTCCTGAGTACCTGGGATTACAGGCATGTGTCACCACACCCGGGTAATTTTATATTTTTAATAGAGACAGGGTTTCTCTGTGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAATCCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTTATAATTTTTTTCTTTTATTCATGAAGTAGACACTCAACCCAAACACTGTTCAAATTTTTGTTAAGTGTACAAAATTTATCAGTTAAAGTTCTTTATTTGCGAGACAGAGTGGAAACTTGTTTGTCTCACTTAAGCAAAAAGGAATTTAGTGGAAGGGTATATGAAGCTCACAGTATCAAAGGTTGAAGAAGAACCACTCTGGGAATGGAGTGGAATCAGACAACTAAGTCTGCATAGCCAAAGCTCCTCAATAGTTTCATTCTGGCCGGCCGCAGTGGCTCATGCCTCTAATCTGAGCACTTTGGGAGGCTGAGGCGGATGGATCGCTTGAGGTTAGGAGCTTGAGAGCAGCCTGGCCAACACAGCGAAACCTCATCTCTCCAAAAATTCAAAAATTAGCCGAACATGGTGGCGGACAACTGCAGTCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAGCCTGGGAGACAGAGATTGCAGTGAGCTGAGATTGCACCACTGCACTCCATCCTGGGCAAAAGAGTGAGACTATGTCTCAAAAAAAAAAAAGTTTCATTCAGGCACTACCTTTATGAGGAATGAATTCTAACTGTGTATAGTTAGGATTAACTTTGGCTATGAGTAAAAAAACATCCAAAACAGTAATGGCTTAAACAAGGTAGAACTGTCTTTCTCATGACAGAAGTCCAGAGGAAGGCACACTCCAGAGCTCATAGAGGGGCTTCAAAAAGTCATGGGTCCAGGTCCCCCCTACTTGCTGCTCTTTCATCCTAGCATGTGTTTTCTACTTCTTGATCCAGGACAGCCATATTTCAGCCCGGAAAAAGTGTGTGGAAGTGCATACCCCTCCTTTGTAGATCCCGCTCAGGAAATTATCCAGCATACTTCCACTTATTTGCCATTGGCCACAGCTTAGTTACTTGGCTACGTCTAACCATAAGGAAAAATAATATAGTCTATTCCATCTGCCCAGCTGTGTTGGAGATTCTGTTATCGATGAAAACTGGATATTAGGGGACGTGTCATTCATTCTGCCACACTCCGGGACTGCTGTTTTTGTGTCTCCACTCAATATTTGTATCAGAAAGTAGCAGCCATTGTCTATGGGTTCCAGGTATGAAGAGTGATAAGACAGAGTCTGGAGCCTTATACAATCACTGGAAAGCCAACAAAGTCCAAATATTTACTCTCCAACCCTTTACAGAACAAGTTTGCCCTGACTTAGCATAATGCATTTGAGATGCGTATCCTTGTTGTTACTTGTATCAATAGTTCATTCTTTTGTGTTGAGTAATATTCCATTGTGTGGATGTACCATGGTCTGTTCATCTTTTGACCAGCTGAGGGACATTAGGATTATTTCCAGCTTTAGGTGATTATAAATGAAGCCACTGTAAACATTTGCATACAGATTTTGTGAACATAGGTTTTAGTTTTTCTTGAGTGAATACTCAGGAGAAGGATTTGCTGGGTCATGTGGTAAGTGTATATGTTTAACTTTATAATAGGGCCAGGTGTGGTAGCTCATGCCTGTAATTTCAGCATGAGATCACATGCTCCTCCTCTGGGAAGCCGAGGCAGGTGGATCACTTGAGG | AGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGTCAGAATATTAGATGCACACTCCACTCCCCTCAACCCTGGGAGAGGCCACTGGGCTGTATTGGCCTTTCTCTGCAGTTTCAGGGATCCTCTGGATCAGCAGCAGGCCACCCAGGCATTTAGAGTGTGCTAGATCCTTTCAAGTGCTTAGAGACAGAAACCAGTCCCCCAGAGAGCCCCAAAAAGCTAGAATGTTGGATGCATACTGCACCTGTTTCCCTCCCTAGGGAGAAGCTGGGAGGTGGGAGTTTTCTCCTGCTTGTTCTGCACTGAGCCAAGGATGAGTGATGAGGGAGTGAGTGCTTGCCAGTCTAAACTGTCACCTTTGTTCTCCATGGTTCTTTGTTCTCCCTCAACCTGCTGCCCTTTTCTGTTAGCACTTAGATTCAAACAAAACAGAAACCTGATCCCCCCAAAAGTCCGAACATTATACATACTTTTCAGTCTTCTCTTTCTGTCTCAGGTAGAAGCTAGGAGCTGGGGGTTATCTCATGATCATGCTTGAGCAGGGAGGGAAGAGACTATGGCAAATGAGTGCTACAAATTTTTCTGCTGGATTCGATGCAGCTGGTTTTGTGCTCACCTGGGGAGCAGGAGCCTCTTACTGGTTTCTGGATTTCTCACAGGGAATTGGTTTGTTTGTTGCTGTTGGCTCAGTGTCTCCATCGGGGAAGGAGGATCTGGGGTTTCCTACTCCACCATCTTCACCTCTTGCTGAGGTCACCACCTTGACATCATATCTTGATAAGTTGTCAACTTCTCTGGATTGGGAGCCTTTGGGGGATTAGGGATCATGCTGTCTCTGTGTGCTCAGGATTTGACACAGGTGAGTGAGTAGAGTATAAACCACACTGTAAGAATTTTAAGGGAGTGCAAAGGAAGGAAAAATTATTTCTGCTGGGATAGTTTCTGGAAAGGCACTGGTTAGGGACACATTTGCAGTTAGGACTGTGTTTTAATTCTAATTGCAGTTACTATTTGGATGATTTTGGGTGAGTTATTGAACCTTCCTGAGCCTCTGTTTCCTTGGCTATAAAGTGGGGACAATATCAGCATAATTTCTTTTCTTTTTTCAGGGGGATAGGGTCCGTTGCCCAGGCTGGAATGCAGTGGTACGATCACAGCTCACTGCAGCGTTGACCTTCCCAGGCTCAGATGATCTTCCCACTTCAGCCTCCTGAGTAGCTGGGACCACAGGCACCATGGTGGGACTACCCCACTATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTCTCGCTATGTTGCTCAGGCTGGTCTCGAACTCCTGAACTCAAGTAATCATGCTCGCGTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCACGCCTGGCCAGCAGTGTAATTTCCTCATGACTAAATGTGATTGAATGCATTCAGCACCTAGTAAGCATTGAGTAAATGATAGCGATGATAGTCGTCATTATTGTAAAGATGTTTGTGGTTTGTTCATTTCAGATGCTTGCTCTGTCAAGGCACAGCCTATTGTCTCCTTTGCTCAGTGTGACATCATTCAGACGCTTCTACAGAGGTGACAGCCCAACAGATTCCCAAAAGGACATGATTGAAATCCCTTTGCCTCCATGGCAGGAGAGAACTGATGAATCCATAGAAACCAAAAGAGCCCGCCTGCTCTATGAGAGCAGAAAGAGGGGAATGTTGGAAAACTGCATTCTTCTTAGGTATGGGACTAGGAGTCTTTTTTTTTAAATCGGGCAGCTTCCTGAGCCAGAGTAGGTTCAGAGAGACTCCCAGGAGTAGGAGTCTTGGTGTCACTTCTCTTTTATTAGACACAGCCTTCTCAACCTCTTTTTCTTTTTTTCTTTCTTGTTTTTAGTCTTTTTGCTAAAGAACATCTGCAGCACATGACAGAAAAGCAGCTGAACCTCTTATGACCGCCTGATTAACGAGCCTAGTAATGACTGGGATATTTACTACTGGGCCACAGGTACTGGGTATGATAAGCAGCATAATGTGAAAATAGGACAGTTTAGGCTGATTTGAGTCTAGAATTGTATCCTAGATAATTTTTTTCTTTCTTTTTTTTTTTTGAGACTGAGTTTCACTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTACCTTCCAGGTTCAAGCGATTCTCCAGCCTCAGCCTCCTGAGTACCTGGGATTACAGGCATGTGTCACCACACCCGGGTAATTTTATATTTTTAATAGAGACAGGGTTTCTCTGTGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAATCCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTTATAATTTTTTTCTTTTATTCATGAAGTAGACACTCAACCCAAACACTGTTCAAATTTTTGTTAAGTGTACAAAATTTATCAGTTAAAGTTCTTTATTTGCGAGACAGAGTGGAAACTTGTTTGTCTCACTTAAGCAAAAAGGAATTTAGTGGAAGGGTATATGAAGCTCACAGTATCAAAGGTTGAAGAAGAACCACTCTGGGAATGGAGTGGAATCAGACAACTAAGTCTGCATAGCCAAAGCTCCTCAATAGTTTCATTCTGGCCGGCCGCAGTGGCTCATGCCTCTAATCTGAGCACTTTGGGAGGCTGAGGCGGATGGATCGCTTGAGGTTAGGAGCTTGAGAGCAGCCTGGCCAACACAGCGAAACCTCATCTCTCCAAAAATTCAAAAATTAGCCGAACATGGTGGCGGACAACTGCAGTCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAGCCTGGGAGACAGAGATTGCAGTGAGCTGAGATTGCACCACTGCACTCCATCCTGGGCAAAAGAGTGAGACTATGTCTCAAAAAAAAAAAAGTTTCATTCAGGCACTACCTTTATGAGGAATGAATTCTAACTGTGTATAGTTAGGATTAACTTTGGCTATGAGTAAAAAAACATCCAAAACAGTAATGGCTTAAACAAGGTAGAACTGTCTTTCTCATGACAGAAGTCCAGAGGAAGGCACACTCCAGAGCTCATAGAGGGGCTTCAAAAAGTCATGGGTCCAGGTCCCCCCTACTTGCTGCTCTTTCATCCTAGCATGTGTTTTCTACTTCTTGATCCAGGACAGCCATATTTCAGCCCGGAAAAAGTGTGTGGAAGTGCATACCCCTCCTTTGTAGATCCCGCTCAGGAAATTATCCAGCATACTTCCACTTATTTGCCATTGGCCACAGCTTAGTTACTTGGCTACGTCTAACCATAAGGAAAAATAATATAGTCTATTCCATCTGCCCAGCTGTGTTGGAGATTCTGTTATCGATGAAAACTGGATATTAGGGGACGTGTCATTCATTCTGCCACACTCCGGGACTGCTGTTTTTGTGTCTCCACTCAATATTTGTATCAGAAAGTAGCAGCCATTGTCTATGGGTTCCAGGTATGAAGAGTGATAAGACAGAGTCTGGAGCCTTATACAATCACTGGAAAGCCAACAAAGTCCAAATATTTACTCTCCAACCCTTTACAGAACAAGTTTGCCCTGACTTAGCATAATGCATTTGAGATGCGTATCCTTGTTGTTACTTGTATCAATAGTTCATTCTTTTGTGTTGAGTAATATTCCATTGTGTGGATGTACCATGGTCTGTTCATCTTTTGACCAGCTGAGGGACATTAGGATTATTTCCAGCTTTAGGTGATTATAAATGAAGCCACTGTAAACATTTGCATACAGATTTTGTGAACATAGGTTTTAGTTTTTCTTGAGTGAATACTCAGGAGAAGGATTTGCTGGGTCATGTGGTAAGTGTATATGTTTAACTTTATAATAGGGCCAGGTGTGGTAGCTCATGCCTGTAATTTCAGCATGAGATCACATGCTCCTCCTCTGGGAAGCCGAGGCAGGTGGATCACTTGAG | pathogenic | 176,609 |
Evaluate if the mutation on chromosome 11 at position 61771540 in MYRF (myelin regulatory factor) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiac-urogenital_syndrome', 'Non-immune_hydrops_fetalis'] | GGGGAGCCTGGCCCTGCCTCTGAGCAAGTATCCCCGCGGTGATGCCACCCGCCTGCCCGCCTGCGCCATCATGGACGCACCCTTCGGCGGTAAGTGGGTGGCTGGGGAAGGCCGTGGGTGCAGCCTGGGTGCAGGCTTCCCAGGCCGGGCCCACCTCACCTTAGAGGGTGCTCAGGGGTGCCCTGGCCCCCAGGTGGCCAAGAGCAGAACCACCGCGGGAGCAGGCTCCCCGCAGTCCGGATTGGGGTCAAGAGTTCTGTTTATCTTACCAAAAACATCCCTGGAATGCCTCCTGGGGAACAAAGGGAGCTGGGGCCTCCCCGCTCAGGCTGGGGGGCTGGCCCCTGAGAGCCCAGAAGAGGGACTGCCTGCCGGAGAGGGGAACACTGGGCAGGCCTGGGCTGGGGGTCTCCGGAGACGCCTTCCTGAGGCCCAGAGGAGGAGCAGGCCTCAGAGGAGATGGGGACGGAGGGGGACCTTTAGATTTGGGTTGGATTCTCCTGGTCCAGCCTGGGGGCAGGAGGTGGCTAGGATGAGGTGAAAGGCTGCCCCTCCTTGGGCAGGTTTGTGCCTCCCTGCCCAGGCCTCTAGTAGGTGGCTGACCAACGGCCCTCCCACCTAGGGTAGGTGGGGGGCAGCCCCCGGGCTTGGCTCAGGACGGGGTGGAAGCAGGAGACTCTGCCTTGGGGAGGACAGTGCCCAGGAGCCTGAGTGAGGTTGGTCTCAGATGCCCGCTCCCCCATCTCTCCTGCAGAGCCCCACCTCCTGCGCACGATAACCCCTGAGACACTGTGCCACGTGGGAGTGCCCTCCCGCCTGGAGCATCCGCCCCCACCTCCAGCCCACTTGCCAGGCCCCCCGCCACCCCCACCACCCCCACCTCACTACCCTGTCCTGCAGCGGGATCTGTACATGAAGGCCGAGCCCCCGATCCCCCACTACGCTGCCATGGGGCAGGGGCTGGTGCCCACTGATCTTCACCACACCCAGCAGTCCCAGATGCTGCACCAGCTCCTGCAGCAGCACGGAGCTGAGTAAGACGTGGGTGGCTGGCTCCATGGGGTGGGAAGGTGGGGTACAGGGACCAGGGTGGGCAGGGCGGCGGGCAGGCCAGAGAGGGAGGTAGGGACCGGGATGCACCCAGGGAGGGCAGAAGGCTCTGCAGGGCAGATGGGGGTAACATATTTATACATGTTTACCCAGCAATACCTTGAGGGGTTTACAGCCATGGCTAATTGCTCACAACTACCTTATCTGGTGGGCACAGGTAGGTAAACTGAGGCTCTGATGGGGGAAATGTCCCGTCCAGATCATGAGCCAGGGGCAGAGCCAGGACTGGGCCCGGGGCTGTGCTCTTACCCAGACCCCAGTGATTTTGCAGCTGTCTCATGGAACCCTCAGGTTTCTGAGGAGTCTTCTTCCTAGACCCAAGCCCCCGACTCTGACTCAACCTGCACGATTGTCTTTTCATCTGTTTTACATGTGGAGATTCCATGAAAGGTTTAGTTCAAAGGAAGGTTCTGCTGTCAAAACATTTTGTAAACCAGAAGGGGAAGGAGTGCCGTGCGGAAGCTCCCCTTCCCTGGTTTTTGTGGCCCAGGCCCTCTGTGGCTTGTTTCTGATCACAGGGCCTGCTCTCCATAGAGCCCCCACTATAAAGGGTGACCTTGAGTGTGACACTGCAGGCAGGGACAAACTCATTCATTCCTCAAGCGATTGCTGTGATTCTGTAAGCCAGCCCTGTTGCTGGGCATGATGGAGACACCAAGTCAGGTGTGGCTCCTGTCCACAGTCTGGGGGAAGCGAAGAGTGACAGAAGCAGAAAATGACAGCACAGAGCAATGGGGAGTAGGAGGAGGCAAAGCCTGAGGGCTTCCTGAAGGAGGTGTCCTCTGGGCGGGGCACATCCTGGCCCAAACAGGCTAGAGAGGGGAGAGAGGTGGATACTACCCAGTGGGAGGGGCTCGGGGAGAGCCAGCCCCCACGGCGCACACTTCTGTTTCCCCAGGCTCCCTACACACCCCTCCAAGAAGAGGAAGCACTCTGAATCCCCCCCCAGCACCCTCAATGCCCAGATGCTGAATGGAATGATCAAACAGGAGCCTGGGACCGTGACAGCCCTGCCTCTGCACCCCACTCGAGCCCCATCGCCACCCTGGCCTCCCCAGGGTCCGCTCTCCCCGGGCCCTGGTTCCTTGCCTCTCAGCATTGCCCGTGTCCAGACACCGCCTTGGCACCCGCCAGGTGCCCCCTCCCCAGGTACATGGCTGGCCAACTCTTCAAGGTGGGGTGTGGGACCCAAGGTGCAGGGCCCACATGGGCGTTCCCTCCCTCCAGGCCTCCTGCAGGACAGTGACAGCCTCAGTGGCTCCTACCTGGACCCCAACTACCAGTCCATCAAGTGGCAGCCTCATCAGCAGAACAAGTGGGCGACCCTGTACGATGCTAACTACAAGGAGCTGTGAGTGCCCTACAACACTCCCCACTCCTCCAGGCCCCCCCACCTTGGGACGCCCCAGCCCAGGACCCCATCAAGGTCCTGGAGCAGGGCCTGGGAGCACTCATTTCACAGAAGAGCAAACAGGCTCAGGGAAGAGCCAGGACTGGCAGTCAGGGCTCCTGACTCCTAGGCCAGCCCCAGGCCTCCCTGAGAAGGTGATGACTGCCAGGGAGGGGCAGCTGGGAACCAAGTCAGGGAGAAGTGGGCAGATGGGTGTTTTTTCCCCCGGTTCCTCCTTCCCCACCTCCTCCCTCTGCATTCCAGGAAGGTAGCCGGAAGCTGAGCCCAAGCTGGGCCCTCCCGGCAGCCCCCTCCCTAGAGGGAGGGAGGAGGGGCTGGGGAGGATCCGGTCAGAGGCTGCCTGAGCATTCCTAGCACCCCCTCAACACCCAGATGGCTCCATCTTTCCAGGCCGCAGGCCGGGAGCCCTGTGGGGACCACTCCCCTGGCTCACCCAGAAGGCCAGTGGGCAGGTGACAGGGTAACTGTGGATATTGCCAGGCCTGGGCCAGTGGATTAGACCAGCTGCATGGAGTTGGGTGCTCCAGGCTTTGGGGGAATTCTTAGCCAGCAGTCCCAGGCCTGGGGGCATCTGGCTGCTGGGGTGGCTGAAGGGTCCCATGAAGTCCTGCCAGGTGGGGGTGCAGTCGTATGGCACTCCAGCCTCTCTGGCATGGGGAGGAAACCCCTTACTCTTACTGCCATACTCTTTGGGCCACCCTTGCCACCCCAGGCCCCAAGGCCAGGAAGCTTGGCAGCTGCAGCCCCGGAAGTGGCCCAGGCACTTCCTGGGTGCTTTGCTAGGTCAGGCAGGTGGGTGGAGCTCCAGGAGGGAAGAGGTGGTGAGCCCAGGCCTTTGGCAACACTGGCCAGGCCCAGAGGCCTCTTCCCACAAGTTTGGAAGCATTCTCCCTGCCCAGCTTCCGCCAGGCCAGCACTGGGCACTCCTGTGACCACTCTTGTGCCTGGGGACCTGAGTGAGGGTGCGCTAAGCCACAGGCCAACAGTTGCTCTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCTGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGGCTGATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCATGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCAGTTGCTCTTTTTACTGTCAACTAGAGGTGTCTCAAAGGGGCCAAACATGGGACACTAAACCCAGCAACAGATGGGCAAACTGAGGCTGAGTCTGAGGGAGAGTCCAGGAGTGCCCCTTCCCTCCCCGGGCAGACGGAGGGAGTAGGAATGAGGAGGGAGTGGGAATGAGGGCATCTGGGGGCTTGAGCAAGCCGGTGGGCAGGGGCTGGGTCTGCAGCAGAGCAGGCGCCTGGTTCCACCGTTTCCAGGGCAACTAGCTGTCAGGCGCTGTGAGGCTCTGCAGACACAGTCCCTCTCG | GGGGAGCCTGGCCCTGCCTCTGAGCAAGTATCCCCGCGGTGATGCCACCCGCCTGCCCGCCTGCGCCATCATGGACGCACCCTTCGGCGGTAAGTGGGTGGCTGGGGAAGGCCGTGGGTGCAGCCTGGGTGCAGGCTTCCCAGGCCGGGCCCACCTCACCTTAGAGGGTGCTCAGGGGTGCCCTGGCCCCCAGGTGGCCAAGAGCAGAACCACCGCGGGAGCAGGCTCCCCGCAGTCCGGATTGGGGTCAAGAGTTCTGTTTATCTTACCAAAAACATCCCTGGAATGCCTCCTGGGGAACAAAGGGAGCTGGGGCCTCCCCGCTCAGGCTGGGGGGCTGGCCCCTGAGAGCCCAGAAGAGGGACTGCCTGCCGGAGAGGGGAACACTGGGCAGGCCTGGGCTGGGGGTCTCCGGAGACGCCTTCCTGAGGCCCAGAGGAGGAGCAGGCCTCAGAGGAGATGGGGACGGAGGGGGACCTTTAGATTTGGGTTGGATTCTCCTGGTCCAGCCTGGGGGCAGGAGGTGGCTAGGATGAGGTGAAAGGCTGCCCCTCCTTGGGCAGGTTTGTGCCTCCCTGCCCAGGCCTCTAGTAGGTGGCTGACCAACGGCCCTCCCACCTAGGGTAGGTGGGGGGCAGCCCCCGGGCTTGGCTCAGGACGGGGTGGAAGCAGGAGACTCTGCCTTGGGGAGGACAGTGCCCAGGAGCCTGAGTGAGGTTGGTCTCAGATGCCCGCTCCCCCATCTCTCCTGCAGAGCCCCACCTCCTGCGCACGATAACCCCTGAGACACTGTGCCACGTGGGAGTGCCCTCCCGCCTGGAGCATCCGCCCCCACCTCCAGCCCACTTGCCAGGCCCCCCGCCACCCCCACCACCCCCACCTCACTACCCTGTCCTGCAGCGGGATCTGTACATGAAGGCCGAGCCCCCGATCCCCCACTACGCTGCCATGGGGCAGGGGCTGGTGCCCACTGATCTTCACCACACCCAGCAGTCCCAGATGCTGCACCAGCTCCTGCAGCAGCACGGAGCTGAGTAAGACGTGGGTGGCTGGCTCCATGGGGTGGGAAGGTGGGGTACAGGGACCAGGGTGGGCAGGGCGGCGGGCAGGCCAGAGAGGGAGGTAGGGACCGGGATGCACCCAGGGAGGGCAGAAGGCTCTGCAGGGCAGATGGGGGTAACATATTTATACATGTTTACCCAGCAATACCTTGAGGGGTTTACAGCCATGGCTAATTGCTCACAACTACCTTATCTGGTGGGCACAGGTAGGTAAACTGAGGCTCTGATGGGGGAAATGTCCCGTCCAGATCATGAGCCAGGGGCAGAGCCAGGACTGGGCCCGGGGCTGTGCTCTTACCCAGACCCCAGTGATTTTGCAGCTGTCTCATGGAACCCTCAGGTTTCTGAGGAGTCTTCTTCCTAGACCCAAGCCCCCGACTCTGACTCAACCTGCACGATTGTCTTTTCATCTGTTTTACATGTGGAGATTCCATGAAAGGTTTAGTTCAAAGGAAGGTTCTGCTGTCAAAACATTTTGTAAACCAGAAGGGGAAGGAGTGCCGTGCGGAAGCTCCCCTTCCCTGGTTTTTGTGGCCCAGGCCCTCTGTGGCTTGTTTCTGATCACAGGGCCTGCTCTCCATAGAGCCCCCACTATAAAGGGTGACCTTGAGTGTGACACTGCAGGCAGGGACAAACTCATTCATTCCTCAAGCGATTGCTGTGATTCTGTAAGCCAGCCCTGTTGCTGGGCATGATGGAGACACCAAGTCAGGTGTGGCTCCTGTCCACAGTCTGGGGGAAGCGAAGAGTGACAGAAGCAGAAAATGACAGCACAGAGCAATGGGGAGTAGGAGGAGGCAAAGCCTGAGGGCTTCCTGAAGGAGGTGTCCTCTGGGCGGGGCACATCCTGGCCCAAACAGGCTAGAGAGGGGAGAGAGGTGGATACTACCCAGTGGGAGGGGCTCGGGGAGAGCCAGCCCCCACGGCGCACACTTCTGTTTCCCCAGGCTCCCTACACACCCCTCCAAGAAGAGGAAGCACTCTGAATCCCCCCCCCAGCACCCTCAATGCCCAGATGCTGAATGGAATGATCAAACAGGAGCCTGGGACCGTGACAGCCCTGCCTCTGCACCCCACTCGAGCCCCATCGCCACCCTGGCCTCCCCAGGGTCCGCTCTCCCCGGGCCCTGGTTCCTTGCCTCTCAGCATTGCCCGTGTCCAGACACCGCCTTGGCACCCGCCAGGTGCCCCCTCCCCAGGTACATGGCTGGCCAACTCTTCAAGGTGGGGTGTGGGACCCAAGGTGCAGGGCCCACATGGGCGTTCCCTCCCTCCAGGCCTCCTGCAGGACAGTGACAGCCTCAGTGGCTCCTACCTGGACCCCAACTACCAGTCCATCAAGTGGCAGCCTCATCAGCAGAACAAGTGGGCGACCCTGTACGATGCTAACTACAAGGAGCTGTGAGTGCCCTACAACACTCCCCACTCCTCCAGGCCCCCCCACCTTGGGACGCCCCAGCCCAGGACCCCATCAAGGTCCTGGAGCAGGGCCTGGGAGCACTCATTTCACAGAAGAGCAAACAGGCTCAGGGAAGAGCCAGGACTGGCAGTCAGGGCTCCTGACTCCTAGGCCAGCCCCAGGCCTCCCTGAGAAGGTGATGACTGCCAGGGAGGGGCAGCTGGGAACCAAGTCAGGGAGAAGTGGGCAGATGGGTGTTTTTTCCCCCGGTTCCTCCTTCCCCACCTCCTCCCTCTGCATTCCAGGAAGGTAGCCGGAAGCTGAGCCCAAGCTGGGCCCTCCCGGCAGCCCCCTCCCTAGAGGGAGGGAGGAGGGGCTGGGGAGGATCCGGTCAGAGGCTGCCTGAGCATTCCTAGCACCCCCTCAACACCCAGATGGCTCCATCTTTCCAGGCCGCAGGCCGGGAGCCCTGTGGGGACCACTCCCCTGGCTCACCCAGAAGGCCAGTGGGCAGGTGACAGGGTAACTGTGGATATTGCCAGGCCTGGGCCAGTGGATTAGACCAGCTGCATGGAGTTGGGTGCTCCAGGCTTTGGGGGAATTCTTAGCCAGCAGTCCCAGGCCTGGGGGCATCTGGCTGCTGGGGTGGCTGAAGGGTCCCATGAAGTCCTGCCAGGTGGGGGTGCAGTCGTATGGCACTCCAGCCTCTCTGGCATGGGGAGGAAACCCCTTACTCTTACTGCCATACTCTTTGGGCCACCCTTGCCACCCCAGGCCCCAAGGCCAGGAAGCTTGGCAGCTGCAGCCCCGGAAGTGGCCCAGGCACTTCCTGGGTGCTTTGCTAGGTCAGGCAGGTGGGTGGAGCTCCAGGAGGGAAGAGGTGGTGAGCCCAGGCCTTTGGCAACACTGGCCAGGCCCAGAGGCCTCTTCCCACAAGTTTGGAAGCATTCTCCCTGCCCAGCTTCCGCCAGGCCAGCACTGGGCACTCCTGTGACCACTCTTGTGCCTGGGGACCTGAGTGAGGGTGCGCTAAGCCACAGGCCAACAGTTGCTCTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCTGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGGCTGATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCATGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCAGTTGCTCTTTTTACTGTCAACTAGAGGTGTCTCAAAGGGGCCAAACATGGGACACTAAACCCAGCAACAGATGGGCAAACTGAGGCTGAGTCTGAGGGAGAGTCCAGGAGTGCCCCTTCCCTCCCCGGGCAGACGGAGGGAGTAGGAATGAGGAGGGAGTGGGAATGAGGGCATCTGGGGGCTTGAGCAAGCCGGTGGGCAGGGGCTGGGTCTGCAGCAGAGCAGGCGCCTGGTTCCACCGTTTCCAGGGCAACTAGCTGTCAGGCGCTGTGAGGCTCTGCAGACACAGTCCCTCTC | pathogenic | 176,645 |
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