question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2 values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
A mutation at chromosome position 47335910 on chromosome 11 in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cardiovascular_phenotype'] | ATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTT | ATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCT | pathogenic | 175,448 |
Does the variant on chromosome 11 at location 47335940 affecting gene MYBPC3 (myosin binding protein C3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hypertrophic_cardiomyopathy'] | CTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTC | CTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTT | pathogenic | 175,453 |
A genetic variant on chromosome 11, position 47335943, affects the gene MYBPC3 (myosin binding protein C3). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy_4'] | GGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACT | GGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCAC | pathogenic | 175,454 |
A genetic alteration at chromosome 11, position 47335971, in gene MYBPC3 (myosin binding protein C3)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | TGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGA | TGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAAC | pathogenic | 175,458 |
The mutation impacting MYBPC3 (myosin binding protein C3) on chromosome 11 at position 47336003: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hypertrophic_cardiomyopathy'] | GACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTC | GACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGT | pathogenic | 175,465 |
Does the chromosome 11 mutation at position 47336003 within gene MYBPC3 (myosin binding protein C3) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | GACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTC | GACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCN | pathogenic | 175,466 |
Evaluate this variant at chromosome 11, position 47336009, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | CTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCT | CTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGCCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTN | pathogenic | 175,467 |
Benign or pathogenic: chromosome 11, position 47337402, gene MYBPC3 (myosin binding protein C3) variant? Disease(s) if pathogenic? | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | TTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTC | TTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCA | pathogenic | 175,475 |
Mutation at chromosome 11, position 47337422, within MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | CTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTG | CTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGNNNNNNNNNNN | pathogenic | 175,477 |
Located at chromosome 11 position 47337434, the variant affecting gene MYBPC3 (myosin binding protein C3)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | GGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCA | GGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCAN | pathogenic | 175,479 |
Variant in gene MYBPC3 (myosin binding protein C3), located at chromosome 11 position 47337436: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Primary_familial_hypertrophic_cardiomyopathy'] | CATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACC | CATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCAGAATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCAC | pathogenic | 175,480 |
Variant in MYBPC3 (myosin binding protein C3), chromosome 11, position 47337436—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hypertrophic_cardiomyopathy'] | CATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACC | CATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCN | pathogenic | 175,481 |
A mutation at chromosome position 47337437 on chromosome 11 in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | ATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCC | ATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGAATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACC | pathogenic | 175,483 |
Gene MYBPC3 (myosin binding protein C3) variant at chromosome 11, position 47337442—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | CTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGA | CTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGAN | pathogenic | 175,484 |
Variant on chromosome 11, at position 47337454, affecting MYBPC3 (myosin binding protein C3): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | CAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCC | CAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCNNNNN | pathogenic | 175,492 |
Is the genetic mutation found on chromosome 11 at position 47337454, within the gene MYBPC3 (myosin binding protein C3), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | CAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCC 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CAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCNNNNNNN | pathogenic | 175,493 |
Is the genetic variant on chromosome 11, position 47337466, gene MYBPC3 (myosin binding protein C3), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hypertrophic_cardiomyopathy'] | CCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCC | CCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCN | pathogenic | 175,495 |
Variant in MYBPC3 (myosin binding protein C3), chromosome 11, position 47337468—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_1'] | CGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCC | CGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTAACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCC | pathogenic | 175,499 |
Benign or pathogenic: chromosome 11, position 47337481, gene MYBPC3 (myosin binding protein C3) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_10'] | TTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCT | TTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTN | pathogenic | 175,502 |
Clinical classification of chromosome 11, position 47337491, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | TCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGT | TCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTNN | pathogenic | 175,505 |
Regarding the variant at chromosome 11 and position 47337502, affecting gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Primary_familial_hypertrophic_cardiomyopathy'] | CGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCA | CGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGAACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGC | pathogenic | 175,508 |
Variant in gene MYBPC3 (myosin binding protein C3), located at chromosome 11 position 47337533: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Primary_familial_hypertrophic_cardiomyopathy'] | ACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCA | ACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCANNNNN | pathogenic | 175,513 |
Determine if the mutation at chromosome 11, position 47337541 in gene MYBPC3 (myosin binding protein C3) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | AATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAG | AATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGN | pathogenic | 175,517 |
Is the genetic change at chromosome 11, position 47337708, within gene MYBPC3 (myosin binding protein C3) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | CGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTAT | CGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCAATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTA | pathogenic | 175,524 |
Considering the variant on chromosome 11, location 47337720, 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', 'Hypertrophic_cardiomyopathy'] | AGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCA | AGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAN | pathogenic | 175,529 |
Variant in gene MYBPC3 (myosin binding protein C3), located at chromosome 11 position 47337729: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_10', 'MYBPC3-related_disorder', 'Primary_familial_hypertrophic_cardiomyopathy'] | ACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTG | ACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACCTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGT | pathogenic | 175,532 |
Gene MYBPC3 (myosin binding protein C3) variant at chromosome 11, position 47337768—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAG | GCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGN | pathogenic | 175,536 |
Chromosome 11, position 47337791, gene MYBPC3 (myosin binding protein C3): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Primary_familial_hypertrophic_cardiomyopathy'] | ACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAG | ACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACCGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGA | pathogenic | 175,539 |
For chromosome 11, position 47338516, gene MYBPC3 (myosin binding protein C3): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | TGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGA | TGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGANNNNNNNNNNNNNNNNNNNNN | pathogenic | 175,548 |
Clinical significance of chromosome 11, position 47338546, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | AAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGG | AAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGN | pathogenic | 175,553 |
Variant in gene MYBPC3 (myosin binding protein C3), located at chromosome 11 position 47338560: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | AACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGC | AACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCN | pathogenic | 175,556 |
A genetic variant at chromosome 11, position 47338569, affecting gene MYBPC3 (myosin binding protein C3)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | TAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCG | TAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCAACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCC | pathogenic | 175,557 |
Variant at chromosome 11, position 47338606, gene MYBPC3 (myosin binding protein C3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cardiovascular_phenotype'] | TGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGG | TGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGN | pathogenic | 175,562 |
Evaluate if the mutation on chromosome 11 at position 47338613 in MYBPC3 (myosin binding protein C3) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTC | GTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCN | pathogenic | 175,564 |
Gene MYBPC3 (myosin binding protein C3) variant at chromosome 11, position 47338669—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hypertrophic_cardiomyopathy'] | GACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAAT | GACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATNN | pathogenic | 175,574 |
Evaluate this variant at chromosome 11, position 47338680, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Primary_familial_hypertrophic_cardiomyopathy'] | CCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACAC | CCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACN | pathogenic | 175,577 |
Chromosome 11, position 47338681, gene MYBPC3 (myosin binding protein C3): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | CACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACA | CACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACAC | benign | 175,578 |
Is the chromosome 11, position 47338681 variant in MYBPC3 (myosin binding protein C3) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACA | CACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACAN | benign | 175,579 |
Variant in MYBPC3 (myosin binding protein C3), chromosome 11, position 47339358—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | CTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAG | CTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCA | pathogenic | 175,586 |
The mutation impacting MYBPC3 (myosin binding protein C3) on chromosome 11 at position 47339375: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Primary_dilated_cardiomyopathy'] | GCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTC | GCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCN | pathogenic | 175,589 |
Clinically, how would you classify the variant at chromosome 11, position 47339412, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | GGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAG | GGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAA | benign | 175,593 |
For chromosome 11, position 47339677, gene MYBPC3 (myosin binding protein C3): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | ACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCT | ACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTC | pathogenic | 175,602 |
A mutation at chromosome position 47339702 on chromosome 11 in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | CGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGT | CGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATCCACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTNN | pathogenic | 175,605 |
Variant at chromosome 11, position 47339718, gene MYBPC3 (myosin binding protein C3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_10'] | TCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCAT | TCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTCCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATN | pathogenic | 175,609 |
A genetic alteration at chromosome 11, position 47339767, in gene MYBPC3 (myosin binding protein C3)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTT | GGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGCCAGCCCTCCGTCAACCCTTTAAGGCTTCTCACTGCCCATATTCACCCCTGTCCTGGCTCTGATCCTCCCAACCCCACCCAGTCCTCTCCTGACATGTTTCATTCATTCTCCACACCCAAAAGGCCCTTTCCCTCCTCCACCCCTTTGTACACAGTTTCCTCTGCCTGGGATGCCTTTCCTCACCATCTTCTCAGCCTCCTAAAGGCATCACCCCCAGGCACAGGGATGGCTCTCTGCTCAGTGCTCCCACGGCACTCTGGACATGGCTCATGTACAGCAGTGTCGCAGGAAATCTGCTGGATGCATCTGCCTCCATCTCCCCCAGAGCGGGGCTCCTTTTGGGCAGAAAAACCTGTCCTGTTGCCGCTCGGCTCAGGGAGCATGCCCGTGATGTTTGTCGAGTGGCTGAATGAGCGAACGGATGGGCCCTCCTTGGGGCTGCCCCTCTGTGTTCTCCAGCTTGGACCCCGGCCGGCCTCACCGATGACCTTGACTGTGAGGTTGACCTGGTCCTCGCCCACAGGGTTCTTCACTGTGACCGTGTAGACGCCCTCATCTTCCTTCTCTGCCCCCTCGACCGTGAAGATGCTGCGGTCCTTGGTGGTCTCCACGCGGACCCGGCCCTCGGTCTCACACAGCAGCTGGGGGGGTGCAGAGTTGGGGTGAGATCCAAGTCAGACCCCAGAGGCCCTTGCAGCCTCCGCCAACAGCCAGATGTCCCGGGGGTCCATGGGGGGAACACAGCCTGTGGGAAGACTGCATCCACGTCAGCATCTAGTTCAAAATCATCTCTGTGGCACCGACTGAGGGCAGGGGCTCGGGTTCTAGCTTTGTCACGGGACCTGGGGCAACCACCTGTCCTCTCAGATGAGCTATCATGAGGACCCCTCAAGACCCCAGCCTTCAGAAGAACCAACAGTGCCAGGCAGGAGCAAGACCCCGGCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCATCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTN | pathogenic | 175,614 |
Regarding the variant found on chromosome 11 at position 47341029 in gene MYBPC3 (myosin binding protein C3): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCT | GCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTN | pathogenic | 175,632 |
Assess the variant on chromosome 11, position 47341139, impacting MYBPC3 (myosin binding protein C3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | CATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGAC | CATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCTGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACN | pathogenic | 175,637 |
Assess the variant on chromosome 11, position 47341142, impacting MYBPC3 (myosin binding protein C3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hypertrophic_cardiomyopathy'] | GAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACC | GAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCN | pathogenic | 175,638 |
Evaluate this variant at chromosome 11, position 47341144, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype'] | GGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCC | GGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAATGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCN | pathogenic | 175,639 |
Variant at chromosome 11, position 47341196, gene MYBPC3 (myosin binding protein C3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hypertrophic_cardiomyopathy_1'] | ACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCAT | ACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCA | pathogenic | 175,649 |
Determine if the mutation at chromosome 11, position 47341205 in gene MYBPC3 (myosin binding protein C3) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hypertrophic_cardiomyopathy'] | AGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGG | AGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCTGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGNNNNNNN | pathogenic | 175,652 |
Determine if the mutation at chromosome 11, position 47341206 in gene MYBPC3 (myosin binding protein C3) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | GACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGA | GACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAN | pathogenic | 175,653 |
Considering the variant on chromosome 11, location 47341212, 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; ['Hypertrophic_cardiomyopathy'] | CTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTAC | CTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACNN | pathogenic | 175,655 |
Considering the genetic mutation at chromosome 11, position 47341221, impacting MYBPC3 (myosin binding protein C3): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAG | GTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGT | pathogenic | 175,658 |
A genetic alteration at chromosome 11, position 47341228, in gene MYBPC3 (myosin binding protein C3)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cardiomyopathy'] | GGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAA | GGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAN | pathogenic | 175,660 |
A genetic variant on chromosome 11, position 47341234, affects the gene MYBPC3 (myosin binding protein C3). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | ACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCC | ACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCN | pathogenic | 175,662 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 47341242, gene MYBPC3 (myosin binding protein C3). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | CCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGT | CCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTN | pathogenic | 175,663 |
Clinical classification of chromosome 11, position 47341252, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Disease(s) if pathogenic? | benign | GCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACG | GCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAGTCTCTCCCATGGGGTAGCCAACAGCAGGGCGTGCACATGTGGGTGGGGTGTGCAGCAGGTCCTAGCACTTGGCTGGTTCCACACACCCATCTTATAGATGGGGAGACTGAGGAGGGACCCACAGTACCTGCGTGATAGCCTTCTGCCAGATCACAGTGGGAGCAGGGTCCCCAGAGATAGGGACGTCCAGACGTAGCTTATTTCCAGCTACAACCACAATGGTGTCTGGTATGCGGCCTGGGCAGTCCAGGTGGATCTTGGGAGGTTCTGCAGAAGACACAATGTAGTTCAGAGAAACGGGAGAGCCAGGAGGAGCACAGGTCACTGGGGCGGGGCTGCTCAAGAGCCTGGGCCCCTGGTTATTGGTTTTTTAGATTTGTATTGAGGTATAGTTTATGCTCAGATCTGACAGTAGGCTGAGTTCTGACAGATGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGAGGGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACG | benign | 175,666 |
Benign or pathogenic: chromosome 11, position 47342003, gene MYBPC3 (myosin binding protein C3) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Primary_familial_hypertrophic_cardiomyopathy'] | TGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAA | TGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGCACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAN | pathogenic | 175,674 |
Variant at chromosome position 47342003, chromosome 11, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | TGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAA | TGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAANN | pathogenic | 175,675 |
Is the chromosome 11, position 47342025 variant in MYBPC3 (myosin binding protein C3) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | AATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGG | AATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAT | pathogenic | 175,679 |
Is the variant located on chromosome 11 at position 47342046, gene MYBPC3 (myosin binding protein C3), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hypertrophic_cardiomyopathy'] | ATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGT | ATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTN | pathogenic | 175,681 |
A mutation at chromosome position 47342050 on chromosome 11 in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | CCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCT | CCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTNN | pathogenic | 175,683 |
Variant at chromosome position 47342079, chromosome 11, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hypertrophic_cardiomyopathy'] | TTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTC | TTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCNN | pathogenic | 175,689 |
The mutation in gene MYBPC3 (myosin binding protein C3) at chromosome 11, position 47342102—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | CTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCT | CTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTN | pathogenic | 175,692 |
Mutation found at chromosome 11 position 47342138, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Primary_familial_hypertrophic_cardiomyopathy'] | GTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGAT | GTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATNN | pathogenic | 175,699 |
Does the variant on chromosome 11 at location 47342140 affecting gene MYBPC3 (myosin binding protein C3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | CTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTG | CTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGATCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGNNNNNNNN | pathogenic | 175,700 |
A genetic variant at chromosome 11, position 47342558, affecting gene MYBPC3 (myosin binding protein C3)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | AAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTG | AAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGN | benign | 175,704 |
Is the genetic mutation found on chromosome 11 at position 47342563, within the gene MYBPC3 (myosin binding protein C3), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTC | TAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCTCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGT | benign | 175,706 |
The mutation impacting MYBPC3 (myosin binding protein C3) on chromosome 11 at position 47342579: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | GTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAG | GTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCA | pathogenic | 175,715 |
Regarding the variant found on chromosome 11 at position 47342586 in gene MYBPC3 (myosin binding protein C3): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hypertrophic_cardiomyopathy'] | GCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTA | GCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGGTGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAG | pathogenic | 175,716 |
Benign or pathogenic: chromosome 11, position 47342606, gene MYBPC3 (myosin binding protein C3) variant? Disease(s) if pathogenic? | pathogenic; ['Hypertrophic_cardiomyopathy_4'] | TCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACC | TCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGAC | pathogenic | 175,719 |
Does the variant on chromosome 11 at location 47342606 affecting gene MYBPC3 (myosin binding protein C3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | TCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACC | TCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCN | pathogenic | 175,720 |
Is the genetic variant on chromosome 11, position 47342607, gene MYBPC3 (myosin binding protein C3), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | CAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCT | CAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 175,721 |
Clinical classification of chromosome 11, position 47342621, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | AGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTT | AGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTNNNNNNN | pathogenic | 175,727 |
Considering the genetic mutation at chromosome 11, position 47342686, impacting MYBPC3 (myosin binding protein C3): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_1', 'Hypertrophic_cardiomyopathy_4', 'MYBPC3-related_disorder'] | GCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTT | GCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTNNN | pathogenic | 175,740 |
Considering the variant on chromosome 11, location 47342697, 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; ['Hypertrophic_cardiomyopathy'] | AGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAAT | AGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATN | pathogenic | 175,742 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 47342842, gene MYBPC3 (myosin binding protein C3): what disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTC | GCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTT | pathogenic | 175,764 |
Evaluate if the mutation on chromosome 11 at position 47342882 in MYBPC3 (myosin binding protein C3) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Isolated_Noncompaction_of_the_Ventricular_Myocardium'] | GCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATT | GCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTN | pathogenic | 175,771 |
A mutation at chromosome position 47342902 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_1', 'Hypertrophic_cardiomyopathy_4'] | ACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGC | ACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCAT | pathogenic | 175,775 |
Determine if the mutation at chromosome 11, position 47342909 in gene MYBPC3 (myosin binding protein C3) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | GTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTA | GTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAN | pathogenic | 175,776 |
Assess the variant on chromosome 11, position 47342927, impacting MYBPC3 (myosin binding protein C3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_1'] | GAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAG | GAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGN | pathogenic | 175,780 |
Gene mutation in MYBPC3 (myosin binding protein C3) at chromosome 11, position 47342928—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy_4'] | AAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGA | AAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAG | pathogenic | 175,781 |
A genetic variant on chromosome 11, position 47342928, 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'] | AAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGA | AAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAN | pathogenic | 175,782 |
Gene mutation in MYBPC3 (myosin binding protein C3) at chromosome 11, position 47342928—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | AAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGA | AAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGANN | pathogenic | 175,783 |
Gene MYBPC3 (myosin binding protein C3) variant at chromosome position 47343041 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hypertrophic_cardiomyopathy'] | CAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGC | CAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCN | pathogenic | 175,798 |
Does the variant on chromosome 11 at location 47343061 affecting gene MYBPC3 (myosin binding protein C3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hypertrophic_cardiomyopathy'] | TACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTAC | TACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCCGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACN | pathogenic | 175,801 |
Regarding the variant at chromosome 11 and position 47343089, affecting gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCC | GAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCNNNNNNNNNNNNNN | pathogenic | 175,809 |
Is chromosome 11, position 47343135, gene MYBPC3 (myosin binding protein C3) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCT | GGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCC | pathogenic | 175,817 |
Variant at chromosome 11, position 47343135, gene MYBPC3 (myosin binding protein C3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCT | GGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTNN | pathogenic | 175,818 |
Is chromosome 11, position 47343540, gene MYBPC3 (myosin binding protein C3) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hypertrophic_cardiomyopathy'] | AGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCA | AGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCAN | pathogenic | 175,843 |
Considering the genetic mutation at chromosome 11, position 47343546, impacting MYBPC3 (myosin binding protein C3): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Primary_familial_hypertrophic_cardiomyopathy'] | TGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAG | TGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGN | pathogenic | 175,845 |
A mutation at chromosome position 47343546 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', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_10', 'Primary_familial_hypertrophic_cardiomyopathy'] | TGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAG | TGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGNNNNNNNNNNNNNNNN | pathogenic | 175,846 |
A mutation at chromosome position 47343552 on chromosome 11 in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | TCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCT | TCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCC | pathogenic | 175,847 |
Is the genetic change at chromosome 11, position 47343586, within gene MYBPC3 (myosin binding protein C3) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | CAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCC | CAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCN | pathogenic | 175,852 |
A genetic variant on chromosome 11, position 47343594, affects the gene MYBPC3 (myosin binding protein C3). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cardiovascular_phenotype'] | TTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGA | TTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGG | pathogenic | 175,853 |
Is the genetic variant on chromosome 11, position 47343607, gene MYBPC3 (myosin binding protein C3), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Cardiovascular_phenotype'] | GAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCC | GAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCT | pathogenic | 175,855 |
Chromosome 11, position 47346212, gene MYBPC3 (myosin binding protein C3): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hypertrophic_cardiomyopathy'] | TCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGC | TCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTG | pathogenic | 175,867 |
Is the chromosome 11, position 47346238 variant in MYBPC3 (myosin binding protein C3) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | TTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCT | TTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTN | pathogenic | 175,871 |
Classify the chromosome 11 variant at position 47346254 affecting gene MYBPC3 (myosin binding protein C3) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy', 'Left_ventricular_noncompaction'] | AGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGG | AGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCAATTTGCTCTTTTTACTGTTGTTGCTATTCCTGGAAGACACCCCTACCCTCGGAGGTCCCCATCTGCCTTGCCAGCCTCCATCTTTTCCTCCTTGGGCACCTACAGTCCTTTGCTTGGTGCCCTCTGGGCTCAGCAGTTCAGGAGTTAACCCAGAGGAACATTGGTGGCATTCAGGGGATCCCTGGCTTAAATGGGGCCACGGTGCCGGTAAGGGCCAGGCCACCTAGCGATGGGGTGATGGGAAACCCAGTGAGGCTGAGACAACAGGGAGGCAGGGCAGAGGGATAAGGGGCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTCTCCCCTCTGAGGAAGGGCTAACCTGTGCTCTTCTTCTCATCGCGCCTCATGCCCTTGAGCCTCTTTAGCATGCCGTGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCTGCCGTAGGATCTCCCACACGTCCTCCTCTGCTGGTGCCTCCAGCTTCGAGTCCCTGTGTCCCGCAGTCTAGGCTGTGGCCGGGGGCAAGACTGCAGCCCCCTGGGCGGGGCTTCCTGGGCCCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGC | pathogenic | 175,872 |
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