Datasets:
wanglab
/
variant_effect_non_snv

Dataset card Data Studio Files
xet
Community
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
Variant on chromosome 11, at position 36593025, affecting RAG2 (recombination activating 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Combined_immunodeficiency_with_skin_granulomas', 'Histiocytic_medullary_reticulosis', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive']
ATAGAAAAAAAAATCAAAGTGGAGTGATCCTGAAAAAATTAGTTTAATTTTGCCGTTATTTAGGTAACATATCTTAATAATTAGAGTAAATCAATATAAATAGAAGATTTTTATATTTTATTATTTTTATATAGGTGATGGAAACAACAAAAGATCAAATCAATGTGCAACAATTGTTCAACAGGAATATTCAGCGAGCAACATTATTGAAACAGAGTGAATATGATTCAGTTTATCAAAGTTAATTTCAGTATCTGGGGACATGGAACTTTCAGCAGAAGAACTTGTACTCCAGCGTTTCATCTCTTGCATAATTCATGTTTCCCGTAAATTTGTTAGTTGTACCTTACACACTGTAGACTTTCAGTGAGGAGTAAGAGTCTTCACTGTAACTGTGGCTGAAGCTCTTAAGATAAGGTTTTTCCAGAAAATTTTTTTTTCCGGAAAATATTTCAGGAGGAAAGACATTTGTTTCTAAGGTCATCTAGTTATCAACTGATGTCTTGAACCCTTAAAATTAACAGTCATTTTAACTAGTTTCATCCTAGCGAGTGTCTAATTAGACCTTGGCAAGATCACTGATTTTATAATATTCACTGGCAGCAATCTCCACATGTTAACTACACACACACACACACACACACACACACTCACACAAATACATTTCTTTTCCTCCATTTAAATCTTCTGCCTGTAAATGTCATGAAATTCTTTAAACTTACATTATTTTGGGAAATAATATTATTCTTCTCCATGAGATTTATTTGGTGGTCCTTTCTTATTGTATTCTTACTCACTTCCTTTTTCCAGAGTACTAAGTAGCAATGGGCTCCAGTTTTCCATGAAAATTCTCACAAATAATTAGTTCAAATGACTGACTTTGGCACATCATTCATGCATCATATAATGGGGAGGGGAAATCCTTAAAGAAAATGCATACAAGTAATTCAGGAAAACATGTCAAACTTGATGTAGATTATTTATTTCTTCTTTTGTGTCAGTGGAGAACATTATCTATCTATATGTATACATATATTTATATTTATATCTACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTCAGTGAAGAATAAATTAGTAAATTGAGTATTTGGGTAAAATATTTTCAAAATGTATAGGGTCTAGAATGACTTTATTTATCATTGCATTATAAACACTTTTTTCTGGCCCTTAATTCATGTAACTAAAAGAAAACATAGGCATTTTAAATAAACAAAAATGTATTTTTAAAATCAATGTTATGATTTTAAAAATAGATTCAAAAATTCCATACACCTGAATCTGAAAGGCTTTTGCAAAACTAATCAAACAACCTTCTAAGAAAGGATTTCTTGGCAGGAGTCAAGATTTTTCCAGAACCTTTTTTACGGAGGGATTTCATTGGAGGCTTTTTTAAGGGTAGGACTCTTTGGGGAGTGTGTAGAGCTCTTGCTATCTCCACATGCTCATTGCAGTAATACTTGTTGCTTCCTGCTGACAGATGGATGAGTGTGCGTTCTGCCAGATCCATGCACTGAGCATGGACCCAGTGCCCATCCCCATGAGAGCAGTAGATCATGGCGGGTTTGTTGAGCTCAGTTGAATAGAATGGTACCCAAGTGTTGATATCCACATCACAAGTAGGGCAGCATGTAATCCAGTAGCCTGTCTCAGACTCATCTTCTTCATCATCTTCATTATAGGTGTCAAATTCATCATCACCATCAAAACTATTTGCTTCTGCACTGAAACAAAATTCTTCAGAGTCTTCAAAGGGAGTGGAATCCCCTGGATCTTCTGTTGATGTTTGACTGTTTGTGAATGTTGTCTGCTCTTCATTAGTATCATCTTCAGCACATTTCAACATATAGAAATAGAATCCTTCTGAAACAACTTGTTTATTGTCTCCTGGTATGCCAAGAAAAACAGTTCCATTTCCCATGTTGCTTCCAAACCATATCTTGCTGTGCTTAATGTCTGGGGTCCAATCTGGGGTCTCCATCTCACGAATTTCTATCTTGTTGTCCTCTAAAGAGATGATGTTGCAGATCATTCTTTTTTGATTTTCAAGCTGATAGCCACCAACAATAACAAATTCATCATTGTTAGTTTGAGTCAGGATTGCACTGGAGACAGAGATTCCTCCTGGCAAGACTGTGCAATTCACAGCTGGGCTACCCAGGGGAAGATCAACCCTTATTCTGTACAGGTTGGCAGGCCGGATATTATTGGCAAGTGAATGTCCTCCTAAAATATAGATGGTGTCATTTTTGGCAATAGAGACATGAAAAGATAGCCCATCCTGAAGTTCTGGAAGAATGTATGATGTAGCACACCCAAATTCAAAATCCACCAGGAAAACACAGGGCAGGCAGTCAGCTACACTATTCCATTTTTCTGTGGTTCTGTGGGTAGAAGGCATGTATGAGCGTCCTCCAAAGAGAACACCCATACTTTTCCCTCGGCTGTACACCACATTAATGGAATGACCATATCTGGCTTCAGGAACATCTCCTACCAAGTCTTTCTCTGTGCAGCGAAAAGTAACCTTTTTGTTGTTCTTGCAAACAATAGACATGACATAAATCTTATCTGAAACCTCATTGTTTGGTGTTTTCCCTCCATGGATGATGTATTGATGCTTTTCAGACTCCAAGCTGCCTTTGAATGTGCAAGTGGCTGGGTAGCGAAGAGGAGGGAGGTAGCAGGAATCCTTAGAGAAAATTGTAGGCTTCAGTTTGACATGGTTATGCTTTACATCCAGATGGAAAACTCCAGTGGGGCAGGATCTTTTGGGCCAGCCTTTTTGTCCAAAGAAGAAAACTTGTCCATCAAAATTCATCAGTGAGAAGCCTGGCTGAATTAAGGCTATGTTATTACTGACTGTTACCATCTGCAGAGACATAGTTTCTGATGGTACGTAGATTTTTGTCTGAAAGAATTATAAAATAAAATGACTTAGAGATCGCTTCATATAATCATCGTATTTAGATTCCTTCACATGTGAATAGCATTTTTTTAAGTCCTCCCACACGCTTGCAGTGGGACTGAATGAGGAAAATCCAAGGAGTTAGGTCAGTAAAGAGCCACAGAACCTTTACTGCCATTCCATCCAAGGAGCTGGGACATGTTTTAGCCACGGACTATATGCTCCCTAGGATTTCTGGGAATTGTAGTCCTTTTCCGTAAAGAGTCACCATGCGTCAGCTGAAAGAACCACATTTCCCAAGAATCCGTTCTCTCTGGGATGTGTAGCTTTGGAAATCTGTCTTTGTTGCTCTGGGAGAGGGGACTCCTGGAATGTGTCTGTGAATAAAGACTAGCCGAAGGTGCGAAGTGACTAGACGGGAGCAAAGGAGGAAAACTAGGGAATGGGAGGTGAGAGTGGCTGACACCGACCCAACGTCCGGGTTGCCGGAAGGCTGCAGCGCCCGGAGCGGTGTCGGGCAAACCGCTACCCTGGTATTGCTGGAGCCTCTCCTGGGGACTTTTGAACAGGTGACCCGATAGGAAGCACAACTGCTTCTGTTGGAGTGCGGTTACCTGGAGACCGCAGTCTGAAGGGACTCCCGGCAGAGATGTCGTTACGGTGTCCTGCCTGTCTGGATGCTTAGGAGCGCGACTCAAAACTACACCCCTGACGACCCTGGAGGTGCTTGGGGCGGGAGGTTGAAGGGGGCACCGAGGTTACAAAAGCCGTGACTGTCTTACAGAACCGAAAGATGGATCTTTGAATCCCTAGAGTGCAGGGGAGACATTGCCTGTTAAAGATGTTTACCACTTCTACATTTAGTAATAGAAATACAGTT
ATAGAAAAAAAAATCAAAGTGGAGTGATCCTGAAAAAATTAGTTTAATTTTGCCGTTATTTAGGTAACATATCTTAATAATTAGAGTAAATCAATATAAATAGAAGATTTTTATATTTTATTATTTTTATATAGGTGATGGAAACAACAAAAGATCAAATCAATGTGCAACAATTGTTCAACAGGAATATTCAGCGAGCAACATTATTGAAACAGAGTGAATATGATTCAGTTTATCAAAGTTAATTTCAGTATCTGGGGACATGGAACTTTCAGCAGAAGAACTTGTACTCCAGCGTTTCATCTCTTGCATAATTCATGTTTCCCGTAAATTTGTTAGTTGTACCTTACACACTGTAGACTTTCAGTGAGGAGTAAGAGTCTTCACTGTAACTGTGGCTGAAGCTCTTAAGATAAGGTTTTTCCAGAAAATTTTTTTTTCCGGAAAATATTTCAGGAGGAAAGACATTTGTTTCTAAGGTCATCTAGTTATCAACTGATGTCTTGAACCCTTAAAATTAACAGTCATTTTAACTAGTTTCATCCTAGCGAGTGTCTAATTAGACCTTGGCAAGATCACTGATTTTATAATATTCACTGGCAGCAATCTCCACATGTTAACTACACACACACACACACACACACACACACTCACACAAATACATTTCTTTTCCTCCATTTAAATCTTCTGCCTGTAAATGTCATGAAATTCTTTAAACTTACATTATTTTGGGAAATAATATTATTCTTCTCCATGAGATTTATTTGGTGGTCCTTTCTTATTGTATTCTTACTCACTTCCTTTTTCCAGAGTACTAAGTAGCAATGGGCTCCAGTTTTCCATGAAAATTCTCACAAATAATTAGTTCAAATGACTGACTTTGGCACATCATTCATGCATCATATAATGGGGAGGGGAAATCCTTAAAGAAAATGCATACAAGTAATTCAGGAAAACATGTCAAACTTGATGTAGATTATTTATTTCTTCTTTTGTGTCAGTGGAGAACATTATCTATCTATATGTATACATATATTTATATTTATATCTACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTCAGTGAAGAATAAATTAGTAAATTGAGTATTTGGGTAAAATATTTTCAAAATGTATAGGGTCTAGAATGACTTTATTTATCATTGCATTATAAACACTTTTTTCTGGCCCTTAATTCATGTAACTAAAAGAAAACATAGGCATTTTAAATAAACAAAAATGTATTTTTAAAATCAATGTTATGATTTTAAAAATAGATTCAAAAATTCCATACACCTGAATCTGAAAGGCTTTTGCAAAACTAATCAAACAACCTTCTAAGAAAGGATTTCTTGGCAGGAGTCAAGATTTTTCCAGAACCTTTTTTACGGAGGGATTTCATTGGAGGCTTTTTTAAGGGTAGGACTCTTTGGGGAGTGTGTAGAGCTCTTGCTATCTCCACATGCTCATTGCAGTAATACTTGTTGCTTCCTGCTGACAGATGGATGAGTGTGCGTTCTGCCAGATCCATGCACTGAGCATGGACCCAGTGCCCATCCCCATGAGAGCAGTAGATCATGGCGGGTTTGTTGAGCTCAGTTGAATAGAATGGTACCCAAGTGTTGATATCCACATCACAAGTAGGGCAGCATGTAATCCAGTAGCCTGTCTCAGACTCATCTTCTTCATCATCTTCATTATAGGTGTCAAATTCATCATCACCATCAAAACTATTTGCTTCTGCACTGAAACAAAATTCTTCAGTCTTCAAAGGGAGTGGAATCCCCTGGATCTTCTGTTGATGTTTGACTGTTTGTGAATGTTGTCTGCTCTTCATTAGTATCATCTTCAGCACATTTCAACATATAGAAATAGAATCCTTCTGAAACAACTTGTTTATTGTCTCCTGGTATGCCAAGAAAAACAGTTCCATTTCCCATGTTGCTTCCAAACCATATCTTGCTGTGCTTAATGTCTGGGGTCCAATCTGGGGTCTCCATCTCACGAATTTCTATCTTGTTGTCCTCTAAAGAGATGATGTTGCAGATCATTCTTTTTTGATTTTCAAGCTGATAGCCACCAACAATAACAAATTCATCATTGTTAGTTTGAGTCAGGATTGCACTGGAGACAGAGATTCCTCCTGGCAAGACTGTGCAATTCACAGCTGGGCTACCCAGGGGAAGATCAACCCTTATTCTGTACAGGTTGGCAGGCCGGATATTATTGGCAAGTGAATGTCCTCCTAAAATATAGATGGTGTCATTTTTGGCAATAGAGACATGAAAAGATAGCCCATCCTGAAGTTCTGGAAGAATGTATGATGTAGCACACCCAAATTCAAAATCCACCAGGAAAACACAGGGCAGGCAGTCAGCTACACTATTCCATTTTTCTGTGGTTCTGTGGGTAGAAGGCATGTATGAGCGTCCTCCAAAGAGAACACCCATACTTTTCCCTCGGCTGTACACCACATTAATGGAATGACCATATCTGGCTTCAGGAACATCTCCTACCAAGTCTTTCTCTGTGCAGCGAAAAGTAACCTTTTTGTTGTTCTTGCAAACAATAGACATGACATAAATCTTATCTGAAACCTCATTGTTTGGTGTTTTCCCTCCATGGATGATGTATTGATGCTTTTCAGACTCCAAGCTGCCTTTGAATGTGCAAGTGGCTGGGTAGCGAAGAGGAGGGAGGTAGCAGGAATCCTTAGAGAAAATTGTAGGCTTCAGTTTGACATGGTTATGCTTTACATCCAGATGGAAAACTCCAGTGGGGCAGGATCTTTTGGGCCAGCCTTTTTGTCCAAAGAAGAAAACTTGTCCATCAAAATTCATCAGTGAGAAGCCTGGCTGAATTAAGGCTATGTTATTACTGACTGTTACCATCTGCAGAGACATAGTTTCTGATGGTACGTAGATTTTTGTCTGAAAGAATTATAAAATAAAATGACTTAGAGATCGCTTCATATAATCATCGTATTTAGATTCCTTCACATGTGAATAGCATTTTTTTAAGTCCTCCCACACGCTTGCAGTGGGACTGAATGAGGAAAATCCAAGGAGTTAGGTCAGTAAAGAGCCACAGAACCTTTACTGCCATTCCATCCAAGGAGCTGGGACATGTTTTAGCCACGGACTATATGCTCCCTAGGATTTCTGGGAATTGTAGTCCTTTTCCGTAAAGAGTCACCATGCGTCAGCTGAAAGAACCACATTTCCCAAGAATCCGTTCTCTCTGGGATGTGTAGCTTTGGAAATCTGTCTTTGTTGCTCTGGGAGAGGGGACTCCTGGAATGTGTCTGTGAATAAAGACTAGCCGAAGGTGCGAAGTGACTAGACGGGAGCAAAGGAGGAAAACTAGGGAATGGGAGGTGAGAGTGGCTGACACCGACCCAACGTCCGGGTTGCCGGAAGGCTGCAGCGCCCGGAGCGGTGTCGGGCAAACCGCTACCCTGGTATTGCTGGAGCCTCTCCTGGGGACTTTTGAACAGGTGACCCGATAGGAAGCACAACTGCTTCTGTTGGAGTGCGGTTACCTGGAGACCGCAGTCTGAAGGGACTCCCGGCAGAGATGTCGTTACGGTGTCCTGCCTGTCTGGATGCTTAGGAGCGCGACTCAAAACTACACCCCTGACGACCCTGGAGGTGCTTGGGGCGGGAGGTTGAAGGGGGCACCGAGGTTACAAAAGCCGTGACTGTCTTACAGAACCGAAAGATGGATCTTTGAATCCCTAGAGTGCAGGGGAGACATTGCCTGTTAAAGATGTTTACCACTTCTACATTTAGTAATAGAAATACAGTTNN
pathogenic
174,641
Evaluate this variant at chromosome 11, position 36593309, gene RAG2 (recombination activating 2): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Combined_immunodeficiency_with_skin_granulomas', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive']
TTGTACTCCAGCGTTTCATCTCTTGCATAATTCATGTTTCCCGTAAATTTGTTAGTTGTACCTTACACACTGTAGACTTTCAGTGAGGAGTAAGAGTCTTCACTGTAACTGTGGCTGAAGCTCTTAAGATAAGGTTTTTCCAGAAAATTTTTTTTTCCGGAAAATATTTCAGGAGGAAAGACATTTGTTTCTAAGGTCATCTAGTTATCAACTGATGTCTTGAACCCTTAAAATTAACAGTCATTTTAACTAGTTTCATCCTAGCGAGTGTCTAATTAGACCTTGGCAAGATCACTGATTTTATAATATTCACTGGCAGCAATCTCCACATGTTAACTACACACACACACACACACACACACACACTCACACAAATACATTTCTTTTCCTCCATTTAAATCTTCTGCCTGTAAATGTCATGAAATTCTTTAAACTTACATTATTTTGGGAAATAATATTATTCTTCTCCATGAGATTTATTTGGTGGTCCTTTCTTATTGTATTCTTACTCACTTCCTTTTTCCAGAGTACTAAGTAGCAATGGGCTCCAGTTTTCCATGAAAATTCTCACAAATAATTAGTTCAAATGACTGACTTTGGCACATCATTCATGCATCATATAATGGGGAGGGGAAATCCTTAAAGAAAATGCATACAAGTAATTCAGGAAAACATGTCAAACTTGATGTAGATTATTTATTTCTTCTTTTGTGTCAGTGGAGAACATTATCTATCTATATGTATACATATATTTATATTTATATCTACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTCAGTGAAGAATAAATTAGTAAATTGAGTATTTGGGTAAAATATTTTCAAAATGTATAGGGTCTAGAATGACTTTATTTATCATTGCATTATAAACACTTTTTTCTGGCCCTTAATTCATGTAACTAAAAGAAAACATAGGCATTTTAAATAAACAAAAATGTATTTTTAAAATCAATGTTATGATTTTAAAAATAGATTCAAAAATTCCATACACCTGAATCTGAAAGGCTTTTGCAAAACTAATCAAACAACCTTCTAAGAAAGGATTTCTTGGCAGGAGTCAAGATTTTTCCAGAACCTTTTTTACGGAGGGATTTCATTGGAGGCTTTTTTAAGGGTAGGACTCTTTGGGGAGTGTGTAGAGCTCTTGCTATCTCCACATGCTCATTGCAGTAATACTTGTTGCTTCCTGCTGACAGATGGATGAGTGTGCGTTCTGCCAGATCCATGCACTGAGCATGGACCCAGTGCCCATCCCCATGAGAGCAGTAGATCATGGCGGGTTTGTTGAGCTCAGTTGAATAGAATGGTACCCAAGTGTTGATATCCACATCACAAGTAGGGCAGCATGTAATCCAGTAGCCTGTCTCAGACTCATCTTCTTCATCATCTTCATTATAGGTGTCAAATTCATCATCACCATCAAAACTATTTGCTTCTGCACTGAAACAAAATTCTTCAGAGTCTTCAAAGGGAGTGGAATCCCCTGGATCTTCTGTTGATGTTTGACTGTTTGTGAATGTTGTCTGCTCTTCATTAGTATCATCTTCAGCACATTTCAACATATAGAAATAGAATCCTTCTGAAACAACTTGTTTATTGTCTCCTGGTATGCCAAGAAAAACAGTTCCATTTCCCATGTTGCTTCCAAACCATATCTTGCTGTGCTTAATGTCTGGGGTCCAATCTGGGGTCTCCATCTCACGAATTTCTATCTTGTTGTCCTCTAAAGAGATGATGTTGCAGATCATTCTTTTTTGATTTTCAAGCTGATAGCCACCAACAATAACAAATTCATCATTGTTAGTTTGAGTCAGGATTGCACTGGAGACAGAGATTCCTCCTGGCAAGACTGTGCAATTCACAGCTGGGCTACCCAGGGGAAGATCAACCCTTATTCTGTACAGGTTGGCAGGCCGGATATTATTGGCAAGTGAATGTCCTCCTAAAATATAGATGGTGTCATTTTTGGCAATAGAGACATGAAAAGATAGCCCATCCTGAAGTTCTGGAAGAATGTATGATGTAGCACACCCAAATTCAAAATCCACCAGGAAAACACAGGGCAGGCAGTCAGCTACACTATTCCATTTTTCTGTGGTTCTGTGGGTAGAAGGCATGTATGAGCGTCCTCCAAAGAGAACACCCATACTTTTCCCTCGGCTGTACACCACATTAATGGAATGACCATATCTGGCTTCAGGAACATCTCCTACCAAGTCTTTCTCTGTGCAGCGAAAAGTAACCTTTTTGTTGTTCTTGCAAACAATAGACATGACATAAATCTTATCTGAAACCTCATTGTTTGGTGTTTTCCCTCCATGGATGATGTATTGATGCTTTTCAGACTCCAAGCTGCCTTTGAATGTGCAAGTGGCTGGGTAGCGAAGAGGAGGGAGGTAGCAGGAATCCTTAGAGAAAATTGTAGGCTTCAGTTTGACATGGTTATGCTTTACATCCAGATGGAAAACTCCAGTGGGGCAGGATCTTTTGGGCCAGCCTTTTTGTCCAAAGAAGAAAACTTGTCCATCAAAATTCATCAGTGAGAAGCCTGGCTGAATTAAGGCTATGTTATTACTGACTGTTACCATCTGCAGAGACATAGTTTCTGATGGTACGTAGATTTTTGTCTGAAAGAATTATAAAATAAAATGACTTAGAGATCGCTTCATATAATCATCGTATTTAGATTCCTTCACATGTGAATAGCATTTTTTTAAGTCCTCCCACACGCTTGCAGTGGGACTGAATGAGGAAAATCCAAGGAGTTAGGTCAGTAAAGAGCCACAGAACCTTTACTGCCATTCCATCCAAGGAGCTGGGACATGTTTTAGCCACGGACTATATGCTCCCTAGGATTTCTGGGAATTGTAGTCCTTTTCCGTAAAGAGTCACCATGCGTCAGCTGAAAGAACCACATTTCCCAAGAATCCGTTCTCTCTGGGATGTGTAGCTTTGGAAATCTGTCTTTGTTGCTCTGGGAGAGGGGACTCCTGGAATGTGTCTGTGAATAAAGACTAGCCGAAGGTGCGAAGTGACTAGACGGGAGCAAAGGAGGAAAACTAGGGAATGGGAGGTGAGAGTGGCTGACACCGACCCAACGTCCGGGTTGCCGGAAGGCTGCAGCGCCCGGAGCGGTGTCGGGCAAACCGCTACCCTGGTATTGCTGGAGCCTCTCCTGGGGACTTTTGAACAGGTGACCCGATAGGAAGCACAACTGCTTCTGTTGGAGTGCGGTTACCTGGAGACCGCAGTCTGAAGGGACTCCCGGCAGAGATGTCGTTACGGTGTCCTGCCTGTCTGGATGCTTAGGAGCGCGACTCAAAACTACACCCCTGACGACCCTGGAGGTGCTTGGGGCGGGAGGTTGAAGGGGGCACCGAGGTTACAAAAGCCGTGACTGTCTTACAGAACCGAAAGATGGATCTTTGAATCCCTAGAGTGCAGGGGAGACATTGCCTGTTAAAGATGTTTACCACTTCTACATTTAGTAATAGAAATACAGTTATTAGGTTTTAACGAGTGCACTTTGAAGGTCCTTTGTTTTCTTCACTGTTTTTACTCCTGTTTTTAGGGTTCTTTTAGGGAAGCAGAGAAGGTTCCTAAACACATCTTCTTTTCATCTTCATTCTAGGAAAATAGAGTTAGTGGCTTTTTCACATCTTTCCAGTCCAAGAACTTTTGGGTAATTCTTTAATAATTCTGTAGTAAGTAAGCAGGGACTAAGCATAGAAGTGTTTGAATTATTCAGAATTTCATACTTGTGTTACAACAAAAAGAATATTTACTAG
TTGTACTCCAGCGTTTCATCTCTTGCATAATTCATGTTTCCCGTAAATTTGTTAGTTGTACCTTACACACTGTAGACTTTCAGTGAGGAGTAAGAGTCTTCACTGTAACTGTGGCTGAAGCTCTTAAGATAAGGTTTTTCCAGAAAATTTTTTTTTCCGGAAAATATTTCAGGAGGAAAGACATTTGTTTCTAAGGTCATCTAGTTATCAACTGATGTCTTGAACCCTTAAAATTAACAGTCATTTTAACTAGTTTCATCCTAGCGAGTGTCTAATTAGACCTTGGCAAGATCACTGATTTTATAATATTCACTGGCAGCAATCTCCACATGTTAACTACACACACACACACACACACACACACACTCACACAAATACATTTCTTTTCCTCCATTTAAATCTTCTGCCTGTAAATGTCATGAAATTCTTTAAACTTACATTATTTTGGGAAATAATATTATTCTTCTCCATGAGATTTATTTGGTGGTCCTTTCTTATTGTATTCTTACTCACTTCCTTTTTCCAGAGTACTAAGTAGCAATGGGCTCCAGTTTTCCATGAAAATTCTCACAAATAATTAGTTCAAATGACTGACTTTGGCACATCATTCATGCATCATATAATGGGGAGGGGAAATCCTTAAAGAAAATGCATACAAGTAATTCAGGAAAACATGTCAAACTTGATGTAGATTATTTATTTCTTCTTTTGTGTCAGTGGAGAACATTATCTATCTATATGTATACATATATTTATATTTATATCTACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTCAGTGAAGAATAAATTAGTAAATTGAGTATTTGGGTAAAATATTTTCAAAATGTATAGGGTCTAGAATGACTTTATTTATCATTGCATTATAAACACTTTTTTCTGGCCCTTAATTCATGTAACTAAAAGAAAACATAGGCATTTTAAATAAACAAAAATGTATTTTTAAAATCAATGTTATGATTTTAAAAATAGATTCAAAAATTCCATACACCTGAATCTGAAAGGCTTTTGCAAAACTAATCAAACAACCTTCTAAGAAAGGATTTCTTGGCAGGAGTCAAGATTTTTCCAGAACCTTTTTTACGGAGGGATTTCATTGGAGGCTTTTTTAAGGGTAGGACTCTTTGGGGAGTGTGTAGAGCTCTTGCTATCTCCACATGCTCATTGCAGTAATACTTGTTGCTTCCTGCTGACAGATGGATGAGTGTGCGTTCTGCCAGATCCATGCACTGAGCATGGACCCAGTGCCCATCCCCATGAGAGCAGTAGATCATGGCGGGTTTGTTGAGCTCAGTTGAATAGAATGGTACCCAAGTGTTGATATCCACATCACAAGTAGGGCAGCATGTAATCCAGTAGCCTGTCTCAGACTCATCTTCTTCATCATCTTCATTATAGGTGTCAAATTCATCATCACCATCAAAACTATTTGCTTCTGCACTGAAACAAAATTCTTCAGAGTCTTCAAAGGGAGTGGAATCCCCTGGATCTTCTGTTGATGTTTGACTGTTTGTGAATGTTGTCTGCTCTTCATTAGTATCATCTTCAGCACATTTCAACATATAGAAATAGAATCCTTCTGAAACAACTTGTTTATTGTCTCCTGGTATGCCAAGAAAAACAGTTCCATTTCCCATGTTGCTTCCAAACCATATCTTGCTGTGCTTAATGTCTGGGGTCCAATCTGGGGTCTCCATCTCACGAATTTCTATCTTGTTGTCCTCTAAAGAGATGATGTTGCGATCATTCTTTTTTGATTTTCAAGCTGATAGCCACCAACAATAACAAATTCATCATTGTTAGTTTGAGTCAGGATTGCACTGGAGACAGAGATTCCTCCTGGCAAGACTGTGCAATTCACAGCTGGGCTACCCAGGGGAAGATCAACCCTTATTCTGTACAGGTTGGCAGGCCGGATATTATTGGCAAGTGAATGTCCTCCTAAAATATAGATGGTGTCATTTTTGGCAATAGAGACATGAAAAGATAGCCCATCCTGAAGTTCTGGAAGAATGTATGATGTAGCACACCCAAATTCAAAATCCACCAGGAAAACACAGGGCAGGCAGTCAGCTACACTATTCCATTTTTCTGTGGTTCTGTGGGTAGAAGGCATGTATGAGCGTCCTCCAAAGAGAACACCCATACTTTTCCCTCGGCTGTACACCACATTAATGGAATGACCATATCTGGCTTCAGGAACATCTCCTACCAAGTCTTTCTCTGTGCAGCGAAAAGTAACCTTTTTGTTGTTCTTGCAAACAATAGACATGACATAAATCTTATCTGAAACCTCATTGTTTGGTGTTTTCCCTCCATGGATGATGTATTGATGCTTTTCAGACTCCAAGCTGCCTTTGAATGTGCAAGTGGCTGGGTAGCGAAGAGGAGGGAGGTAGCAGGAATCCTTAGAGAAAATTGTAGGCTTCAGTTTGACATGGTTATGCTTTACATCCAGATGGAAAACTCCAGTGGGGCAGGATCTTTTGGGCCAGCCTTTTTGTCCAAAGAAGAAAACTTGTCCATCAAAATTCATCAGTGAGAAGCCTGGCTGAATTAAGGCTATGTTATTACTGACTGTTACCATCTGCAGAGACATAGTTTCTGATGGTACGTAGATTTTTGTCTGAAAGAATTATAAAATAAAATGACTTAGAGATCGCTTCATATAATCATCGTATTTAGATTCCTTCACATGTGAATAGCATTTTTTTAAGTCCTCCCACACGCTTGCAGTGGGACTGAATGAGGAAAATCCAAGGAGTTAGGTCAGTAAAGAGCCACAGAACCTTTACTGCCATTCCATCCAAGGAGCTGGGACATGTTTTAGCCACGGACTATATGCTCCCTAGGATTTCTGGGAATTGTAGTCCTTTTCCGTAAAGAGTCACCATGCGTCAGCTGAAAGAACCACATTTCCCAAGAATCCGTTCTCTCTGGGATGTGTAGCTTTGGAAATCTGTCTTTGTTGCTCTGGGAGAGGGGACTCCTGGAATGTGTCTGTGAATAAAGACTAGCCGAAGGTGCGAAGTGACTAGACGGGAGCAAAGGAGGAAAACTAGGGAATGGGAGGTGAGAGTGGCTGACACCGACCCAACGTCCGGGTTGCCGGAAGGCTGCAGCGCCCGGAGCGGTGTCGGGCAAACCGCTACCCTGGTATTGCTGGAGCCTCTCCTGGGGACTTTTGAACAGGTGACCCGATAGGAAGCACAACTGCTTCTGTTGGAGTGCGGTTACCTGGAGACCGCAGTCTGAAGGGACTCCCGGCAGAGATGTCGTTACGGTGTCCTGCCTGTCTGGATGCTTAGGAGCGCGACTCAAAACTACACCCCTGACGACCCTGGAGGTGCTTGGGGCGGGAGGTTGAAGGGGGCACCGAGGTTACAAAAGCCGTGACTGTCTTACAGAACCGAAAGATGGATCTTTGAATCCCTAGAGTGCAGGGGAGACATTGCCTGTTAAAGATGTTTACCACTTCTACATTTAGTAATAGAAATACAGTTATTAGGTTTTAACGAGTGCACTTTGAAGGTCCTTTGTTTTCTTCACTGTTTTTACTCCTGTTTTTAGGGTTCTTTTAGGGAAGCAGAGAAGGTTCCTAAACACATCTTCTTTTCATCTTCATTCTAGGAAAATAGAGTTAGTGGCTTTTTCACATCTTTCCAGTCCAAGAACTTTTGGGTAATTCTTTAATAATTCTGTAGTAAGTAAGCAGGGACTAAGCATAGAAGTGTTTGAATTATTCAGAATTTCATACTTGTGTTACAACAAAAAGAATATTTACTAGN
pathogenic
174,646
Evaluate the clinical significance of the mutation at chromosome 11, position 36593339 in gene RAG2 (recombination activating 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
pathogenic; ['Combined_immunodeficiency_with_skin_granulomas', 'Histiocytic_medullary_reticulosis', 'Recombinase_activating_gene_2_deficiency', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive']
TTCATGTTTCCCGTAAATTTGTTAGTTGTACCTTACACACTGTAGACTTTCAGTGAGGAGTAAGAGTCTTCACTGTAACTGTGGCTGAAGCTCTTAAGATAAGGTTTTTCCAGAAAATTTTTTTTTCCGGAAAATATTTCAGGAGGAAAGACATTTGTTTCTAAGGTCATCTAGTTATCAACTGATGTCTTGAACCCTTAAAATTAACAGTCATTTTAACTAGTTTCATCCTAGCGAGTGTCTAATTAGACCTTGGCAAGATCACTGATTTTATAATATTCACTGGCAGCAATCTCCACATGTTAACTACACACACACACACACACACACACACACTCACACAAATACATTTCTTTTCCTCCATTTAAATCTTCTGCCTGTAAATGTCATGAAATTCTTTAAACTTACATTATTTTGGGAAATAATATTATTCTTCTCCATGAGATTTATTTGGTGGTCCTTTCTTATTGTATTCTTACTCACTTCCTTTTTCCAGAGTACTAAGTAGCAATGGGCTCCAGTTTTCCATGAAAATTCTCACAAATAATTAGTTCAAATGACTGACTTTGGCACATCATTCATGCATCATATAATGGGGAGGGGAAATCCTTAAAGAAAATGCATACAAGTAATTCAGGAAAACATGTCAAACTTGATGTAGATTATTTATTTCTTCTTTTGTGTCAGTGGAGAACATTATCTATCTATATGTATACATATATTTATATTTATATCTACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTCAGTGAAGAATAAATTAGTAAATTGAGTATTTGGGTAAAATATTTTCAAAATGTATAGGGTCTAGAATGACTTTATTTATCATTGCATTATAAACACTTTTTTCTGGCCCTTAATTCATGTAACTAAAAGAAAACATAGGCATTTTAAATAAACAAAAATGTATTTTTAAAATCAATGTTATGATTTTAAAAATAGATTCAAAAATTCCATACACCTGAATCTGAAAGGCTTTTGCAAAACTAATCAAACAACCTTCTAAGAAAGGATTTCTTGGCAGGAGTCAAGATTTTTCCAGAACCTTTTTTACGGAGGGATTTCATTGGAGGCTTTTTTAAGGGTAGGACTCTTTGGGGAGTGTGTAGAGCTCTTGCTATCTCCACATGCTCATTGCAGTAATACTTGTTGCTTCCTGCTGACAGATGGATGAGTGTGCGTTCTGCCAGATCCATGCACTGAGCATGGACCCAGTGCCCATCCCCATGAGAGCAGTAGATCATGGCGGGTTTGTTGAGCTCAGTTGAATAGAATGGTACCCAAGTGTTGATATCCACATCACAAGTAGGGCAGCATGTAATCCAGTAGCCTGTCTCAGACTCATCTTCTTCATCATCTTCATTATAGGTGTCAAATTCATCATCACCATCAAAACTATTTGCTTCTGCACTGAAACAAAATTCTTCAGAGTCTTCAAAGGGAGTGGAATCCCCTGGATCTTCTGTTGATGTTTGACTGTTTGTGAATGTTGTCTGCTCTTCATTAGTATCATCTTCAGCACATTTCAACATATAGAAATAGAATCCTTCTGAAACAACTTGTTTATTGTCTCCTGGTATGCCAAGAAAAACAGTTCCATTTCCCATGTTGCTTCCAAACCATATCTTGCTGTGCTTAATGTCTGGGGTCCAATCTGGGGTCTCCATCTCACGAATTTCTATCTTGTTGTCCTCTAAAGAGATGATGTTGCAGATCATTCTTTTTTGATTTTCAAGCTGATAGCCACCAACAATAACAAATTCATCATTGTTAGTTTGAGTCAGGATTGCACTGGAGACAGAGATTCCTCCTGGCAAGACTGTGCAATTCACAGCTGGGCTACCCAGGGGAAGATCAACCCTTATTCTGTACAGGTTGGCAGGCCGGATATTATTGGCAAGTGAATGTCCTCCTAAAATATAGATGGTGTCATTTTTGGCAATAGAGACATGAAAAGATAGCCCATCCTGAAGTTCTGGAAGAATGTATGATGTAGCACACCCAAATTCAAAATCCACCAGGAAAACACAGGGCAGGCAGTCAGCTACACTATTCCATTTTTCTGTGGTTCTGTGGGTAGAAGGCATGTATGAGCGTCCTCCAAAGAGAACACCCATACTTTTCCCTCGGCTGTACACCACATTAATGGAATGACCATATCTGGCTTCAGGAACATCTCCTACCAAGTCTTTCTCTGTGCAGCGAAAAGTAACCTTTTTGTTGTTCTTGCAAACAATAGACATGACATAAATCTTATCTGAAACCTCATTGTTTGGTGTTTTCCCTCCATGGATGATGTATTGATGCTTTTCAGACTCCAAGCTGCCTTTGAATGTGCAAGTGGCTGGGTAGCGAAGAGGAGGGAGGTAGCAGGAATCCTTAGAGAAAATTGTAGGCTTCAGTTTGACATGGTTATGCTTTACATCCAGATGGAAAACTCCAGTGGGGCAGGATCTTTTGGGCCAGCCTTTTTGTCCAAAGAAGAAAACTTGTCCATCAAAATTCATCAGTGAGAAGCCTGGCTGAATTAAGGCTATGTTATTACTGACTGTTACCATCTGCAGAGACATAGTTTCTGATGGTACGTAGATTTTTGTCTGAAAGAATTATAAAATAAAATGACTTAGAGATCGCTTCATATAATCATCGTATTTAGATTCCTTCACATGTGAATAGCATTTTTTTAAGTCCTCCCACACGCTTGCAGTGGGACTGAATGAGGAAAATCCAAGGAGTTAGGTCAGTAAAGAGCCACAGAACCTTTACTGCCATTCCATCCAAGGAGCTGGGACATGTTTTAGCCACGGACTATATGCTCCCTAGGATTTCTGGGAATTGTAGTCCTTTTCCGTAAAGAGTCACCATGCGTCAGCTGAAAGAACCACATTTCCCAAGAATCCGTTCTCTCTGGGATGTGTAGCTTTGGAAATCTGTCTTTGTTGCTCTGGGAGAGGGGACTCCTGGAATGTGTCTGTGAATAAAGACTAGCCGAAGGTGCGAAGTGACTAGACGGGAGCAAAGGAGGAAAACTAGGGAATGGGAGGTGAGAGTGGCTGACACCGACCCAACGTCCGGGTTGCCGGAAGGCTGCAGCGCCCGGAGCGGTGTCGGGCAAACCGCTACCCTGGTATTGCTGGAGCCTCTCCTGGGGACTTTTGAACAGGTGACCCGATAGGAAGCACAACTGCTTCTGTTGGAGTGCGGTTACCTGGAGACCGCAGTCTGAAGGGACTCCCGGCAGAGATGTCGTTACGGTGTCCTGCCTGTCTGGATGCTTAGGAGCGCGACTCAAAACTACACCCCTGACGACCCTGGAGGTGCTTGGGGCGGGAGGTTGAAGGGGGCACCGAGGTTACAAAAGCCGTGACTGTCTTACAGAACCGAAAGATGGATCTTTGAATCCCTAGAGTGCAGGGGAGACATTGCCTGTTAAAGATGTTTACCACTTCTACATTTAGTAATAGAAATACAGTTATTAGGTTTTAACGAGTGCACTTTGAAGGTCCTTTGTTTTCTTCACTGTTTTTACTCCTGTTTTTAGGGTTCTTTTAGGGAAGCAGAGAAGGTTCCTAAACACATCTTCTTTTCATCTTCATTCTAGGAAAATAGAGTTAGTGGCTTTTTCACATCTTTCCAGTCCAAGAACTTTTGGGTAATTCTTTAATAATTCTGTAGTAAGTAAGCAGGGACTAAGCATAGAAGTGTTTGAATTATTCAGAATTTCATACTTGTGTTACAACAAAAAGAATATTTACTAGATGAAGGAAGCTTGATAAATTTCTATTTTA
TTCATGTTTCCCGTAAATTTGTTAGTTGTACCTTACACACTGTAGACTTTCAGTGAGGAGTAAGAGTCTTCACTGTAACTGTGGCTGAAGCTCTTAAGATAAGGTTTTTCCAGAAAATTTTTTTTTCCGGAAAATATTTCAGGAGGAAAGACATTTGTTTCTAAGGTCATCTAGTTATCAACTGATGTCTTGAACCCTTAAAATTAACAGTCATTTTAACTAGTTTCATCCTAGCGAGTGTCTAATTAGACCTTGGCAAGATCACTGATTTTATAATATTCACTGGCAGCAATCTCCACATGTTAACTACACACACACACACACACACACACACACTCACACAAATACATTTCTTTTCCTCCATTTAAATCTTCTGCCTGTAAATGTCATGAAATTCTTTAAACTTACATTATTTTGGGAAATAATATTATTCTTCTCCATGAGATTTATTTGGTGGTCCTTTCTTATTGTATTCTTACTCACTTCCTTTTTCCAGAGTACTAAGTAGCAATGGGCTCCAGTTTTCCATGAAAATTCTCACAAATAATTAGTTCAAATGACTGACTTTGGCACATCATTCATGCATCATATAATGGGGAGGGGAAATCCTTAAAGAAAATGCATACAAGTAATTCAGGAAAACATGTCAAACTTGATGTAGATTATTTATTTCTTCTTTTGTGTCAGTGGAGAACATTATCTATCTATATGTATACATATATTTATATTTATATCTACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTCAGTGAAGAATAAATTAGTAAATTGAGTATTTGGGTAAAATATTTTCAAAATGTATAGGGTCTAGAATGACTTTATTTATCATTGCATTATAAACACTTTTTTCTGGCCCTTAATTCATGTAACTAAAAGAAAACATAGGCATTTTAAATAAACAAAAATGTATTTTTAAAATCAATGTTATGATTTTAAAAATAGATTCAAAAATTCCATACACCTGAATCTGAAAGGCTTTTGCAAAACTAATCAAACAACCTTCTAAGAAAGGATTTCTTGGCAGGAGTCAAGATTTTTCCAGAACCTTTTTTACGGAGGGATTTCATTGGAGGCTTTTTTAAGGGTAGGACTCTTTGGGGAGTGTGTAGAGCTCTTGCTATCTCCACATGCTCATTGCAGTAATACTTGTTGCTTCCTGCTGACAGATGGATGAGTGTGCGTTCTGCCAGATCCATGCACTGAGCATGGACCCAGTGCCCATCCCCATGAGAGCAGTAGATCATGGCGGGTTTGTTGAGCTCAGTTGAATAGAATGGTACCCAAGTGTTGATATCCACATCACAAGTAGGGCAGCATGTAATCCAGTAGCCTGTCTCAGACTCATCTTCTTCATCATCTTCATTATAGGTGTCAAATTCATCATCACCATCAAAACTATTTGCTTCTGCACTGAAACAAAATTCTTCAGAGTCTTCAAAGGGAGTGGAATCCCCTGGATCTTCTGTTGATGTTTGACTGTTTGTGAATGTTGTCTGCTCTTCATTAGTATCATCTTCAGCACATTTCAACATATAGAAATAGAATCCTTCTGAAACAACTTGTTTATTGTCTCCTGGTATGCCAAGAAAAACAGTTCCATTTCCCATGTTGCTTCCAAACCATATCTTGCTGTGCTTAATGTCTGGGGTCCAATCTGGGGTCTCCATCTCACGAATTTCTATCTTGTTGTCCTCTAAAGAGATGATGTTGCAGATCATTCTTTTTTGATTTTCAAGCTGATAAGCCACCAACAATAACAAATTCATCATTGTTAGTTTGAGTCAGGATTGCACTGGAGACAGAGATTCCTCCTGGCAAGACTGTGCAATTCACAGCTGGGCTACCCAGGGGAAGATCAACCCTTATTCTGTACAGGTTGGCAGGCCGGATATTATTGGCAAGTGAATGTCCTCCTAAAATATAGATGGTGTCATTTTTGGCAATAGAGACATGAAAAGATAGCCCATCCTGAAGTTCTGGAAGAATGTATGATGTAGCACACCCAAATTCAAAATCCACCAGGAAAACACAGGGCAGGCAGTCAGCTACACTATTCCATTTTTCTGTGGTTCTGTGGGTAGAAGGCATGTATGAGCGTCCTCCAAAGAGAACACCCATACTTTTCCCTCGGCTGTACACCACATTAATGGAATGACCATATCTGGCTTCAGGAACATCTCCTACCAAGTCTTTCTCTGTGCAGCGAAAAGTAACCTTTTTGTTGTTCTTGCAAACAATAGACATGACATAAATCTTATCTGAAACCTCATTGTTTGGTGTTTTCCCTCCATGGATGATGTATTGATGCTTTTCAGACTCCAAGCTGCCTTTGAATGTGCAAGTGGCTGGGTAGCGAAGAGGAGGGAGGTAGCAGGAATCCTTAGAGAAAATTGTAGGCTTCAGTTTGACATGGTTATGCTTTACATCCAGATGGAAAACTCCAGTGGGGCAGGATCTTTTGGGCCAGCCTTTTTGTCCAAAGAAGAAAACTTGTCCATCAAAATTCATCAGTGAGAAGCCTGGCTGAATTAAGGCTATGTTATTACTGACTGTTACCATCTGCAGAGACATAGTTTCTGATGGTACGTAGATTTTTGTCTGAAAGAATTATAAAATAAAATGACTTAGAGATCGCTTCATATAATCATCGTATTTAGATTCCTTCACATGTGAATAGCATTTTTTTAAGTCCTCCCACACGCTTGCAGTGGGACTGAATGAGGAAAATCCAAGGAGTTAGGTCAGTAAAGAGCCACAGAACCTTTACTGCCATTCCATCCAAGGAGCTGGGACATGTTTTAGCCACGGACTATATGCTCCCTAGGATTTCTGGGAATTGTAGTCCTTTTCCGTAAAGAGTCACCATGCGTCAGCTGAAAGAACCACATTTCCCAAGAATCCGTTCTCTCTGGGATGTGTAGCTTTGGAAATCTGTCTTTGTTGCTCTGGGAGAGGGGACTCCTGGAATGTGTCTGTGAATAAAGACTAGCCGAAGGTGCGAAGTGACTAGACGGGAGCAAAGGAGGAAAACTAGGGAATGGGAGGTGAGAGTGGCTGACACCGACCCAACGTCCGGGTTGCCGGAAGGCTGCAGCGCCCGGAGCGGTGTCGGGCAAACCGCTACCCTGGTATTGCTGGAGCCTCTCCTGGGGACTTTTGAACAGGTGACCCGATAGGAAGCACAACTGCTTCTGTTGGAGTGCGGTTACCTGGAGACCGCAGTCTGAAGGGACTCCCGGCAGAGATGTCGTTACGGTGTCCTGCCTGTCTGGATGCTTAGGAGCGCGACTCAAAACTACACCCCTGACGACCCTGGAGGTGCTTGGGGCGGGAGGTTGAAGGGGGCACCGAGGTTACAAAAGCCGTGACTGTCTTACAGAACCGAAAGATGGATCTTTGAATCCCTAGAGTGCAGGGGAGACATTGCCTGTTAAAGATGTTTACCACTTCTACATTTAGTAATAGAAATACAGTTATTAGGTTTTAACGAGTGCACTTTGAAGGTCCTTTGTTTTCTTCACTGTTTTTACTCCTGTTTTTAGGGTTCTTTTAGGGAAGCAGAGAAGGTTCCTAAACACATCTTCTTTTCATCTTCATTCTAGGAAAATAGAGTTAGTGGCTTTTTCACATCTTTCCAGTCCAAGAACTTTTGGGTAATTCTTTAATAATTCTGTAGTAAGTAAGCAGGGACTAAGCATAGAAGTGTTTGAATTATTCAGAATTTCATACTTGTGTTACAACAAAAAGAATATTTACTAGATGAAGGAAGCTTGATAAATTTCTATTTT
pathogenic
174,648
The genetic variant at chromosome 11, position 36593444, affecting gene RAG2 (recombination activating 2): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Combined_immunodeficiency_with_skin_granulomas', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive']
TTTTCCAGAAAATTTTTTTTTCCGGAAAATATTTCAGGAGGAAAGACATTTGTTTCTAAGGTCATCTAGTTATCAACTGATGTCTTGAACCCTTAAAATTAACAGTCATTTTAACTAGTTTCATCCTAGCGAGTGTCTAATTAGACCTTGGCAAGATCACTGATTTTATAATATTCACTGGCAGCAATCTCCACATGTTAACTACACACACACACACACACACACACACACTCACACAAATACATTTCTTTTCCTCCATTTAAATCTTCTGCCTGTAAATGTCATGAAATTCTTTAAACTTACATTATTTTGGGAAATAATATTATTCTTCTCCATGAGATTTATTTGGTGGTCCTTTCTTATTGTATTCTTACTCACTTCCTTTTTCCAGAGTACTAAGTAGCAATGGGCTCCAGTTTTCCATGAAAATTCTCACAAATAATTAGTTCAAATGACTGACTTTGGCACATCATTCATGCATCATATAATGGGGAGGGGAAATCCTTAAAGAAAATGCATACAAGTAATTCAGGAAAACATGTCAAACTTGATGTAGATTATTTATTTCTTCTTTTGTGTCAGTGGAGAACATTATCTATCTATATGTATACATATATTTATATTTATATCTACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTCAGTGAAGAATAAATTAGTAAATTGAGTATTTGGGTAAAATATTTTCAAAATGTATAGGGTCTAGAATGACTTTATTTATCATTGCATTATAAACACTTTTTTCTGGCCCTTAATTCATGTAACTAAAAGAAAACATAGGCATTTTAAATAAACAAAAATGTATTTTTAAAATCAATGTTATGATTTTAAAAATAGATTCAAAAATTCCATACACCTGAATCTGAAAGGCTTTTGCAAAACTAATCAAACAACCTTCTAAGAAAGGATTTCTTGGCAGGAGTCAAGATTTTTCCAGAACCTTTTTTACGGAGGGATTTCATTGGAGGCTTTTTTAAGGGTAGGACTCTTTGGGGAGTGTGTAGAGCTCTTGCTATCTCCACATGCTCATTGCAGTAATACTTGTTGCTTCCTGCTGACAGATGGATGAGTGTGCGTTCTGCCAGATCCATGCACTGAGCATGGACCCAGTGCCCATCCCCATGAGAGCAGTAGATCATGGCGGGTTTGTTGAGCTCAGTTGAATAGAATGGTACCCAAGTGTTGATATCCACATCACAAGTAGGGCAGCATGTAATCCAGTAGCCTGTCTCAGACTCATCTTCTTCATCATCTTCATTATAGGTGTCAAATTCATCATCACCATCAAAACTATTTGCTTCTGCACTGAAACAAAATTCTTCAGAGTCTTCAAAGGGAGTGGAATCCCCTGGATCTTCTGTTGATGTTTGACTGTTTGTGAATGTTGTCTGCTCTTCATTAGTATCATCTTCAGCACATTTCAACATATAGAAATAGAATCCTTCTGAAACAACTTGTTTATTGTCTCCTGGTATGCCAAGAAAAACAGTTCCATTTCCCATGTTGCTTCCAAACCATATCTTGCTGTGCTTAATGTCTGGGGTCCAATCTGGGGTCTCCATCTCACGAATTTCTATCTTGTTGTCCTCTAAAGAGATGATGTTGCAGATCATTCTTTTTTGATTTTCAAGCTGATAGCCACCAACAATAACAAATTCATCATTGTTAGTTTGAGTCAGGATTGCACTGGAGACAGAGATTCCTCCTGGCAAGACTGTGCAATTCACAGCTGGGCTACCCAGGGGAAGATCAACCCTTATTCTGTACAGGTTGGCAGGCCGGATATTATTGGCAAGTGAATGTCCTCCTAAAATATAGATGGTGTCATTTTTGGCAATAGAGACATGAAAAGATAGCCCATCCTGAAGTTCTGGAAGAATGTATGATGTAGCACACCCAAATTCAAAATCCACCAGGAAAACACAGGGCAGGCAGTCAGCTACACTATTCCATTTTTCTGTGGTTCTGTGGGTAGAAGGCATGTATGAGCGTCCTCCAAAGAGAACACCCATACTTTTCCCTCGGCTGTACACCACATTAATGGAATGACCATATCTGGCTTCAGGAACATCTCCTACCAAGTCTTTCTCTGTGCAGCGAAAAGTAACCTTTTTGTTGTTCTTGCAAACAATAGACATGACATAAATCTTATCTGAAACCTCATTGTTTGGTGTTTTCCCTCCATGGATGATGTATTGATGCTTTTCAGACTCCAAGCTGCCTTTGAATGTGCAAGTGGCTGGGTAGCGAAGAGGAGGGAGGTAGCAGGAATCCTTAGAGAAAATTGTAGGCTTCAGTTTGACATGGTTATGCTTTACATCCAGATGGAAAACTCCAGTGGGGCAGGATCTTTTGGGCCAGCCTTTTTGTCCAAAGAAGAAAACTTGTCCATCAAAATTCATCAGTGAGAAGCCTGGCTGAATTAAGGCTATGTTATTACTGACTGTTACCATCTGCAGAGACATAGTTTCTGATGGTACGTAGATTTTTGTCTGAAAGAATTATAAAATAAAATGACTTAGAGATCGCTTCATATAATCATCGTATTTAGATTCCTTCACATGTGAATAGCATTTTTTTAAGTCCTCCCACACGCTTGCAGTGGGACTGAATGAGGAAAATCCAAGGAGTTAGGTCAGTAAAGAGCCACAGAACCTTTACTGCCATTCCATCCAAGGAGCTGGGACATGTTTTAGCCACGGACTATATGCTCCCTAGGATTTCTGGGAATTGTAGTCCTTTTCCGTAAAGAGTCACCATGCGTCAGCTGAAAGAACCACATTTCCCAAGAATCCGTTCTCTCTGGGATGTGTAGCTTTGGAAATCTGTCTTTGTTGCTCTGGGAGAGGGGACTCCTGGAATGTGTCTGTGAATAAAGACTAGCCGAAGGTGCGAAGTGACTAGACGGGAGCAAAGGAGGAAAACTAGGGAATGGGAGGTGAGAGTGGCTGACACCGACCCAACGTCCGGGTTGCCGGAAGGCTGCAGCGCCCGGAGCGGTGTCGGGCAAACCGCTACCCTGGTATTGCTGGAGCCTCTCCTGGGGACTTTTGAACAGGTGACCCGATAGGAAGCACAACTGCTTCTGTTGGAGTGCGGTTACCTGGAGACCGCAGTCTGAAGGGACTCCCGGCAGAGATGTCGTTACGGTGTCCTGCCTGTCTGGATGCTTAGGAGCGCGACTCAAAACTACACCCCTGACGACCCTGGAGGTGCTTGGGGCGGGAGGTTGAAGGGGGCACCGAGGTTACAAAAGCCGTGACTGTCTTACAGAACCGAAAGATGGATCTTTGAATCCCTAGAGTGCAGGGGAGACATTGCCTGTTAAAGATGTTTACCACTTCTACATTTAGTAATAGAAATACAGTTATTAGGTTTTAACGAGTGCACTTTGAAGGTCCTTTGTTTTCTTCACTGTTTTTACTCCTGTTTTTAGGGTTCTTTTAGGGAAGCAGAGAAGGTTCCTAAACACATCTTCTTTTCATCTTCATTCTAGGAAAATAGAGTTAGTGGCTTTTTCACATCTTTCCAGTCCAAGAACTTTTGGGTAATTCTTTAATAATTCTGTAGTAAGTAAGCAGGGACTAAGCATAGAAGTGTTTGAATTATTCAGAATTTCATACTTGTGTTACAACAAAAAGAATATTTACTAGATGAAGGAAGCTTGATAAATTTCTATTTTATTATTGTTTACCTTAGAGAGTTGTGGAATACACTCCGTGTTTGCAGTGTGATGTCCTGTGCACCAAATGTTAAAGGAAACAAAACATAGCACAGATTTCTTGACT
TTTTCCAGAAAATTTTTTTTTCCGGAAAATATTTCAGGAGGAAAGACATTTGTTTCTAAGGTCATCTAGTTATCAACTGATGTCTTGAACCCTTAAAATTAACAGTCATTTTAACTAGTTTCATCCTAGCGAGTGTCTAATTAGACCTTGGCAAGATCACTGATTTTATAATATTCACTGGCAGCAATCTCCACATGTTAACTACACACACACACACACACACACACACACTCACACAAATACATTTCTTTTCCTCCATTTAAATCTTCTGCCTGTAAATGTCATGAAATTCTTTAAACTTACATTATTTTGGGAAATAATATTATTCTTCTCCATGAGATTTATTTGGTGGTCCTTTCTTATTGTATTCTTACTCACTTCCTTTTTCCAGAGTACTAAGTAGCAATGGGCTCCAGTTTTCCATGAAAATTCTCACAAATAATTAGTTCAAATGACTGACTTTGGCACATCATTCATGCATCATATAATGGGGAGGGGAAATCCTTAAAGAAAATGCATACAAGTAATTCAGGAAAACATGTCAAACTTGATGTAGATTATTTATTTCTTCTTTTGTGTCAGTGGAGAACATTATCTATCTATATGTATACATATATTTATATTTATATCTACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTCAGTGAAGAATAAATTAGTAAATTGAGTATTTGGGTAAAATATTTTCAAAATGTATAGGGTCTAGAATGACTTTATTTATCATTGCATTATAAACACTTTTTTCTGGCCCTTAATTCATGTAACTAAAAGAAAACATAGGCATTTTAAATAAACAAAAATGTATTTTTAAAATCAATGTTATGATTTTAAAAATAGATTCAAAAATTCCATACACCTGAATCTGAAAGGCTTTTGCAAAACTAATCAAACAACCTTCTAAGAAAGGATTTCTTGGCAGGAGTCAAGATTTTTCCAGAACCTTTTTTACGGAGGGATTTCATTGGAGGCTTTTTTAAGGGTAGGACTCTTTGGGGAGTGTGTAGAGCTCTTGCTATCTCCACATGCTCATTGCAGTAATACTTGTTGCTTCCTGCTGACAGATGGATGAGTGTGCGTTCTGCCAGATCCATGCACTGAGCATGGACCCAGTGCCCATCCCCATGAGAGCAGTAGATCATGGCGGGTTTGTTGAGCTCAGTTGAATAGAATGGTACCCAAGTGTTGATATCCACATCACAAGTAGGGCAGCATGTAATCCAGTAGCCTGTCTCAGACTCATCTTCTTCATCATCTTCATTATAGGTGTCAAATTCATCATCACCATCAAAACTATTTGCTTCTGCACTGAAACAAAATTCTTCAGAGTCTTCAAAGGGAGTGGAATCCCCTGGATCTTCTGTTGATGTTTGACTGTTTGTGAATGTTGTCTGCTCTTCATTAGTATCATCTTCAGCACATTTCAACATATAGAAATAGAATCCTTCTGAAACAACTTGTTTATTGTCTCCTGGTATGCCAAGAAAAACAGTTCCATTTCCCATGTTGCTTCCAAACCATATCTTGCTGTGCTTAATGTCTGGGGTCCAATCTGGGGTCTCCATCTCACGAATTTCTATCTTGTTGTCCTCTAAAGAGATGATGTTGCAGATCATTCTTTTTTGATTTTCAAGCTGATAGCCACCAACAATAACAAATTCATCATTGTTAGTTTGAGTCAGGATTGCACTGGAGACAGAGATTCCTCCTGGCAAGACTGTGCAATTCACAGCTGGGCTACCCAGGGGGAAGATCAACCCTTATTCTGTACAGGTTGGCAGGCCGGATATTATTGGCAAGTGAATGTCCTCCTAAAATATAGATGGTGTCATTTTTGGCAATAGAGACATGAAAAGATAGCCCATCCTGAAGTTCTGGAAGAATGTATGATGTAGCACACCCAAATTCAAAATCCACCAGGAAAACACAGGGCAGGCAGTCAGCTACACTATTCCATTTTTCTGTGGTTCTGTGGGTAGAAGGCATGTATGAGCGTCCTCCAAAGAGAACACCCATACTTTTCCCTCGGCTGTACACCACATTAATGGAATGACCATATCTGGCTTCAGGAACATCTCCTACCAAGTCTTTCTCTGTGCAGCGAAAAGTAACCTTTTTGTTGTTCTTGCAAACAATAGACATGACATAAATCTTATCTGAAACCTCATTGTTTGGTGTTTTCCCTCCATGGATGATGTATTGATGCTTTTCAGACTCCAAGCTGCCTTTGAATGTGCAAGTGGCTGGGTAGCGAAGAGGAGGGAGGTAGCAGGAATCCTTAGAGAAAATTGTAGGCTTCAGTTTGACATGGTTATGCTTTACATCCAGATGGAAAACTCCAGTGGGGCAGGATCTTTTGGGCCAGCCTTTTTGTCCAAAGAAGAAAACTTGTCCATCAAAATTCATCAGTGAGAAGCCTGGCTGAATTAAGGCTATGTTATTACTGACTGTTACCATCTGCAGAGACATAGTTTCTGATGGTACGTAGATTTTTGTCTGAAAGAATTATAAAATAAAATGACTTAGAGATCGCTTCATATAATCATCGTATTTAGATTCCTTCACATGTGAATAGCATTTTTTTAAGTCCTCCCACACGCTTGCAGTGGGACTGAATGAGGAAAATCCAAGGAGTTAGGTCAGTAAAGAGCCACAGAACCTTTACTGCCATTCCATCCAAGGAGCTGGGACATGTTTTAGCCACGGACTATATGCTCCCTAGGATTTCTGGGAATTGTAGTCCTTTTCCGTAAAGAGTCACCATGCGTCAGCTGAAAGAACCACATTTCCCAAGAATCCGTTCTCTCTGGGATGTGTAGCTTTGGAAATCTGTCTTTGTTGCTCTGGGAGAGGGGACTCCTGGAATGTGTCTGTGAATAAAGACTAGCCGAAGGTGCGAAGTGACTAGACGGGAGCAAAGGAGGAAAACTAGGGAATGGGAGGTGAGAGTGGCTGACACCGACCCAACGTCCGGGTTGCCGGAAGGCTGCAGCGCCCGGAGCGGTGTCGGGCAAACCGCTACCCTGGTATTGCTGGAGCCTCTCCTGGGGACTTTTGAACAGGTGACCCGATAGGAAGCACAACTGCTTCTGTTGGAGTGCGGTTACCTGGAGACCGCAGTCTGAAGGGACTCCCGGCAGAGATGTCGTTACGGTGTCCTGCCTGTCTGGATGCTTAGGAGCGCGACTCAAAACTACACCCCTGACGACCCTGGAGGTGCTTGGGGCGGGAGGTTGAAGGGGGCACCGAGGTTACAAAAGCCGTGACTGTCTTACAGAACCGAAAGATGGATCTTTGAATCCCTAGAGTGCAGGGGAGACATTGCCTGTTAAAGATGTTTACCACTTCTACATTTAGTAATAGAAATACAGTTATTAGGTTTTAACGAGTGCACTTTGAAGGTCCTTTGTTTTCTTCACTGTTTTTACTCCTGTTTTTAGGGTTCTTTTAGGGAAGCAGAGAAGGTTCCTAAACACATCTTCTTTTCATCTTCATTCTAGGAAAATAGAGTTAGTGGCTTTTTCACATCTTTCCAGTCCAAGAACTTTTGGGTAATTCTTTAATAATTCTGTAGTAAGTAAGCAGGGACTAAGCATAGAAGTGTTTGAATTATTCAGAATTTCATACTTGTGTTACAACAAAAAGAATATTTACTAGATGAAGGAAGCTTGATAAATTTCTATTTTATTATTGTTTACCTTAGAGAGTTGTGGAATACACTCCGTGTTTGCAGTGTGATGTCCTGTGCACCAAATGTTAAAGGAAACAAAACATAGCACAGATTTCTTGAC
pathogenic
174,650
For chromosome 11, position 36593620, gene RAG2 (recombination activating 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['Combined_immunodeficiency_with_skin_granulomas', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive']
ACTGGCAGCAATCTCCACATGTTAACTACACACACACACACACACACACACACACTCACACAAATACATTTCTTTTCCTCCATTTAAATCTTCTGCCTGTAAATGTCATGAAATTCTTTAAACTTACATTATTTTGGGAAATAATATTATTCTTCTCCATGAGATTTATTTGGTGGTCCTTTCTTATTGTATTCTTACTCACTTCCTTTTTCCAGAGTACTAAGTAGCAATGGGCTCCAGTTTTCCATGAAAATTCTCACAAATAATTAGTTCAAATGACTGACTTTGGCACATCATTCATGCATCATATAATGGGGAGGGGAAATCCTTAAAGAAAATGCATACAAGTAATTCAGGAAAACATGTCAAACTTGATGTAGATTATTTATTTCTTCTTTTGTGTCAGTGGAGAACATTATCTATCTATATGTATACATATATTTATATTTATATCTACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTCAGTGAAGAATAAATTAGTAAATTGAGTATTTGGGTAAAATATTTTCAAAATGTATAGGGTCTAGAATGACTTTATTTATCATTGCATTATAAACACTTTTTTCTGGCCCTTAATTCATGTAACTAAAAGAAAACATAGGCATTTTAAATAAACAAAAATGTATTTTTAAAATCAATGTTATGATTTTAAAAATAGATTCAAAAATTCCATACACCTGAATCTGAAAGGCTTTTGCAAAACTAATCAAACAACCTTCTAAGAAAGGATTTCTTGGCAGGAGTCAAGATTTTTCCAGAACCTTTTTTACGGAGGGATTTCATTGGAGGCTTTTTTAAGGGTAGGACTCTTTGGGGAGTGTGTAGAGCTCTTGCTATCTCCACATGCTCATTGCAGTAATACTTGTTGCTTCCTGCTGACAGATGGATGAGTGTGCGTTCTGCCAGATCCATGCACTGAGCATGGACCCAGTGCCCATCCCCATGAGAGCAGTAGATCATGGCGGGTTTGTTGAGCTCAGTTGAATAGAATGGTACCCAAGTGTTGATATCCACATCACAAGTAGGGCAGCATGTAATCCAGTAGCCTGTCTCAGACTCATCTTCTTCATCATCTTCATTATAGGTGTCAAATTCATCATCACCATCAAAACTATTTGCTTCTGCACTGAAACAAAATTCTTCAGAGTCTTCAAAGGGAGTGGAATCCCCTGGATCTTCTGTTGATGTTTGACTGTTTGTGAATGTTGTCTGCTCTTCATTAGTATCATCTTCAGCACATTTCAACATATAGAAATAGAATCCTTCTGAAACAACTTGTTTATTGTCTCCTGGTATGCCAAGAAAAACAGTTCCATTTCCCATGTTGCTTCCAAACCATATCTTGCTGTGCTTAATGTCTGGGGTCCAATCTGGGGTCTCCATCTCACGAATTTCTATCTTGTTGTCCTCTAAAGAGATGATGTTGCAGATCATTCTTTTTTGATTTTCAAGCTGATAGCCACCAACAATAACAAATTCATCATTGTTAGTTTGAGTCAGGATTGCACTGGAGACAGAGATTCCTCCTGGCAAGACTGTGCAATTCACAGCTGGGCTACCCAGGGGAAGATCAACCCTTATTCTGTACAGGTTGGCAGGCCGGATATTATTGGCAAGTGAATGTCCTCCTAAAATATAGATGGTGTCATTTTTGGCAATAGAGACATGAAAAGATAGCCCATCCTGAAGTTCTGGAAGAATGTATGATGTAGCACACCCAAATTCAAAATCCACCAGGAAAACACAGGGCAGGCAGTCAGCTACACTATTCCATTTTTCTGTGGTTCTGTGGGTAGAAGGCATGTATGAGCGTCCTCCAAAGAGAACACCCATACTTTTCCCTCGGCTGTACACCACATTAATGGAATGACCATATCTGGCTTCAGGAACATCTCCTACCAAGTCTTTCTCTGTGCAGCGAAAAGTAACCTTTTTGTTGTTCTTGCAAACAATAGACATGACATAAATCTTATCTGAAACCTCATTGTTTGGTGTTTTCCCTCCATGGATGATGTATTGATGCTTTTCAGACTCCAAGCTGCCTTTGAATGTGCAAGTGGCTGGGTAGCGAAGAGGAGGGAGGTAGCAGGAATCCTTAGAGAAAATTGTAGGCTTCAGTTTGACATGGTTATGCTTTACATCCAGATGGAAAACTCCAGTGGGGCAGGATCTTTTGGGCCAGCCTTTTTGTCCAAAGAAGAAAACTTGTCCATCAAAATTCATCAGTGAGAAGCCTGGCTGAATTAAGGCTATGTTATTACTGACTGTTACCATCTGCAGAGACATAGTTTCTGATGGTACGTAGATTTTTGTCTGAAAGAATTATAAAATAAAATGACTTAGAGATCGCTTCATATAATCATCGTATTTAGATTCCTTCACATGTGAATAGCATTTTTTTAAGTCCTCCCACACGCTTGCAGTGGGACTGAATGAGGAAAATCCAAGGAGTTAGGTCAGTAAAGAGCCACAGAACCTTTACTGCCATTCCATCCAAGGAGCTGGGACATGTTTTAGCCACGGACTATATGCTCCCTAGGATTTCTGGGAATTGTAGTCCTTTTCCGTAAAGAGTCACCATGCGTCAGCTGAAAGAACCACATTTCCCAAGAATCCGTTCTCTCTGGGATGTGTAGCTTTGGAAATCTGTCTTTGTTGCTCTGGGAGAGGGGACTCCTGGAATGTGTCTGTGAATAAAGACTAGCCGAAGGTGCGAAGTGACTAGACGGGAGCAAAGGAGGAAAACTAGGGAATGGGAGGTGAGAGTGGCTGACACCGACCCAACGTCCGGGTTGCCGGAAGGCTGCAGCGCCCGGAGCGGTGTCGGGCAAACCGCTACCCTGGTATTGCTGGAGCCTCTCCTGGGGACTTTTGAACAGGTGACCCGATAGGAAGCACAACTGCTTCTGTTGGAGTGCGGTTACCTGGAGACCGCAGTCTGAAGGGACTCCCGGCAGAGATGTCGTTACGGTGTCCTGCCTGTCTGGATGCTTAGGAGCGCGACTCAAAACTACACCCCTGACGACCCTGGAGGTGCTTGGGGCGGGAGGTTGAAGGGGGCACCGAGGTTACAAAAGCCGTGACTGTCTTACAGAACCGAAAGATGGATCTTTGAATCCCTAGAGTGCAGGGGAGACATTGCCTGTTAAAGATGTTTACCACTTCTACATTTAGTAATAGAAATACAGTTATTAGGTTTTAACGAGTGCACTTTGAAGGTCCTTTGTTTTCTTCACTGTTTTTACTCCTGTTTTTAGGGTTCTTTTAGGGAAGCAGAGAAGGTTCCTAAACACATCTTCTTTTCATCTTCATTCTAGGAAAATAGAGTTAGTGGCTTTTTCACATCTTTCCAGTCCAAGAACTTTTGGGTAATTCTTTAATAATTCTGTAGTAAGTAAGCAGGGACTAAGCATAGAAGTGTTTGAATTATTCAGAATTTCATACTTGTGTTACAACAAAAAGAATATTTACTAGATGAAGGAAGCTTGATAAATTTCTATTTTATTATTGTTTACCTTAGAGAGTTGTGGAATACACTCCGTGTTTGCAGTGTGATGTCCTGTGCACCAAATGTTAAAGGAAACAAAACATAGCACAGATTTCTTGACTTTTAAGAGTTAATTCTTAATATGCTTCAAAAGCAGTATAAACAATGGCTGAGTGTGGACTCTGAATGCTTACTGGCTGGATTCAAATCCTGGCTCTGCCACTAACTACATGACTTTGGGCAAGTTATGTAACCTCTGTGTGCCTCAGTTTCCTCATCTGAAAACTGAGATAATAAT
ACTGGCAGCAATCTCCACATGTTAACTACACACACACACACACACACACACACACTCACACAAATACATTTCTTTTCCTCCATTTAAATCTTCTGCCTGTAAATGTCATGAAATTCTTTAAACTTACATTATTTTGGGAAATAATATTATTCTTCTCCATGAGATTTATTTGGTGGTCCTTTCTTATTGTATTCTTACTCACTTCCTTTTTCCAGAGTACTAAGTAGCAATGGGCTCCAGTTTTCCATGAAAATTCTCACAAATAATTAGTTCAAATGACTGACTTTGGCACATCATTCATGCATCATATAATGGGGAGGGGAAATCCTTAAAGAAAATGCATACAAGTAATTCAGGAAAACATGTCAAACTTGATGTAGATTATTTATTTCTTCTTTTGTGTCAGTGGAGAACATTATCTATCTATATGTATACATATATTTATATTTATATCTACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTCAGTGAAGAATAAATTAGTAAATTGAGTATTTGGGTAAAATATTTTCAAAATGTATAGGGTCTAGAATGACTTTATTTATCATTGCATTATAAACACTTTTTTCTGGCCCTTAATTCATGTAACTAAAAGAAAACATAGGCATTTTAAATAAACAAAAATGTATTTTTAAAATCAATGTTATGATTTTAAAAATAGATTCAAAAATTCCATACACCTGAATCTGAAAGGCTTTTGCAAAACTAATCAAACAACCTTCTAAGAAAGGATTTCTTGGCAGGAGTCAAGATTTTTCCAGAACCTTTTTTACGGAGGGATTTCATTGGAGGCTTTTTTAAGGGTAGGACTCTTTGGGGAGTGTGTAGAGCTCTTGCTATCTCCACATGCTCATTGCAGTAATACTTGTTGCTTCCTGCTGACAGATGGATGAGTGTGCGTTCTGCCAGATCCATGCACTGAGCATGGACCCAGTGCCCATCCCCATGAGAGCAGTAGATCATGGCGGGTTTGTTGAGCTCAGTTGAATAGAATGGTACCCAAGTGTTGATATCCACATCACAAGTAGGGCAGCATGTAATCCAGTAGCCTGTCTCAGACTCATCTTCTTCATCATCTTCATTATAGGTGTCAAATTCATCATCACCATCAAAACTATTTGCTTCTGCACTGAAACAAAATTCTTCAGAGTCTTCAAAGGGAGTGGAATCCCCTGGATCTTCTGTTGATGTTTGACTGTTTGTGAATGTTGTCTGCTCTTCATTAGTATCATCTTCAGCACATTTCAACATATAGAAATAGAATCCTTCTGAAACAACTTGTTTATTGTCTCCTGGTATGCCAAGAAAAACAGTTCCATTTCCCATGTTGCTTCCAAACCATATCTTGCTGTGCTTAATGTCTGGGGTCCAATCTGGGGTCTCCATCTCACGAATTTCTATCTTGTTGTCCTCTAAAGAGATGATGTTGCAGATCATTCTTTTTTGATTTTCAAGCTGATAGCCACCAACAATAACAAATTCATCATTGTTAGTTTGAGTCAGGATTGCACTGGAGACAGAGATTCCTCCTGGCAAGACTGTGCAATTCACAGCTGGGCTACCCAGGGGAAGATCAACCCTTATTCTGTACAGGTTGGCAGGCCGGATATTATTGGCAAGTGAATGTCCTCCTAAAATATAGATGGTGTCATTTTTGGCAATAGAGACATGAAAAGATAGCCCATCCTGAAGTTCTGGAAGAATGTATGATGTAGCACACCCAAATTCAAAATCCACCAGGAAAAACACAGGGCAGGCAGTCAGCTACACTATTCCATTTTTCTGTGGTTCTGTGGGTAGAAGGCATGTATGAGCGTCCTCCAAAGAGAACACCCATACTTTTCCCTCGGCTGTACACCACATTAATGGAATGACCATATCTGGCTTCAGGAACATCTCCTACCAAGTCTTTCTCTGTGCAGCGAAAAGTAACCTTTTTGTTGTTCTTGCAAACAATAGACATGACATAAATCTTATCTGAAACCTCATTGTTTGGTGTTTTCCCTCCATGGATGATGTATTGATGCTTTTCAGACTCCAAGCTGCCTTTGAATGTGCAAGTGGCTGGGTAGCGAAGAGGAGGGAGGTAGCAGGAATCCTTAGAGAAAATTGTAGGCTTCAGTTTGACATGGTTATGCTTTACATCCAGATGGAAAACTCCAGTGGGGCAGGATCTTTTGGGCCAGCCTTTTTGTCCAAAGAAGAAAACTTGTCCATCAAAATTCATCAGTGAGAAGCCTGGCTGAATTAAGGCTATGTTATTACTGACTGTTACCATCTGCAGAGACATAGTTTCTGATGGTACGTAGATTTTTGTCTGAAAGAATTATAAAATAAAATGACTTAGAGATCGCTTCATATAATCATCGTATTTAGATTCCTTCACATGTGAATAGCATTTTTTTAAGTCCTCCCACACGCTTGCAGTGGGACTGAATGAGGAAAATCCAAGGAGTTAGGTCAGTAAAGAGCCACAGAACCTTTACTGCCATTCCATCCAAGGAGCTGGGACATGTTTTAGCCACGGACTATATGCTCCCTAGGATTTCTGGGAATTGTAGTCCTTTTCCGTAAAGAGTCACCATGCGTCAGCTGAAAGAACCACATTTCCCAAGAATCCGTTCTCTCTGGGATGTGTAGCTTTGGAAATCTGTCTTTGTTGCTCTGGGAGAGGGGACTCCTGGAATGTGTCTGTGAATAAAGACTAGCCGAAGGTGCGAAGTGACTAGACGGGAGCAAAGGAGGAAAACTAGGGAATGGGAGGTGAGAGTGGCTGACACCGACCCAACGTCCGGGTTGCCGGAAGGCTGCAGCGCCCGGAGCGGTGTCGGGCAAACCGCTACCCTGGTATTGCTGGAGCCTCTCCTGGGGACTTTTGAACAGGTGACCCGATAGGAAGCACAACTGCTTCTGTTGGAGTGCGGTTACCTGGAGACCGCAGTCTGAAGGGACTCCCGGCAGAGATGTCGTTACGGTGTCCTGCCTGTCTGGATGCTTAGGAGCGCGACTCAAAACTACACCCCTGACGACCCTGGAGGTGCTTGGGGCGGGAGGTTGAAGGGGGCACCGAGGTTACAAAAGCCGTGACTGTCTTACAGAACCGAAAGATGGATCTTTGAATCCCTAGAGTGCAGGGGAGACATTGCCTGTTAAAGATGTTTACCACTTCTACATTTAGTAATAGAAATACAGTTATTAGGTTTTAACGAGTGCACTTTGAAGGTCCTTTGTTTTCTTCACTGTTTTTACTCCTGTTTTTAGGGTTCTTTTAGGGAAGCAGAGAAGGTTCCTAAACACATCTTCTTTTCATCTTCATTCTAGGAAAATAGAGTTAGTGGCTTTTTCACATCTTTCCAGTCCAAGAACTTTTGGGTAATTCTTTAATAATTCTGTAGTAAGTAAGCAGGGACTAAGCATAGAAGTGTTTGAATTATTCAGAATTTCATACTTGTGTTACAACAAAAAGAATATTTACTAGATGAAGGAAGCTTGATAAATTTCTATTTTATTATTGTTTACCTTAGAGAGTTGTGGAATACACTCCGTGTTTGCAGTGTGATGTCCTGTGCACCAAATGTTAAAGGAAACAAAACATAGCACAGATTTCTTGACTTTTAAGAGTTAATTCTTAATATGCTTCAAAAGCAGTATAAACAATGGCTGAGTGTGGACTCTGAATGCTTACTGGCTGGATTCAAATCCTGGCTCTGCCACTAACTACATGACTTTGGGCAAGTTATGTAACCTCTGTGTGCCTCAGTTTCCTCATCTGAAAACTGAGATAATAA
pathogenic
174,656
Is the genetic variant on chromosome 11, position 36593779, gene RAG2 (recombination activating 2), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Combined_immunodeficiency_with_skin_granulomas', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive']
TGAGATTTATTTGGTGGTCCTTTCTTATTGTATTCTTACTCACTTCCTTTTTCCAGAGTACTAAGTAGCAATGGGCTCCAGTTTTCCATGAAAATTCTCACAAATAATTAGTTCAAATGACTGACTTTGGCACATCATTCATGCATCATATAATGGGGAGGGGAAATCCTTAAAGAAAATGCATACAAGTAATTCAGGAAAACATGTCAAACTTGATGTAGATTATTTATTTCTTCTTTTGTGTCAGTGGAGAACATTATCTATCTATATGTATACATATATTTATATTTATATCTACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTCAGTGAAGAATAAATTAGTAAATTGAGTATTTGGGTAAAATATTTTCAAAATGTATAGGGTCTAGAATGACTTTATTTATCATTGCATTATAAACACTTTTTTCTGGCCCTTAATTCATGTAACTAAAAGAAAACATAGGCATTTTAAATAAACAAAAATGTATTTTTAAAATCAATGTTATGATTTTAAAAATAGATTCAAAAATTCCATACACCTGAATCTGAAAGGCTTTTGCAAAACTAATCAAACAACCTTCTAAGAAAGGATTTCTTGGCAGGAGTCAAGATTTTTCCAGAACCTTTTTTACGGAGGGATTTCATTGGAGGCTTTTTTAAGGGTAGGACTCTTTGGGGAGTGTGTAGAGCTCTTGCTATCTCCACATGCTCATTGCAGTAATACTTGTTGCTTCCTGCTGACAGATGGATGAGTGTGCGTTCTGCCAGATCCATGCACTGAGCATGGACCCAGTGCCCATCCCCATGAGAGCAGTAGATCATGGCGGGTTTGTTGAGCTCAGTTGAATAGAATGGTACCCAAGTGTTGATATCCACATCACAAGTAGGGCAGCATGTAATCCAGTAGCCTGTCTCAGACTCATCTTCTTCATCATCTTCATTATAGGTGTCAAATTCATCATCACCATCAAAACTATTTGCTTCTGCACTGAAACAAAATTCTTCAGAGTCTTCAAAGGGAGTGGAATCCCCTGGATCTTCTGTTGATGTTTGACTGTTTGTGAATGTTGTCTGCTCTTCATTAGTATCATCTTCAGCACATTTCAACATATAGAAATAGAATCCTTCTGAAACAACTTGTTTATTGTCTCCTGGTATGCCAAGAAAAACAGTTCCATTTCCCATGTTGCTTCCAAACCATATCTTGCTGTGCTTAATGTCTGGGGTCCAATCTGGGGTCTCCATCTCACGAATTTCTATCTTGTTGTCCTCTAAAGAGATGATGTTGCAGATCATTCTTTTTTGATTTTCAAGCTGATAGCCACCAACAATAACAAATTCATCATTGTTAGTTTGAGTCAGGATTGCACTGGAGACAGAGATTCCTCCTGGCAAGACTGTGCAATTCACAGCTGGGCTACCCAGGGGAAGATCAACCCTTATTCTGTACAGGTTGGCAGGCCGGATATTATTGGCAAGTGAATGTCCTCCTAAAATATAGATGGTGTCATTTTTGGCAATAGAGACATGAAAAGATAGCCCATCCTGAAGTTCTGGAAGAATGTATGATGTAGCACACCCAAATTCAAAATCCACCAGGAAAACACAGGGCAGGCAGTCAGCTACACTATTCCATTTTTCTGTGGTTCTGTGGGTAGAAGGCATGTATGAGCGTCCTCCAAAGAGAACACCCATACTTTTCCCTCGGCTGTACACCACATTAATGGAATGACCATATCTGGCTTCAGGAACATCTCCTACCAAGTCTTTCTCTGTGCAGCGAAAAGTAACCTTTTTGTTGTTCTTGCAAACAATAGACATGACATAAATCTTATCTGAAACCTCATTGTTTGGTGTTTTCCCTCCATGGATGATGTATTGATGCTTTTCAGACTCCAAGCTGCCTTTGAATGTGCAAGTGGCTGGGTAGCGAAGAGGAGGGAGGTAGCAGGAATCCTTAGAGAAAATTGTAGGCTTCAGTTTGACATGGTTATGCTTTACATCCAGATGGAAAACTCCAGTGGGGCAGGATCTTTTGGGCCAGCCTTTTTGTCCAAAGAAGAAAACTTGTCCATCAAAATTCATCAGTGAGAAGCCTGGCTGAATTAAGGCTATGTTATTACTGACTGTTACCATCTGCAGAGACATAGTTTCTGATGGTACGTAGATTTTTGTCTGAAAGAATTATAAAATAAAATGACTTAGAGATCGCTTCATATAATCATCGTATTTAGATTCCTTCACATGTGAATAGCATTTTTTTAAGTCCTCCCACACGCTTGCAGTGGGACTGAATGAGGAAAATCCAAGGAGTTAGGTCAGTAAAGAGCCACAGAACCTTTACTGCCATTCCATCCAAGGAGCTGGGACATGTTTTAGCCACGGACTATATGCTCCCTAGGATTTCTGGGAATTGTAGTCCTTTTCCGTAAAGAGTCACCATGCGTCAGCTGAAAGAACCACATTTCCCAAGAATCCGTTCTCTCTGGGATGTGTAGCTTTGGAAATCTGTCTTTGTTGCTCTGGGAGAGGGGACTCCTGGAATGTGTCTGTGAATAAAGACTAGCCGAAGGTGCGAAGTGACTAGACGGGAGCAAAGGAGGAAAACTAGGGAATGGGAGGTGAGAGTGGCTGACACCGACCCAACGTCCGGGTTGCCGGAAGGCTGCAGCGCCCGGAGCGGTGTCGGGCAAACCGCTACCCTGGTATTGCTGGAGCCTCTCCTGGGGACTTTTGAACAGGTGACCCGATAGGAAGCACAACTGCTTCTGTTGGAGTGCGGTTACCTGGAGACCGCAGTCTGAAGGGACTCCCGGCAGAGATGTCGTTACGGTGTCCTGCCTGTCTGGATGCTTAGGAGCGCGACTCAAAACTACACCCCTGACGACCCTGGAGGTGCTTGGGGCGGGAGGTTGAAGGGGGCACCGAGGTTACAAAAGCCGTGACTGTCTTACAGAACCGAAAGATGGATCTTTGAATCCCTAGAGTGCAGGGGAGACATTGCCTGTTAAAGATGTTTACCACTTCTACATTTAGTAATAGAAATACAGTTATTAGGTTTTAACGAGTGCACTTTGAAGGTCCTTTGTTTTCTTCACTGTTTTTACTCCTGTTTTTAGGGTTCTTTTAGGGAAGCAGAGAAGGTTCCTAAACACATCTTCTTTTCATCTTCATTCTAGGAAAATAGAGTTAGTGGCTTTTTCACATCTTTCCAGTCCAAGAACTTTTGGGTAATTCTTTAATAATTCTGTAGTAAGTAAGCAGGGACTAAGCATAGAAGTGTTTGAATTATTCAGAATTTCATACTTGTGTTACAACAAAAAGAATATTTACTAGATGAAGGAAGCTTGATAAATTTCTATTTTATTATTGTTTACCTTAGAGAGTTGTGGAATACACTCCGTGTTTGCAGTGTGATGTCCTGTGCACCAAATGTTAAAGGAAACAAAACATAGCACAGATTTCTTGACTTTTAAGAGTTAATTCTTAATATGCTTCAAAAGCAGTATAAACAATGGCTGAGTGTGGACTCTGAATGCTTACTGGCTGGATTCAAATCCTGGCTCTGCCACTAACTACATGACTTTGGGCAAGTTATGTAACCTCTGTGTGCCTCAGTTTCCTCATCTGAAAACTGAGATAATAATTTTACCAACCTCATATATTGATGTCAGTTATGATTAATAGTTGAATATACGTAAAGTACTTAGAACAGGGATTTGCATATAGTAGACGATAGTTATGATTATTTTAAAATTTACCAAAAATAAGGTCTAGTGCATACGCACCTGCCAGTAATGGCAGTT
TGAGATTTATTTGGTGGTCCTTTCTTATTGTATTCTTACTCACTTCCTTTTTCCAGAGTACTAAGTAGCAATGGGCTCCAGTTTTCCATGAAAATTCTCACAAATAATTAGTTCAAATGACTGACTTTGGCACATCATTCATGCATCATATAATGGGGAGGGGAAATCCTTAAAGAAAATGCATACAAGTAATTCAGGAAAACATGTCAAACTTGATGTAGATTATTTATTTCTTCTTTTGTGTCAGTGGAGAACATTATCTATCTATATGTATACATATATTTATATTTATATCTACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTCAGTGAAGAATAAATTAGTAAATTGAGTATTTGGGTAAAATATTTTCAAAATGTATAGGGTCTAGAATGACTTTATTTATCATTGCATTATAAACACTTTTTTCTGGCCCTTAATTCATGTAACTAAAAGAAAACATAGGCATTTTAAATAAACAAAAATGTATTTTTAAAATCAATGTTATGATTTTAAAAATAGATTCAAAAATTCCATACACCTGAATCTGAAAGGCTTTTGCAAAACTAATCAAACAACCTTCTAAGAAAGGATTTCTTGGCAGGAGTCAAGATTTTTCCAGAACCTTTTTTACGGAGGGATTTCATTGGAGGCTTTTTTAAGGGTAGGACTCTTTGGGGAGTGTGTAGAGCTCTTGCTATCTCCACATGCTCATTGCAGTAATACTTGTTGCTTCCTGCTGACAGATGGATGAGTGTGCGTTCTGCCAGATCCATGCACTGAGCATGGACCCAGTGCCCATCCCCATGAGAGCAGTAGATCATGGCGGGTTTGTTGAGCTCAGTTGAATAGAATGGTACCCAAGTGTTGATATCCACATCACAAGTAGGGCAGCATGTAATCCAGTAGCCTGTCTCAGACTCATCTTCTTCATCATCTTCATTATAGGTGTCAAATTCATCATCACCATCAAAACTATTTGCTTCTGCACTGAAACAAAATTCTTCAGAGTCTTCAAAGGGAGTGGAATCCCCTGGATCTTCTGTTGATGTTTGACTGTTTGTGAATGTTGTCTGCTCTTCATTAGTATCATCTTCAGCACATTTCAACATATAGAAATAGAATCCTTCTGAAACAACTTGTTTATTGTCTCCTGGTATGCCAAGAAAAACAGTTCCATTTCCCATGTTGCTTCCAAACCATATCTTGCTGTGCTTAATGTCTGGGGTCCAATCTGGGGTCTCCATCTCACGAATTTCTATCTTGTTGTCCTCTAAAGAGATGATGTTGCAGATCATTCTTTTTTGATTTTCAAGCTGATAGCCACCAACAATAACAAATTCATCATTGTTAGTTTGAGTCAGGATTGCACTGGAGACAGAGATTCCTCCTGGCAAGACTGTGCAATTCACAGCTGGGCTACCCAGGGGAAGATCAACCCTTATTCTGTACAGGTTGGCAGGCCGGATATTATTGGCAAGTGAATGTCCTCCTAAAATATAGATGGTGTCATTTTTGGCAATAGAGACATGAAAAGATAGCCCATCCTGAAGTTCTGGAAGAATGTATGATGTAGCACACCCAAATTCAAAATCCACCAGGAAAACACAGGGCAGGCAGTCAGCTACACTATTCCATTTTTCTGTGGTTCTGTGGGTAGAAGGCATGTATGAGCGTCCTCCAAAGAGAACACCCATACTTTTCCCTCGGCTGTACACCACATTAATGGAATGACCATATCTGGCTTCAGGAACATCTCCTGTCTTTCTCTGTGCAGCGAAAAGTAACCTTTTTGTTGTTCTTGCAAACAATAGACATGACATAAATCTTATCTGAAACCTCATTGTTTGGTGTTTTCCCTCCATGGATGATGTATTGATGCTTTTCAGACTCCAAGCTGCCTTTGAATGTGCAAGTGGCTGGGTAGCGAAGAGGAGGGAGGTAGCAGGAATCCTTAGAGAAAATTGTAGGCTTCAGTTTGACATGGTTATGCTTTACATCCAGATGGAAAACTCCAGTGGGGCAGGATCTTTTGGGCCAGCCTTTTTGTCCAAAGAAGAAAACTTGTCCATCAAAATTCATCAGTGAGAAGCCTGGCTGAATTAAGGCTATGTTATTACTGACTGTTACCATCTGCAGAGACATAGTTTCTGATGGTACGTAGATTTTTGTCTGAAAGAATTATAAAATAAAATGACTTAGAGATCGCTTCATATAATCATCGTATTTAGATTCCTTCACATGTGAATAGCATTTTTTTAAGTCCTCCCACACGCTTGCAGTGGGACTGAATGAGGAAAATCCAAGGAGTTAGGTCAGTAAAGAGCCACAGAACCTTTACTGCCATTCCATCCAAGGAGCTGGGACATGTTTTAGCCACGGACTATATGCTCCCTAGGATTTCTGGGAATTGTAGTCCTTTTCCGTAAAGAGTCACCATGCGTCAGCTGAAAGAACCACATTTCCCAAGAATCCGTTCTCTCTGGGATGTGTAGCTTTGGAAATCTGTCTTTGTTGCTCTGGGAGAGGGGACTCCTGGAATGTGTCTGTGAATAAAGACTAGCCGAAGGTGCGAAGTGACTAGACGGGAGCAAAGGAGGAAAACTAGGGAATGGGAGGTGAGAGTGGCTGACACCGACCCAACGTCCGGGTTGCCGGAAGGCTGCAGCGCCCGGAGCGGTGTCGGGCAAACCGCTACCCTGGTATTGCTGGAGCCTCTCCTGGGGACTTTTGAACAGGTGACCCGATAGGAAGCACAACTGCTTCTGTTGGAGTGCGGTTACCTGGAGACCGCAGTCTGAAGGGACTCCCGGCAGAGATGTCGTTACGGTGTCCTGCCTGTCTGGATGCTTAGGAGCGCGACTCAAAACTACACCCCTGACGACCCTGGAGGTGCTTGGGGCGGGAGGTTGAAGGGGGCACCGAGGTTACAAAAGCCGTGACTGTCTTACAGAACCGAAAGATGGATCTTTGAATCCCTAGAGTGCAGGGGAGACATTGCCTGTTAAAGATGTTTACCACTTCTACATTTAGTAATAGAAATACAGTTATTAGGTTTTAACGAGTGCACTTTGAAGGTCCTTTGTTTTCTTCACTGTTTTTACTCCTGTTTTTAGGGTTCTTTTAGGGAAGCAGAGAAGGTTCCTAAACACATCTTCTTTTCATCTTCATTCTAGGAAAATAGAGTTAGTGGCTTTTTCACATCTTTCCAGTCCAAGAACTTTTGGGTAATTCTTTAATAATTCTGTAGTAAGTAAGCAGGGACTAAGCATAGAAGTGTTTGAATTATTCAGAATTTCATACTTGTGTTACAACAAAAAGAATATTTACTAGATGAAGGAAGCTTGATAAATTTCTATTTTATTATTGTTTACCTTAGAGAGTTGTGGAATACACTCCGTGTTTGCAGTGTGATGTCCTGTGCACCAAATGTTAAAGGAAACAAAACATAGCACAGATTTCTTGACTTTTAAGAGTTAATTCTTAATATGCTTCAAAAGCAGTATAAACAATGGCTGAGTGTGGACTCTGAATGCTTACTGGCTGGATTCAAATCCTGGCTCTGCCACTAACTACATGACTTTGGGCAAGTTATGTAACCTCTGTGTGCCTCAGTTTCCTCATCTGAAAACTGAGATAATAATTTTACCAACCTCATATATTGATGTCAGTTATGATTAATAGTTGAATATACGTAAAGTACTTAGAACAGGGATTTGCATATAGTAGACGATAGTTATGATTATTTTAAAATTTACCAAAAATAAGGTCTAGTGCATACGCACCTGCCAGTAATGGCAGTTNNNNN
pathogenic
174,662
A genetic alteration at chromosome 11, position 44107796, in gene EXT2 (exostosin glycosyltransferase 2)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['Exostoses,_multiple,_type_2']
GATCTTAAAATGTGGTCTACATGGGAACTCTACATTTTTAGCTGAGGACTACAAATTTTCTTTACATCTCAGTCAATAATGCTTATTGGCTGTTTTATATATCTATAGCTGTATAACAAACCACCCCAAAACTTAGAAGCTTTAAACAACAACAGTCATTTATTTGCTGATGATTGTGGAATCTATGCAGAGCTTGGTGGGGATGGCTCATCTCTTCCCTAATGGTTTTGACTGAGATCTCCGTGTCCACTGGGGCAGGTTGCCTTCCACTGGGAGCTCAGCTTCCTTAGAGCATGGCGGCTGGATTCGAAGAGTGCAAAGGCAGACTCTATAGGGCCTCTCAAGTCTTGTGCTCAAAAATCCCAAAACATCACTTCAGCCACATTTTCTTGGTCAAAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACATGGATTCTACATTTTGTTTGGAGAAGTACCATGCAAATTCAGGGATGGAAAGAACTGTTGGTGTTCGTCTTTGTAAATGAATCTACCACATTGGCCCTTTTCCTCCCTTTCTCCCTTCTCTCTCTTTCTCTTCCTTTTCCTCCCTCCCTTTGTCTCTCCTACCCCATTCCTTTCTTCATTTCTTCCATTTATCTAAATGCAACTATCACCTTCATTATAAATCATCACTATATGTTTTATTTGAAGATGAAAGATTAATTTTTTTTCTTATTGATATCCTTTTGTACTTAATCGATACTTTCCTAGTGGTGTTTTTACATTCTGCCTTTTGTTATAGCTTTGTTTTCTCTCCCTCATTAGAGTAGGGTCTTTGCTTTCATCTTTGTTTTCTTCACAGTACATGATGGGTGCTCAATAATGGTTTGAATGAATAAGTGAACGAAAACAGATTTTTTTTTTTATGACACAGAGTCTTGCTCTGTCACTTGGGCTGGAGTGCAGTGGCACGATCTCGGCTCACCGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAATTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAGGTGCTGGGATTATAGACGTGAGCCACCGCACATGGCTGAAAACAGATTTTGGAATGATGAAGCTTCAGTTTGTCCAGTTAAATCATTATTTTATGTTAAGCAAGTGTTTTGAAATAAAATAACTGTCTTTTGCTATTCCACTTTTGATTTTTCTGCCTTGGTCAGAGCCCTCCTTCCCAGAGTCCCACATTTGCCAGCTTCTGCTTTAAGTAAATGTATATTGATAGGGTATAGTAATATTTTATATTATGAATTAATATTTATGTTAAATATATGCAGTATTAAATATTAAATACATTATATACTATTTATTCATATATCTAGATATATATTTCTAAATGTTTATAAGAAGTGTCCAAAGTCCCTTTTTGTTATTTCACCACACCACTTAAGGGAAAGAAATAGGTACATTAAAAGTAGAGGCTGGGCGCGGTGGCTTATGCCTATGATCCTAGCATTTTGGGAGGCCGAGGCAGGCTGATAGATTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAGACTCCTTCTCTACTAAAAATGCAAAAAATTAGCTGGGCGTGGTGGTCACAGTTACTTGGGAGGCCAAAGTGGGAGGATTGCTTGAGCCTGGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGTGAAACCCTGTCTCAAAACAAAACAAAACAAAAAAAAAGGTTGAATAGTCTTTTCAAGTGTCATTTGCCATCCTAAATACTTGGTTTTTCTTATTTCTCTCCCTGGTGACCAGGAGTGTGAGGAAGAGGCTGTCTGTGTCATTATGTGTGCGTCGGTCAAGTATAATATCCGGGGTCCTGCCCTCATCCCAAGAATGAAGACCAAGCACCGAATCTACTATATCACCCTCTTCTCCATTGTCCTCCTGGGCCTCATTGCCACTGGCATGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAATGACTGGAATGTAGAGAAGCGCAGCATCCGTGATGTGCCGGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGAATGCACACGTGTTTTGATGTCTATCGCTGTGGCTTCAACCCAAAGAACAAAATCAAGGTGTATATCTATGCTCTGAAAAAGTACGTGGATGACTTTGGCGTCTCTGTCAGCAACACCATCTCCCGGGAGTATAATGAACTGCTCATGGCCATCTCAGACAGTGACTACTACACTGATGACATCAACCGGGCCTGTCTGTTTGTTCCCTCCATCGATGTGCTTAACCAGAACACACTGCGCATCAAGGAGACAGCACAAGCGATGGCCCAGCTCTCTAGGTATCTCACACTCATACAGCCCAGCCCCCAGGAGATACTTGAGTGGCCCTCAGGGAACTAAAGGGAAGGGAAGGATGGGAATGCTTCTGCTCTTGAGTTGGTTTCCCGATGCTGTCTTCTTGCAGGACGGGGTGTGTTGGAGGGACTGACTTGCAGCATGAGGCCTGTGTGGCAGCATCTGCCTGTGTGCCCGTGAAGAGTAGTCTGCCATCTCCGGCACTACTGCTGTGGGTTCCCAGCCTCTTAGAGTTTCCAAACTAAGCGTGGCTCTTCTTCATTTATTCTTCCTTTTAAATCTAAATATGCTACCACCTCCTCGTAGCACTTACATAATACACATTCACTGTAAGAAATCTGAAAATACAGGTAAGCAAAAAGAAGAATCTAAGATTCATTCTGAAATCCTTCCTCTAAGAGATAAACATTATTAATATTTTGATGTTACTAAAAATACACATACACATCTGTATATAAATGTTTTGTTCCAAATGGGATCACACAGTACATACTCTTTTGCTTTTTCCCTTAATATATCATGAATATATTTCCAAATTATGACATAATTTTATGTTCTTTTACTATATAACTTTAAGGGTTGCATAGTATTCCATTTTGCAGATGTTCTACCATATATTTAACCAGGCTTCTCTAATGTATTTTGTGTTTCTTTAACCAAATGGTGAACATTTGGGTAGTTTTCAACTTTTCATTATTAGAAGCAGGTCTGTATGGGACAAGCTTGAAGTACACGTGCGTTCATTTTTCCCTGTCATGGAGCCAGACTTGTGTCTGATGTGCTGTTGGGATTTCCAGGAGTTTGCTTTGCATACCTGAGAAGCGGCCCTATTTGGGCTTGGGGATCCTTGATAGTTGTTGTCTAGTAACTGACTCTTGTCTTTTCATAGTTGACACATTAATTCTCCTACATTTTAAATTTCTTGACAGGTGGGATCGAGGTACGAATCACCTGTTGTTCAACATGTTGCCTGGAGGTCCCCCAGATTATAACACAGCCCTGGATGTCCCCAGAGACAGGTAGGAGGCATATTTGGGGCTGTCCTTATGATGGGTTCAAGATCATTTTGTTCATGTGAAATTATATTCCTAAATCTACCACATACTTTGTAATCAGAATTGTTTATTAAACTAGAAAATTGTCATAAGTATTTTCCTCCTGAAGATTTAGAAGTGCTTAAATCTTTTATGGAAAACCAGTTAGGGCTTATGTCCTGGCATAGCCTCTAAAACTGTTTTCCCACTCTGGATTGTGCACTTCTGAGTGTAACACATCCAGCCCCCAAAAGTGTGACAGGCTTGTGCTAGCTCTCTCTGAATTCGGGAGCATTTGCCACAAGTAGATGCACAGCTTACTGAGAGAAGGTAGCGTGGATATGTAAAAGCGATACCCAAAGCCTATAATGTAGAGGGTAATGGGGGCACGCTGATTCTCATTTACTTTCTGTTGTTTCAATCAGTAGGGTTCTTTCTGTCCGTTCCTCCCTCCCTCCCTGCCTGCCTGCCTTCATTATTCGCCCCTCTTGCCTTTCGTTCCTTCCAGAAAAACCTTCCAAATAGGCAGATGTGGTATGGGGTGG
GATCTTAAAATGTGGTCTACATGGGAACTCTACATTTTTAGCTGAGGACTACAAATTTTCTTTACATCTCAGTCAATAATGCTTATTGGCTGTTTTATATATCTATAGCTGTATAACAAACCACCCCAAAACTTAGAAGCTTTAAACAACAACAGTCATTTATTTGCTGATGATTGTGGAATCTATGCAGAGCTTGGTGGGGATGGCTCATCTCTTCCCTAATGGTTTTGACTGAGATCTCCGTGTCCACTGGGGCAGGTTGCCTTCCACTGGGAGCTCAGCTTCCTTAGAGCATGGCGGCTGGATTCGAAGAGTGCAAAGGCAGACTCTATAGGGCCTCTCAAGTCTTGTGCTCAAAAATCCCAAAACATCACTTCAGCCACATTTTCTTGGTCAAAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACATGGATTCTACATTTTGTTTGGAGAAGTACCATGCAAATTCAGGGATGGAAAGAACTGTTGGTGTTCGTCTTTGTAAATGAATCTACCACATTGGCCCTTTTCCTCCCTTTCTCCCTTCTCTCTCTTTCTCTTCCTTTTCCTCCCTCCCTTTGTCTCTCCTACCCCATTCCTTTCTTCATTTCTTCCATTTATCTAAATGCAACTATCACCTTCATTATAAATCATCACTATATGTTTTATTTGAAGATGAAAGATTAATTTTTTTTCTTATTGATATCCTTTTGTACTTAATCGATACTTTCCTAGTGGTGTTTTTACATTCTGCCTTTTGTTATAGCTTTGTTTTCTCTCCCTCATTAGAGTAGGGTCTTTGCTTTCATCTTTGTTTTCTTCACAGTACATGATGGGTGCTCAATAATGGTTTGAATGAATAAGTGAACGAAAACAGATTTTTTTTTTTATGACACAGAGTCTTGCTCTGTCACTTGGGCTGGAGTGCAGTGGCACGATCTCGGCTCACCGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAATTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAGGTGCTGGGATTATAGACGTGAGCCACCGCACATGGCTGAAAACAGATTTTGGAATGATGAAGCTTCAGTTTGTCCAGTTAAATCATTATTTTATGTTAAGCAAGTGTTTTGAAATAAAATAACTGTCTTTTGCTATTCCACTTTTGATTTTTCTGCCTTGGTCAGAGCCCTCCTTCCCAGAGTCCCACATTTGCCAGCTTCTGCTTTAAGTAAATGTATATTGATAGGGTATAGTAATATTTTATATTATGAATTAATATTTATGTTAAATATATGCAGTATTAAATATTAAATACATTATATACTATTTATTCATATATCTAGATATATATTTCTAAATGTTTATAAGAAGTGTCCAAAGTCCCTTTTTGTTATTTCACCACACCACTTAAGGGAAAGAAATAGGTACATTAAAAGTAGAGGCTGGGCGCGGTGGCTTATGCCTATGATCCTAGCATTTTGGGAGGCCGAGGCAGGCTGATAGATTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAGACTCCTTCTCTACTAAAAATGCAAAAAATTAGCTGGGCGTGGTGGTCACAGTTACTTGGGAGGCCAAAGTGGGAGGATTGCTTGAGCCTGGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGTGAAACCCTGTCTCAAAACAAAACAAAACAAAAAAAAAGGTTGAATAGTCTTTTCAAGTGTCATTTGCCATCCTAAATACTTGGTTTTTCTTATTTCTCTCCCTGGTGACCAGGAGTGTGAGGAAGAGGCTGTCTGTGTCATTATGTGTGCGTCGGTCAAGTATAATATCCGGGGTCCTGCCCTCATCCCAAGAATGAAGACCAAGCACCGAATCTACTATATCACCCTTCTCCATTGTCCTCCTGGGCCTCATTGCCACTGGCATGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAATGACTGGAATGTAGAGAAGCGCAGCATCCGTGATGTGCCGGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGAATGCACACGTGTTTTGATGTCTATCGCTGTGGCTTCAACCCAAAGAACAAAATCAAGGTGTATATCTATGCTCTGAAAAAGTACGTGGATGACTTTGGCGTCTCTGTCAGCAACACCATCTCCCGGGAGTATAATGAACTGCTCATGGCCATCTCAGACAGTGACTACTACACTGATGACATCAACCGGGCCTGTCTGTTTGTTCCCTCCATCGATGTGCTTAACCAGAACACACTGCGCATCAAGGAGACAGCACAAGCGATGGCCCAGCTCTCTAGGTATCTCACACTCATACAGCCCAGCCCCCAGGAGATACTTGAGTGGCCCTCAGGGAACTAAAGGGAAGGGAAGGATGGGAATGCTTCTGCTCTTGAGTTGGTTTCCCGATGCTGTCTTCTTGCAGGACGGGGTGTGTTGGAGGGACTGACTTGCAGCATGAGGCCTGTGTGGCAGCATCTGCCTGTGTGCCCGTGAAGAGTAGTCTGCCATCTCCGGCACTACTGCTGTGGGTTCCCAGCCTCTTAGAGTTTCCAAACTAAGCGTGGCTCTTCTTCATTTATTCTTCCTTTTAAATCTAAATATGCTACCACCTCCTCGTAGCACTTACATAATACACATTCACTGTAAGAAATCTGAAAATACAGGTAAGCAAAAAGAAGAATCTAAGATTCATTCTGAAATCCTTCCTCTAAGAGATAAACATTATTAATATTTTGATGTTACTAAAAATACACATACACATCTGTATATAAATGTTTTGTTCCAAATGGGATCACACAGTACATACTCTTTTGCTTTTTCCCTTAATATATCATGAATATATTTCCAAATTATGACATAATTTTATGTTCTTTTACTATATAACTTTAAGGGTTGCATAGTATTCCATTTTGCAGATGTTCTACCATATATTTAACCAGGCTTCTCTAATGTATTTTGTGTTTCTTTAACCAAATGGTGAACATTTGGGTAGTTTTCAACTTTTCATTATTAGAAGCAGGTCTGTATGGGACAAGCTTGAAGTACACGTGCGTTCATTTTTCCCTGTCATGGAGCCAGACTTGTGTCTGATGTGCTGTTGGGATTTCCAGGAGTTTGCTTTGCATACCTGAGAAGCGGCCCTATTTGGGCTTGGGGATCCTTGATAGTTGTTGTCTAGTAACTGACTCTTGTCTTTTCATAGTTGACACATTAATTCTCCTACATTTTAAATTTCTTGACAGGTGGGATCGAGGTACGAATCACCTGTTGTTCAACATGTTGCCTGGAGGTCCCCCAGATTATAACACAGCCCTGGATGTCCCCAGAGACAGGTAGGAGGCATATTTGGGGCTGTCCTTATGATGGGTTCAAGATCATTTTGTTCATGTGAAATTATATTCCTAAATCTACCACATACTTTGTAATCAGAATTGTTTATTAAACTAGAAAATTGTCATAAGTATTTTCCTCCTGAAGATTTAGAAGTGCTTAAATCTTTTATGGAAAACCAGTTAGGGCTTATGTCCTGGCATAGCCTCTAAAACTGTTTTCCCACTCTGGATTGTGCACTTCTGAGTGTAACACATCCAGCCCCCAAAAGTGTGACAGGCTTGTGCTAGCTCTCTCTGAATTCGGGAGCATTTGCCACAAGTAGATGCACAGCTTACTGAGAGAAGGTAGCGTGGATATGTAAAAGCGATACCCAAAGCCTATAATGTAGAGGGTAATGGGGGCACGCTGATTCTCATTTACTTTCTGTTGTTTCAATCAGTAGGGTTCTTTCTGTCCGTTCCTCCCTCCCTCCCTGCCTGCCTGCCTTCATTATTCGCCCCTCTTGCCTTTCGTTCCTTCCAGAAAAACCTTCCAAATAGGCAGATGTGGTATGGGGTGGNN
pathogenic
174,690
Variant in EXT2 (exostosin glycosyltransferase 2), chromosome 11, position 44107914—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Exostoses,_multiple,_type_2']
AACCACCCCAAAACTTAGAAGCTTTAAACAACAACAGTCATTTATTTGCTGATGATTGTGGAATCTATGCAGAGCTTGGTGGGGATGGCTCATCTCTTCCCTAATGGTTTTGACTGAGATCTCCGTGTCCACTGGGGCAGGTTGCCTTCCACTGGGAGCTCAGCTTCCTTAGAGCATGGCGGCTGGATTCGAAGAGTGCAAAGGCAGACTCTATAGGGCCTCTCAAGTCTTGTGCTCAAAAATCCCAAAACATCACTTCAGCCACATTTTCTTGGTCAAAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACATGGATTCTACATTTTGTTTGGAGAAGTACCATGCAAATTCAGGGATGGAAAGAACTGTTGGTGTTCGTCTTTGTAAATGAATCTACCACATTGGCCCTTTTCCTCCCTTTCTCCCTTCTCTCTCTTTCTCTTCCTTTTCCTCCCTCCCTTTGTCTCTCCTACCCCATTCCTTTCTTCATTTCTTCCATTTATCTAAATGCAACTATCACCTTCATTATAAATCATCACTATATGTTTTATTTGAAGATGAAAGATTAATTTTTTTTCTTATTGATATCCTTTTGTACTTAATCGATACTTTCCTAGTGGTGTTTTTACATTCTGCCTTTTGTTATAGCTTTGTTTTCTCTCCCTCATTAGAGTAGGGTCTTTGCTTTCATCTTTGTTTTCTTCACAGTACATGATGGGTGCTCAATAATGGTTTGAATGAATAAGTGAACGAAAACAGATTTTTTTTTTTATGACACAGAGTCTTGCTCTGTCACTTGGGCTGGAGTGCAGTGGCACGATCTCGGCTCACCGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAATTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAGGTGCTGGGATTATAGACGTGAGCCACCGCACATGGCTGAAAACAGATTTTGGAATGATGAAGCTTCAGTTTGTCCAGTTAAATCATTATTTTATGTTAAGCAAGTGTTTTGAAATAAAATAACTGTCTTTTGCTATTCCACTTTTGATTTTTCTGCCTTGGTCAGAGCCCTCCTTCCCAGAGTCCCACATTTGCCAGCTTCTGCTTTAAGTAAATGTATATTGATAGGGTATAGTAATATTTTATATTATGAATTAATATTTATGTTAAATATATGCAGTATTAAATATTAAATACATTATATACTATTTATTCATATATCTAGATATATATTTCTAAATGTTTATAAGAAGTGTCCAAAGTCCCTTTTTGTTATTTCACCACACCACTTAAGGGAAAGAAATAGGTACATTAAAAGTAGAGGCTGGGCGCGGTGGCTTATGCCTATGATCCTAGCATTTTGGGAGGCCGAGGCAGGCTGATAGATTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAGACTCCTTCTCTACTAAAAATGCAAAAAATTAGCTGGGCGTGGTGGTCACAGTTACTTGGGAGGCCAAAGTGGGAGGATTGCTTGAGCCTGGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGTGAAACCCTGTCTCAAAACAAAACAAAACAAAAAAAAAGGTTGAATAGTCTTTTCAAGTGTCATTTGCCATCCTAAATACTTGGTTTTTCTTATTTCTCTCCCTGGTGACCAGGAGTGTGAGGAAGAGGCTGTCTGTGTCATTATGTGTGCGTCGGTCAAGTATAATATCCGGGGTCCTGCCCTCATCCCAAGAATGAAGACCAAGCACCGAATCTACTATATCACCCTCTTCTCCATTGTCCTCCTGGGCCTCATTGCCACTGGCATGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAATGACTGGAATGTAGAGAAGCGCAGCATCCGTGATGTGCCGGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGAATGCACACGTGTTTTGATGTCTATCGCTGTGGCTTCAACCCAAAGAACAAAATCAAGGTGTATATCTATGCTCTGAAAAAGTACGTGGATGACTTTGGCGTCTCTGTCAGCAACACCATCTCCCGGGAGTATAATGAACTGCTCATGGCCATCTCAGACAGTGACTACTACACTGATGACATCAACCGGGCCTGTCTGTTTGTTCCCTCCATCGATGTGCTTAACCAGAACACACTGCGCATCAAGGAGACAGCACAAGCGATGGCCCAGCTCTCTAGGTATCTCACACTCATACAGCCCAGCCCCCAGGAGATACTTGAGTGGCCCTCAGGGAACTAAAGGGAAGGGAAGGATGGGAATGCTTCTGCTCTTGAGTTGGTTTCCCGATGCTGTCTTCTTGCAGGACGGGGTGTGTTGGAGGGACTGACTTGCAGCATGAGGCCTGTGTGGCAGCATCTGCCTGTGTGCCCGTGAAGAGTAGTCTGCCATCTCCGGCACTACTGCTGTGGGTTCCCAGCCTCTTAGAGTTTCCAAACTAAGCGTGGCTCTTCTTCATTTATTCTTCCTTTTAAATCTAAATATGCTACCACCTCCTCGTAGCACTTACATAATACACATTCACTGTAAGAAATCTGAAAATACAGGTAAGCAAAAAGAAGAATCTAAGATTCATTCTGAAATCCTTCCTCTAAGAGATAAACATTATTAATATTTTGATGTTACTAAAAATACACATACACATCTGTATATAAATGTTTTGTTCCAAATGGGATCACACAGTACATACTCTTTTGCTTTTTCCCTTAATATATCATGAATATATTTCCAAATTATGACATAATTTTATGTTCTTTTACTATATAACTTTAAGGGTTGCATAGTATTCCATTTTGCAGATGTTCTACCATATATTTAACCAGGCTTCTCTAATGTATTTTGTGTTTCTTTAACCAAATGGTGAACATTTGGGTAGTTTTCAACTTTTCATTATTAGAAGCAGGTCTGTATGGGACAAGCTTGAAGTACACGTGCGTTCATTTTTCCCTGTCATGGAGCCAGACTTGTGTCTGATGTGCTGTTGGGATTTCCAGGAGTTTGCTTTGCATACCTGAGAAGCGGCCCTATTTGGGCTTGGGGATCCTTGATAGTTGTTGTCTAGTAACTGACTCTTGTCTTTTCATAGTTGACACATTAATTCTCCTACATTTTAAATTTCTTGACAGGTGGGATCGAGGTACGAATCACCTGTTGTTCAACATGTTGCCTGGAGGTCCCCCAGATTATAACACAGCCCTGGATGTCCCCAGAGACAGGTAGGAGGCATATTTGGGGCTGTCCTTATGATGGGTTCAAGATCATTTTGTTCATGTGAAATTATATTCCTAAATCTACCACATACTTTGTAATCAGAATTGTTTATTAAACTAGAAAATTGTCATAAGTATTTTCCTCCTGAAGATTTAGAAGTGCTTAAATCTTTTATGGAAAACCAGTTAGGGCTTATGTCCTGGCATAGCCTCTAAAACTGTTTTCCCACTCTGGATTGTGCACTTCTGAGTGTAACACATCCAGCCCCCAAAAGTGTGACAGGCTTGTGCTAGCTCTCTCTGAATTCGGGAGCATTTGCCACAAGTAGATGCACAGCTTACTGAGAGAAGGTAGCGTGGATATGTAAAAGCGATACCCAAAGCCTATAATGTAGAGGGTAATGGGGGCACGCTGATTCTCATTTACTTTCTGTTGTTTCAATCAGTAGGGTTCTTTCTGTCCGTTCCTCCCTCCCTCCCTGCCTGCCTGCCTTCATTATTCGCCCCTCTTGCCTTTCGTTCCTTCCAGAAAAACCTTCCAAATAGGCAGATGTGGTATGGGGTGGCCATGACTGCCTGAGAGTGACTTTGAGTTCACTCACTGTATTTATCTGCCCTTTCATCACTGACTGAAAGATTTTGGTATGAGCTTTCTTGGAAAGCTCTGGTATGAGGTGCTACTTA
AACCACCCCAAAACTTAGAAGCTTTAAACAACAACAGTCATTTATTTGCTGATGATTGTGGAATCTATGCAGAGCTTGGTGGGGATGGCTCATCTCTTCCCTAATGGTTTTGACTGAGATCTCCGTGTCCACTGGGGCAGGTTGCCTTCCACTGGGAGCTCAGCTTCCTTAGAGCATGGCGGCTGGATTCGAAGAGTGCAAAGGCAGACTCTATAGGGCCTCTCAAGTCTTGTGCTCAAAAATCCCAAAACATCACTTCAGCCACATTTTCTTGGTCAAAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACATGGATTCTACATTTTGTTTGGAGAAGTACCATGCAAATTCAGGGATGGAAAGAACTGTTGGTGTTCGTCTTTGTAAATGAATCTACCACATTGGCCCTTTTCCTCCCTTTCTCCCTTCTCTCTCTTTCTCTTCCTTTTCCTCCCTCCCTTTGTCTCTCCTACCCCATTCCTTTCTTCATTTCTTCCATTTATCTAAATGCAACTATCACCTTCATTATAAATCATCACTATATGTTTTATTTGAAGATGAAAGATTAATTTTTTTTCTTATTGATATCCTTTTGTACTTAATCGATACTTTCCTAGTGGTGTTTTTACATTCTGCCTTTTGTTATAGCTTTGTTTTCTCTCCCTCATTAGAGTAGGGTCTTTGCTTTCATCTTTGTTTTCTTCACAGTACATGATGGGTGCTCAATAATGGTTTGAATGAATAAGTGAACGAAAACAGATTTTTTTTTTTATGACACAGAGTCTTGCTCTGTCACTTGGGCTGGAGTGCAGTGGCACGATCTCGGCTCACCGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAATTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAGGTGCTGGGATTATAGACGTGAGCCACCGCACATGGCTGAAAACAGATTTTGGAATGATGAAGCTTCAGTTTGTCCAGTTAAATCATTATTTTATGTTAAGCAAGTGTTTTGAAATAAAATAACTGTCTTTTGCTATTCCACTTTTGATTTTTCTGCCTTGGTCAGAGCCCTCCTTCCCAGAGTCCCACATTTGCCAGCTTCTGCTTTAAGTAAATGTATATTGATAGGGTATAGTAATATTTTATATTATGAATTAATATTTATGTTAAATATATGCAGTATTAAATATTAAATACATTATATACTATTTATTCATATATCTAGATATATATTTCTAAATGTTTATAAGAAGTGTCCAAAGTCCCTTTTTGTTATTTCACCACACCACTTAAGGGAAAGAAATAGGTACATTAAAAGTAGAGGCTGGGCGCGGTGGCTTATGCCTATGATCCTAGCATTTTGGGAGGCCGAGGCAGGCTGATAGATTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAGACTCCTTCTCTACTAAAAATGCAAAAAATTAGCTGGGCGTGGTGGTCACAGTTACTTGGGAGGCCAAAGTGGGAGGATTGCTTGAGCCTGGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGTGAAACCCTGTCTCAAAACAAAACAAAACAAAAAAAAAGGTTGAATAGTCTTTTCAAGTGTCATTTGCCATCCTAAATACTTGGTTTTTCTTATTTCTCTCCCTGGTGACCAGGAGTGTGAGGAAGAGGCTGTCTGTGTCATTATGTGTGCGTCGGTCAAGTATAATATCCGGGGTCCTGCCCTCATCCCAAGAATGAAGACCAAGCACCGAATCTACTATATCACCCTCTTCTCCATTGTCCTCCTGGGCCTCATTGCCACTGGCATGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAATGACTGGAATGTAGAGAAGCGCAGCATCCGTGATGTGCCGGATGCACACGTGTTTTGATGTCTATCGCTGTGGCTTCAACCCAAAGAACAAAATCAAGGTGTATATCTATGCTCTGAAAAAGTACGTGGATGACTTTGGCGTCTCTGTCAGCAACACCATCTCCCGGGAGTATAATGAACTGCTCATGGCCATCTCAGACAGTGACTACTACACTGATGACATCAACCGGGCCTGTCTGTTTGTTCCCTCCATCGATGTGCTTAACCAGAACACACTGCGCATCAAGGAGACAGCACAAGCGATGGCCCAGCTCTCTAGGTATCTCACACTCATACAGCCCAGCCCCCAGGAGATACTTGAGTGGCCCTCAGGGAACTAAAGGGAAGGGAAGGATGGGAATGCTTCTGCTCTTGAGTTGGTTTCCCGATGCTGTCTTCTTGCAGGACGGGGTGTGTTGGAGGGACTGACTTGCAGCATGAGGCCTGTGTGGCAGCATCTGCCTGTGTGCCCGTGAAGAGTAGTCTGCCATCTCCGGCACTACTGCTGTGGGTTCCCAGCCTCTTAGAGTTTCCAAACTAAGCGTGGCTCTTCTTCATTTATTCTTCCTTTTAAATCTAAATATGCTACCACCTCCTCGTAGCACTTACATAATACACATTCACTGTAAGAAATCTGAAAATACAGGTAAGCAAAAAGAAGAATCTAAGATTCATTCTGAAATCCTTCCTCTAAGAGATAAACATTATTAATATTTTGATGTTACTAAAAATACACATACACATCTGTATATAAATGTTTTGTTCCAAATGGGATCACACAGTACATACTCTTTTGCTTTTTCCCTTAATATATCATGAATATATTTCCAAATTATGACATAATTTTATGTTCTTTTACTATATAACTTTAAGGGTTGCATAGTATTCCATTTTGCAGATGTTCTACCATATATTTAACCAGGCTTCTCTAATGTATTTTGTGTTTCTTTAACCAAATGGTGAACATTTGGGTAGTTTTCAACTTTTCATTATTAGAAGCAGGTCTGTATGGGACAAGCTTGAAGTACACGTGCGTTCATTTTTCCCTGTCATGGAGCCAGACTTGTGTCTGATGTGCTGTTGGGATTTCCAGGAGTTTGCTTTGCATACCTGAGAAGCGGCCCTATTTGGGCTTGGGGATCCTTGATAGTTGTTGTCTAGTAACTGACTCTTGTCTTTTCATAGTTGACACATTAATTCTCCTACATTTTAAATTTCTTGACAGGTGGGATCGAGGTACGAATCACCTGTTGTTCAACATGTTGCCTGGAGGTCCCCCAGATTATAACACAGCCCTGGATGTCCCCAGAGACAGGTAGGAGGCATATTTGGGGCTGTCCTTATGATGGGTTCAAGATCATTTTGTTCATGTGAAATTATATTCCTAAATCTACCACATACTTTGTAATCAGAATTGTTTATTAAACTAGAAAATTGTCATAAGTATTTTCCTCCTGAAGATTTAGAAGTGCTTAAATCTTTTATGGAAAACCAGTTAGGGCTTATGTCCTGGCATAGCCTCTAAAACTGTTTTCCCACTCTGGATTGTGCACTTCTGAGTGTAACACATCCAGCCCCCAAAAGTGTGACAGGCTTGTGCTAGCTCTCTCTGAATTCGGGAGCATTTGCCACAAGTAGATGCACAGCTTACTGAGAGAAGGTAGCGTGGATATGTAAAAGCGATACCCAAAGCCTATAATGTAGAGGGTAATGGGGGCACGCTGATTCTCATTTACTTTCTGTTGTTTCAATCAGTAGGGTTCTTTCTGTCCGTTCCTCCCTCCCTCCCTGCCTGCCTGCCTTCATTATTCGCCCCTCTTGCCTTTCGTTCCTTCCAGAAAAACCTTCCAAATAGGCAGATGTGGTATGGGGTGGCCATGACTGCCTGAGAGTGACTTTGAGTTCACTCACTGTATTTATCTGCCCTTTCATCACTGACTGAAAGATTTTGGTATGAGCTTTCTTGGAAAGCTCTGGTATGAGGTGCTACTTANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
pathogenic
174,694
Is chromosome 11, position 44107950, gene EXT2 (exostosin glycosyltransferase 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Exostoses,_multiple,_type_2']
GTCATTTATTTGCTGATGATTGTGGAATCTATGCAGAGCTTGGTGGGGATGGCTCATCTCTTCCCTAATGGTTTTGACTGAGATCTCCGTGTCCACTGGGGCAGGTTGCCTTCCACTGGGAGCTCAGCTTCCTTAGAGCATGGCGGCTGGATTCGAAGAGTGCAAAGGCAGACTCTATAGGGCCTCTCAAGTCTTGTGCTCAAAAATCCCAAAACATCACTTCAGCCACATTTTCTTGGTCAAAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACATGGATTCTACATTTTGTTTGGAGAAGTACCATGCAAATTCAGGGATGGAAAGAACTGTTGGTGTTCGTCTTTGTAAATGAATCTACCACATTGGCCCTTTTCCTCCCTTTCTCCCTTCTCTCTCTTTCTCTTCCTTTTCCTCCCTCCCTTTGTCTCTCCTACCCCATTCCTTTCTTCATTTCTTCCATTTATCTAAATGCAACTATCACCTTCATTATAAATCATCACTATATGTTTTATTTGAAGATGAAAGATTAATTTTTTTTCTTATTGATATCCTTTTGTACTTAATCGATACTTTCCTAGTGGTGTTTTTACATTCTGCCTTTTGTTATAGCTTTGTTTTCTCTCCCTCATTAGAGTAGGGTCTTTGCTTTCATCTTTGTTTTCTTCACAGTACATGATGGGTGCTCAATAATGGTTTGAATGAATAAGTGAACGAAAACAGATTTTTTTTTTTATGACACAGAGTCTTGCTCTGTCACTTGGGCTGGAGTGCAGTGGCACGATCTCGGCTCACCGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAATTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAGGTGCTGGGATTATAGACGTGAGCCACCGCACATGGCTGAAAACAGATTTTGGAATGATGAAGCTTCAGTTTGTCCAGTTAAATCATTATTTTATGTTAAGCAAGTGTTTTGAAATAAAATAACTGTCTTTTGCTATTCCACTTTTGATTTTTCTGCCTTGGTCAGAGCCCTCCTTCCCAGAGTCCCACATTTGCCAGCTTCTGCTTTAAGTAAATGTATATTGATAGGGTATAGTAATATTTTATATTATGAATTAATATTTATGTTAAATATATGCAGTATTAAATATTAAATACATTATATACTATTTATTCATATATCTAGATATATATTTCTAAATGTTTATAAGAAGTGTCCAAAGTCCCTTTTTGTTATTTCACCACACCACTTAAGGGAAAGAAATAGGTACATTAAAAGTAGAGGCTGGGCGCGGTGGCTTATGCCTATGATCCTAGCATTTTGGGAGGCCGAGGCAGGCTGATAGATTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAGACTCCTTCTCTACTAAAAATGCAAAAAATTAGCTGGGCGTGGTGGTCACAGTTACTTGGGAGGCCAAAGTGGGAGGATTGCTTGAGCCTGGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGTGAAACCCTGTCTCAAAACAAAACAAAACAAAAAAAAAGGTTGAATAGTCTTTTCAAGTGTCATTTGCCATCCTAAATACTTGGTTTTTCTTATTTCTCTCCCTGGTGACCAGGAGTGTGAGGAAGAGGCTGTCTGTGTCATTATGTGTGCGTCGGTCAAGTATAATATCCGGGGTCCTGCCCTCATCCCAAGAATGAAGACCAAGCACCGAATCTACTATATCACCCTCTTCTCCATTGTCCTCCTGGGCCTCATTGCCACTGGCATGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAATGACTGGAATGTAGAGAAGCGCAGCATCCGTGATGTGCCGGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGAATGCACACGTGTTTTGATGTCTATCGCTGTGGCTTCAACCCAAAGAACAAAATCAAGGTGTATATCTATGCTCTGAAAAAGTACGTGGATGACTTTGGCGTCTCTGTCAGCAACACCATCTCCCGGGAGTATAATGAACTGCTCATGGCCATCTCAGACAGTGACTACTACACTGATGACATCAACCGGGCCTGTCTGTTTGTTCCCTCCATCGATGTGCTTAACCAGAACACACTGCGCATCAAGGAGACAGCACAAGCGATGGCCCAGCTCTCTAGGTATCTCACACTCATACAGCCCAGCCCCCAGGAGATACTTGAGTGGCCCTCAGGGAACTAAAGGGAAGGGAAGGATGGGAATGCTTCTGCTCTTGAGTTGGTTTCCCGATGCTGTCTTCTTGCAGGACGGGGTGTGTTGGAGGGACTGACTTGCAGCATGAGGCCTGTGTGGCAGCATCTGCCTGTGTGCCCGTGAAGAGTAGTCTGCCATCTCCGGCACTACTGCTGTGGGTTCCCAGCCTCTTAGAGTTTCCAAACTAAGCGTGGCTCTTCTTCATTTATTCTTCCTTTTAAATCTAAATATGCTACCACCTCCTCGTAGCACTTACATAATACACATTCACTGTAAGAAATCTGAAAATACAGGTAAGCAAAAAGAAGAATCTAAGATTCATTCTGAAATCCTTCCTCTAAGAGATAAACATTATTAATATTTTGATGTTACTAAAAATACACATACACATCTGTATATAAATGTTTTGTTCCAAATGGGATCACACAGTACATACTCTTTTGCTTTTTCCCTTAATATATCATGAATATATTTCCAAATTATGACATAATTTTATGTTCTTTTACTATATAACTTTAAGGGTTGCATAGTATTCCATTTTGCAGATGTTCTACCATATATTTAACCAGGCTTCTCTAATGTATTTTGTGTTTCTTTAACCAAATGGTGAACATTTGGGTAGTTTTCAACTTTTCATTATTAGAAGCAGGTCTGTATGGGACAAGCTTGAAGTACACGTGCGTTCATTTTTCCCTGTCATGGAGCCAGACTTGTGTCTGATGTGCTGTTGGGATTTCCAGGAGTTTGCTTTGCATACCTGAGAAGCGGCCCTATTTGGGCTTGGGGATCCTTGATAGTTGTTGTCTAGTAACTGACTCTTGTCTTTTCATAGTTGACACATTAATTCTCCTACATTTTAAATTTCTTGACAGGTGGGATCGAGGTACGAATCACCTGTTGTTCAACATGTTGCCTGGAGGTCCCCCAGATTATAACACAGCCCTGGATGTCCCCAGAGACAGGTAGGAGGCATATTTGGGGCTGTCCTTATGATGGGTTCAAGATCATTTTGTTCATGTGAAATTATATTCCTAAATCTACCACATACTTTGTAATCAGAATTGTTTATTAAACTAGAAAATTGTCATAAGTATTTTCCTCCTGAAGATTTAGAAGTGCTTAAATCTTTTATGGAAAACCAGTTAGGGCTTATGTCCTGGCATAGCCTCTAAAACTGTTTTCCCACTCTGGATTGTGCACTTCTGAGTGTAACACATCCAGCCCCCAAAAGTGTGACAGGCTTGTGCTAGCTCTCTCTGAATTCGGGAGCATTTGCCACAAGTAGATGCACAGCTTACTGAGAGAAGGTAGCGTGGATATGTAAAAGCGATACCCAAAGCCTATAATGTAGAGGGTAATGGGGGCACGCTGATTCTCATTTACTTTCTGTTGTTTCAATCAGTAGGGTTCTTTCTGTCCGTTCCTCCCTCCCTCCCTGCCTGCCTGCCTTCATTATTCGCCCCTCTTGCCTTTCGTTCCTTCCAGAAAAACCTTCCAAATAGGCAGATGTGGTATGGGGTGGCCATGACTGCCTGAGAGTGACTTTGAGTTCACTCACTGTATTTATCTGCCCTTTCATCACTGACTGAAAGATTTTGGTATGAGCTTTCTTGGAAAGCTCTGGTATGAGGTGCTACTTAAGGGACCTCTCTTAGTGCTGGGTTCAAGGCTTTGAG
GTCATTTATTTGCTGATGATTGTGGAATCTATGCAGAGCTTGGTGGGGATGGCTCATCTCTTCCCTAATGGTTTTGACTGAGATCTCCGTGTCCACTGGGGCAGGTTGCCTTCCACTGGGAGCTCAGCTTCCTTAGAGCATGGCGGCTGGATTCGAAGAGTGCAAAGGCAGACTCTATAGGGCCTCTCAAGTCTTGTGCTCAAAAATCCCAAAACATCACTTCAGCCACATTTTCTTGGTCAAAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACATGGATTCTACATTTTGTTTGGAGAAGTACCATGCAAATTCAGGGATGGAAAGAACTGTTGGTGTTCGTCTTTGTAAATGAATCTACCACATTGGCCCTTTTCCTCCCTTTCTCCCTTCTCTCTCTTTCTCTTCCTTTTCCTCCCTCCCTTTGTCTCTCCTACCCCATTCCTTTCTTCATTTCTTCCATTTATCTAAATGCAACTATCACCTTCATTATAAATCATCACTATATGTTTTATTTGAAGATGAAAGATTAATTTTTTTTCTTATTGATATCCTTTTGTACTTAATCGATACTTTCCTAGTGGTGTTTTTACATTCTGCCTTTTGTTATAGCTTTGTTTTCTCTCCCTCATTAGAGTAGGGTCTTTGCTTTCATCTTTGTTTTCTTCACAGTACATGATGGGTGCTCAATAATGGTTTGAATGAATAAGTGAACGAAAACAGATTTTTTTTTTTATGACACAGAGTCTTGCTCTGTCACTTGGGCTGGAGTGCAGTGGCACGATCTCGGCTCACCGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAATTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAGGTGCTGGGATTATAGACGTGAGCCACCGCACATGGCTGAAAACAGATTTTGGAATGATGAAGCTTCAGTTTGTCCAGTTAAATCATTATTTTATGTTAAGCAAGTGTTTTGAAATAAAATAACTGTCTTTTGCTATTCCACTTTTGATTTTTCTGCCTTGGTCAGAGCCCTCCTTCCCAGAGTCCCACATTTGCCAGCTTCTGCTTTAAGTAAATGTATATTGATAGGGTATAGTAATATTTTATATTATGAATTAATATTTATGTTAAATATATGCAGTATTAAATATTAAATACATTATATACTATTTATTCATATATCTAGATATATATTTCTAAATGTTTATAAGAAGTGTCCAAAGTCCCTTTTTGTTATTTCACCACACCACTTAAGGGAAAGAAATAGGTACATTAAAAGTAGAGGCTGGGCGCGGTGGCTTATGCCTATGATCCTAGCATTTTGGGAGGCCGAGGCAGGCTGATAGATTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAGACTCCTTCTCTACTAAAAATGCAAAAAATTAGCTGGGCGTGGTGGTCACAGTTACTTGGGAGGCCAAAGTGGGAGGATTGCTTGAGCCTGGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGTGAAACCCTGTCTCAAAACAAAACAAAACAAAAAAAAAGGTTGAATAGTCTTTTCAAGTGTCATTTGCCATCCTAAATACTTGGTTTTTCTTATTTCTCTCCCTGGTGACCAGGAGTGTGAGGAAGAGGCTGTCTGTGTCATTATGTGTGCGTCGGTCAAGTATAATATCCGGGGTCCTGCCCTCATCCCAAGAATGAAGACCAAGCACCGAATCTACTATATCACCCTCTTCTCCATTGTCCTCCTGGGCCTCATTGCCACTGGCATGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAATGACTGGAATGTAGAGAAGCGCAGCATCCGTGATGTGCCGGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGGATCTCAGTTGCAGAATGCACACGTGTTTTGATGTCTATCGCTGTGGCTTCAACCCAAAGAACAAAATCAAGGTGTATATCTATGCTCTGAAAAAGTACGTGGATGACTTTGGCGTCTCTGTCAGCAACACCATCTCCCGGGAGTATAATGAACTGCTCATGGCCATCTCAGACAGTGACTACTACACTGATGACATCAACCGGGCCTGTCTGTTTGTTCCCTCCATCGATGTGCTTAACCAGAACACACTGCGCATCAAGGAGACAGCACAAGCGATGGCCCAGCTCTCTAGGTATCTCACACTCATACAGCCCAGCCCCCAGGAGATACTTGAGTGGCCCTCAGGGAACTAAAGGGAAGGGAAGGATGGGAATGCTTCTGCTCTTGAGTTGGTTTCCCGATGCTGTCTTCTTGCAGGACGGGGTGTGTTGGAGGGACTGACTTGCAGCATGAGGCCTGTGTGGCAGCATCTGCCTGTGTGCCCGTGAAGAGTAGTCTGCCATCTCCGGCACTACTGCTGTGGGTTCCCAGCCTCTTAGAGTTTCCAAACTAAGCGTGGCTCTTCTTCATTTATTCTTCCTTTTAAATCTAAATATGCTACCACCTCCTCGTAGCACTTACATAATACACATTCACTGTAAGAAATCTGAAAATACAGGTAAGCAAAAAGAAGAATCTAAGATTCATTCTGAAATCCTTCCTCTAAGAGATAAACATTATTAATATTTTGATGTTACTAAAAATACACATACACATCTGTATATAAATGTTTTGTTCCAAATGGGATCACACAGTACATACTCTTTTGCTTTTTCCCTTAATATATCATGAATATATTTCCAAATTATGACATAATTTTATGTTCTTTTACTATATAACTTTAAGGGTTGCATAGTATTCCATTTTGCAGATGTTCTACCATATATTTAACCAGGCTTCTCTAATGTATTTTGTGTTTCTTTAACCAAATGGTGAACATTTGGGTAGTTTTCAACTTTTCATTATTAGAAGCAGGTCTGTATGGGACAAGCTTGAAGTACACGTGCGTTCATTTTTCCCTGTCATGGAGCCAGACTTGTGTCTGATGTGCTGTTGGGATTTCCAGGAGTTTGCTTTGCATACCTGAGAAGCGGCCCTATTTGGGCTTGGGGATCCTTGATAGTTGTTGTCTAGTAACTGACTCTTGTCTTTTCATAGTTGACACATTAATTCTCCTACATTTTAAATTTCTTGACAGGTGGGATCGAGGTACGAATCACCTGTTGTTCAACATGTTGCCTGGAGGTCCCCCAGATTATAACACAGCCCTGGATGTCCCCAGAGACAGGTAGGAGGCATATTTGGGGCTGTCCTTATGATGGGTTCAAGATCATTTTGTTCATGTGAAATTATATTCCTAAATCTACCACATACTTTGTAATCAGAATTGTTTATTAAACTAGAAAATTGTCATAAGTATTTTCCTCCTGAAGATTTAGAAGTGCTTAAATCTTTTATGGAAAACCAGTTAGGGCTTATGTCCTGGCATAGCCTCTAAAACTGTTTTCCCACTCTGGATTGTGCACTTCTGAGTGTAACACATCCAGCCCCCAAAAGTGTGACAGGCTTGTGCTAGCTCTCTCTGAATTCGGGAGCATTTGCCACAAGTAGATGCACAGCTTACTGAGAGAAGGTAGCGTGGATATGTAAAAGCGATACCCAAAGCCTATAATGTAGAGGGTAATGGGGGCACGCTGATTCTCATTTACTTTCTGTTGTTTCAATCAGTAGGGTTCTTTCTGTCCGTTCCTCCCTCCCTCCCTGCCTGCCTGCCTTCATTATTCGCCCCTCTTGCCTTTCGTTCCTTCCAGAAAAACCTTCCAAATAGGCAGATGTGGTATGGGGTGGCCATGACTGCCTGAGAGTGACTTTGAGTTCACTCACTGTATTTATCTGCCCTTTCATCACTGACTGAAAGATTTTGGTATGAGCTTTCTTGGAAAGCTCTGGTATGAGGTGCTACTTAAGGGACCTCTCTTAGTGCTGGGTTCAAGGCTTTGA
pathogenic
174,695
Located at chromosome 11 position 44107956, the variant affecting gene EXT2 (exostosin glycosyltransferase 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['Exostoses,_multiple,_type_2']
TATTTGCTGATGATTGTGGAATCTATGCAGAGCTTGGTGGGGATGGCTCATCTCTTCCCTAATGGTTTTGACTGAGATCTCCGTGTCCACTGGGGCAGGTTGCCTTCCACTGGGAGCTCAGCTTCCTTAGAGCATGGCGGCTGGATTCGAAGAGTGCAAAGGCAGACTCTATAGGGCCTCTCAAGTCTTGTGCTCAAAAATCCCAAAACATCACTTCAGCCACATTTTCTTGGTCAAAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACATGGATTCTACATTTTGTTTGGAGAAGTACCATGCAAATTCAGGGATGGAAAGAACTGTTGGTGTTCGTCTTTGTAAATGAATCTACCACATTGGCCCTTTTCCTCCCTTTCTCCCTTCTCTCTCTTTCTCTTCCTTTTCCTCCCTCCCTTTGTCTCTCCTACCCCATTCCTTTCTTCATTTCTTCCATTTATCTAAATGCAACTATCACCTTCATTATAAATCATCACTATATGTTTTATTTGAAGATGAAAGATTAATTTTTTTTCTTATTGATATCCTTTTGTACTTAATCGATACTTTCCTAGTGGTGTTTTTACATTCTGCCTTTTGTTATAGCTTTGTTTTCTCTCCCTCATTAGAGTAGGGTCTTTGCTTTCATCTTTGTTTTCTTCACAGTACATGATGGGTGCTCAATAATGGTTTGAATGAATAAGTGAACGAAAACAGATTTTTTTTTTTATGACACAGAGTCTTGCTCTGTCACTTGGGCTGGAGTGCAGTGGCACGATCTCGGCTCACCGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAATTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAGGTGCTGGGATTATAGACGTGAGCCACCGCACATGGCTGAAAACAGATTTTGGAATGATGAAGCTTCAGTTTGTCCAGTTAAATCATTATTTTATGTTAAGCAAGTGTTTTGAAATAAAATAACTGTCTTTTGCTATTCCACTTTTGATTTTTCTGCCTTGGTCAGAGCCCTCCTTCCCAGAGTCCCACATTTGCCAGCTTCTGCTTTAAGTAAATGTATATTGATAGGGTATAGTAATATTTTATATTATGAATTAATATTTATGTTAAATATATGCAGTATTAAATATTAAATACATTATATACTATTTATTCATATATCTAGATATATATTTCTAAATGTTTATAAGAAGTGTCCAAAGTCCCTTTTTGTTATTTCACCACACCACTTAAGGGAAAGAAATAGGTACATTAAAAGTAGAGGCTGGGCGCGGTGGCTTATGCCTATGATCCTAGCATTTTGGGAGGCCGAGGCAGGCTGATAGATTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAGACTCCTTCTCTACTAAAAATGCAAAAAATTAGCTGGGCGTGGTGGTCACAGTTACTTGGGAGGCCAAAGTGGGAGGATTGCTTGAGCCTGGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGTGAAACCCTGTCTCAAAACAAAACAAAACAAAAAAAAAGGTTGAATAGTCTTTTCAAGTGTCATTTGCCATCCTAAATACTTGGTTTTTCTTATTTCTCTCCCTGGTGACCAGGAGTGTGAGGAAGAGGCTGTCTGTGTCATTATGTGTGCGTCGGTCAAGTATAATATCCGGGGTCCTGCCCTCATCCCAAGAATGAAGACCAAGCACCGAATCTACTATATCACCCTCTTCTCCATTGTCCTCCTGGGCCTCATTGCCACTGGCATGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAATGACTGGAATGTAGAGAAGCGCAGCATCCGTGATGTGCCGGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGAATGCACACGTGTTTTGATGTCTATCGCTGTGGCTTCAACCCAAAGAACAAAATCAAGGTGTATATCTATGCTCTGAAAAAGTACGTGGATGACTTTGGCGTCTCTGTCAGCAACACCATCTCCCGGGAGTATAATGAACTGCTCATGGCCATCTCAGACAGTGACTACTACACTGATGACATCAACCGGGCCTGTCTGTTTGTTCCCTCCATCGATGTGCTTAACCAGAACACACTGCGCATCAAGGAGACAGCACAAGCGATGGCCCAGCTCTCTAGGTATCTCACACTCATACAGCCCAGCCCCCAGGAGATACTTGAGTGGCCCTCAGGGAACTAAAGGGAAGGGAAGGATGGGAATGCTTCTGCTCTTGAGTTGGTTTCCCGATGCTGTCTTCTTGCAGGACGGGGTGTGTTGGAGGGACTGACTTGCAGCATGAGGCCTGTGTGGCAGCATCTGCCTGTGTGCCCGTGAAGAGTAGTCTGCCATCTCCGGCACTACTGCTGTGGGTTCCCAGCCTCTTAGAGTTTCCAAACTAAGCGTGGCTCTTCTTCATTTATTCTTCCTTTTAAATCTAAATATGCTACCACCTCCTCGTAGCACTTACATAATACACATTCACTGTAAGAAATCTGAAAATACAGGTAAGCAAAAAGAAGAATCTAAGATTCATTCTGAAATCCTTCCTCTAAGAGATAAACATTATTAATATTTTGATGTTACTAAAAATACACATACACATCTGTATATAAATGTTTTGTTCCAAATGGGATCACACAGTACATACTCTTTTGCTTTTTCCCTTAATATATCATGAATATATTTCCAAATTATGACATAATTTTATGTTCTTTTACTATATAACTTTAAGGGTTGCATAGTATTCCATTTTGCAGATGTTCTACCATATATTTAACCAGGCTTCTCTAATGTATTTTGTGTTTCTTTAACCAAATGGTGAACATTTGGGTAGTTTTCAACTTTTCATTATTAGAAGCAGGTCTGTATGGGACAAGCTTGAAGTACACGTGCGTTCATTTTTCCCTGTCATGGAGCCAGACTTGTGTCTGATGTGCTGTTGGGATTTCCAGGAGTTTGCTTTGCATACCTGAGAAGCGGCCCTATTTGGGCTTGGGGATCCTTGATAGTTGTTGTCTAGTAACTGACTCTTGTCTTTTCATAGTTGACACATTAATTCTCCTACATTTTAAATTTCTTGACAGGTGGGATCGAGGTACGAATCACCTGTTGTTCAACATGTTGCCTGGAGGTCCCCCAGATTATAACACAGCCCTGGATGTCCCCAGAGACAGGTAGGAGGCATATTTGGGGCTGTCCTTATGATGGGTTCAAGATCATTTTGTTCATGTGAAATTATATTCCTAAATCTACCACATACTTTGTAATCAGAATTGTTTATTAAACTAGAAAATTGTCATAAGTATTTTCCTCCTGAAGATTTAGAAGTGCTTAAATCTTTTATGGAAAACCAGTTAGGGCTTATGTCCTGGCATAGCCTCTAAAACTGTTTTCCCACTCTGGATTGTGCACTTCTGAGTGTAACACATCCAGCCCCCAAAAGTGTGACAGGCTTGTGCTAGCTCTCTCTGAATTCGGGAGCATTTGCCACAAGTAGATGCACAGCTTACTGAGAGAAGGTAGCGTGGATATGTAAAAGCGATACCCAAAGCCTATAATGTAGAGGGTAATGGGGGCACGCTGATTCTCATTTACTTTCTGTTGTTTCAATCAGTAGGGTTCTTTCTGTCCGTTCCTCCCTCCCTCCCTGCCTGCCTGCCTTCATTATTCGCCCCTCTTGCCTTTCGTTCCTTCCAGAAAAACCTTCCAAATAGGCAGATGTGGTATGGGGTGGCCATGACTGCCTGAGAGTGACTTTGAGTTCACTCACTGTATTTATCTGCCCTTTCATCACTGACTGAAAGATTTTGGTATGAGCTTTCTTGGAAAGCTCTGGTATGAGGTGCTACTTAAGGGACCTCTCTTAGTGCTGGGTTCAAGGCTTTGAGGAAAGT
TATTTGCTGATGATTGTGGAATCTATGCAGAGCTTGGTGGGGATGGCTCATCTCTTCCCTAATGGTTTTGACTGAGATCTCCGTGTCCACTGGGGCAGGTTGCCTTCCACTGGGAGCTCAGCTTCCTTAGAGCATGGCGGCTGGATTCGAAGAGTGCAAAGGCAGACTCTATAGGGCCTCTCAAGTCTTGTGCTCAAAAATCCCAAAACATCACTTCAGCCACATTTTCTTGGTCAAAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACATGGATTCTACATTTTGTTTGGAGAAGTACCATGCAAATTCAGGGATGGAAAGAACTGTTGGTGTTCGTCTTTGTAAATGAATCTACCACATTGGCCCTTTTCCTCCCTTTCTCCCTTCTCTCTCTTTCTCTTCCTTTTCCTCCCTCCCTTTGTCTCTCCTACCCCATTCCTTTCTTCATTTCTTCCATTTATCTAAATGCAACTATCACCTTCATTATAAATCATCACTATATGTTTTATTTGAAGATGAAAGATTAATTTTTTTTCTTATTGATATCCTTTTGTACTTAATCGATACTTTCCTAGTGGTGTTTTTACATTCTGCCTTTTGTTATAGCTTTGTTTTCTCTCCCTCATTAGAGTAGGGTCTTTGCTTTCATCTTTGTTTTCTTCACAGTACATGATGGGTGCTCAATAATGGTTTGAATGAATAAGTGAACGAAAACAGATTTTTTTTTTTATGACACAGAGTCTTGCTCTGTCACTTGGGCTGGAGTGCAGTGGCACGATCTCGGCTCACCGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAATTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAGGTGCTGGGATTATAGACGTGAGCCACCGCACATGGCTGAAAACAGATTTTGGAATGATGAAGCTTCAGTTTGTCCAGTTAAATCATTATTTTATGTTAAGCAAGTGTTTTGAAATAAAATAACTGTCTTTTGCTATTCCACTTTTGATTTTTCTGCCTTGGTCAGAGCCCTCCTTCCCAGAGTCCCACATTTGCCAGCTTCTGCTTTAAGTAAATGTATATTGATAGGGTATAGTAATATTTTATATTATGAATTAATATTTATGTTAAATATATGCAGTATTAAATATTAAATACATTATATACTATTTATTCATATATCTAGATATATATTTCTAAATGTTTATAAGAAGTGTCCAAAGTCCCTTTTTGTTATTTCACCACACCACTTAAGGGAAAGAAATAGGTACATTAAAAGTAGAGGCTGGGCGCGGTGGCTTATGCCTATGATCCTAGCATTTTGGGAGGCCGAGGCAGGCTGATAGATTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAGACTCCTTCTCTACTAAAAATGCAAAAAATTAGCTGGGCGTGGTGGTCACAGTTACTTGGGAGGCCAAAGTGGGAGGATTGCTTGAGCCTGGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGTGAAACCCTGTCTCAAAACAAAACAAAACAAAAAAAAAGGTTGAATAGTCTTTTCAAGTGTCATTTGCCATCCTAAATACTTGGTTTTTCTTATTTCTCTCCCTGGTGACCAGGAGTGTGAGGAAGAGGCTGTCTGTGTCATTATGTGTGCGTCGGTCAAGTATAATATCCGGGGTCCTGCCCTCATCCCAAGAATGAAGACCAAGCACCGAATCTACTATATCACCCTCTTCTCCATTGTCCTCCTGGGCCTCATTGCCACTGGCATGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAATGACTGGAATGTAGAGAAGCGCAGCATCCGTGATGTGCCGGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGAATCTCAGTTGCAGAATGCACACGTGTTTTGATGTCTATCGCTGTGGCTTCAACCCAAAGAACAAAATCAAGGTGTATATCTATGCTCTGAAAAAGTACGTGGATGACTTTGGCGTCTCTGTCAGCAACACCATCTCCCGGGAGTATAATGAACTGCTCATGGCCATCTCAGACAGTGACTACTACACTGATGACATCAACCGGGCCTGTCTGTTTGTTCCCTCCATCGATGTGCTTAACCAGAACACACTGCGCATCAAGGAGACAGCACAAGCGATGGCCCAGCTCTCTAGGTATCTCACACTCATACAGCCCAGCCCCCAGGAGATACTTGAGTGGCCCTCAGGGAACTAAAGGGAAGGGAAGGATGGGAATGCTTCTGCTCTTGAGTTGGTTTCCCGATGCTGTCTTCTTGCAGGACGGGGTGTGTTGGAGGGACTGACTTGCAGCATGAGGCCTGTGTGGCAGCATCTGCCTGTGTGCCCGTGAAGAGTAGTCTGCCATCTCCGGCACTACTGCTGTGGGTTCCCAGCCTCTTAGAGTTTCCAAACTAAGCGTGGCTCTTCTTCATTTATTCTTCCTTTTAAATCTAAATATGCTACCACCTCCTCGTAGCACTTACATAATACACATTCACTGTAAGAAATCTGAAAATACAGGTAAGCAAAAAGAAGAATCTAAGATTCATTCTGAAATCCTTCCTCTAAGAGATAAACATTATTAATATTTTGATGTTACTAAAAATACACATACACATCTGTATATAAATGTTTTGTTCCAAATGGGATCACACAGTACATACTCTTTTGCTTTTTCCCTTAATATATCATGAATATATTTCCAAATTATGACATAATTTTATGTTCTTTTACTATATAACTTTAAGGGTTGCATAGTATTCCATTTTGCAGATGTTCTACCATATATTTAACCAGGCTTCTCTAATGTATTTTGTGTTTCTTTAACCAAATGGTGAACATTTGGGTAGTTTTCAACTTTTCATTATTAGAAGCAGGTCTGTATGGGACAAGCTTGAAGTACACGTGCGTTCATTTTTCCCTGTCATGGAGCCAGACTTGTGTCTGATGTGCTGTTGGGATTTCCAGGAGTTTGCTTTGCATACCTGAGAAGCGGCCCTATTTGGGCTTGGGGATCCTTGATAGTTGTTGTCTAGTAACTGACTCTTGTCTTTTCATAGTTGACACATTAATTCTCCTACATTTTAAATTTCTTGACAGGTGGGATCGAGGTACGAATCACCTGTTGTTCAACATGTTGCCTGGAGGTCCCCCAGATTATAACACAGCCCTGGATGTCCCCAGAGACAGGTAGGAGGCATATTTGGGGCTGTCCTTATGATGGGTTCAAGATCATTTTGTTCATGTGAAATTATATTCCTAAATCTACCACATACTTTGTAATCAGAATTGTTTATTAAACTAGAAAATTGTCATAAGTATTTTCCTCCTGAAGATTTAGAAGTGCTTAAATCTTTTATGGAAAACCAGTTAGGGCTTATGTCCTGGCATAGCCTCTAAAACTGTTTTCCCACTCTGGATTGTGCACTTCTGAGTGTAACACATCCAGCCCCCAAAAGTGTGACAGGCTTGTGCTAGCTCTCTCTGAATTCGGGAGCATTTGCCACAAGTAGATGCACAGCTTACTGAGAGAAGGTAGCGTGGATATGTAAAAGCGATACCCAAAGCCTATAATGTAGAGGGTAATGGGGGCACGCTGATTCTCATTTACTTTCTGTTGTTTCAATCAGTAGGGTTCTTTCTGTCCGTTCCTCCCTCCCTCCCTGCCTGCCTGCCTTCATTATTCGCCCCTCTTGCCTTTCGTTCCTTCCAGAAAAACCTTCCAAATAGGCAGATGTGGTATGGGGTGGCCATGACTGCCTGAGAGTGACTTTGAGTTCACTCACTGTATTTATCTGCCCTTTCATCACTGACTGAAAGATTTTGGTATGAGCTTTCTTGGAAAGCTCTGGTATGAGGTGCTACTTAAGGGACCTCTCTTAGTGCTGGGTTCAAGGCTTTGAGGAAAG
pathogenic
174,696
A genetic variant on chromosome 11, position 44108109, affects the gene EXT2 (exostosin glycosyltransferase 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
pathogenic; ['Exostoses,_multiple,_type_2']
GTGCAAAGGCAGACTCTATAGGGCCTCTCAAGTCTTGTGCTCAAAAATCCCAAAACATCACTTCAGCCACATTTTCTTGGTCAAAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACATGGATTCTACATTTTGTTTGGAGAAGTACCATGCAAATTCAGGGATGGAAAGAACTGTTGGTGTTCGTCTTTGTAAATGAATCTACCACATTGGCCCTTTTCCTCCCTTTCTCCCTTCTCTCTCTTTCTCTTCCTTTTCCTCCCTCCCTTTGTCTCTCCTACCCCATTCCTTTCTTCATTTCTTCCATTTATCTAAATGCAACTATCACCTTCATTATAAATCATCACTATATGTTTTATTTGAAGATGAAAGATTAATTTTTTTTCTTATTGATATCCTTTTGTACTTAATCGATACTTTCCTAGTGGTGTTTTTACATTCTGCCTTTTGTTATAGCTTTGTTTTCTCTCCCTCATTAGAGTAGGGTCTTTGCTTTCATCTTTGTTTTCTTCACAGTACATGATGGGTGCTCAATAATGGTTTGAATGAATAAGTGAACGAAAACAGATTTTTTTTTTTATGACACAGAGTCTTGCTCTGTCACTTGGGCTGGAGTGCAGTGGCACGATCTCGGCTCACCGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAATTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAGGTGCTGGGATTATAGACGTGAGCCACCGCACATGGCTGAAAACAGATTTTGGAATGATGAAGCTTCAGTTTGTCCAGTTAAATCATTATTTTATGTTAAGCAAGTGTTTTGAAATAAAATAACTGTCTTTTGCTATTCCACTTTTGATTTTTCTGCCTTGGTCAGAGCCCTCCTTCCCAGAGTCCCACATTTGCCAGCTTCTGCTTTAAGTAAATGTATATTGATAGGGTATAGTAATATTTTATATTATGAATTAATATTTATGTTAAATATATGCAGTATTAAATATTAAATACATTATATACTATTTATTCATATATCTAGATATATATTTCTAAATGTTTATAAGAAGTGTCCAAAGTCCCTTTTTGTTATTTCACCACACCACTTAAGGGAAAGAAATAGGTACATTAAAAGTAGAGGCTGGGCGCGGTGGCTTATGCCTATGATCCTAGCATTTTGGGAGGCCGAGGCAGGCTGATAGATTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAGACTCCTTCTCTACTAAAAATGCAAAAAATTAGCTGGGCGTGGTGGTCACAGTTACTTGGGAGGCCAAAGTGGGAGGATTGCTTGAGCCTGGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGTGAAACCCTGTCTCAAAACAAAACAAAACAAAAAAAAAGGTTGAATAGTCTTTTCAAGTGTCATTTGCCATCCTAAATACTTGGTTTTTCTTATTTCTCTCCCTGGTGACCAGGAGTGTGAGGAAGAGGCTGTCTGTGTCATTATGTGTGCGTCGGTCAAGTATAATATCCGGGGTCCTGCCCTCATCCCAAGAATGAAGACCAAGCACCGAATCTACTATATCACCCTCTTCTCCATTGTCCTCCTGGGCCTCATTGCCACTGGCATGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAATGACTGGAATGTAGAGAAGCGCAGCATCCGTGATGTGCCGGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGAATGCACACGTGTTTTGATGTCTATCGCTGTGGCTTCAACCCAAAGAACAAAATCAAGGTGTATATCTATGCTCTGAAAAAGTACGTGGATGACTTTGGCGTCTCTGTCAGCAACACCATCTCCCGGGAGTATAATGAACTGCTCATGGCCATCTCAGACAGTGACTACTACACTGATGACATCAACCGGGCCTGTCTGTTTGTTCCCTCCATCGATGTGCTTAACCAGAACACACTGCGCATCAAGGAGACAGCACAAGCGATGGCCCAGCTCTCTAGGTATCTCACACTCATACAGCCCAGCCCCCAGGAGATACTTGAGTGGCCCTCAGGGAACTAAAGGGAAGGGAAGGATGGGAATGCTTCTGCTCTTGAGTTGGTTTCCCGATGCTGTCTTCTTGCAGGACGGGGTGTGTTGGAGGGACTGACTTGCAGCATGAGGCCTGTGTGGCAGCATCTGCCTGTGTGCCCGTGAAGAGTAGTCTGCCATCTCCGGCACTACTGCTGTGGGTTCCCAGCCTCTTAGAGTTTCCAAACTAAGCGTGGCTCTTCTTCATTTATTCTTCCTTTTAAATCTAAATATGCTACCACCTCCTCGTAGCACTTACATAATACACATTCACTGTAAGAAATCTGAAAATACAGGTAAGCAAAAAGAAGAATCTAAGATTCATTCTGAAATCCTTCCTCTAAGAGATAAACATTATTAATATTTTGATGTTACTAAAAATACACATACACATCTGTATATAAATGTTTTGTTCCAAATGGGATCACACAGTACATACTCTTTTGCTTTTTCCCTTAATATATCATGAATATATTTCCAAATTATGACATAATTTTATGTTCTTTTACTATATAACTTTAAGGGTTGCATAGTATTCCATTTTGCAGATGTTCTACCATATATTTAACCAGGCTTCTCTAATGTATTTTGTGTTTCTTTAACCAAATGGTGAACATTTGGGTAGTTTTCAACTTTTCATTATTAGAAGCAGGTCTGTATGGGACAAGCTTGAAGTACACGTGCGTTCATTTTTCCCTGTCATGGAGCCAGACTTGTGTCTGATGTGCTGTTGGGATTTCCAGGAGTTTGCTTTGCATACCTGAGAAGCGGCCCTATTTGGGCTTGGGGATCCTTGATAGTTGTTGTCTAGTAACTGACTCTTGTCTTTTCATAGTTGACACATTAATTCTCCTACATTTTAAATTTCTTGACAGGTGGGATCGAGGTACGAATCACCTGTTGTTCAACATGTTGCCTGGAGGTCCCCCAGATTATAACACAGCCCTGGATGTCCCCAGAGACAGGTAGGAGGCATATTTGGGGCTGTCCTTATGATGGGTTCAAGATCATTTTGTTCATGTGAAATTATATTCCTAAATCTACCACATACTTTGTAATCAGAATTGTTTATTAAACTAGAAAATTGTCATAAGTATTTTCCTCCTGAAGATTTAGAAGTGCTTAAATCTTTTATGGAAAACCAGTTAGGGCTTATGTCCTGGCATAGCCTCTAAAACTGTTTTCCCACTCTGGATTGTGCACTTCTGAGTGTAACACATCCAGCCCCCAAAAGTGTGACAGGCTTGTGCTAGCTCTCTCTGAATTCGGGAGCATTTGCCACAAGTAGATGCACAGCTTACTGAGAGAAGGTAGCGTGGATATGTAAAAGCGATACCCAAAGCCTATAATGTAGAGGGTAATGGGGGCACGCTGATTCTCATTTACTTTCTGTTGTTTCAATCAGTAGGGTTCTTTCTGTCCGTTCCTCCCTCCCTCCCTGCCTGCCTGCCTTCATTATTCGCCCCTCTTGCCTTTCGTTCCTTCCAGAAAAACCTTCCAAATAGGCAGATGTGGTATGGGGTGGCCATGACTGCCTGAGAGTGACTTTGAGTTCACTCACTGTATTTATCTGCCCTTTCATCACTGACTGAAAGATTTTGGTATGAGCTTTCTTGGAAAGCTCTGGTATGAGGTGCTACTTAAGGGACCTCTCTTAGTGCTGGGTTCAAGGCTTTGAGGAAAGTAGAAAGTTGGGGCGCAATATATAAGCGTCGCGGGCAATGCTCAAGGTATAGAATTGTTAACAGTTCACCTAAACTTGTTTATCACCAGTCTTATTACAGTTGGTGTTTAACTCTTAAACTCATTGTTAACTGAAAAGGTAACAGCCTGAGGTA
GTGCAAAGGCAGACTCTATAGGGCCTCTCAAGTCTTGTGCTCAAAAATCCCAAAACATCACTTCAGCCACATTTTCTTGGTCAAAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACATGGATTCTACATTTTGTTTGGAGAAGTACCATGCAAATTCAGGGATGGAAAGAACTGTTGGTGTTCGTCTTTGTAAATGAATCTACCACATTGGCCCTTTTCCTCCCTTTCTCCCTTCTCTCTCTTTCTCTTCCTTTTCCTCCCTCCCTTTGTCTCTCCTACCCCATTCCTTTCTTCATTTCTTCCATTTATCTAAATGCAACTATCACCTTCATTATAAATCATCACTATATGTTTTATTTGAAGATGAAAGATTAATTTTTTTTCTTATTGATATCCTTTTGTACTTAATCGATACTTTCCTAGTGGTGTTTTTACATTCTGCCTTTTGTTATAGCTTTGTTTTCTCTCCCTCATTAGAGTAGGGTCTTTGCTTTCATCTTTGTTTTCTTCACAGTACATGATGGGTGCTCAATAATGGTTTGAATGAATAAGTGAACGAAAACAGATTTTTTTTTTTATGACACAGAGTCTTGCTCTGTCACTTGGGCTGGAGTGCAGTGGCACGATCTCGGCTCACCGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAATTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAGGTGCTGGGATTATAGACGTGAGCCACCGCACATGGCTGAAAACAGATTTTGGAATGATGAAGCTTCAGTTTGTCCAGTTAAATCATTATTTTATGTTAAGCAAGTGTTTTGAAATAAAATAACTGTCTTTTGCTATTCCACTTTTGATTTTTCTGCCTTGGTCAGAGCCCTCCTTCCCAGAGTCCCACATTTGCCAGCTTCTGCTTTAAGTAAATGTATATTGATAGGGTATAGTAATATTTTATATTATGAATTAATATTTATGTTAAATATATGCAGTATTAAATATTAAATACATTATATACTATTTATTCATATATCTAGATATATATTTCTAAATGTTTATAAGAAGTGTCCAAAGTCCCTTTTTGTTATTTCACCACACCACTTAAGGGAAAGAAATAGGTACATTAAAAGTAGAGGCTGGGCGCGGTGGCTTATGCCTATGATCCTAGCATTTTGGGAGGCCGAGGCAGGCTGATAGATTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAGACTCCTTCTCTACTAAAAATGCAAAAAATTAGCTGGGCGTGGTGGTCACAGTTACTTGGGAGGCCAAAGTGGGAGGATTGCTTGAGCCTGGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGTGAAACCCTGTCTCAAAACAAAACAAAACAAAAAAAAAGGTTGAATAGTCTTTTCAAGTGTCATTTGCCATCCTAAATACTTGGTTTTTCTTATTTCTCTCCCTGGTGACCAGGAGTGTGAGGAAGAGGCTGTCTGTGTCATTATGTGTGCGTCGGTCAAGTATAATATCCGGGGTCCTGCCCTCATCCCAAGAATGAAGACCAAGCACCGAATCTACTATATCACCCTCTTCTCCATTGTCCTCCTGGGCCTCATTGCCACTGGCATGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAATGACTGGAATGTAGAGAAGCGCAGCATCCGTGATGTGCCGGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGAATGCACACGTGTTTTGATGTCTATCGCTGTGGCTTCAACCCAAAGAACAAAATCAAGGTGTATATCTATGCTCTGAAAAAGTACGTGGATGACTTTGGCGTCTCTGTCAGCAACACCATCTCCCGGGAGTATAATGAACTGCTTGCTCATGGCCATCTCAGACAGTGACTACTACACTGATGACATCAACCGGGCCTGTCTGTTTGTTCCCTCCATCGATGTGCTTAACCAGAACACACTGCGCATCAAGGAGACAGCACAAGCGATGGCCCAGCTCTCTAGGTATCTCACACTCATACAGCCCAGCCCCCAGGAGATACTTGAGTGGCCCTCAGGGAACTAAAGGGAAGGGAAGGATGGGAATGCTTCTGCTCTTGAGTTGGTTTCCCGATGCTGTCTTCTTGCAGGACGGGGTGTGTTGGAGGGACTGACTTGCAGCATGAGGCCTGTGTGGCAGCATCTGCCTGTGTGCCCGTGAAGAGTAGTCTGCCATCTCCGGCACTACTGCTGTGGGTTCCCAGCCTCTTAGAGTTTCCAAACTAAGCGTGGCTCTTCTTCATTTATTCTTCCTTTTAAATCTAAATATGCTACCACCTCCTCGTAGCACTTACATAATACACATTCACTGTAAGAAATCTGAAAATACAGGTAAGCAAAAAGAAGAATCTAAGATTCATTCTGAAATCCTTCCTCTAAGAGATAAACATTATTAATATTTTGATGTTACTAAAAATACACATACACATCTGTATATAAATGTTTTGTTCCAAATGGGATCACACAGTACATACTCTTTTGCTTTTTCCCTTAATATATCATGAATATATTTCCAAATTATGACATAATTTTATGTTCTTTTACTATATAACTTTAAGGGTTGCATAGTATTCCATTTTGCAGATGTTCTACCATATATTTAACCAGGCTTCTCTAATGTATTTTGTGTTTCTTTAACCAAATGGTGAACATTTGGGTAGTTTTCAACTTTTCATTATTAGAAGCAGGTCTGTATGGGACAAGCTTGAAGTACACGTGCGTTCATTTTTCCCTGTCATGGAGCCAGACTTGTGTCTGATGTGCTGTTGGGATTTCCAGGAGTTTGCTTTGCATACCTGAGAAGCGGCCCTATTTGGGCTTGGGGATCCTTGATAGTTGTTGTCTAGTAACTGACTCTTGTCTTTTCATAGTTGACACATTAATTCTCCTACATTTTAAATTTCTTGACAGGTGGGATCGAGGTACGAATCACCTGTTGTTCAACATGTTGCCTGGAGGTCCCCCAGATTATAACACAGCCCTGGATGTCCCCAGAGACAGGTAGGAGGCATATTTGGGGCTGTCCTTATGATGGGTTCAAGATCATTTTGTTCATGTGAAATTATATTCCTAAATCTACCACATACTTTGTAATCAGAATTGTTTATTAAACTAGAAAATTGTCATAAGTATTTTCCTCCTGAAGATTTAGAAGTGCTTAAATCTTTTATGGAAAACCAGTTAGGGCTTATGTCCTGGCATAGCCTCTAAAACTGTTTTCCCACTCTGGATTGTGCACTTCTGAGTGTAACACATCCAGCCCCCAAAAGTGTGACAGGCTTGTGCTAGCTCTCTCTGAATTCGGGAGCATTTGCCACAAGTAGATGCACAGCTTACTGAGAGAAGGTAGCGTGGATATGTAAAAGCGATACCCAAAGCCTATAATGTAGAGGGTAATGGGGGCACGCTGATTCTCATTTACTTTCTGTTGTTTCAATCAGTAGGGTTCTTTCTGTCCGTTCCTCCCTCCCTCCCTGCCTGCCTGCCTTCATTATTCGCCCCTCTTGCCTTTCGTTCCTTCCAGAAAAACCTTCCAAATAGGCAGATGTGGTATGGGGTGGCCATGACTGCCTGAGAGTGACTTTGAGTTCACTCACTGTATTTATCTGCCCTTTCATCACTGACTGAAAGATTTTGGTATGAGCTTTCTTGGAAAGCTCTGGTATGAGGTGCTACTTAAGGGACCTCTCTTAGTGCTGGGTTCAAGGCTTTGAGGAAAGTAGAAAGTTGGGGCGCAATATATAAGCGTCGCGGGCAATGCTCAAGGTATAGAATTGTTAACAGTTCACCTAAACTTGTTTATCACCAGTCTTATTACAGTTGGTGTTTAACTCTTAAACTCATTGTTAACTGAAAAGGTAACAGCCTGA
pathogenic
174,700
Chromosome 11, position 44108161, gene EXT2 (exostosin glycosyltransferase 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
pathogenic; ['EXT2-related_disorder', 'Exostoses,_multiple,_type_2']
AAACATCACTTCAGCCACATTTTCTTGGTCAAAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACATGGATTCTACATTTTGTTTGGAGAAGTACCATGCAAATTCAGGGATGGAAAGAACTGTTGGTGTTCGTCTTTGTAAATGAATCTACCACATTGGCCCTTTTCCTCCCTTTCTCCCTTCTCTCTCTTTCTCTTCCTTTTCCTCCCTCCCTTTGTCTCTCCTACCCCATTCCTTTCTTCATTTCTTCCATTTATCTAAATGCAACTATCACCTTCATTATAAATCATCACTATATGTTTTATTTGAAGATGAAAGATTAATTTTTTTTCTTATTGATATCCTTTTGTACTTAATCGATACTTTCCTAGTGGTGTTTTTACATTCTGCCTTTTGTTATAGCTTTGTTTTCTCTCCCTCATTAGAGTAGGGTCTTTGCTTTCATCTTTGTTTTCTTCACAGTACATGATGGGTGCTCAATAATGGTTTGAATGAATAAGTGAACGAAAACAGATTTTTTTTTTTATGACACAGAGTCTTGCTCTGTCACTTGGGCTGGAGTGCAGTGGCACGATCTCGGCTCACCGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAATTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAGGTGCTGGGATTATAGACGTGAGCCACCGCACATGGCTGAAAACAGATTTTGGAATGATGAAGCTTCAGTTTGTCCAGTTAAATCATTATTTTATGTTAAGCAAGTGTTTTGAAATAAAATAACTGTCTTTTGCTATTCCACTTTTGATTTTTCTGCCTTGGTCAGAGCCCTCCTTCCCAGAGTCCCACATTTGCCAGCTTCTGCTTTAAGTAAATGTATATTGATAGGGTATAGTAATATTTTATATTATGAATTAATATTTATGTTAAATATATGCAGTATTAAATATTAAATACATTATATACTATTTATTCATATATCTAGATATATATTTCTAAATGTTTATAAGAAGTGTCCAAAGTCCCTTTTTGTTATTTCACCACACCACTTAAGGGAAAGAAATAGGTACATTAAAAGTAGAGGCTGGGCGCGGTGGCTTATGCCTATGATCCTAGCATTTTGGGAGGCCGAGGCAGGCTGATAGATTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAGACTCCTTCTCTACTAAAAATGCAAAAAATTAGCTGGGCGTGGTGGTCACAGTTACTTGGGAGGCCAAAGTGGGAGGATTGCTTGAGCCTGGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGTGAAACCCTGTCTCAAAACAAAACAAAACAAAAAAAAAGGTTGAATAGTCTTTTCAAGTGTCATTTGCCATCCTAAATACTTGGTTTTTCTTATTTCTCTCCCTGGTGACCAGGAGTGTGAGGAAGAGGCTGTCTGTGTCATTATGTGTGCGTCGGTCAAGTATAATATCCGGGGTCCTGCCCTCATCCCAAGAATGAAGACCAAGCACCGAATCTACTATATCACCCTCTTCTCCATTGTCCTCCTGGGCCTCATTGCCACTGGCATGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAATGACTGGAATGTAGAGAAGCGCAGCATCCGTGATGTGCCGGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGAATGCACACGTGTTTTGATGTCTATCGCTGTGGCTTCAACCCAAAGAACAAAATCAAGGTGTATATCTATGCTCTGAAAAAGTACGTGGATGACTTTGGCGTCTCTGTCAGCAACACCATCTCCCGGGAGTATAATGAACTGCTCATGGCCATCTCAGACAGTGACTACTACACTGATGACATCAACCGGGCCTGTCTGTTTGTTCCCTCCATCGATGTGCTTAACCAGAACACACTGCGCATCAAGGAGACAGCACAAGCGATGGCCCAGCTCTCTAGGTATCTCACACTCATACAGCCCAGCCCCCAGGAGATACTTGAGTGGCCCTCAGGGAACTAAAGGGAAGGGAAGGATGGGAATGCTTCTGCTCTTGAGTTGGTTTCCCGATGCTGTCTTCTTGCAGGACGGGGTGTGTTGGAGGGACTGACTTGCAGCATGAGGCCTGTGTGGCAGCATCTGCCTGTGTGCCCGTGAAGAGTAGTCTGCCATCTCCGGCACTACTGCTGTGGGTTCCCAGCCTCTTAGAGTTTCCAAACTAAGCGTGGCTCTTCTTCATTTATTCTTCCTTTTAAATCTAAATATGCTACCACCTCCTCGTAGCACTTACATAATACACATTCACTGTAAGAAATCTGAAAATACAGGTAAGCAAAAAGAAGAATCTAAGATTCATTCTGAAATCCTTCCTCTAAGAGATAAACATTATTAATATTTTGATGTTACTAAAAATACACATACACATCTGTATATAAATGTTTTGTTCCAAATGGGATCACACAGTACATACTCTTTTGCTTTTTCCCTTAATATATCATGAATATATTTCCAAATTATGACATAATTTTATGTTCTTTTACTATATAACTTTAAGGGTTGCATAGTATTCCATTTTGCAGATGTTCTACCATATATTTAACCAGGCTTCTCTAATGTATTTTGTGTTTCTTTAACCAAATGGTGAACATTTGGGTAGTTTTCAACTTTTCATTATTAGAAGCAGGTCTGTATGGGACAAGCTTGAAGTACACGTGCGTTCATTTTTCCCTGTCATGGAGCCAGACTTGTGTCTGATGTGCTGTTGGGATTTCCAGGAGTTTGCTTTGCATACCTGAGAAGCGGCCCTATTTGGGCTTGGGGATCCTTGATAGTTGTTGTCTAGTAACTGACTCTTGTCTTTTCATAGTTGACACATTAATTCTCCTACATTTTAAATTTCTTGACAGGTGGGATCGAGGTACGAATCACCTGTTGTTCAACATGTTGCCTGGAGGTCCCCCAGATTATAACACAGCCCTGGATGTCCCCAGAGACAGGTAGGAGGCATATTTGGGGCTGTCCTTATGATGGGTTCAAGATCATTTTGTTCATGTGAAATTATATTCCTAAATCTACCACATACTTTGTAATCAGAATTGTTTATTAAACTAGAAAATTGTCATAAGTATTTTCCTCCTGAAGATTTAGAAGTGCTTAAATCTTTTATGGAAAACCAGTTAGGGCTTATGTCCTGGCATAGCCTCTAAAACTGTTTTCCCACTCTGGATTGTGCACTTCTGAGTGTAACACATCCAGCCCCCAAAAGTGTGACAGGCTTGTGCTAGCTCTCTCTGAATTCGGGAGCATTTGCCACAAGTAGATGCACAGCTTACTGAGAGAAGGTAGCGTGGATATGTAAAAGCGATACCCAAAGCCTATAATGTAGAGGGTAATGGGGGCACGCTGATTCTCATTTACTTTCTGTTGTTTCAATCAGTAGGGTTCTTTCTGTCCGTTCCTCCCTCCCTCCCTGCCTGCCTGCCTTCATTATTCGCCCCTCTTGCCTTTCGTTCCTTCCAGAAAAACCTTCCAAATAGGCAGATGTGGTATGGGGTGGCCATGACTGCCTGAGAGTGACTTTGAGTTCACTCACTGTATTTATCTGCCCTTTCATCACTGACTGAAAGATTTTGGTATGAGCTTTCTTGGAAAGCTCTGGTATGAGGTGCTACTTAAGGGACCTCTCTTAGTGCTGGGTTCAAGGCTTTGAGGAAAGTAGAAAGTTGGGGCGCAATATATAAGCGTCGCGGGCAATGCTCAAGGTATAGAATTGTTAACAGTTCACCTAAACTTGTTTATCACCAGTCTTATTACAGTTGGTGTTTAACTCTTAAACTCATTGTTAACTGAAAAGGTAACAGCCTGAGGTATTAGCCTGAGAACAGCCTGAGGCTAGTTCTCAACTTGTTAGAGGCTAACATT
AAACATCACTTCAGCCACATTTTCTTGGTCAAAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACATGGATTCTACATTTTGTTTGGAGAAGTACCATGCAAATTCAGGGATGGAAAGAACTGTTGGTGTTCGTCTTTGTAAATGAATCTACCACATTGGCCCTTTTCCTCCCTTTCTCCCTTCTCTCTCTTTCTCTTCCTTTTCCTCCCTCCCTTTGTCTCTCCTACCCCATTCCTTTCTTCATTTCTTCCATTTATCTAAATGCAACTATCACCTTCATTATAAATCATCACTATATGTTTTATTTGAAGATGAAAGATTAATTTTTTTTCTTATTGATATCCTTTTGTACTTAATCGATACTTTCCTAGTGGTGTTTTTACATTCTGCCTTTTGTTATAGCTTTGTTTTCTCTCCCTCATTAGAGTAGGGTCTTTGCTTTCATCTTTGTTTTCTTCACAGTACATGATGGGTGCTCAATAATGGTTTGAATGAATAAGTGAACGAAAACAGATTTTTTTTTTTATGACACAGAGTCTTGCTCTGTCACTTGGGCTGGAGTGCAGTGGCACGATCTCGGCTCACCGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAATTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAGGTGCTGGGATTATAGACGTGAGCCACCGCACATGGCTGAAAACAGATTTTGGAATGATGAAGCTTCAGTTTGTCCAGTTAAATCATTATTTTATGTTAAGCAAGTGTTTTGAAATAAAATAACTGTCTTTTGCTATTCCACTTTTGATTTTTCTGCCTTGGTCAGAGCCCTCCTTCCCAGAGTCCCACATTTGCCAGCTTCTGCTTTAAGTAAATGTATATTGATAGGGTATAGTAATATTTTATATTATGAATTAATATTTATGTTAAATATATGCAGTATTAAATATTAAATACATTATATACTATTTATTCATATATCTAGATATATATTTCTAAATGTTTATAAGAAGTGTCCAAAGTCCCTTTTTGTTATTTCACCACACCACTTAAGGGAAAGAAATAGGTACATTAAAAGTAGAGGCTGGGCGCGGTGGCTTATGCCTATGATCCTAGCATTTTGGGAGGCCGAGGCAGGCTGATAGATTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAGACTCCTTCTCTACTAAAAATGCAAAAAATTAGCTGGGCGTGGTGGTCACAGTTACTTGGGAGGCCAAAGTGGGAGGATTGCTTGAGCCTGGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGTGAAACCCTGTCTCAAAACAAAACAAAACAAAAAAAAAGGTTGAATAGTCTTTTCAAGTGTCATTTGCCATCCTAAATACTTGGTTTTTCTTATTTCTCTCCCTGGTGACCAGGAGTGTGAGGAAGAGGCTGTCTGTGTCATTATGTGTGCGTCGGTCAAGTATAATATCCGGGGTCCTGCCCTCATCCCAAGAATGAAGACCAAGCACCGAATCTACTATATCACCCTCTTCTCCATTGTCCTCCTGGGCCTCATTGCCACTGGCATGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAATGACTGGAATGTAGAGAAGCGCAGCATCCGTGATGTGCCGGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGAATGCACACGTGTTTTGATGTCTATCGCTGTGGCTTCAACCCAAAGAACAAAATCAAGGTGTATATCTATGCTCTGAAAAAGTACGTGGATGACTTTGGCGTCTCTGTCAGCAACACCATCTCCCGGGAGTATAATGAACTGCTCATGGCCATCTCAGACAGTGACTACTACACTGATGACATCAACCGGGCCTGTTTGTTCCCTCCATCGATGTGCTTAACCAGAACACACTGCGCATCAAGGAGACAGCACAAGCGATGGCCCAGCTCTCTAGGTATCTCACACTCATACAGCCCAGCCCCCAGGAGATACTTGAGTGGCCCTCAGGGAACTAAAGGGAAGGGAAGGATGGGAATGCTTCTGCTCTTGAGTTGGTTTCCCGATGCTGTCTTCTTGCAGGACGGGGTGTGTTGGAGGGACTGACTTGCAGCATGAGGCCTGTGTGGCAGCATCTGCCTGTGTGCCCGTGAAGAGTAGTCTGCCATCTCCGGCACTACTGCTGTGGGTTCCCAGCCTCTTAGAGTTTCCAAACTAAGCGTGGCTCTTCTTCATTTATTCTTCCTTTTAAATCTAAATATGCTACCACCTCCTCGTAGCACTTACATAATACACATTCACTGTAAGAAATCTGAAAATACAGGTAAGCAAAAAGAAGAATCTAAGATTCATTCTGAAATCCTTCCTCTAAGAGATAAACATTATTAATATTTTGATGTTACTAAAAATACACATACACATCTGTATATAAATGTTTTGTTCCAAATGGGATCACACAGTACATACTCTTTTGCTTTTTCCCTTAATATATCATGAATATATTTCCAAATTATGACATAATTTTATGTTCTTTTACTATATAACTTTAAGGGTTGCATAGTATTCCATTTTGCAGATGTTCTACCATATATTTAACCAGGCTTCTCTAATGTATTTTGTGTTTCTTTAACCAAATGGTGAACATTTGGGTAGTTTTCAACTTTTCATTATTAGAAGCAGGTCTGTATGGGACAAGCTTGAAGTACACGTGCGTTCATTTTTCCCTGTCATGGAGCCAGACTTGTGTCTGATGTGCTGTTGGGATTTCCAGGAGTTTGCTTTGCATACCTGAGAAGCGGCCCTATTTGGGCTTGGGGATCCTTGATAGTTGTTGTCTAGTAACTGACTCTTGTCTTTTCATAGTTGACACATTAATTCTCCTACATTTTAAATTTCTTGACAGGTGGGATCGAGGTACGAATCACCTGTTGTTCAACATGTTGCCTGGAGGTCCCCCAGATTATAACACAGCCCTGGATGTCCCCAGAGACAGGTAGGAGGCATATTTGGGGCTGTCCTTATGATGGGTTCAAGATCATTTTGTTCATGTGAAATTATATTCCTAAATCTACCACATACTTTGTAATCAGAATTGTTTATTAAACTAGAAAATTGTCATAAGTATTTTCCTCCTGAAGATTTAGAAGTGCTTAAATCTTTTATGGAAAACCAGTTAGGGCTTATGTCCTGGCATAGCCTCTAAAACTGTTTTCCCACTCTGGATTGTGCACTTCTGAGTGTAACACATCCAGCCCCCAAAAGTGTGACAGGCTTGTGCTAGCTCTCTCTGAATTCGGGAGCATTTGCCACAAGTAGATGCACAGCTTACTGAGAGAAGGTAGCGTGGATATGTAAAAGCGATACCCAAAGCCTATAATGTAGAGGGTAATGGGGGCACGCTGATTCTCATTTACTTTCTGTTGTTTCAATCAGTAGGGTTCTTTCTGTCCGTTCCTCCCTCCCTCCCTGCCTGCCTGCCTTCATTATTCGCCCCTCTTGCCTTTCGTTCCTTCCAGAAAAACCTTCCAAATAGGCAGATGTGGTATGGGGTGGCCATGACTGCCTGAGAGTGACTTTGAGTTCACTCACTGTATTTATCTGCCCTTTCATCACTGACTGAAAGATTTTGGTATGAGCTTTCTTGGAAAGCTCTGGTATGAGGTGCTACTTAAGGGACCTCTCTTAGTGCTGGGTTCAAGGCTTTGAGGAAAGTAGAAAGTTGGGGCGCAATATATAAGCGTCGCGGGCAATGCTCAAGGTATAGAATTGTTAACAGTTCACCTAAACTTGTTTATCACCAGTCTTATTACAGTTGGTGTTTAACTCTTAAACTCATTGTTAACTGAAAAGGTAACAGCCTGAGGTATTAGCCTGAGAACAGCCTGAGGCTAGTTCTCAACTTGTTAGAGGCTAACATTNNNN
pathogenic
174,701
The genetic variant at chromosome 11, position 44108166, affecting gene EXT2 (exostosin glycosyltransferase 2): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Exostoses,_multiple,_type_2']
TCACTTCAGCCACATTTTCTTGGTCAAAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACATGGATTCTACATTTTGTTTGGAGAAGTACCATGCAAATTCAGGGATGGAAAGAACTGTTGGTGTTCGTCTTTGTAAATGAATCTACCACATTGGCCCTTTTCCTCCCTTTCTCCCTTCTCTCTCTTTCTCTTCCTTTTCCTCCCTCCCTTTGTCTCTCCTACCCCATTCCTTTCTTCATTTCTTCCATTTATCTAAATGCAACTATCACCTTCATTATAAATCATCACTATATGTTTTATTTGAAGATGAAAGATTAATTTTTTTTCTTATTGATATCCTTTTGTACTTAATCGATACTTTCCTAGTGGTGTTTTTACATTCTGCCTTTTGTTATAGCTTTGTTTTCTCTCCCTCATTAGAGTAGGGTCTTTGCTTTCATCTTTGTTTTCTTCACAGTACATGATGGGTGCTCAATAATGGTTTGAATGAATAAGTGAACGAAAACAGATTTTTTTTTTTATGACACAGAGTCTTGCTCTGTCACTTGGGCTGGAGTGCAGTGGCACGATCTCGGCTCACCGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAATTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAGGTGCTGGGATTATAGACGTGAGCCACCGCACATGGCTGAAAACAGATTTTGGAATGATGAAGCTTCAGTTTGTCCAGTTAAATCATTATTTTATGTTAAGCAAGTGTTTTGAAATAAAATAACTGTCTTTTGCTATTCCACTTTTGATTTTTCTGCCTTGGTCAGAGCCCTCCTTCCCAGAGTCCCACATTTGCCAGCTTCTGCTTTAAGTAAATGTATATTGATAGGGTATAGTAATATTTTATATTATGAATTAATATTTATGTTAAATATATGCAGTATTAAATATTAAATACATTATATACTATTTATTCATATATCTAGATATATATTTCTAAATGTTTATAAGAAGTGTCCAAAGTCCCTTTTTGTTATTTCACCACACCACTTAAGGGAAAGAAATAGGTACATTAAAAGTAGAGGCTGGGCGCGGTGGCTTATGCCTATGATCCTAGCATTTTGGGAGGCCGAGGCAGGCTGATAGATTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAGACTCCTTCTCTACTAAAAATGCAAAAAATTAGCTGGGCGTGGTGGTCACAGTTACTTGGGAGGCCAAAGTGGGAGGATTGCTTGAGCCTGGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGTGAAACCCTGTCTCAAAACAAAACAAAACAAAAAAAAAGGTTGAATAGTCTTTTCAAGTGTCATTTGCCATCCTAAATACTTGGTTTTTCTTATTTCTCTCCCTGGTGACCAGGAGTGTGAGGAAGAGGCTGTCTGTGTCATTATGTGTGCGTCGGTCAAGTATAATATCCGGGGTCCTGCCCTCATCCCAAGAATGAAGACCAAGCACCGAATCTACTATATCACCCTCTTCTCCATTGTCCTCCTGGGCCTCATTGCCACTGGCATGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAATGACTGGAATGTAGAGAAGCGCAGCATCCGTGATGTGCCGGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGAATGCACACGTGTTTTGATGTCTATCGCTGTGGCTTCAACCCAAAGAACAAAATCAAGGTGTATATCTATGCTCTGAAAAAGTACGTGGATGACTTTGGCGTCTCTGTCAGCAACACCATCTCCCGGGAGTATAATGAACTGCTCATGGCCATCTCAGACAGTGACTACTACACTGATGACATCAACCGGGCCTGTCTGTTTGTTCCCTCCATCGATGTGCTTAACCAGAACACACTGCGCATCAAGGAGACAGCACAAGCGATGGCCCAGCTCTCTAGGTATCTCACACTCATACAGCCCAGCCCCCAGGAGATACTTGAGTGGCCCTCAGGGAACTAAAGGGAAGGGAAGGATGGGAATGCTTCTGCTCTTGAGTTGGTTTCCCGATGCTGTCTTCTTGCAGGACGGGGTGTGTTGGAGGGACTGACTTGCAGCATGAGGCCTGTGTGGCAGCATCTGCCTGTGTGCCCGTGAAGAGTAGTCTGCCATCTCCGGCACTACTGCTGTGGGTTCCCAGCCTCTTAGAGTTTCCAAACTAAGCGTGGCTCTTCTTCATTTATTCTTCCTTTTAAATCTAAATATGCTACCACCTCCTCGTAGCACTTACATAATACACATTCACTGTAAGAAATCTGAAAATACAGGTAAGCAAAAAGAAGAATCTAAGATTCATTCTGAAATCCTTCCTCTAAGAGATAAACATTATTAATATTTTGATGTTACTAAAAATACACATACACATCTGTATATAAATGTTTTGTTCCAAATGGGATCACACAGTACATACTCTTTTGCTTTTTCCCTTAATATATCATGAATATATTTCCAAATTATGACATAATTTTATGTTCTTTTACTATATAACTTTAAGGGTTGCATAGTATTCCATTTTGCAGATGTTCTACCATATATTTAACCAGGCTTCTCTAATGTATTTTGTGTTTCTTTAACCAAATGGTGAACATTTGGGTAGTTTTCAACTTTTCATTATTAGAAGCAGGTCTGTATGGGACAAGCTTGAAGTACACGTGCGTTCATTTTTCCCTGTCATGGAGCCAGACTTGTGTCTGATGTGCTGTTGGGATTTCCAGGAGTTTGCTTTGCATACCTGAGAAGCGGCCCTATTTGGGCTTGGGGATCCTTGATAGTTGTTGTCTAGTAACTGACTCTTGTCTTTTCATAGTTGACACATTAATTCTCCTACATTTTAAATTTCTTGACAGGTGGGATCGAGGTACGAATCACCTGTTGTTCAACATGTTGCCTGGAGGTCCCCCAGATTATAACACAGCCCTGGATGTCCCCAGAGACAGGTAGGAGGCATATTTGGGGCTGTCCTTATGATGGGTTCAAGATCATTTTGTTCATGTGAAATTATATTCCTAAATCTACCACATACTTTGTAATCAGAATTGTTTATTAAACTAGAAAATTGTCATAAGTATTTTCCTCCTGAAGATTTAGAAGTGCTTAAATCTTTTATGGAAAACCAGTTAGGGCTTATGTCCTGGCATAGCCTCTAAAACTGTTTTCCCACTCTGGATTGTGCACTTCTGAGTGTAACACATCCAGCCCCCAAAAGTGTGACAGGCTTGTGCTAGCTCTCTCTGAATTCGGGAGCATTTGCCACAAGTAGATGCACAGCTTACTGAGAGAAGGTAGCGTGGATATGTAAAAGCGATACCCAAAGCCTATAATGTAGAGGGTAATGGGGGCACGCTGATTCTCATTTACTTTCTGTTGTTTCAATCAGTAGGGTTCTTTCTGTCCGTTCCTCCCTCCCTCCCTGCCTGCCTGCCTTCATTATTCGCCCCTCTTGCCTTTCGTTCCTTCCAGAAAAACCTTCCAAATAGGCAGATGTGGTATGGGGTGGCCATGACTGCCTGAGAGTGACTTTGAGTTCACTCACTGTATTTATCTGCCCTTTCATCACTGACTGAAAGATTTTGGTATGAGCTTTCTTGGAAAGCTCTGGTATGAGGTGCTACTTAAGGGACCTCTCTTAGTGCTGGGTTCAAGGCTTTGAGGAAAGTAGAAAGTTGGGGCGCAATATATAAGCGTCGCGGGCAATGCTCAAGGTATAGAATTGTTAACAGTTCACCTAAACTTGTTTATCACCAGTCTTATTACAGTTGGTGTTTAACTCTTAAACTCATTGTTAACTGAAAAGGTAACAGCCTGAGGTATTAGCCTGAGAACAGCCTGAGGCTAGTTCTCAACTTGTTAGAGGCTAACATTATCAT
TCACTTCAGCCACATTTTCTTGGTCAAAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACATGGATTCTACATTTTGTTTGGAGAAGTACCATGCAAATTCAGGGATGGAAAGAACTGTTGGTGTTCGTCTTTGTAAATGAATCTACCACATTGGCCCTTTTCCTCCCTTTCTCCCTTCTCTCTCTTTCTCTTCCTTTTCCTCCCTCCCTTTGTCTCTCCTACCCCATTCCTTTCTTCATTTCTTCCATTTATCTAAATGCAACTATCACCTTCATTATAAATCATCACTATATGTTTTATTTGAAGATGAAAGATTAATTTTTTTTCTTATTGATATCCTTTTGTACTTAATCGATACTTTCCTAGTGGTGTTTTTACATTCTGCCTTTTGTTATAGCTTTGTTTTCTCTCCCTCATTAGAGTAGGGTCTTTGCTTTCATCTTTGTTTTCTTCACAGTACATGATGGGTGCTCAATAATGGTTTGAATGAATAAGTGAACGAAAACAGATTTTTTTTTTTATGACACAGAGTCTTGCTCTGTCACTTGGGCTGGAGTGCAGTGGCACGATCTCGGCTCACCGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAATTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAGGTGCTGGGATTATAGACGTGAGCCACCGCACATGGCTGAAAACAGATTTTGGAATGATGAAGCTTCAGTTTGTCCAGTTAAATCATTATTTTATGTTAAGCAAGTGTTTTGAAATAAAATAACTGTCTTTTGCTATTCCACTTTTGATTTTTCTGCCTTGGTCAGAGCCCTCCTTCCCAGAGTCCCACATTTGCCAGCTTCTGCTTTAAGTAAATGTATATTGATAGGGTATAGTAATATTTTATATTATGAATTAATATTTATGTTAAATATATGCAGTATTAAATATTAAATACATTATATACTATTTATTCATATATCTAGATATATATTTCTAAATGTTTATAAGAAGTGTCCAAAGTCCCTTTTTGTTATTTCACCACACCACTTAAGGGAAAGAAATAGGTACATTAAAAGTAGAGGCTGGGCGCGGTGGCTTATGCCTATGATCCTAGCATTTTGGGAGGCCGAGGCAGGCTGATAGATTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAGACTCCTTCTCTACTAAAAATGCAAAAAATTAGCTGGGCGTGGTGGTCACAGTTACTTGGGAGGCCAAAGTGGGAGGATTGCTTGAGCCTGGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGTGAAACCCTGTCTCAAAACAAAACAAAACAAAAAAAAAGGTTGAATAGTCTTTTCAAGTGTCATTTGCCATCCTAAATACTTGGTTTTTCTTATTTCTCTCCCTGGTGACCAGGAGTGTGAGGAAGAGGCTGTCTGTGTCATTATGTGTGCGTCGGTCAAGTATAATATCCGGGGTCCTGCCCTCATCCCAAGAATGAAGACCAAGCACCGAATCTACTATATCACCCTCTTCTCCATTGTCCTCCTGGGCCTCATTGCCACTGGCATGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAATGACTGGAATGTAGAGAAGCGCAGCATCCGTGATGTGCCGGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGAATGCACACGTGTTTTGATGTCTATCGCTGTGGCTTCAACCCAAAGAACAAAATCAAGGTGTATATCTATGCTCTGAAAAAGTACGTGGATGACTTTGGCGTCTCTGTCAGCAACACCATCTCCCGGGAGTATAATGAACTGCTCATGGCCATCTCAGACAGTGACTACTACACTGATGACATCAACCGGGCCTGTCTGTTCCCTCCATCGATGTGCTTAACCAGAACACACTGCGCATCAAGGAGACAGCACAAGCGATGGCCCAGCTCTCTAGGTATCTCACACTCATACAGCCCAGCCCCCAGGAGATACTTGAGTGGCCCTCAGGGAACTAAAGGGAAGGGAAGGATGGGAATGCTTCTGCTCTTGAGTTGGTTTCCCGATGCTGTCTTCTTGCAGGACGGGGTGTGTTGGAGGGACTGACTTGCAGCATGAGGCCTGTGTGGCAGCATCTGCCTGTGTGCCCGTGAAGAGTAGTCTGCCATCTCCGGCACTACTGCTGTGGGTTCCCAGCCTCTTAGAGTTTCCAAACTAAGCGTGGCTCTTCTTCATTTATTCTTCCTTTTAAATCTAAATATGCTACCACCTCCTCGTAGCACTTACATAATACACATTCACTGTAAGAAATCTGAAAATACAGGTAAGCAAAAAGAAGAATCTAAGATTCATTCTGAAATCCTTCCTCTAAGAGATAAACATTATTAATATTTTGATGTTACTAAAAATACACATACACATCTGTATATAAATGTTTTGTTCCAAATGGGATCACACAGTACATACTCTTTTGCTTTTTCCCTTAATATATCATGAATATATTTCCAAATTATGACATAATTTTATGTTCTTTTACTATATAACTTTAAGGGTTGCATAGTATTCCATTTTGCAGATGTTCTACCATATATTTAACCAGGCTTCTCTAATGTATTTTGTGTTTCTTTAACCAAATGGTGAACATTTGGGTAGTTTTCAACTTTTCATTATTAGAAGCAGGTCTGTATGGGACAAGCTTGAAGTACACGTGCGTTCATTTTTCCCTGTCATGGAGCCAGACTTGTGTCTGATGTGCTGTTGGGATTTCCAGGAGTTTGCTTTGCATACCTGAGAAGCGGCCCTATTTGGGCTTGGGGATCCTTGATAGTTGTTGTCTAGTAACTGACTCTTGTCTTTTCATAGTTGACACATTAATTCTCCTACATTTTAAATTTCTTGACAGGTGGGATCGAGGTACGAATCACCTGTTGTTCAACATGTTGCCTGGAGGTCCCCCAGATTATAACACAGCCCTGGATGTCCCCAGAGACAGGTAGGAGGCATATTTGGGGCTGTCCTTATGATGGGTTCAAGATCATTTTGTTCATGTGAAATTATATTCCTAAATCTACCACATACTTTGTAATCAGAATTGTTTATTAAACTAGAAAATTGTCATAAGTATTTTCCTCCTGAAGATTTAGAAGTGCTTAAATCTTTTATGGAAAACCAGTTAGGGCTTATGTCCTGGCATAGCCTCTAAAACTGTTTTCCCACTCTGGATTGTGCACTTCTGAGTGTAACACATCCAGCCCCCAAAAGTGTGACAGGCTTGTGCTAGCTCTCTCTGAATTCGGGAGCATTTGCCACAAGTAGATGCACAGCTTACTGAGAGAAGGTAGCGTGGATATGTAAAAGCGATACCCAAAGCCTATAATGTAGAGGGTAATGGGGGCACGCTGATTCTCATTTACTTTCTGTTGTTTCAATCAGTAGGGTTCTTTCTGTCCGTTCCTCCCTCCCTCCCTGCCTGCCTGCCTTCATTATTCGCCCCTCTTGCCTTTCGTTCCTTCCAGAAAAACCTTCCAAATAGGCAGATGTGGTATGGGGTGGCCATGACTGCCTGAGAGTGACTTTGAGTTCACTCACTGTATTTATCTGCCCTTTCATCACTGACTGAAAGATTTTGGTATGAGCTTTCTTGGAAAGCTCTGGTATGAGGTGCTACTTAAGGGACCTCTCTTAGTGCTGGGTTCAAGGCTTTGAGGAAAGTAGAAAGTTGGGGCGCAATATATAAGCGTCGCGGGCAATGCTCAAGGTATAGAATTGTTAACAGTTCACCTAAACTTGTTTATCACCAGTCTTATTACAGTTGGTGTTTAACTCTTAAACTCATTGTTAACTGAAAAGGTAACAGCCTGAGGTATTAGCCTGAGAACAGCCTGAGGCTAGTTCTCAACTTGTTAGAGGCTAACATTATCATNNNN
pathogenic
174,702
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 44108192, gene EXT2 (exostosin glycosyltransferase 2). What disease(s) is it linked to if pathogenic?
pathogenic; ['Exostoses,_multiple,_type_2']
AAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACATGGATTCTACATTTTGTTTGGAGAAGTACCATGCAAATTCAGGGATGGAAAGAACTGTTGGTGTTCGTCTTTGTAAATGAATCTACCACATTGGCCCTTTTCCTCCCTTTCTCCCTTCTCTCTCTTTCTCTTCCTTTTCCTCCCTCCCTTTGTCTCTCCTACCCCATTCCTTTCTTCATTTCTTCCATTTATCTAAATGCAACTATCACCTTCATTATAAATCATCACTATATGTTTTATTTGAAGATGAAAGATTAATTTTTTTTCTTATTGATATCCTTTTGTACTTAATCGATACTTTCCTAGTGGTGTTTTTACATTCTGCCTTTTGTTATAGCTTTGTTTTCTCTCCCTCATTAGAGTAGGGTCTTTGCTTTCATCTTTGTTTTCTTCACAGTACATGATGGGTGCTCAATAATGGTTTGAATGAATAAGTGAACGAAAACAGATTTTTTTTTTTATGACACAGAGTCTTGCTCTGTCACTTGGGCTGGAGTGCAGTGGCACGATCTCGGCTCACCGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAATTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAGGTGCTGGGATTATAGACGTGAGCCACCGCACATGGCTGAAAACAGATTTTGGAATGATGAAGCTTCAGTTTGTCCAGTTAAATCATTATTTTATGTTAAGCAAGTGTTTTGAAATAAAATAACTGTCTTTTGCTATTCCACTTTTGATTTTTCTGCCTTGGTCAGAGCCCTCCTTCCCAGAGTCCCACATTTGCCAGCTTCTGCTTTAAGTAAATGTATATTGATAGGGTATAGTAATATTTTATATTATGAATTAATATTTATGTTAAATATATGCAGTATTAAATATTAAATACATTATATACTATTTATTCATATATCTAGATATATATTTCTAAATGTTTATAAGAAGTGTCCAAAGTCCCTTTTTGTTATTTCACCACACCACTTAAGGGAAAGAAATAGGTACATTAAAAGTAGAGGCTGGGCGCGGTGGCTTATGCCTATGATCCTAGCATTTTGGGAGGCCGAGGCAGGCTGATAGATTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAGACTCCTTCTCTACTAAAAATGCAAAAAATTAGCTGGGCGTGGTGGTCACAGTTACTTGGGAGGCCAAAGTGGGAGGATTGCTTGAGCCTGGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGTGAAACCCTGTCTCAAAACAAAACAAAACAAAAAAAAAGGTTGAATAGTCTTTTCAAGTGTCATTTGCCATCCTAAATACTTGGTTTTTCTTATTTCTCTCCCTGGTGACCAGGAGTGTGAGGAAGAGGCTGTCTGTGTCATTATGTGTGCGTCGGTCAAGTATAATATCCGGGGTCCTGCCCTCATCCCAAGAATGAAGACCAAGCACCGAATCTACTATATCACCCTCTTCTCCATTGTCCTCCTGGGCCTCATTGCCACTGGCATGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAATGACTGGAATGTAGAGAAGCGCAGCATCCGTGATGTGCCGGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGAATGCACACGTGTTTTGATGTCTATCGCTGTGGCTTCAACCCAAAGAACAAAATCAAGGTGTATATCTATGCTCTGAAAAAGTACGTGGATGACTTTGGCGTCTCTGTCAGCAACACCATCTCCCGGGAGTATAATGAACTGCTCATGGCCATCTCAGACAGTGACTACTACACTGATGACATCAACCGGGCCTGTCTGTTTGTTCCCTCCATCGATGTGCTTAACCAGAACACACTGCGCATCAAGGAGACAGCACAAGCGATGGCCCAGCTCTCTAGGTATCTCACACTCATACAGCCCAGCCCCCAGGAGATACTTGAGTGGCCCTCAGGGAACTAAAGGGAAGGGAAGGATGGGAATGCTTCTGCTCTTGAGTTGGTTTCCCGATGCTGTCTTCTTGCAGGACGGGGTGTGTTGGAGGGACTGACTTGCAGCATGAGGCCTGTGTGGCAGCATCTGCCTGTGTGCCCGTGAAGAGTAGTCTGCCATCTCCGGCACTACTGCTGTGGGTTCCCAGCCTCTTAGAGTTTCCAAACTAAGCGTGGCTCTTCTTCATTTATTCTTCCTTTTAAATCTAAATATGCTACCACCTCCTCGTAGCACTTACATAATACACATTCACTGTAAGAAATCTGAAAATACAGGTAAGCAAAAAGAAGAATCTAAGATTCATTCTGAAATCCTTCCTCTAAGAGATAAACATTATTAATATTTTGATGTTACTAAAAATACACATACACATCTGTATATAAATGTTTTGTTCCAAATGGGATCACACAGTACATACTCTTTTGCTTTTTCCCTTAATATATCATGAATATATTTCCAAATTATGACATAATTTTATGTTCTTTTACTATATAACTTTAAGGGTTGCATAGTATTCCATTTTGCAGATGTTCTACCATATATTTAACCAGGCTTCTCTAATGTATTTTGTGTTTCTTTAACCAAATGGTGAACATTTGGGTAGTTTTCAACTTTTCATTATTAGAAGCAGGTCTGTATGGGACAAGCTTGAAGTACACGTGCGTTCATTTTTCCCTGTCATGGAGCCAGACTTGTGTCTGATGTGCTGTTGGGATTTCCAGGAGTTTGCTTTGCATACCTGAGAAGCGGCCCTATTTGGGCTTGGGGATCCTTGATAGTTGTTGTCTAGTAACTGACTCTTGTCTTTTCATAGTTGACACATTAATTCTCCTACATTTTAAATTTCTTGACAGGTGGGATCGAGGTACGAATCACCTGTTGTTCAACATGTTGCCTGGAGGTCCCCCAGATTATAACACAGCCCTGGATGTCCCCAGAGACAGGTAGGAGGCATATTTGGGGCTGTCCTTATGATGGGTTCAAGATCATTTTGTTCATGTGAAATTATATTCCTAAATCTACCACATACTTTGTAATCAGAATTGTTTATTAAACTAGAAAATTGTCATAAGTATTTTCCTCCTGAAGATTTAGAAGTGCTTAAATCTTTTATGGAAAACCAGTTAGGGCTTATGTCCTGGCATAGCCTCTAAAACTGTTTTCCCACTCTGGATTGTGCACTTCTGAGTGTAACACATCCAGCCCCCAAAAGTGTGACAGGCTTGTGCTAGCTCTCTCTGAATTCGGGAGCATTTGCCACAAGTAGATGCACAGCTTACTGAGAGAAGGTAGCGTGGATATGTAAAAGCGATACCCAAAGCCTATAATGTAGAGGGTAATGGGGGCACGCTGATTCTCATTTACTTTCTGTTGTTTCAATCAGTAGGGTTCTTTCTGTCCGTTCCTCCCTCCCTCCCTGCCTGCCTGCCTTCATTATTCGCCCCTCTTGCCTTTCGTTCCTTCCAGAAAAACCTTCCAAATAGGCAGATGTGGTATGGGGTGGCCATGACTGCCTGAGAGTGACTTTGAGTTCACTCACTGTATTTATCTGCCCTTTCATCACTGACTGAAAGATTTTGGTATGAGCTTTCTTGGAAAGCTCTGGTATGAGGTGCTACTTAAGGGACCTCTCTTAGTGCTGGGTTCAAGGCTTTGAGGAAAGTAGAAAGTTGGGGCGCAATATATAAGCGTCGCGGGCAATGCTCAAGGTATAGAATTGTTAACAGTTCACCTAAACTTGTTTATCACCAGTCTTATTACAGTTGGTGTTTAACTCTTAAACTCATTGTTAACTGAAAAGGTAACAGCCTGAGGTATTAGCCTGAGAACAGCCTGAGGCTAGTTCTCAACTTGTTAGAGGCTAACATTATCATTTATGAAAATCGACACTTAGTATTCC
AAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACATGGATTCTACATTTTGTTTGGAGAAGTACCATGCAAATTCAGGGATGGAAAGAACTGTTGGTGTTCGTCTTTGTAAATGAATCTACCACATTGGCCCTTTTCCTCCCTTTCTCCCTTCTCTCTCTTTCTCTTCCTTTTCCTCCCTCCCTTTGTCTCTCCTACCCCATTCCTTTCTTCATTTCTTCCATTTATCTAAATGCAACTATCACCTTCATTATAAATCATCACTATATGTTTTATTTGAAGATGAAAGATTAATTTTTTTTCTTATTGATATCCTTTTGTACTTAATCGATACTTTCCTAGTGGTGTTTTTACATTCTGCCTTTTGTTATAGCTTTGTTTTCTCTCCCTCATTAGAGTAGGGTCTTTGCTTTCATCTTTGTTTTCTTCACAGTACATGATGGGTGCTCAATAATGGTTTGAATGAATAAGTGAACGAAAACAGATTTTTTTTTTTATGACACAGAGTCTTGCTCTGTCACTTGGGCTGGAGTGCAGTGGCACGATCTCGGCTCACCGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAATTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAGGTGCTGGGATTATAGACGTGAGCCACCGCACATGGCTGAAAACAGATTTTGGAATGATGAAGCTTCAGTTTGTCCAGTTAAATCATTATTTTATGTTAAGCAAGTGTTTTGAAATAAAATAACTGTCTTTTGCTATTCCACTTTTGATTTTTCTGCCTTGGTCAGAGCCCTCCTTCCCAGAGTCCCACATTTGCCAGCTTCTGCTTTAAGTAAATGTATATTGATAGGGTATAGTAATATTTTATATTATGAATTAATATTTATGTTAAATATATGCAGTATTAAATATTAAATACATTATATACTATTTATTCATATATCTAGATATATATTTCTAAATGTTTATAAGAAGTGTCCAAAGTCCCTTTTTGTTATTTCACCACACCACTTAAGGGAAAGAAATAGGTACATTAAAAGTAGAGGCTGGGCGCGGTGGCTTATGCCTATGATCCTAGCATTTTGGGAGGCCGAGGCAGGCTGATAGATTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAGACTCCTTCTCTACTAAAAATGCAAAAAATTAGCTGGGCGTGGTGGTCACAGTTACTTGGGAGGCCAAAGTGGGAGGATTGCTTGAGCCTGGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGTGAAACCCTGTCTCAAAACAAAACAAAACAAAAAAAAAGGTTGAATAGTCTTTTCAAGTGTCATTTGCCATCCTAAATACTTGGTTTTTCTTATTTCTCTCCCTGGTGACCAGGAGTGTGAGGAAGAGGCTGTCTGTGTCATTATGTGTGCGTCGGTCAAGTATAATATCCGGGGTCCTGCCCTCATCCCAAGAATGAAGACCAAGCACCGAATCTACTATATCACCCTCTTCTCCATTGTCCTCCTGGGCCTCATTGCCACTGGCATGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAATGACTGGAATGTAGAGAAGCGCAGCATCCGTGATGTGCCGGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGAATGCACACGTGTTTTGATGTCTATCGCTGTGGCTTCAACCCAAAGAACAAAATCAAGGTGTATATCTATGCTCTGAAAAAGTACGTGGATGACTTTGGCGTCTCTGTCAGCAACACCATCTCCCGGGAGTATAATGAACTGCTCATGGCCATCTCAGACAGTGACTACTACACTGATGACATCAACCGGGCCTGTCTGTTTGTTCCCTCCATCGATGTGCTTAAAACCAGAACACACTGCGCATCAAGGAGACAGCACAAGCGATGGCCCAGCTCTCTAGGTATCTCACACTCATACAGCCCAGCCCCCAGGAGATACTTGAGTGGCCCTCAGGGAACTAAAGGGAAGGGAAGGATGGGAATGCTTCTGCTCTTGAGTTGGTTTCCCGATGCTGTCTTCTTGCAGGACGGGGTGTGTTGGAGGGACTGACTTGCAGCATGAGGCCTGTGTGGCAGCATCTGCCTGTGTGCCCGTGAAGAGTAGTCTGCCATCTCCGGCACTACTGCTGTGGGTTCCCAGCCTCTTAGAGTTTCCAAACTAAGCGTGGCTCTTCTTCATTTATTCTTCCTTTTAAATCTAAATATGCTACCACCTCCTCGTAGCACTTACATAATACACATTCACTGTAAGAAATCTGAAAATACAGGTAAGCAAAAAGAAGAATCTAAGATTCATTCTGAAATCCTTCCTCTAAGAGATAAACATTATTAATATTTTGATGTTACTAAAAATACACATACACATCTGTATATAAATGTTTTGTTCCAAATGGGATCACACAGTACATACTCTTTTGCTTTTTCCCTTAATATATCATGAATATATTTCCAAATTATGACATAATTTTATGTTCTTTTACTATATAACTTTAAGGGTTGCATAGTATTCCATTTTGCAGATGTTCTACCATATATTTAACCAGGCTTCTCTAATGTATTTTGTGTTTCTTTAACCAAATGGTGAACATTTGGGTAGTTTTCAACTTTTCATTATTAGAAGCAGGTCTGTATGGGACAAGCTTGAAGTACACGTGCGTTCATTTTTCCCTGTCATGGAGCCAGACTTGTGTCTGATGTGCTGTTGGGATTTCCAGGAGTTTGCTTTGCATACCTGAGAAGCGGCCCTATTTGGGCTTGGGGATCCTTGATAGTTGTTGTCTAGTAACTGACTCTTGTCTTTTCATAGTTGACACATTAATTCTCCTACATTTTAAATTTCTTGACAGGTGGGATCGAGGTACGAATCACCTGTTGTTCAACATGTTGCCTGGAGGTCCCCCAGATTATAACACAGCCCTGGATGTCCCCAGAGACAGGTAGGAGGCATATTTGGGGCTGTCCTTATGATGGGTTCAAGATCATTTTGTTCATGTGAAATTATATTCCTAAATCTACCACATACTTTGTAATCAGAATTGTTTATTAAACTAGAAAATTGTCATAAGTATTTTCCTCCTGAAGATTTAGAAGTGCTTAAATCTTTTATGGAAAACCAGTTAGGGCTTATGTCCTGGCATAGCCTCTAAAACTGTTTTCCCACTCTGGATTGTGCACTTCTGAGTGTAACACATCCAGCCCCCAAAAGTGTGACAGGCTTGTGCTAGCTCTCTCTGAATTCGGGAGCATTTGCCACAAGTAGATGCACAGCTTACTGAGAGAAGGTAGCGTGGATATGTAAAAGCGATACCCAAAGCCTATAATGTAGAGGGTAATGGGGGCACGCTGATTCTCATTTACTTTCTGTTGTTTCAATCAGTAGGGTTCTTTCTGTCCGTTCCTCCCTCCCTCCCTGCCTGCCTGCCTTCATTATTCGCCCCTCTTGCCTTTCGTTCCTTCCAGAAAAACCTTCCAAATAGGCAGATGTGGTATGGGGTGGCCATGACTGCCTGAGAGTGACTTTGAGTTCACTCACTGTATTTATCTGCCCTTTCATCACTGACTGAAAGATTTTGGTATGAGCTTTCTTGGAAAGCTCTGGTATGAGGTGCTACTTAAGGGACCTCTCTTAGTGCTGGGTTCAAGGCTTTGAGGAAAGTAGAAAGTTGGGGCGCAATATATAAGCGTCGCGGGCAATGCTCAAGGTATAGAATTGTTAACAGTTCACCTAAACTTGTTTATCACCAGTCTTATTACAGTTGGTGTTTAACTCTTAAACTCATTGTTAACTGAAAAGGTAACAGCCTGAGGTATTAGCCTGAGAACAGCCTGAGGCTAGTTCTCAACTTGTTAGAGGCTAACATTATCATTTATGAAAATCGACACTTAGTATT
pathogenic
174,703
Gene mutation in EXT2 (exostosin glycosyltransferase 2) at chromosome 11, position 44109281—is it benign or pathogenic? If pathogenic, specify the disease(s).
pathogenic; ['Exostoses,_multiple,_type_2']
TTTATAAGAAGTGTCCAAAGTCCCTTTTTGTTATTTCACCACACCACTTAAGGGAAAGAAATAGGTACATTAAAAGTAGAGGCTGGGCGCGGTGGCTTATGCCTATGATCCTAGCATTTTGGGAGGCCGAGGCAGGCTGATAGATTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAGACTCCTTCTCTACTAAAAATGCAAAAAATTAGCTGGGCGTGGTGGTCACAGTTACTTGGGAGGCCAAAGTGGGAGGATTGCTTGAGCCTGGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGTGAAACCCTGTCTCAAAACAAAACAAAACAAAAAAAAAGGTTGAATAGTCTTTTCAAGTGTCATTTGCCATCCTAAATACTTGGTTTTTCTTATTTCTCTCCCTGGTGACCAGGAGTGTGAGGAAGAGGCTGTCTGTGTCATTATGTGTGCGTCGGTCAAGTATAATATCCGGGGTCCTGCCCTCATCCCAAGAATGAAGACCAAGCACCGAATCTACTATATCACCCTCTTCTCCATTGTCCTCCTGGGCCTCATTGCCACTGGCATGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAATGACTGGAATGTAGAGAAGCGCAGCATCCGTGATGTGCCGGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGAATGCACACGTGTTTTGATGTCTATCGCTGTGGCTTCAACCCAAAGAACAAAATCAAGGTGTATATCTATGCTCTGAAAAAGTACGTGGATGACTTTGGCGTCTCTGTCAGCAACACCATCTCCCGGGAGTATAATGAACTGCTCATGGCCATCTCAGACAGTGACTACTACACTGATGACATCAACCGGGCCTGTCTGTTTGTTCCCTCCATCGATGTGCTTAACCAGAACACACTGCGCATCAAGGAGACAGCACAAGCGATGGCCCAGCTCTCTAGGTATCTCACACTCATACAGCCCAGCCCCCAGGAGATACTTGAGTGGCCCTCAGGGAACTAAAGGGAAGGGAAGGATGGGAATGCTTCTGCTCTTGAGTTGGTTTCCCGATGCTGTCTTCTTGCAGGACGGGGTGTGTTGGAGGGACTGACTTGCAGCATGAGGCCTGTGTGGCAGCATCTGCCTGTGTGCCCGTGAAGAGTAGTCTGCCATCTCCGGCACTACTGCTGTGGGTTCCCAGCCTCTTAGAGTTTCCAAACTAAGCGTGGCTCTTCTTCATTTATTCTTCCTTTTAAATCTAAATATGCTACCACCTCCTCGTAGCACTTACATAATACACATTCACTGTAAGAAATCTGAAAATACAGGTAAGCAAAAAGAAGAATCTAAGATTCATTCTGAAATCCTTCCTCTAAGAGATAAACATTATTAATATTTTGATGTTACTAAAAATACACATACACATCTGTATATAAATGTTTTGTTCCAAATGGGATCACACAGTACATACTCTTTTGCTTTTTCCCTTAATATATCATGAATATATTTCCAAATTATGACATAATTTTATGTTCTTTTACTATATAACTTTAAGGGTTGCATAGTATTCCATTTTGCAGATGTTCTACCATATATTTAACCAGGCTTCTCTAATGTATTTTGTGTTTCTTTAACCAAATGGTGAACATTTGGGTAGTTTTCAACTTTTCATTATTAGAAGCAGGTCTGTATGGGACAAGCTTGAAGTACACGTGCGTTCATTTTTCCCTGTCATGGAGCCAGACTTGTGTCTGATGTGCTGTTGGGATTTCCAGGAGTTTGCTTTGCATACCTGAGAAGCGGCCCTATTTGGGCTTGGGGATCCTTGATAGTTGTTGTCTAGTAACTGACTCTTGTCTTTTCATAGTTGACACATTAATTCTCCTACATTTTAAATTTCTTGACAGGTGGGATCGAGGTACGAATCACCTGTTGTTCAACATGTTGCCTGGAGGTCCCCCAGATTATAACACAGCCCTGGATGTCCCCAGAGACAGGTAGGAGGCATATTTGGGGCTGTCCTTATGATGGGTTCAAGATCATTTTGTTCATGTGAAATTATATTCCTAAATCTACCACATACTTTGTAATCAGAATTGTTTATTAAACTAGAAAATTGTCATAAGTATTTTCCTCCTGAAGATTTAGAAGTGCTTAAATCTTTTATGGAAAACCAGTTAGGGCTTATGTCCTGGCATAGCCTCTAAAACTGTTTTCCCACTCTGGATTGTGCACTTCTGAGTGTAACACATCCAGCCCCCAAAAGTGTGACAGGCTTGTGCTAGCTCTCTCTGAATTCGGGAGCATTTGCCACAAGTAGATGCACAGCTTACTGAGAGAAGGTAGCGTGGATATGTAAAAGCGATACCCAAAGCCTATAATGTAGAGGGTAATGGGGGCACGCTGATTCTCATTTACTTTCTGTTGTTTCAATCAGTAGGGTTCTTTCTGTCCGTTCCTCCCTCCCTCCCTGCCTGCCTGCCTTCATTATTCGCCCCTCTTGCCTTTCGTTCCTTCCAGAAAAACCTTCCAAATAGGCAGATGTGGTATGGGGTGGCCATGACTGCCTGAGAGTGACTTTGAGTTCACTCACTGTATTTATCTGCCCTTTCATCACTGACTGAAAGATTTTGGTATGAGCTTTCTTGGAAAGCTCTGGTATGAGGTGCTACTTAAGGGACCTCTCTTAGTGCTGGGTTCAAGGCTTTGAGGAAAGTAGAAAGTTGGGGCGCAATATATAAGCGTCGCGGGCAATGCTCAAGGTATAGAATTGTTAACAGTTCACCTAAACTTGTTTATCACCAGTCTTATTACAGTTGGTGTTTAACTCTTAAACTCATTGTTAACTGAAAAGGTAACAGCCTGAGGTATTAGCCTGAGAACAGCCTGAGGCTAGTTCTCAACTTGTTAGAGGCTAACATTATCATTTATGAAAATCGACACTTAGTATTCCTTTTCCCCAGAAGATTAAATCTAAACCTTCTTTGCATTAAGTGATTATCTAAAGTCAGTTTTGAGTTTCTGTCTGGAAATATAATTATAACTACACAAGACAAACACTCCAGGACCACCCTTCAGCTTTGGTGTAGAGACCGTTTTGGACGATAGAGGGCAGTCCGGGTGCACAAATGCTGTAGGAAGTGGCTGAACACAGGGTAATTCCGGATTTGGCTCTCAGCCCCAGAGAAGGTGTGCCTGTTCCTGAGTGGGCTACTGTTTTATGGATTTGGTTGTTCTGGGGAAGTGAAATAACTTTGGAGAACAGAGAAGGGAAGGAAAAGAGCTGTTAGGAATGCAGAGTCTCCATCTCCAGTTCTGGATTTTTTTTCAGAAGGGCTTCTTTCTGTTTGGGTCATTTCACTTTTTGCTGACATTTTGGTATATGCATCTGCATGGGAGTTGGATTTTATTTTTATCAAGTGCACATGTTAAATGCGATTTCATTTGTCTGCAGGAAGGTGTCAAGTAGACAGGAGAAAGTGTGAGTACATGCCAGTGTTTAGGTGTTAGGATCAGGAAGGTTAAATAGTTTTTCCTATGCATGTATTTTTGTAAGTGATTATAGCCAATCCTATAGCAGGTAATGAATCACCATCTAGTCCTTTATCTTTGCATGTGGGAAATTTCATTTTGAAACTTAGGTGGCCTTCTTGTTGGGGTAAGGAATAGTAGATTTGTTTGTTAATTTTTCTTATCCTTCATCCTTGCTCCTGGATTCAAAGGAGGCAAGAACTGTGAATGCAGAATGGTTTTACAGGAGCTGCATGTCAGATTGTTTGGAAATTAGAAAACAGATGGGCTAGATTAGACTGCTTTAAGATCTCCTAAAGTTCAAAAGCATAGGTGTGATTACTTAAAAATTATTTTACTTAAGGAAATACAGTACAAGGACCTGGACTGAAGGGAAATGTCTGCTCAGTGAATTTTTTTTAATGCTGCTTAAATGTTTTTATTTCTCTTTCAATTAAAAAAAAATCCATACACATGATACATATATACTTTGTGCAAGGGTCGAACAGCATGCAAGTGTATAAAGAGTAAA
TTTATAAGAAGTGTCCAAAGTCCCTTTTTGTTATTTCACCACACCACTTAAGGGAAAGAAATAGGTACATTAAAAGTAGAGGCTGGGCGCGGTGGCTTATGCCTATGATCCTAGCATTTTGGGAGGCCGAGGCAGGCTGATAGATTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAGACTCCTTCTCTACTAAAAATGCAAAAAATTAGCTGGGCGTGGTGGTCACAGTTACTTGGGAGGCCAAAGTGGGAGGATTGCTTGAGCCTGGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGTGAAACCCTGTCTCAAAACAAAACAAAACAAAAAAAAAGGTTGAATAGTCTTTTCAAGTGTCATTTGCCATCCTAAATACTTGGTTTTTCTTATTTCTCTCCCTGGTGACCAGGAGTGTGAGGAAGAGGCTGTCTGTGTCATTATGTGTGCGTCGGTCAAGTATAATATCCGGGGTCCTGCCCTCATCCCAAGAATGAAGACCAAGCACCGAATCTACTATATCACCCTCTTCTCCATTGTCCTCCTGGGCCTCATTGCCACTGGCATGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAATGACTGGAATGTAGAGAAGCGCAGCATCCGTGATGTGCCGGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGAATGCACACGTGTTTTGATGTCTATCGCTGTGGCTTCAACCCAAAGAACAAAATCAAGGTGTATATCTATGCTCTGAAAAAGTACGTGGATGACTTTGGCGTCTCTGTCAGCAACACCATCTCCCGGGAGTATAATGAACTGCTCATGGCCATCTCAGACAGTGACTACTACACTGATGACATCAACCGGGCCTGTCTGTTTGTTCCCTCCATCGATGTGCTTAACCAGAACACACTGCGCATCAAGGAGACAGCACAAGCGATGGCCCAGCTCTCTAGGTATCTCACACTCATACAGCCCAGCCCCCAGGAGATACTTGAGTGGCCCTCAGGGAACTAAAGGGAAGGGAAGGATGGGAATGCTTCTGCTCTTGAGTTGGTTTCCCGATGCTGTCTTCTTGCAGGACGGGGTGTGTTGGAGGGACTGACTTGCAGCATGAGGCCTGTGTGGCAGCATCTGCCTGTGTGCCCGTGAAGAGTAGTCTGCCATCTCCGGCACTACTGCTGTGGGTTCCCAGCCTCTTAGAGTTTCCAAACTAAGCGTGGCTCTTCTTCATTTATTCTTCCTTTTAAATCTAAATATGCTACCACCTCCTCGTAGCACTTACATAATACACATTCACTGTAAGAAATCTGAAAATACAGGTAAGCAAAAAGAAGAATCTAAGATTCATTCTGAAATCCTTCCTCTAAGAGATAAACATTATTAATATTTTGATGTTACTAAAAATACACATACACATCTGTATATAAATGTTTTGTTCCAAATGGGATCACACAGTACATACTCTTTTGCTTTTTCCCTTAATATATCATGAATATATTTCCAAATTATGACATAATTTTATGTTCTTTTACTATATAACTTTAAGGGTTGCATAGTATTCCATTTTGCAGATGTTCTACCATATATTTAACCAGGCTTCTCTAATGTATTTTGTGTTTCTTTAACCAAATGGTGAACATTTGGGTAGTTTTCAACTTTTCATTATTAGAAGCAGGTCTGTATGGGACAAGCTTGAAGTACACGTGCGTTCATTTTTCCCTGTCATGGAGCCAGACTTGTGTCTGATGTGCTGTTGGGATTTCCAGGAGTTTGCTTTGCATACCTGAGAAGCGGCCCTATTTGGGCTTGGGGATCCTTGATAGTTGTTGTCTAGTAACTGACTCTTGTCTTTTCATAGTTGACACATTAATTCTCCTACATTTTAAATTTCTTGACAGGTGGGATCGAGGTACGAATCACCTGTTGTTCAACATGTTGCCTGGAGGTCCCCCAGATTATAACACAGCCCTGGATGTCCCCAGAGACAGGAGGCATATTTGGGGCTGTCCTTATGATGGGTTCAAGATCATTTTGTTCATGTGAAATTATATTCCTAAATCTACCACATACTTTGTAATCAGAATTGTTTATTAAACTAGAAAATTGTCATAAGTATTTTCCTCCTGAAGATTTAGAAGTGCTTAAATCTTTTATGGAAAACCAGTTAGGGCTTATGTCCTGGCATAGCCTCTAAAACTGTTTTCCCACTCTGGATTGTGCACTTCTGAGTGTAACACATCCAGCCCCCAAAAGTGTGACAGGCTTGTGCTAGCTCTCTCTGAATTCGGGAGCATTTGCCACAAGTAGATGCACAGCTTACTGAGAGAAGGTAGCGTGGATATGTAAAAGCGATACCCAAAGCCTATAATGTAGAGGGTAATGGGGGCACGCTGATTCTCATTTACTTTCTGTTGTTTCAATCAGTAGGGTTCTTTCTGTCCGTTCCTCCCTCCCTCCCTGCCTGCCTGCCTTCATTATTCGCCCCTCTTGCCTTTCGTTCCTTCCAGAAAAACCTTCCAAATAGGCAGATGTGGTATGGGGTGGCCATGACTGCCTGAGAGTGACTTTGAGTTCACTCACTGTATTTATCTGCCCTTTCATCACTGACTGAAAGATTTTGGTATGAGCTTTCTTGGAAAGCTCTGGTATGAGGTGCTACTTAAGGGACCTCTCTTAGTGCTGGGTTCAAGGCTTTGAGGAAAGTAGAAAGTTGGGGCGCAATATATAAGCGTCGCGGGCAATGCTCAAGGTATAGAATTGTTAACAGTTCACCTAAACTTGTTTATCACCAGTCTTATTACAGTTGGTGTTTAACTCTTAAACTCATTGTTAACTGAAAAGGTAACAGCCTGAGGTATTAGCCTGAGAACAGCCTGAGGCTAGTTCTCAACTTGTTAGAGGCTAACATTATCATTTATGAAAATCGACACTTAGTATTCCTTTTCCCCAGAAGATTAAATCTAAACCTTCTTTGCATTAAGTGATTATCTAAAGTCAGTTTTGAGTTTCTGTCTGGAAATATAATTATAACTACACAAGACAAACACTCCAGGACCACCCTTCAGCTTTGGTGTAGAGACCGTTTTGGACGATAGAGGGCAGTCCGGGTGCACAAATGCTGTAGGAAGTGGCTGAACACAGGGTAATTCCGGATTTGGCTCTCAGCCCCAGAGAAGGTGTGCCTGTTCCTGAGTGGGCTACTGTTTTATGGATTTGGTTGTTCTGGGGAAGTGAAATAACTTTGGAGAACAGAGAAGGGAAGGAAAAGAGCTGTTAGGAATGCAGAGTCTCCATCTCCAGTTCTGGATTTTTTTTCAGAAGGGCTTCTTTCTGTTTGGGTCATTTCACTTTTTGCTGACATTTTGGTATATGCATCTGCATGGGAGTTGGATTTTATTTTTATCAAGTGCACATGTTAAATGCGATTTCATTTGTCTGCAGGAAGGTGTCAAGTAGACAGGAGAAAGTGTGAGTACATGCCAGTGTTTAGGTGTTAGGATCAGGAAGGTTAAATAGTTTTTCCTATGCATGTATTTTTGTAAGTGATTATAGCCAATCCTATAGCAGGTAATGAATCACCATCTAGTCCTTTATCTTTGCATGTGGGAAATTTCATTTTGAAACTTAGGTGGCCTTCTTGTTGGGGTAAGGAATAGTAGATTTGTTTGTTAATTTTTCTTATCCTTCATCCTTGCTCCTGGATTCAAAGGAGGCAAGAACTGTGAATGCAGAATGGTTTTACAGGAGCTGCATGTCAGATTGTTTGGAAATTAGAAAACAGATGGGCTAGATTAGACTGCTTTAAGATCTCCTAAAGTTCAAAAGCATAGGTGTGATTACTTAAAAATTATTTTACTTAAGGAAATACAGTACAAGGACCTGGACTGAAGGGAAATGTCTGCTCAGTGAATTTTTTTTAATGCTGCTTAAATGTTTTTATTTCTCTTTCAATTAAAAAAAAATCCATACACATGATACATATATACTTTGTGCAAGGGTCGAACAGCATGCAAGTGTATAAAGAGTAAANNNN
pathogenic
174,712
Evaluate this variant at chromosome 11, position 44124829, gene EXT2 (exostosin glycosyltransferase 2): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Exostoses,_multiple,_type_2']
GCAGTAAGGACGTGGTCAACGTTTGTGCTGTCAGGCAGCCCCAGCCACATATGGCTATTTGAGCACTGGAAATGGGCCTAGTGTGACTGACAAACTGAACTTTTAATTTTATTTACTTTTAATTAGTTTAATTTAAATGGCCTCACGTGGCTAGTTGCTATTAGTGAAGTTCTAGGGAGTCTGCTGGTTCCTTTTTTTCTTAATTGTGATGTGTTAAGTGCCTTTTGCTCTTAGTTAGGCCAAAACCAGAATTGATCCTGAGGACGTAAAAGCAGTCTGGCTGTGGTATAGGTTGCTCTTTTCTCTGGGTTTGTATGACTAGTCTAGCTGGCTAGGCAGGTGTTCACCTTCACTCATTGCTTTATGTGATTTGGACCTGAAGCTTAATCCTCTATAAAAGGAGATGACCTTCTCAGTTAGAGTATAATTATTGAGTGAGATGCTCCCCGGCTAGAACTTCCAAACAAGTCTGAGTAACTAAGGAAAAGTAACAATTACCATTCTCTCTTCAAAGCCAAAAACAAACAAACAAAAAATGGATGGGTTCACAAACTCTAGGTTGCGTGGTGGCGTTGCCTGTGAGAGATACGTAGCCCTAGTATTTTCCCTGGGCTGTACCAGTTTGAGCTGGATTTCAGTGTGTGCTGCTTCTAGGCTTAATGAGTGTTTCATTTCTTCCTGGAACATGCTTTCTGTGATTCTTCTCTTTGACACTGATTCCTTGTGGTCCCTCAGCCTAAACAGGTTGAGTATCCCTTATCCAAAATGCTCAGGACCAGAAGTGTTTTGGACTCCTGATTTTTTCAGATTTTGGAGTATTTGCGTTATACTCTTGGTTGAGCATTCCAAATCCAGAAATCTAAAATATTTCAATGAGCATTTCTTTTGAGCATCATGTTGGCATCCAGAAAGCTTTGGATTTTGGAGCATTTTGGACTTCAGATTTTCAGATTTGATATGCTCAACCTGTATAGGTTTTATGTTCTGTACCCTCTCTGTCTTGTTTGAGTCTTGTCTTCCAGGAGGGAATTACTTCCCATCTGGTCTCTCCAAAATCTTCCCCTTGACTTCAGACTTACTAACTTTGTGTTTCCATATCTGTCTCTTGTGGAGATCTGCATGGCACTAGACCCTTGGAGATCTTTCTTCCCTCTGTCTTGTTTGAGTCTTGTCTTCCAGGAGGGAATTACTTCCCATCTGGTCTCTCCAAAATCTTCCCCTTGACTTCAGACTTACTAACTTTGTGTTTCCATATCTGTCTCTTGTGGAGATCTGCATGGCACTAGACCCTTGGAGATCTTTCTTCCCTCTGTTTTCTTTTACACATCCTTGCCATCCAGATGTTAAGACTGGAGATTCTATGCTTTGATGAAGATCGTTTTTTCTACTTCTTGTTTTCAACTACCAATTCGGTCTCCCTCCCATTTATGTGGCCTTGATGATGGGGACTTTCCCTATAGCCTCTCCATTGCACAGGGATGCTGTTAGACAGCCAGGAGCAGCCCTTTCCAGAGCCCTTCAGTTGCCTGCCAGTGCTTCCCATCAAGCTTCCCTCTTTCCCCATTTGAAGAATGCAGCCAGCTTCCAGTCGCTTTCAGATCAGGGACTCAGATGTAACTAAGACAACACTTCGATGTTCCTTCCAAATTATCAGTTTCTCTCCTACACACACACACACACACACACACACACACACACACACAATTTATAGCATGCGCTCTCAGCTTAGCATATTATAAGCATTTCCTCACGATATCAAGAACTGTTCCCAAATAAGATGTGTTATGATTGCATAATATTTCAGTGTGTGAATGAATCATATCTTACTTTCTCACAATATATAATATTTTAAATATTTACTAATACTACAGAAGATAATTTTAAAAATCAGTGGAGGTGAAGACTGGTAAGGAAACACTTACTGTCATAAGTTTAATATCAAAGTTTGTCTTACCTTGACTAACATACCAGCTGCAATTTTCCAATCACCTGTTTTTTTCCCTTGTAGTCCACGGCAATACTTCCTCCTGTCATCTCAGGTGGGTCTCCATCCTGAGTACAGAGAGGACCTAGAAGCCCTCCAGGTCAAACATGGAGAGTCAGTGTTAGTACTCGATAAATGCACCAACCTCTCAGAGGGTGTCCTTTCTGTCCGTAAGCGCTGCCACAAGCACCAGGTCTTCGATTACCCACAGGTGCTACAGGTGAGTGTCATTCATTACCTCTCGCAAAGGCTCAGGAGAGTTTGCTTACATGGGTTAAAATTGAGCCCAGCGAACCTGAGTTGTTTTCAGCATGCAACTAGAATTACCCAAGGGGAAGAAAACATAGCATTGCTCTTTACTGGACATGTAGACCTTCAGGTACTTGGATGTCTGGTGTCTTGTGTTCGTGCAAAGCTGCTTGGCCTATGAGAGTCTATACTCCTTTCAGATATTCATTATACTTCAAAAAGACAAGTCTCATAGATTCGCAGACAAGCCACATGGACAAAGCAGGCAAATGTATCTTGCTTTTACCCCCATATTCATAAGGCAGTCCAGAGAAATTTTCTTCTTTGAGGTGGCAACTTGCATCCCTTGACCATGCTGGCCTACAGAGCCACAGTGAACTTTCCCTGGGAGTGGAGGGGTTTAGGGGTTGTTTTGATTGTTTTGCTATTTGGAGTTCTTGCCACCTTTAGCATCTCCTGTCAGTAGCATGTCCTTTATTTACATAGTGGGAATGGCTGTACTTCCATAACCATAGGGAAAGCGGTCTCTTTGGGGATGTTTTATATGTAGGATATTTGACATTCCAAGGGTATGGGGGCTAGGAAATGAGAAATTGAGCTTTGTTCACTTAAATACTTAAAATGGACACAGGTTAGCTCAAGGAGAAACACAAAGGAGCTGGTGTGATTTTTTTTTTTTTAATCTCCAGAGAGCTTGCCCATACTGGGATTGTAAAAATACATTCAAAAAGTGCTGCACTCCTCCTGGAATGTCTGGCTGGTAACAGTGGTGATGAGGGCAGGAGTATTTATAGTAACCTTTGTCTAGACAGGAAAAATGGTTATCAGCACGTGTGTCCACATCTGGATGCTGACTCTTGAGGTCAGGGGAGCTTTCCACCTGCACCTCCGGGTACCACGATGACTTCTCTTCCTCTCCTCTTGCTGCTTTTCTCATTTATCCCCAGAGGTGTTTGGAATATCGAATTCCTTTATTTCTTTTTCTGAACTTTCCTTTTCTCTAGCTTTAAAGATTAGTTTTTGGTTTTTTTAAAAAATCTTTTTCCTCCTTCTTAAGAGGCAAAATCTGGGAGAAACAGAATGTTAGGTAGTTAAGGTTTCTGTATTTTGGTTTACCTATTGCAGCTGTTTTTTCTGTGGTACATCTCTCCTTTTCCCAAGTATTCCCCACATTGAGGGGGTTTGAGGGAGTGAATGAGGAAGAAATTTTTCATTAGATTTTTTTTATAGAACATATTAGTCTTAATATCTTTTCAAAGGCATTGAATTCATGAAATGAGTATCTTCTATATAAAAAGCACACTGTTAGATGCTATGGGGGGTAGAAACATGAAAAGAGATTTGATACCTTCCCTTTAGGGGGTCTTGTAGAAAGCCTGAAATTCCCAGACAAAATAATTCCATTACAAGGTAGGCTGAGGTAAGTACTGTAAGAGATGTCAGACAGTGTGCCGTGGTGTGTTTACATAGTACACTAGGGCCTAAAGAGACCCATTTGCAGGAAGTCACGTTGTTAGCTGTCTAAGGGAAGACTTTGACATTGACCTTGAACATTTTCAGAAGGCCAACAGTGGTGGCATTGAAGCAATACTGAAGAGTAGAAATATTAATACAAAACATTGCAGCCATTTAAACTTTTCAAGTTTTACAGGTGTGAGCTGTTGTCTTTTGGCATTTTTGTGTCAAGATGCCTCAGTATTGCTTGGCGTCAACCCTTGTAGAAACTTTGTGGTCTGTAGGGATCAAAGTTAGTGGATCAGCAAAACTAGTTTGTAATCTCTTGCCTCTTTGTGTTCCTGCAGGAGGCTACTTTCTGTGTGGTTCTTCGTGGAGCTCGGCTGGGCCAGGCAGTATTGAGCGATG
GCAGTAAGGACGTGGTCAACGTTTGTGCTGTCAGGCAGCCCCAGCCACATATGGCTATTTGAGCACTGGAAATGGGCCTAGTGTGACTGACAAACTGAACTTTTAATTTTATTTACTTTTAATTAGTTTAATTTAAATGGCCTCACGTGGCTAGTTGCTATTAGTGAAGTTCTAGGGAGTCTGCTGGTTCCTTTTTTTCTTAATTGTGATGTGTTAAGTGCCTTTTGCTCTTAGTTAGGCCAAAACCAGAATTGATCCTGAGGACGTAAAAGCAGTCTGGCTGTGGTATAGGTTGCTCTTTTCTCTGGGTTTGTATGACTAGTCTAGCTGGCTAGGCAGGTGTTCACCTTCACTCATTGCTTTATGTGATTTGGACCTGAAGCTTAATCCTCTATAAAAGGAGATGACCTTCTCAGTTAGAGTATAATTATTGAGTGAGATGCTCCCCGGCTAGAACTTCCAAACAAGTCTGAGTAACTAAGGAAAAGTAACAATTACCATTCTCTCTTCAAAGCCAAAAACAAACAAACAAAAAATGGATGGGTTCACAAACTCTAGGTTGCGTGGTGGCGTTGCCTGTGAGAGATACGTAGCCCTAGTATTTTCCCTGGGCTGTACCAGTTTGAGCTGGATTTCAGTGTGTGCTGCTTCTAGGCTTAATGAGTGTTTCATTTCTTCCTGGAACATGCTTTCTGTGATTCTTCTCTTTGACACTGATTCCTTGTGGTCCCTCAGCCTAAACAGGTTGAGTATCCCTTATCCAAAATGCTCAGGACCAGAAGTGTTTTGGACTCCTGATTTTTTCAGATTTTGGAGTATTTGCGTTATACTCTTGGTTGAGCATTCCAAATCCAGAAATCTAAAATATTTCAATGAGCATTTCTTTTGAGCATCATGTTGGCATCCAGAAAGCTTTGGATTTTGGAGCATTTTGGACTTCAGATTTTCAGATTTGATATGCTCAACCTGTATAGGTTTTATGTTCTGTACCCTCTCTGTCTTGTTTGAGTCTTGTCTTCCAGGAGGGAATTACTTCCCATCTGGTCTCTCCAAAATCTTCCCCTTGACTTCAGACTTACTAACTTTGTGTTTCCATATCTGTCTCTTGTGGAGATCTGCATGGCACTAGACCCTTGGAGATCTTTCTTCCCTCTGTCTTGTTTGAGTCTTGTCTTCCAGGAGGGAATTACTTCCCATCTGGTCTCTCCAAAATCTTCCCCTTGACTTCAGACTTACTAACTTTGTGTTTCCATATCTGTCTCTTGTGGAGATCTGCATGGCACTAGACCCTTGGAGATCTTTCTTCCCTCTGTTTTCTTTTACACATCCTTGCCATCCAGATGTTAAGACTGGAGATTCTATGCTTTGATGAAGATCGTTTTTTCTACTTCTTGTTTTCAACTACCAATTCGGTCTCCCTCCCATTTATGTGGCCTTGATGATGGGGACTTTCCCTATAGCCTCTCCATTGCACAGGGATGCTGTTAGACAGCCAGGAGCAGCCCTTTCCAGAGCCCTTCAGTTGCCTGCCAGTGCTTCCCATCAAGCTTCCCTCTTTCCCCATTTGAAGAATGCAGCCAGCTTCCAGTCGCTTTCAGATCAGGGACTCAGATGTAACTAAGACAACACTTCGATGTTCCTTCCAAATTATCAGTTTCTCTCCTACACACACACACACACACACACACACACACACACACACAATTTATAGCATGCGCTCTCAGCTTAGCATATTATAAGCATTTCCTCACGATATCAAGAACTGTTCCCAAATAAGATGTGTTATGATTGCATAATATTTCAGTGTGTGAATGAATCATATCTTACTTTCTCACAATATATAATATTTTAAATATTTACTAATACTACAGAAGATAATTTTAAAAATCAGTGGAGGTGAAGACTGGTAAGGAAACACTTACTGTCATAAGTTTAATATCAAAGTTTGTCTTACCTTGACTAACATACCAGCTGCAATTTTCCAATCACCTGTTTTTTTCCCTTGTAGTCCACGGCAATACTTCCTCCTGTCATCTCAGGTGGGTCTCCAATCCTGAGTACAGAGAGGACCTAGAAGCCCTCCAGGTCAAACATGGAGAGTCAGTGTTAGTACTCGATAAATGCACCAACCTCTCAGAGGGTGTCCTTTCTGTCCGTAAGCGCTGCCACAAGCACCAGGTCTTCGATTACCCACAGGTGCTACAGGTGAGTGTCATTCATTACCTCTCGCAAAGGCTCAGGAGAGTTTGCTTACATGGGTTAAAATTGAGCCCAGCGAACCTGAGTTGTTTTCAGCATGCAACTAGAATTACCCAAGGGGAAGAAAACATAGCATTGCTCTTTACTGGACATGTAGACCTTCAGGTACTTGGATGTCTGGTGTCTTGTGTTCGTGCAAAGCTGCTTGGCCTATGAGAGTCTATACTCCTTTCAGATATTCATTATACTTCAAAAAGACAAGTCTCATAGATTCGCAGACAAGCCACATGGACAAAGCAGGCAAATGTATCTTGCTTTTACCCCCATATTCATAAGGCAGTCCAGAGAAATTTTCTTCTTTGAGGTGGCAACTTGCATCCCTTGACCATGCTGGCCTACAGAGCCACAGTGAACTTTCCCTGGGAGTGGAGGGGTTTAGGGGTTGTTTTGATTGTTTTGCTATTTGGAGTTCTTGCCACCTTTAGCATCTCCTGTCAGTAGCATGTCCTTTATTTACATAGTGGGAATGGCTGTACTTCCATAACCATAGGGAAAGCGGTCTCTTTGGGGATGTTTTATATGTAGGATATTTGACATTCCAAGGGTATGGGGGCTAGGAAATGAGAAATTGAGCTTTGTTCACTTAAATACTTAAAATGGACACAGGTTAGCTCAAGGAGAAACACAAAGGAGCTGGTGTGATTTTTTTTTTTTTAATCTCCAGAGAGCTTGCCCATACTGGGATTGTAAAAATACATTCAAAAAGTGCTGCACTCCTCCTGGAATGTCTGGCTGGTAACAGTGGTGATGAGGGCAGGAGTATTTATAGTAACCTTTGTCTAGACAGGAAAAATGGTTATCAGCACGTGTGTCCACATCTGGATGCTGACTCTTGAGGTCAGGGGAGCTTTCCACCTGCACCTCCGGGTACCACGATGACTTCTCTTCCTCTCCTCTTGCTGCTTTTCTCATTTATCCCCAGAGGTGTTTGGAATATCGAATTCCTTTATTTCTTTTTCTGAACTTTCCTTTTCTCTAGCTTTAAAGATTAGTTTTTGGTTTTTTTAAAAAATCTTTTTCCTCCTTCTTAAGAGGCAAAATCTGGGAGAAACAGAATGTTAGGTAGTTAAGGTTTCTGTATTTTGGTTTACCTATTGCAGCTGTTTTTTCTGTGGTACATCTCTCCTTTTCCCAAGTATTCCCCACATTGAGGGGGTTTGAGGGAGTGAATGAGGAAGAAATTTTTCATTAGATTTTTTTTATAGAACATATTAGTCTTAATATCTTTTCAAAGGCATTGAATTCATGAAATGAGTATCTTCTATATAAAAAGCACACTGTTAGATGCTATGGGGGGTAGAAACATGAAAAGAGATTTGATACCTTCCCTTTAGGGGGTCTTGTAGAAAGCCTGAAATTCCCAGACAAAATAATTCCATTACAAGGTAGGCTGAGGTAAGTACTGTAAGAGATGTCAGACAGTGTGCCGTGGTGTGTTTACATAGTACACTAGGGCCTAAAGAGACCCATTTGCAGGAAGTCACGTTGTTAGCTGTCTAAGGGAAGACTTTGACATTGACCTTGAACATTTTCAGAAGGCCAACAGTGGTGGCATTGAAGCAATACTGAAGAGTAGAAATATTAATACAAAACATTGCAGCCATTTAAACTTTTCAAGTTTTACAGGTGTGAGCTGTTGTCTTTTGGCATTTTTGTGTCAAGATGCCTCAGTATTGCTTGGCGTCAACCCTTGTAGAAACTTTGTGGTCTGTAGGGATCAAAGTTAGTGGATCAGCAAAACTAGTTTGTAATCTCTTGCCTCTTTGTGTTCCTGCAGGAGGCTACTTTCTGTGTGGTTCTTCGTGGAGCTCGGCTGGGCCAGGCAGTATTGAGCGAT
pathogenic
174,725
Clinically, how would you classify the variant at chromosome 11, position 44124950, gene EXT2 (exostosin glycosyltransferase 2): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Exostoses,_multiple,_type_2', 'Seizures-scoliosis-macrocephaly_syndrome']
ATTAGTTTAATTTAAATGGCCTCACGTGGCTAGTTGCTATTAGTGAAGTTCTAGGGAGTCTGCTGGTTCCTTTTTTTCTTAATTGTGATGTGTTAAGTGCCTTTTGCTCTTAGTTAGGCCAAAACCAGAATTGATCCTGAGGACGTAAAAGCAGTCTGGCTGTGGTATAGGTTGCTCTTTTCTCTGGGTTTGTATGACTAGTCTAGCTGGCTAGGCAGGTGTTCACCTTCACTCATTGCTTTATGTGATTTGGACCTGAAGCTTAATCCTCTATAAAAGGAGATGACCTTCTCAGTTAGAGTATAATTATTGAGTGAGATGCTCCCCGGCTAGAACTTCCAAACAAGTCTGAGTAACTAAGGAAAAGTAACAATTACCATTCTCTCTTCAAAGCCAAAAACAAACAAACAAAAAATGGATGGGTTCACAAACTCTAGGTTGCGTGGTGGCGTTGCCTGTGAGAGATACGTAGCCCTAGTATTTTCCCTGGGCTGTACCAGTTTGAGCTGGATTTCAGTGTGTGCTGCTTCTAGGCTTAATGAGTGTTTCATTTCTTCCTGGAACATGCTTTCTGTGATTCTTCTCTTTGACACTGATTCCTTGTGGTCCCTCAGCCTAAACAGGTTGAGTATCCCTTATCCAAAATGCTCAGGACCAGAAGTGTTTTGGACTCCTGATTTTTTCAGATTTTGGAGTATTTGCGTTATACTCTTGGTTGAGCATTCCAAATCCAGAAATCTAAAATATTTCAATGAGCATTTCTTTTGAGCATCATGTTGGCATCCAGAAAGCTTTGGATTTTGGAGCATTTTGGACTTCAGATTTTCAGATTTGATATGCTCAACCTGTATAGGTTTTATGTTCTGTACCCTCTCTGTCTTGTTTGAGTCTTGTCTTCCAGGAGGGAATTACTTCCCATCTGGTCTCTCCAAAATCTTCCCCTTGACTTCAGACTTACTAACTTTGTGTTTCCATATCTGTCTCTTGTGGAGATCTGCATGGCACTAGACCCTTGGAGATCTTTCTTCCCTCTGTCTTGTTTGAGTCTTGTCTTCCAGGAGGGAATTACTTCCCATCTGGTCTCTCCAAAATCTTCCCCTTGACTTCAGACTTACTAACTTTGTGTTTCCATATCTGTCTCTTGTGGAGATCTGCATGGCACTAGACCCTTGGAGATCTTTCTTCCCTCTGTTTTCTTTTACACATCCTTGCCATCCAGATGTTAAGACTGGAGATTCTATGCTTTGATGAAGATCGTTTTTTCTACTTCTTGTTTTCAACTACCAATTCGGTCTCCCTCCCATTTATGTGGCCTTGATGATGGGGACTTTCCCTATAGCCTCTCCATTGCACAGGGATGCTGTTAGACAGCCAGGAGCAGCCCTTTCCAGAGCCCTTCAGTTGCCTGCCAGTGCTTCCCATCAAGCTTCCCTCTTTCCCCATTTGAAGAATGCAGCCAGCTTCCAGTCGCTTTCAGATCAGGGACTCAGATGTAACTAAGACAACACTTCGATGTTCCTTCCAAATTATCAGTTTCTCTCCTACACACACACACACACACACACACACACACACACACACAATTTATAGCATGCGCTCTCAGCTTAGCATATTATAAGCATTTCCTCACGATATCAAGAACTGTTCCCAAATAAGATGTGTTATGATTGCATAATATTTCAGTGTGTGAATGAATCATATCTTACTTTCTCACAATATATAATATTTTAAATATTTACTAATACTACAGAAGATAATTTTAAAAATCAGTGGAGGTGAAGACTGGTAAGGAAACACTTACTGTCATAAGTTTAATATCAAAGTTTGTCTTACCTTGACTAACATACCAGCTGCAATTTTCCAATCACCTGTTTTTTTCCCTTGTAGTCCACGGCAATACTTCCTCCTGTCATCTCAGGTGGGTCTCCATCCTGAGTACAGAGAGGACCTAGAAGCCCTCCAGGTCAAACATGGAGAGTCAGTGTTAGTACTCGATAAATGCACCAACCTCTCAGAGGGTGTCCTTTCTGTCCGTAAGCGCTGCCACAAGCACCAGGTCTTCGATTACCCACAGGTGCTACAGGTGAGTGTCATTCATTACCTCTCGCAAAGGCTCAGGAGAGTTTGCTTACATGGGTTAAAATTGAGCCCAGCGAACCTGAGTTGTTTTCAGCATGCAACTAGAATTACCCAAGGGGAAGAAAACATAGCATTGCTCTTTACTGGACATGTAGACCTTCAGGTACTTGGATGTCTGGTGTCTTGTGTTCGTGCAAAGCTGCTTGGCCTATGAGAGTCTATACTCCTTTCAGATATTCATTATACTTCAAAAAGACAAGTCTCATAGATTCGCAGACAAGCCACATGGACAAAGCAGGCAAATGTATCTTGCTTTTACCCCCATATTCATAAGGCAGTCCAGAGAAATTTTCTTCTTTGAGGTGGCAACTTGCATCCCTTGACCATGCTGGCCTACAGAGCCACAGTGAACTTTCCCTGGGAGTGGAGGGGTTTAGGGGTTGTTTTGATTGTTTTGCTATTTGGAGTTCTTGCCACCTTTAGCATCTCCTGTCAGTAGCATGTCCTTTATTTACATAGTGGGAATGGCTGTACTTCCATAACCATAGGGAAAGCGGTCTCTTTGGGGATGTTTTATATGTAGGATATTTGACATTCCAAGGGTATGGGGGCTAGGAAATGAGAAATTGAGCTTTGTTCACTTAAATACTTAAAATGGACACAGGTTAGCTCAAGGAGAAACACAAAGGAGCTGGTGTGATTTTTTTTTTTTTAATCTCCAGAGAGCTTGCCCATACTGGGATTGTAAAAATACATTCAAAAAGTGCTGCACTCCTCCTGGAATGTCTGGCTGGTAACAGTGGTGATGAGGGCAGGAGTATTTATAGTAACCTTTGTCTAGACAGGAAAAATGGTTATCAGCACGTGTGTCCACATCTGGATGCTGACTCTTGAGGTCAGGGGAGCTTTCCACCTGCACCTCCGGGTACCACGATGACTTCTCTTCCTCTCCTCTTGCTGCTTTTCTCATTTATCCCCAGAGGTGTTTGGAATATCGAATTCCTTTATTTCTTTTTCTGAACTTTCCTTTTCTCTAGCTTTAAAGATTAGTTTTTGGTTTTTTTAAAAAATCTTTTTCCTCCTTCTTAAGAGGCAAAATCTGGGAGAAACAGAATGTTAGGTAGTTAAGGTTTCTGTATTTTGGTTTACCTATTGCAGCTGTTTTTTCTGTGGTACATCTCTCCTTTTCCCAAGTATTCCCCACATTGAGGGGGTTTGAGGGAGTGAATGAGGAAGAAATTTTTCATTAGATTTTTTTTATAGAACATATTAGTCTTAATATCTTTTCAAAGGCATTGAATTCATGAAATGAGTATCTTCTATATAAAAAGCACACTGTTAGATGCTATGGGGGGTAGAAACATGAAAAGAGATTTGATACCTTCCCTTTAGGGGGTCTTGTAGAAAGCCTGAAATTCCCAGACAAAATAATTCCATTACAAGGTAGGCTGAGGTAAGTACTGTAAGAGATGTCAGACAGTGTGCCGTGGTGTGTTTACATAGTACACTAGGGCCTAAAGAGACCCATTTGCAGGAAGTCACGTTGTTAGCTGTCTAAGGGAAGACTTTGACATTGACCTTGAACATTTTCAGAAGGCCAACAGTGGTGGCATTGAAGCAATACTGAAGAGTAGAAATATTAATACAAAACATTGCAGCCATTTAAACTTTTCAAGTTTTACAGGTGTGAGCTGTTGTCTTTTGGCATTTTTGTGTCAAGATGCCTCAGTATTGCTTGGCGTCAACCCTTGTAGAAACTTTGTGGTCTGTAGGGATCAAAGTTAGTGGATCAGCAAAACTAGTTTGTAATCTCTTGCCTCTTTGTGTTCCTGCAGGAGGCTACTTTCTGTGTGGTTCTTCGTGGAGCTCGGCTGGGCCAGGCAGTATTGAGCGATGTGTTACAAGCTGGCTGTGTCCCGGTTGTCATTGCAGACTCCTATATTTTGCCTTTCTCTGAAGTTCTTGACTGGAAGAGGTGGGTAGTACCTCCTAGTAAACTCTACATTAGTGGTTCTGC
ATTAGTTTAATTTAAATGGCCTCACGTGGCTAGTTGCTATTAGTGAAGTTCTAGGGAGTCTGCTGGTTCCTTTTTTTCTTAATTGTGATGTGTTAAGTGCCTTTTGCTCTTAGTTAGGCCAAAACCAGAATTGATCCTGAGGACGTAAAAGCAGTCTGGCTGTGGTATAGGTTGCTCTTTTCTCTGGGTTTGTATGACTAGTCTAGCTGGCTAGGCAGGTGTTCACCTTCACTCATTGCTTTATGTGATTTGGACCTGAAGCTTAATCCTCTATAAAAGGAGATGACCTTCTCAGTTAGAGTATAATTATTGAGTGAGATGCTCCCCGGCTAGAACTTCCAAACAAGTCTGAGTAACTAAGGAAAAGTAACAATTACCATTCTCTCTTCAAAGCCAAAAACAAACAAACAAAAAATGGATGGGTTCACAAACTCTAGGTTGCGTGGTGGCGTTGCCTGTGAGAGATACGTAGCCCTAGTATTTTCCCTGGGCTGTACCAGTTTGAGCTGGATTTCAGTGTGTGCTGCTTCTAGGCTTAATGAGTGTTTCATTTCTTCCTGGAACATGCTTTCTGTGATTCTTCTCTTTGACACTGATTCCTTGTGGTCCCTCAGCCTAAACAGGTTGAGTATCCCTTATCCAAAATGCTCAGGACCAGAAGTGTTTTGGACTCCTGATTTTTTCAGATTTTGGAGTATTTGCGTTATACTCTTGGTTGAGCATTCCAAATCCAGAAATCTAAAATATTTCAATGAGCATTTCTTTTGAGCATCATGTTGGCATCCAGAAAGCTTTGGATTTTGGAGCATTTTGGACTTCAGATTTTCAGATTTGATATGCTCAACCTGTATAGGTTTTATGTTCTGTACCCTCTCTGTCTTGTTTGAGTCTTGTCTTCCAGGAGGGAATTACTTCCCATCTGGTCTCTCCAAAATCTTCCCCTTGACTTCAGACTTACTAACTTTGTGTTTCCATATCTGTCTCTTGTGGAGATCTGCATGGCACTAGACCCTTGGAGATCTTTCTTCCCTCTGTCTTGTTTGAGTCTTGTCTTCCAGGAGGGAATTACTTCCCATCTGGTCTCTCCAAAATCTTCCCCTTGACTTCAGACTTACTAACTTTGTGTTTCCATATCTGTCTCTTGTGGAGATCTGCATGGCACTAGACCCTTGGAGATCTTTCTTCCCTCTGTTTTCTTTTACACATCCTTGCCATCCAGATGTTAAGACTGGAGATTCTATGCTTTGATGAAGATCGTTTTTTCTACTTCTTGTTTTCAACTACCAATTCGGTCTCCCTCCCATTTATGTGGCCTTGATGATGGGGACTTTCCCTATAGCCTCTCCATTGCACAGGGATGCTGTTAGACAGCCAGGAGCAGCCCTTTCCAGAGCCCTTCAGTTGCCTGCCAGTGCTTCCCATCAAGCTTCCCTCTTTCCCCATTTGAAGAATGCAGCCAGCTTCCAGTCGCTTTCAGATCAGGGACTCAGATGTAACTAAGACAACACTTCGATGTTCCTTCCAAATTATCAGTTTCTCTCCTACACACACACACACACACACACACACACACACACACACAATTTATAGCATGCGCTCTCAGCTTAGCATATTATAAGCATTTCCTCACGATATCAAGAACTGTTCCCAAATAAGATGTGTTATGATTGCATAATATTTCAGTGTGTGAATGAATCATATCTTACTTTCTCACAATATATAATATTTTAAATATTTACTAATACTACAGAAGATAATTTTAAAAATCAGTGGAGGTGAAGACTGGTAAGGAAACACTTACTGTCATAAGTTTAATATCAAAGTTTGTCTTACCTTGACTAACATACCAGCTGCAATTTTCCAATCACCTGTTTTTTTCCCTTGTAGTCCACGGCAATACTTCCTCCTGTCATCTCAGGTGGGTCTCCATCCTGAGTACAGAGAGGACCTAGAAGCCCTCCAGGTCAAACATGGAGAGTCAGTGTTAGTACTCGATAAATGCACCAACCTCTCAGAGGGTGTCCTTTCTGTCCGTAAGCGCTGCCACAAGCGCACCAGGTCTTCGATTACCCACAGGTGCTACAGGTGAGTGTCATTCATTACCTCTCGCAAAGGCTCAGGAGAGTTTGCTTACATGGGTTAAAATTGAGCCCAGCGAACCTGAGTTGTTTTCAGCATGCAACTAGAATTACCCAAGGGGAAGAAAACATAGCATTGCTCTTTACTGGACATGTAGACCTTCAGGTACTTGGATGTCTGGTGTCTTGTGTTCGTGCAAAGCTGCTTGGCCTATGAGAGTCTATACTCCTTTCAGATATTCATTATACTTCAAAAAGACAAGTCTCATAGATTCGCAGACAAGCCACATGGACAAAGCAGGCAAATGTATCTTGCTTTTACCCCCATATTCATAAGGCAGTCCAGAGAAATTTTCTTCTTTGAGGTGGCAACTTGCATCCCTTGACCATGCTGGCCTACAGAGCCACAGTGAACTTTCCCTGGGAGTGGAGGGGTTTAGGGGTTGTTTTGATTGTTTTGCTATTTGGAGTTCTTGCCACCTTTAGCATCTCCTGTCAGTAGCATGTCCTTTATTTACATAGTGGGAATGGCTGTACTTCCATAACCATAGGGAAAGCGGTCTCTTTGGGGATGTTTTATATGTAGGATATTTGACATTCCAAGGGTATGGGGGCTAGGAAATGAGAAATTGAGCTTTGTTCACTTAAATACTTAAAATGGACACAGGTTAGCTCAAGGAGAAACACAAAGGAGCTGGTGTGATTTTTTTTTTTTTAATCTCCAGAGAGCTTGCCCATACTGGGATTGTAAAAATACATTCAAAAAGTGCTGCACTCCTCCTGGAATGTCTGGCTGGTAACAGTGGTGATGAGGGCAGGAGTATTTATAGTAACCTTTGTCTAGACAGGAAAAATGGTTATCAGCACGTGTGTCCACATCTGGATGCTGACTCTTGAGGTCAGGGGAGCTTTCCACCTGCACCTCCGGGTACCACGATGACTTCTCTTCCTCTCCTCTTGCTGCTTTTCTCATTTATCCCCAGAGGTGTTTGGAATATCGAATTCCTTTATTTCTTTTTCTGAACTTTCCTTTTCTCTAGCTTTAAAGATTAGTTTTTGGTTTTTTTAAAAAATCTTTTTCCTCCTTCTTAAGAGGCAAAATCTGGGAGAAACAGAATGTTAGGTAGTTAAGGTTTCTGTATTTTGGTTTACCTATTGCAGCTGTTTTTTCTGTGGTACATCTCTCCTTTTCCCAAGTATTCCCCACATTGAGGGGGTTTGAGGGAGTGAATGAGGAAGAAATTTTTCATTAGATTTTTTTTATAGAACATATTAGTCTTAATATCTTTTCAAAGGCATTGAATTCATGAAATGAGTATCTTCTATATAAAAAGCACACTGTTAGATGCTATGGGGGGTAGAAACATGAAAAGAGATTTGATACCTTCCCTTTAGGGGGTCTTGTAGAAAGCCTGAAATTCCCAGACAAAATAATTCCATTACAAGGTAGGCTGAGGTAAGTACTGTAAGAGATGTCAGACAGTGTGCCGTGGTGTGTTTACATAGTACACTAGGGCCTAAAGAGACCCATTTGCAGGAAGTCACGTTGTTAGCTGTCTAAGGGAAGACTTTGACATTGACCTTGAACATTTTCAGAAGGCCAACAGTGGTGGCATTGAAGCAATACTGAAGAGTAGAAATATTAATACAAAACATTGCAGCCATTTAAACTTTTCAAGTTTTACAGGTGTGAGCTGTTGTCTTTTGGCATTTTTGTGTCAAGATGCCTCAGTATTGCTTGGCGTCAACCCTTGTAGAAACTTTGTGGTCTGTAGGGATCAAAGTTAGTGGATCAGCAAAACTAGTTTGTAATCTCTTGCCTCTTTGTGTTCCTGCAGGAGGCTACTTTCTGTGTGGTTCTTCGTGGAGCTCGGCTGGGCCAGGCAGTATTGAGCGATGTGTTACAAGCTGGCTGTGTCCCGGTTGTCATTGCAGACTCCTATATTTTGCCTTTCTCTGAAGTTCTTGACTGGAAGAGGTGGGTAGTACCTCCTAGTAAACTCTACATTAGTGGTTCT
pathogenic
174,733
Clinically, how would you classify the variant at chromosome 11, position 44171696, gene EXT2 (exostosin glycosyltransferase 2): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Exostoses,_multiple,_type_2']
AATATATTAAAACCCAGTAACAGATTGATTATCCCTTATCCAAAATGCTTGGGAGCAGAAGTATTTCAGATTTCAGATTTTTTTTTAGATTTTAGGGAATCTGAAATGCTCCAATGAGTATTTCCTTTGAGCATCATGTCAGCACTCAAAAAGTTTTGGATTTTGGAGCATTTTAGCTTTGATTTTTTGGATTTAGGATGCTCAACCTGTATATGCTTTTCGCAATAGACAAGCTTTGAGGGTACAAATTTGAAATGTATATTTATAAACTTGAAATACTTACATATATATGTATATAAATATACACACACACCCCACACAATCCATAGGCACACATGCAGGCAGACAAAAACCAATAAGGATATAGAATATTTAAACAAAATTATACCCATCAACTGCAGAATATACATTTTTTAAGTGTACATAGATTATTTATAAAAATAAACAATGTGCTGGACCATAAATCAAGTTTAAATAAATTGCAAAGTATTGAAATCACATGCGTTCTCTGACCACAGCGCAGTCAAAGTGCAGTCAAAGTAGAAATCAGTAACAGAAAGATAAATAGAAAAAATAAAAATATTTGGAAATTAAACAATATACAAAGGAAATTAGAACATTGTTTGCCTAAATGATGATGAAAATGATATGTAAATGTGCAGGAAGCACTTAAATAGCACATAGCGGGAAATTTATAACTTTAAATGCCTATATTAAAAATAAAGAAAGGTTGAAATCATGATCTAAACTTTAATTTTAGGAAGTTAAAAGCAAAATTAATTAAACTCCTCCAAAATAGAAGGAAATAATAAAATCAGAACAAAAACTAGCAAAATAGAAAGAATTATGTTGTGGAAAATCAACAAAATCAAAAGTCGATTTTTAAAAAAAGATTAACAAAATTGATAAAGCTCTACTAAGACTGATCAAGTACAAAGAGAAAACACAACAGTATCAGGAATGAAAAGAGATGTATTACAATAGATTCTACAGGTGTTAAATGGATGTGAATGCACAGCTTTATTTCAATAAATTTAACAATTAGTTGGAATGAACATATCCCTTGAAAAACACTGTTTATGAAACTGATATACACACAGAAAAACATGCATAATCCTATGGCTATGAAAGAAAATTCATCCATAATTTAAAACGTTCACATTCACACACACACACACACACACACACACACACACACACACACACACACCAATCCACCCACCCATACCCTTGCCCAGATGGCTTCTTTGAGGAATTCCTCTAAAACCTTTCAGGGAAGAAATAACGCTGATCTTGCATAAAAGTTCTCGAAGAACAGAAAAAGAGAGAATGGTTTCCACCTCATTTTATAAGGCCAGCATAACCTTGATACCATAACCTGACTTAGATATTATAAGTGTTGAGCAAAACAAATCAGACACAGAAGAGTAAATACTGTTTGATTCCATTAATATGAAATTCAAGAGCAGACACCACAATTGTAATCAGCATAATGGTTATTCTTAGAGGGATGAGATACTGACTGGGAAATAGCATGAGGGAATCTTTTGGAATGCTGGAATGTTCTATATCTTTATCTGGATACTAATTGTAAGAGTATGTACATATGTATAAATTCATTGAGCTGTACACAAGATTTGTGCACTTTATGTTATATAAGACAAAATACTATAAACTCTGCCATAACACATGGCTATTCTCATCATCACATAATTTATCTTCTATCTTAATTGAATCCAATGTGCATTTCACTTGCTAACATTTTATTTTGACTGCATTTGATAAATGCCAACTTCTGATGGCAGCTGGCTTGAACAGCAGGGAGCATATGCCCTAGGCACCCCCATCCCTACAACTTTGGGAATAAAGGAATTAGCCTAACCTGGAGTTGACTATGATAGAGTATCTAGTTTTCCCACTCTGTCTCGCTTGCTCACTTAAAACAGCATTATTTTCTTTATAGGCCCGGTGGTTCTGGGAAGCGTACTTCCAGTCAATTAAAGCCATTGCCCTGGCCACCCTGCAGATTATCAATGACCGGATCTATCCATATGCTGCCATCTCCTATGAAGAATGGAATGACCCTCCTGCTGTGGTAAGTGAATTCCAGTGCTAGCCACATGAGGCATGGTCCAGCTGTCAGGGTGGGTGGAAGGAAAAATGTACTACAATTGTAAAGGTTATTTAAATTCTAGCTTTCTAAGATGAGAGTGTGCTTTTTATACTTGGGGCCTGATAAGGGCAGCATAATTTTGAAACACTGACAAAAGTAAAAAATACGGAAGCAGCAGCTTCCAGTGTGTTTTAAGTGCTTAGAAAGACTGTCTATTTATTGCAGAGATAAGTAAGGAGGCATGGGTCTTGTTGGAAATCAAAGACATCCCGGTGACTTTTGCAATTGTAATGCTTAGAGCTTTTGAAAAACTTCTGTAAGCAACGTAATAATAATAGCTTGTATTTTGAGTGCTTACTCTGCCAGGGACTGTGCTAAGTGCTTTACGTGTATTACCTCAATTAATATTTCCAACACTCTGTGAGGAAAATAATAAGCAGAAGTGATCTAGAGGCATTACGGATTGCTATAGTCATTTGCTCAAGATTGTGGCAGAGGCTTCTAGCTACTTCCAGCAAAGAGATGGAGCAGTCAGAAGCTGCTCTTGGGCCTTCCTCCTTGTGTGAAGGAATCACAAGGCACATGTGTCCTTGTAGAAACTGTGGCAGTGGCTTCTAGGCACAGCTTCTTTCTCACTGAAAATGCCTGAAGTTTTGGAGCTGGAAATTACTACTTCCTAGCTGCTCTGAAGTGAACCTGGCTGTCCAGCTCACAGACGTCAAGGCATTCCTGTAAGAGAACTAGACTGTTCTCCATTCTTCATTCTAATTGTCTCTCTCTTTCTGACCTCTCAGCCCTCCTTGTCTCCTGATTCTACCTTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTTGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCATCCGCCACCAAGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAGGGTTGGCCAGGCTGGTCTCGAACGCCTGACCTCAGGTGATCCACCTGCCTTGTCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCAGGCCCCGATTCTACCTTTTCTAAATAGTGCTGTATATGGCTACCTGGTTAATCTTCATATAGGACCATCCTTTTCTCTTTCCTTTCCTGCCCACCTTCTTCCTTCTTTCATCCAGCCTTTTTGAAATGGTTACTGGGTTTTAGGCACTCTGAGAGGTGTTGAGAATACAGAAAAAAGAAGACAGTTCCTGCCTTCAAAGAAGCTCTCCGCTGATTTGGGAAGCTAGCAAGTAATGCTGTGAATGTAGAGGTCCTGTAGTGGAGTAGAGTGGTGTACTGAGTGCTGTGGATGCAAAGGGGACAGGCATCTCTCCTCACTGGGACACCTCCTGAAGAGGGAGTGCCTGAGAGGAAGTCAGTATGTGCGTATGGTAAAAACAACAGCAAACATCTTTTTGTTTTGCTTGAGGTGAAGTTTGCTTCTATCTCCCCGACTCCATTACCAAAGGTAACATCTCAGAATGTAAGCATAATTTTGTAGTTTTAAAACATATATGGGATTATACTAAACATGTTTTTCTGCCTTTTTTATTTTAGCACTAGATCATAGACTTATTTTTGTTTTATTCCATATAGGTCTCCTTCAGTTTTTTAGGATGGCTGTATTAGTATTCAATTGTTTGGGTATATCGTATGTAATAGGTCTATTATTGATAGGTATTTAGACTGCTTTCTTTTTTTTTCTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGCGCAATGCCGGCTCACTGCAAGTTCCGCCTTCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGTCCGGCTAATTTTTTGT
AATATATTAAAACCCAGTAACAGATTGATTATCCCTTATCCAAAATGCTTGGGAGCAGAAGTATTTCAGATTTCAGATTTTTTTTTAGATTTTAGGGAATCTGAAATGCTCCAATGAGTATTTCCTTTGAGCATCATGTCAGCACTCAAAAAGTTTTGGATTTTGGAGCATTTTAGCTTTGATTTTTTGGATTTAGGATGCTCAACCTGTATATGCTTTTCGCAATAGACAAGCTTTGAGGGTACAAATTTGAAATGTATATTTATAAACTTGAAATACTTACATATATATGTATATAAATATACACACACACCCCACACAATCCATAGGCACACATGCAGGCAGACAAAAACCAATAAGGATATAGAATATTTAAACAAAATTATACCCATCAACTGCAGAATATACATTTTTTAAGTGTACATAGATTATTTATAAAAATAAACAATGTGCTGGACCATAAATCAAGTTTAAATAAATTGCAAAGTATTGAAATCACATGCGTTCTCTGACCACAGCGCAGTCAAAGTGCAGTCAAAGTAGAAATCAGTAACAGAAAGATAAATAGAAAAAATAAAAATATTTGGAAATTAAACAATATACAAAGGAAATTAGAACATTGTTTGCCTAAATGATGATGAAAATGATATGTAAATGTGCAGGAAGCACTTAAATAGCACATAGCGGGAAATTTATAACTTTAAATGCCTATATTAAAAATAAAGAAAGGTTGAAATCATGATCTAAACTTTAATTTTAGGAAGTTAAAAGCAAAATTAATTAAACTCCTCCAAAATAGAAGGAAATAATAAAATCAGAACAAAAACTAGCAAAATAGAAAGAATTATGTTGTGGAAAATCAACAAAATCAAAAGTCGATTTTTAAAAAAAGATTAACAAAATTGATAAAGCTCTACTAAGACTGATCAAGTACAAAGAGAAAACACAACAGTATCAGGAATGAAAAGAGATGTATTACAATAGATTCTACAGGTGTTAAATGGATGTGAATGCACAGCTTTATTTCAATAAATTTAACAATTAGTTGGAATGAACATATCCCTTGAAAAACACTGTTTATGAAACTGATATACACACAGAAAAACATGCATAATCCTATGGCTATGAAAGAAAATTCATCCATAATTTAAAACGTTCACATTCACACACACACACACACACACACACACACACACACACACACACACACCAATCCACCCACCCATACCCTTGCCCAGATGGCTTCTTTGAGGAATTCCTCTAAAACCTTTCAGGGAAGAAATAACGCTGATCTTGCATAAAAGTTCTCGAAGAACAGAAAAAGAGAGAATGGTTTCCACCTCATTTTATAAGGCCAGCATAACCTTGATACCATAACCTGACTTAGATATTATAAGTGTTGAGCAAAACAAATCAGACACAGAAGAGTAAATACTGTTTGATTCCATTAATATGAAATTCAAGAGCAGACACCACAATTGTAATCAGCATAATGGTTATTCTTAGAGGGATGAGATACTGACTGGGAAATAGCATGAGGGAATCTTTTGGAATGCTGGAATGTTCTATATCTTTATCTGGATACTAATTGTAAGAGTATGTACATATGTATAAATTCATTGAGCTGTACACAAGATTTGTGCACTTTATGTTATATAAGACAAAATACTATAAACTCTGCCATAACACATGGCTATTCTCATCATCACATAATTTATCTTCTATCTTAATTGAATCCAATGTGCATTTCACTTGCTAACATTTTATTTTGACTGCATTTGATAAATGCCAACTTCTGATGGCAGCTGGCTTGAACAGCAGGGAGCATATGCCCTAGGCACCCCCATCCCTACAACTTTGGGAATAAAGGAATTAGCCTAACCTGGAGTTGACTATGATAGAGTATCTAGTTTTCCCACTCTGTCTCGCTTGCTCACTTAAAACAGCATTATTTTCTTTATAGGCCCGGTGGTTCTGGGAAGCGTACTTCCAGTCAATTAAAGCCATTGCCCTGGCCACCCTGCAGATTATCAATGACCGGATCTATCCATATATGCTGCCATCTCCTATGAAGAATGGAATGACCCTCCTGCTGTGGTAAGTGAATTCCAGTGCTAGCCACATGAGGCATGGTCCAGCTGTCAGGGTGGGTGGAAGGAAAAATGTACTACAATTGTAAAGGTTATTTAAATTCTAGCTTTCTAAGATGAGAGTGTGCTTTTTATACTTGGGGCCTGATAAGGGCAGCATAATTTTGAAACACTGACAAAAGTAAAAAATACGGAAGCAGCAGCTTCCAGTGTGTTTTAAGTGCTTAGAAAGACTGTCTATTTATTGCAGAGATAAGTAAGGAGGCATGGGTCTTGTTGGAAATCAAAGACATCCCGGTGACTTTTGCAATTGTAATGCTTAGAGCTTTTGAAAAACTTCTGTAAGCAACGTAATAATAATAGCTTGTATTTTGAGTGCTTACTCTGCCAGGGACTGTGCTAAGTGCTTTACGTGTATTACCTCAATTAATATTTCCAACACTCTGTGAGGAAAATAATAAGCAGAAGTGATCTAGAGGCATTACGGATTGCTATAGTCATTTGCTCAAGATTGTGGCAGAGGCTTCTAGCTACTTCCAGCAAAGAGATGGAGCAGTCAGAAGCTGCTCTTGGGCCTTCCTCCTTGTGTGAAGGAATCACAAGGCACATGTGTCCTTGTAGAAACTGTGGCAGTGGCTTCTAGGCACAGCTTCTTTCTCACTGAAAATGCCTGAAGTTTTGGAGCTGGAAATTACTACTTCCTAGCTGCTCTGAAGTGAACCTGGCTGTCCAGCTCACAGACGTCAAGGCATTCCTGTAAGAGAACTAGACTGTTCTCCATTCTTCATTCTAATTGTCTCTCTCTTTCTGACCTCTCAGCCCTCCTTGTCTCCTGATTCTACCTTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTTGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCATCCGCCACCAAGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAGGGTTGGCCAGGCTGGTCTCGAACGCCTGACCTCAGGTGATCCACCTGCCTTGTCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCAGGCCCCGATTCTACCTTTTCTAAATAGTGCTGTATATGGCTACCTGGTTAATCTTCATATAGGACCATCCTTTTCTCTTTCCTTTCCTGCCCACCTTCTTCCTTCTTTCATCCAGCCTTTTTGAAATGGTTACTGGGTTTTAGGCACTCTGAGAGGTGTTGAGAATACAGAAAAAAGAAGACAGTTCCTGCCTTCAAAGAAGCTCTCCGCTGATTTGGGAAGCTAGCAAGTAATGCTGTGAATGTAGAGGTCCTGTAGTGGAGTAGAGTGGTGTACTGAGTGCTGTGGATGCAAAGGGGACAGGCATCTCTCCTCACTGGGACACCTCCTGAAGAGGGAGTGCCTGAGAGGAAGTCAGTATGTGCGTATGGTAAAAACAACAGCAAACATCTTTTTGTTTTGCTTGAGGTGAAGTTTGCTTCTATCTCCCCGACTCCATTACCAAAGGTAACATCTCAGAATGTAAGCATAATTTTGTAGTTTTAAAACATATATGGGATTATACTAAACATGTTTTTCTGCCTTTTTTATTTTAGCACTAGATCATAGACTTATTTTTGTTTTATTCCATATAGGTCTCCTTCAGTTTTTTAGGATGGCTGTATTAGTATTCAATTGTTTGGGTATATCGTATGTAATAGGTCTATTATTGATAGGTATTTAGACTGCTTTCTTTTTTTTTCTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGCGCAATGCCGGCTCACTGCAAGTTCCGCCTTCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGTCCGGCTAATTTTTT
pathogenic
174,752
Is the variant located on chromosome 11 at position 44232467, gene EXT2 (exostosin glycosyltransferase 2), benign or pathogenic? If pathogenic, specify the disease(s) linked.
pathogenic; ['Exostoses,_multiple,_type_2']
TATGGGTTGAATTGTTGAAGTCCTGATCTTCAGTACCTCAAAATGTGACTTTATTTGGAAATGGGGTATTTTCAGAGGTTAATCAAGTTAAAATGTTGTCAGGGTGACCCCTAATTCACAGACTGATGTCCTTATCGAAAGGGGAAATTTAGACACAGAGATAGACTTGCACAGGGGGGAAGATGGCCTTGTGAAGATGGAGGGTTGGAGTGAGGCATCTACAAGCCAGGCAATGCCAGAGATTGACAGCCAGCTACCAGAAGCTAGGAAGAGGCAAGGAAACATTTCCCGATATGTTTCAGTGGGAGCATGGCCTTAATAACGCCTTGCTTTCAGATTTCTAACCTCTAGAACTTGAGACTAGTTTCTGATCTAAGCCCCCCAATTTGTGGTTCTTTGTTAACAGCAACCCTAGGAAACTGAAAAGGGCATAGGGTCCAAACACACTGGCTCTGCCCTAGGGAATGGCATGAAGTGTCCTTTCTGGACTCAGCAACACTTGTGTGTTGGGGAAGCCTCTAGTTGCTCTGGCATATGATCATATGACTTTTATATATATTTAGGGAAATCGATGATGAAAATAACTATATTAAAATAGATATAAAATAGGATAGAATGCACTAGTTGAATTACCCTGTGCAGAATACCCTAATATTCTTTTAGGAATGGTCCTTTTAGGGATGCTGTGCAAATGATGCTTTGGAAGGGCAAGAATGGCACGAAGGAGACAAGTTAGAAGGCTAGCACAGTAATCTTGGTGATAGATCGTGGTGGTTTGGGCTAGAGGGAATGGCACTAGAGGTGGTAAGAGATAGAAGAAGAGCCAGCAGTACTCGCTAATGGATTGAACATGAGGAAAGGAAGGAATAAAGACTGAGTCTTAGCTTTTGGGTTTGAGCAACTGGCCGGATGATTTATTGAGATGGAGAAGATTGAGAGAATGACTTGTCTAGGGATAAGGAATCAAGACTTATGTTTTGGACGTGTTAGGTTTGTTTATCCAGGTGGAGATATTAACTAAGTGGTTGGCTATCTTAGGAACATTCGGGGCTAAACATAAATTTAGAGGTCACCAGATTATTGATGATATTTAAAGTGATTGAAACTAGATGAGACTACTTAAAGAAAGAGTTTGAAGAAGAGAATAGAGCCTAGGACCGAATTCTCAGAAGTCTGGTGATGGTTGAGGAACTAGCAACAGAGACTGAGAAGAAGCACCAAGACTAGCCAACAAATTGTTATACTCATTCATGGTATGGATCTTTTCAAGGTTAGACTAAATTATACAGAAACACATGGGAGAAGGTACTGGAAGTTCCTCATCCCCAGTATACCCAATTCTGCTTAATCCAACAAAGCTCTTATGTAAGGACCTTTCCAGATTTGGAAAGCAAGTATTTGTTTTCATTGTTTTACAGATTACAGAATCAGACAGCCCTTCTATCCTTTAGGCTTCCAGTAGGTCATAAGAATGGTGTATGCTCAAGAGAAATAGATGCTTTTTTTTAATAAGAAATGGGACTTTATCATAAGTTTTCATAATCACCAATTTAATACAAATCAGGGCAGTTGAGTTGCAGGGTTCCATTTATCCTTCATTTTGTGAATTCATTAAGAATGGAACCTATTTCATTAATCATATGTTAAGAGATTGCCTACCTTGGCCCAACTCAGTAAGCTATTACCCCCACATTAATTGAAATTCCCAAGCATATACAAGAAGATTGGGAGGAAGTCAGAATCAGCATCTGTCTTTGAGTTTTGGCAGAATAACTAACACCTGTTTGATGGAACATCTCCAGAATCCCATTATGACCTTCTTAGGTTATGATGGTTTGAACCTAGGAAGTCTGTTGATACCTGTTTGGATAACTCAGCACTGAATGGTTGCTGTCTGAATTGGGACTTGATTGTTATTATGTGTCTGTCCTTAGGTCTGGCGGGAATTTCCTGACCGGTTGGTGGGTTACCCGGGTCGTCTGCATCTCTGGGACCATGAGATGAATAAGTGGAAGTATGAGTCTGAGTGGACGAATGAAGTGTCCATGGTGCTCACTGGGGCAGCTTTTTATCACAAGGTAAGGGGGCGCAGTCCTGGCAAGGTGACAAAACTGAGAGAATGATACACATTTTATTTGACCCAATTTAATTTTTCATACCTGCCAAGAGGGCTTAGAAAAGCCATATTGTGTGACAGTATTTTACAAATAAAGCTATCCTTTTTCTAATTATAAAAGTAATGCACGCTCATAGTAGAAAATATGAAAATAGAATGAAGAAAAGTTACTTGTAATCCTGTCACTTCGAGATAACCATTTTATCATTCAGGTGCTATTTCCAGCTTGCCGTTTATTTATTTACTTACTTGTATGTATACACAGACAGTTGTAAATATTCTCATTAGCCTGCTTTTTCATGGATTGTATTGTGAGCCTTTTCTCATGTCATTGACATTTCTTCATAAACAGTTACTTGTTAGCATAATTAAGATACCATTATCTTAATGTTTTAGAAGTCATGTATAACTATTTTGCTATCGTGGATATTACTTTCTAAATTTTTGCTATTTTAAATAACGCTTAATATCTAATGTTAGTGATAGATGTCCATTTTCATAACTGTTTGTACTCATGACCATTGTGATAGATTCCTAGAAATAGAATTATTATATCAAAGGGCATGAATATTTTGGGTTTTTTAAGATGTATGTACATACATGTATATATACACATATACATATATATGTTGTGAATATTCTAAGCATATATATGTTGTGTATGTATACGTGTGTGTGTGTCTGTTGGTTTCAGGATTGTTTGTGCAAATTTACACTCCCACCAGCAAAATATAAAACTGTTTTACCATGCCTTTTCTTGCATGAAATATGATTAATAGAAAAGAAATGAGCAATTTTGATAAGTAAAAGTGAATTTTATTGTTTTAACTTTGATTTGATTACTAGTAAGACTGAAATTCCTTTTGTGTATTTATTAGCTTTTTGTACTTCCTCTCTTCTGGGAATCATCACTTCGTGTTTTTGACTCTTTTTTTATTAGGGAGAGATTGGGGAATATGCATTTGATTTTAGAATATTCAGTTCAATAGTAGAATGCTCCCTGGGAGTATATGGTTTAATTAAACAATCATAACTTGTCTGTTGTCAGCAGTAGCATAAAGAACTGATGTCGGGAGAAAGGTCTGTTCAGCTCAACACAGTTAATTTAATTTAGCTGTATTCATATCGATTGTTTGTTGTTAGCTCAGCACTACTGCCCTCATATTTTTCAGGTCTCTAGATCCAGAAATGGGTTTTTTTATTTTGTAATAAGCAAACAAAAAAACCCAAAAACTAAGGTTTACAATTCATGGGATTTACAGTAGTAGACTATGTATGCTTTATTTTTTTTGACCCAATAATTTCTACACTATTTCATATATATGGTAGTTTTAGAATTGCCTCATTTTTCTTCTACTTTAAAAAGCACACACTTTGGTAGAAAATGACCATATTGAACATGCTTGGTCACTTGACCAAAAGCATTCTAATGCCTCCTTTTACCCTTCCTATTAATACAGCCTTGTGATTAATCTTATGAGAGAAAGCTTGTCCCCATGCCTTGGCTATGCTGCCCCTTATTTATCAGCTAAAGGGAACTGCTATTTTTGAATATTTCTTCTTTCTGTCTCACTTGACAGTATTTTAATTACCTGTATACCTACAAAATGCCTGGGGATATCAAGAACTGGGTAGATGCTCATATGAACTGTGAAGATATTGCCATGAACTTCCTGGTGGCCAACGTCACGGGAAAAGCAGTTATCAAGGTAGGAGGCTCTGCCACTCACTTGCTTTGTGATCTTGGGCAAATATCTATTATCTGAGCCTAGGAAGTTCTTGTAACTATAAATTAAATATAGGACTAGATAAACTTTAAGCTCTATTTTAGTTTAAGGTTCTATGATTGATGCGGTCACATTGGGAAATTGAAGCTAGGCTTTGACAATTTAAACATATTTTCTTTTTTTATACAGTTTCTTTAGTTGCAGTTTTTAACCTTCAGTATCAGAATAAAGGCTATGATGATCAGTCTATAAA
TATGGGTTGAATTGTTGAAGTCCTGATCTTCAGTACCTCAAAATGTGACTTTATTTGGAAATGGGGTATTTTCAGAGGTTAATCAAGTTAAAATGTTGTCAGGGTGACCCCTAATTCACAGACTGATGTCCTTATCGAAAGGGGAAATTTAGACACAGAGATAGACTTGCACAGGGGGGAAGATGGCCTTGTGAAGATGGAGGGTTGGAGTGAGGCATCTACAAGCCAGGCAATGCCAGAGATTGACAGCCAGCTACCAGAAGCTAGGAAGAGGCAAGGAAACATTTCCCGATATGTTTCAGTGGGAGCATGGCCTTAATAACGCCTTGCTTTCAGATTTCTAACCTCTAGAACTTGAGACTAGTTTCTGATCTAAGCCCCCCAATTTGTGGTTCTTTGTTAACAGCAACCCTAGGAAACTGAAAAGGGCATAGGGTCCAAACACACTGGCTCTGCCCTAGGGAATGGCATGAAGTGTCCTTTCTGGACTCAGCAACACTTGTGTGTTGGGGAAGCCTCTAGTTGCTCTGGCATATGATCATATGACTTTTATATATATTTAGGGAAATCGATGATGAAAATAACTATATTAAAATAGATATAAAATAGGATAGAATGCACTAGTTGAATTACCCTGTGCAGAATACCCTAATATTCTTTTAGGAATGGTCCTTTTAGGGATGCTGTGCAAATGATGCTTTGGAAGGGCAAGAATGGCACGAAGGAGACAAGTTAGAAGGCTAGCACAGTAATCTTGGTGATAGATCGTGGTGGTTTGGGCTAGAGGGAATGGCACTAGAGGTGGTAAGAGATAGAAGAAGAGCCAGCAGTACTCGCTAATGGATTGAACATGAGGAAAGGAAGGAATAAAGACTGAGTCTTAGCTTTTGGGTTTGAGCAACTGGCCGGATGATTTATTGAGATGGAGAAGATTGAGAGAATGACTTGTCTAGGGATAAGGAATCAAGACTTATGTTTTGGACGTGTTAGGTTTGTTTATCCAGGTGGAGATATTAACTAAGTGGTTGGCTATCTTAGGAACATTCGGGGCTAAACATAAATTTAGAGGTCACCAGATTATTGATGATATTTAAAGTGATTGAAACTAGATGAGACTACTTAAAGAAAGAGTTTGAAGAAGAGAATAGAGCCTAGGACCGAATTCTCAGAAGTCTGGTGATGGTTGAGGAACTAGCAACAGAGACTGAGAAGAAGCACCAAGACTAGCCAACAAATTGTTATACTCATTCATGGTATGGATCTTTTCAAGGTTAGACTAAATTATACAGAAACACATGGGAGAAGGTACTGGAAGTTCCTCATCCCCAGTATACCCAATTCTGCTTAATCCAACAAAGCTCTTATGTAAGGACCTTTCCAGATTTGGAAAGCAAGTATTTGTTTTCATTGTTTTACAGATTACAGAATCAGACAGCCCTTCTATCCTTTAGGCTTCCAGTAGGTCATAAGAATGGTGTATGCTCAAGAGAAATAGATGCTTTTTTTTAATAAGAAATGGGACTTTATCATAAGTTTTCATAATCACCAATTTAATACAAATCAGGGCAGTTGAGTTGCAGGGTTCCATTTATCCTTCATTTTGTGAATTCATTAAGAATGGAACCTATTTCATTAATCATATGTTAAGAGATTGCCTACCTTGGCCCAACTCAGTAAGCTATTACCCCCACATTAATTGAAATTCCCAAGCATATACAAGAAGATTGGGAGGAAGTCAGAATCAGCATCTGTCTTTGAGTTTTGGCAGAATAACTAACACCTGTTTGATGGAACATCTCCAGAATCCCATTATGACCTTCTTAGGTTATGATGGTTTGAACCTAGGAAGTCTGTTGATACCTGTTTGGATAACTCAGCACTGAATGGTTGCTGTCTGAATTGGGACTTGATTGTTATTATGTGTCTGTCCTTAGGTCTGGCGGGAATTTCCTGACCGGTTGGTGGGTTACCCGGGTCGTCTGCATCTCTGGGACCATGAGATGAATAAGTGGAAGTATGAGTCTGAGTGGACGAATGAAGTGTCCATGGGCTCACTGGGGCAGCTTTTTATCACAAGGTAAGGGGGCGCAGTCCTGGCAAGGTGACAAAACTGAGAGAATGATACACATTTTATTTGACCCAATTTAATTTTTCATACCTGCCAAGAGGGCTTAGAAAAGCCATATTGTGTGACAGTATTTTACAAATAAAGCTATCCTTTTTCTAATTATAAAAGTAATGCACGCTCATAGTAGAAAATATGAAAATAGAATGAAGAAAAGTTACTTGTAATCCTGTCACTTCGAGATAACCATTTTATCATTCAGGTGCTATTTCCAGCTTGCCGTTTATTTATTTACTTACTTGTATGTATACACAGACAGTTGTAAATATTCTCATTAGCCTGCTTTTTCATGGATTGTATTGTGAGCCTTTTCTCATGTCATTGACATTTCTTCATAAACAGTTACTTGTTAGCATAATTAAGATACCATTATCTTAATGTTTTAGAAGTCATGTATAACTATTTTGCTATCGTGGATATTACTTTCTAAATTTTTGCTATTTTAAATAACGCTTAATATCTAATGTTAGTGATAGATGTCCATTTTCATAACTGTTTGTACTCATGACCATTGTGATAGATTCCTAGAAATAGAATTATTATATCAAAGGGCATGAATATTTTGGGTTTTTTAAGATGTATGTACATACATGTATATATACACATATACATATATATGTTGTGAATATTCTAAGCATATATATGTTGTGTATGTATACGTGTGTGTGTGTCTGTTGGTTTCAGGATTGTTTGTGCAAATTTACACTCCCACCAGCAAAATATAAAACTGTTTTACCATGCCTTTTCTTGCATGAAATATGATTAATAGAAAAGAAATGAGCAATTTTGATAAGTAAAAGTGAATTTTATTGTTTTAACTTTGATTTGATTACTAGTAAGACTGAAATTCCTTTTGTGTATTTATTAGCTTTTTGTACTTCCTCTCTTCTGGGAATCATCACTTCGTGTTTTTGACTCTTTTTTTATTAGGGAGAGATTGGGGAATATGCATTTGATTTTAGAATATTCAGTTCAATAGTAGAATGCTCCCTGGGAGTATATGGTTTAATTAAACAATCATAACTTGTCTGTTGTCAGCAGTAGCATAAAGAACTGATGTCGGGAGAAAGGTCTGTTCAGCTCAACACAGTTAATTTAATTTAGCTGTATTCATATCGATTGTTTGTTGTTAGCTCAGCACTACTGCCCTCATATTTTTCAGGTCTCTAGATCCAGAAATGGGTTTTTTTATTTTGTAATAAGCAAACAAAAAAACCCAAAAACTAAGGTTTACAATTCATGGGATTTACAGTAGTAGACTATGTATGCTTTATTTTTTTTGACCCAATAATTTCTACACTATTTCATATATATGGTAGTTTTAGAATTGCCTCATTTTTCTTCTACTTTAAAAAGCACACACTTTGGTAGAAAATGACCATATTGAACATGCTTGGTCACTTGACCAAAAGCATTCTAATGCCTCCTTTTACCCTTCCTATTAATACAGCCTTGTGATTAATCTTATGAGAGAAAGCTTGTCCCCATGCCTTGGCTATGCTGCCCCTTATTTATCAGCTAAAGGGAACTGCTATTTTTGAATATTTCTTCTTTCTGTCTCACTTGACAGTATTTTAATTACCTGTATACCTACAAAATGCCTGGGGATATCAAGAACTGGGTAGATGCTCATATGAACTGTGAAGATATTGCCATGAACTTCCTGGTGGCCAACGTCACGGGAAAAGCAGTTATCAAGGTAGGAGGCTCTGCCACTCACTTGCTTTGTGATCTTGGGCAAATATCTATTATCTGAGCCTAGGAAGTTCTTGTAACTATAAATTAAATATAGGACTAGATAAACTTTAAGCTCTATTTTAGTTTAAGGTTCTATGATTGATGCGGTCACATTGGGAAATTGAAGCTAGGCTTTGACAATTTAAACATATTTTCTTTTTTTATACAGTTTCTTTAGTTGCAGTTTTTAACCTTCAGTATCAGAATAAAGGCTATGATGATCAGTCTATAAAN
pathogenic
174,761
Evaluate if the mutation on chromosome 11 at position 44309737 in ALX4 (ALX homeobox 4) is benign or pathogenic. Disease name(s) if pathogenic?
benign
CAGGGACGAGCTGGGGCCTGCATCCCTGGGCTGGGAAGGACAGCCAGTACGGACAGGGCTGAGAGTCTCTGCTGGCTTAGCACGGAAAGAGTGCCTGTATGAGAGCTGTGTGTGTCCATGTGCGGAGCTGTGTGTGTCTGTGTGTGGAGCTGTGTGTGTCCATGTGTGGAGCTGTGTGTGTCCGTGTGTGGAGCTGTGGGTGTCCGTGTGTGGAGCTGTGGGTGTCTGTGTGTGGAGCAGTGGGTGTCTGTGTGTGGAACTGTGTGTGCCTGCATGTGGAGCTGTGGGTGTCTGTGTGTGGAGCCTTGGGGGTCTGTGATCTGAATGCCTGATCTCATTCCAACTGGAGGTGAAGAGGAAGGTGGAGGAAGTGGGGAAGGGCCACTGAATCTTTCTAAATCTTCTCTCAGTTCTGTCCTATGGGTTTGGGAGTATGTGGCTCATTCGAGGCCACATGGGCATGTGTTCTTGGGGTATGACCACATCGGCTCCTAAAGAAGATGCTCTCTGCGTGTGTGTGTGTAGAGTGCAATTGTAGACAAGCATATGACTGTGAATGTTTGTCAGCAGCCATCTATGAACTAGTTCTGCGCCTGTGAAAGAAGGAACCTGAATACGAGAAAATATCTGCCATCGGCTGTTTTCCCAAAGTTATTCTAGCCACCAAGGCCTCCGCCGTGTCCCAGCCTCTGTCCCCAGGCCTAGTGCCTCTCCATCAGCCTGGATCAGGGCAAATTCCCTGCCCCCAACTCTTCCCACCAGGGCCGGACCTGAAGGCCAAGGCCTCCGGGTATGTGCTCAGGACTCCTGGCCCAGAGAAGGTTTTTCCCTTTCTGCGTCTTTGCTTCCCCTTCCGCTTTGGGGTTCAGGAACCCCGATTCTCTGGAAGAAGAGAAGGCCTAGGCTACTGAGCTGCTCTGGCTAGAGACGTCCTTGAGTGTCTCTCTCTCCCGGGCAATGGTGGCTGTGCTCTGGGGGGCCCAGGCCTGCCTCCTGTGGCTGCGTTCAAGGCAGCTTGGAGGTCATTTAGGCCAGCTCCCCCGGGTTCCCCGTGGGCTCAAATCAGGACCCAGACCCTTCTCTCTTGCCACAGCTCTGGGCCACCTGGGACTCGGGACTTCCTGTCTCCCTTCCTACTCTGTCCTAAACCATTGTTCAGAGGCCTGCCGCCTCCAAGAATCGCCGAGGGAGAAGCTCCAGGGGAACTGGCCTGCCCGCATCCCCACTGCCAGTAGCGCTCAGGGTCCCAGGACTCGGGTCTTGCCAGACCACAGTGTCCCCTGGGACCCTAGGGTCTCTGGCTCCGCACTGTGTTGCGCCAGTGCGCCTGGATTTCCCGTGAGCTTTCGGCCAACCACGCTCCGGGCTTCCCGCCTGGCTCCGCACCTGCGGCGCTCTCACCTGCGGCGGCGCCGCCCGAGGAGCCTCCCAGCCGGCGAGGAGCGAGGCTTCTGCAGTCCTGCTGTCCCGCAGCCCCGCAGCCCCGCAGCCTCGCAGCCCCGCAGCCCCGCAGCCCCGCAGCCCCGCAGCCCCGCAGCCCAGCGCCAGAGCGCTGCGCGGAGACTCCTTGCCGCCGCACGCCCTGGGCCGGTAAGAAGCATCCGCTTCAAATCCCGCCCAGCGGGCAGCGCAAAGCGAGCGGTTTGGGGAAATGCCGAAGGGACCGGGAAAAACAAACTCCAAGTCGAGTTTAACAGCCGAAACGCTCCGTGCCTAGGCCGGCGGACAAGAAGGAGACAGAACAGATCCCTTGGCTCCCTCGCAGCGATCGATCCCGTTTACCGACCAGAGTCACCACCCCGCCCCCAGCCCGCCAACTCATACCTCCCGCAAGCCACCAGTTTCAAGGGATGCGGAAGCCAAGCACCCCGTGGTCCCCAGCACCAGGTGACCCGCACGTGCACTCACCGTAGCAGGGAACCTGCAAGGCCGCGCTGTGGCCGCTGCTGCCTTCCTGGAGTTTGAGGCTGCCGTCCGGGGGCGTCTTGCAGGCGCCTCGCTGCAAGTAAAGATGCGGTTGCGCGGGCGGCTGGGGCTGCGGCTGCTGCTGCTGCGGCTGCGGCTGCGGCGGCGGCTGGGGCTGCGGGGTCGACGGCTGGGGCTGGAACTTGTTAAAGGAGCCCCGCGCCCCAGCTCCACTCTCCAGGGGTGTCGCCAGGTCCTGCTGCCCAGCGCCGTAACGGGCCCGGCTCTTGGCGTCCCCGAATCCCTGTGCTTTGGCGGCGGCCGACAGGAAAGTTGTGCCGAACTTGTCGCCTCCGGGAAATGCCCTAAAAGGCGACGAGCCCTCCCGACTCTGCGACACCGGGCTGTAGTAGGCGTCCATGGCAGCGGCCGGCGACTCGCAGTAAGAGACGCAAGTCTCAGCATTCATGCCTGGCTTGCGCAGGCGGCGGGCGGGGACGCGAGCGAGGGCGCGAGGACGCCACCGCGCGCCTTGGCTGGGAGTTTGGGGAGGCGAGGAGGCTGTGGCTGTGCACTCCTTGCCCGGCCTGCTCGCTCTCCCTCCTCCCCTCCACGCCGGCCTCTCTCTCTCTCCCCCTCTTCTTTCTCTGTCTCTCTCCTCTCTCTCCCTCCTCTCTCTCTCTTCCCCTCCCTCCCCCCCCCTTCCTCTCTCTCTCCCTCTCTCTCTTTCCTCCCTCCCCACAGCTAGCCGAGGGAAAGAACGGAGGGCAGTAAAAAGATTCAGATGTTTCGGAAAGTTGACCAGATCTCCCAAACCCTCTTAAGGTTTTGCAGCGGAAAAAAAAAATAAGTAAATTTTTTTCCCTGCCTTGCTTCTTCCTTTCCCCCTCTCTCGTCCCCTCCTCCTCTCTCCTTCCACTGGCCCCTGCCCCCTCCTCTCCACTCTTAAGGAGATGCTACTAACTCGCTAGCGGGGATTCAACCCGGAGGCGCCCGAGGGCTTTTCCGATTCTAGGCGGGGCTGGGGAGATGCCAGGATCCCCAGGGCTCCCGAGGCTAGGCTGAGAATTGGCGGGGTGTCGGAGCTTTGCCTTAGGGCAAAGGGAAATGCAAATTTTAATGACAGGTTAAAAAAAAGCCCCCCAAAATAAACCTAACAGGTTTTGACATTCGAAGCCAGGGGGACCACGGGCCTGCGGATGCAAGCGAGTCCTACGGACTCCTGCGCGCGAGCTCGCGGGCGCCGCTGCGGGCCTTCCCGCTGGCACCTTTTCCTAGGTTTCCAACCTTCCTCCCCATTCCCGTTCCTACGGGAGATTAACACACACACAAGCCTTCGTCGTCCAGTGCATGGTCACTTGCACGTCTTGTTAACTATTTCCCTCTGCTGTAAGGGCGCTGGGCTGGGATGTAGCGGAATCTGTGCTCCCTCAAGCCCTGGAGAAGCCCTGGGCTGGGCCCGGCTTCAGAAGCTTTAGAGCGCTGCCCTCTGCGCTCCCGTCTAGAGGCCGCACCGTTCACGCCCCACGTCTGCGCCCAGGCGAGGGGATTTCCTGCCAGGCGAAGTACAGAGAGCGGACTCTGGAGACCCCCTGACCTTGCCCGATAGTCGCGCTGTCACCTGTTCACTCCTTGGGGTCAGGGGTCGGGGAGAGGGGTGAGACCGTCTCTTCCCTTTCTGGCCTCACTGCCCCCGACTGTAAAACGAACTGCTTGGTTTTGATAGGTTGTGGTTTCACCACCACTGCGAGCCTCAAGGCCCCTGGCACCGCCACAGCAAGGGAAAAAACTTTGCGCGTGCAGCCCCTCGATTTCGCTTCATGACAACCGTGCTAGAGATTGGCGCCCCCAATTTTCTGATGAGCTAACGGAGGCTCAGAGAGGGGCGGCCACCTGGTCCAGGTCACACAGCTGGGAAATAGCCGTCGCGCCCTGGAACCTCTGCTCAGGCTAGTCCCTCCACCGACCTGGAAGGCCGTGCGGACAGCGTAGATGCAGAGGGGAAACTGGCCCCCGGCTGTGGAATGGTTCAAGTTGAAGGAGACCAGCGAGAGCAGCCTTCCTTAAACCGCTGAGAAAATCGTTAAGCGAGAACGTACCTCTAGGGAGTCTGGGAGTAGGGTGAGAGGTAAAAGTGCAAGGTAAAATTAAAGAGGGCCTGAGCACCGTGAACCAAGGAATGTGGGTCAGA
CAGGGACGAGCTGGGGCCTGCATCCCTGGGCTGGGAAGGACAGCCAGTACGGACAGGGCTGAGAGTCTCTGCTGGCTTAGCACGGAAAGAGTGCCTGTATGAGAGCTGTGTGTGTCCATGTGCGGAGCTGTGTGTGTCTGTGTGTGGAGCTGTGTGTGTCCATGTGTGGAGCTGTGTGTGTCCGTGTGTGGAGCTGTGGGTGTCCGTGTGTGGAGCTGTGGGTGTCTGTGTGTGGAGCAGTGGGTGTCTGTGTGTGGAACTGTGTGTGCCTGCATGTGGAGCTGTGGGTGTCTGTGTGTGGAGCCTTGGGGGTCTGTGATCTGAATGCCTGATCTCATTCCAACTGGAGGTGAAGAGGAAGGTGGAGGAAGTGGGGAAGGGCCACTGAATCTTTCTAAATCTTCTCTCAGTTCTGTCCTATGGGTTTGGGAGTATGTGGCTCATTCGAGGCCACATGGGCATGTGTTCTTGGGGTATGACCACATCGGCTCCTAAAGAAGATGCTCTCTGCGTGTGTGTGTGTAGAGTGCAATTGTAGACAAGCATATGACTGTGAATGTTTGTCAGCAGCCATCTATGAACTAGTTCTGCGCCTGTGAAAGAAGGAACCTGAATACGAGAAAATATCTGCCATCGGCTGTTTTCCCAAAGTTATTCTAGCCACCAAGGCCTCCGCCGTGTCCCAGCCTCTGTCCCCAGGCCTAGTGCCTCTCCATCAGCCTGGATCAGGGCAAATTCCCTGCCCCCAACTCTTCCCACCAGGGCCGGACCTGAAGGCCAAGGCCTCCGGGTATGTGCTCAGGACTCCTGGCCCAGAGAAGGTTTTTCCCTTTCTGCGTCTTTGCTTCCCCTTCCGCTTTGGGGTTCAGGAACCCCGATTCTCTGGAAGAAGAGAAGGCCTAGGCTACTGAGCTGCTCTGGCTAGAGACGTCCTTGAGTGTCTCTCTCTCCCGGGCAATGGTGGCTGTGCTCTGGGGGGCCCAGGCCTGCCTCCTGTGGCTGCGTTCAAGGCAGCTTGGAGGTCATTTAGGCCAGCTCCCCCGGGTTCCCCGTGGGCTCAAATCAGGACCCAGACCCTTCTCTCTTGCCACAGCTCTGGGCCACCTGGGACTCGGGACTTCCTGTCTCCCTTCCTACTCTGTCCTAAACCATTGTTCAGAGGCCTGCCGCCTCCAAGAATCGCCGAGGGAGAAGCTCCAGGGGAACTGGCCTGCCCGCATCCCCACTGCCAGTAGCGCTCAGGGTCCCAGGACTCGGGTCTTGCCAGACCACAGTGTCCCCTGGGACCCTAGGGTCTCTGGCTCCGCACTGTGTTGCGCCAGTGCGCCTGGATTTCCCGTGAGCTTTCGGCCAACCACGCTCCGGGCTTCCCGCCTGGCTCCGCACCTGCGGCGCTCTCACCTGCGGCGGCGCCGCCCGAGGAGCCTCCCAGCCGGCGAGGAGCGAGGCTTCTGCAGTCCTGCTGTCCCGCAGCCCCGCAGCCCCGCAGCCTCGCAGCCCCGCAGCCCCGCAGCCCCGCAGCCCCGCAGCCCCGCAGCCCAGCGCCAGAGCGCTGCGCGGAGACTCCTTGCCGCCGCACGCCCTGGGCCGGTAAGAAGCATCCGCTTCAAATCCCGCCCAGCGGGCAGCGCAAAGCGAGCGGTTTGGGGAAATGCCGAAGGGACCGGGAAAAACAAACTCCAAGTCGAGTTTAACAGCCGAAACGCTCCGTGCCTAGGCCGGCGGACAAGAAGGAGACAGAACAGATCCCTTGGCTCCCTCGCAGCGATCGATCCCGTTTACCGACCAGAGTCACCACCCCGCCCCCAGCCCGCCAACTCATACCTCCCGCAAGCCACCAGTTTCAAGGGATGCGGAAGCCAAGCACCCCGTGGTCCCCAGCACCAGGTGACCCGCACGTGCACTCACCGTAGCAGGGAACCTGCAAGGCCGCGCTGTGGCCGCTGCTGCCTTCCTGGAGTTTGAGGCTGCCGTCCGGGGGCGTCTTGCAGGCGCCTCGCTGCAAGTAAAGATGCGGTTGCGCGGGCGGCTGGGGCTGCGGCTGCTGCTGCTGCGGCGGCGGCTGGGGCTGCGGGGTCGACGGCTGGGGCTGGAACTTGTTAAAGGAGCCCCGCGCCCCAGCTCCACTCTCCAGGGGTGTCGCCAGGTCCTGCTGCCCAGCGCCGTAACGGGCCCGGCTCTTGGCGTCCCCGAATCCCTGTGCTTTGGCGGCGGCCGACAGGAAAGTTGTGCCGAACTTGTCGCCTCCGGGAAATGCCCTAAAAGGCGACGAGCCCTCCCGACTCTGCGACACCGGGCTGTAGTAGGCGTCCATGGCAGCGGCCGGCGACTCGCAGTAAGAGACGCAAGTCTCAGCATTCATGCCTGGCTTGCGCAGGCGGCGGGCGGGGACGCGAGCGAGGGCGCGAGGACGCCACCGCGCGCCTTGGCTGGGAGTTTGGGGAGGCGAGGAGGCTGTGGCTGTGCACTCCTTGCCCGGCCTGCTCGCTCTCCCTCCTCCCCTCCACGCCGGCCTCTCTCTCTCTCCCCCTCTTCTTTCTCTGTCTCTCTCCTCTCTCTCCCTCCTCTCTCTCTCTTCCCCTCCCTCCCCCCCCCTTCCTCTCTCTCTCCCTCTCTCTCTTTCCTCCCTCCCCACAGCTAGCCGAGGGAAAGAACGGAGGGCAGTAAAAAGATTCAGATGTTTCGGAAAGTTGACCAGATCTCCCAAACCCTCTTAAGGTTTTGCAGCGGAAAAAAAAAATAAGTAAATTTTTTTCCCTGCCTTGCTTCTTCCTTTCCCCCTCTCTCGTCCCCTCCTCCTCTCTCCTTCCACTGGCCCCTGCCCCCTCCTCTCCACTCTTAAGGAGATGCTACTAACTCGCTAGCGGGGATTCAACCCGGAGGCGCCCGAGGGCTTTTCCGATTCTAGGCGGGGCTGGGGAGATGCCAGGATCCCCAGGGCTCCCGAGGCTAGGCTGAGAATTGGCGGGGTGTCGGAGCTTTGCCTTAGGGCAAAGGGAAATGCAAATTTTAATGACAGGTTAAAAAAAAGCCCCCCAAAATAAACCTAACAGGTTTTGACATTCGAAGCCAGGGGGACCACGGGCCTGCGGATGCAAGCGAGTCCTACGGACTCCTGCGCGCGAGCTCGCGGGCGCCGCTGCGGGCCTTCCCGCTGGCACCTTTTCCTAGGTTTCCAACCTTCCTCCCCATTCCCGTTCCTACGGGAGATTAACACACACACAAGCCTTCGTCGTCCAGTGCATGGTCACTTGCACGTCTTGTTAACTATTTCCCTCTGCTGTAAGGGCGCTGGGCTGGGATGTAGCGGAATCTGTGCTCCCTCAAGCCCTGGAGAAGCCCTGGGCTGGGCCCGGCTTCAGAAGCTTTAGAGCGCTGCCCTCTGCGCTCCCGTCTAGAGGCCGCACCGTTCACGCCCCACGTCTGCGCCCAGGCGAGGGGATTTCCTGCCAGGCGAAGTACAGAGAGCGGACTCTGGAGACCCCCTGACCTTGCCCGATAGTCGCGCTGTCACCTGTTCACTCCTTGGGGTCAGGGGTCGGGGAGAGGGGTGAGACCGTCTCTTCCCTTTCTGGCCTCACTGCCCCCGACTGTAAAACGAACTGCTTGGTTTTGATAGGTTGTGGTTTCACCACCACTGCGAGCCTCAAGGCCCCTGGCACCGCCACAGCAAGGGAAAAAACTTTGCGCGTGCAGCCCCTCGATTTCGCTTCATGACAACCGTGCTAGAGATTGGCGCCCCCAATTTTCTGATGAGCTAACGGAGGCTCAGAGAGGGGCGGCCACCTGGTCCAGGTCACACAGCTGGGAAATAGCCGTCGCGCCCTGGAACCTCTGCTCAGGCTAGTCCCTCCACCGACCTGGAAGGCCGTGCGGACAGCGTAGATGCAGAGGGGAAACTGGCCCCCGGCTGTGGAATGGTTCAAGTTGAAGGAGACCAGCGAGAGCAGCCTTCCTTAAACCGCTGAGAAAATCGTTAAGCGAGAACGTACCTCTAGGGAGTCTGGGAGTAGGGTGAGAGGTAAAAGTGCAAGGTAAAATTAAAGAGGGCCTGAGCACCGTGAACCAAGGAATGTGGGTCAGANNNNNNNNNNNN
benign
174,814
The mutation in gene ALX4 (ALX homeobox 4) at chromosome 11, position 44309808—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic
CTGGCTTAGCACGGAAAGAGTGCCTGTATGAGAGCTGTGTGTGTCCATGTGCGGAGCTGTGTGTGTCTGTGTGTGGAGCTGTGTGTGTCCATGTGTGGAGCTGTGTGTGTCCGTGTGTGGAGCTGTGGGTGTCCGTGTGTGGAGCTGTGGGTGTCTGTGTGTGGAGCAGTGGGTGTCTGTGTGTGGAACTGTGTGTGCCTGCATGTGGAGCTGTGGGTGTCTGTGTGTGGAGCCTTGGGGGTCTGTGATCTGAATGCCTGATCTCATTCCAACTGGAGGTGAAGAGGAAGGTGGAGGAAGTGGGGAAGGGCCACTGAATCTTTCTAAATCTTCTCTCAGTTCTGTCCTATGGGTTTGGGAGTATGTGGCTCATTCGAGGCCACATGGGCATGTGTTCTTGGGGTATGACCACATCGGCTCCTAAAGAAGATGCTCTCTGCGTGTGTGTGTGTAGAGTGCAATTGTAGACAAGCATATGACTGTGAATGTTTGTCAGCAGCCATCTATGAACTAGTTCTGCGCCTGTGAAAGAAGGAACCTGAATACGAGAAAATATCTGCCATCGGCTGTTTTCCCAAAGTTATTCTAGCCACCAAGGCCTCCGCCGTGTCCCAGCCTCTGTCCCCAGGCCTAGTGCCTCTCCATCAGCCTGGATCAGGGCAAATTCCCTGCCCCCAACTCTTCCCACCAGGGCCGGACCTGAAGGCCAAGGCCTCCGGGTATGTGCTCAGGACTCCTGGCCCAGAGAAGGTTTTTCCCTTTCTGCGTCTTTGCTTCCCCTTCCGCTTTGGGGTTCAGGAACCCCGATTCTCTGGAAGAAGAGAAGGCCTAGGCTACTGAGCTGCTCTGGCTAGAGACGTCCTTGAGTGTCTCTCTCTCCCGGGCAATGGTGGCTGTGCTCTGGGGGGCCCAGGCCTGCCTCCTGTGGCTGCGTTCAAGGCAGCTTGGAGGTCATTTAGGCCAGCTCCCCCGGGTTCCCCGTGGGCTCAAATCAGGACCCAGACCCTTCTCTCTTGCCACAGCTCTGGGCCACCTGGGACTCGGGACTTCCTGTCTCCCTTCCTACTCTGTCCTAAACCATTGTTCAGAGGCCTGCCGCCTCCAAGAATCGCCGAGGGAGAAGCTCCAGGGGAACTGGCCTGCCCGCATCCCCACTGCCAGTAGCGCTCAGGGTCCCAGGACTCGGGTCTTGCCAGACCACAGTGTCCCCTGGGACCCTAGGGTCTCTGGCTCCGCACTGTGTTGCGCCAGTGCGCCTGGATTTCCCGTGAGCTTTCGGCCAACCACGCTCCGGGCTTCCCGCCTGGCTCCGCACCTGCGGCGCTCTCACCTGCGGCGGCGCCGCCCGAGGAGCCTCCCAGCCGGCGAGGAGCGAGGCTTCTGCAGTCCTGCTGTCCCGCAGCCCCGCAGCCCCGCAGCCTCGCAGCCCCGCAGCCCCGCAGCCCCGCAGCCCCGCAGCCCCGCAGCCCAGCGCCAGAGCGCTGCGCGGAGACTCCTTGCCGCCGCACGCCCTGGGCCGGTAAGAAGCATCCGCTTCAAATCCCGCCCAGCGGGCAGCGCAAAGCGAGCGGTTTGGGGAAATGCCGAAGGGACCGGGAAAAACAAACTCCAAGTCGAGTTTAACAGCCGAAACGCTCCGTGCCTAGGCCGGCGGACAAGAAGGAGACAGAACAGATCCCTTGGCTCCCTCGCAGCGATCGATCCCGTTTACCGACCAGAGTCACCACCCCGCCCCCAGCCCGCCAACTCATACCTCCCGCAAGCCACCAGTTTCAAGGGATGCGGAAGCCAAGCACCCCGTGGTCCCCAGCACCAGGTGACCCGCACGTGCACTCACCGTAGCAGGGAACCTGCAAGGCCGCGCTGTGGCCGCTGCTGCCTTCCTGGAGTTTGAGGCTGCCGTCCGGGGGCGTCTTGCAGGCGCCTCGCTGCAAGTAAAGATGCGGTTGCGCGGGCGGCTGGGGCTGCGGCTGCTGCTGCTGCGGCTGCGGCTGCGGCGGCGGCTGGGGCTGCGGGGTCGACGGCTGGGGCTGGAACTTGTTAAAGGAGCCCCGCGCCCCAGCTCCACTCTCCAGGGGTGTCGCCAGGTCCTGCTGCCCAGCGCCGTAACGGGCCCGGCTCTTGGCGTCCCCGAATCCCTGTGCTTTGGCGGCGGCCGACAGGAAAGTTGTGCCGAACTTGTCGCCTCCGGGAAATGCCCTAAAAGGCGACGAGCCCTCCCGACTCTGCGACACCGGGCTGTAGTAGGCGTCCATGGCAGCGGCCGGCGACTCGCAGTAAGAGACGCAAGTCTCAGCATTCATGCCTGGCTTGCGCAGGCGGCGGGCGGGGACGCGAGCGAGGGCGCGAGGACGCCACCGCGCGCCTTGGCTGGGAGTTTGGGGAGGCGAGGAGGCTGTGGCTGTGCACTCCTTGCCCGGCCTGCTCGCTCTCCCTCCTCCCCTCCACGCCGGCCTCTCTCTCTCTCCCCCTCTTCTTTCTCTGTCTCTCTCCTCTCTCTCCCTCCTCTCTCTCTCTTCCCCTCCCTCCCCCCCCCTTCCTCTCTCTCTCCCTCTCTCTCTTTCCTCCCTCCCCACAGCTAGCCGAGGGAAAGAACGGAGGGCAGTAAAAAGATTCAGATGTTTCGGAAAGTTGACCAGATCTCCCAAACCCTCTTAAGGTTTTGCAGCGGAAAAAAAAAATAAGTAAATTTTTTTCCCTGCCTTGCTTCTTCCTTTCCCCCTCTCTCGTCCCCTCCTCCTCTCTCCTTCCACTGGCCCCTGCCCCCTCCTCTCCACTCTTAAGGAGATGCTACTAACTCGCTAGCGGGGATTCAACCCGGAGGCGCCCGAGGGCTTTTCCGATTCTAGGCGGGGCTGGGGAGATGCCAGGATCCCCAGGGCTCCCGAGGCTAGGCTGAGAATTGGCGGGGTGTCGGAGCTTTGCCTTAGGGCAAAGGGAAATGCAAATTTTAATGACAGGTTAAAAAAAAGCCCCCCAAAATAAACCTAACAGGTTTTGACATTCGAAGCCAGGGGGACCACGGGCCTGCGGATGCAAGCGAGTCCTACGGACTCCTGCGCGCGAGCTCGCGGGCGCCGCTGCGGGCCTTCCCGCTGGCACCTTTTCCTAGGTTTCCAACCTTCCTCCCCATTCCCGTTCCTACGGGAGATTAACACACACACAAGCCTTCGTCGTCCAGTGCATGGTCACTTGCACGTCTTGTTAACTATTTCCCTCTGCTGTAAGGGCGCTGGGCTGGGATGTAGCGGAATCTGTGCTCCCTCAAGCCCTGGAGAAGCCCTGGGCTGGGCCCGGCTTCAGAAGCTTTAGAGCGCTGCCCTCTGCGCTCCCGTCTAGAGGCCGCACCGTTCACGCCCCACGTCTGCGCCCAGGCGAGGGGATTTCCTGCCAGGCGAAGTACAGAGAGCGGACTCTGGAGACCCCCTGACCTTGCCCGATAGTCGCGCTGTCACCTGTTCACTCCTTGGGGTCAGGGGTCGGGGAGAGGGGTGAGACCGTCTCTTCCCTTTCTGGCCTCACTGCCCCCGACTGTAAAACGAACTGCTTGGTTTTGATAGGTTGTGGTTTCACCACCACTGCGAGCCTCAAGGCCCCTGGCACCGCCACAGCAAGGGAAAAAACTTTGCGCGTGCAGCCCCTCGATTTCGCTTCATGACAACCGTGCTAGAGATTGGCGCCCCCAATTTTCTGATGAGCTAACGGAGGCTCAGAGAGGGGCGGCCACCTGGTCCAGGTCACACAGCTGGGAAATAGCCGTCGCGCCCTGGAACCTCTGCTCAGGCTAGTCCCTCCACCGACCTGGAAGGCCGTGCGGACAGCGTAGATGCAGAGGGGAAACTGGCCCCCGGCTGTGGAATGGTTCAAGTTGAAGGAGACCAGCGAGAGCAGCCTTCCTTAAACCGCTGAGAAAATCGTTAAGCGAGAACGTACCTCTAGGGAGTCTGGGAGTAGGGTGAGAGGTAAAAGTGCAAGGTAAAATTAAAGAGGGCCTGAGCACCGTGAACCAAGGAATGTGGGTCAGATGTCAACTTTCTGCATCTAAGGTCTCCCAAAGAAAAAATATACCTGGGGGGTCGCGCTTCTGCTCCCAATC
CTGGCTTAGCACGGAAAGAGTGCCTGTATGAGAGCTGTGTGTGTCCATGTGCGGAGCTGTGTGTGTCTGTGTGTGGAGCTGTGTGTGTCCATGTGTGGAGCTGTGTGTGTCCGTGTGTGGAGCTGTGGGTGTCCGTGTGTGGAGCTGTGGGTGTCTGTGTGTGGAGCAGTGGGTGTCTGTGTGTGGAACTGTGTGTGCCTGCATGTGGAGCTGTGGGTGTCTGTGTGTGGAGCCTTGGGGGTCTGTGATCTGAATGCCTGATCTCATTCCAACTGGAGGTGAAGAGGAAGGTGGAGGAAGTGGGGAAGGGCCACTGAATCTTTCTAAATCTTCTCTCAGTTCTGTCCTATGGGTTTGGGAGTATGTGGCTCATTCGAGGCCACATGGGCATGTGTTCTTGGGGTATGACCACATCGGCTCCTAAAGAAGATGCTCTCTGCGTGTGTGTGTGTAGAGTGCAATTGTAGACAAGCATATGACTGTGAATGTTTGTCAGCAGCCATCTATGAACTAGTTCTGCGCCTGTGAAAGAAGGAACCTGAATACGAGAAAATATCTGCCATCGGCTGTTTTCCCAAAGTTATTCTAGCCACCAAGGCCTCCGCCGTGTCCCAGCCTCTGTCCCCAGGCCTAGTGCCTCTCCATCAGCCTGGATCAGGGCAAATTCCCTGCCCCCAACTCTTCCCACCAGGGCCGGACCTGAAGGCCAAGGCCTCCGGGTATGTGCTCAGGACTCCTGGCCCAGAGAAGGTTTTTCCCTTTCTGCGTCTTTGCTTCCCCTTCCGCTTTGGGGTTCAGGAACCCCGATTCTCTGGAAGAAGAGAAGGCCTAGGCTACTGAGCTGCTCTGGCTAGAGACGTCCTTGAGTGTCTCTCTCTCCCGGGCAATGGTGGCTGTGCTCTGGGGGGCCCAGGCCTGCCTCCTGTGGCTGCGTTCAAGGCAGCTTGGAGGTCATTTAGGCCAGCTCCCCCGGGTTCCCCGTGGGCTCAAATCAGGACCCAGACCCTTCTCTCTTGCCACAGCTCTGGGCCACCTGGGACTCGGGACTTCCTGTCTCCCTTCCTACTCTGTCCTAAACCATTGTTCAGAGGCCTGCCGCCTCCAAGAATCGCCGAGGGAGAAGCTCCAGGGGAACTGGCCTGCCCGCATCCCCACTGCCAGTAGCGCTCAGGGTCCCAGGACTCGGGTCTTGCCAGACCACAGTGTCCCCTGGGACCCTAGGGTCTCTGGCTCCGCACTGTGTTGCGCCAGTGCGCCTGGATTTCCCGTGAGCTTTCGGCCAACCACGCTCCGGGCTTCCCGCCTGGCTCCGCACCTGCGGCGCTCTCACCTGCGGCGGCGCCGCCCGAGGAGCCTCCCAGCCGGCGAGGAGCGAGGCTTCTGCAGTCCTGCTGTCCCGCAGCCCCGCAGCCCCGCAGCCTCGCAGCCCCGCAGCCCCGCAGCCCCGCAGCCCCGCAGCCCCGCAGCCCAGCGCCAGAGCGCTGCGCGGAGACTCCTTGCCGCCGCACGCCCTGGGCCGGTAAGAAGCATCCGCTTCAAATCCCGCCCAGCGGGCAGCGCAAAGCGAGCGGTTTGGGGAAATGCCGAAGGGACCGGGAAAAACAAACTCCAAGTCGAGTTTAACAGCCGAAACGCTCCGTGCCTAGGCCGGCGGACAAGAAGGAGACAGAACAGATCCCTTGGCTCCCTCGCAGCGATCGATCCCGTTTACCGACCAGAGTCACCACCCCGCCCCCAGCCCGCCAACTCATACCTCCCGCAAGCCACCAGTTTCAAGGGATGCGGAAGCCAAGCACCCCGTGGTCCCCAGCACCAGGTGACCCGCACGTGCACTCACCGTAGCAGGGAACCTGCAAGGCCGCGCTGTGGCCGCTGCTGCCTTCCTGGAGTTTGAGGCTGCCGTCCGGGGGCGTCTTGCAGGCGCCTCGCTGCAAGTAAAGATGCGGTTGCGCGGGCGGCTGGGGCTGCGGCTGCTGCTGCTGCGGCTGCGGCTGCGGCGGCGGCTGGGGCTGCGGGGTCGACGGCTGGGGCTGGAACTTGTTAAAGGAGCCCGCGCCCCAGCTCCACTCTCCAGGGGTGTCGCCAGGTCCTGCTGCCCAGCGCCGTAACGGGCCCGGCTCTTGGCGTCCCCGAATCCCTGTGCTTTGGCGGCGGCCGACAGGAAAGTTGTGCCGAACTTGTCGCCTCCGGGAAATGCCCTAAAAGGCGACGAGCCCTCCCGACTCTGCGACACCGGGCTGTAGTAGGCGTCCATGGCAGCGGCCGGCGACTCGCAGTAAGAGACGCAAGTCTCAGCATTCATGCCTGGCTTGCGCAGGCGGCGGGCGGGGACGCGAGCGAGGGCGCGAGGACGCCACCGCGCGCCTTGGCTGGGAGTTTGGGGAGGCGAGGAGGCTGTGGCTGTGCACTCCTTGCCCGGCCTGCTCGCTCTCCCTCCTCCCCTCCACGCCGGCCTCTCTCTCTCTCCCCCTCTTCTTTCTCTGTCTCTCTCCTCTCTCTCCCTCCTCTCTCTCTCTTCCCCTCCCTCCCCCCCCCTTCCTCTCTCTCTCCCTCTCTCTCTTTCCTCCCTCCCCACAGCTAGCCGAGGGAAAGAACGGAGGGCAGTAAAAAGATTCAGATGTTTCGGAAAGTTGACCAGATCTCCCAAACCCTCTTAAGGTTTTGCAGCGGAAAAAAAAAATAAGTAAATTTTTTTCCCTGCCTTGCTTCTTCCTTTCCCCCTCTCTCGTCCCCTCCTCCTCTCTCCTTCCACTGGCCCCTGCCCCCTCCTCTCCACTCTTAAGGAGATGCTACTAACTCGCTAGCGGGGATTCAACCCGGAGGCGCCCGAGGGCTTTTCCGATTCTAGGCGGGGCTGGGGAGATGCCAGGATCCCCAGGGCTCCCGAGGCTAGGCTGAGAATTGGCGGGGTGTCGGAGCTTTGCCTTAGGGCAAAGGGAAATGCAAATTTTAATGACAGGTTAAAAAAAAGCCCCCCAAAATAAACCTAACAGGTTTTGACATTCGAAGCCAGGGGGACCACGGGCCTGCGGATGCAAGCGAGTCCTACGGACTCCTGCGCGCGAGCTCGCGGGCGCCGCTGCGGGCCTTCCCGCTGGCACCTTTTCCTAGGTTTCCAACCTTCCTCCCCATTCCCGTTCCTACGGGAGATTAACACACACACAAGCCTTCGTCGTCCAGTGCATGGTCACTTGCACGTCTTGTTAACTATTTCCCTCTGCTGTAAGGGCGCTGGGCTGGGATGTAGCGGAATCTGTGCTCCCTCAAGCCCTGGAGAAGCCCTGGGCTGGGCCCGGCTTCAGAAGCTTTAGAGCGCTGCCCTCTGCGCTCCCGTCTAGAGGCCGCACCGTTCACGCCCCACGTCTGCGCCCAGGCGAGGGGATTTCCTGCCAGGCGAAGTACAGAGAGCGGACTCTGGAGACCCCCTGACCTTGCCCGATAGTCGCGCTGTCACCTGTTCACTCCTTGGGGTCAGGGGTCGGGGAGAGGGGTGAGACCGTCTCTTCCCTTTCTGGCCTCACTGCCCCCGACTGTAAAACGAACTGCTTGGTTTTGATAGGTTGTGGTTTCACCACCACTGCGAGCCTCAAGGCCCCTGGCACCGCCACAGCAAGGGAAAAAACTTTGCGCGTGCAGCCCCTCGATTTCGCTTCATGACAACCGTGCTAGAGATTGGCGCCCCCAATTTTCTGATGAGCTAACGGAGGCTCAGAGAGGGGCGGCCACCTGGTCCAGGTCACACAGCTGGGAAATAGCCGTCGCGCCCTGGAACCTCTGCTCAGGCTAGTCCCTCCACCGACCTGGAAGGCCGTGCGGACAGCGTAGATGCAGAGGGGAAACTGGCCCCCGGCTGTGGAATGGTTCAAGTTGAAGGAGACCAGCGAGAGCAGCCTTCCTTAAACCGCTGAGAAAATCGTTAAGCGAGAACGTACCTCTAGGGAGTCTGGGAGTAGGGTGAGAGGTAAAAGTGCAAGGTAAAATTAAAGAGGGCCTGAGCACCGTGAACCAAGGAATGTGGGTCAGATGTCAACTTTCTGCATCTAAGGTCTCCCAAAGAAAAAATATACCTGGGGGGTCGCGCTTCTGCTCCCAATCN
pathogenic
174,816
Chromosome 11, position 44310046, gene ALX4 (ALX homeobox 4): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
pathogenic; ['Parietal_foramina_2']
GGGTCTGTGATCTGAATGCCTGATCTCATTCCAACTGGAGGTGAAGAGGAAGGTGGAGGAAGTGGGGAAGGGCCACTGAATCTTTCTAAATCTTCTCTCAGTTCTGTCCTATGGGTTTGGGAGTATGTGGCTCATTCGAGGCCACATGGGCATGTGTTCTTGGGGTATGACCACATCGGCTCCTAAAGAAGATGCTCTCTGCGTGTGTGTGTGTAGAGTGCAATTGTAGACAAGCATATGACTGTGAATGTTTGTCAGCAGCCATCTATGAACTAGTTCTGCGCCTGTGAAAGAAGGAACCTGAATACGAGAAAATATCTGCCATCGGCTGTTTTCCCAAAGTTATTCTAGCCACCAAGGCCTCCGCCGTGTCCCAGCCTCTGTCCCCAGGCCTAGTGCCTCTCCATCAGCCTGGATCAGGGCAAATTCCCTGCCCCCAACTCTTCCCACCAGGGCCGGACCTGAAGGCCAAGGCCTCCGGGTATGTGCTCAGGACTCCTGGCCCAGAGAAGGTTTTTCCCTTTCTGCGTCTTTGCTTCCCCTTCCGCTTTGGGGTTCAGGAACCCCGATTCTCTGGAAGAAGAGAAGGCCTAGGCTACTGAGCTGCTCTGGCTAGAGACGTCCTTGAGTGTCTCTCTCTCCCGGGCAATGGTGGCTGTGCTCTGGGGGGCCCAGGCCTGCCTCCTGTGGCTGCGTTCAAGGCAGCTTGGAGGTCATTTAGGCCAGCTCCCCCGGGTTCCCCGTGGGCTCAAATCAGGACCCAGACCCTTCTCTCTTGCCACAGCTCTGGGCCACCTGGGACTCGGGACTTCCTGTCTCCCTTCCTACTCTGTCCTAAACCATTGTTCAGAGGCCTGCCGCCTCCAAGAATCGCCGAGGGAGAAGCTCCAGGGGAACTGGCCTGCCCGCATCCCCACTGCCAGTAGCGCTCAGGGTCCCAGGACTCGGGTCTTGCCAGACCACAGTGTCCCCTGGGACCCTAGGGTCTCTGGCTCCGCACTGTGTTGCGCCAGTGCGCCTGGATTTCCCGTGAGCTTTCGGCCAACCACGCTCCGGGCTTCCCGCCTGGCTCCGCACCTGCGGCGCTCTCACCTGCGGCGGCGCCGCCCGAGGAGCCTCCCAGCCGGCGAGGAGCGAGGCTTCTGCAGTCCTGCTGTCCCGCAGCCCCGCAGCCCCGCAGCCTCGCAGCCCCGCAGCCCCGCAGCCCCGCAGCCCCGCAGCCCCGCAGCCCAGCGCCAGAGCGCTGCGCGGAGACTCCTTGCCGCCGCACGCCCTGGGCCGGTAAGAAGCATCCGCTTCAAATCCCGCCCAGCGGGCAGCGCAAAGCGAGCGGTTTGGGGAAATGCCGAAGGGACCGGGAAAAACAAACTCCAAGTCGAGTTTAACAGCCGAAACGCTCCGTGCCTAGGCCGGCGGACAAGAAGGAGACAGAACAGATCCCTTGGCTCCCTCGCAGCGATCGATCCCGTTTACCGACCAGAGTCACCACCCCGCCCCCAGCCCGCCAACTCATACCTCCCGCAAGCCACCAGTTTCAAGGGATGCGGAAGCCAAGCACCCCGTGGTCCCCAGCACCAGGTGACCCGCACGTGCACTCACCGTAGCAGGGAACCTGCAAGGCCGCGCTGTGGCCGCTGCTGCCTTCCTGGAGTTTGAGGCTGCCGTCCGGGGGCGTCTTGCAGGCGCCTCGCTGCAAGTAAAGATGCGGTTGCGCGGGCGGCTGGGGCTGCGGCTGCTGCTGCTGCGGCTGCGGCTGCGGCGGCGGCTGGGGCTGCGGGGTCGACGGCTGGGGCTGGAACTTGTTAAAGGAGCCCCGCGCCCCAGCTCCACTCTCCAGGGGTGTCGCCAGGTCCTGCTGCCCAGCGCCGTAACGGGCCCGGCTCTTGGCGTCCCCGAATCCCTGTGCTTTGGCGGCGGCCGACAGGAAAGTTGTGCCGAACTTGTCGCCTCCGGGAAATGCCCTAAAAGGCGACGAGCCCTCCCGACTCTGCGACACCGGGCTGTAGTAGGCGTCCATGGCAGCGGCCGGCGACTCGCAGTAAGAGACGCAAGTCTCAGCATTCATGCCTGGCTTGCGCAGGCGGCGGGCGGGGACGCGAGCGAGGGCGCGAGGACGCCACCGCGCGCCTTGGCTGGGAGTTTGGGGAGGCGAGGAGGCTGTGGCTGTGCACTCCTTGCCCGGCCTGCTCGCTCTCCCTCCTCCCCTCCACGCCGGCCTCTCTCTCTCTCCCCCTCTTCTTTCTCTGTCTCTCTCCTCTCTCTCCCTCCTCTCTCTCTCTTCCCCTCCCTCCCCCCCCCTTCCTCTCTCTCTCCCTCTCTCTCTTTCCTCCCTCCCCACAGCTAGCCGAGGGAAAGAACGGAGGGCAGTAAAAAGATTCAGATGTTTCGGAAAGTTGACCAGATCTCCCAAACCCTCTTAAGGTTTTGCAGCGGAAAAAAAAAATAAGTAAATTTTTTTCCCTGCCTTGCTTCTTCCTTTCCCCCTCTCTCGTCCCCTCCTCCTCTCTCCTTCCACTGGCCCCTGCCCCCTCCTCTCCACTCTTAAGGAGATGCTACTAACTCGCTAGCGGGGATTCAACCCGGAGGCGCCCGAGGGCTTTTCCGATTCTAGGCGGGGCTGGGGAGATGCCAGGATCCCCAGGGCTCCCGAGGCTAGGCTGAGAATTGGCGGGGTGTCGGAGCTTTGCCTTAGGGCAAAGGGAAATGCAAATTTTAATGACAGGTTAAAAAAAAGCCCCCCAAAATAAACCTAACAGGTTTTGACATTCGAAGCCAGGGGGACCACGGGCCTGCGGATGCAAGCGAGTCCTACGGACTCCTGCGCGCGAGCTCGCGGGCGCCGCTGCGGGCCTTCCCGCTGGCACCTTTTCCTAGGTTTCCAACCTTCCTCCCCATTCCCGTTCCTACGGGAGATTAACACACACACAAGCCTTCGTCGTCCAGTGCATGGTCACTTGCACGTCTTGTTAACTATTTCCCTCTGCTGTAAGGGCGCTGGGCTGGGATGTAGCGGAATCTGTGCTCCCTCAAGCCCTGGAGAAGCCCTGGGCTGGGCCCGGCTTCAGAAGCTTTAGAGCGCTGCCCTCTGCGCTCCCGTCTAGAGGCCGCACCGTTCACGCCCCACGTCTGCGCCCAGGCGAGGGGATTTCCTGCCAGGCGAAGTACAGAGAGCGGACTCTGGAGACCCCCTGACCTTGCCCGATAGTCGCGCTGTCACCTGTTCACTCCTTGGGGTCAGGGGTCGGGGAGAGGGGTGAGACCGTCTCTTCCCTTTCTGGCCTCACTGCCCCCGACTGTAAAACGAACTGCTTGGTTTTGATAGGTTGTGGTTTCACCACCACTGCGAGCCTCAAGGCCCCTGGCACCGCCACAGCAAGGGAAAAAACTTTGCGCGTGCAGCCCCTCGATTTCGCTTCATGACAACCGTGCTAGAGATTGGCGCCCCCAATTTTCTGATGAGCTAACGGAGGCTCAGAGAGGGGCGGCCACCTGGTCCAGGTCACACAGCTGGGAAATAGCCGTCGCGCCCTGGAACCTCTGCTCAGGCTAGTCCCTCCACCGACCTGGAAGGCCGTGCGGACAGCGTAGATGCAGAGGGGAAACTGGCCCCCGGCTGTGGAATGGTTCAAGTTGAAGGAGACCAGCGAGAGCAGCCTTCCTTAAACCGCTGAGAAAATCGTTAAGCGAGAACGTACCTCTAGGGAGTCTGGGAGTAGGGTGAGAGGTAAAAGTGCAAGGTAAAATTAAAGAGGGCCTGAGCACCGTGAACCAAGGAATGTGGGTCAGATGTCAACTTTCTGCATCTAAGGTCTCCCAAAGAAAAAATATACCTGGGGGGTCGCGCTTCTGCTCCCAATCTCATCTGGGCTAATTCTTACCCCCACCCTACCCCCTTAGTATCTCTGGTCCTTGCTCCGCCGCCGACCGCGCGATCCCACATCTGGTTTCCATCGCCGGCTTACCTTGAAGTGCTCGTTAATAAAGATATTCCGCAAACCAAGCCAGGAGCGCGCAGGCTCCAGCCGCCCCCCACTCCATGCCCAATGGGAACCGCGCCTCACTGGCCCGCAGACCTAAGCCACTTGAGAGTCCTTTA
GGGTCTGTGATCTGAATGCCTGATCTCATTCCAACTGGAGGTGAAGAGGAAGGTGGAGGAAGTGGGGAAGGGCCACTGAATCTTTCTAAATCTTCTCTCAGTTCTGTCCTATGGGTTTGGGAGTATGTGGCTCATTCGAGGCCACATGGGCATGTGTTCTTGGGGTATGACCACATCGGCTCCTAAAGAAGATGCTCTCTGCGTGTGTGTGTGTAGAGTGCAATTGTAGACAAGCATATGACTGTGAATGTTTGTCAGCAGCCATCTATGAACTAGTTCTGCGCCTGTGAAAGAAGGAACCTGAATACGAGAAAATATCTGCCATCGGCTGTTTTCCCAAAGTTATTCTAGCCACCAAGGCCTCCGCCGTGTCCCAGCCTCTGTCCCCAGGCCTAGTGCCTCTCCATCAGCCTGGATCAGGGCAAATTCCCTGCCCCCAACTCTTCCCACCAGGGCCGGACCTGAAGGCCAAGGCCTCCGGGTATGTGCTCAGGACTCCTGGCCCAGAGAAGGTTTTTCCCTTTCTGCGTCTTTGCTTCCCCTTCCGCTTTGGGGTTCAGGAACCCCGATTCTCTGGAAGAAGAGAAGGCCTAGGCTACTGAGCTGCTCTGGCTAGAGACGTCCTTGAGTGTCTCTCTCTCCCGGGCAATGGTGGCTGTGCTCTGGGGGGCCCAGGCCTGCCTCCTGTGGCTGCGTTCAAGGCAGCTTGGAGGTCATTTAGGCCAGCTCCCCCGGGTTCCCCGTGGGCTCAAATCAGGACCCAGACCCTTCTCTCTTGCCACAGCTCTGGGCCACCTGGGACTCGGGACTTCCTGTCTCCCTTCCTACTCTGTCCTAAACCATTGTTCAGAGGCCTGCCGCCTCCAAGAATCGCCGAGGGAGAAGCTCCAGGGGAACTGGCCTGCCCGCATCCCCACTGCCAGTAGCGCTCAGGGTCCCAGGACTCGGGTCTTGCCAGACCACAGTGTCCCCTGGGACCCTAGGGTCTCTGGCTCCGCACTGTGTTGCGCCAGTGCGCCTGGATTTCCCGTGAGCTTTCGGCCAACCACGCTCCGGGCTTCCCGCCTGGCTCCGCACCTGCGGCGCTCTCACCTGCGGCGGCGCCGCCCGAGGAGCCTCCCAGCCGGCGAGGAGCGAGGCTTCTGCAGTCCTGCTGTCCCGCAGCCCCGCAGCCCCGCAGCCTCGCAGCCCCGCAGCCCCGCAGCCCCGCAGCCCCGCAGCCCCGCAGCCCAGCGCCAGAGCGCTGCGCGGAGACTCCTTGCCGCCGCACGCCCTGGGCCGGTAAGAAGCATCCGCTTCAAATCCCGCCCAGCGGGCAGCGCAAAGCGAGCGGTTTGGGGAAATGCCGAAGGGACCGGGAAAAACAAACTCCAAGTCGAGTTTAACAGCCGAAACGCTCCGTGCCTAGGCCGGCGGACAAGAAGGAGACAGAACAGATCCCTTGGCTCCCTCGCAGCGATCGATCCCGTTTACCGACCAGAGTCACCACCCCGCCCCCAGCCCGCCAACTCATACCTCCCGCAAGCCACCAGTTTCAAGGGATGCGGAAGCCAAGCACCCCGTGGTCCCCAGCACCAGGTGACCCGCACGTGCACTCACCGTAGCAGGGAACCTGCAAGGCCGCGCTGTGGCCGCTGCTGCCTTCCTGGAGTTTGAGGCTGCCGTCCGGGGGCGTCTTGCAGGCGCCTCGCTGCAAGTAAAGATGCGGTTGCGCGGGCGGCTGGGGCTGCGGCTGCTGCTGCTGCGGCTGCGGCTGCGGCGGCGGCTGGGGCTGCGGGGTCGACGGCTGGGGCTGGAACTTGTTAAAGGAGCCCCGCGCCCCAGCTCCACTCTCCAGGGGTGTCGCCAGGTCCTGCTGCCCAGCGCCGTAACGGGCCCGGCTCTTGGCGTCCCCGAATCCCTGTGCTTTGGCGGCGGCCGACAGGAAAGTTGTGCCGAACTTGTCGCCTCCGGGAAATGCCCTAAAAGGCGACGAGCCCTCCCGACTCTGCGACACCGGGCTGTAGTAGGCGTCCATGGCAGCGGCCGGCGACTCGCAGTAAGAGACGCAAAGTCTCAGCATTCATGCCTGGCTTGCGCAGGCGGCGGGCGGGGACGCGAGCGAGGGCGCGAGGACGCCACCGCGCGCCTTGGCTGGGAGTTTGGGGAGGCGAGGAGGCTGTGGCTGTGCACTCCTTGCCCGGCCTGCTCGCTCTCCCTCCTCCCCTCCACGCCGGCCTCTCTCTCTCTCCCCCTCTTCTTTCTCTGTCTCTCTCCTCTCTCTCCCTCCTCTCTCTCTCTTCCCCTCCCTCCCCCCCCCTTCCTCTCTCTCTCCCTCTCTCTCTTTCCTCCCTCCCCACAGCTAGCCGAGGGAAAGAACGGAGGGCAGTAAAAAGATTCAGATGTTTCGGAAAGTTGACCAGATCTCCCAAACCCTCTTAAGGTTTTGCAGCGGAAAAAAAAAATAAGTAAATTTTTTTCCCTGCCTTGCTTCTTCCTTTCCCCCTCTCTCGTCCCCTCCTCCTCTCTCCTTCCACTGGCCCCTGCCCCCTCCTCTCCACTCTTAAGGAGATGCTACTAACTCGCTAGCGGGGATTCAACCCGGAGGCGCCCGAGGGCTTTTCCGATTCTAGGCGGGGCTGGGGAGATGCCAGGATCCCCAGGGCTCCCGAGGCTAGGCTGAGAATTGGCGGGGTGTCGGAGCTTTGCCTTAGGGCAAAGGGAAATGCAAATTTTAATGACAGGTTAAAAAAAAGCCCCCCAAAATAAACCTAACAGGTTTTGACATTCGAAGCCAGGGGGACCACGGGCCTGCGGATGCAAGCGAGTCCTACGGACTCCTGCGCGCGAGCTCGCGGGCGCCGCTGCGGGCCTTCCCGCTGGCACCTTTTCCTAGGTTTCCAACCTTCCTCCCCATTCCCGTTCCTACGGGAGATTAACACACACACAAGCCTTCGTCGTCCAGTGCATGGTCACTTGCACGTCTTGTTAACTATTTCCCTCTGCTGTAAGGGCGCTGGGCTGGGATGTAGCGGAATCTGTGCTCCCTCAAGCCCTGGAGAAGCCCTGGGCTGGGCCCGGCTTCAGAAGCTTTAGAGCGCTGCCCTCTGCGCTCCCGTCTAGAGGCCGCACCGTTCACGCCCCACGTCTGCGCCCAGGCGAGGGGATTTCCTGCCAGGCGAAGTACAGAGAGCGGACTCTGGAGACCCCCTGACCTTGCCCGATAGTCGCGCTGTCACCTGTTCACTCCTTGGGGTCAGGGGTCGGGGAGAGGGGTGAGACCGTCTCTTCCCTTTCTGGCCTCACTGCCCCCGACTGTAAAACGAACTGCTTGGTTTTGATAGGTTGTGGTTTCACCACCACTGCGAGCCTCAAGGCCCCTGGCACCGCCACAGCAAGGGAAAAAACTTTGCGCGTGCAGCCCCTCGATTTCGCTTCATGACAACCGTGCTAGAGATTGGCGCCCCCAATTTTCTGATGAGCTAACGGAGGCTCAGAGAGGGGCGGCCACCTGGTCCAGGTCACACAGCTGGGAAATAGCCGTCGCGCCCTGGAACCTCTGCTCAGGCTAGTCCCTCCACCGACCTGGAAGGCCGTGCGGACAGCGTAGATGCAGAGGGGAAACTGGCCCCCGGCTGTGGAATGGTTCAAGTTGAAGGAGACCAGCGAGAGCAGCCTTCCTTAAACCGCTGAGAAAATCGTTAAGCGAGAACGTACCTCTAGGGAGTCTGGGAGTAGGGTGAGAGGTAAAAGTGCAAGGTAAAATTAAAGAGGGCCTGAGCACCGTGAACCAAGGAATGTGGGTCAGATGTCAACTTTCTGCATCTAAGGTCTCCCAAAGAAAAAATATACCTGGGGGGTCGCGCTTCTGCTCCCAATCTCATCTGGGCTAATTCTTACCCCCACCCTACCCCCTTAGTATCTCTGGTCCTTGCTCCGCCGCCGACCGCGCGATCCCACATCTGGTTTCCATCGCCGGCTTACCTTGAAGTGCTCGTTAATAAAGATATTCCGCAAACCAAGCCAGGAGCGCGCAGGCTCCAGCCGCCCCCCACTCCATGCCCAATGGGAACCGCGCCTCACTGGCCCGCAGACCTAAGCCACTTGAGAGTCCTTT
pathogenic
174,821
The genetic variant at chromosome 11, position 45934055, affecting gene PHF21A (PHD finger protein 21A): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Intellectual_developmental_disorder_with_behavioral_abnormalities_and_craniofacial_dysmorphism_with_or_without_seizures']
AGGCAGAGAAAGGAGTGGGAGCTTCAGACCTCTCCCCAAAGGCAAGACAGAGCGAAGGCCACGCTGGGGCTCTGTCTCAGAGACGTACCCTCAAAACATGTCACTCCTCCTCTGTTCTAAGCACCAAGGGCTGATGCAGCCAGCCTGTACTCCCGCACCCTCCTGTCACGGCCAGGGTGCGTGCGCACCACAGAGCTCCGCTGGCCAGTTCCCTCGGAGGTGTCCCCCAGGCACTCATAATGCTGGTGGCTGAAAGACCAAAAGCAGCACCAAAGGAAGGGATCTTATTTAGGCACCAGCCTTTTGCTCTAGCAGAATCTGAGAAGACCACGGGTAGGGCCCTGATACCATCCACGCTTCCATTTGGGCTTCACAACAGGAGACAAGATCCCTGCACCAAGAAGAGAGCACGGTCTTTTCTGAGGAGAGAGAAGGGTGGGGAGCTCCGCCTCTGTCCTTCAAGGAGACTGGCCCACCAGTCTAGAGACACACACACGGCAAAATGTCATCGTGATCAGCAGGGTCTGTGCTAAAAAATTATAACTACACGGCATTTTCTCCAGTTCTGACACCTTTTTAATAGAAATCACTGTTTTTAGGAAACAAATAGCACTTTTGTAATTTTTTTTTACAATGTTTCTTACCTTGATCTTAATTTAAGTAACACTAGGAAGACCTCAATATCTTTTATTTTCCTTTTTAATTTAAAAAAAAGTTTTTTTTCCCCAGATACAAAGATTTTTGCCCTTGCATAAAAAAACAGTGCCCGAACGATGACACAAGGACTCACAAAGACTCACGGGACCTCACTGACACTATGATTCCTACTCTACCATGCAAGGTCTTGGCTACCCTTAATTGGACTGTCAGCCTGAAAAACAGCTTTTCTATTCCTTATTTTAGTTTTTGTTACCAAGAAAGTAAAATGAACAGTAAAATAAAACTTTCCTTAAAGAAAAAAAGAACAAAAACAAAAATTAAAGAAAGAGAAAAGAAACGTCTCCATTCAATTCACACACACCTGGGTCGCGTGCTGCTTCACTCAAGATCTTCTCTTCTTATAAATATAGAAAAGGGATGGAGCTTGTTTTCAAGTAAAATCACTGATCCACCTTTTTTTCCTTCCTGGACACACACATCCTTCTTCCCTGCCTTGGGCAAGGGCCAGTGGCCCGGGCTCTGCTTGTTCTTGGAGAGGAGACAGCGGGATAACCACGGAGATGCGCGACTCACCAAGCAGGGAAGGAAGGAGACTGGGCAGGCTTCAGGAGTGGTGGGGTTACCGCGCAGGGAGCAGAGTGCAGGGGAGAAGAACCTACTGGCTGTTCTTGGTGTCAGTCTCCCCTTGCACGAGGCCCCCGCCAGAGGTGATTAAATACTGCTTATTTGATACACTGTCCCACCCCCTGCTCCCTCCAGCCACTCCCCTTCCCTCTTCTGGGCACTGGGGTTGGTGAAATCTCAATTCCTTTTTTTGGTTTTATAGTAGCGAAAGTTTAGAAACAGGAAAGCCCACACACTCTTTGGACTTGTCTTCTCTACCTAAACAAACGGCTCGGCAAGTAAGGATCTGAAACCTGCTCTCCTCCCTCCGCCCGTCCCTGCTCCCCACCCAAGAAAACAGAAACAAACCCATCGTGGCTGTGGAGGCTGCTGCAGGCACACACTGGTGTATAATAGAGAGAGTAAATATATTATTTCACTTGGCATGGTGCTGGCAAAGAACCTCCAGCTGGCACTATTTCATGTAACATGGTCCAATCTTTGCATGTACACACAGAATAAGAAGGATCAATTGGCAAACTCTGGTGCCACCTGGCACAAGCATCTTCTCTCTCTCTGGAACCAAAGAACCAAAAGAATTCTGCACTTTCCAGAAATCCGGCTTTGCTTTTCTAGAGTCTTCAGTGTTCTGTTCTCCTTGCCGCCGGGATCCCGTGGCTTCTCCTAGAGGGGCTCTGTTATTTAGTCTCTTCCCCCTGGTTACAGTTCGCTGTGCAGCTCTGGGAGGAGGGGGAAGGGGCCGGCGTGGAGGTGGCGGCATTGGCAGGGGGGGTGCAGTCCGGGCCATTGGAGATGGCCCCCACAGTGGCCTCAGAGTCTACAGGTTTGGAGAGGTCGATGCCGTGGATGAGGCGAATCAGCTGTTTTACCTTCTCCAGGGAGCTGTGCATCTCCTTCTGCCGGGCCAGGATGGTGTTCTTCATTTCCATGCATTTCTGCAGCAAATGACAAGGGCAGTGGCACTGAGCCGCCTGGTTTCTAACAGGCCTGGCAGCCCCTAAGAGCAGAGCGCCTTCTCTCTGCCCAGGGAGAAGAAGCTCTGCTGGCTGCTGTGCAGCCCCTGGGCCTTGCTGTGTTCCTCAGTGGAGTGGGCGGCTACCACCTAAGGAACAGGGCGGGTGGAGTGGGTAGGCTGGGGGGTCCCAGGTCCCAGAGGCAACAGAGGGAGAAAGAGCATGCGGGCACCAACACACAGGAGTACTAACGCTTAAAAACAAACCGGCAGAGCCGCCATCAGACTTCCAAACAAAGGTTGTTTAAAAAAAAAAAAAAAGTTCCCACAGCTGTCCTGCAGCCTGTTTAGGCAGGTTTTGATATGCTTCTGTCATGCTAACTGGGGAGCCTTCAGGACTGGACTGAGCTCTCCAGGGTGGAAAACACACAGTGCTATCTGGATTCCATCTGAGGGCAGCAGGAAGTGAGACGACAGGCCAGCAGCATTTAGGAGGATCGAAGCCCCAAGGACAAAGGCCTGCAGCCAGTACACCTTCTGCTCAGCCGGGGACTTAGAGTCTTTTGCCCTTTTGCCCTCAGCTTCCCACACCTGCTGGCTTCTATTTTAGGCAGGGAAAGAGAGGAAAGAGGTGTTAAATCTGCATGCCATGGGTAGGTATGGTGAGGAGGAGAAAGCAGGTAAGCAGGACAGTTCAACTGCCACCAAGTACAAGGCACCACCTGGTATCCATGAGGGCTGAGGTCACTTCACTCCAACAAGGGTGACCTACTCAATGGAAAAGAAGACTGGCTCCTTGCCTGGGAGAAGCCTCTGTCCCCCTGCTGCAAATACAACCCTCTTTCCCACTTGGACAGGCCGGGCTGGGCAGTACTTACTTCCAATACTTGTCTCTAGAAAGCCCGCTTCCTCACACTGGTCAGGAAAACCGGGAAATGCAATCAGCATGGTGTGGAAGAAAGAGCGAGGGAGGGCCGTACGGATGGGCCCACTCGCTCAGGTGACTAGGAAGAATCACACGAGGGGACCTGGTCTGTGTCTGCTCAGTGTCAGGTGAGGCGCTACACTCCCCCCACACACTGTCAGGAATACGCAGGGCCATGGCTACACTGTTGTAGCTGTTACTTATTCAGCCTGAAGACTGAAAATCCTCTCTCTGATTAAAGCCAAGAGGATGTTACAGAGCTTGGGTAAGGCACCACCTACCAACTGGCCGCCTGTACCTGAGGTCTGAACTCTAACTGGATGGCAAACTGCATTTGCCCAAGTTAATCACGTTAATAAACAGAAGGACCCGAAACAGCCTGGGGCCCACACGTACTGTTACGTATATTGGAAAGGCCTAGGTCTCTGCACCTATGTATCGACTGCTGAAGGCATGAGGTTTACTTACACTTATGGAATTGCTGAGCTGTTTCACCTTTTGCTCTAGTTGTTCTCGTTCTTGTTTTAAATCTGAACTCCATTTAAGTAACTTCTGTTTCTCTTCTTCTTTTGCTAAAAAAAAAAAAAAAAAAAAAAAGGAACGGTTTTTGACAATTAATTCTTTGAAATGTCCTCTGTGCTCAGAATGCCTGCCAAAGAAGGTATTTTCCCCAGAGCTCCCATGAGTCCTACAACCCAGTGCAGAGAATCTGCCCACCTGGACTTTTCCTTTTTCTGTGTACAGTATGCTAAAACTGTCAGTGGCTTGGGTCTGGCTTTACATAAATGAGATACCACATCTCATTTTCTTCCCCCAAGAAGTGCTACAGTCCAGGCATGATGGCTCATGCCTGTACTCCTAGGACTTTGGGAGGCCAAGGCAGGTGAATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGTGACATGGCGAAA
AGGCAGAGAAAGGAGTGGGAGCTTCAGACCTCTCCCCAAAGGCAAGACAGAGCGAAGGCCACGCTGGGGCTCTGTCTCAGAGACGTACCCTCAAAACATGTCACTCCTCCTCTGTTCTAAGCACCAAGGGCTGATGCAGCCAGCCTGTACTCCCGCACCCTCCTGTCACGGCCAGGGTGCGTGCGCACCACAGAGCTCCGCTGGCCAGTTCCCTCGGAGGTGTCCCCCAGGCACTCATAATGCTGGTGGCTGAAAGACCAAAAGCAGCACCAAAGGAAGGGATCTTATTTAGGCACCAGCCTTTTGCTCTAGCAGAATCTGAGAAGACCACGGGTAGGGCCCTGATACCATCCACGCTTCCATTTGGGCTTCACAACAGGAGACAAGATCCCTGCACCAAGAAGAGAGCACGGTCTTTTCTGAGGAGAGAGAAGGGTGGGGAGCTCCGCCTCTGTCCTTCAAGGAGACTGGCCCACCAGTCTAGAGACACACACACGGCAAAATGTCATCGTGATCAGCAGGGTCTGTGCTAAAAAATTATAACTACACGGCATTTTCTCCAGTTCTGACACCTTTTTAATAGAAATCACTGTTTTTAGGAAACAAATAGCACTTTTGTAATTTTTTTTTACAATGTTTCTTACCTTGATCTTAATTTAAGTAACACTAGGAAGACCTCAATATCTTTTATTTTCCTTTTTAATTTAAAAAAAAGTTTTTTTTCCCCAGATACAAAGATTTTTGCCCTTGCATAAAAAAACAGTGCCCGAACGATGACACAAGGACTCACAAAGACTCACGGGACCTCACTGACACTATGATTCCTACTCTACCATGCAAGGTCTTGGCTACCCTTAATTGGACTGTCAGCCTGAAAAACAGCTTTTCTATTCCTTATTTTAGTTTTTGTTACCAAGAAAGTAAAATGAACAGTAAAATAAAACTTTCCTTAAAGAAAAAAAGAACAAAAACAAAAATTAAAGAAAGAGAAAAGAAACGTCTCCATTCAATTCACACACACCTGGGTCGCGTGCTGCTTCACTCAAGATCTTCTCTTCTTATAAATATAGAAAAGGGATGGAGCTTGTTTTCAAGTAAAATCACTGATCCACCTTTTTTTCCTTCCTGGACACACACATCCTTCTTCCCTGCCTTGGGCAAGGGCCAGTGGCCCGGGCTCTGCTTGTTCTTGGAGAGGAGACAGCGGGATAACCACGGAGATGCGCGACTCACCAAGCAGGGAAGGAAGGAGACTGGGCAGGCTTCAGGAGTGGTGGGGTTACCGCGCAGGGAGCAGAGTGCAGGGGAGAAGAACCTACTGGCTGTTCTTGGTGTCAGTCTCCCCTTGCACGAGGCCCCCGCCAGAGGTGATTAAATACTGCTTATTTGATACACTGTCCCACCCCCTGCTCCCTCCAGCCACTCCCCTTCCCTCTTCTGGGCACTGGGGTTGGTGAAATCTCAATTCCTTTTTTTGGTTTTATAGTAGCGAAAGTTTAGAAACAGGAAAGCCCACACACTCTTTGGACTTGTCTTCTCTACCTAAACAAACGGCTCGGCAAGTAAGGATCTGAAACCTGCTCTCCTCCCTCCGCCCGTCCCTGCTCCCCACCCAAGAAAACAGAAACAAACCCATCGTGGCTGTGGAGGCTGCTGCAGGCACACACTGGTGTATAATAGAGAGAGTAAATATATTATTTCACTTGGCATGGTGCTGGCAAAGAACCTCCAGCTGGCACTATTTCATGTAACATGGTCCAATCTTTGCATGTACACACAGAATAAGAAGGATCAATTGGCAAACTCTGGTGCCACCTGGCACAAGCATCTTCTCTCTCTCTGGAACCAAAGAACCAAAAGAATTCTGCACTTTCCAGAAATCCGGCTTTGCTTTTCTAGAGTCTTCAGTGTTCTGTTCTCCTTGCCGCCGGGATCCCGTGGCTTCTCCTAGAGGGGCTCTGTTATTTAGTCTCTTCCCCCTGGTTACAGTTCGCTGTGCAGCTCTGGGAGGAGGGGGAAGGGGCCGGCGTGGAGGTGGCGGCATTGGCAGGGGGGTGCAGTCCGGGCCATTGGAGATGGCCCCCACAGTGGCCTCAGAGTCTACAGGTTTGGAGAGGTCGATGCCGTGGATGAGGCGAATCAGCTGTTTTACCTTCTCCAGGGAGCTGTGCATCTCCTTCTGCCGGGCCAGGATGGTGTTCTTCATTTCCATGCATTTCTGCAGCAAATGACAAGGGCAGTGGCACTGAGCCGCCTGGTTTCTAACAGGCCTGGCAGCCCCTAAGAGCAGAGCGCCTTCTCTCTGCCCAGGGAGAAGAAGCTCTGCTGGCTGCTGTGCAGCCCCTGGGCCTTGCTGTGTTCCTCAGTGGAGTGGGCGGCTACCACCTAAGGAACAGGGCGGGTGGAGTGGGTAGGCTGGGGGGTCCCAGGTCCCAGAGGCAACAGAGGGAGAAAGAGCATGCGGGCACCAACACACAGGAGTACTAACGCTTAAAAACAAACCGGCAGAGCCGCCATCAGACTTCCAAACAAAGGTTGTTTAAAAAAAAAAAAAAAGTTCCCACAGCTGTCCTGCAGCCTGTTTAGGCAGGTTTTGATATGCTTCTGTCATGCTAACTGGGGAGCCTTCAGGACTGGACTGAGCTCTCCAGGGTGGAAAACACACAGTGCTATCTGGATTCCATCTGAGGGCAGCAGGAAGTGAGACGACAGGCCAGCAGCATTTAGGAGGATCGAAGCCCCAAGGACAAAGGCCTGCAGCCAGTACACCTTCTGCTCAGCCGGGGACTTAGAGTCTTTTGCCCTTTTGCCCTCAGCTTCCCACACCTGCTGGCTTCTATTTTAGGCAGGGAAAGAGAGGAAAGAGGTGTTAAATCTGCATGCCATGGGTAGGTATGGTGAGGAGGAGAAAGCAGGTAAGCAGGACAGTTCAACTGCCACCAAGTACAAGGCACCACCTGGTATCCATGAGGGCTGAGGTCACTTCACTCCAACAAGGGTGACCTACTCAATGGAAAAGAAGACTGGCTCCTTGCCTGGGAGAAGCCTCTGTCCCCCTGCTGCAAATACAACCCTCTTTCCCACTTGGACAGGCCGGGCTGGGCAGTACTTACTTCCAATACTTGTCTCTAGAAAGCCCGCTTCCTCACACTGGTCAGGAAAACCGGGAAATGCAATCAGCATGGTGTGGAAGAAAGAGCGAGGGAGGGCCGTACGGATGGGCCCACTCGCTCAGGTGACTAGGAAGAATCACACGAGGGGACCTGGTCTGTGTCTGCTCAGTGTCAGGTGAGGCGCTACACTCCCCCCACACACTGTCAGGAATACGCAGGGCCATGGCTACACTGTTGTAGCTGTTACTTATTCAGCCTGAAGACTGAAAATCCTCTCTCTGATTAAAGCCAAGAGGATGTTACAGAGCTTGGGTAAGGCACCACCTACCAACTGGCCGCCTGTACCTGAGGTCTGAACTCTAACTGGATGGCAAACTGCATTTGCCCAAGTTAATCACGTTAATAAACAGAAGGACCCGAAACAGCCTGGGGCCCACACGTACTGTTACGTATATTGGAAAGGCCTAGGTCTCTGCACCTATGTATCGACTGCTGAAGGCATGAGGTTTACTTACACTTATGGAATTGCTGAGCTGTTTCACCTTTTGCTCTAGTTGTTCTCGTTCTTGTTTTAAATCTGAACTCCATTTAAGTAACTTCTGTTTCTCTTCTTCTTTTGCTAAAAAAAAAAAAAAAAAAAAAAAGGAACGGTTTTTGACAATTAATTCTTTGAAATGTCCTCTGTGCTCAGAATGCCTGCCAAAGAAGGTATTTTCCCCAGAGCTCCCATGAGTCCTACAACCCAGTGCAGAGAATCTGCCCACCTGGACTTTTCCTTTTTCTGTGTACAGTATGCTAAAACTGTCAGTGGCTTGGGTCTGGCTTTACATAAATGAGATACCACATCTCATTTTCTTCCCCCAAGAAGTGCTACAGTCCAGGCATGATGGCTCATGCCTGTACTCCTAGGACTTTGGGAGGCCAAGGCAGGTGAATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGTGACATGGCGAAAN
pathogenic
174,891
Chromosome 11, position 45953586, gene PHF21A (PHD finger protein 21A): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
pathogenic; ['Inborn_genetic_diseases', 'Intellectual_developmental_disorder_with_behavioral_abnormalities_and_craniofacial_dysmorphism_with_or_without_seizures']
TGTATGTTGAAATGACATACACTTTGTGGTTGCCAACTAACTACATTCCTAATTTTCACTATTCCTTAGAAATATAATCAAGATCAAGAGGCTTTCCCCTAACTGTTGTTCTTTTGATGAAGCAGTGTGTGGACTGATATTCAGATGCACCCTCTTTTAAGCAAGTAACAGCACCCTTATTGGCCACTCACACCCAAATCATCTTTGCCAGTTTAGATCAAGCTCATAAAATAATTAAGTGAAAAAAAATGTCCTCTCTTGTGGAATAAATTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTCACCCAGGCTGCAATACAGTGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCTATTCTCCAGCCTCAGCCTCCCGAGTACCTGGGACTATAGGCACGCGCCACTGCATCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATTGGCCGGGCTGGTCTCAAACTCCTGACCTCAGGTGGTCCGCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTAAATTTTTGATGATAGAATAAAAAGCTGTCAAAAACTTTTACCTCATATATGTATCCCACATATGCCAAGAGCAATTTACTTTGTTTATGGCAGTGATTCTGTCCAACTAGAAGGTGAACTATATGCTACTACACATGATGGTACTTGCTTGCCCACACTGGGTCTAGCTCCATCACCTAGGCTGGAGTGCAGTGGCACCATCTCAGCTCGCTGCAGCCTAGACCTCCCGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGGGTAGCTGGGACTACAGACATGTGCTGCCACACCTGGCTAATTTTGTTTATTTTTTGCAGAAACAAGGTCTCACTATGTTTGCCCAGGCTGGATCCTTCAGTTTCCTTTGATAGGGAAATTTTGCTCAATTTTTCCTTCTCAGAGCATAATACTTGTCATTAATTCTGTGGATGATTTCACAAGTTCCTCAGCAATTTTTGTGACTAGTACTTCTTTTTGGCTTAAGTTTTGGTCCTCTTTTTCAAGATAAAATTAAAAATTCATTCATTTCATATCAGAAAGAATTACATTTCGTACTTGTTTTAGGAAACCTGAACTGGCTCAATAAATCACTGCTTTAAAAAAATGGCATGAAGCTTTGATGGCTTTATGCCACTATTTCACATGGTTTCATTATGAAGAAAGCACTAAGGATAGGGGCAAGAGAATTACTGGCCAAATGAAATCTGTCAGATATTCATCATCATATTACCTGTCTACATTTTCCATTTATAGCTGCTTATGCAAAAACATCAAACTGAAAAAATTTGCTTGTCTAAGGACATACAGATTCACATTCTACATTTTTATCAGGGTCTTCTTTGCTATTTATGTTTATAATTCTATCCTAAATTATAGTATAGATGTTACTATTTTCATCCCTACTTTTATGCTTCAATGGATTACTTCTGAGCTACTGATTCATTTGGGGTTTGGGGTTCTAATGTAATACAATGGTTGTAACAAAAACGCACACTTAACAACTGCAATTGATAATATAAATACACATTAGCTGAGTGAACTAGATATCTTATAAATGTTGGCTGAGACAAACAGAACACAGTAATGATTAGGAATGTAATGGGACAGCTGGGAAAATCATCGCTCATCTTAACATTTCAAATTTGTAACATGCATATGAAGAATAACATTTTAAAAAACTTTTCCTTTGATACAATCAAAATGCCTATGTACTAGTGCATGGACCCTCAAGACTACAGTCTAAGAATTCCACTCTAGACCAATCTGACTTGGCAATAACATTGCTGAATAATAAAAGTGCATAAGAAAATGAACATCGAGTTCATTTCATCATTCAGAGAGCAGGTGCCCCTCCTGGTACATGAGAATAAACCATACACCATAGACTGAGACCTGCCTTTGGAAACATAGGCCTACCTGAGGGTTCTCCTCCCGTTTTGGTTTGGGTGCAGCAGGTGGGGTGATGGTGCGGCTCTCTGTTTGTTTCTCATCTGTTTCTGTGTGAGATTTAACTGTCTAGGAGAGAAAAATTAAATAAAAATTCAGAATTCGTTTTTTATTAAAAGGATGAAGCAATCAGAAGTTTAATAGTAGTAGTCAAGAAGAAAGAAGACAACATATTCAAATGTGGAACATATTAATAAAAAGGTTAGTATTATAGATTTCATTGGGGGAGGGGAAACTAAAATGTAAAGCCCCAGTTGAAGTTATTAAATTGCATGGCTAGAGTAAATATGAATCTATAAATACGAGTCTAAATAAGGTATATGAAAAGAAAAGTATGGTTTAATTCCTAAGTATAGAAATACGGTACAGGTTGTCCTTTCTGATTTCCACGTATTTTAGAATGTGGGGATAGTTGCCCAGAAGCAAGCCTGCTATTTTTTGTTGTTGTTGTTGTTTTGAGATGGAGTTTTGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGTTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTACCTGGGATTACAGGCACCCGCTACCACACCCAGCTAATTTTTGTATTAGTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCCACTGTTTTTATATTATAGGTCAAGCTCCAGCTCACAACCTGCTTAAGATCAGAATGATGTTAAAAACATCTCACATACACAGTCTCCTATTTCGGAACAATTCCAGTCATAATCTCAGAGAGACTGCAGAACCACCCTTACATGGAATATTAAAAATCTGTCTATATAATCCATCAGAGGAGAGATGCAATTGCTAAGAGTGGGCCATCTTGCAAGAGGCTGACTTCCTAATTTTTCCAAGCCTCTTCTTCCAGAAGCCTCTTCTCAAGCAGAAGAAACACCAGTTGATTACCATCTTCAAACACAAAAGGTAGCTAGCATACTGGTAGACTGGGCTTGCATTCCTATTCTTACCATGACCAATGTCTAACTCATTTTATGAAGCTCTCCGTAAATACTGAAATAATTTTAAAACAGAAAATATCAAACTATAAACACAAACCTAATTTACTTTTTCAAAATTAGAAAAAATGTGGAAGTAATGCTCCTTTCATATGGCAACAATAATTAAATAAGTGAGAATAAAACTGATTATTGATGGGCAGGGGCTACATGAGACTTTGGTCCTACAAACAAGACATCTAAAGCTCTCAAAAATCATTATGCTGGAAATATTTTACTAGATCTGAAAAACACAAGCACATAGATCTTTGATTTTCTTTCCTGGCCACTTCCATATTTTCCTTCTGCTTTTATATGATTACATAAAGAAAGCGTAAGCATCTGCCTTATCAATACTGTGGCAACCAGTGCTCTGGGGCACAAATGCGGCTTTGTAATTTTCCCCCACTGGTGTTCTCTCGTATTTCCCCCTTTATACTAAACGCTATGTAAGAGTGGGAATTGTTTTATGCACCTCTTGTTTTTGCATCCCTTTGTGCCTATTATGGTACTTCATGCAGAGCGGGTGTATAGTAAAGAGTTGATTGGGCTTCTGGGTGAAGAGTATGATCTAAGCGAGAATCACTCAAGTCTTTCTCTCTCCAACACACACACACACACACACACACACTTTTTAATCAAAAAGGACACATTTCCTCCATAAAACAAAACACCAGTGGGAAAGTAGTTTACAGTGACATTTTAAAGTCCTGGATGCCCAGAAATCTTATTTTCATGTCTCTTTGAATAGGAAGGAGAGAAGTATGATGGAGGAGGGAGAAAAGAAGGTCAACTATAAGGGTGTGCTGTTCCATTCCAAGGCTGTGTGAAGTCTCTTGGAGTCTCTTACTTCCATTTCTAAGGCTGAGTAAAGCAATTAGCAGCAGTGCTTTTAAGGAAGGGCAAATCAATTCCTTTCCACTAAAAAATTACCCATGGTTCAAATTTCTCTCTC
TGTATGTTGAAATGACATACACTTTGTGGTTGCCAACTAACTACATTCCTAATTTTCACTATTCCTTAGAAATATAATCAAGATCAAGAGGCTTTCCCCTAACTGTTGTTCTTTTGATGAAGCAGTGTGTGGACTGATATTCAGATGCACCCTCTTTTAAGCAAGTAACAGCACCCTTATTGGCCACTCACACCCAAATCATCTTTGCCAGTTTAGATCAAGCTCATAAAATAATTAAGTGAAAAAAAATGTCCTCTCTTGTGGAATAAATTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTCACCCAGGCTGCAATACAGTGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCTATTCTCCAGCCTCAGCCTCCCGAGTACCTGGGACTATAGGCACGCGCCACTGCATCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATTGGCCGGGCTGGTCTCAAACTCCTGACCTCAGGTGGTCCGCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTAAATTTTTGATGATAGAATAAAAAGCTGTCAAAAACTTTTACCTCATATATGTATCCCACATATGCCAAGAGCAATTTACTTTGTTTATGGCAGTGATTCTGTCCAACTAGAAGGTGAACTATATGCTACTACACATGATGGTACTTGCTTGCCCACACTGGGTCTAGCTCCATCACCTAGGCTGGAGTGCAGTGGCACCATCTCAGCTCGCTGCAGCCTAGACCTCCCGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGGGTAGCTGGGACTACAGACATGTGCTGCCACACCTGGCTAATTTTGTTTATTTTTTGCAGAAACAAGGTCTCACTATGTTTGCCCAGGCTGGATCCTTCAGTTTCCTTTGATAGGGAAATTTTGCTCAATTTTTCCTTCTCAGAGCATAATACTTGTCATTAATTCTGTGGATGATTTCACAAGTTCCTCAGCAATTTTTGTGACTAGTACTTCTTTTTGGCTTAAGTTTTGGTCCTCTTTTTCAAGATAAAATTAAAAATTCATTCATTTCATATCAGAAAGAATTACATTTCGTACTTGTTTTAGGAAACCTGAACTGGCTCAATAAATCACTGCTTTAAAAAAATGGCATGAAGCTTTGATGGCTTTATGCCACTATTTCACATGGTTTCATTATGAAGAAAGCACTAAGGATAGGGGCAAGAGAATTACTGGCCAAATGAAATCTGTCAGATATTCATCATCATATTACCTGTCTACATTTTCCATTTATAGCTGCTTATGCAAAAACATCAAACTGAAAAAATTTGCTTGTCTAAGGACATACAGATTCACATTCTACATTTTTATCAGGGTCTTCTTTGCTATTTATGTTTATAATTCTATCCTAAATTATAGTATAGATGTTACTATTTTCATCCCTACTTTTATGCTTCAATGGATTACTTCTGAGCTACTGATTCATTTGGGGTTTGGGGTTCTAATGTAATACAATGGTTGTAACAAAAACGCACACTTAACAACTGCAATTGATAATATAAATACACATTAGCTGAGTGAACTAGATATCTTATAAATGTTGGCTGAGACAAACAGAACACAGTAATGATTAGGAATGTAATGGGACAGCTGGGAAAATCATCGCTCATCTTAACATTTCAAATTTGTAACATGCATATGAAGAATAACATTTTAAAAAACTTTTCCTTTGATACAATCAAAATGCCTATGTACTAGTGCATGGACCCTCAAGACTACAGTCTAAGAATTCCACTCTAGACCAATCTGACTTGGCAATAACATTGCTGAATAATAAAAGTGCATAAGAAAATGAACATCGAGTTCATTTCATCATTCAGAGAGCAGGTGCCCCTCCTGGTACATGAGAATAAACCATACACCATAGACTGAGACCTGCCTTTGGAAACATAGGCCTACCTGAGGGTTCTCCTCCCGTTTTGGTTTGGGTGCAGCAGGTGGGGTGATGGTGCGGCTCTCTGTTTCTCATCTGTTTCTGTGTGAGATTTAACTGTCTAGGAGAGAAAAATTAAATAAAAATTCAGAATTCGTTTTTTATTAAAAGGATGAAGCAATCAGAAGTTTAATAGTAGTAGTCAAGAAGAAAGAAGACAACATATTCAAATGTGGAACATATTAATAAAAAGGTTAGTATTATAGATTTCATTGGGGGAGGGGAAACTAAAATGTAAAGCCCCAGTTGAAGTTATTAAATTGCATGGCTAGAGTAAATATGAATCTATAAATACGAGTCTAAATAAGGTATATGAAAAGAAAAGTATGGTTTAATTCCTAAGTATAGAAATACGGTACAGGTTGTCCTTTCTGATTTCCACGTATTTTAGAATGTGGGGATAGTTGCCCAGAAGCAAGCCTGCTATTTTTTGTTGTTGTTGTTGTTTTGAGATGGAGTTTTGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGTTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTACCTGGGATTACAGGCACCCGCTACCACACCCAGCTAATTTTTGTATTAGTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCCACTGTTTTTATATTATAGGTCAAGCTCCAGCTCACAACCTGCTTAAGATCAGAATGATGTTAAAAACATCTCACATACACAGTCTCCTATTTCGGAACAATTCCAGTCATAATCTCAGAGAGACTGCAGAACCACCCTTACATGGAATATTAAAAATCTGTCTATATAATCCATCAGAGGAGAGATGCAATTGCTAAGAGTGGGCCATCTTGCAAGAGGCTGACTTCCTAATTTTTCCAAGCCTCTTCTTCCAGAAGCCTCTTCTCAAGCAGAAGAAACACCAGTTGATTACCATCTTCAAACACAAAAGGTAGCTAGCATACTGGTAGACTGGGCTTGCATTCCTATTCTTACCATGACCAATGTCTAACTCATTTTATGAAGCTCTCCGTAAATACTGAAATAATTTTAAAACAGAAAATATCAAACTATAAACACAAACCTAATTTACTTTTTCAAAATTAGAAAAAATGTGGAAGTAATGCTCCTTTCATATGGCAACAATAATTAAATAAGTGAGAATAAAACTGATTATTGATGGGCAGGGGCTACATGAGACTTTGGTCCTACAAACAAGACATCTAAAGCTCTCAAAAATCATTATGCTGGAAATATTTTACTAGATCTGAAAAACACAAGCACATAGATCTTTGATTTTCTTTCCTGGCCACTTCCATATTTTCCTTCTGCTTTTATATGATTACATAAAGAAAGCGTAAGCATCTGCCTTATCAATACTGTGGCAACCAGTGCTCTGGGGCACAAATGCGGCTTTGTAATTTTCCCCCACTGGTGTTCTCTCGTATTTCCCCCTTTATACTAAACGCTATGTAAGAGTGGGAATTGTTTTATGCACCTCTTGTTTTTGCATCCCTTTGTGCCTATTATGGTACTTCATGCAGAGCGGGTGTATAGTAAAGAGTTGATTGGGCTTCTGGGTGAAGAGTATGATCTAAGCGAGAATCACTCAAGTCTTTCTCTCTCCAACACACACACACACACACACACACACTTTTTAATCAAAAAGGACACATTTCCTCCATAAAACAAAACACCAGTGGGAAAGTAGTTTACAGTGACATTTTAAAGTCCTGGATGCCCAGAAATCTTATTTTCATGTCTCTTTGAATAGGAAGGAGAGAAGTATGATGGAGGAGGGAGAAAAGAAGGTCAACTATAAGGGTGTGCTGTTCCATTCCAAGGCTGTGTGAAGTCTCTTGGAGTCTCTTACTTCCATTTCTAAGGCTGAGTAAAGCAATTAGCAGCAGTGCTTTTAAGGAAGGGCAAATCAATTCCTTTCCACTAAAAAATTACCCATGGTTCAAATTTCTCTCTCNNNN
pathogenic
174,900
Benign or pathogenic: chromosome 11, position 46366380, gene DGKZ (diacylglycerol kinase zeta) variant? Disease(s) if pathogenic?
benign
TTGTCAGGGGCTTAGCACAGTGCCTGACACATAGGGGCTCAGTAAATGTCAGCCGTGACACTGGTGATTTTGGGGGAGACCCAGCGCTCTCCACCCATGCCTGCTGTCCTGCCCCTGCAGCTCCCTCCGGCCCAGGTGGTCTGCTTTGAGTGGGGCACTATTTGGGGTCATAAGAGCACTGCCCTGACCTCCCTGTCATCTGAGGCAGCTGGAAACTCCAATAGGCAGAGACCAAGAGCTGAGCTGTGCAGAACTCTGCTTCCCTAGGCACCTCCACCCTGTCCATCTCTCCCCCAACACCCCTGTACCTGGCCTGAAGCTGCTCAAGACCTGCAGGGCAGTAGCAAATCAGTGCAGTGTATGGAAGGAGAAGGTGCTAGACGTGCGGCCTGGGCCTGACTCCTCCAGCCCTTCATCTTTGCCTTCATCCTTCCTCCTGCCCAACATGCGTCCAGGGCATCACCCACCATGCCTAATTAATGCCAGCCTTCAGGGGACCACAGGGCTTCTTCTGTCAGCCCCAGGCAGCACTGTCCCAGGGCTGTGACCTTGACCTCTGTGGCTGCCAGCGGTTAGGATGCATCCCCCACCAGTCTCTCCCCAGGACCAGGGCCCAGGAGATCACCTGCTGTGGGGCACAGGTGGCCTCAGGTACCTGGAGGCATCGCCAGCCTGATCCATGCCAGGCAGGCTGCCCTTCCCCCACTGTTAGGAGAGGTAGGGCACAGGAGCTCGATGCTGGCTGTGAAGAAGGGTAGGCAGGGCTGAGGTGAGCTGGCAGAGGGAGCAAAGCATGAGTTCAGGATGGGTCCATGGAGGCCAGGTCCAGGTGGGAGCTAGGATGATGCCCACAGCTCCTGCCTGCCTGCAGGAGGGAGCTCTGGGCTGTGCAGCGTTTGGAATTGTGAGTATGGGGGCTTCCAGCATCAGGGCCGCAGAAGAATGTGCAGTCACAGGCTCCATCAGGAGCAGAGTCAGAAGGGTTTCCCGGCATCACCCAGCTTCACCCTGGGGTATCCGTACTTTGTCCCTTCAGAAAGGTGAGACAGAGCAGTCGAGCACCAGAAAGTTCTTACCATCAGCACTTCAGACATACAGGCACGCACACACCCAGAATCCAGAAGGCTTTGCTTTTGGCCCAAGCCTATTGTCACGGCCCCCTGGGTGTGAAGGGAGACTGAGCAGCCTCTCTCCCAGGAGAGCCAGACAGTGACTCTCCAGTTCCCTGAGACCTGGTCTCCCCTGAGCTACACATTAGACCCTCTCTATTTCCAGGAGTCACCTTCAGCCTGACCCCAAGGCTATGGGCTGAGAGACTCTGGGGGTCCTGTCAGGATTAAGTTCCTTTGCAGAGAGCCTCATTTTGTTATAGCTTGGTTTGCTCCATGTCCCATGAGGGGACACCTAACCTGCCCCCACCATGTTGGTGGCAAAACAAAGGCCCAGCAAGTGGGAAGCCCTGCCCTGGGCCCCACCGTCCATCCAGGCAGACCGACTCCCCATTTTCTTTTTGTTTTCTTTTCCATCAGCTTCCGGCAGGGCAGGTGGAGGCCTTTAGGCCCAGAGCTCTGTAGATTCTGGTGCCTGGATGGGGGAAGAAGGGGTAGCCTGAAGCACCCACCTCCCTGGGACTCCAGGGCTCCCTAGGGTGCAATGGGGGAGAGCATCAGTGCCCCAACAGCTGTAAACGTGGGCTCCCCTGAGCACCCCTGGGATCCTCACATGGAGGTCAGAGGCTGCAGTGACCCCTCCCTCCCTCAGGGGTTGCTTCCCTTCTCATGGGGCAGAGGCTGTGAATGGGCTCCTGGTTGCTTCCCTTCTCATGGGGCAGAGGCTGTGAATGGGCTCCCGGACACAGGACAGACCGTGGCCTGATCCAGCTCCTGATGCTCCCGGTCTCTGTGCCCAACAGCCAACCGCCTGCCATGGAGACTTTCTTTAGGAGACATTTCCGGGGGAAGGTGCCAGGCCCTGGAGAGGGGCAGCAGCGGCCCAGCAGCGTGGGGCTGCCCACAGGCAAGGCCCGGCGTCGCTCCCCCGCTGGGCAGGCCTCCTCCTCACTGGCACAGCGGCGCCGCTCCAGCGCCCAGCTCCAGGGCTGCCTCCTGAGTTGCGGGGTGAGGGCCCAGGGTTCCAGCCGCCGGCGCTCCAGCACTGTGCCCCCTTCCTGCAACCCCCGCTTCATCGTGGATAAGGTGCTCACTCCACAGCCTACCACCGTGGGGGCCCAGCTTCTGGGTGCACCCCTGCTGTTGACCGGGCTTGTGGGCATGAATGAGGAGGAGGGTGTCCAGGAGGATGTGGTAGCCGAGGCATCGAGCGCCATCCAGCCAGGCACCAAGACACCAGGGCCACCCCCACCTCGGGGCGCCCAGCCGCTGTTGCCCCTACCCCGCTACCTGCGCCGAGCCTCCTCCCACCTGCTCCCCGCGGATGCCGTATATGACCACGCTCTCTGGGGCCTGCACGGCTACTATCGGCGCCTCAGCCAGCGGCGGCCCTCAGGCCAGCACCCTGGCCCTGGGGGCCGAAGAGCCTCAGGCACCACCGCCGGCACCATGCTGCCCACCCGTGTGCGCCCACTGTCCCGCAGGCGCCAGGTAGCCCTACGGCGCAAGGCGGCCGGACCCCAGGCCTGGAGCGCCCTGCTCGCGTAGGTATAGCTGTGGCCAGCAGGGCGAGTGGTGTGACCTCCTGTGGGTCTGGCCTGGGCATGGGCCTTGAAGCTCTGCCTGGCTGAGGGTTCCCCACTTGGGAACACTCTGGGCAGTACCCTGAAGCCAGCGTACCCCAAAAGGCCATGTCTCTTGCAGGGAGCCTCTTAGTGTCTGGGGCTGCTGGGAGGCTCCTCCGCCCTCCCTGTTGCCGAGGTCACGGAAAGGGCAGAGGCCCCAGGAGGTGGGAGGAAGTAGGGTCAGCAAGTGCTCAGCCCCCTCCTCAGCTGTCTTCTCCTCTCTAGGAAAGCCATCACCAAGTCGGGCCTCCAGCACCTGGCCCCCCCTCCGCCCACCCCTGGGGCCCCGTGCAGCGAGTCAGAGCGGCAGATCCGGAGTACAGTGGACTGGAGCGTGAGTGCCTGAACACCCCTGGGTCCCAGACCCTCTGGGCTCTTGGCCAAGGCGCAGCTGGCGGGTGGAGGCACTAAAGGCAGCTGGGAGAGCCAAGCCTGGAAGGGTTGGGACAGTGGGGCAGACGGAACAGAGCAGGGTCGATCGGGGCGCTGGAGTGGGTTTGTCTTGGGAGAGGGCGGGTGGGCGGGGGCTGATGGGAGGGAGGGCTGGGCGGCCAGCGTGTGCTGAGCAAGCCCATCCCGTGGCTAGGAGTCAGCGACATATGGGGAGCACATCTGGTTCGAGACCAACGTGTCCGGGGACTTCTGCTACGTTGGGGAGCAGTACTGTGTAGCCAGGATGCTGGTGAGTGCTCGTAGGGGCACGCCGCCCCCTGCTGGTGGAGCCAGTAGCCGCAGCCCTTCCGGGAACGTGGGATTGAGCCCGCTCCCTGGCACCCCTGCTGTGGGCCGCCCCAGGATGGTGAGGGGTGCAGGGGCTTTGTCCGGATGCCAGGACTGGGGCTTCCCAGTGCACACAAAGGGCAGCTGTGCTGGGGCAGGCAGCCTCCGAGATAGACTTACCTGGTGCCTCAGGGGCCCTCTCTTCCTGTCCTGCAGCAGAAGTCAGTGTCTCGAAGAAAGTGCGCAGCCTGCAAGATTGTGGTGCACACGCCCTGCATCGAGCAGCTGGAGAAGGTGGGTGGGTAGCTCAGCTTTGCCCGCCCCTGCCCTTTGGGTGCTGAGGCCCTTTCAGCGCGCACTCACACCCACATGTTATACAAACGGCCTGCCAGGAGTGACCCAGCACTCGGGGGTGAAGAGTCAAGGACCCTGGAGCCAAATGCCTGCGTTCGAATCCTGGCTCCTCACTGATTAGCTGCTGTATCCCCACTGCCTGGAACAAACCTGGCGCCTAGTGGGTTCGTTGAATATCACTCAATGGAATGAATTGACGAATGGTGGCCCTTGTACCATTTCACCATGTCCAAACTAGTGCTTAGAAGAGGCCATTGATTTGCTGAAGCTTCATAACTCAGCTGTGGC
TTGTCAGGGGCTTAGCACAGTGCCTGACACATAGGGGCTCAGTAAATGTCAGCCGTGACACTGGTGATTTTGGGGGAGACCCAGCGCTCTCCACCCATGCCTGCTGTCCTGCCCCTGCAGCTCCCTCCGGCCCAGGTGGTCTGCTTTGAGTGGGGCACTATTTGGGGTCATAAGAGCACTGCCCTGACCTCCCTGTCATCTGAGGCAGCTGGAAACTCCAATAGGCAGAGACCAAGAGCTGAGCTGTGCAGAACTCTGCTTCCCTAGGCACCTCCACCCTGTCCATCTCTCCCCCAACACCCCTGTACCTGGCCTGAAGCTGCTCAAGACCTGCAGGGCAGTAGCAAATCAGTGCAGTGTATGGAAGGAGAAGGTGCTAGACGTGCGGCCTGGGCCTGACTCCTCCAGCCCTTCATCTTTGCCTTCATCCTTCCTCCTGCCCAACATGCGTCCAGGGCATCACCCACCATGCCTAATTAATGCCAGCCTTCAGGGGACCACAGGGCTTCTTCTGTCAGCCCCAGGCAGCACTGTCCCAGGGCTGTGACCTTGACCTCTGTGGCTGCCAGCGGTTAGGATGCATCCCCCACCAGTCTCTCCCCAGGACCAGGGCCCAGGAGATCACCTGCTGTGGGGCACAGGTGGCCTCAGGTACCTGGAGGCATCGCCAGCCTGATCCATGCCAGGCAGGCTGCCCTTCCCCCACTGTTAGGAGAGGTAGGGCACAGGAGCTCGATGCTGGCTGTGAAGAAGGGTAGGCAGGGCTGAGGTGAGCTGGCAGAGGGAGCAAAGCATGAGTTCAGGATGGGTCCATGGAGGCCAGGTCCAGGTGGGAGCTAGGATGATGCCCACAGCTCCTGCCTGCCTGCAGGAGGGAGCTCTGGGCTGTGCAGCGTTTGGAATTGTGAGTATGGGGGCTTCCAGCATCAGGGCCGCAGAAGAATGTGCAGTCACAGGCTCCATCAGGAGCAGAGTCAGAAGGGTTTCCCGGCATCACCCAGCTTCACCCTGGGGTATCCGTACTTTGTCCCTTCAGAAAGGTGAGACAGAGCAGTCGAGCACCAGAAAGTTCTTACCATCAGCACTTCAGACATACAGGCACGCACACACCCAGAATCCAGAAGGCTTTGCTTTTGGCCCAAGCCTATTGTCACGGCCCCCTGGGTGTGAAGGGAGACTGAGCAGCCTCTCTCCCAGGAGAGCCAGACAGTGACTCTCCAGTTCCCTGAGACCTGGTCTCCCCTGAGCTACACATTAGACCCTCTCTATTTCCAGGAGTCACCTTCAGCCTGACCCCAAGGCTATGGGCTGAGAGACTCTGGGGGTCCTGTCAGGATTAAGTTCCTTTGCAGAGAGCCTCATTTTGTTATAGCTTGGTTTGCTCCATGTCCCATGAGGGGACACCTAACCTGCCCCCACCATGTTGGTGGCAAAACAAAGGCCCAGCAAGTGGGAAGCCCTGCCCTGGGCCCCACCGTCCATCCAGGCAGACCGACTCCCCATTTTCTTTTTGTTTTCTTTTCCATCAGCTTCCGGCAGGGCAGGTGGAGGCCTTTAGGCCCAGAGCTCTGTAGATTCTGGTGCCTGGATGGGGGAAGAAGGGGTAGCCTGAAGCACCCACCTCCCTGGGACTCCAGGGCTCCCTAGGGTGCAATGGGGGAGAGCATCAGTGCCCCAACAGCTGTAAACGTGGGCTCCCCTGAGCACCCCTGGGATCCTCACATGGAGGTCAGAGGCTGCAGTGACCCCTCCCTCCCTCAGGGGTTGCTTCCCTTCTCATGGGGCAGAGGCTGTGAATGGGCTCCTGGTTGCTTCCCTTCTCATGGGGCAGAGGCTGTGAATGGGCTCCCGGACACAGGACAGACCGTGGCCTGATCCAGCTCCTGATGCTCCCGGTCTCTGTGCCCAACAGCCAACCGCCTGCCATGGAGACTTTCTTTAGGAGACATTTCCGGGGGAAGGTGCCAGGCCCTGGAGAGGGGCAGCAGCGGCCCAGCAGCGTGGGGCTGCCCACAGGCAAGGCCCGGCGTCGCTCCCCCGCTGGGCAGGCCTCCTCACTGGCACAGCGGCGCCGCTCCAGCGCCCAGCTCCAGGGCTGCCTCCTGAGTTGCGGGGTGAGGGCCCAGGGTTCCAGCCGCCGGCGCTCCAGCACTGTGCCCCCTTCCTGCAACCCCCGCTTCATCGTGGATAAGGTGCTCACTCCACAGCCTACCACCGTGGGGGCCCAGCTTCTGGGTGCACCCCTGCTGTTGACCGGGCTTGTGGGCATGAATGAGGAGGAGGGTGTCCAGGAGGATGTGGTAGCCGAGGCATCGAGCGCCATCCAGCCAGGCACCAAGACACCAGGGCCACCCCCACCTCGGGGCGCCCAGCCGCTGTTGCCCCTACCCCGCTACCTGCGCCGAGCCTCCTCCCACCTGCTCCCCGCGGATGCCGTATATGACCACGCTCTCTGGGGCCTGCACGGCTACTATCGGCGCCTCAGCCAGCGGCGGCCCTCAGGCCAGCACCCTGGCCCTGGGGGCCGAAGAGCCTCAGGCACCACCGCCGGCACCATGCTGCCCACCCGTGTGCGCCCACTGTCCCGCAGGCGCCAGGTAGCCCTACGGCGCAAGGCGGCCGGACCCCAGGCCTGGAGCGCCCTGCTCGCGTAGGTATAGCTGTGGCCAGCAGGGCGAGTGGTGTGACCTCCTGTGGGTCTGGCCTGGGCATGGGCCTTGAAGCTCTGCCTGGCTGAGGGTTCCCCACTTGGGAACACTCTGGGCAGTACCCTGAAGCCAGCGTACCCCAAAAGGCCATGTCTCTTGCAGGGAGCCTCTTAGTGTCTGGGGCTGCTGGGAGGCTCCTCCGCCCTCCCTGTTGCCGAGGTCACGGAAAGGGCAGAGGCCCCAGGAGGTGGGAGGAAGTAGGGTCAGCAAGTGCTCAGCCCCCTCCTCAGCTGTCTTCTCCTCTCTAGGAAAGCCATCACCAAGTCGGGCCTCCAGCACCTGGCCCCCCCTCCGCCCACCCCTGGGGCCCCGTGCAGCGAGTCAGAGCGGCAGATCCGGAGTACAGTGGACTGGAGCGTGAGTGCCTGAACACCCCTGGGTCCCAGACCCTCTGGGCTCTTGGCCAAGGCGCAGCTGGCGGGTGGAGGCACTAAAGGCAGCTGGGAGAGCCAAGCCTGGAAGGGTTGGGACAGTGGGGCAGACGGAACAGAGCAGGGTCGATCGGGGCGCTGGAGTGGGTTTGTCTTGGGAGAGGGCGGGTGGGCGGGGGCTGATGGGAGGGAGGGCTGGGCGGCCAGCGTGTGCTGAGCAAGCCCATCCCGTGGCTAGGAGTCAGCGACATATGGGGAGCACATCTGGTTCGAGACCAACGTGTCCGGGGACTTCTGCTACGTTGGGGAGCAGTACTGTGTAGCCAGGATGCTGGTGAGTGCTCGTAGGGGCACGCCGCCCCCTGCTGGTGGAGCCAGTAGCCGCAGCCCTTCCGGGAACGTGGGATTGAGCCCGCTCCCTGGCACCCCTGCTGTGGGCCGCCCCAGGATGGTGAGGGGTGCAGGGGCTTTGTCCGGATGCCAGGACTGGGGCTTCCCAGTGCACACAAAGGGCAGCTGTGCTGGGGCAGGCAGCCTCCGAGATAGACTTACCTGGTGCCTCAGGGGCCCTCTCTTCCTGTCCTGCAGCAGAAGTCAGTGTCTCGAAGAAAGTGCGCAGCCTGCAAGATTGTGGTGCACACGCCCTGCATCGAGCAGCTGGAGAAGGTGGGTGGGTAGCTCAGCTTTGCCCGCCCCTGCCCTTTGGGTGCTGAGGCCCTTTCAGCGCGCACTCACACCCACATGTTATACAAACGGCCTGCCAGGAGTGACCCAGCACTCGGGGGTGAAGAGTCAAGGACCCTGGAGCCAAATGCCTGCGTTCGAATCCTGGCTCCTCACTGATTAGCTGCTGTATCCCCACTGCCTGGAACAAACCTGGCGCCTAGTGGGTTCGTTGAATATCACTCAATGGAATGAATTGACGAATGGTGGCCCTTGTACCATTTCACCATGTCCAAACTAGTGCTTAGAAGAGGCCATTGATTTGCTGAAGCTTCATAACTCAGCTGTGGCNNN
benign
174,947
Clinical classification of chromosome 11, position 46703166, gene ZNF408 (zinc finger protein 408): benign or pathogenic? Disease(s) if pathogenic?
benign
CCGCGACCCTCAACCTTGGCCCAGGTGGATCTGACGCTCTGTGGTCAGCTTTCTCCTCAGTCTTCTCTCCTCCGGATCCCAGGATCCTCCAGTGCCCTCAGAGTCGCTGGGGGCTTCTGAAGAGCCCTTGAGCCTCCTCAAAACTTTCAGGGCCCTCCTTAGAGCCCTCACCTGTCCCTCGGGCTCCGCAGGCCCACCTGGACCTGCGGTTTCCTCCCACACTTTTCCCCACCTCCCACCTTCTTGGGTGGCTCCCTCACTGTCTTCCCTTCTCTCTGCAGCCCGCGAGCCGCGCCTGGGCCTGGACTTAGGATGGAACCCTTCCGGAGAAGGCTGTACGCAGGGCCTCAAAGACGTCCCACCCGAGCCGACCCGAGACATCCTCGCTTTAAAGAGCCTTCCCCGGGGCTTGGCCCTTGGCCCCTCACTCGCCAAGGAACAGCGCTTGGGGGTCTGGTGTGTCGGGGACCCCCTGCAGCCCGGCCTGCTGTGGGGGCCGCTGGAAGAGGAGTCTGCCTCCAAGGAGAAGGGCGAGGGAGTAAAGCCACGGCAGGAGGAGGTATTGAAGGATAGAGCGACTTCCCTCCGCCCTTGAAAATGTAGGGGAGGTTTGGACATTGCTAGACAGCTTTTCAATTTGAAGAAAGAGAGTATTTCAAGAGATAGGAGATAGTCTTGTCCCTTCTCTTCAGGACTGTCTCCTCTCAGCAGCAGTAGTTAAAGAATCGAGGTTTGAAAAGTTGTTGAAAGCTGGAATCATACAGTGTCAGCAGTGAGTGAGGAAGGTCAAGAGCTAAGGTTTTTGGAATTAAGAAAGCATGGGATCAAATTCCAGCTTTGTCACCTAGCTGGTTAAATTACGTGCCGCATTTAATTCATCTGTGAAACAAAGCAGTGGCTCTCTTGGGATTATATGGAGGAGCTGATGAAATAGTGAAGATAAAAGGTTTCACTGCACAATAAGTACCATTTTATTTTATTTATTTTTCTTTTTTCTTAGACAGTCTTGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGCCTTATTGCAACCTCCACTTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGATTACAGATGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCAAACTCCTGGCCTCAAGTAATCCGCCTGCCTGGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCCCCGCGCCTGGCCCAATAAATACCATTTTAAAAAGCTGGTGTTCCTTATTACTTTTTCTGTTTAGTACTCACTGGAAGACAGTAATGTGTTCAATTTAGTAATTCTCCATACCCTTGGGAGGGAGGTGAGGAGACAGACTTTTTGGTCCTTACTGAATGAAGAATCAGACAGCACTGTCCTGTTAGAGGAGAACCAGAGGCTTCTAACCTTCCAGGAGTTTCATCTTAAATTTGTCCCAGGAAAGTTTCATCTAGTTTCTTTTTTTATTCCTACCCGACCCCTCGAACACATTTGAGAAGGACTTTTGTTGGTTTATTTCAGAACCTGTCATTAGGCCCATGGGGAGACGTGTGTGCCTGTGAGCAGAGTTCTGGCTGGACTAGGTAAGTCAGAGGAGAGTGTGTCGTTCCTTTGAGGTTTTCTGTTGTGGTTTGGGATGGAACCCGGTGCTGACTGTCATTTCCTATTCAGTGCTCTTTTGCAGTGAATGTTCCAAAGGCACGGCGTCCTTTAGGACCCAGACTGCTTGGGGACTGGGGCTTTCGGGGAAGACCACTTGAATAGTGAGCATCTCCTAGCTGGCTGTTACTTTGCTTTGCAGCTTGGTACAACGGGGCAGGCTGGAGAGTGAGGGAAATGTGGCCCCAGTGCGGATCAGCGAGAGGCTTCATCTGCAAGTGTACCAGCTGGTGCTGCCAGGCTCTGAACTGCTGCTGTGGCCCCAGCCTTCCTCTGAGGGCCCAAGTCTCACCCAGCCTGGGCTGGACAAAGAGGCAGCTGTAGCAGTGGTGACAGAAGTGGAGTCTGCTGTACAGCAGGAAGTGGCCTCCCCTGGGGAGGATGCAGCAGAACCTTGCATAGGTATGTGTCAAATAAATGCTGGTTTCCCAGCAATTTCCCCACCAAAACAACCTGTTGATAAGACAAAGCAGAGTTTATGGCTCATTGCGGTAAGGAAGGACACTATAGAGTCTTAGTAGCTTTTCAAAATCTGTTTTAAGGTGGATCTTTCAACATGGGATAGGAGGGTGGGGCTTGATTAGTATTGGGTAAGGATTATGACTGAATAGCTTAGGGTTGGTACATACAGCAAGGCTAGAATTTTCAGGCAAGGGACAGTCTCAGACTATGAATTGTCATTCATTGCTTTCTGTTGAAGAGCGACGGGTCTGTTCTTTGGAATAACAATATAGATATTTGCAACTTTTACCTTCCTAAGAGCTTCCTGGAATAGTAAGAAAGAGAGTAAGCTTTGTATGTACACGGTTTCCAGCCTCCCATGTTTCTTCTCTCTGGCGTGGGGGTTCTTTTATATTACAGATGAGCTAAGGTGGGAAGGGGTTTTTTTGTTTTGTTTTGTTTTGTTGTTGTTGTTGTTGTTGTTGTTGTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGCGTGGTCTCAGCTCGCTGCAACCTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCAGCTAATTTTTTTGCATTTTTAGTAGAGATGGGGTTTCACCATGTCAGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGTCTCTGCCTCCCAAGATGCTAGGCTTAACAGGTGTGAGCCACCGTGCCCGGCTGGAAGGGGTCTTGAATCACATCCTAAATATGTGTCTCCAGGGGCGAACAAGGGGATTCTCCATCTGGGATGGCCTTATTCTAGTGATTATCCAGATGGCTGGGACCCCATGGCTCTCAGGAGTGCTTCTCCAAAAGGCGCTTAAGGCTGGACAGGAAGATAAATGGAGTGTGCACCCCATGCTCCAGGGAAGAGATTGGTATCATTGCTCCCTCTAAGGCTCAGGGGCTGGGTGGGAGAAAACATCTGATCCTGTAATTCCCTGGTAACACCATCTGCATTGAAGCTCCCTAAACCCAGTACCCCATCCTTGCCTTGCAGATCCTGGTTCCCAGTCACCCTCTGGCATCCAGGCAGAGAATATGGTGAGCCCTGGACTTAAGTTCCCAACCCAGGACCGAATTTCCAAGGATAGCCAGCCACTTGGCCCATTGCTTCAGGATGGCGACGTGGATGAGGAATGCCCGGCCCAGGCACAGATGCCACCTGAACTTCAGAGCAATTCGGCTACCCAGCAGGACCCAGATGGCAGTGGAGCCAGTTTCTCATCTTCTGCCAGGGGCACCCAGCCGCATGGCTACCTGGCCAAGAAGTTACACAGCCCCAGTGATCAGTGCCCACCCAGAGCAAAGACCCCAGAGCCTGGAGCCCAGCAGTCTGGCTTCCCTACACTCTCGCGGAGCCCTCCTGGCCCAGCAGGAAGCTCCCCAAAGCAGGGGCGACGGTACCGGTGTGGAGAGTGTGGCAAGGCATTCCTACAGCTGTGCCACCTAAAGAAGCACGCATTTGTGCACACGGGCCACAAGCCCTTTCTTTGCACTGAGTGTGGCAAGAGCTATAGCTCAGAGGAGAGCTTCAAAGCCCATATGCTGGGCCACCGTGGGGTGCGGCCCTTCCCCTGTCCACAATGCGACAAGGCCTATGGCACCCAGCGAGACCTCAAAGAGCACCAGGTGGTACATTCAGGTGCCCGGCCCTTTGCTTGTGACCAGTGTGGCAAGGCCTTTGCCCGCCGGCCCTCCCTGCGGCTGCATCGCAAGACCCACCAGGTGCCAGCTGCCCCTGCCCCTTGCCCATGCCCTGTGTGTGGGCGGCCCCTGGCCAACCAGGGCTCCCTGCGGAACCATATGAGGCTCCATACAGGAGAAAAGCCTTTCCTGTGCCCGCACTGTGGCCGGGCGT
CCGCGACCCTCAACCTTGGCCCAGGTGGATCTGACGCTCTGTGGTCAGCTTTCTCCTCAGTCTTCTCTCCTCCGGATCCCAGGATCCTCCAGTGCCCTCAGAGTCGCTGGGGGCTTCTGAAGAGCCCTTGAGCCTCCTCAAAACTTTCAGGGCCCTCCTTAGAGCCCTCACCTGTCCCTCGGGCTCCGCAGGCCCACCTGGACCTGCGGTTTCCTCCCACACTTTTCCCCACCTCCCACCTTCTTGGGTGGCTCCCTCACTGTCTTCCCTTCTCTCTGCAGCCCGCGAGCCGCGCCTGGGCCTGGACTTAGGATGGAACCCTTCCGGAGAAGGCTGTACGCAGGGCCTCAAAGACGTCCCACCCGAGCCGACCCGAGACATCCTCGCTTTAAAGAGCCTTCCCCGGGGCTTGGCCCTTGGCCCCTCACTCGCCAAGGAACAGCGCTTGGGGGTCTGGTGTGTCGGGGACCCCCTGCAGCCCGGCCTGCTGTGGGGGCCGCTGGAAGAGGAGTCTGCCTCCAAGGAGAAGGGCGAGGGAGTAAAGCCACGGCAGGAGGAGGTATTGAAGGATAGAGCGACTTCCCTCCGCCCTTGAAAATGTAGGGGAGGTTTGGACATTGCTAGACAGCTTTTCAATTTGAAGAAAGAGAGTATTTCAAGAGATAGGAGATAGTCTTGTCCCTTCTCTTCAGGACTGTCTCCTCTCAGCAGCAGTAGTTAAAGAATCGAGGTTTGAAAAGTTGTTGAAAGCTGGAATCATACAGTGTCAGCAGTGAGTGAGGAAGGTCAAGAGCTAAGGTTTTTGGAATTAAGAAAGCATGGGATCAAATTCCAGCTTTGTCACCTAGCTGGTTAAATTACGTGCCGCATTTAATTCATCTGTGAAACAAAGCAGTGGCTCTCTTGGGATTATATGGAGGAGCTGATGAAATAGTGAAGATAAAAGGTTTCACTGCACAATAAGTACCATTTTATTTTATTTATTTTTCTTTTTTCTTAGACAGTCTTGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGCCTTATTGCAACCTCCACTTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGATTACAGATGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCAAACTCCTGGCCTCAAGTAATCCGCCTGCCTGGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCCCCGCGCCTGGCCCAATAAATACCATTTTAAAAAGCTGGTGTTCCTTATTACTTTTTCTGTTTAGTACTCACTGGAAGACAGTAATGTGTTCAATTTAGTAATTCTCCATACCCTTGGGAGGGAGGTGAGGAGACAGACTTTTTGGTCCTTACTGAATGAAGAATCAGACAGCACTGTCCTGTTAGAGGAGAACCAGAGGCTTCTAACCTTCCAGGAGTTTCATCTTAAATTTGTCCCAGGAAAGTTTCATCTAGTTTCTTTTTTTATTCCTACCCGACCCCTCGAACACATTTGAGAAGGACTTTTGTTGGTTTATTTCAGAACCTGTCATTAGGCCCATGGGGAGACGTGTGTGCCTGTGAGCAGAGTTCTGGCTGGACTAGGTAAGTCAGAGGAGAGTGTGTCGTTCCTTTGAGGTTTTCTGTTGTGGTTTGGGATGGAACCCGGTGCTGACTGTCATTTCCTATTCAGTGCTCTTTTGCAGTGAATGTTCCAAAGGCACGGCGTCCTTTAGGACCCAGACTGCTTGGGGACTGGGGCTTTCGGGGAAGACCACTTGAATAGTGAGCATCTCCTAGCTGGCTGTTACTTTGCTTTGCAGCTTGGTACAACGGGGCAGGCTGGAGAGTGAGGGAAATGTGGCCCCAGTGCGGATCAGCGAGAGGCTTCATCTGCAAGTGTACCAGCTGGTGCTGCCAGGCTCTGAACTGCTGCTGTGGCCCCAGCCTTCCTCTGAGGGCCCAAGTCTCACCCAGCCTGGGCTGGACAAAGAGGCAGCTGTAGCAGTGGAGTCTGCTGTACAGCAGGAAGTGGCCTCCCCTGGGGAGGATGCAGCAGAACCTTGCATAGGTATGTGTCAAATAAATGCTGGTTTCCCAGCAATTTCCCCACCAAAACAACCTGTTGATAAGACAAAGCAGAGTTTATGGCTCATTGCGGTAAGGAAGGACACTATAGAGTCTTAGTAGCTTTTCAAAATCTGTTTTAAGGTGGATCTTTCAACATGGGATAGGAGGGTGGGGCTTGATTAGTATTGGGTAAGGATTATGACTGAATAGCTTAGGGTTGGTACATACAGCAAGGCTAGAATTTTCAGGCAAGGGACAGTCTCAGACTATGAATTGTCATTCATTGCTTTCTGTTGAAGAGCGACGGGTCTGTTCTTTGGAATAACAATATAGATATTTGCAACTTTTACCTTCCTAAGAGCTTCCTGGAATAGTAAGAAAGAGAGTAAGCTTTGTATGTACACGGTTTCCAGCCTCCCATGTTTCTTCTCTCTGGCGTGGGGGTTCTTTTATATTACAGATGAGCTAAGGTGGGAAGGGGTTTTTTTGTTTTGTTTTGTTTTGTTGTTGTTGTTGTTGTTGTTGTTGTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGCGTGGTCTCAGCTCGCTGCAACCTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCAGCTAATTTTTTTGCATTTTTAGTAGAGATGGGGTTTCACCATGTCAGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGTCTCTGCCTCCCAAGATGCTAGGCTTAACAGGTGTGAGCCACCGTGCCCGGCTGGAAGGGGTCTTGAATCACATCCTAAATATGTGTCTCCAGGGGCGAACAAGGGGATTCTCCATCTGGGATGGCCTTATTCTAGTGATTATCCAGATGGCTGGGACCCCATGGCTCTCAGGAGTGCTTCTCCAAAAGGCGCTTAAGGCTGGACAGGAAGATAAATGGAGTGTGCACCCCATGCTCCAGGGAAGAGATTGGTATCATTGCTCCCTCTAAGGCTCAGGGGCTGGGTGGGAGAAAACATCTGATCCTGTAATTCCCTGGTAACACCATCTGCATTGAAGCTCCCTAAACCCAGTACCCCATCCTTGCCTTGCAGATCCTGGTTCCCAGTCACCCTCTGGCATCCAGGCAGAGAATATGGTGAGCCCTGGACTTAAGTTCCCAACCCAGGACCGAATTTCCAAGGATAGCCAGCCACTTGGCCCATTGCTTCAGGATGGCGACGTGGATGAGGAATGCCCGGCCCAGGCACAGATGCCACCTGAACTTCAGAGCAATTCGGCTACCCAGCAGGACCCAGATGGCAGTGGAGCCAGTTTCTCATCTTCTGCCAGGGGCACCCAGCCGCATGGCTACCTGGCCAAGAAGTTACACAGCCCCAGTGATCAGTGCCCACCCAGAGCAAAGACCCCAGAGCCTGGAGCCCAGCAGTCTGGCTTCCCTACACTCTCGCGGAGCCCTCCTGGCCCAGCAGGAAGCTCCCCAAAGCAGGGGCGACGGTACCGGTGTGGAGAGTGTGGCAAGGCATTCCTACAGCTGTGCCACCTAAAGAAGCACGCATTTGTGCACACGGGCCACAAGCCCTTTCTTTGCACTGAGTGTGGCAAGAGCTATAGCTCAGAGGAGAGCTTCAAAGCCCATATGCTGGGCCACCGTGGGGTGCGGCCCTTCCCCTGTCCACAATGCGACAAGGCCTATGGCACCCAGCGAGACCTCAAAGAGCACCAGGTGGTACATTCAGGTGCCCGGCCCTTTGCTTGTGACCAGTGTGGCAAGGCCTTTGCCCGCCGGCCCTCCCTGCGGCTGCATCGCAAGACCCACCAGGTGCCAGCTGCCCCTGCCCCTTGCCCATGCCCTGTGTGTGGGCGGCCCCTGGCCAACCAGGGCTCCCTGCGGAACCATATGAGGCTCCATACAGGAGAAAAGCCTTTCCTGTGCCCGCACTGTGGCCGGGCGTNNNNNNNNNNNN
benign
174,983
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 46881666, gene LRP4 (LDL receptor related protein 4). What disease(s) is it linked to if pathogenic?
benign
TTTACAGTGGACACTACCTTAACCATACAATGGCAGTAAGTATCACAATAACGGAACAGGCCAACACCTGTGTCTACTGATGAGACACACTGAGAACTCAAGGACATGACTTCACTTAGTGTAGTATTCCTGCTGCAAATGCACACTCTGAATCCAATCACAAGGAAACATTAGATAAATCCAAGTTGAGAGACATTATAAAAAATAACTGGCCTTTACTCTTTAAAAATGCAAATGTCCACTTTGGGAGGTCCAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCGGGTGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGACAGAGATTGCAGTGAGCTGAGATCGCACCATTGCACGCCAGTCTGGGCGACAGAGCAAGACTCTTGTCTCAAAACAAAACAAACAAACAAAAAATGCAAATGTCAATAAAGTCACAGAAAAGCTGAGGAAATGTTCCAGATTAGAGAGTAAAGAGACTAGATTAGTTGGGCCCGGTGGCGCACAGCTCCAGCTACTCAGGAGCCTCAGATGGGAGGATCACCTGAGCCCAGGTCAGCATGGGCAACACACCAAGACTGCAGTCTCAAAAAAAAAAAAAAAAAAAGCTATGTGTGGTGGCTCATGCCTATAAACCCAACACTTTGGGAGGTCAAAGCAGGAGGATTGCTTGAGCCTAGGAGTTCAAGACTAGCCTAGACAACAAAGTGAGACCCCCATCTCTACAAAAAATAAAAAAATCAGCCGAGTGGCCTCAAACCCGTAGGCTCCTGAGTAGCTAGGGTGCAGTAGTAGGTGCCTGTGGTCCCAGCTACGTGGGAGGATCCCTTGGGCCAGGAGGTCGCAGTTACAGTGGGCCATGTTTGTGGCACTACACTCCTGCCTGGGCCACGGAGTGAGTGTCTAAAAATAAATAAATAAATAAAAATTAAAAGAGACGTAATTACTAAACACAATGGGTGATCCTGATTGGATCCTAGATTAACAAAGAAAAAAAGTGGGGTGGGAGGAGCTATAAAGGACATCACTGAGGCAATTGGTAGTGAAATTGGGCAAGGACTATGATTAGACAGTAATATTGGGCCGGGCATGGTGGCTCGTGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGAAGGATCGTTTGAGGCCAGAAGTTTGAGACTAGCCTGGGTAATACAGGAAGTCTCTACCAAAAAAAAAGAAAAAAACTAGCCAGGCGTTATGGCTCATGCGTGTAGTCTCAGCTACTCAGGATCCTAGTAGGTCGAGGGTGCAGTGACCCAATATTGTGCCACTGCACTCCAGCCTGGGTGACACAGCATGACCCTGCCTCTAAAAAACCAAAAAAAAAAAAAAAAAAAAAAAAAAAGACAGTAATATTGGATCAATGTTAGATTTCCTGATTTTGATCATTGTACTGTGGTGATGTAAGACAACATCCTTGCTTTTAGGAAATGTGCACAGGAATAGTCTGGAGTCAAGGGCAGGCTGTCTCCACTCTAATTTCAGACAGTTCCAAAAAATAATAGTGAGTGTGTACAGAAACAGAATGATAAAGCAAATGTGGCAAAATTTTATTTATTCTTTTTACCTGTTCTTGCAACTTTTCTGTAAGTTTGAAATTATACCAAAACAAAAACAAAAAGAGATGAATCACAGGCCCACAGTGCAACTGGTAATTTAACAAGCATTAGTTGTGCTGGTTAACAGGAAATTCTGTGCATTTACACCCCCAGCTCACAATCCACACAAGTCCCTAGTTTCTTTTCATCATCAACCAGCAGCCCTTTCCCACCCCTGCCCCCAAGCTCTGGACAGCACCTACAGCCTCAGAGAAACAGCACATGCCCCATGCTGGTCCCATAACCTCCAGATCCCCTTATCTCCAATCAGCTGCCAGCCAAAAAGTACTGTCCTGGAGGCTGTCAAGGCTGTGGGAAGATGTTTTAGTGCCACCCTTACCTTCCTCTTACTGCCACCCTTACCTTCCTCTTACTGCCATCCAGTCCAGCAAATTCAATTGTCTTCATGCCGGCGTCAGCCCAGTATAGACGCTGGGACCCATAATCAATAGCTAACCCATTAGGCCAGGTCAGATTAGAAGAGATAATGACTTGGCGGCCTGAGGCATCCATGCCAGCTCGTTCAATCTTGGGGCTCGCACCCCAGTCAGTCCAATACATGTACCTGGGCAAAGGCAAGGCAAGGCAGGTCTTACAAGCTAGTTAATATCCAGCAGGGACTCAGAGTACCTAGGATTTCAGGGTTTCTGCCTGAAGCAGATCCTCATCAGCCTCAGCCTCCTGCATCAGTGTCCAGCCCAGCTCTGGGCTCAGCACTATCTCTGAATGCCTTGTCTTCTATTACTATCAAAAGGTACAGAGTCTTAATAAAAGCAGAGCCCACAGCTTAAGCAAAACTCCACAAATAAAGTGTACATGGGAATAAAGAAAGAGGAGGGGTGAAAATGAATAAGAAACATTTCCTTGGCCAGGCGCCATGGTTCATGCCTATAATCTCAGCACTTTGGGAGGCTGAGAGTATCACTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATAGTAGGATCCCATCTCTACCAAAAAAAAAGGGCCAGATATGGTGGTGCACATCTGTGGTCCCAGCTACTTGAGAGGCTGAGATAGGAGGATCATTTGAATCCAGGAGGTCAAGGCTGCAGTGAGCCATGACTGGGCCACTGCACTCCAGCCTGGGCAACAAGTGAGACTCTGTTTCAAAAAAAAAAGAAAAAAACAAAAAGAGAAATGTTTCTTGACTGGATGGGTTAAATAAGTTAACAGAACTCTATAAAACCAGTAAGAACAACATAGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAAGCAGGACGATTGCTTTAGCTCAGAAGTTTGACACCAGCCTAGACAACATAGCAAGACCCCATCTCTACAAAAAAAAACTGTAAAAATTAGCTAGGCATTGTGGTCTGTGCCTGCAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCGTGATTTGCACCACTGCACTCCATCCTGGGCCACAGAGCAAGACCCTGTCTCAAAACAAACAAACAACAACAACAAAAACAAGGTAGATCTATACACTCAACTGGAAAGACACACAAGATATAAGGGCAAGCAGAAAAAAAGTCACAAAAAGTATGCTATTTTTGTAAAACCAAAACCATCACCACCAACAACAAATGTTTACATACATTTAGAAGAAAACCTGGAAAAAAATATCCTGAACTGTTAACTTATTGCTGGAGAGTGAGATCACAGAGAATTTTTACTTTCTACAGATTTAAATTTTTTTAACAATGAGTTACTTTTGCAAGTAAACCAACAATAAAAAAAAGATAAGGAAAGAAAGAATTGAAAAGTTTCCTTGTCCACAGAGAATACAAAGTTGTCACCAGCTGTTGGGAACAAGCCCCCCAAAATTTGGCCATAAACTGGCCCCCAAAACTGGCCATAAGCAAAATCTCTGCAGCACTGTGACATGTTCATGATGGCCATAACGCCCACACTGGAAGGTTGTGGGTTTACCCGAATGAGGGCAAGGAACACCTGGCCTGCCCAGGGCAGGAAAACTGCTTAAAGGCATTTTTAAGCCATAAACAATAGCATGAGCTATCTGTGCCTTAGGACATGCTCCTGCTGCATTTAACTAGCCCAACCTATTTCTTTAATTCGGCCCACCCCTTCATTTCCCATAAGGGATACTTTTAGTTAATATCTATAGAAACAATGCTAATGACTGGCTTGCTGTTAATAAATATGTGGGTAAATCTCTGTTGGGGGCTCTCAGTTCTGAAGGCTGTGAGACCCCTGATTTCTTACTTCACACCTCTATAGTTCTGTGTGTGTATCTTTAATTCCTCTAGCACCACTGGGTTAGGGTCTCCCCGACAGAG
TTTACAGTGGACACTACCTTAACCATACAATGGCAGTAAGTATCACAATAACGGAACAGGCCAACACCTGTGTCTACTGATGAGACACACTGAGAACTCAAGGACATGACTTCACTTAGTGTAGTATTCCTGCTGCAAATGCACACTCTGAATCCAATCACAAGGAAACATTAGATAAATCCAAGTTGAGAGACATTATAAAAAATAACTGGCCTTTACTCTTTAAAAATGCAAATGTCCACTTTGGGAGGTCCAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCGGGTGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGACAGAGATTGCAGTGAGCTGAGATCGCACCATTGCACGCCAGTCTGGGCGACAGAGCAAGACTCTTGTCTCAAAACAAAACAAACAAACAAAAAATGCAAATGTCAATAAAGTCACAGAAAAGCTGAGGAAATGTTCCAGATTAGAGAGTAAAGAGACTAGATTAGTTGGGCCCGGTGGCGCACAGCTCCAGCTACTCAGGAGCCTCAGATGGGAGGATCACCTGAGCCCAGGTCAGCATGGGCAACACACCAAGACTGCAGTCTCAAAAAAAAAAAAAAAAAAAGCTATGTGTGGTGGCTCATGCCTATAAACCCAACACTTTGGGAGGTCAAAGCAGGAGGATTGCTTGAGCCTAGGAGTTCAAGACTAGCCTAGACAACAAAGTGAGACCCCCATCTCTACAAAAAATAAAAAAATCAGCCGAGTGGCCTCAAACCCGTAGGCTCCTGAGTAGCTAGGGTGCAGTAGTAGGTGCCTGTGGTCCCAGCTACGTGGGAGGATCCCTTGGGCCAGGAGGTCGCAGTTACAGTGGGCCATGTTTGTGGCACTACACTCCTGCCTGGGCCACGGAGTGAGTGTCTAAAAATAAATAAATAAATAAAAATTAAAAGAGACGTAATTACTAAACACAATGGGTGATCCTGATTGGATCCTAGATTAACAAAGAAAAAAAGTGGGGTGGGAGGAGCTATAAAGGACATCACTGAGGCAATTGGTAGTGAAATTGGGCAAGGACTATGATTAGACAGTAATATTGGGCCGGGCATGGTGGCTCGTGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGAAGGATCGTTTGAGGCCAGAAGTTTGAGACTAGCCTGGGTAATACAGGAAGTCTCTACCAAAAAAAAAGAAAAAAACTAGCCAGGCGTTATGGCTCATGCGTGTAGTCTCAGCTACTCAGGATCCTAGTAGGTCGAGGGTGCAGTGACCCAATATTGTGCCACTGCACTCCAGCCTGGGTGACACAGCATGACCCTGCCTCTAAAAAACCAAAAAAAAAAAAAAAAAAAAAAAAAAAGACAGTAATATTGGATCAATGTTAGATTTCCTGATTTTGATCATTGTACTGTGGTGATGTAAGACAACATCCTTGCTTTTAGGAAATGTGCACAGGAATAGTCTGGAGTCAAGGGCAGGCTGTCTCCACTCTAATTTCAGACAGTTCCAAAAAATAATAGTGAGTGTGTACAGAAACAGAATGATAAAGCAAATGTGGCAAAATTTTATTTATTCTTTTTACCTGTTCTTGCAACTTTTCTGTAAGTTTGAAATTATACCAAAACAAAAACAAAAAGAGATGAATCACAGGCCCACAGTGCAACTGGTAATTTAACAAGCATTAGTTGTGCTGGTTAACAGGAAATTCTGTGCATTTACACCCCCAGCTCACAATCCACACAAGTCCCTAGTTTCTTTTCATCATCAACCAGCAGCCCTTTCCCACCCCTGCCCCCAAGCTCTGGACAGCACCTACAGCCTCAGAGAAACAGCACATGCCCCATGCTGGTCCCATAACCTCCAGATCCCCTTATCTCCAATCAGCTGCCAGCCAAAAAGTACTGTCCTGGAGGCTGTCAAGGCTGTGGGAAGATGTTTTAGTGCCACCCTTACCTTCCTCTTACTGCCATCCAGTCCAGCAAATTCAATTGTCTTCATGCCGGCGTCAGCCCAGTATAGACGCTGGGACCCATAATCAATAGCTAACCCATTAGGCCAGGTCAGATTAGAAGAGATAATGACTTGGCGGCCTGAGGCATCCATGCCAGCTCGTTCAATCTTGGGGCTCGCACCCCAGTCAGTCCAATACATGTACCTGGGCAAAGGCAAGGCAAGGCAGGTCTTACAAGCTAGTTAATATCCAGCAGGGACTCAGAGTACCTAGGATTTCAGGGTTTCTGCCTGAAGCAGATCCTCATCAGCCTCAGCCTCCTGCATCAGTGTCCAGCCCAGCTCTGGGCTCAGCACTATCTCTGAATGCCTTGTCTTCTATTACTATCAAAAGGTACAGAGTCTTAATAAAAGCAGAGCCCACAGCTTAAGCAAAACTCCACAAATAAAGTGTACATGGGAATAAAGAAAGAGGAGGGGTGAAAATGAATAAGAAACATTTCCTTGGCCAGGCGCCATGGTTCATGCCTATAATCTCAGCACTTTGGGAGGCTGAGAGTATCACTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATAGTAGGATCCCATCTCTACCAAAAAAAAAGGGCCAGATATGGTGGTGCACATCTGTGGTCCCAGCTACTTGAGAGGCTGAGATAGGAGGATCATTTGAATCCAGGAGGTCAAGGCTGCAGTGAGCCATGACTGGGCCACTGCACTCCAGCCTGGGCAACAAGTGAGACTCTGTTTCAAAAAAAAAAGAAAAAAACAAAAAGAGAAATGTTTCTTGACTGGATGGGTTAAATAAGTTAACAGAACTCTATAAAACCAGTAAGAACAACATAGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAAGCAGGACGATTGCTTTAGCTCAGAAGTTTGACACCAGCCTAGACAACATAGCAAGACCCCATCTCTACAAAAAAAAACTGTAAAAATTAGCTAGGCATTGTGGTCTGTGCCTGCAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCGTGATTTGCACCACTGCACTCCATCCTGGGCCACAGAGCAAGACCCTGTCTCAAAACAAACAAACAACAACAACAAAAACAAGGTAGATCTATACACTCAACTGGAAAGACACACAAGATATAAGGGCAAGCAGAAAAAAAGTCACAAAAAGTATGCTATTTTTGTAAAACCAAAACCATCACCACCAACAACAAATGTTTACATACATTTAGAAGAAAACCTGGAAAAAAATATCCTGAACTGTTAACTTATTGCTGGAGAGTGAGATCACAGAGAATTTTTACTTTCTACAGATTTAAATTTTTTTAACAATGAGTTACTTTTGCAAGTAAACCAACAATAAAAAAAAGATAAGGAAAGAAAGAATTGAAAAGTTTCCTTGTCCACAGAGAATACAAAGTTGTCACCAGCTGTTGGGAACAAGCCCCCCAAAATTTGGCCATAAACTGGCCCCCAAAACTGGCCATAAGCAAAATCTCTGCAGCACTGTGACATGTTCATGATGGCCATAACGCCCACACTGGAAGGTTGTGGGTTTACCCGAATGAGGGCAAGGAACACCTGGCCTGCCCAGGGCAGGAAAACTGCTTAAAGGCATTTTTAAGCCATAAACAATAGCATGAGCTATCTGTGCCTTAGGACATGCTCCTGCTGCATTTAACTAGCCCAACCTATTTCTTTAATTCGGCCCACCCCTTCATTTCCCATAAGGGATACTTTTAGTTAATATCTATAGAAACAATGCTAATGACTGGCTTGCTGTTAATAAATATGTGGGTAAATCTCTGTTGGGGGCTCTCAGTTCTGAAGGCTGTGAGACCCCTGATTTCTTACTTCACACCTCTATAGTTCTGTGTGTGTATCTTTAATTCCTCTAGCACCACTGGGTTAGGGTCTCCCCGACAGAGNNNNNNNNNNNNNNNNNNNNNNN
benign
175,088
For chromosome 11, position 46889545, gene LRP4 (LDL receptor related protein 4): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
benign
GAGACCAGCCTGAGCAACATAGTGGAACCCCGTCTCTACTAAAAATACAAAATTCACTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATAGATCACGAGATCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGTGCCTGTAATCTCAGCTACTTGGGAGCCCAAAGCAGAAGAATCGCTTGAACCAGGGAGGTGGAGGTTACAATGAGCCGAGATCATGCCGCCACACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAACAAAACAAACAAACAAAAAACTCCACAAAATTCGCCAGGTGTGACAGTGTATGCCTGTAGTCCCAGCTACTTAGGGGGCTGGGGCGGGAGGCTTGCTTAAGCCCAGGAAGTCGAAGCTGCAGTGAGCACTGTTTACACCACTGCACTCCAGCCTAGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCCGGGGGCGGTGGCTTATGCCTGTAATCCCAACACTTTGGAAGGCAGAGGCGGGCAGGTCATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTAGTGCACACTTATAATCCCCGCTACTCAGGAGGCTGAGGCAGGAGAAGCACTTGAACCCGGGAGGCGGACAAAAAAAAAAAAAATGCCAGGCACAGTGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCAGACCAACATGGAGAAACCCCGTCCCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGCTTGTAATCCCAGCTATTCAGGAAGCTAAGGCAGGAGAATAGCTTGAACCTGGGAAGTGGAGGTTGTGGTGAGCCGAGACTGTGCCATTGTACTCCAGCCTGGACAAGAGCAAAACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAATGCAAGGGGAAAACTCAGAGAATGAAATTAGGTTCTTAGTTAATATGTGTATGAATGAAACTTTTGAATGTTTTCCCTAACCACACTCTCTAGAAAGGACCCAGGTCCCAGGAGAATTTTATTTTACCCAGATTTCAGAGGGTCAGTGGGGTACACAGCAGTAAACAAGAACAGCTGCTGATGTGTGAGGAATCACCCCAGGTGCCCTGCTGGTCGTGCCATATGCCCGGACCGCTCCTCTCTGGACTATTCTTAGAAAAAGTCATCGTGTGCTGGGCTCTCCAGGGTTACCCTCTCAAAACAATAACTCCTAAGGAGCCCAAAGGAAGCCAAAGTAGCAGTTCAGGGACAGACCAGGGAAGATCCCATGATCTTCCACTTGTTTAACACATATTTATCCAGGACCCGCTTACACAGAACATCATCAGAGATTCTAATTTTGGCTTCCTGGTTTAAGGGCCGAAAGAAAGTCTTCAACAGGGTGACGCTAAAGGTAAAAAGGTAGGAAATCATTCCCCTGTTTTCTAGAAGAGCATAAAACCCTCTTGCTGCCTATAGAGAAGGCAATCCTGCCTGGTAAAATGATACATGAGCCTCACTGCAGGTGTTCACACTCGACCGGGCGGTATTGCTGAGCCTTCAGCCACTAGTGCTGGGTCCTCAGTCCTCAGCTTTGATAGAAGATCCCTCAGCCTCTTAAGTTCTTCCTCTCCAGGGCTCCCTGAGGAATGTGGTTTTTCCCATGACAGGCAATCCCTCCACGTCCTATCCCTTGTTCCTTCTCCCCATCCTCACAACAGCCTCCATGGAGGCTGGTGTTGCAGACCCACTTACTCTGGGCACAGGCGTGGCTGCTGATCTTGCGGAAGCCAGTGGGGCAGGCACAGGTGTAGTTCTGGCCACTGGGCAGACACAGGTGCGTGCAGCCTCCGTTGTTGTCCCCACAGCGGTTTTTCCCTGCTCAAAGAGCCCAGGGCAAGAGGATCAGCGAAGGTCTGCAAAAGTGACCCCAAGACTAGGGAATAGGGGTTTAGGTAGGGTGATAGTTCCCTGAAGGGAGAAACTATGTCTTATATTTTTGACATCTGCCCCTGCTGCTAGCACAGTGAGTACCCGGCACAGAGGAGATGCCCTGTAAATGTCTGCCTGAATTAGATGGGAACGGTGAAGTCTAATGAATCTTTTCGTGAATCTTGTTGTACTGCCCCGAATGTCCAGCAGAGGGAGGAATTAGCCCATGTCAGTGCCCTGCTGGATTTCCCCATCAGAAGAAATGGCAACTCTAAGGGGAAGGAAGGTTCTCAGAGGCACCAGAGGCCACCTCAACCATGAGGCTACTTTGGCTCACCCGGTGGGCAGTTTTTTACCTGCAGGTTGGCGCTGGGGGTGCAAGGTGTGGATGTCCATAGGGAAGTGGAGTTTGTTGCGAATGATTTCCTGGTTCTTCCCCGTAAATTTGTTAGCGCTATTGATGCTCTTGGTGTGCCAGTCTGTCCAGTACAGGCTGTCTTCAAACACTGTGATGGCGAAGGGATGCGGGAGGCCTGGGGAAAGTCCAGGAAGACCTCAGTCTGGACGTGGTCTGCCATGTCCCCTGGGCCCAGGCCTGGCAACTACACAAAACCTCTACCAAGGCTCCTGGGGGGCAGGGACGGGGGCAGGAGGACAAGAGATGAAGGAGACTGAAGGAAGGGGCTCACCCTGGCTAATGACAGCCTTACGGTGACTCCCATCCAGATTGGCCCTCTCGATGACATGGTGCTTAGCATCCACCCAGTACATACGGCGCCCGGCATAGTCGATGGTGAGGCCATTGGGCCAGAAGAGATGGGTATCGGCAATGATGCGGCGTCCAGAGCCATCCATGCTGGAGGCCTCAATACGGGGGGTGTTGCCCCAGTCTGTCCAGTAAATGGTACTAGGAAGAGAAAAGTAAATTGGGAAGTGGGCAGCAGAAAACAGGTAGGTAACCAGGAGAATAATCAGGTAGGGCGCTTTTATCCATTTAACTCAGGGGACTCCAATGTTTGGTCCACAGAATGAATTTTTTTTTTAGACGGGGTCTCATTTTGTCACCCAGGCTGGAGGGCAGGTGAGATTACAGCTCACTGCGGCCTCAATCTCCTGGGCTCAGAAGGCCTCCCACTTCAGCCTTCTGAGCAGCTAGTATCGCTACACCTAACTAATTTTTTTTTGTAGTAGAGATGAGGTCTTGCTATGTTACCCAAGCTGGTCTCAAACTCCTGAGCTCAAGCAATCCTCCTGCTTTGTCCTTTCAAAGTACTGGGATTATAGGCATGAGTCACCATGCCCAGCCTCAGAATGCTTTTTAAGTGTCTGAGTTTAAATGTCTTTAGACAGGGCATTTATTCATTTAATAATTTTTTTTTTCATACTGGCAACAGGCAGGACATACTATCTTAGGCACTGGAAATCTAGCAGTGAACAAAACAGACAAAAGTCTCACAGAATTGACAATATAATGTAATATTAGGACAGGCACTTTCTTCTTTGTCACAATCTCTTCCACTGCCTTTTGTATTTTATTTTCTTTTATTTTTGAGACTCGCTCTGTTGCCCAGGCTGGAATGCAGTGGCACGATTTCAGCTCACTGCAACCTCCACCTCCTGGACCCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCACCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCCCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGGTTACAAGCTTGAGTCACCATGCCCGGCTCCTTTTGTATTTTATACACACACACACACACACACACACACACACACACACAGACACACACACATACACACACACAGTTTCTAAAACAGTTGATACATACTGTAGGACCTTATAAGATACTCCCTCCATTGATTGCATAGAATTTTTAAAAGCCAGAGGTGAGAACTTCATTTCAGGAG
GAGACCAGCCTGAGCAACATAGTGGAACCCCGTCTCTACTAAAAATACAAAATTCACTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATAGATCACGAGATCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGTGCCTGTAATCTCAGCTACTTGGGAGCCCAAAGCAGAAGAATCGCTTGAACCAGGGAGGTGGAGGTTACAATGAGCCGAGATCATGCCGCCACACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAACAAAACAAACAAACAAAAAACTCCACAAAATTCGCCAGGTGTGACAGTGTATGCCTGTAGTCCCAGCTACTTAGGGGGCTGGGGCGGGAGGCTTGCTTAAGCCCAGGAAGTCGAAGCTGCAGTGAGCACTGTTTACACCACTGCACTCCAGCCTAGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCCGGGGGCGGTGGCTTATGCCTGTAATCCCAACACTTTGGAAGGCAGAGGCGGGCAGGTCATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTAGTGCACACTTATAATCCCCGCTACTCAGGAGGCTGAGGCAGGAGAAGCACTTGAACCCGGGAGGCGGACAAAAAAAAAAAAAATGCCAGGCACAGTGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCAGACCAACATGGAGAAACCCCGTCCCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGCTTGTAATCCCAGCTATTCAGGAAGCTAAGGCAGGAGAATAGCTTGAACCTGGGAAGTGGAGGTTGTGGTGAGCCGAGACTGTGCCATTGTACTCCAGCCTGGACAAGAGCAAAACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAATGCAAGGGGAAAACTCAGAGAATGAAATTAGGTTCTTAGTTAATATGTGTATGAATGAAACTTTTGAATGTTTTCCCTAACCACACTCTCTAGAAAGGACCCAGGTCCCAGGAGAATTTTATTTTACCCAGATTTCAGAGGGTCAGTGGGGTACACAGCAGTAAACAAGAACAGCTGCTGATGTGTGAGGAATCACCCCAGGTGCCCTGCTGGTCGTGCCATATGCCCGGACCGCTCCTCTCTGGACTATTCTTAGAAAAAGTCATCGTGTGCTGGGCTCTCCAGGGTTACCCTCTCAAAACAATAACTCCTAAGGAGCCCAAAGGAAGCCAAAGTAGCAGTTCAGGGACAGACCAGGGAAGATCCCATGATCTTCCACTTGTTTAACACATATTTATCCAGGACCCGCTTACACAGAACATCATCAGAGATTCTAATTTTGGCTTCCTGGTTTAAGGGCCGAAAGAAAGTCTTCAACAGGGTGACGCTAAAGGTAAAAAGGTAGGAAATCATTCCCCTGTTTTCTAGAAGAGCATAAAACCCTCTTGCTGCCTATAGAGAAGGCAATCCTGCCTGGTAAAATGATACATGAGCCTCACTGCAGGTGTTCACACTCGACCGGGCGGTATTGCTGAGCCTTCAGCCACTAGTGCTGGGTCCTCAGTCCTCAGCTTTGATAGAAGATCCCTCAGCCTCTTAAGTTCTTCCTCTCCAGGGCTCCCTGAGGAATGTGGTTTTTCCCATGACAGGCAATCCCTCCACGTCCTATCCCTTGTTCCTTCTCCCCATCCTCACAACAGCCTCCATGGAGGCTGGTGTTGCAGACCCACTTACTCTGGGCACAGGCGTGGCTGCTGATCTTGCGGAAGCCAGTGGGGCAGGCACAGGTGTAGTTCTGGCCACTGGGCAGACACAGGTGCGTGCAGCCTCCGTTGTTGTCCCCACAGCGGTTTTTCCCTGCTCAAAGAGCCCCAGGGCAAGAGGATCAGCGAAGGTCTGCAAAAGTGACCCCAAGACTAGGGAATAGGGGTTTAGGTAGGGTGATAGTTCCCTGAAGGGAGAAACTATGTCTTATATTTTTGACATCTGCCCCTGCTGCTAGCACAGTGAGTACCCGGCACAGAGGAGATGCCCTGTAAATGTCTGCCTGAATTAGATGGGAACGGTGAAGTCTAATGAATCTTTTCGTGAATCTTGTTGTACTGCCCCGAATGTCCAGCAGAGGGAGGAATTAGCCCATGTCAGTGCCCTGCTGGATTTCCCCATCAGAAGAAATGGCAACTCTAAGGGGAAGGAAGGTTCTCAGAGGCACCAGAGGCCACCTCAACCATGAGGCTACTTTGGCTCACCCGGTGGGCAGTTTTTTACCTGCAGGTTGGCGCTGGGGGTGCAAGGTGTGGATGTCCATAGGGAAGTGGAGTTTGTTGCGAATGATTTCCTGGTTCTTCCCCGTAAATTTGTTAGCGCTATTGATGCTCTTGGTGTGCCAGTCTGTCCAGTACAGGCTGTCTTCAAACACTGTGATGGCGAAGGGATGCGGGAGGCCTGGGGAAAGTCCAGGAAGACCTCAGTCTGGACGTGGTCTGCCATGTCCCCTGGGCCCAGGCCTGGCAACTACACAAAACCTCTACCAAGGCTCCTGGGGGGCAGGGACGGGGGCAGGAGGACAAGAGATGAAGGAGACTGAAGGAAGGGGCTCACCCTGGCTAATGACAGCCTTACGGTGACTCCCATCCAGATTGGCCCTCTCGATGACATGGTGCTTAGCATCCACCCAGTACATACGGCGCCCGGCATAGTCGATGGTGAGGCCATTGGGCCAGAAGAGATGGGTATCGGCAATGATGCGGCGTCCAGAGCCATCCATGCTGGAGGCCTCAATACGGGGGGTGTTGCCCCAGTCTGTCCAGTAAATGGTACTAGGAAGAGAAAAGTAAATTGGGAAGTGGGCAGCAGAAAACAGGTAGGTAACCAGGAGAATAATCAGGTAGGGCGCTTTTATCCATTTAACTCAGGGGACTCCAATGTTTGGTCCACAGAATGAATTTTTTTTTTAGACGGGGTCTCATTTTGTCACCCAGGCTGGAGGGCAGGTGAGATTACAGCTCACTGCGGCCTCAATCTCCTGGGCTCAGAAGGCCTCCCACTTCAGCCTTCTGAGCAGCTAGTATCGCTACACCTAACTAATTTTTTTTTGTAGTAGAGATGAGGTCTTGCTATGTTACCCAAGCTGGTCTCAAACTCCTGAGCTCAAGCAATCCTCCTGCTTTGTCCTTTCAAAGTACTGGGATTATAGGCATGAGTCACCATGCCCAGCCTCAGAATGCTTTTTAAGTGTCTGAGTTTAAATGTCTTTAGACAGGGCATTTATTCATTTAATAATTTTTTTTTTCATACTGGCAACAGGCAGGACATACTATCTTAGGCACTGGAAATCTAGCAGTGAACAAAACAGACAAAAGTCTCACAGAATTGACAATATAATGTAATATTAGGACAGGCACTTTCTTCTTTGTCACAATCTCTTCCACTGCCTTTTGTATTTTATTTTCTTTTATTTTTGAGACTCGCTCTGTTGCCCAGGCTGGAATGCAGTGGCACGATTTCAGCTCACTGCAACCTCCACCTCCTGGACCCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCACCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCCCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGGTTACAAGCTTGAGTCACCATGCCCGGCTCCTTTTGTATTTTATACACACACACACACACACACACACACACACACACACAGACACACACACATACACACACACAGTTTCTAAAACAGTTGATACATACTGTAGGACCTTATAAGATACTCCCTCCATTGATTGCATAGAATTTTTAAAAGCCAGAGGTGAGAACTTCATTTCAGGA
benign
175,097
The chromosome 11, position 46899505 genetic variant in gene LRP4 (LDL receptor related protein 4): benign or pathogenic? If pathogenic, indicate disease(s).
benign
GGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCGGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTATACTTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCTCCTTTCTATTCCACAAAACCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCTGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGACCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGATTGTCTTGTTTTTTGAGATGTCATCTCACTCTGCTACAGGGACGCCGTCTCGGGTCACTGCAACCTCTGCCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCCAGCTAAGTTTTGTATTTTTAGTAGAGATGGGGTTTAACCATGTTACCCAGGCTGGTCTTGAACTCCTGACCTCAAGCAATCCACCCACCTTGGTCTCCCAAAGTGCTGGCATTATAAGCATGAGCCACCGCGCCCAGCCGGTAGTGGCCTCTTTGGCTCCACAAGCCTTCTCCTTAGTTCAAGCCCAACCTAATTCCATTTCCCCACTCACTGCAGTTGCGCTCATCAGACTGGTCATCACAGTCCGCGTCACCATCGCAGCGCCAGCCTGCATTGATGCACAGGCCACTGTCACACATGAACTCCCCAGAGCGGCAGGGCTGGTGGGAGGCTAGGGAAACACAAGACTTCTGTCTCTAGCCAGTCTGTGCAGTGTCCCATGGCAGACTAGAAGGCCACAGCCCCAGAATCCCAGTTCCTCCATCTCTTCCCAAGAGGGACCAGAAAATCCAGAAACTCCTCTCTGAACTCCTGCCCCAGCTGGCGACTGTGCCTTGCCACCCAAGCAGTTCTTCCCAGCCTGGCCTCCCCACCTCCCAGCTGGCCAGAGTACTCACAGCAGTCAGACTCGTCTGACCAGTCTCCACAGTCATCGTCGCCATCGCAGTGGTAGATGTCGAGGATGCAGCGTCCATAGGCACACTGGAACTCCTCCAGGTTGCAGGGGGGCGCTGGCACTGCTGAGGCTGGAGGGAAGGCAGGGGTGGGGAGGGGCACACACTCAGGCCTGGATGAAGGAGAGGGGCCCTGATTCCTCAAGCAGGCAGGATGCTCAGGCAGGAGAGCTTCTTCAAGTGAGATGTAACCAGGTTTCATCTGGGACAGCCCTTATAGACGCCCATATTCAGGTGGACCAAAGGAAGCCTTCCCTTCCCACCTGGGGAACTTGCTCCCTCCCTAGCTCAGCCTAGGAGGAGCTGCTGCTGAGGCACCCATGCTCCTTGCCCTTGGTACATGCACTCCTCAGCCTCGCCCTTAGCCAATGGGCAGAACTGTCTGCCCTCATCCAACCCAACAGCCTGAGGTCTGGGGCCACTCACGACAGTTCTCCTCATCGGAGCCATCTTTGCAGTCGGTGTCACCGTCGCAGTACCAATGCTCAGCAATGCAGCTTCCGTCACTACAGCGGAACTCCTTGTCGGAGCACTTGCGCATGTCTGGGGGGATGCGATGGGACAGCAGTTCTGAGGGGGCCCCACAGGCAACCCTCTCACCCTCCTCTCTGACTCCCAACCTCACTGGCTTTGGCGGGTCTGACCTAGCCCCCGAAAGGCACCCCAGAGTCAGTGCAGACTCTCCAGGGAGAACGGAGGCCCTGGAGAGACTGGGCCTCAGCCTCCTGGTCCACAGTTTCTGGGGGGTCTGAGCGGCTCTGCCCCCTCTGCGTTCCTCTAGCTGCTCCAGATATCTGGGCAGTTGGAGGTTTGGCAGTGCTAGGGCCATTGCTGCTATCTTCTCCCATGGCCAGGCCACCCACTGGCCACCTTGCCTGCCTTCCCCCGTTGGGGTCACCCACCACACTGCTCATCGCTGTTGTCGCCACAGTCATTGTCACCATCGCAGTGCCACAGACTCCGGATGCAGTAGCCATTCTGGCAGGGAAACTCGTCCTCCTCACACTCCCGGGGGGCTGTGGGCACAGAGCAGTCAGGCTGCTGCAGGCAGTGGGGGTCTGGTGCCTGGAAGCCTGACTTAAAGCCCTCCGGAGCAGTCAAGTAGCTCCAGTGCTGCCCTGAGGGCTCCGAAGGAGGTGGCTGCCTCTCAGCAGCTTATCTGACTTCGAGAGGAAGTGAAAGGACAGGACAAAGTGCTGAAAACACAAGGGCTCATGTGGACCTGGGGCATTGCTTTCTGATTGAAAATCCTTTCCCAGTGGAACTCAATGGAGTTCCGCCCAGCCTCTGCCAACACTCACGACAGTCCTGCTCATCCGAGTCATCCTCACAGTCGTTGTCCCCGTCACACACCCAGGAGCGGCGGATGCACTTGCCATTGTCACAGTGAAAGTCAAGAGGGGAACAGGTAGGTAGTACTGAATCCCAGGAAAAGAAAAGAAAAGTCAATCAACCTGGTATTCTTACTCAGGCTCAACTAGGCCAGATAGCCTTTTGCTCCAAATCCCCTTGTCTTTTTTTCTTTTTTTGAGACCGAGTCTTACTCTGTCACCCAGGTTGGAGTACAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTCCTGGTTCAGGCGATTCTGACTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCTTCACCACACCTGGCTAGGTTTTTTTGGTTTTTGTTTTTGTTTTTTGCATTTTTAGTAGAGACAGGGTTTTGTCGTGTTGGCCAGGCTGGTCTCAAACCCCCGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATGGCGCCTGGCCTTTTTTTTTTTTTTGAAACAGAGTCTGACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACCACCGCCTCCTGGGTTCAAGGAATTCTCATGCCTCAGCCTCCCGAGTAGCTGGTGTTACAGGTGCCCGCTGCCACACCCAGCTATCTTTTTTTTTGTGTGTATTTTTAGTAGAGGTGGGTTTTCGCCATGTTGGCCAGGCCAGTCTCGAACTCCTGGCCTCAAGAGATCCACCTGCCTTGGCCTCCCAAACTGTTGGGATTACAGGCGTGAGCCACCACACCCAGCCCCCTTGTCTGTTTTATAGTCCTTCCTTACTGACTCCTAGGCCCATCCCCAGCTGATGGAGAAGCTAAGCAGAAACTGCAGCTAAGACAGAGATTCAAAAGGTAATTGTGGTGAGGGGTTCACAGGGTAGGGGAAGAACAACCCAAAGAACTCACAGGAGCTAAGAAAACATAAGAAAAACATGAGCAAGAGAAAGAAGCGCCTTTTTCCCCTCCTTTCCTCTTGTTAAATGATGATTGACACACCCGGGCTCAATTTCCAGTTCATTACGTAACACTCTGAGCAAGTCATTTACCCTCTCTGAGCTGAAGTCTTTTTGGCTGTACAATGGGGATAATTATACTCAGTTCATAGAGGCCTTTTGATATAATGCCTATGAAAATGCTACATGAAAGTGAAGCATTTATCATCAACACAATTAGCTGAACTGGTTAGGGTTAATGAGGTCCAGGTTGTAC
GGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCGGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTATACTTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCTCCTTTCTATTCCACAAAACCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCTGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGACCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGATTGTCTTGTTTTTTGAGATGTCATCTCACTCTGCTACAGGGACGCCGTCTCGGGTCACTGCAACCTCTGCCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCCAGCTAAGTTTTGTATTTTTAGTAGAGATGGGGTTTAACCATGTTACCCAGGCTGGTCTTGAACTCCTGACCTCAAGCAATCCACCCACCTTGGTCTCCCAAAGTGCTGGCATTATAAGCATGAGCCACCGCGCCCAGCCGGTAGTGGCCTCTTTGGCTCCACAAGCCTTCTCCTTAGTTCAAGCCCAACCTAATTCCATTTCCCCACTCACTGCAGTTGCGCTCATCAGACTGGTCATCACAGTCCGCGTCACCATCGCAGCGCCAGCCTGCATTGATGCACAGGCCACTGTCACACATGAACTCCCCAGAGCGGCAGGGCTGGTGGGAGGCTAGGGAAACACAAGACTTCTGTCTCTAGCCAGTCTGTGCAGTGTCCCATGGCAGACTAGAAGGCCACAGCCCCAGAATCCCAGTTCCTCCATCTCTTCCCAAGAGGGACCAGAAAATCCAGAAACTCCTCTCTGAACTCCTGCCCCAGCTGGCGACTGTGCCTTGCCACCCAAGCAGTTCTTCCCAGCCTGGCCTCCCCACCTCCCAGCTGGCCAGAGTACTCACAGCAGTCAGACTCGTCTGACCAGTCTCCACAGTCATCGTCGCCATCGCAGTGGTAGATGTCGAGGATGCAGCGTCCATAGGCACACTGGAACTCCTCCAGGTTGCAGGGGGGCGCTGGCACTGCTGAGGCTGGAGGGAAGGCAGGGGTGGGGAGGGGCACACACTCAGGCCTGGATGAAGGAGAGGGGCCCTGATTCCTCAAGCAGGCAGGATGCTCAGGCAGGAGAGCTTCTTCAAGTGAGATGTAACCAGGTTTCATCTGGGACAGCCCTTATAGACGCCCATATTCAGGTGGACCAAAGGAAGCCTTCCCTTCCCACCTGGGGAACTTGCTCCCTCCCTAGCTCAGCCTAGGAGGAGCTGCTGCTGAGGCACCCATGCTCCTTGCCCTTGGTACATGCACTCCTCAGCCTCGCCCTTAGCCAATGGGCAGAACTGTCTGCCCTCATCCAACCCAACAGCCTGAGGTCTGGGGCCACTCACGACAGTTCTCCTCATCGGAGCCATCTTTGCAGTCGGTGTCACCGTCGCAGTACCAATGCTCAGCAATGCAGCTTCCGTCACTACAGCGGAACTCCTTGTCGGAGCACTTGCGCATGTCTGGGGGATGCGATGGGACAGCAGTTCTGAGGGGGCCCCACAGGCAACCCTCTCACCCTCCTCTCTGACTCCCAACCTCACTGGCTTTGGCGGGTCTGACCTAGCCCCCGAAAGGCACCCCAGAGTCAGTGCAGACTCTCCAGGGAGAACGGAGGCCCTGGAGAGACTGGGCCTCAGCCTCCTGGTCCACAGTTTCTGGGGGGTCTGAGCGGCTCTGCCCCCTCTGCGTTCCTCTAGCTGCTCCAGATATCTGGGCAGTTGGAGGTTTGGCAGTGCTAGGGCCATTGCTGCTATCTTCTCCCATGGCCAGGCCACCCACTGGCCACCTTGCCTGCCTTCCCCCGTTGGGGTCACCCACCACACTGCTCATCGCTGTTGTCGCCACAGTCATTGTCACCATCGCAGTGCCACAGACTCCGGATGCAGTAGCCATTCTGGCAGGGAAACTCGTCCTCCTCACACTCCCGGGGGGCTGTGGGCACAGAGCAGTCAGGCTGCTGCAGGCAGTGGGGGTCTGGTGCCTGGAAGCCTGACTTAAAGCCCTCCGGAGCAGTCAAGTAGCTCCAGTGCTGCCCTGAGGGCTCCGAAGGAGGTGGCTGCCTCTCAGCAGCTTATCTGACTTCGAGAGGAAGTGAAAGGACAGGACAAAGTGCTGAAAACACAAGGGCTCATGTGGACCTGGGGCATTGCTTTCTGATTGAAAATCCTTTCCCAGTGGAACTCAATGGAGTTCCGCCCAGCCTCTGCCAACACTCACGACAGTCCTGCTCATCCGAGTCATCCTCACAGTCGTTGTCCCCGTCACACACCCAGGAGCGGCGGATGCACTTGCCATTGTCACAGTGAAAGTCAAGAGGGGAACAGGTAGGTAGTACTGAATCCCAGGAAAAGAAAAGAAAAGTCAATCAACCTGGTATTCTTACTCAGGCTCAACTAGGCCAGATAGCCTTTTGCTCCAAATCCCCTTGTCTTTTTTTCTTTTTTTGAGACCGAGTCTTACTCTGTCACCCAGGTTGGAGTACAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTCCTGGTTCAGGCGATTCTGACTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCTTCACCACACCTGGCTAGGTTTTTTTGGTTTTTGTTTTTGTTTTTTGCATTTTTAGTAGAGACAGGGTTTTGTCGTGTTGGCCAGGCTGGTCTCAAACCCCCGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATGGCGCCTGGCCTTTTTTTTTTTTTTGAAACAGAGTCTGACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACCACCGCCTCCTGGGTTCAAGGAATTCTCATGCCTCAGCCTCCCGAGTAGCTGGTGTTACAGGTGCCCGCTGCCACACCCAGCTATCTTTTTTTTTGTGTGTATTTTTAGTAGAGGTGGGTTTTCGCCATGTTGGCCAGGCCAGTCTCGAACTCCTGGCCTCAAGAGATCCACCTGCCTTGGCCTCCCAAACTGTTGGGATTACAGGCGTGAGCCACCACACCCAGCCCCCTTGTCTGTTTTATAGTCCTTCCTTACTGACTCCTAGGCCCATCCCCAGCTGATGGAGAAGCTAAGCAGAAACTGCAGCTAAGACAGAGATTCAAAAGGTAATTGTGGTGAGGGGTTCACAGGGTAGGGGAAGAACAACCCAAAGAACTCACAGGAGCTAAGAAAACATAAGAAAAACATGAGCAAGAGAAAGAAGCGCCTTTTTCCCCTCCTTTCCTCTTGTTAAATGATGATTGACACACCCGGGCTCAATTTCCAGTTCATTACGTAACACTCTGAGCAAGTCATTTACCCTCTCTGAGCTGAAGTCTTTTTGGCTGTACAATGGGGATAATTATACTCAGTTCATAGAGGCCTTTTGATATAATGCCTATGAAAATGCTACATGAAAGTGAAGCATTTATCATCAACACAATTAGCTGAACTGGTTAGGGTTAATGAGGTCCAGGTTGTACN
benign
175,132
The mutation in gene LRP4 (LDL receptor related protein 4) at chromosome 11, position 46900389—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
benign
ACACCCAGCTAAGTTTTGTATTTTTAGTAGAGATGGGGTTTAACCATGTTACCCAGGCTGGTCTTGAACTCCTGACCTCAAGCAATCCACCCACCTTGGTCTCCCAAAGTGCTGGCATTATAAGCATGAGCCACCGCGCCCAGCCGGTAGTGGCCTCTTTGGCTCCACAAGCCTTCTCCTTAGTTCAAGCCCAACCTAATTCCATTTCCCCACTCACTGCAGTTGCGCTCATCAGACTGGTCATCACAGTCCGCGTCACCATCGCAGCGCCAGCCTGCATTGATGCACAGGCCACTGTCACACATGAACTCCCCAGAGCGGCAGGGCTGGTGGGAGGCTAGGGAAACACAAGACTTCTGTCTCTAGCCAGTCTGTGCAGTGTCCCATGGCAGACTAGAAGGCCACAGCCCCAGAATCCCAGTTCCTCCATCTCTTCCCAAGAGGGACCAGAAAATCCAGAAACTCCTCTCTGAACTCCTGCCCCAGCTGGCGACTGTGCCTTGCCACCCAAGCAGTTCTTCCCAGCCTGGCCTCCCCACCTCCCAGCTGGCCAGAGTACTCACAGCAGTCAGACTCGTCTGACCAGTCTCCACAGTCATCGTCGCCATCGCAGTGGTAGATGTCGAGGATGCAGCGTCCATAGGCACACTGGAACTCCTCCAGGTTGCAGGGGGGCGCTGGCACTGCTGAGGCTGGAGGGAAGGCAGGGGTGGGGAGGGGCACACACTCAGGCCTGGATGAAGGAGAGGGGCCCTGATTCCTCAAGCAGGCAGGATGCTCAGGCAGGAGAGCTTCTTCAAGTGAGATGTAACCAGGTTTCATCTGGGACAGCCCTTATAGACGCCCATATTCAGGTGGACCAAAGGAAGCCTTCCCTTCCCACCTGGGGAACTTGCTCCCTCCCTAGCTCAGCCTAGGAGGAGCTGCTGCTGAGGCACCCATGCTCCTTGCCCTTGGTACATGCACTCCTCAGCCTCGCCCTTAGCCAATGGGCAGAACTGTCTGCCCTCATCCAACCCAACAGCCTGAGGTCTGGGGCCACTCACGACAGTTCTCCTCATCGGAGCCATCTTTGCAGTCGGTGTCACCGTCGCAGTACCAATGCTCAGCAATGCAGCTTCCGTCACTACAGCGGAACTCCTTGTCGGAGCACTTGCGCATGTCTGGGGGGATGCGATGGGACAGCAGTTCTGAGGGGGCCCCACAGGCAACCCTCTCACCCTCCTCTCTGACTCCCAACCTCACTGGCTTTGGCGGGTCTGACCTAGCCCCCGAAAGGCACCCCAGAGTCAGTGCAGACTCTCCAGGGAGAACGGAGGCCCTGGAGAGACTGGGCCTCAGCCTCCTGGTCCACAGTTTCTGGGGGGTCTGAGCGGCTCTGCCCCCTCTGCGTTCCTCTAGCTGCTCCAGATATCTGGGCAGTTGGAGGTTTGGCAGTGCTAGGGCCATTGCTGCTATCTTCTCCCATGGCCAGGCCACCCACTGGCCACCTTGCCTGCCTTCCCCCGTTGGGGTCACCCACCACACTGCTCATCGCTGTTGTCGCCACAGTCATTGTCACCATCGCAGTGCCACAGACTCCGGATGCAGTAGCCATTCTGGCAGGGAAACTCGTCCTCCTCACACTCCCGGGGGGCTGTGGGCACAGAGCAGTCAGGCTGCTGCAGGCAGTGGGGGTCTGGTGCCTGGAAGCCTGACTTAAAGCCCTCCGGAGCAGTCAAGTAGCTCCAGTGCTGCCCTGAGGGCTCCGAAGGAGGTGGCTGCCTCTCAGCAGCTTATCTGACTTCGAGAGGAAGTGAAAGGACAGGACAAAGTGCTGAAAACACAAGGGCTCATGTGGACCTGGGGCATTGCTTTCTGATTGAAAATCCTTTCCCAGTGGAACTCAATGGAGTTCCGCCCAGCCTCTGCCAACACTCACGACAGTCCTGCTCATCCGAGTCATCCTCACAGTCGTTGTCCCCGTCACACACCCAGGAGCGGCGGATGCACTTGCCATTGTCACAGTGAAAGTCAAGAGGGGAACAGGTAGGTAGTACTGAATCCCAGGAAAAGAAAAGAAAAGTCAATCAACCTGGTATTCTTACTCAGGCTCAACTAGGCCAGATAGCCTTTTGCTCCAAATCCCCTTGTCTTTTTTTCTTTTTTTGAGACCGAGTCTTACTCTGTCACCCAGGTTGGAGTACAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTCCTGGTTCAGGCGATTCTGACTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCTTCACCACACCTGGCTAGGTTTTTTTGGTTTTTGTTTTTGTTTTTTGCATTTTTAGTAGAGACAGGGTTTTGTCGTGTTGGCCAGGCTGGTCTCAAACCCCCGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATGGCGCCTGGCCTTTTTTTTTTTTTTGAAACAGAGTCTGACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACCACCGCCTCCTGGGTTCAAGGAATTCTCATGCCTCAGCCTCCCGAGTAGCTGGTGTTACAGGTGCCCGCTGCCACACCCAGCTATCTTTTTTTTTGTGTGTATTTTTAGTAGAGGTGGGTTTTCGCCATGTTGGCCAGGCCAGTCTCGAACTCCTGGCCTCAAGAGATCCACCTGCCTTGGCCTCCCAAACTGTTGGGATTACAGGCGTGAGCCACCACACCCAGCCCCCTTGTCTGTTTTATAGTCCTTCCTTACTGACTCCTAGGCCCATCCCCAGCTGATGGAGAAGCTAAGCAGAAACTGCAGCTAAGACAGAGATTCAAAAGGTAATTGTGGTGAGGGGTTCACAGGGTAGGGGAAGAACAACCCAAAGAACTCACAGGAGCTAAGAAAACATAAGAAAAACATGAGCAAGAGAAAGAAGCGCCTTTTTCCCCTCCTTTCCTCTTGTTAAATGATGATTGACACACCCGGGCTCAATTTCCAGTTCATTACGTAACACTCTGAGCAAGTCATTTACCCTCTCTGAGCTGAAGTCTTTTTGGCTGTACAATGGGGATAATTATACTCAGTTCATAGAGGCCTTTTGATATAATGCCTATGAAAATGCTACATGAAAGTGAAGCATTTATCATCAACACAATTAGCTGAACTGGTTAGGGTTAATGAGGTCCAGGTTGTACCTCCGTTCCCATTAGACTAATTAGCCACCCTCAGACATAGATGCTACAGGTAGGTCAGAGATTGCGCCTCTAATCCAGACTATTGGCTTAGCAGGGATATTTCTATATATCCAAGACAGGTCACCCTGGCCAACTGTGCAGATGTTACCATGCTAGGGGAAAAGGGAGACTTAAGGAAAATATAAGTTTTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAATCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGTCTCCCGGGTTTACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCTCAGGTGCCTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAATAGAGACAGGGTTTCAGCGTATTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCTAAGAAAATATAAGATTTCTTACAAAGTTACTAAGAAAGGTGTGGCTGGGCGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGCTGGATCACTTGAAGTCATGAGTTCGAGACCAGCCTGGCCAAAATGTTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCTAGACTGTGCCCCTGCACTCCAGCCTGGGAAACAGAATGAGACTCTGTATCAAAAAAAAAAAAAAAAAAAGGTTTTATTGTACAAAATACCAAAATAAGAAACATAGAAATAATCCACATTTGTGTATA
ACACCCAGCTAAGTTTTGTATTTTTAGTAGAGATGGGGTTTAACCATGTTACCCAGGCTGGTCTTGAACTCCTGACCTCAAGCAATCCACCCACCTTGGTCTCCCAAAGTGCTGGCATTATAAGCATGAGCCACCGCGCCCAGCCGGTAGTGGCCTCTTTGGCTCCACAAGCCTTCTCCTTAGTTCAAGCCCAACCTAATTCCATTTCCCCACTCACTGCAGTTGCGCTCATCAGACTGGTCATCACAGTCCGCGTCACCATCGCAGCGCCAGCCTGCATTGATGCACAGGCCACTGTCACACATGAACTCCCCAGAGCGGCAGGGCTGGTGGGAGGCTAGGGAAACACAAGACTTCTGTCTCTAGCCAGTCTGTGCAGTGTCCCATGGCAGACTAGAAGGCCACAGCCCCAGAATCCCAGTTCCTCCATCTCTTCCCAAGAGGGACCAGAAAATCCAGAAACTCCTCTCTGAACTCCTGCCCCAGCTGGCGACTGTGCCTTGCCACCCAAGCAGTTCTTCCCAGCCTGGCCTCCCCACCTCCCAGCTGGCCAGAGTACTCACAGCAGTCAGACTCGTCTGACCAGTCTCCACAGTCATCGTCGCCATCGCAGTGGTAGATGTCGAGGATGCAGCGTCCATAGGCACACTGGAACTCCTCCAGGTTGCAGGGGGGCGCTGGCACTGCTGAGGCTGGAGGGAAGGCAGGGGTGGGGAGGGGCACACACTCAGGCCTGGATGAAGGAGAGGGGCCCTGATTCCTCAAGCAGGCAGGATGCTCAGGCAGGAGAGCTTCTTCAAGTGAGATGTAACCAGGTTTCATCTGGGACAGCCCTTATAGACGCCCATATTCAGGTGGACCAAAGGAAGCCTTCCCTTCCCACCTGGGGAACTTGCTCCCTCCCTAGCTCAGCCTAGGAGGAGCTGCTGCTGAGGCACCCATGCTCCTTGCCCTTGGTACATGCACTCCTCAGCCTCGCCCTTAGCCAATGGGCAGAACTGTCTGCCCTCATCCAACCCAACAGCCTGAGGTCTGGGGCCACTCACGACAGTTCTCCTCATCGGAGCCATCTTTGCAGTCGGTGTCACCGTCGCAGTACCAATGCTCAGCAATGCAGCTTCCGTCACTACAGCGGAACTCCTTGTCGGAGCACTTGCGCATGTCTGGGGGGATGCGATGGGACAGCAGTTCTGAGGGGGCCCCACAGGCAACCCTCTCACCCTCCTCTCTGACTCCCAACCTCACTGGCTTTGGCGGGTCTGACCTAGCCCCCGAAAGGCACCCCAGAGTCAGTGCAGACTCTCCAGGGAGAACGGAGGCCCTGGAGAGACTGGGCCTCAGCCTCCTGGTCCACAGTTTCTGGGGGGTCTGAGCGGCTCTGCCCCCTCTGCGTTCCTCTAGCTGCTCCAGATATCTGGGCAGTTGGAGGTTTGGCAGTGCTAGGGCCATTGCTGCTATCTTCTCCCATGGCCAGGCCACCCACTGGCCACCTTGCCTGCCTTCCCCCGTTGGGGTCACCCACCACACTGCTCATCGCTGTTGTCGCCACAGTCATTGTCACCATCGCAGTGCCACAGACTCCGGATGCAGTAGCCATTCTGGCAGGGAAACTCGTCCTCCTCACACTCCCGGGGGGCTGTGGGCACAGAGCAGTCAGGCTGCTGCAGGCAGTGGGGGTCTGGTGCCTGGAAGCCTGACTTAAAGCCCTCCGGAGCAGTCAAGTAGCTCCAGTGCTGCCCTGAGGGCTCCGAAGGAGGTGGCTGCCTCTCAGCAGCTTATCTGACTTCGAGAGGAAGTGAAAGGACAGGACAAAGTGCTGAAAACACAAGGGCTCATGTGGACCTGGGGCATTGCTTTCTGATTGAAAATCCTTTCCCAGTGGAACTCAATGGAGTTCCGCCCAGCCTCTGCCAACACTCACGACAGTCCTGCTCATCCGAGTCATCCTCACAGTCGTTGTCCCCGTCACACACCCAGGAGCGGCGGATGCACTTGCCATTGTCACAGTGAAAGTCAAGAGGGGAACAGGTAGGTAGTACTGAATCCCAGGAAAAGAAAAGTCAATCAACCTGGTATTCTTACTCAGGCTCAACTAGGCCAGATAGCCTTTTGCTCCAAATCCCCTTGTCTTTTTTTCTTTTTTTGAGACCGAGTCTTACTCTGTCACCCAGGTTGGAGTACAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTCCTGGTTCAGGCGATTCTGACTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCTTCACCACACCTGGCTAGGTTTTTTTGGTTTTTGTTTTTGTTTTTTGCATTTTTAGTAGAGACAGGGTTTTGTCGTGTTGGCCAGGCTGGTCTCAAACCCCCGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATGGCGCCTGGCCTTTTTTTTTTTTTTGAAACAGAGTCTGACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACCACCGCCTCCTGGGTTCAAGGAATTCTCATGCCTCAGCCTCCCGAGTAGCTGGTGTTACAGGTGCCCGCTGCCACACCCAGCTATCTTTTTTTTTGTGTGTATTTTTAGTAGAGGTGGGTTTTCGCCATGTTGGCCAGGCCAGTCTCGAACTCCTGGCCTCAAGAGATCCACCTGCCTTGGCCTCCCAAACTGTTGGGATTACAGGCGTGAGCCACCACACCCAGCCCCCTTGTCTGTTTTATAGTCCTTCCTTACTGACTCCTAGGCCCATCCCCAGCTGATGGAGAAGCTAAGCAGAAACTGCAGCTAAGACAGAGATTCAAAAGGTAATTGTGGTGAGGGGTTCACAGGGTAGGGGAAGAACAACCCAAAGAACTCACAGGAGCTAAGAAAACATAAGAAAAACATGAGCAAGAGAAAGAAGCGCCTTTTTCCCCTCCTTTCCTCTTGTTAAATGATGATTGACACACCCGGGCTCAATTTCCAGTTCATTACGTAACACTCTGAGCAAGTCATTTACCCTCTCTGAGCTGAAGTCTTTTTGGCTGTACAATGGGGATAATTATACTCAGTTCATAGAGGCCTTTTGATATAATGCCTATGAAAATGCTACATGAAAGTGAAGCATTTATCATCAACACAATTAGCTGAACTGGTTAGGGTTAATGAGGTCCAGGTTGTACCTCCGTTCCCATTAGACTAATTAGCCACCCTCAGACATAGATGCTACAGGTAGGTCAGAGATTGCGCCTCTAATCCAGACTATTGGCTTAGCAGGGATATTTCTATATATCCAAGACAGGTCACCCTGGCCAACTGTGCAGATGTTACCATGCTAGGGGAAAAGGGAGACTTAAGGAAAATATAAGTTTTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAATCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGTCTCCCGGGTTTACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCTCAGGTGCCTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAATAGAGACAGGGTTTCAGCGTATTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCTAAGAAAATATAAGATTTCTTACAAAGTTACTAAGAAAGGTGTGGCTGGGCGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGCTGGATCACTTGAAGTCATGAGTTCGAGACCAGCCTGGCCAAAATGTTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCTAGACTGTGCCCCTGCACTCCAGCCTGGGAAACAGAATGAGACTCTGTATCAAAAAAAAAAAAAAAAAAAGGTTTTATTGTACAAAATACCAAAATAAGAAACATAGAAATAATCCACATTTGTGTATANNNNN
benign
175,143
Is the variant located on chromosome 11 at position 47215219, gene DDB2, benign or pathogenic? If pathogenic, specify the disease(s) linked.
pathogenic; ['Xeroderma_pigmentosum,_group_E']
TCCTAGGTGGACACCCAACAGGTTAGGCAAGTCTTAGTTAAAAGCAGTGAGAGGCCAAGAGGCTGGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAGAAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAATACAAAAAATTAGTCAGGCGTGGTGGTGTGTGCCTCTAGTCCCAGCTGCTCCGGAGACTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCGGAGATTGCAGTGAGCCGAGATTGTGCCACTGCACTCCGGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGCAGTGAGGAGGCTGGGCACAGTGGCTCACACCTGTAATCTCAGCACTTTGGCAGACCGAGGTGGATGGATGCCAGGAGTTCTAGACCAGCCTAGGCAACTTAGGGAGACTCTGTCTCTACAAAAAATGCAAAAATTAGCTGAGTGTTGCGGCGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCGATGTCCAGGAAGTCCAGCCTGCATTGAGCCCACATCCTGCCACTGCACTCCAGCCTGGGTGACAGAGAGAGGCCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAAAATAAAAACAGCCAACGACCAAACAAATAAAAGAGCAGTGAGAACCAGACACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGAGGATCACTTGAGCCCAGGAGGTCCAGACCAACGTGGGAAACATAGCAAGACCTTGTCTCTACAAAAATAAAAATAAAAAAATTAGGCTTGGGGATACAGGTCTGCAAGCCTACTTGGGAGGCTGAGGTGGGAGGATCAGTGAAACTTGAGGTCAAGGCTGCAGTGAGCTGTGATTACATCACTGCACTCCAGCCTGGGTAACGGAAGAGAGACACTGCCTCTAGGAAAAAAAAAAAAAAAAAAAAAAAAAGGCAAGGAGTTCCAATCATTCTCCCTTCACAGAGAAGCAGCTTGGATTCGATGGGACTGTAGTTTCTGGAATCCGACTGCAAAGCTGACCGCTGGTAGAGCCCAGCTTCTAACTTAGGAAAGGCACTAGCTCTCTACAAAGCCGCCACTCCCCAACTACACCCTGTAGGGACCAGCCAATCCCAAAGCCCGAGCGGGCGTCATCACCAATTGCAAGGCGGGAGACAGAGCCTTGGCTGGCACCGGGCCTCCTCCCCGGACCCGCAGAGGCCTGGCAGCGCCGCGTTTGAGGAGGGTTCGTGTCAGGAAGTCAAGGCTGGATGATCGCTTAAGCCCAGGAGTTAAAGACCGGCCCGGACAACAAAGCGAGACCCCGTCTCTCCAGAAAAAGAAAAAAAGAGAGAGAGAGAGAGAAATTAGCCGGGCGTGGTGGCGTACGCTTGTAGTCCCATCTACTTAGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTGGAGGCTGCACTGAGCTATGATCGCCCCACTGCCCTCCAGAGTGAGCGACAGAGCCAGACCCTGTTGCTAAAAAAAAAAAAAAAATCCATAAAGCCGGGGACCATCTTTGCTCCAGGGAGGTCAGCTGACCCGGGCTGGCACTGGCCCTGGCGCAGTTCCCGCCCCTCCCGGGAGCGCTGGCACCGCCCCTTGGCACCACCCCCTCCCCGCGCCCCCGCCTTCCAGGAAGGGGCGGGGTCTCCGAGACGGGTGGGGCCGGAGCTCCAAGCTGGTTTGAACAAGCCCTGGGCATGTTTGGCGGGAAGTTGGCTTAGCTCGGCTACCTGTGGCCCCGCAGTTTTGTAGTCCCCGCCTTGTTTCTCCCCAGAGGCCTCTCAATCCTCCCTCCATGATCTTCGCATAGAGCACAGTACCCCTTCACACGGAGGACGCGATGGCTCCCAAGAAACGCCCAGAAACCCAGAAGACCTCCGAGATTGTATTACGCCCCAGGAACAAGAGGAGCAGGAGTCCCCTGGAGCTGGAGCCCGAGGCCAAGAAGCTCTGTGCGAAGGGCTCCGGTACTGCCTGTGCCTGCTGCTTGAATATTTCCGCCTTTTAGGGTGCTCGCGCAGGAGGCTGCAGCGGGGGATGGGTGCTCCGAGGCTCCCGAGGCCCGCGCAGGTCACGGGTGCCTCCGGCTGTGCATTCTACCTGCAGGTCCTTTGACACCAGAGTGTTTAGGTTTCAACACCTCTCCCGCTAGGTAACAGGAAGCAGATGAGCTCCGTAACAACAGACACACGGACTTGTCAGATTCCTTGTTCGTATCAGGGTTCTTGCACAGTTAGGACGGCTTCAGAGAATCCTACCTTTCCTGGCGCTGTGTGTGCTGGATTTCATAGTCACGCTTGTTAGCTGCACGTCCTCGGTGGTCAGTTGTGAGAGCCCCCAATTCCTTCCTCCTTAGAAAGCTCATTCTCTGAGGTTTACTGGGGCTTGAACCTGGGGCTATAAGGAGTTTCGAGACACTCAAAAACGAGCTGGGGCTTGTTAATCAAGTGGTTTTTGTCCATGAGAAGAAAGAATTGGTTGTCAAGACGTCGGACCTATAGTGATTGGGTCCTCAAATACAGTTTGGTGATCAGGAGTTGTTGCTTTATTGCTATTCTAATTTCACTTACCTCCCCAGAAGTAACCTAGTTAAGAGCATTTCCAGGCCTTCCTATTCCTTCTTTTCCTAAACGGTGACTTCTGCCATGCTGCCCTAAAATCTTTTTATTGTGCATTATATGTGATTTATAAAATTGTGACCCAGTCCCATCTCGAGTTTTGCAGCCCAAACTGGGAAGAGTTCTGCATTGTACTTTATCCTTGTGTGTTTCTTTGGCTGGGGTCTCAGGAACCCTGCACGACTGTATTTACTTTCACTTCAGACTTACTGTTTGTGGGAGTGTTTTGGGGAAGGGGCCAAATCCTCACTCATTTTTTTATTTCTGGTGCTCGTTGAGACCACACAGACATGGAAAGGCCGCAGGAGGTGATGAGACAGAGATTAACCGTGCCGAATGAAACAAGGCTTCCTTTCGGGGAATTCAGCAGAAAAACCTTTCGTGAGATTGGAGAGGAAAATATGTCTGTTCTGCTTGGCAGGTCCTAGCAGAAGATGTGACTCAGACTGCCTCTGGGTGGGGCTGGCTGGCCCACAGATCCTGCCACCATGCCGCAGCATCGTCAGGACCCTCCACCAGCATAAGCTGGGCAGAGCTTCCTGGCCATCTGTCCAGCAGGTAAGGCATTTTTTGCCTCAAGTCCTCAAGGGTTTACACGTGCATTTTTACTATTGCATGCTCCCAAATTAGATGATGGCTTGGTTCACCAGCTTGTCAGAGTGGTCCGATCACCCAGACTGTGGTGACTGGCCTACTGGGCACTCAGCCAGGTAAAAAATGTCTTATGTTGTAAAGGTCCCAGCTGGAATGCACTCTGCCCCTTTTGCTTTCCAAGATTATTCGTTCGTGTACATTGCAAATATTTTCATGCACAGGGCAGGCAGTTAGCTTTCCTTTGGTGGGAGGACTTGGATCTAGGGCTCATCCATGAAGGAGGCAGAGATTGGCAGTTTACCCAGAACTTGGGTTTTAATTCAACCTAATTCATTTCTCTCTGTGGCAGGGGCTCCAGCAGTCCTTTTTGCACACTCTGGATTCTTACCGGATATTACAAAAGGCTGCCCCCTTTGACAGGAGGGCTACATCCTTGGCGTGGCACCCAACTCACCCCAGCACCGTGGCTGTGGGTTCCAAAGGGGGAGATATCATGCTCTGGAATTTTGGCATCAAGGACAAACCCACCTTCATCAAAGGGGTGAGCAGTTCCCCATGCCAGGTCGTGCTAAAGAAGTGTTTGTTGGCTGGGTGCAGTGGTTCGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTATGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTATAATCCCAGCTAC
TCCTAGGTGGACACCCAACAGGTTAGGCAAGTCTTAGTTAAAAGCAGTGAGAGGCCAAGAGGCTGGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAGAAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAATACAAAAAATTAGTCAGGCGTGGTGGTGTGTGCCTCTAGTCCCAGCTGCTCCGGAGACTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCGGAGATTGCAGTGAGCCGAGATTGTGCCACTGCACTCCGGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGCAGTGAGGAGGCTGGGCACAGTGGCTCACACCTGTAATCTCAGCACTTTGGCAGACCGAGGTGGATGGATGCCAGGAGTTCTAGACCAGCCTAGGCAACTTAGGGAGACTCTGTCTCTACAAAAAATGCAAAAATTAGCTGAGTGTTGCGGCGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCGATGTCCAGGAAGTCCAGCCTGCATTGAGCCCACATCCTGCCACTGCACTCCAGCCTGGGTGACAGAGAGAGGCCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAAAATAAAAACAGCCAACGACCAAACAAATAAAAGAGCAGTGAGAACCAGACACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGAGGATCACTTGAGCCCAGGAGGTCCAGACCAACGTGGGAAACATAGCAAGACCTTGTCTCTACAAAAATAAAAATAAAAAAATTAGGCTTGGGGATACAGGTCTGCAAGCCTACTTGGGAGGCTGAGGTGGGAGGATCAGTGAAACTTGAGGTCAAGGCTGCAGTGAGCTGTGATTACATCACTGCACTCCAGCCTGGGTAACGGAAGAGAGACACTGCCTCTAGGAAAAAAAAAAAAAAAAAAAAAAAAAGGCAAGGAGTTCCAATCATTCTCCCTTCACAGAGAAGCAGCTTGGATTCGATGGGACTGTAGTTTCTGGAATCCGACTGCAAAGCTGACCGCTGGTAGAGCCCAGCTTCTAACTTAGGAAAGGCACTAGCTCTCTACAAAGCCGCCACTCCCCAACTACACCCTGTAGGGACCAGCCAATCCCAAAGCCCGAGCGGGCGTCATCACCAATTGCAAGGCGGGAGACAGAGCCTTGGCTGGCACCGGGCCTCCTCCCCGGACCCGCAGAGGCCTGGCAGCGCCGCGTTTGAGGAGGGTTCGTGTCAGGAAGTCAAGGCTGGATGATCGCTTAAGCCCAGGAGTTAAAGACCGGCCCGGACAACAAAGCGAGACCCCGTCTCTCCAGAAAAAGAAAAAAAGAGAGAGAGAGAGAGAAATTAGCCGGGCGTGGTGGCGTACGCTTGTAGTCCCATCTACTTAGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTGGAGGCTGCACTGAGCTATGATCGCCCCACTGCCCTCCAGAGTGAGCGACAGAGCCAGACCCTGTTGCTAAAAAAAAAAAAAAAATCCATAAAGCCGGGGACCATCTTTGCTCCAGGGAGGTCAGCTGACCCGGGCTGGCACTGGCCCTGGCGCAGTTCCCGCCCCTCCCGGGAGCGCTGGCACCGCCCCTTGGCACCACCCCCTCCCCGCGCCCCCGCCTTCCAGGAAGGGGCGGGGTCTCCGAGACGGGTGGGGCCGGAGCTCCAAGCTGGTTTGAACAAGCCCTGGGCATGTTTGGCGGGAAGTTGGCTTAGCTCGGCTACCTGTGGCCCCGCAGTTTTGTAGTCCCCGCCTTGTTTCTCCCCAGAGGCCTCTCAATCCTCCCTCCATGATCTTCGCATAGAGCACAGTACCCCTTCACACGGAGGACGCGATGGCTCCCAAGAAACGCCCAGAAACCCAGAAGACCTCCGAGATTGTATTACGCCCCAGGAACAAGAGGAGCAGGAGTCCCCTGGGAGCTGGAGCCCGAGGCCAAGAAGCTCTGTGCGAAGGGCTCCGGTACTGCCTGTGCCTGCTGCTTGAATATTTCCGCCTTTTAGGGTGCTCGCGCAGGAGGCTGCAGCGGGGGATGGGTGCTCCGAGGCTCCCGAGGCCCGCGCAGGTCACGGGTGCCTCCGGCTGTGCATTCTACCTGCAGGTCCTTTGACACCAGAGTGTTTAGGTTTCAACACCTCTCCCGCTAGGTAACAGGAAGCAGATGAGCTCCGTAACAACAGACACACGGACTTGTCAGATTCCTTGTTCGTATCAGGGTTCTTGCACAGTTAGGACGGCTTCAGAGAATCCTACCTTTCCTGGCGCTGTGTGTGCTGGATTTCATAGTCACGCTTGTTAGCTGCACGTCCTCGGTGGTCAGTTGTGAGAGCCCCCAATTCCTTCCTCCTTAGAAAGCTCATTCTCTGAGGTTTACTGGGGCTTGAACCTGGGGCTATAAGGAGTTTCGAGACACTCAAAAACGAGCTGGGGCTTGTTAATCAAGTGGTTTTTGTCCATGAGAAGAAAGAATTGGTTGTCAAGACGTCGGACCTATAGTGATTGGGTCCTCAAATACAGTTTGGTGATCAGGAGTTGTTGCTTTATTGCTATTCTAATTTCACTTACCTCCCCAGAAGTAACCTAGTTAAGAGCATTTCCAGGCCTTCCTATTCCTTCTTTTCCTAAACGGTGACTTCTGCCATGCTGCCCTAAAATCTTTTTATTGTGCATTATATGTGATTTATAAAATTGTGACCCAGTCCCATCTCGAGTTTTGCAGCCCAAACTGGGAAGAGTTCTGCATTGTACTTTATCCTTGTGTGTTTCTTTGGCTGGGGTCTCAGGAACCCTGCACGACTGTATTTACTTTCACTTCAGACTTACTGTTTGTGGGAGTGTTTTGGGGAAGGGGCCAAATCCTCACTCATTTTTTTATTTCTGGTGCTCGTTGAGACCACACAGACATGGAAAGGCCGCAGGAGGTGATGAGACAGAGATTAACCGTGCCGAATGAAACAAGGCTTCCTTTCGGGGAATTCAGCAGAAAAACCTTTCGTGAGATTGGAGAGGAAAATATGTCTGTTCTGCTTGGCAGGTCCTAGCAGAAGATGTGACTCAGACTGCCTCTGGGTGGGGCTGGCTGGCCCACAGATCCTGCCACCATGCCGCAGCATCGTCAGGACCCTCCACCAGCATAAGCTGGGCAGAGCTTCCTGGCCATCTGTCCAGCAGGTAAGGCATTTTTTGCCTCAAGTCCTCAAGGGTTTACACGTGCATTTTTACTATTGCATGCTCCCAAATTAGATGATGGCTTGGTTCACCAGCTTGTCAGAGTGGTCCGATCACCCAGACTGTGGTGACTGGCCTACTGGGCACTCAGCCAGGTAAAAAATGTCTTATGTTGTAAAGGTCCCAGCTGGAATGCACTCTGCCCCTTTTGCTTTCCAAGATTATTCGTTCGTGTACATTGCAAATATTTTCATGCACAGGGCAGGCAGTTAGCTTTCCTTTGGTGGGAGGACTTGGATCTAGGGCTCATCCATGAAGGAGGCAGAGATTGGCAGTTTACCCAGAACTTGGGTTTTAATTCAACCTAATTCATTTCTCTCTGTGGCAGGGGCTCCAGCAGTCCTTTTTGCACACTCTGGATTCTTACCGGATATTACAAAAGGCTGCCCCCTTTGACAGGAGGGCTACATCCTTGGCGTGGCACCCAACTCACCCCAGCACCGTGGCTGTGGGTTCCAAAGGGGGAGATATCATGCTCTGGAATTTTGGCATCAAGGACAAACCCACCTTCATCAAAGGGGTGAGCAGTTCCCCATGCCAGGTCGTGCTAAAGAAGTGTTTGTTGGCTGGGTGCAGTGGTTCGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTATGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTATAATCCCAGCTA
pathogenic
175,153
Gene DDB2 (damage specific DNA binding protein 2) variant at chromosome position 47234779 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Xeroderma_pigmentosum,_group_E']
GACGGCGCAGCATGTGTGCCCAGGCCTGGTTCCTCACGGCCAGGCCCATCATCACTCACTGGCTTTTTCCTTCCTCGTGTTAGATTGGAGCTGGAGGGAGCATCACTGGGCTGAAGTTTAACCCTCTCAATACCAACCAGTTTTACGCCTCCTCAATGGAGGGAACAACTAGGCTGCAAGACTTTAAAGGCAACATTCTACGAGTTTTTGCCAGCTCAGACACCATCAAGTGAGTAGTTTAACTAGCAGGGGAAAGGGCTTCTAAGCTTAGGTGTAGTTCCGGCAAGAGCATCCAGATCCCATTTCCTTAACCCAACCTGGCCCAGGGAAGAAAGGAAAGATGTCAGCCACTTTCCGCCCTTCTTTCTCTTTCTCAAACTGCTCCTTGGCTGCCCTCACTTTGGTCCAGGTGGGTTACTGCTTTGGGAAGGTGTTCTGGAGCCTCAGCTCTTCTGTAAGTCATACCTGTATTAGACTGGACCTTGACCCTCACTAGATAAGCCAGCATGGCGTGGACCCAGAAAGCCACCTAGAGAATGGAGCAACAGCTCAGAACTTGAGACTGAATGCCCTGCACTCACTGTGGTGTAATGACCTGACCTGTTCCTGGGTGGAAGCTTATATGGATGGAATCTTTTCCATAAAGTGCTCTGGACTTCCCAAGAGAAAGTGGCTGGAGAAATTACAGAATGCGGCCGGGTGCAGTGGCTCATGCTTGAAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAACAATACAAAAAATTAGCTGGGCGTGGTGGTAGGCCCCTGTAATTCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATGGCGCCATTGCACTCCATCCTGGGCAACAAGAGCGAAAATCTATCTCAAAAAAAAAAAAAAAAAATTACAGAATACTCGTCACTTTGATTTCCAGCTAGAGCCGTGACTCTGACTGCTCCCTGAGGAATTAAGTGAGGGTGCTGGGGTGTAACTAGCATTGGATTGGATCCTGGGCTGTCCCGCAGGGATGAGGAGTGCATGCGCACGCAAATCAGCAGGCAATTGGATAGACAAGGCTCCAGGCTACTCTTCCGCAAGAAATCTTCCTGCTTGAAGATATTCATAGGGGATGGCAAAAGGCAGTGTAGCATGGATTTGAGAGTTTGAGAGAAAAACTGTGAGCTGAGCTCTTCTGGCTGAATAGCAGGATCCCTGAAGCACCCTCCTAGTCAGCCTCCCAGTCCAGTGGTTTGAGGGACCAGAAGAGCTCCTGGTTGTGTTTTTTCCCCCAGTGTTCAGAAGGGGGCAGAAGTGCTTTTCTAGCCAGCTCTGAGGAACAGGGCCAGGCAATCCCTCTTTGGCTTGTGTCTCCTTTGGCCTAAAGGGTGAAGAGTGAAAGGAGAGAGCAGTAAAGGAGGCTTGCTCAGAACCCGGGGTGTGGGGGGCAGGCGTGCCTCAGGGCTTGCTTTATGGTATAAGCTTTGTCTGCTTCAGGGACTTTTAGGAGCTGGGGATCCTGGGCCCAGCCATAACCAGACAGATTTCTGAGCCCCATTATCCCATCCCCTCTGTCTGGACGGTAGAGCAGTCTGAATGTTCCTCACTAGGAATCCACGGCAAGACAGTTATTCATTCATTCAACAAATATTTATTGAATGCCCGCTGTGGGTTAGTCACCGGAGCGGCAACAGTGAGTAAATAGGACTATCTCTGTCCCCAAGAATCTTACAACACAGTCTCTCCCTCCAGCATCTGGTTTTGTAGCCTGGATGTGTCTGCTAGTAGCCGAATGGTGGTCACAGGAGACAACGTGGGGAACGTGATCCTGCTGAACATGGACGGCAAAGAGGTGCGTTCTCCGAGGTCCTGCCTTTCCCTCCCTCACCCCCACCTCGGTTCTGTGTCCCCACCTGAACCGAGCTCTTCTCTGCAGCTTTGGAATCTCAGAATGCACAAAAAGAAAGTGACGCATGTGGCCCTGAACCCATGCTGTGATTGGTTCCTGGCCACAGCCTCCGTAGATCAAACAGTGAAAATTTGGGACCTGCGCCAGGTTAGAGGGAAAGCCAGCTTCCTCTACTCGCTGCCGCACAGGCATCCTGTCAACGCAGGTGTGATATCCCAGACCTCATCTCTCCTGCAGACCCTGCCTGTCTGACCACTGCTGGGGTTTTCCCTCAGTGTGGAAGCCACTACGTCAAACCTTTACCCCTGATAGCGTCTGCCAAGCTGATGTCTGGGAACCTTTGTGGCTGTGGCTGTCCCCATCAGCTGCTGAGTTTCCAGAATTTTTTTGTTGTTGTTCACAGCCCAGATTCACCTCTTCCTTTCCGCTCCTGTCTAGAGAGGAGTGGGAGGGAGAGTACCCCTGCAGGAGAAGGCCTGCAAGGCCAGGACCACAGAGGGCTTGTGGTTCCTTCAGCTCAGGGGCTTTTCACTTTGCCAGCTTGTTTCAGTCCCGATGGAGCCCGGCTCCTGACCACGGACCAGAAGAGCGAGATCCGAGTTTACTCTGCTTCCCAGTGGGACTGCCCCCTGGGCCTGATCCCGCACCCTCACCGTCACTTCCAGCACCTCACACCCATCAAGGTGAGTGGCGGTGGGAAGGAGCTCGCAGAAGGAGGCTGTGATCATGAGGCCGGAGCAGGTCTGCCCACAGTGGGGAAGGGCTGATGTGGTAAGCCTGCCACCCCAGATCGCTCCTGGCCCGAGCACAGAGCATCTCTTACCCATTGGCTCTCTCTCTTCCTTTTATCCCACTTCTGCCATCCCATATGGTTGAGTTTTCTGTCTCGCTGATAAGATATTTTTCTGAGTTTTTTCAGCCCAGCTCTGATCTCACTGTGAGAATTTTCTAAGATCCTGACCCTCTGTTCTGTCTTCTCAGCTTCAGTTACCTGTGTACAGTTGACCCACAAACCTTCATTTTTTATTTTTTTATTATTTTTTTTAAGGCAGGGTCTCGCTCTGTCACCCAGGTGGGAGTACAGTGGGGCAAGCATGGTTCATTACAGCCTTGATCTCCCAGGCTCAAGCGATCCTCCTGCCTCACTTTTTTTTTTTTTGTAGAGACAGGGTATTCTTGTGTTACCCAGGCTGATCCTTTTTTTTTTTTTTTTTTTTTTTCTTGAAACGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAAACATAGCTCACTGCAGCCTCAACCTCCTGGGTTCAAGCAATCCTTCCGCCTTAGCCTCGGAAGTAGATTGGACTACAGGTATGCGCCACCATACCCAGCTAATTTTTTTATTTTTTATAGAGATGGGGTTTTGCCATGTTGCCCAAGCTGGTCTTGAACTCCTAGGTTGAAGCCATCCCCCAACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGCGCCTGGCAACTTTGCCTTCTTAGTTTGTCTTGCAGGTTTCAGTGCTTCTAATAATAAAAATAAGTCTTTTATTTTCCCACCTTTTCTCAGGCTCTTGTTAATAGCTTCTCTATCATTAGTCCCCAACACTAATAGCTTTCAAGTCCTTTGATGCCTTTTTGCCTAAGCCCCCATGCAGACTGAGCTCTGCTAGTTCTGCATTCTTTTCCAAAACTACAGATCCTCTTCAGATCTTCAGGTTTTATGCCTATACTTCTCTGGTCAGTTCAGAATAGTGGTGGGGAGCGCCAGTTTCCAGCAGCCAGACCCCCCGGGTTAGAATCCTTGGGCAAATTACTTATATTTTGGATCTGTTTCCTCATCTGCAAAAAGGGAATACTAGTCTCTAACTGATAGGGTTGTTGTGAAGATGAGTCAGTATACTTAAAGCACTTGGCCCCATGCCCAGCACCTGGTAAGTACTGGTAAGTATTCAATAAATGATGATTGAATATTGAGTGGCCCCCACGTACCTCAATCACATCCAAGCTCTTAATAAATAATGTCAAGAATCCTTCCCCAGTTGGTGTTCCTGTTAATCCATCAGTGTTCCCGATAATCCA
GACGGCGCAGCATGTGTGCCCAGGCCTGGTTCCTCACGGCCAGGCCCATCATCACTCACTGGCTTTTTCCTTCCTCGTGTTAGATTGGAGCTGGAGGGAGCATCACTGGGCTGAAGTTTAACCCTCTCAATACCAACCAGTTTTACGCCTCCTCAATGGAGGGAACAACTAGGCTGCAAGACTTTAAAGGCAACATTCTACGAGTTTTTGCCAGCTCAGACACCATCAAGTGAGTAGTTTAACTAGCAGGGGAAAGGGCTTCTAAGCTTAGGTGTAGTTCCGGCAAGAGCATCCAGATCCCATTTCCTTAACCCAACCTGGCCCAGGGAAGAAAGGAAAGATGTCAGCCACTTTCCGCCCTTCTTTCTCTTTCTCAAACTGCTCCTTGGCTGCCCTCACTTTGGTCCAGGTGGGTTACTGCTTTGGGAAGGTGTTCTGGAGCCTCAGCTCTTCTGTAAGTCATACCTGTATTAGACTGGACCTTGACCCTCACTAGATAAGCCAGCATGGCGTGGACCCAGAAAGCCACCTAGAGAATGGAGCAACAGCTCAGAACTTGAGACTGAATGCCCTGCACTCACTGTGGTGTAATGACCTGACCTGTTCCTGGGTGGAAGCTTATATGGATGGAATCTTTTCCATAAAGTGCTCTGGACTTCCCAAGAGAAAGTGGCTGGAGAAATTACAGAATGCGGCCGGGTGCAGTGGCTCATGCTTGAAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAACAATACAAAAAATTAGCTGGGCGTGGTGGTAGGCCCCTGTAATTCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATGGCGCCATTGCACTCCATCCTGGGCAACAAGAGCGAAAATCTATCTCAAAAAAAAAAAAAAAAAATTACAGAATACTCGTCACTTTGATTTCCAGCTAGAGCCGTGACTCTGACTGCTCCCTGAGGAATTAAGTGAGGGTGCTGGGGTGTAACTAGCATTGGATTGGATCCTGGGCTGTCCCGCAGGGATGAGGAGTGCATGCGCACGCAAATCAGCAGGCAATTGGATAGACAAGGCTCCAGGCTACTCTTCCGCAAGAAATCTTCCTGCTTGAAGATATTCATAGGGGATGGCAAAAGGCAGTGTAGCATGGATTTGAGAGTTTGAGAGAAAAACTGTGAGCTGAGCTCTTCTGGCTGAATAGCAGGATCCCTGAAGCACCCTCCTAGTCAGCCTCCCAGTCCAGTGGTTTGAGGGACCAGAAGAGCTCCTGGTTGTGTTTTTTCCCCCAGTGTTCAGAAGGGGGCAGAAGTGCTTTTCTAGCCAGCTCTGAGGAACAGGGCCAGGCAATCCCTCTTTGGCTTGTGTCTCCTTTGGCCTAAAGGGTGAAGAGTGAAAGGAGAGAGCAGTAAAGGAGGCTTGCTCAGAACCCGGGGTGTGGGGGGCAGGCGTGCCTCAGGGCTTGCTTTATGGTATAAGCTTTGTCTGCTTCAGGGACTTTTAGGAGCTGGGGATCCTGGGCCCAGCCATAACCAGACAGATTTCTGAGCCCCATTATCCCATCCCCTCTGTCTGGACGGTAGAGCAGTCTGAATGTTCCTCACTAGGAATCCACGGCAAGACAGTTATTCATTCATTCAACAAATATTTATTGAATGCCCGCTGTGGGTTAGTCACCGGAGCGGCAACAGTGAGTAAATAGGACTATCTCTGTCCCCAAGAATCTTACAACACAGTCTCTCCCTCCAGCATCTGGTTTTGTAGCCTGGATGTGTCTGCTAGTAGCCGAATGGTGGTCACAGGAGACAACGTGGGGAACGTGATCCTGCTGAACATGGACGGCAAAGAGGTGCGTTCTCCGAGGTCCTGCCTTTCCCTCCCTCACCCCCACCTCGGTTCTGTGTCCCCACCTGAACCGAGCTCTTCTCTGCAGCTTTGGAATCTCAGAATGCACAAAAAGTGACGCATGTGGCCCTGAACCCATGCTGTGATTGGTTCCTGGCCACAGCCTCCGTAGATCAAACAGTGAAAATTTGGGACCTGCGCCAGGTTAGAGGGAAAGCCAGCTTCCTCTACTCGCTGCCGCACAGGCATCCTGTCAACGCAGGTGTGATATCCCAGACCTCATCTCTCCTGCAGACCCTGCCTGTCTGACCACTGCTGGGGTTTTCCCTCAGTGTGGAAGCCACTACGTCAAACCTTTACCCCTGATAGCGTCTGCCAAGCTGATGTCTGGGAACCTTTGTGGCTGTGGCTGTCCCCATCAGCTGCTGAGTTTCCAGAATTTTTTTGTTGTTGTTCACAGCCCAGATTCACCTCTTCCTTTCCGCTCCTGTCTAGAGAGGAGTGGGAGGGAGAGTACCCCTGCAGGAGAAGGCCTGCAAGGCCAGGACCACAGAGGGCTTGTGGTTCCTTCAGCTCAGGGGCTTTTCACTTTGCCAGCTTGTTTCAGTCCCGATGGAGCCCGGCTCCTGACCACGGACCAGAAGAGCGAGATCCGAGTTTACTCTGCTTCCCAGTGGGACTGCCCCCTGGGCCTGATCCCGCACCCTCACCGTCACTTCCAGCACCTCACACCCATCAAGGTGAGTGGCGGTGGGAAGGAGCTCGCAGAAGGAGGCTGTGATCATGAGGCCGGAGCAGGTCTGCCCACAGTGGGGAAGGGCTGATGTGGTAAGCCTGCCACCCCAGATCGCTCCTGGCCCGAGCACAGAGCATCTCTTACCCATTGGCTCTCTCTCTTCCTTTTATCCCACTTCTGCCATCCCATATGGTTGAGTTTTCTGTCTCGCTGATAAGATATTTTTCTGAGTTTTTTCAGCCCAGCTCTGATCTCACTGTGAGAATTTTCTAAGATCCTGACCCTCTGTTCTGTCTTCTCAGCTTCAGTTACCTGTGTACAGTTGACCCACAAACCTTCATTTTTTATTTTTTTATTATTTTTTTTAAGGCAGGGTCTCGCTCTGTCACCCAGGTGGGAGTACAGTGGGGCAAGCATGGTTCATTACAGCCTTGATCTCCCAGGCTCAAGCGATCCTCCTGCCTCACTTTTTTTTTTTTTGTAGAGACAGGGTATTCTTGTGTTACCCAGGCTGATCCTTTTTTTTTTTTTTTTTTTTTTTCTTGAAACGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAAACATAGCTCACTGCAGCCTCAACCTCCTGGGTTCAAGCAATCCTTCCGCCTTAGCCTCGGAAGTAGATTGGACTACAGGTATGCGCCACCATACCCAGCTAATTTTTTTATTTTTTATAGAGATGGGGTTTTGCCATGTTGCCCAAGCTGGTCTTGAACTCCTAGGTTGAAGCCATCCCCCAACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGCGCCTGGCAACTTTGCCTTCTTAGTTTGTCTTGCAGGTTTCAGTGCTTCTAATAATAAAAATAAGTCTTTTATTTTCCCACCTTTTCTCAGGCTCTTGTTAATAGCTTCTCTATCATTAGTCCCCAACACTAATAGCTTTCAAGTCCTTTGATGCCTTTTTGCCTAAGCCCCCATGCAGACTGAGCTCTGCTAGTTCTGCATTCTTTTCCAAAACTACAGATCCTCTTCAGATCTTCAGGTTTTATGCCTATACTTCTCTGGTCAGTTCAGAATAGTGGTGGGGAGCGCCAGTTTCCAGCAGCCAGACCCCCCGGGTTAGAATCCTTGGGCAAATTACTTATATTTTGGATCTGTTTCCTCATCTGCAAAAAGGGAATACTAGTCTCTAACTGATAGGGTTGTTGTGAAGATGAGTCAGTATACTTAAAGCACTTGGCCCCATGCCCAGCACCTGGTAAGTACTGGTAAGTATTCAATAAATGATGATTGAATATTGAGTGGCCCCCACGTACCTCAATCACATCCAAGCTCTTAATAAATAATGTCAAGAATCCTTCCCCAGTTGGTGTTCCTGTTAATCCATCAGTGTTCCCGATAATCCANNNN
pathogenic
175,158
Classify the chromosome 11 variant at position 47285126 affecting gene MADD (MAP kinase activating death domain) as benign or pathogenic. If pathogenic, which disease(s) is associated?
pathogenic
TTAATTTTATTTTATTTTATTTATTTATTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGACGCAATCTCGGCTCACTGCCAGCTCCGCCTCCCGGCTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGAGAATACAGGCGTGAGCCACCGCGCCCGGCCTTATTTATTTATTTTTGTATGTATGTGACAGAGTCTTGCTGCTCTGTCACGCGGTCTGGAGTGCAGTGGTGCCGTCTCAGCTCACTGCAAGTTCTCCCTCCCAGGTTCAAGTGATTCTCCTGCCTCCGCCTCCCAAGTAGCTGGGACTACAGGTGCTGCCACCTTGCCTGGCTAATTTTTGTATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTAGAGCGCAGTGGCGTGATCTGGGCTCACTGCAACCTCCGCCTCTCGGGTTCAAGCGATTCTCTTGCCCCAGCCACCCGAGTAGCTGGGATTACAGGCACATGCCATCACGCCCAGCTAATTTTTTGTGTTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTTTCAAACTCATGCCTTCAAGCAATTCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGCGAGCCACTGCACCCGGCTACTTTTTGTATTTTTAGTAGAGATGGTGTTTCACCATGTTTGCCAGGCTGGTCTCAAACTCCAGACCTCAGGTGATCCACCCGCCTTAGCGTCCCAAAGTGCTTGGATTACAGGCATGGGCCACTGTCCCGGCCCCCATATCAGTCTTTATGCTTTGGTTGACTGTTTTTCTTGGCTTCTTTATTTGATTTGTTCCCTGGCCTTGAGTTCGGAGTGCTCCCCCTTTTATTTTTCCTGGTGCTGATTGTAGGTGTTCTCCCTGCCCCTTTCTGTTTTGTTTGTTTTTTATGCACTTCACTCTGCAGTGGCAGTGATAGTATGGATTATGACGATTCAAGCTCTTCTTACTCCTCCCTTGGTGACTTTGTCAGTGAAATGATGAAATGTGACATTAATGGTGATACTCCCAGTAAGTGTGCTTGGGGAGATTGGCCAGCCCTGGGCAGGGGTTGGGGGCCCAAGGATGGAGTGGTCTGTACCTGCCTCCCTTGGATTTTGGCAGATGTGGACCCTCTGACACATGCAGCACTGGGGGATGCCAGCGAGGTGGAGATTGACGAGCTGCAGAATCAGAAGGAAGCAGAAGAGCCTGGCCCAGACAGTGAGAACTCTCAGGAAAACCCCCCACTGCGCTCCAGCTCTAGCACCACAGCCAGCAGCAGCCCCAGCACTGTCATCCACGGAGCCAACTCTGTAAGTGAGGAGCGGTGGATGAGTGAGAACCATGGCCTGGGATGTGGGCCTCATCTATTAGGAAAGCCAGGCTGTAGCTATTCATTTGCTGCTTCTCACACAATTTTCTCATCTTCCTCTTCATGGGCCCTAGAGCTTAGAGCCTAAGAGACCTACTTTTGACCCCAAAAGGAGGTCATCAGGCTTTGTTCAGGGTACAGCTATGATCCCCCTTATATAGTTTGTGGGGACAGAGAACGGGTGCTACAGAGATCATTTCCCACACATTCCTTAGGCTAGAAATCTGACAGGCCTGGTCCAGCCCTGCCAAACTGGGATTACAGGAAGGTACCATTGGGCACCAGGTAACCACTTTTAATTTCATGCGGCCTTTAGGAACCTGCTGACTCTACGGAGATGGATGATAAGGCAGCAGTAGGCGTCTCCAAGCCCCTCCCTTCCGTGCCTCCCAGCATTGGCAAATCGAACGTGGACAGACGTCAGGCAGAAATTGGAGAGGGGTCAGTGCGCCGGCGAATCTATGACAATCCATACTTCGAGCCCCAATATGGCTTTCCCCCTGAGGAAGATGAGGATGAGCAGGGGGAAAGTTACACTCCCCGATTCAGCCAACATGTCAGTGGCAATCGGTGAGAGCCTGGGCATCCCTTCTAGATGGGTGACTGAAGGACCTCACCTCAGTGGACCCTGGGCAAGGGTTAATCAGAAAGTCTGAGAAGTCTGAATGCTCTCGTGGTCCTGCCATCCCCAGAGGATGGTGTTCTGATCCAGGGGCTTAGGAATTACGGGAAGGGAGTGGCAACTGTAGTATAGCATAATTATGGCCCATACTCCCAAGATCAGGTACCCCTGCCTGGGGATCATAGGTGCCTCTGTGCATTCAAGGGCTCAAAAGCTGCTGCGGCCCAACAGCTTGAGACTGGCAAGTGACTCAGATGCAGAGTCAGACTCTCGGGCAAGCTCTCCCAACTCCACCGTCTCCAACACCAGCACCGAGGGCTTCGGGGGCATCATGTCTTTTGCCAGTAAGTGCCTTCAGCTGTCTCTCTCACTCCTGTGTTCCATTTTCTCTACAGCAGAGCCTGACTATGGCAAATGTTGCTTAGAACTTCACATGTAGGGCTAGGTTGGCATTAGCAAGCCCTAATCCAGTCATTTGGGTGATACTGAATAAGGCGTTTTCAAGTGAGGTCAGTAAAGGACAGGGACAGATTAGTCATTATGCCTGGACATTTCAGTCTATTTCAGGTAAGACAGCTGGATGGGTAACTGGAAAACAGGCAGTAAATTCAAAATCACACACTTGTACTTATATTTTGTGGAAATACTCTGGTCAAATTTGATTTGAGTCCATATCTGGTATCTTCTTTGCCTCATAACGGACTCTTCCATGAATGTGCTTTGAAATCGATATGAGATTGAATTTTGTGCTTAGATAGTATTCCCAGCAGTGCAGGGTCGTATCAGCTAAAGATTGAAGACAGACCATGGACTAGAGAGAGCGAACGTAGAGGATCCCTGTGATTGTGAGTTTCTTCAGCAGCCAGGGAGGGACAGTGCCAGCTTCAGACCAGAAGCCTGTTAACTGCCAGCTTTCATGCTGTGTAGCAGTGGATGAGAGACTTGGATATTATCATGTGAGGTGGACAGAGAAAGCTGTTACTGGGTTTTGGCTGATCCTGGCAGTGGCTCCATTGTTTGCCTGGAGTTAGACTTGATCCTTTCTAAGACAGATCAGAGATGATCTGATCCACCAAACTGGGATTGTGTTTGAAAAGGAGGGAGGTGCAGATGCTGATAGTCATTAGTCTACTGCTTTGATTACTTACTCTGCCAAGTCATCGCTCTTGCACCCTCCCCTTGATAGGCAGCCTCTATCGGAACCACAGTACCAGCTTCAGTCTTTCAAACCTCACACTGCCCACCAAAGGTGCCCGAGAGAAGGCCACGCCCTTCCCCAGTCTGAAAGGTAACTACAGCCTTCCTTTTGCCAAGCCAGGTTTCTCCGGGAGATGTTTCGGGCTGTGGGTTCATGTCAGGAGCCCTGCATCTGCTGAATCCTTTGACCTGGTTGTCGTCCCTCATGTTGCTCCTCATGGCTTTCACCGCACATCCTGGGCTCTGATGGTTGTCAGATGGAAACCATCTTTGTAGCTAGAGACGGCCCTGTTATGTCATTTAGGACAATGGCAACTGTGGGATTACTGCTGCTTCGCGGGAGGACCCTGTCAGGGTATATGATTAACATAGGGATCATCAGCTGCCCCCAGTCGTCTGCTGGGTTGCCACTGCATGAACTTAGGGCAAATTCCGTGCCAAGGAGCTGGCCCACCAGAGAATGGTTATGGAGAGCCTGGCAGCGTTCATAGAGCACAGCCTCTCACCTCTCACGCACTCATAAGCCTGTCAACCCAGGGCTTAATGAGTGCGCCAGGTAGTATTGGTTAGTTTCTAGGGGCAGTTAAAACCTTATGTGAAAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGACTGACCAACATGGCGAAACGCCGTCTCTGCTAAAAATACAAAA
TTAATTTTATTTTATTTTATTTATTTATTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGACGCAATCTCGGCTCACTGCCAGCTCCGCCTCCCGGCTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGAGAATACAGGCGTGAGCCACCGCGCCCGGCCTTATTTATTTATTTTTGTATGTATGTGACAGAGTCTTGCTGCTCTGTCACGCGGTCTGGAGTGCAGTGGTGCCGTCTCAGCTCACTGCAAGTTCTCCCTCCCAGGTTCAAGTGATTCTCCTGCCTCCGCCTCCCAAGTAGCTGGGACTACAGGTGCTGCCACCTTGCCTGGCTAATTTTTGTATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTAGAGCGCAGTGGCGTGATCTGGGCTCACTGCAACCTCCGCCTCTCGGGTTCAAGCGATTCTCTTGCCCCAGCCACCCGAGTAGCTGGGATTACAGGCACATGCCATCACGCCCAGCTAATTTTTTGTGTTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTTTCAAACTCATGCCTTCAAGCAATTCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGCGAGCCACTGCACCCGGCTACTTTTTGTATTTTTAGTAGAGATGGTGTTTCACCATGTTTGCCAGGCTGGTCTCAAACTCCAGACCTCAGGTGATCCACCCGCCTTAGCGTCCCAAAGTGCTTGGATTACAGGCATGGGCCACTGTCCCGGCCCCCATATCAGTCTTTATGCTTTGGTTGACTGTTTTTCTTGGCTTCTTTATTTGATTTGTTCCCTGGCCTTGAGTTCGGAGTGCTCCCCCTTTTATTTTTCCTGGTGCTGATTGTAGGTGTTCTCCCTGCCCCTTTCTGTTTTGTTTGTTTTTTATGCACTTCACTCTGCAGTGGCAGTGATAGTATGGATTATGACGATTCAAGCTCTTCTTACTCCTCCCTTGGTGACTTTGTCAGTGAAATGATGAAATGTGACATTAATGGTGATACTCCCAGTAAGTGTGCTTGGGGAGATTGGCCAGCCCTGGGCAGGGGTTGGGGGCCCAAGGATGGAGTGGTCTGTACCTGCCTCCCTTGGATTTTGGCAGATGTGGACCCTCTGACACATGCAGCACTGGGGGATGCCAGCGAGGTGGAGATTGACGAGCTGCAGAATCAGAAGGAAGCAGAAGAGCCTGGCCCAGACAGTGAGAACTCTCAGGAAAACCCCCCACTGCGCTCCAGCTCTAGCACCACAGCCAGCAGCAGCCCCAGCACTGTCATCCACGGAGCCAACTCTGTAAGTGAGGAGCGGTGGATGAGTGAGAACCATGGCCTGGGATGTGGGCCTCATCTATTAGGAAAGCCAGGCTGTAGCTATTCATTTGCTGCTTCTCACACAATTTTCTCATCTTCCTCTTCATGGGCCCTAGAGCTTAGAGCCTAAGAGACCTACTTTTGACCCCAAAAGGAGGTCATCAGGCTTTGTTCAGGGTACAGCTATGATCCCCCTTATATAGTTTGTGGGGACAGAGAACGGGTGCTACAGAGATCATTTCCCACACATTCCTTAGGCTAGAAATCTGACAGGCCTGGTCCAGCCCTGCCAAACTGGGATTACAGGAAGGTACCATTGGGCACCAGGTAACCACTTTTAATTTCATGCGGCCTTTAGGAACCTGCTGACTCTACGGAGATGGATGATAAGGCAGCAGTAGGCGTCTCCAAGCCCCTCCCTTCCGTGCCTCCCAGCATTGGCAAATCGAACGTGGACAGACGTCAGGCAGAAATTGGAGAGGGGTCAGTGCGCCGGCGAATCTATGACAATCCATACTTCGAGCCCCAATATGGCTTTCCCCCTGGAGGAAGATGAGGATGAGCAGGGGGAAAGTTACACTCCCCGATTCAGCCAACATGTCAGTGGCAATCGGTGAGAGCCTGGGCATCCCTTCTAGATGGGTGACTGAAGGACCTCACCTCAGTGGACCCTGGGCAAGGGTTAATCAGAAAGTCTGAGAAGTCTGAATGCTCTCGTGGTCCTGCCATCCCCAGAGGATGGTGTTCTGATCCAGGGGCTTAGGAATTACGGGAAGGGAGTGGCAACTGTAGTATAGCATAATTATGGCCCATACTCCCAAGATCAGGTACCCCTGCCTGGGGATCATAGGTGCCTCTGTGCATTCAAGGGCTCAAAAGCTGCTGCGGCCCAACAGCTTGAGACTGGCAAGTGACTCAGATGCAGAGTCAGACTCTCGGGCAAGCTCTCCCAACTCCACCGTCTCCAACACCAGCACCGAGGGCTTCGGGGGCATCATGTCTTTTGCCAGTAAGTGCCTTCAGCTGTCTCTCTCACTCCTGTGTTCCATTTTCTCTACAGCAGAGCCTGACTATGGCAAATGTTGCTTAGAACTTCACATGTAGGGCTAGGTTGGCATTAGCAAGCCCTAATCCAGTCATTTGGGTGATACTGAATAAGGCGTTTTCAAGTGAGGTCAGTAAAGGACAGGGACAGATTAGTCATTATGCCTGGACATTTCAGTCTATTTCAGGTAAGACAGCTGGATGGGTAACTGGAAAACAGGCAGTAAATTCAAAATCACACACTTGTACTTATATTTTGTGGAAATACTCTGGTCAAATTTGATTTGAGTCCATATCTGGTATCTTCTTTGCCTCATAACGGACTCTTCCATGAATGTGCTTTGAAATCGATATGAGATTGAATTTTGTGCTTAGATAGTATTCCCAGCAGTGCAGGGTCGTATCAGCTAAAGATTGAAGACAGACCATGGACTAGAGAGAGCGAACGTAGAGGATCCCTGTGATTGTGAGTTTCTTCAGCAGCCAGGGAGGGACAGTGCCAGCTTCAGACCAGAAGCCTGTTAACTGCCAGCTTTCATGCTGTGTAGCAGTGGATGAGAGACTTGGATATTATCATGTGAGGTGGACAGAGAAAGCTGTTACTGGGTTTTGGCTGATCCTGGCAGTGGCTCCATTGTTTGCCTGGAGTTAGACTTGATCCTTTCTAAGACAGATCAGAGATGATCTGATCCACCAAACTGGGATTGTGTTTGAAAAGGAGGGAGGTGCAGATGCTGATAGTCATTAGTCTACTGCTTTGATTACTTACTCTGCCAAGTCATCGCTCTTGCACCCTCCCCTTGATAGGCAGCCTCTATCGGAACCACAGTACCAGCTTCAGTCTTTCAAACCTCACACTGCCCACCAAAGGTGCCCGAGAGAAGGCCACGCCCTTCCCCAGTCTGAAAGGTAACTACAGCCTTCCTTTTGCCAAGCCAGGTTTCTCCGGGAGATGTTTCGGGCTGTGGGTTCATGTCAGGAGCCCTGCATCTGCTGAATCCTTTGACCTGGTTGTCGTCCCTCATGTTGCTCCTCATGGCTTTCACCGCACATCCTGGGCTCTGATGGTTGTCAGATGGAAACCATCTTTGTAGCTAGAGACGGCCCTGTTATGTCATTTAGGACAATGGCAACTGTGGGATTACTGCTGCTTCGCGGGAGGACCCTGTCAGGGTATATGATTAACATAGGGATCATCAGCTGCCCCCAGTCGTCTGCTGGGTTGCCACTGCATGAACTTAGGGCAAATTCCGTGCCAAGGAGCTGGCCCACCAGAGAATGGTTATGGAGAGCCTGGCAGCGTTCATAGAGCACAGCCTCTCACCTCTCACGCACTCATAAGCCTGTCAACCCAGGGCTTAATGAGTGCGCCAGGTAGTATTGGTTAGTTTCTAGGGGCAGTTAAAACCTTATGTGAAAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGACTGACCAACATGGCGAAACGCCGTCTCTGCTAAAAATACAAA
pathogenic
175,184
Considering the genetic mutation at chromosome 11, position 47331512, impacting MYBPC3 (myosin binding protein C3): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
benign
TTGTCCCTGGCGTTATAACTGTCCACTGCAAGAGTCTGGCTCTCCCTTCTCTGTGACCCGGCATGACTGGGCGCCTGGAGCAGTTTCACTCTGTGAGGAGTGAGGGAACCCTGGGGCTCACCCTCTCAGAGGAAGGGCACAGAGAGGAAGGGAAGAATTGGGGGGCAGCCGGAGTGAGTGGCAGCCTCCCTGCTTCCTTCTGCATTCCCAAGCCGGCAGCTACTGCCCAGGGCCCGCAGTGTTGGCTGCTGCCTGCCACAGCCTCTGTGACTGCAGTGGAGCGGCGAATTCCCTGTGGCCTGCCATGCCTTCGGCATCAGAGGATGGAGTGGTCGAGGCTAGTGGAGTCCCAGGGACCGCTGGCTGCTCTGCCTGAGCATCAGGGAGGGGGCAGGAAAGACCAAGCTGGGTTTGCACATCTGTCTGCAGGCTGTCTCTCCAGGCACGGGGTGTCAGGAGGGAGAGACAGCCTGGGTATGGGCAAGAAATGACTGTAAATATTTCAGCCCCACATTATTTATAGAAAATGTACAGTTGTGTGAATGTGAAATAAATGTCCTCAACTCCCTTCAGGCTCCCTGGCTGCCTTGTGTTAAATGACACCTCCTCTTGGCTCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAA
TTGTCCCTGGCGTTATAACTGTCCACTGCAAGAGTCTGGCTCTCCCTTCTCTGTGACCCGGCATGACTGGGCGCCTGGAGCAGTTTCACTCTGTGAGGAGTGAGGGAACCCTGGGGCTCACCCTCTCAGAGGAAGGGCACAGAGAGGAAGGGAAGAATTGGGGGGCAGCCGGAGTGAGTGGCAGCCTCCCTGCTTCCTTCTGCATTCCCAAGCCGGCAGCTACTGCCCAGGGCCCGCAGTGTTGGCTGCTGCCTGCCACAGCCTCTGTGACTGCAGTGGAGCGGCGAATTCCCTGTGGCCTGCCATGCCTTCGGCATCAGAGGATGGAGTGGTCGAGGCTAGTGGAGTCCCAGGGACCGCTGGCTGCTCTGCCTGAGCATCAGGGAGGGGGCAGGAAAGACCAAGCTGGGTTTGCACATCTGTCTGCAGGCTGTCTCTCCAGGCACGGGGTGTCAGGAGGGAGAGACAGCCTGGGTATGGGCAAGAAATGACTGTAAATATTTCAGCCCCACATTATTTATAGAAAATGTACAGTTGTGTGAATGTGAAATAAATGTCCTCAACTCCCTTCAGGCTCCCTGGCTGCCTTGTGTTAAATGACACCTCCTCTTGGCTCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAAN
benign
175,189
The chromosome 11, position 47332086 genetic variant in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, indicate disease(s).
pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4']
CTCCCTGGCTGCCTTGTGTTAAATGACACCTCCTCTTGGCTCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGC
CTCCCTGGCTGCCTTGTGTTAAATGACACCTCCTCTTGGCTCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCN
pathogenic
175,200
Considering the genetic mutation at chromosome 11, position 47332094, impacting MYBPC3 (myosin binding protein C3): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Cardiovascular_phenotype']
CTGCCTTGTGTTAAATGACACCTCCTCTTGGCTCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCC
CTGCCTTGTGTTAAATGACACCTCCTCTTGGCTCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCCAGGCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCNNNNNNN
pathogenic
175,201
Evaluate the clinical significance of the mutation at chromosome 11, position 47332109 in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction']
TGACACCTCCTCTTGGCTCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGC
TGACACCTCCTCTTGGCTCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCN
pathogenic
175,204
Mutation at chromosome 11, position 47332116, within MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'likely other unspecified diseases']
TCCTCTTGGCTCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACA
TCCTCTTGGCTCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACANNN
pathogenic
175,208
Is the variant located on chromosome 11 at position 47332119, gene MYBPC3 (myosin binding protein C3), benign or pathogenic? If pathogenic, specify the disease(s) linked.
pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4']
TCTTGGCTCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCA
TCTTGGCTCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAN
pathogenic
175,209
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 47332126, gene MYBPC3 (myosin binding protein C3). What disease(s) is it linked to if pathogenic?
pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4']
TCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAG
TCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCA
pathogenic
175,211
Is the genetic change at chromosome 11, position 47332126, within gene MYBPC3 (myosin binding protein C3) benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_1', 'Left_ventricular_noncompaction_10', 'Primary_dilated_cardiomyopathy', 'Primary_familial_hypertrophic_cardiomyopathy']
TCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAG
TCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTG
pathogenic
175,212
Regarding the variant found on chromosome 11 at position 47332132 in gene MYBPC3 (myosin binding protein C3): is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy']
CTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCC
CTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCNN
pathogenic
175,213
Benign or pathogenic: chromosome 11, position 47332150, gene MYBPC3 (myosin binding protein C3) variant? Disease(s) if pathogenic?
pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4']
GGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCC
GGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCN
pathogenic
175,215
Considering the variant on chromosome 11, location 47332159, 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']
AAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTC
AAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCN
pathogenic
175,217
Regarding the variant at chromosome 11 and position 47332171, affecting gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4']
GGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAA
GGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAANN
pathogenic
175,219
The mutation in gene MYBPC3 (myosin binding protein C3) at chromosome 11, position 47332172—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy_1']
GCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAG
GCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGNN
pathogenic
175,220
Mutation at chromosome 11, position 47332182, within MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy']
AGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCA
AGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCANN
pathogenic
175,224
Does the chromosome 11 mutation at position 47332186 within gene MYBPC3 (myosin binding protein C3) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy']
AGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGA
AGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCAGTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGA
pathogenic
175,225
A mutation at chromosome position 47332196 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']
GTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAA
GTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAAN
pathogenic
175,229
Benign or pathogenic: chromosome 11, position 47332223, gene MYBPC3 (myosin binding protein C3) variant? Disease(s) if pathogenic?
pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'MYBPC3-related_disorder']
GGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAG
GGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTGCCTTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGN
pathogenic
175,233
Located at chromosome 11 position 47332545, the variant affecting gene MYBPC3 (myosin binding protein C3)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy']
TTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCA
TTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
pathogenic
175,242
Is chromosome 11, position 47332563, gene MYBPC3 (myosin binding protein C3) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy']
GGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGG
GGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTCCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGN
pathogenic
175,244
Considering the variant on chromosome 11, location 47332568, 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', 'Hypertrophic_cardiomyopathy_4']
AACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGC
AACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTG
pathogenic
175,246
Chromosome 11, position 47332568, gene MYBPC3 (myosin binding protein C3): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Primary_familial_hypertrophic_cardiomyopathy']
AACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGC
AACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCN
pathogenic
175,247
Gene mutation in MYBPC3 (myosin binding protein C3) at chromosome 11, position 47332575—is it benign or pathogenic? If pathogenic, specify the disease(s).
pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy']
CTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTG
CTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGN
pathogenic
175,248
Assess the variant on chromosome 11, position 47332583, impacting MYBPC3 (myosin binding protein C3): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy']
TCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCA
TCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCANNNNNNNNNN
pathogenic
175,249
The genetic variant at chromosome 11, position 47332643, affecting gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Hypertrophic_cardiomyopathy']
GGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTA
GGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGT
pathogenic
175,255
Variant in gene MYBPC3 (myosin binding protein C3), located at chromosome 11 position 47332680: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['Hypertrophic_cardiomyopathy']
TGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCT
TGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTN
pathogenic
175,259
Mutation found at chromosome 11 position 47332822, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy']
ATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCT
ATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTNNNNNNNNNN
pathogenic
175,266
Clinically, how would you classify the variant at chromosome 11, position 47332824, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy']
CACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCT
CACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCT
pathogenic
175,267
Regarding the variant found on chromosome 11 at position 47332826 in gene MYBPC3 (myosin binding protein C3): is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy']
CAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGC
CAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCNN
pathogenic
175,268
Gene mutation in MYBPC3 (myosin binding protein C3) at chromosome 11, position 47332832—is it benign or pathogenic? If pathogenic, specify the disease(s).
pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype']
TGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTT
TGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTT
pathogenic
175,269
Clinical significance of chromosome 11, position 47332836, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_10']
ATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCC
ATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCC
pathogenic
175,271
Is the genetic change at chromosome 11, position 47332837, within gene MYBPC3 (myosin binding protein C3) benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy']
TTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCT
TTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTN
pathogenic
175,273
For chromosome 11, position 47332889, gene MYBPC3 (myosin binding protein C3): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['Hypertrophic_cardiomyopathy_4']
ATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTT
ATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGT
pathogenic
175,279
Determine whether the variant at chromosome 11, position 47332968, in gene MYBPC3 (myosin binding protein C3) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Hypertrophic_cardiomyopathy']
GTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTC
GTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCG
pathogenic
175,292
The chromosome 11, position 47333195 genetic variant in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, indicate disease(s).
pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy']
CCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGG
CCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCAGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGN
pathogenic
175,305
Considering the variant on chromosome 11, location 47333196, 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_4']
CTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGC
CTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCN
pathogenic
175,306
The genetic variant at chromosome 11, position 47333202, affecting gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy']
GGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTC
GGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGT
pathogenic
175,307
Regarding the variant at chromosome 11 and position 47333210, affecting gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4']
TGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGA
TGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCCCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACT
pathogenic
175,309
Evaluate if the mutation on chromosome 11 at position 47333226 in MYBPC3 (myosin binding protein C3) is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['Hypertrophic_cardiomyopathy']
GCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTG
GCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACT
pathogenic
175,311
Does the genetic variant at chromosome 11, position 47333235, impacting gene MYBPC3 (myosin binding protein C3), appear benign or pathogenic? If pathogenic, name the associated disease(s).
pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Primary_familial_hypertrophic_cardiomyopathy']
ATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCT
ATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTN
pathogenic
175,315
Variant at chromosome position 47333281, chromosome 11, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy']
TTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTAT
TTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTA
pathogenic
175,327
Determine if the mutation at chromosome 11, position 47333295 in gene MYBPC3 (myosin binding protein C3) is benign or pathogenic. If pathogenic, what disease(s) is associated?
pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy']
GGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTT
GGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCAGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATT
pathogenic
175,331
Clinical classification of chromosome 11, position 47333297, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Disease(s) if pathogenic?
pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Primary_familial_hypertrophic_cardiomyopathy']
GGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTT
GGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTACAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTT
pathogenic
175,333
Variant in MYBPC3 (myosin binding protein C3), chromosome 11, position 47333306—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Hypertrophic_cardiomyopathy']
ATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAG
ATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGA
pathogenic
175,335
Determine whether the variant at chromosome 11, position 47333331, in gene MYBPC3 (myosin binding protein C3) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy']
CCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGA
CCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGG
pathogenic
175,338
Is the chromosome 11, position 47333552 variant in MYBPC3 (myosin binding protein C3) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy']
CCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGAT
CCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATNNNNNNNNNNNNN
pathogenic
175,343
The chromosome 11, position 47333619 genetic variant in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, indicate disease(s).
pathogenic; ['Hypertrophic_cardiomyopathy']
ACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTG
ACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACT
pathogenic
175,352
Considering the genetic mutation at chromosome 11, position 47333622, impacting MYBPC3 (myosin binding protein C3): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy']
CACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTC
CACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTTTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGC
pathogenic
175,353
The genetic variant at chromosome 11, position 47333668, affecting gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy']
ACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAG
ACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTTTTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTA
pathogenic
175,360
Clinically, how would you classify the variant at chromosome 11, position 47333703, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_10', 'Primary_familial_hypertrophic_cardiomyopathy']
TAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATAT
TAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATA
pathogenic
175,365
The mutation in gene MYBPC3 (myosin binding protein C3) at chromosome 11, position 47333706—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_10']
GGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTC
GGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCN
pathogenic
175,366
Evaluate the clinical significance of the mutation at chromosome 11, position 47333736 in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
pathogenic; ['Hypertrophic_cardiomyopathy']
CCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTG
CCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGNN
pathogenic
175,371
The genetic variant at chromosome 11, position 47333741, affecting gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy']
CACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCT
CACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTNN
pathogenic
175,373
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 47333920, gene MYBPC3 (myosin binding protein C3): what disease(s) if pathogenic?
pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy']
CACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTC
CACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCN
pathogenic
175,380
Located at chromosome 11 position 47333968, the variant affecting gene MYBPC3 (myosin binding protein C3)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['Hypertrophic_cardiomyopathy']
CTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGG
CTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCTTGAACCAGGAAATCTTGGGCTATAAATAAGGTAAAGAGAGGGAGGGAAGCCATCCAGGCTGAGAGGGGACCTGGCAGGGACCCAGGGAGACACATCTGTGTTTCTACTCGGGGGGTCCCACGAGAGTCCCTGACTATGCCCAAGGCTGGAAACAAACATGGAACCAAGAGTGAGTACCATGGCCCTGCCCAGGGGGAGGAACCCGGTCCATACACCCCAAGGTGGAGAGAAAGCAGGGGAGACAGGCTGGGGAGAGGACTGCTCAACGTCGGGGCCTGTGAGCCCTGCCTCCTGGTCGGCCTGGACCAGCGCCTAAAGTTCCCTACCTTGGGGCTACCCCGGACAGCACAGCAGAGCATAGCAGTGTAGCCCGCGATGACCGAGCGGTTCACCAGGGGCTGGGTGAAGCTTGGGGCCTCGGAGAAGTCCAGGGCCTTATAGTTGGGTGGCTCATAGGTGATGCCTGTTGGTGACAGGACTTGGTACCGAGAGGGCCACACAAAGCTAGGCCCCTCTCCCTGTTCCCACAGCCTCCCTGCCCCAGCCCCTGGTTGGAAGAATGAGGGTACAGCACCTGGTCTGGGGATAAAGACGGGCTCCTTGGTGGTGGCCGCTCTGTCACTAAAGCCAACCATATTCTGGCTGAAGACGCGGAAGTAGTAGCCATTGCCAATGATGAGCTCTGGCACCACGCAGTGGGTGCGGCGGTAATGCTCCAAGACGGTGAACCACTCCTGGGGGCAGGGAGGGAGGGGAGGCATCTCTGGGCCAGGCCCTTCCTGATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGNNNNN
pathogenic
175,387
A genetic variant on chromosome 11, position 47335070, 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']
ATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGT
ATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTNN
pathogenic
175,408
Evaluate if the mutation on chromosome 11 at position 47335081 in MYBPC3 (myosin binding protein C3) is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_10', 'Primary_familial_hypertrophic_cardiomyopathy']
CTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAA
CTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAANN
pathogenic
175,409
Considering the variant on chromosome 11, location 47335100, 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', 'Hypertrophic_cardiomyopathy_4']
CATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAA
CATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCAATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGA
pathogenic
175,411
Determine whether the variant at chromosome 11, position 47335112, in gene MYBPC3 (myosin binding protein C3) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4']
TACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGC
TACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCNN
pathogenic
175,413
Is the genetic change at chromosome 11, position 47335157, within gene MYBPC3 (myosin binding protein C3) benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy', 'Primary_familial_hypertrophic_cardiomyopathy']
CGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAA
CGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAN
pathogenic
175,418
The mutation impacting MYBPC3 (myosin binding protein C3) on chromosome 11 at position 47335165: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy']
ACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCA
ACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCANN
pathogenic
175,421
Variant at chromosome 11, position 47335179, gene MYBPC3 (myosin binding protein C3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy']
CTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGA
CTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCACCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAN
pathogenic
175,423
The chromosome 11, position 47335180 genetic variant in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, indicate disease(s).
pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy_4']
TGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAG
TGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGN
pathogenic
175,424
For chromosome 11, position 47335207, gene MYBPC3 (myosin binding protein C3): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['Hypertrophic_cardiomyopathy']
AGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGC
AGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGACCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCN
pathogenic
175,430
Is the genetic mutation found on chromosome 11 at position 47335221, within the gene MYBPC3 (myosin binding protein C3), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
benign
GACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGT
GACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCTTGGCCCCAGCAGCCCAGCCCAGGGAAGGGAAACAAGGGGGCTCAAGGAGGCCTTGGCCACGCACCAACAACCTGCAGCACCAGCGTGGCCTTGTCCTCCATGTTCTCAATGCGCACCGTCACCTGGTAAGTGCCTGAATGCACGCGGCGAGCGGCCCGGATGAACAGGATGGTGTCTGTGGGGCTGTTGCGGATGCTCACCTCCTCGCCTGCCAGGGGCTGCCCCTCTTTGGTCCAGGTCACCTGAGGCCGGGGCTTGCCCTGAGGGGAGGAAAAGCTTAACCCTGAACCTGGATCACTCCAAGGGCCGGCCGCCACCCCAGCCTCTGGTACCTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTN
benign
175,433
Is the genetic variant on chromosome 11, position 47335873, gene MYBPC3 (myosin binding protein C3), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy']
CTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGA
CTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGANN
pathogenic
175,438
Evaluate this variant at chromosome 11, position 47335884, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_10']
CCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAA
CCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAAN
pathogenic
175,441
Variant in MYBPC3 (myosin binding protein C3), chromosome 11, position 47335894—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy']
GACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTT
GACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCAGGGTGTAAGCCTGGGCTTTGACACCCTATGCCCTGTGTTGTTACCACCTGAGTTTGCTGCCTCGTTCCAGCTTTGAGAACCAATCCTTACAAAAGATGGACCCTTTGTTGGGACAAGGAACAAAGGAATGGGAAGTGGATCCCAGAGGGACCAATCTGACTACATAGACAATATTTACCTGTTGGAGCTGAGACACTCCTGGAAGAGAGCTTGGGTACTGTGGCTTTTACTTTCCCTGTTCCAGAACTAAGGGACTGACATACACCAAGAGAGCCCTTTCTGCACTTTTTTTTTTTTTGAGACGTTGTCTCACTCTGTCACCCAGACTGGAGTGCAATAGTGTGATCTCAGCTCATTGCAACTGCCACCTCCCGGGTCCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGTTGAGGGACTACAGGCACGCGCCACCACACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCTTGAGCCACTGTGCCTGGCCACCCTCTCTGCACTTTTTCCCTAGGCCTAGCGCATGGACGATGGCTCCAACCCCTCCTGTCTCTGCCCAGCGTTCTGGGCAGAGCATTCTGGGCCTCCCCAACTGTCCCCACCTCCACTGGACACCAAGGGCCTGGGGTGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGTCACCGGCTCCGTGGTGGTAACAGGGGCTCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTGCAGGGCAGCCACCCACTCTGAGCCTGGGGGTGGGGAGGGGGAGGCAAGGCCACAGGCTGTGTCACCACTGACACCCCACTCCCACTGCCCACTCCTCTGATAGGAATCTCCAGGATTTAAATATGTTTTTTTAAATTTTTATTTGTTTATTTATTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGGAGATCCATGCCCTAGACTCTGAACTGCCCACTGGTCACATAGGGGGCACTTCCTGTTCAGCTGGCTTTTGGCCACTTTAAGGAATATTTTGTCCCTGTTACAAGACATGTCTGTAGATTGGCTTAAAAACAAACAGCAACAGCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGGATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGTGAAGGTTACAGTGACCCCAGATCGCGCCAGGACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACAGCCCTTGCCCCATCCCATAGGTGAAAACCCTGGGTTGAAGGGTGTGGAGAACAGGGGACAATGAACATTTATTGAGCACCTGTTAGATGCCAGATGGCCTGCCTGGTCATCCCATATCATCCTAACAGCTCTCTGAGATAGGCAGTGTCATTATTCCCATTTTGTAGACATGGAAAGAGAGGCTTGAAACGTGAACTAGGGGTCGGCGTAGTGTGAGAGTCAGCTCCACCCCAACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCAGTCGAGGATGAAAGGAGACTGTGGATGTGAGTGTCTAGCATGGCTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTNNNNNNNNNNN
pathogenic
175,444