ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
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Task1_train_19500 | This variant impacts the gene MYH7 (myosin heavy chain 7) on Chromosome 14. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hypertrophic cardiomyopathy | ATCTAACTAACCCTGATATCTGGGACTAGGGGAGGAAAGCCCTTGCCTGGGAGGCCTTTTCCCATGGTTTGCGCCTCCACTTGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCA... | ATCTAACTAACCCTGATATCTGGGACTAGGGGAGGAAAGCCCTTGCCTGGGAGGCCTTTTCCCATGGTTTGCGCCTCCACTTGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCA... |
Task1_train_19501 | The following genetic variant occurs in MYH7 (myosin heavy chain 7) on Chromosome 14. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Cardiovascular phenotype | ATCTAACTAACCCTGATATCTGGGACTAGGGGAGGAAAGCCCTTGCCTGGGAGGCCTTTTCCCATGGTTTGCGCCTCCACTTGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCA... | ATCTAACTAACCCTGATATCTGGGACTAGGGGAGGAAAGCCCTTGCCTGGGAGGCCTTTTCCCATGGTTTGCGCCTCCACTTGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCA... |
Task1_train_19502 | This mutation is located in gene MYH7 (myosin heavy chain 7) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hypertrophic cardiomyopathy | GTTTGCGCCTCCACTTGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGA... | GTTTGCGCCTCCACTTGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGA... |
Task1_train_19503 | Consider a variant on Chromosome 14 in gene MYH7 (myosin heavy chain 7). Determine its clinical classification and disease relevance. | Pathogenic; Hypertrophic cardiomyopathy | CGCCTCCACTTGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGATTTTG... | CGCCTCCACTTGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGATTTTG... |
Task1_train_19504 | Here is a mutation in MYH7 (myosin heavy chain 7) on Chromosome 14. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Primary dilated cardiomyopathy | CACTTGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGATTTTGTTGTTC... | CACTTGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGATTTTGTTGTTC... |
Task1_train_19505 | Consider a variant on Chromosome 14 in gene MYH7 (myosin heavy chain 7). Determine its clinical classification and disease relevance. | Pathogenic; Primary dilated cardiomyopathy | ACTTGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGATTTTGTTGTTCA... | ACTTGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGATTTTGTTGTTCA... |
Task1_train_19506 | Assess the clinical impact of this variant on gene MYH7 (myosin heavy chain 7), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hypertrophic cardiomyopathy | TGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGATTTTGTTGTTCAGTT... | TGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGATTTTGTTGTTCAGTT... |
Task1_train_19507 | Assess the clinical impact of this variant on gene MYH7 (myosin heavy chain 7), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hypertrophic cardiomyopathy | TCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGATTTTGTTGTTCAGTTACCTCAGGACTTGGTAAATCTTTGTG... | TCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGATTTTGTTGTTCAGTTACCTCAGGACTTGGTAAATCTTTGTG... |
Task1_train_19508 | Given this context: Chromosome 14, gene LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hypertrophic cardiomyopathy | CAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATG... | CAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATG... |
Task1_train_19509 | Consider this mutation in LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7) on Chromosome 14. Is this a benign change or a disease-causing variant? | Pathogenic; Hypertrophic cardiomyopathy | CCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCC... | CCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCC... |
Task1_train_19510 | The gene LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7), on Chromosome 14, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Restrictive cardiomyopathy | CCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATC... | CCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATC... |
Task1_train_19511 | This variant affects gene LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7) located on Chromosome 14. Evaluate its biological effect and specify any disease association. | Pathogenic; Cardiovascular phenotype | TCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATAT... | TCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATAT... |
Task1_train_19512 | A genetic alteration is present in LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7) on Chromosome 14. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hypertrophic cardiomyopathy | TCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATAT... | TCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATAT... |
Task1_train_19513 | Chromosome 14 houses a mutation in gene LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hypertrophic cardiomyopathy | CTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGG... | CTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGG... |
Task1_train_19514 | Mutation context: Chromosome 14, Gene LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Cardiovascular phenotype | CTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGG... | CTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGG... |
Task1_train_19515 | This variant impacts the gene LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7) on Chromosome 14. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hypertrophic cardiomyopathy | GCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCC... | GCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCC... |
Task1_train_19516 | This sequence change occurs on Chromosome 14, altering LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hypertrophic cardiomyopathy | ACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGC... | ACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGC... |
Task1_train_19517 | This variant impacts the gene LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7) on Chromosome 14. Is the change likely to result in a pathogenic outcome? | Pathogenic; Cardiovascular phenotype | ACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGC... | ACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGC... |
Task1_train_19518 | This variant impacts the gene LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7) on Chromosome 14. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hypertrophic cardiomyopathy | CATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCC... | CATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCC... |
Task1_train_19519 | This sequence change occurs on Chromosome 14, altering LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hypertrophic cardiomyopathy 1 | CATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCC... | CATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCC... |
Task1_train_19520 | This mutation is located in gene LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hypertrophic cardiomyopathy | CATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCC... | CATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCC... |
Task1_train_19521 | A sequence alteration has been identified in LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7) on Chromosome 14. Is it disease-inducing or harmless? | Pathogenic; Hypertrophic cardiomyopathy | TTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCT... | TTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCT... |
Task1_train_19522 | This variant affects the gene LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Cardiovascular phenotype | TTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCT... | TTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCT... |
Task1_train_19523 | This mutation is located in gene LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Cardiomyopathy | TTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCT... | TTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCT... |
Task1_train_19524 | This sequence change occurs on Chromosome 14, altering LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hypertrophic cardiomyopathy | CAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGAT... | CAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGAT... |
Task1_train_19525 | A mutation found in MYH7 (myosin heavy chain 7) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hypertrophic cardiomyopathy | CAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCAT... | CAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCAT... |
Task1_train_19526 | This is a variant in MYH7 (myosin heavy chain 7), located on Chromosome 14. Is this mutation a likely cause of disease or not? | Pathogenic; Hypertrophic cardiomyopathy | CAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCAT... | CAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCAT... |
Task1_train_19527 | This sequence change occurs on Chromosome 14, altering MYH7 (myosin heavy chain 7). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hypertrophic cardiomyopathy | GCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCA... | GCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCA... |
Task1_train_19528 | A mutation found in MYH7 (myosin heavy chain 7) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hypertrophic cardiomyopathy | CAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCA... | CAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCA... |
Task1_train_19529 | This alteration occurs within gene MYH7 (myosin heavy chain 7) located on Chromosome 14. Is it associated with a disease or is it a benign variant? | Pathogenic; Hypertrophic cardiomyopathy | CAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCA... | CAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCA... |
Task1_train_19530 | A change on Chromosome 14 affects gene MYH7 (myosin heavy chain 7). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hypertrophic cardiomyopathy | GTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGA... | GTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGA... |
Task1_train_19531 | Gene MYH7 (myosin heavy chain 7), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hypertrophic cardiomyopathy | TGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAG... | TGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAG... |
Task1_train_19532 | The following genetic variant occurs in MYH7 (myosin heavy chain 7) on Chromosome 14. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Cardiovascular phenotype | CTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAA... | CTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAA... |
Task1_train_19533 | The gene MYH7 (myosin heavy chain 7) on Chromosome 14 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hypertrophic cardiomyopathy | TTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCT... | TTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCT... |
Task1_train_19534 | This mutation is located in gene MYH7 (myosin heavy chain 7) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hypertrophic cardiomyopathy | TTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCT... | TTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCT... |
Task1_train_19535 | The gene MYH7 (myosin heavy chain 7), on Chromosome 14, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Familial cardiomyopathy | AGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAG... | AGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAG... |
Task1_train_19536 | This genomic variant is located on Chromosome 14, within the MYH7 (myosin heavy chain 7) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hypertrophic cardiomyopathy | TGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCAT... | TGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCAT... |
Task1_train_19537 | Consider a variant on Chromosome 14 in gene MYH7 (myosin heavy chain 7). Determine its clinical classification and disease relevance. | Pathogenic; Cardiomyopathy | GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATT... | GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATT... |
Task1_train_19538 | Gene MYH7 (myosin heavy chain 7) on Chromosome 14 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hypertrophic cardiomyopathy 1 | GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATT... | GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATT... |
Task1_train_19539 | This variant affects gene MYH7 (myosin heavy chain 7) located on Chromosome 14. Evaluate its biological effect and specify any disease association. | Pathogenic; Myopathy, myosin storage, autosomal recessive | GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATT... | GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATT... |
Task1_train_19540 | A variant on Chromosome 14 in gene MYH7 (myosin heavy chain 7) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Myosin storage myopathy | GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATT... | GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATT... |
Task1_train_19541 | The gene MYH7 (myosin heavy chain 7) is located on Chromosome 14, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Dilated cardiomyopathy 1S | GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATT... | GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATT... |
Task1_train_19542 | This sequence change occurs on Chromosome 14, altering MYH7 (myosin heavy chain 7). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; MYH7-related skeletal myopathy | GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATT... | GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATT... |
Task1_train_19543 | A sequence alteration has been identified in MYH7 (myosin heavy chain 7) on Chromosome 14. Is it disease-inducing or harmless? | Pathogenic; Cardiovascular phenotype | GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATT... | GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATT... |
Task1_train_19544 | This variant affects the gene MYH7 (myosin heavy chain 7) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hypertrophic cardiomyopathy | GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATT... | GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATT... |
Task1_train_19545 | This alteration occurs within gene MYH7 (myosin heavy chain 7) located on Chromosome 14. Is it associated with a disease or is it a benign variant? | Pathogenic; Primary familial hypertrophic cardiomyopathy | GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATT... | GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATT... |
Task1_train_19546 | The variant affects gene MYH7 (myosin heavy chain 7), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hypertrophic cardiomyopathy 1 | GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATT... | GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATT... |
Task1_train_19547 | A variant affecting Chromosome 14, within the gene MYH7 (myosin heavy chain 7), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Dilated cardiomyopathy 1S | GGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCT... | GGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCT... |
Task1_train_19548 | Here’s a variant in MYH7 (myosin heavy chain 7) located on Chromosome 14. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Cardiovascular phenotype | GAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAG... | GAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAG... |
Task1_train_19549 | This is a variant in MYH7 (myosin heavy chain 7), located on Chromosome 14. Is this mutation a likely cause of disease or not? | Pathogenic; Hypertrophic cardiomyopathy | AAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGG... | AAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGG... |
Task1_train_19550 | This mutation is located in gene MYH7 (myosin heavy chain 7) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hypertrophic cardiomyopathy 1 | AAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGG... | AAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGG... |
Task1_train_19551 | This mutation is located in gene MYH7 (myosin heavy chain 7) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Cardiovascular phenotype | AAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGG... | AAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGG... |
Task1_train_19552 | Consider this mutation in MYH7 (myosin heavy chain 7) on Chromosome 14. Is this a benign change or a disease-causing variant? | Pathogenic; Primary familial hypertrophic cardiomyopathy | AAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGG... | AAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGG... |
Task1_train_19553 | Consider a variant on Chromosome 14 in gene MYH7 (myosin heavy chain 7). Determine its clinical classification and disease relevance. | Pathogenic; not provided | ATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTC... | ATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTC... |
Task1_train_19554 | A change on Chromosome 14 affects gene MYH7 (myosin heavy chain 7). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hypertrophic cardiomyopathy | ACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTC... | ACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTC... |
Task1_train_19555 | This variant affects the gene MYH7 (myosin heavy chain 7) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hypertrophic cardiomyopathy | AATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGT... | AATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGT... |
Task1_train_19556 | Consider this mutation in MYH7 (myosin heavy chain 7) on Chromosome 14. Is this a benign change or a disease-causing variant? | Pathogenic; Hypertrophic cardiomyopathy | TACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCA... | TACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCA... |
Task1_train_19557 | Gene MYH7 (myosin heavy chain 7) on Chromosome 14 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Primary dilated cardiomyopathy | GTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGC... | GTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGC... |
Task1_train_19558 | This sequence variant lies in MYH7 (myosin heavy chain 7) on Chromosome 14. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hypertrophic cardiomyopathy 1 | TAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGT... | TAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGT... |
Task1_train_19559 | A mutation in MYH7 (myosin heavy chain 7), located on Chromosome 14, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Familial cardiomyopathy | AACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTG... | AACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTG... |
Task1_train_19560 | A variant was discovered in gene MYH7 (myosin heavy chain 7), Chromosome 14. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | ATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCC... | ATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCC... |
Task1_train_19561 | The gene MYH7 (myosin heavy chain 7) on Chromosome 14 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hypertrophic cardiomyopathy | ATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCC... | ATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCC... |
Task1_train_19562 | This variant affects gene MYH7 (myosin heavy chain 7) located on Chromosome 14. Evaluate its biological effect and specify any disease association. | Pathogenic; Hypertrophic cardiomyopathy | GGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCC... | GGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCC... |
Task1_train_19563 | This alteration in MYH7 (myosin heavy chain 7) on Chromosome 14 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hypertrophic cardiomyopathy | GAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCT... | GAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCT... |
Task1_train_19564 | The gene MYH7 (myosin heavy chain 7) is located on Chromosome 14, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hypertrophic cardiomyopathy | GAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCT... | GAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCT... |
Task1_train_19565 | This mutation occurs in MYH7 (myosin heavy chain 7) on Chromosome 14. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | AAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGG... | AAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGG... |
Task1_train_19566 | A variant was discovered on Chromosome 14, affecting MYH7 (myosin heavy chain 7). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | GGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACC... | GGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACC... |
Task1_train_19567 | This is a variant in MYH7 (myosin heavy chain 7), located on Chromosome 14. Is this mutation a likely cause of disease or not? | Pathogenic; Hypertrophic cardiomyopathy | TCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCT... | TCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCT... |
Task1_train_19568 | Gene MYH7 (myosin heavy chain 7) on Chromosome 14 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Cardiovascular phenotype | TCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCT... | TCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCT... |
Task1_train_19569 | A change on Chromosome 14 affects gene MYH7 (myosin heavy chain 7). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hypertrophic cardiomyopathy | TCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCT... | TCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCT... |
Task1_train_19570 | Assess the clinical impact of this variant on gene MYH7 (myosin heavy chain 7), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hypertrophic cardiomyopathy | CCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTG... | CCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTG... |
Task1_train_19571 | This mutation is located in gene MYH7 (myosin heavy chain 7) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hypertrophic cardiomyopathy | CTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCA... | CTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCA... |
Task1_train_19572 | A change on Chromosome 14 affects gene MYH7 (myosin heavy chain 7). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Familial cardiomyopathy | TGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTT... | TGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTT... |
Task1_train_19573 | This sequence variant lies in MYH7 (myosin heavy chain 7) on Chromosome 14. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Familial cardiomyopathy | CGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATT... | CGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATT... |
Task1_train_19574 | The gene MYH7 (myosin heavy chain 7), on Chromosome 14, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hypertrophic cardiomyopathy | TAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAA... | TAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAA... |
Task1_train_19575 | This variant lies on Chromosome 14 and affects the gene MYH7 (myosin heavy chain 7). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hypertrophic cardiomyopathy | GGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTG... | GGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTG... |
Task1_train_19576 | Gene MYH7 (myosin heavy chain 7), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Cardiovascular phenotype | GGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTG... | GGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTG... |
Task1_train_19577 | A mutation on Chromosome 14 affecting MYH7 (myosin heavy chain 7) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hypertrophic cardiomyopathy | GTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGA... | GTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGA... |
Task1_train_19578 | A variant was discovered on Chromosome 14, affecting MYH7 (myosin heavy chain 7). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | GGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCA... | GGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCA... |
Task1_train_19579 | This sequence change occurs on Chromosome 14, altering THTPA, ZFHX2 (thiamine triphosphatase| zinc finger homeobox 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Indifference to pain, congenital, autosomal dominant | CTTCACGCCCACTCAGCAGCACCTCACATGCCAGGCAGTGGTAGGTGCAGATGGGCACCCGCAATGGGGGTGGCATGGAGCCCCCAGAGCCCCGCCCAAAGAAGCAGAAGGATCTCTGGTGGGCAGTAGCCGGGGCCTCCCCGTCAAATGCCATCTTGCACTGGCGGCACAGGTAGCGATGGGTTACATCCACGGTGGAGATGCCAGTGCTGCCTGTCAGCAGCTCATCAACCTCACCAGCTTCCCCCTCCCCTGGAGCAGGCAGTTCAGGAGGCTTTGGAGGTGCTGTGGCTGTGGGCTCAGGGGGCTGGGGTGGCGGC... | CTTCACGCCCACTCAGCAGCACCTCACATGCCAGGCAGTGGTAGGTGCAGATGGGCACCCGCAATGGGGGTGGCATGGAGCCCCCAGAGCCCCGCCCAAAGAAGCAGAAGGATCTCTGGTGGGCAGTAGCCGGGGCCTCCCCGTCAAATGCCATCTTGCACTGGCGGCACAGGTAGCGATGGGTTACATCCACGGTGGAGATGCCAGTGCTGCCTGTCAGCAGCTCATCAACCTCACCAGCTTCCCCCTCCCCTGGAGCAGGCAGTTCAGGAGGCTTTGGAGGTGCTGTGGCTGTGGGCTCAGGGGGCTGGGGTGGCGGC... |
Task1_train_19580 | A genetic alteration is present in NRL (neural retina leucine zipper) on Chromosome 14. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | AAGCTAAAGGTTCTGTGAGCCCCTCAGAGAGAGAATCCAGAGCCAGAGAGGATGGCCAGTGGCCAATGGTGGGGAAGGGAGAGGAGACGAGAGAAATTCTGAGAGCGATGGAGGAGAGGACTCCCATTGCAGGCTCCTAAGCGGAGGAGGGATGAGCTGGGATAGAGGAGGGGAAAGAGGGAGCAAGAACTGTGATGGGAAGAGAAGAGACAGCTGGGGAGGGGGTGGAGAGAGGGGGTAGAAAGGAAGAGGGACATATGGGAGCCTCTTCCCCCATGCCCGAAAGCTTCTCCCATTTATTATGTCCGGTAGAGGACAGA... | AAGCTAAAGGTTCTGTGAGCCCCTCAGAGAGAGAATCCAGAGCCAGAGAGGATGGCCAGTGGCCAATGGTGGGGAAGGGAGAGGAGACGAGAGAAATTCTGAGAGCGATGGAGGAGAGGACTCCCATTGCAGGCTCCTAAGCGGAGGAGGGATGAGCTGGGATAGAGGAGGGGAAAGAGGGAGCAAGAACTGTGATGGGAAGAGAAGAGACAGCTGGGGAGGGGGTGGAGAGAGGGGGTAGAAAGGAAGAGGGACATATGGGAGCCTCTTCCCCCATGCCCGAAAGCTTCTCCCATTTATTATGTCCGGTAGAGGACAGA... |
Task1_train_19581 | This is a variant in NRL (neural retina leucine zipper), located on Chromosome 14. Is this mutation a likely cause of disease or not? | Pathogenic; Retinal dystrophy | CACCAACAACCCCCAGAGCTCACTCTTCAGGCCTTTGCTGCTCTGAGCCCTGAAGGCCACAGGGTTGGGCAGGGAAAAAGCATCTCGGATAGAGGTCCTAATCTATCTAGTTGTTGGATATTGAAATCTTGAAAATTCTGTAGTGCTAAAATGGGGAGGTTACAAGCTTCAGAATGAAAATACAGCCTCATTGCTAATTACAGCTTTAATGTGTTACAGGTTGAAAACCCTGAATTAAAAACTAAACTGAGGTGGGAGCTGCAACCCTCCTCCACCTCCCATTCACTGTGTCACCACACTTCCACCCCCCAGTGCCTGGC... | CACCAACAACCCCCAGAGCTCACTCTTCAGGCCTTTGCTGCTCTGAGCCCTGAAGGCCACAGGGTTGGGCAGGGAAAAAGCATCTCGGATAGAGGTCCTAATCTATCTAGTTGTTGGATATTGAAATCTTGAAAATTCTGTAGTGCTAAAATGGGGAGGTTACAAGCTTCAGAATGAAAATACAGCCTCATTGCTAATTACAGCTTTAATGTGTTACAGGTTGAAAACCCTGAATTAAAAACTAAACTGAGGTGGGAGCTGCAACCCTCCTCCACCTCCCATTCACTGTGTCACCACACTTCCACCCCCCAGTGCCTGGC... |
Task1_train_19582 | This alteration in NRL (neural retina leucine zipper) on Chromosome 14 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | ACCAACAACCCCCAGAGCTCACTCTTCAGGCCTTTGCTGCTCTGAGCCCTGAAGGCCACAGGGTTGGGCAGGGAAAAAGCATCTCGGATAGAGGTCCTAATCTATCTAGTTGTTGGATATTGAAATCTTGAAAATTCTGTAGTGCTAAAATGGGGAGGTTACAAGCTTCAGAATGAAAATACAGCCTCATTGCTAATTACAGCTTTAATGTGTTACAGGTTGAAAACCCTGAATTAAAAACTAAACTGAGGTGGGAGCTGCAACCCTCCTCCACCTCCCATTCACTGTGTCACCACACTTCCACCCCCCAGTGCCTGGCA... | ACCAACAACCCCCAGAGCTCACTCTTCAGGCCTTTGCTGCTCTGAGCCCTGAAGGCCACAGGGTTGGGCAGGGAAAAAGCATCTCGGATAGAGGTCCTAATCTATCTAGTTGTTGGATATTGAAATCTTGAAAATTCTGTAGTGCTAAAATGGGGAGGTTACAAGCTTCAGAATGAAAATACAGCCTCATTGCTAATTACAGCTTTAATGTGTTACAGGTTGAAAACCCTGAATTAAAAACTAAACTGAGGTGGGAGCTGCAACCCTCCTCCACCTCCCATTCACTGTGTCACCACACTTCCACCCCCCAGTGCCTGGCA... |
Task1_train_19583 | This sequence variant lies in NRL (neural retina leucine zipper) on Chromosome 14. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Retinal dystrophy | CAACAACCCCCAGAGCTCACTCTTCAGGCCTTTGCTGCTCTGAGCCCTGAAGGCCACAGGGTTGGGCAGGGAAAAAGCATCTCGGATAGAGGTCCTAATCTATCTAGTTGTTGGATATTGAAATCTTGAAAATTCTGTAGTGCTAAAATGGGGAGGTTACAAGCTTCAGAATGAAAATACAGCCTCATTGCTAATTACAGCTTTAATGTGTTACAGGTTGAAAACCCTGAATTAAAAACTAAACTGAGGTGGGAGCTGCAACCCTCCTCCACCTCCCATTCACTGTGTCACCACACTTCCACCCCCCAGTGCCTGGCACT... | CAACAACCCCCAGAGCTCACTCTTCAGGCCTTTGCTGCTCTGAGCCCTGAAGGCCACAGGGTTGGGCAGGGAAAAAGCATCTCGGATAGAGGTCCTAATCTATCTAGTTGTTGGATATTGAAATCTTGAAAATTCTGTAGTGCTAAAATGGGGAGGTTACAAGCTTCAGAATGAAAATACAGCCTCATTGCTAATTACAGCTTTAATGTGTTACAGGTTGAAAACCCTGAATTAAAAACTAAACTGAGGTGGGAGCTGCAACCCTCCTCCACCTCCCATTCACTGTGTCACCACACTTCCACCCCCCAGTGCCTGGCACT... |
Task1_train_19584 | Given this variant in gene NRL (neural retina leucine zipper) on Chromosome 14, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Retinal dystrophy | AACAACCCCCAGAGCTCACTCTTCAGGCCTTTGCTGCTCTGAGCCCTGAAGGCCACAGGGTTGGGCAGGGAAAAAGCATCTCGGATAGAGGTCCTAATCTATCTAGTTGTTGGATATTGAAATCTTGAAAATTCTGTAGTGCTAAAATGGGGAGGTTACAAGCTTCAGAATGAAAATACAGCCTCATTGCTAATTACAGCTTTAATGTGTTACAGGTTGAAAACCCTGAATTAAAAACTAAACTGAGGTGGGAGCTGCAACCCTCCTCCACCTCCCATTCACTGTGTCACCACACTTCCACCCCCCAGTGCCTGGCACTG... | AACAACCCCCAGAGCTCACTCTTCAGGCCTTTGCTGCTCTGAGCCCTGAAGGCCACAGGGTTGGGCAGGGAAAAAGCATCTCGGATAGAGGTCCTAATCTATCTAGTTGTTGGATATTGAAATCTTGAAAATTCTGTAGTGCTAAAATGGGGAGGTTACAAGCTTCAGAATGAAAATACAGCCTCATTGCTAATTACAGCTTTAATGTGTTACAGGTTGAAAACCCTGAATTAAAAACTAAACTGAGGTGGGAGCTGCAACCCTCCTCCACCTCCCATTCACTGTGTCACCACACTTCCACCCCCCAGTGCCTGGCACTG... |
Task1_train_19585 | A sequence alteration has been identified in NRL (neural retina leucine zipper) on Chromosome 14. Is it disease-inducing or harmless? | Pathogenic; Retinitis pigmentosa 27 | AACAACCCCCAGAGCTCACTCTTCAGGCCTTTGCTGCTCTGAGCCCTGAAGGCCACAGGGTTGGGCAGGGAAAAAGCATCTCGGATAGAGGTCCTAATCTATCTAGTTGTTGGATATTGAAATCTTGAAAATTCTGTAGTGCTAAAATGGGGAGGTTACAAGCTTCAGAATGAAAATACAGCCTCATTGCTAATTACAGCTTTAATGTGTTACAGGTTGAAAACCCTGAATTAAAAACTAAACTGAGGTGGGAGCTGCAACCCTCCTCCACCTCCCATTCACTGTGTCACCACACTTCCACCCCCCAGTGCCTGGCACTG... | AACAACCCCCAGAGCTCACTCTTCAGGCCTTTGCTGCTCTGAGCCCTGAAGGCCACAGGGTTGGGCAGGGAAAAAGCATCTCGGATAGAGGTCCTAATCTATCTAGTTGTTGGATATTGAAATCTTGAAAATTCTGTAGTGCTAAAATGGGGAGGTTACAAGCTTCAGAATGAAAATACAGCCTCATTGCTAATTACAGCTTTAATGTGTTACAGGTTGAAAACCCTGAATTAAAAACTAAACTGAGGTGGGAGCTGCAACCCTCCTCCACCTCCCATTCACTGTGTCACCACACTTCCACCCCCCAGTGCCTGGCACTG... |
Task1_train_19586 | This genomic variant is located on Chromosome 14, within the TINF2 (TERF1 interacting nuclear factor 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; TINF2-related disorder | TAAGAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGA... | TAAGAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGA... |
Task1_train_19587 | This variant affects gene TINF2 (TERF1 interacting nuclear factor 2) located on Chromosome 14. Evaluate its biological effect and specify any disease association. | Pathogenic; Dyskeratosis congenita, autosomal dominant 3 | AGAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGG... | AGAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGG... |
Task1_train_19588 | This genomic variant is located on Chromosome 14, within the TINF2 (TERF1 interacting nuclear factor 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Dyskeratosis congenita, autosomal dominant 1 | AGAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGG... | AGAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGG... |
Task1_train_19589 | Here is a mutation in TINF2 (TERF1 interacting nuclear factor 2) on Chromosome 14. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Revesz syndrome | AGAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGG... | AGAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGG... |
Task1_train_19590 | This variant impacts the gene TINF2 (TERF1 interacting nuclear factor 2) on Chromosome 14. Is the change likely to result in a pathogenic outcome? | Pathogenic; Dyskeratosis congenita | AGAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGG... | AGAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGG... |
Task1_train_19591 | Located on Chromosome 14, this mutation impacts TINF2 (TERF1 interacting nuclear factor 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Dyskeratosis congenita, autosomal dominant 3 | AGAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGG... | AGAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGG... |
Task1_train_19592 | Located on Chromosome 14, this mutation impacts TINF2 (TERF1 interacting nuclear factor 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Dyskeratosis congenita | GAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGGG... | GAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGGG... |
Task1_train_19593 | This gene mutation involves TINF2 (TERF1 interacting nuclear factor 2) on Chromosome 14. Is it associated with any clinical condition, or is it benign? | Pathogenic; Dyskeratosis congenita, autosomal dominant 3 | GAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGGG... | GAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGGG... |
Task1_train_19594 | This variant affects the gene TINF2 (TERF1 interacting nuclear factor 2) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Dyskeratosis congenita | GAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGGG... | GAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGGG... |
Task1_train_19595 | Gene TINF2 (TERF1 interacting nuclear factor 2), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | CAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGGGCTCCTG... | CAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGGGCTCCTG... |
Task1_train_19596 | A variant affecting Chromosome 14, within the gene TGM1 (transglutaminase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal recessive congenital ichthyosis 1 | CAAAGATCAACATAGCTTCCTTCTCAGCTTTGGCCTAATGGCGAAGGTGGCAGCCACCACCAGGAGAGCTGCTGTGTGTGAGGGAGGGGTGGGCAAGTGGGCAGGGGGTCCTCTGCTTCCTCCCCTCAGTTTCCCCACCCCAAGCCATTGTTCTTTCTCAGGAACTCGCTGTCTGAAGATGAAGCCTGCCCCTGTCCCAGAAGGCTGATCTAGAAGGCCAGGCTCTGGCCTGCTCTGCTTTCCCTCCGTGCTTTTCCTAGGCGGGGACGGGGCAGCACGTGTAAGTCTGTATCAAAGATGACAGCCGCAGGCCCAGGAAC... | CAAAGATCAACATAGCTTCCTTCTCAGCTTTGGCCTAATGGCGAAGGTGGCAGCCACCACCAGGAGAGCTGCTGTGTGTGAGGGAGGGGTGGGCAAGTGGGCAGGGGGTCCTCTGCTTCCTCCCCTCAGTTTCCCCACCCCAAGCCATTGTTCTTTCTCAGGAACTCGCTGTCTGAAGATGAAGCCTGCCCCTGTCCCAGAAGGCTGATCTAGAAGGCCAGGCTCTGGCCTGCTCTGCTTTCCCTCCGTGCTTTTCCTAGGCGGGGACGGGGCAGCACGTGTAAGTCTGTATCAAAGATGACAGCCGCAGGCCCAGGAAC... |
Task1_train_19597 | A mutation in TGM1 (transglutaminase 1), located on Chromosome 14, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Lamellar ichthyosis | AGGCTTGAAGGAGAGAAGTCGCTTGCCCAAGGGCATATAGCCAGTAAGTGCTAGAGCTGAACCCGTATCATTAGGATTCCAAAACTTCGCTTGTGTGTGTGTGTCTCTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGACAGAGAGAGAGAGAGACACACGGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAAACATGGCTCACTTCAGCCTCAACCTCTCCAGGCTCAGGTGATCCTCCCACCTTAGACTCCCAAGTAGCTGGGACAACAGGCGCACAGCACCAAACCTGGTTAATTTTTTAAAAATTT... | AGGCTTGAAGGAGAGAAGTCGCTTGCCCAAGGGCATATAGCCAGTAAGTGCTAGAGCTGAACCCGTATCATTAGGATTCCAAAACTTCGCTTGTGTGTGTGTGTCTCTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGACAGAGAGAGAGAGAGACACACGGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAAACATGGCTCACTTCAGCCTCAACCTCTCCAGGCTCAGGTGATCCTCCCACCTTAGACTCCCAAGTAGCTGGGACAACAGGCGCACAGCACCAAACCTGGTTAATTTTTTAAAAATTT... |
Task1_train_19598 | A variant was discovered on Chromosome 14, affecting TGM1 (transglutaminase 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Autosomal recessive congenital ichthyosis 1 | AGCTGGGCCGGGAGGTATTGCTAGCTGGCCCCAACCTGCTTGGTTGGGTCCTGACAGAACATACTTGTCCAGACAGAGAGGGAGCAAAGCTGGGAGCCAGGGCAGCCTGTGGGGAAGGCCAGAGTGGAAGCAGGGGTAGGGGGAGAGGCCAGACTCACCCAACGTTGAGGATCTTGGGCCTCTGTAACCCAGAGCCTTCGAGCCGGAAGACGACATTGGTGAGGGTGACGGGAAGGGGGTTCTTGAAGACAATCTGTACTTCACACTCCTGGCCAACCACTGCTGCTCCCAGTAACTGAGAGAAAAAGAGGCCCATCCCC... | AGCTGGGCCGGGAGGTATTGCTAGCTGGCCCCAACCTGCTTGGTTGGGTCCTGACAGAACATACTTGTCCAGACAGAGAGGGAGCAAAGCTGGGAGCCAGGGCAGCCTGTGGGGAAGGCCAGAGTGGAAGCAGGGGTAGGGGGAGAGGCCAGACTCACCCAACGTTGAGGATCTTGGGCCTCTGTAACCCAGAGCCTTCGAGCCGGAAGACGACATTGGTGAGGGTGACGGGAAGGGGGTTCTTGAAGACAATCTGTACTTCACACTCCTGGCCAACCACTGCTGCTCCCAGTAACTGAGAGAAAAAGAGGCCCATCCCC... |
Task1_train_19599 | A mutation found in TGM1 (transglutaminase 1) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not specified | AGCTGGGCCGGGAGGTATTGCTAGCTGGCCCCAACCTGCTTGGTTGGGTCCTGACAGAACATACTTGTCCAGACAGAGAGGGAGCAAAGCTGGGAGCCAGGGCAGCCTGTGGGGAAGGCCAGAGTGGAAGCAGGGGTAGGGGGAGAGGCCAGACTCACCCAACGTTGAGGATCTTGGGCCTCTGTAACCCAGAGCCTTCGAGCCGGAAGACGACATTGGTGAGGGTGACGGGAAGGGGGTTCTTGAAGACAATCTGTACTTCACACTCCTGGCCAACCACTGCTGCTCCCAGTAACTGAGAGAAAAAGAGGCCCATCCCC... | AGCTGGGCCGGGAGGTATTGCTAGCTGGCCCCAACCTGCTTGGTTGGGTCCTGACAGAACATACTTGTCCAGACAGAGAGGGAGCAAAGCTGGGAGCCAGGGCAGCCTGTGGGGAAGGCCAGAGTGGAAGCAGGGGTAGGGGGAGAGGCCAGACTCACCCAACGTTGAGGATCTTGGGCCTCTGTAACCCAGAGCCTTCGAGCCGGAAGACGACATTGGTGAGGGTGACGGGAAGGGGGTTCTTGAAGACAATCTGTACTTCACACTCCTGGCCAACCACTGCTGCTCCCAGTAACTGAGAGAAAAAGAGGCCCATCCCC... |
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