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_30300 | The gene GJB1 (gap junction protein beta 1) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Charcot-Marie-Tooth disease | TTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTG... | TTCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTG... |
Task1_train_30301 | This variant affects the gene GJB1 (gap junction protein beta 1) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Inborn genetic diseases | TCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGG... | TCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGG... |
Task1_train_30302 | A mutation on Chromosome X affecting GJB1 (gap junction protein beta 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | TCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGG... | TCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGG... |
Task1_train_30303 | Given this variant in gene GJB1 (gap junction protein beta 1) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Charcot-Marie-Tooth Neuropathy X | TCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGG... | TCTTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGG... |
Task1_train_30304 | Given this context: Chromosome X, gene GJB1 (gap junction protein beta 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Peripheral neuropathy | TTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTC... | TTAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTC... |
Task1_train_30305 | The variant affects gene GJB1 (gap junction protein beta 1), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | TAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCC... | TAGCCTGCCTAAGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCC... |
Task1_train_30306 | With a mutation on Chromosome X in gene GJB1 (gap junction protein beta 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | AGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGA... | AGGGATAGAGGAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGA... |
Task1_train_30307 | A variant found in Chromosome X affects GJB1 (gap junction protein beta 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Charcot-Marie-Tooth Neuropathy X | GAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGG... | GAGAATTTCCTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGG... |
Task1_train_30308 | Here is a variant affecting GJB1 (gap junction protein beta 1) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Charcot-Marie-Tooth Neuropathy X | CTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGAT... | CTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGAT... |
Task1_train_30309 | This mutation occurs in GJB1 (gap junction protein beta 1) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Charcot-Marie-Tooth Neuropathy X | CTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGAT... | CTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGAT... |
Task1_train_30310 | Given this context: Chromosome X, gene GJB1 (gap junction protein beta 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | CTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGAT... | CTCCCTAGAGCAACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGAT... |
Task1_train_30311 | A variant was discovered in gene GJB1 (gap junction protein beta 1), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | AACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCC... | AACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCC... |
Task1_train_30312 | Consider this mutation in GJB1 (gap junction protein beta 1) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | ACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCA... | ACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCA... |
Task1_train_30313 | A variant found in Chromosome X affects GJB1 (gap junction protein beta 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Charcot-Marie-Tooth Neuropathy X | ACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCA... | ACTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCA... |
Task1_train_30314 | The variant affects gene GJB1 (gap junction protein beta 1), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | CTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAG... | CTGGCAAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAG... |
Task1_train_30315 | A variant was discovered in gene GJB1 (gap junction protein beta 1), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | AAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGT... | AAGCTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGT... |
Task1_train_30316 | This variant affects the gene GJB1 (gap junction protein beta 1) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Charcot-Marie-Tooth Neuropathy X | CCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGG... | CCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGG... |
Task1_train_30317 | With a mutation on Chromosome X in gene GJB1 (gap junction protein beta 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; GJB1-related disorder | CTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGC... | CTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGC... |
Task1_train_30318 | A variant has been detected on Chromosome X in GJB1 (gap junction protein beta 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Charcot-Marie-Tooth Neuropathy X | CTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGC... | CTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGC... |
Task1_train_30319 | Given this context: Chromosome X, gene GJB1 (gap junction protein beta 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Inborn genetic diseases | AGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCA... | AGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCA... |
Task1_train_30320 | A mutation in GJB1 (gap junction protein beta 1), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Charcot-Marie-Tooth Neuropathy X | AGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCA... | AGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCA... |
Task1_train_30321 | An alteration has been detected in GJB1 (gap junction protein beta 1) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Charcot-Marie-Tooth Neuropathy X | TGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGA... | TGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGA... |
Task1_train_30322 | The gene GJB1 (gap junction protein beta 1) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Charcot-Marie-Tooth Neuropathy X | AATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTG... | AATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTG... |
Task1_train_30323 | This mutation occurs in GJB1 (gap junction protein beta 1) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | CAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCC... | CAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCC... |
Task1_train_30324 | Chromosome X houses a mutation in gene GJB1 (gap junction protein beta 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Charcot-Marie-Tooth Neuropathy X | CAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCC... | CAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCC... |
Task1_train_30325 | Here is a genetic alteration in GJB1 (gap junction protein beta 1) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | ATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTA... | ATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTA... |
Task1_train_30326 | An alteration has been detected in GJB1 (gap junction protein beta 1) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Charcot-Marie-Tooth Neuropathy X | CAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAAC... | CAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAAC... |
Task1_train_30327 | A genomic change on Chromosome X affects GJB1 (gap junction protein beta 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Charcot-Marie-Tooth Neuropathy X | GCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCC... | GCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCC... |
Task1_train_30328 | A variant has been detected on Chromosome X in GJB1 (gap junction protein beta 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Charcot-Marie-Tooth Neuropathy X | CATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCA... | CATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCA... |
Task1_train_30329 | Given this variant in gene GJB1 (gap junction protein beta 1) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Charcot-Marie-Tooth Neuropathy X | GGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGC... | GGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGC... |
Task1_train_30330 | This alteration in GJB1 (gap junction protein beta 1) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Charcot-Marie-Tooth Neuropathy X | GACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATT... | GACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATT... |
Task1_train_30331 | A variant was discovered in gene GJB1 (gap junction protein beta 1), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Charcot-Marie-Tooth Neuropathy X | GTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAA... | GTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAA... |
Task1_train_30332 | An alteration has been detected in GJB1 (gap junction protein beta 1) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Charcot-Marie-Tooth Neuropathy X | CCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGA... | CCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGA... |
Task1_train_30333 | Chromosome X houses a mutation in gene GJB1 (gap junction protein beta 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | CCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGA... | CCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGA... |
Task1_train_30334 | This genomic variant is located on Chromosome X, within the GJB1 (gap junction protein beta 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Charcot-Marie-Tooth Neuropathy X | TGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATC... | TGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATC... |
Task1_train_30335 | The gene GJB1 (gap junction protein beta 1) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | GAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCT... | GAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCT... |
Task1_train_30336 | The gene GJB1 (gap junction protein beta 1) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Charcot-Marie-Tooth Neuropathy X | AGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCT... | AGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCT... |
Task1_train_30337 | This is a variant in GJB1 (gap junction protein beta 1), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | GCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTT... | GCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTT... |
Task1_train_30338 | With a mutation on Chromosome X in gene GJB1 (gap junction protein beta 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Charcot-Marie-Tooth Neuropathy X | CCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTT... | CCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTT... |
Task1_train_30339 | Here is a mutation in GJB1 (gap junction protein beta 1) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Charcot-Marie-Tooth Neuropathy X | GGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTT... | GGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTT... |
Task1_train_30340 | A genetic alteration is present in GJB1 (gap junction protein beta 1) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Charcot-Marie-Tooth Neuropathy X | GCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTT... | GCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTT... |
Task1_train_30341 | The gene GJB1 (gap junction protein beta 1), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | GCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTT... | GCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTT... |
Task1_train_30342 | Here is a variant affecting GJB1 (gap junction protein beta 1) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Charcot-Marie-Tooth Neuropathy X | AGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGT... | AGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGT... |
Task1_train_30343 | This sequence variant lies in GJB1 (gap junction protein beta 1) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Charcot-Marie-Tooth Neuropathy X | AAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTG... | AAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTG... |
Task1_train_30344 | Given this context: Chromosome X, gene GJB1 (gap junction protein beta 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | AAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTG... | AAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTG... |
Task1_train_30345 | A mutation found in GJB1 (gap junction protein beta 1) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Charcot-Marie-Tooth disease | GCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCC... | GCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCC... |
Task1_train_30346 | A genetic alteration is present in GJB1 (gap junction protein beta 1) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | CGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGA... | CGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGA... |
Task1_train_30347 | A sequence alteration has been identified in GJB1 (gap junction protein beta 1) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | CAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCAT... | CAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCAT... |
Task1_train_30348 | A variant was discovered on Chromosome X, affecting GJB1 (gap junction protein beta 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Dejerine-Sottas disease | CAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCAT... | CAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCAT... |
Task1_train_30349 | This alteration in GJB1 (gap junction protein beta 1) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Charcot-Marie-Tooth Neuropathy X | CAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACC... | CAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACC... |
Task1_train_30350 | A change on Chromosome X affects gene GJB1 (gap junction protein beta 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Inborn genetic diseases | CAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACC... | CAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACC... |
Task1_train_30351 | With a mutation on Chromosome X in gene GJB1 (gap junction protein beta 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | CAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACC... | CAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACC... |
Task1_train_30352 | Located on Chromosome X, this mutation impacts GJB1 (gap junction protein beta 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Charcot-Marie-Tooth Neuropathy X | AAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCA... | AAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCA... |
Task1_train_30353 | Consider this mutation in GJB1 (gap junction protein beta 1) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | AGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGC... | AGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGC... |
Task1_train_30354 | Given this context: Chromosome X, gene GJB1 (gap junction protein beta 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Charcot-Marie-Tooth Neuropathy X | AGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGC... | AGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGC... |
Task1_train_30355 | This variant affects gene GJB1 (gap junction protein beta 1) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | TAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTG... | TAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTG... |
Task1_train_30356 | A mutation in GJB1 (gap junction protein beta 1), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Charcot-Marie-Tooth Neuropathy X | TAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTG... | TAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTG... |
Task1_train_30357 | Here is a variant affecting GJB1 (gap junction protein beta 1) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | AAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCT... | AAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCT... |
Task1_train_30358 | This variant impacts the gene GJB1 (gap junction protein beta 1) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Charcot-Marie-Tooth Neuropathy X | AGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCA... | AGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCA... |
Task1_train_30359 | Here is a mutation in GJB1 (gap junction protein beta 1) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Charcot-Marie-Tooth Neuropathy X | GGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAG... | GGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAG... |
Task1_train_30360 | With a mutation on Chromosome X in gene GJB1 (gap junction protein beta 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | AGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCT... | AGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCT... |
Task1_train_30361 | A genomic change on Chromosome X affects GJB1 (gap junction protein beta 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Charcot-Marie-Tooth Neuropathy X | TGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGC... | TGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGC... |
Task1_train_30362 | Gene GJB1 (gap junction protein beta 1), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | TGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGC... | TGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGC... |
Task1_train_30363 | Given this variant in gene GJB1 (gap junction protein beta 1) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | CCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCA... | CCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCA... |
Task1_train_30364 | This sequence change occurs on Chromosome X, altering GJB1 (gap junction protein beta 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Inborn genetic diseases | CCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCA... | CCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCA... |
Task1_train_30365 | Consider this mutation in GJB1 (gap junction protein beta 1) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Charcot-Marie-Tooth Neuropathy X | CCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCA... | CCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCA... |
Task1_train_30366 | This alteration occurs within gene GJB1 (gap junction protein beta 1) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | TCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCC... | TCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCC... |
Task1_train_30367 | A mutation in GJB1 (gap junction protein beta 1), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Inborn genetic diseases | TCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCC... | TCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCC... |
Task1_train_30368 | This mutation is located in gene GJB1 (gap junction protein beta 1) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Charcot-Marie-Tooth Neuropathy X | TCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCC... | TCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCC... |
Task1_train_30369 | A mutation found in GJB1 (gap junction protein beta 1) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | TTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTT... | TTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTT... |
Task1_train_30370 | This mutation is located in gene GJB1 (gap junction protein beta 1) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Charcot-Marie-Tooth Neuropathy X | TTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTT... | TTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTT... |
Task1_train_30371 | The variant affects gene GJB1 (gap junction protein beta 1), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | TTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAG... | TTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAG... |
Task1_train_30372 | A genomic change on Chromosome X affects GJB1 (gap junction protein beta 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Charcot-Marie-Tooth Neuropathy X | GACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACT... | GACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACT... |
Task1_train_30373 | A variant on Chromosome X in gene GJB1 (gap junction protein beta 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Charcot-Marie-Tooth Neuropathy X | GAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCT... | GAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCT... |
Task1_train_30374 | Mutation context: Chromosome X, Gene GJB1 (gap junction protein beta 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | GAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCT... | GAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCT... |
Task1_train_30375 | A mutation on Chromosome X affecting GJB1 (gap junction protein beta 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Inborn genetic diseases | CTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGC... | CTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGC... |
Task1_train_30376 | The variant affects gene GJB1 (gap junction protein beta 1), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Charcot-Marie-Tooth Neuropathy X | CTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGC... | CTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGC... |
Task1_train_30377 | Consider this mutation in GJB1 (gap junction protein beta 1) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Charcot-Marie-Tooth Neuropathy X | GCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAA... | GCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAA... |
Task1_train_30378 | Gene GJB1 (gap junction protein beta 1) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 1 | GCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAA... | GCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAA... |
Task1_train_30379 | Mutation context: Chromosome X, Gene NONO (non-POU domain containing octamer binding). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Syndromic X-linked intellectual disability 34 | CTCCAATCCTGAGCCCTAGCTAATTCATTGTGCCAGTGACATGTGTAGAGAAGAAGCCTGGTGGGGTATGATTTGATTAACACTGAACTTTGTTCTTTCTTCCAGATTTCCTCGTCCTGTGACTGTGGAGCCCATGGACCAGTTAGATGATGAAGAGGGACTTCCAGAGAAGCTGGTTATAAAAAACCAGCAATTTCACAAGTATGCAGTCTTGATAGATTTCCCTATTAGGTGTTTCCTTCTTAAGAAAGCTTATAAAGGGATATGTAAAAGAGGCAGGTCTTTGCTGCACATGTTCACTGGCAGCCATTATCTTGGTC... | CTCCAATCCTGAGCCCTAGCTAATTCATTGTGCCAGTGACATGTGTAGAGAAGAAGCCTGGTGGGGTATGATTTGATTAACACTGAACTTTGTTCTTTCTTCCAGATTTCCTCGTCCTGTGACTGTGGAGCCCATGGACCAGTTAGATGATGAAGAGGGACTTCCAGAGAAGCTGGTTATAAAAAACCAGCAATTTCACAAGTATGCAGTCTTGATAGATTTCCCTATTAGGTGTTTCCTTCTTAAGAAAGCTTATAAAGGGATATGTAAAAGAGGCAGGTCTTTGCTGCACATGTTCACTGGCAGCCATTATCTTGGTC... |
Task1_train_30380 | Gene TAF1 (TATA-box binding protein associated factor 1), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Intellectual disability, X-linked, syndromic 33 | GATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTTAGGTGATCTACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTGAAGTTAAAGATCTTTCTGAACTATAACAGTACTTTATAGTATATTTTTGTTCCCAAGTCCCTTTGTATTTAGAATTCTAGTTTCCTATTTTTCTCCTTAAATAGGTTTTTTTTTTTAAGGTATGCCATGATTAATGTAAAAAACTTTGAAAATACAGTATAGTGTTAAAGTCACTGGTAATCTATCTGGAGATTATCAACTGTT... | GATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTTAGGTGATCTACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTGAAGTTAAAGATCTTTCTGAACTATAACAGTACTTTATAGTATATTTTTGTTCCCAAGTCCCTTTGTATTTAGAATTCTAGTTTCCTATTTTTCTCCTTAAATAGGTTTTTTTTTTTAAGGTATGCCATGATTAATGTAAAAAACTTTGAAAATACAGTATAGTGTTAAAGTCACTGGTAATCTATCTGGAGATTATCAACTGTT... |
Task1_train_30381 | A change on Chromosome X affects gene TAF1 (TATA-box binding protein associated factor 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Intellectual disability, X-linked, syndromic 33 | CTCCTGGGCTCAAGCAGTCCTTCTATCTCAGCCTCCCGAGTAGCTGGGACAACAAGCACACACCACCACACCCAGCTAATAGTTTAAATTTTTTGTAGAAATGTCTCACGGCCGGGCGCGGTGGCTCATGCCTGTAGTCCCAACACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGACTCTACTAAAAATACAAAATGAGCCGGGCGTGGTGGCGTGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAG... | CTCCTGGGCTCAAGCAGTCCTTCTATCTCAGCCTCCCGAGTAGCTGGGACAACAAGCACACACCACCACACCCAGCTAATAGTTTAAATTTTTTGTAGAAATGTCTCACGGCCGGGCGCGGTGGCTCATGCCTGTAGTCCCAACACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGACTCTACTAAAAATACAAAATGAGCCGGGCGTGGTGGCGTGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAG... |
Task1_train_30382 | Here is a genetic alteration in TAF1 (TATA-box binding protein associated factor 1) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Intellectual disability, X-linked, syndromic 33 | TGAGACCAGCCTGGGCAACATGGTGAAACCCTGTTTCTACAGAAAATACAAAAATTAGATGTGGTGGCAGGCACCTATAATTCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCATTCCAGCCTGGGTGACAGGGTGAGACCCTGTCTCAAAAGAAGTTAGGAAGGGAATGTGTAATATGTGGAGTTTGAGGTCCCTTTGACACCCTTGAAGTATACATGTTAAAGAGGCAGTTGAAAACTTGGTTGTTGATACTGCGAGAGAGGATAAA... | TGAGACCAGCCTGGGCAACATGGTGAAACCCTGTTTCTACAGAAAATACAAAAATTAGATGTGGTGGCAGGCACCTATAATTCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCATTCCAGCCTGGGTGACAGGGTGAGACCCTGTCTCAAAAGAAGTTAGGAAGGGAATGTGTAATATGTGGAGTTTGAGGTCCCTTTGACACCCTTGAAGTATACATGTTAAAGAGGCAGTTGAAAACTTGGTTGTTGATACTGCGAGAGAGGATAAA... |
Task1_train_30383 | A variant on Chromosome X in gene TAF1 (TATA-box binding protein associated factor 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Intellectual disability, X-linked, syndromic 33 | CTCATTGCAACCTCCACCTCCTGGGTTCCAGCGATTCTTGCGCCTCAGCCTCCCAAGTAGCTGTGCTACCAGGCATGTGCTACCATGCCCAGCTAATTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCTCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCCCTGCAACCTCCACCTTCCCGTTTCAAGCGGCAATCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGACTTGAACTCCTGAC... | CTCATTGCAACCTCCACCTCCTGGGTTCCAGCGATTCTTGCGCCTCAGCCTCCCAAGTAGCTGTGCTACCAGGCATGTGCTACCATGCCCAGCTAATTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCTCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCCCTGCAACCTCCACCTTCCCGTTTCAAGCGGCAATCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGACTTGAACTCCTGAC... |
Task1_train_30384 | This mutation occurs in TAF1 (TATA-box binding protein associated factor 1) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Intellectual disability, X-linked, syndromic 33 | CCTAGCCTTTTAACATTTAAGATAGAATGTTGGGGCTGGGTTCGATGGCTCACACCTGTAATCCCAGCACTTTGGGATGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCCGCCTGACCAACATGGTGAGACCCTGTCTCTACTAAAAATACGAAAATTAGCTGTGCGTGGTGGTGGGCTTCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGACATTGCGCCATTGCACTCCAGCCTGGGTAACGAGCGAACTACATCTCAAAAAAA... | CCTAGCCTTTTAACATTTAAGATAGAATGTTGGGGCTGGGTTCGATGGCTCACACCTGTAATCCCAGCACTTTGGGATGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCCGCCTGACCAACATGGTGAGACCCTGTCTCTACTAAAAATACGAAAATTAGCTGTGCGTGGTGGTGGGCTTCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGACATTGCGCCATTGCACTCCAGCCTGGGTAACGAGCGAACTACATCTCAAAAAAA... |
Task1_train_30385 | A genetic alteration is present in OGT (O-linked N-acetylglucosamine (GlcNAc) transferase) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Intellectual disability, X-linked 106 | TCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCGGCCTCCTGAGTAGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTGAACTCCGGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGATGAAGTGTTCTTTATCAGTCTTTAATAAACATACAATTACTCAGTGTCTTAATCAAATACCTTTTCGGTGTGTGTGTTTTTTTTTGTTTTTGTTTTTTG... | TCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCGGCCTCCTGAGTAGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTGAACTCCGGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGATGAAGTGTTCTTTATCAGTCTTTAATAAACATACAATTACTCAGTGTCTTAATCAAATACCTTTTCGGTGTGTGTGTTTTTTTTTGTTTTTGTTTTTTG... |
Task1_train_30386 | This genomic variant is located on Chromosome X, within the OGT (O-linked N-acetylglucosamine (GlcNAc) transferase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Intellectual disability, X-linked 106 | TCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCGGCCTCCTGAGTAGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTGAACTCCGGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGATGAAGTGTTCTTTATCAGTCTTTAATAAACATACAATTACTCAGTGTCTTAATCAAATACCTTTTCGGTGTGTGTGTTTTTTTTTGTTTTTGTTTTTTG... | TCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCGGCCTCCTGAGTAGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTGAACTCCGGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGATGAAGTGTTCTTTATCAGTCTTTAATAAACATACAATTACTCAGTGTCTTAATCAAATACCTTTTCGGTGTGTGTGTTTTTTTTTGTTTTTGTTTTTTG... |
Task1_train_30387 | This genomic variant is located on Chromosome X, within the OGT (O-linked N-acetylglucosamine (GlcNAc) transferase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Intellectual disability, X-linked 106 | TGTATTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTGAACTCCGGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGATGAAGTGTTCTTTATCAGTCTTTAATAAACATACAATTACTCAGTGTCTTAATCAAATACCTTTTCGGTGTGTGTGTTTTTTTTTGTTTTTGTTTTTTGTTTTTGGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGTAACCTCTGCCTCTCGGGTTCAA... | TGTATTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTGAACTCCGGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGATGAAGTGTTCTTTATCAGTCTTTAATAAACATACAATTACTCAGTGTCTTAATCAAATACCTTTTCGGTGTGTGTGTTTTTTTTTGTTTTTGTTTTTTGTTTTTGGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGTAACCTCTGCCTCTCGGGTTCAA... |
Task1_train_30388 | A variant affecting Chromosome X, within the gene OGT (O-linked N-acetylglucosamine (GlcNAc) transferase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Intellectual disability, X-linked 106 | GACAACATGACAGCTATTTGGATGACACCGTGTAATGGTTAGTATTTCCTTGAAGTATTGTATCTTACTGTGTATACAGCTCTAATTGCATGTCTTAATAAGGTCTTGCTGAGCATGTAGTTTGTATGCATACAACTGAGGTATATATTTACCTTTTCAGTAAGAGTTTGCTGCCTCTTTTGCCACTATTTTTCAGAAGAGTTAGACTGGTTAATTGTGAATAAAATAGGGCCAATCATTAGAAGTGTTCAGTTTAATGAAATTGGAGCAGGCCCAATATTTAATTTTTCTCTTCAGGACCCATTTTGCTCATGAGAACA... | GACAACATGACAGCTATTTGGATGACACCGTGTAATGGTTAGTATTTCCTTGAAGTATTGTATCTTACTGTGTATACAGCTCTAATTGCATGTCTTAATAAGGTCTTGCTGAGCATGTAGTTTGTATGCATACAACTGAGGTATATATTTACCTTTTCAGTAAGAGTTTGCTGCCTCTTTTGCCACTATTTTTCAGAAGAGTTAGACTGGTTAATTGTGAATAAAATAGGGCCAATCATTAGAAGTGTTCAGTTTAATGAAATTGGAGCAGGCCCAATATTTAATTTTTCTCTTCAGGACCCATTTTGCTCATGAGAACA... |
Task1_train_30389 | This mutation occurs in OGT (O-linked N-acetylglucosamine (GlcNAc) transferase) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Intellectual disability, X-linked 106 | TCATTTGTGTTAATCAGCATGGCTTTTTCCGAGGTTGCAAATGAAACTGAAATGTGTTATGCTTGTGCTTGGACATACAACTTTTCTGGAGATTGAGCCAGCACTTGTGACAGAAGATACTTAATAAATATTGACAAAATGGTGACTTGGGAGAAGAATAAATAGGTCTTTTAAAGAAAATAGGGCCGGGTGTGGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGCAGATCATGAGGTCAGGAGATGAGACCATCTTGACTAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAAATTAGCTG... | TCATTTGTGTTAATCAGCATGGCTTTTTCCGAGGTTGCAAATGAAACTGAAATGTGTTATGCTTGTGCTTGGACATACAACTTTTCTGGAGATTGAGCCAGCACTTGTGACAGAAGATACTTAATAAATATTGACAAAATGGTGACTTGGGAGAAGAATAAATAGGTCTTTTAAAGAAAATAGGGCCGGGTGTGGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGCAGATCATGAGGTCAGGAGATGAGACCATCTTGACTAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAAATTAGCTG... |
Task1_train_30390 | Gene HDAC8 (histone deacetylase 8) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Cornelia de Lange syndrome 5 | AAGACTGTCATTTCAATTTTATTCTTTGTTCTTTCTTGCATGACTCACATCTCTTAAACCAGAAGGATATGACAGAAGGAATTCACAAAAGGTTTGGACAAATTTATGAATGACATAGTCATAAATGTCTGGGTATAAGAAGTGAGCAGCATGCAAAGAAGAAGGAGATAACTTGCATTTTTTTTTCTTTTTTTTGAGACGGAGTGTCACACTGTCACCTAGGCTGGAGTGCAATGGCATGATCTTGGCTCTCTGCAACCTCCACCTTCCGGGTTCAAGCAATTCGCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAG... | AAGACTGTCATTTCAATTTTATTCTTTGTTCTTTCTTGCATGACTCACATCTCTTAAACCAGAAGGATATGACAGAAGGAATTCACAAAAGGTTTGGACAAATTTATGAATGACATAGTCATAAATGTCTGGGTATAAGAAGTGAGCAGCATGCAAAGAAGAAGGAGATAACTTGCATTTTTTTTTCTTTTTTTTGAGACGGAGTGTCACACTGTCACCTAGGCTGGAGTGCAATGGCATGATCTTGGCTCTCTGCAACCTCCACCTTCCGGGTTCAAGCAATTCGCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAG... |
Task1_train_30391 | This gene mutation involves HDAC8 (histone deacetylase 8) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Cornelia de Lange syndrome 5 | CACATCTCTTAAACCAGAAGGATATGACAGAAGGAATTCACAAAAGGTTTGGACAAATTTATGAATGACATAGTCATAAATGTCTGGGTATAAGAAGTGAGCAGCATGCAAAGAAGAAGGAGATAACTTGCATTTTTTTTTCTTTTTTTTGAGACGGAGTGTCACACTGTCACCTAGGCTGGAGTGCAATGGCATGATCTTGGCTCTCTGCAACCTCCACCTTCCGGGTTCAAGCAATTCGCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCAGCTAATTTTTTGTATCTTTAGTAGAG... | CACATCTCTTAAACCAGAAGGATATGACAGAAGGAATTCACAAAAGGTTTGGACAAATTTATGAATGACATAGTCATAAATGTCTGGGTATAAGAAGTGAGCAGCATGCAAAGAAGAAGGAGATAACTTGCATTTTTTTTTCTTTTTTTTGAGACGGAGTGTCACACTGTCACCTAGGCTGGAGTGCAATGGCATGATCTTGGCTCTCTGCAACCTCCACCTTCCGGGTTCAAGCAATTCGCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCAGCTAATTTTTTGTATCTTTAGTAGAG... |
Task1_train_30392 | This alteration in HDAC8 (histone deacetylase 8) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Inborn genetic diseases | TGACAGAAGGAATTCACAAAAGGTTTGGACAAATTTATGAATGACATAGTCATAAATGTCTGGGTATAAGAAGTGAGCAGCATGCAAAGAAGAAGGAGATAACTTGCATTTTTTTTTCTTTTTTTTGAGACGGAGTGTCACACTGTCACCTAGGCTGGAGTGCAATGGCATGATCTTGGCTCTCTGCAACCTCCACCTTCCGGGTTCAAGCAATTCGCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCAGCTAATTTTTTGTATCTTTAGTAGAGATGGGCTTTCACCATGTTGGCCAG... | TGACAGAAGGAATTCACAAAAGGTTTGGACAAATTTATGAATGACATAGTCATAAATGTCTGGGTATAAGAAGTGAGCAGCATGCAAAGAAGAAGGAGATAACTTGCATTTTTTTTTCTTTTTTTTGAGACGGAGTGTCACACTGTCACCTAGGCTGGAGTGCAATGGCATGATCTTGGCTCTCTGCAACCTCCACCTTCCGGGTTCAAGCAATTCGCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCAGCTAATTTTTTGTATCTTTAGTAGAGATGGGCTTTCACCATGTTGGCCAG... |
Task1_train_30393 | A mutation on Chromosome X affecting HDAC8 (histone deacetylase 8) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Cornelia de Lange syndrome 5 | TGACAGAAGGAATTCACAAAAGGTTTGGACAAATTTATGAATGACATAGTCATAAATGTCTGGGTATAAGAAGTGAGCAGCATGCAAAGAAGAAGGAGATAACTTGCATTTTTTTTTCTTTTTTTTGAGACGGAGTGTCACACTGTCACCTAGGCTGGAGTGCAATGGCATGATCTTGGCTCTCTGCAACCTCCACCTTCCGGGTTCAAGCAATTCGCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCAGCTAATTTTTTGTATCTTTAGTAGAGATGGGCTTTCACCATGTTGGCCAG... | TGACAGAAGGAATTCACAAAAGGTTTGGACAAATTTATGAATGACATAGTCATAAATGTCTGGGTATAAGAAGTGAGCAGCATGCAAAGAAGAAGGAGATAACTTGCATTTTTTTTTCTTTTTTTTGAGACGGAGTGTCACACTGTCACCTAGGCTGGAGTGCAATGGCATGATCTTGGCTCTCTGCAACCTCCACCTTCCGGGTTCAAGCAATTCGCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCAGCTAATTTTTTGTATCTTTAGTAGAGATGGGCTTTCACCATGTTGGCCAG... |
Task1_train_30394 | Here is a mutation in HDAC8 (histone deacetylase 8) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Cornelia de Lange syndrome 5 | AAAACTAAATTAGGAAAAAAGGAGGCAAAGTCAGGGAGGTGGGAATAATGAGACATGTCTGGGAATACTGAGCCATGTCATGAATAGTGAGACATGTCATGAATAGTTAGACATGCTCATTGAGTAGTGTAGCCTGGACAGCAAGTAATGAGAGATAAGGGTGGAAAGATGAGGTGAGACCTATTCAAGGTAGGCCTTGAAAGACTAGGTAAAGAGTGTGGACTACCTTGAAGACCACTGTTTTTCAAAGTGTGGCCTGTAGAACAGCTGAGGTATTAAAACGTAGTTTCTTTGGTTCCATGCCAGACCTACTAAATCTG... | AAAACTAAATTAGGAAAAAAGGAGGCAAAGTCAGGGAGGTGGGAATAATGAGACATGTCTGGGAATACTGAGCCATGTCATGAATAGTGAGACATGTCATGAATAGTTAGACATGCTCATTGAGTAGTGTAGCCTGGACAGCAAGTAATGAGAGATAAGGGTGGAAAGATGAGGTGAGACCTATTCAAGGTAGGCCTTGAAAGACTAGGTAAAGAGTGTGGACTACCTTGAAGACCACTGTTTTTCAAAGTGTGGCCTGTAGAACAGCTGAGGTATTAAAACGTAGTTTCTTTGGTTCCATGCCAGACCTACTAAATCTG... |
Task1_train_30395 | The gene HDAC8 (histone deacetylase 8) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Cornelia de Lange syndrome 5 | TGAGCCATGTCATGAATAGTGAGACATGTCATGAATAGTTAGACATGCTCATTGAGTAGTGTAGCCTGGACAGCAAGTAATGAGAGATAAGGGTGGAAAGATGAGGTGAGACCTATTCAAGGTAGGCCTTGAAAGACTAGGTAAAGAGTGTGGACTACCTTGAAGACCACTGTTTTTCAAAGTGTGGCCTGTAGAACAGCTGAGGTATTAAAACGTAGTTTCTTTGGTTCCATGCCAGACCTACTAAATCTGAATATCTGGTGGATATGGCCCAGCAATCTGCATTTTAAAACAAACTTCTCCAGGTCATCCTGATGCAC... | TGAGCCATGTCATGAATAGTGAGACATGTCATGAATAGTTAGACATGCTCATTGAGTAGTGTAGCCTGGACAGCAAGTAATGAGAGATAAGGGTGGAAAGATGAGGTGAGACCTATTCAAGGTAGGCCTTGAAAGACTAGGTAAAGAGTGTGGACTACCTTGAAGACCACTGTTTTTCAAAGTGTGGCCTGTAGAACAGCTGAGGTATTAAAACGTAGTTTCTTTGGTTCCATGCCAGACCTACTAAATCTGAATATCTGGTGGATATGGCCCAGCAATCTGCATTTTAAAACAAACTTCTCCAGGTCATCCTGATGCAC... |
Task1_train_30396 | The gene HDAC8 (histone deacetylase 8) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Cornelia de Lange syndrome 5 | GGATCACTTGAGGCCAGGAATTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAAATACAAAAATTATCCAAGCATGGTGGCACGTGCCTGTAGTCCTAGCTACCTAGAAGGCTGAGGTGGGCAGATCCCTTGAACCCAGGAGTTCGAGACTGCAGTGAGCTATGATTGCACCACTGCACTCCAGCCTTGGTGACAGAGAGAGACTCTGTCTCGAAAAAAACAAAACAAGAAAGAAAGAAAGAGGCCAGGTGTGGTGGCACATACCTGTAATGCCAGCACCTTGGGAGGCTGAGGATGGAGGATCCCT... | GGATCACTTGAGGCCAGGAATTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAAATACAAAAATTATCCAAGCATGGTGGCACGTGCCTGTAGTCCTAGCTACCTAGAAGGCTGAGGTGGGCAGATCCCTTGAACCCAGGAGTTCGAGACTGCAGTGAGCTATGATTGCACCACTGCACTCCAGCCTTGGTGACAGAGAGAGACTCTGTCTCGAAAAAAACAAAACAAGAAAGAAAGAAAGAGGCCAGGTGTGGTGGCACATACCTGTAATGCCAGCACCTTGGGAGGCTGAGGATGGAGGATCCCT... |
Task1_train_30397 | A variant was discovered in gene HDAC8 (histone deacetylase 8), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cornelia de Lange syndrome 5 | GGATCACTTGAGGCCAGGAATTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAAATACAAAAATTATCCAAGCATGGTGGCACGTGCCTGTAGTCCTAGCTACCTAGAAGGCTGAGGTGGGCAGATCCCTTGAACCCAGGAGTTCGAGACTGCAGTGAGCTATGATTGCACCACTGCACTCCAGCCTTGGTGACAGAGAGAGACTCTGTCTCGAAAAAAACAAAACAAGAAAGAAAGAAAGAGGCCAGGTGTGGTGGCACATACCTGTAATGCCAGCACCTTGGGAGGCTGAGGATGGAGGATCCCT... | GGATCACTTGAGGCCAGGAATTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAAATACAAAAATTATCCAAGCATGGTGGCACGTGCCTGTAGTCCTAGCTACCTAGAAGGCTGAGGTGGGCAGATCCCTTGAACCCAGGAGTTCGAGACTGCAGTGAGCTATGATTGCACCACTGCACTCCAGCCTTGGTGACAGAGAGAGACTCTGTCTCGAAAAAAACAAAACAAGAAAGAAAGAAAGAGGCCAGGTGTGGTGGCACATACCTGTAATGCCAGCACCTTGGGAGGCTGAGGATGGAGGATCCCT... |
Task1_train_30398 | This variant lies on Chromosome X and affects the gene HDAC8 (histone deacetylase 8). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | CTGAAGGAGGGCCCAGCAATCCTTCTCAGACAGACTACTGCAGTTTGACATGTTAACATAAAACTCTAGAAGGTGGCCAGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACGTGGTGAAACCCTGTCTCTACAAAAATACAAAAATTAGCTGGGCATGATGGCGGGTGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACTGGGAAGGAGGAGGTTGCAGTAAGCTGAGATCGCGCAACTGC... | CTGAAGGAGGGCCCAGCAATCCTTCTCAGACAGACTACTGCAGTTTGACATGTTAACATAAAACTCTAGAAGGTGGCCAGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACGTGGTGAAACCCTGTCTCTACAAAAATACAAAAATTAGCTGGGCATGATGGCGGGTGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACTGGGAAGGAGGAGGTTGCAGTAAGCTGAGATCGCGCAACTGC... |
Task1_train_30399 | Here is a genetic alteration in HDAC8 (histone deacetylase 8) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Cornelia de Lange syndrome 5 | ATCAAAAAAAAAAAAAAAAGGCTTAAAAATTCCCTTTAAAAGGTACAAAATGATTTTGTTAATAATAAGGATAAAATCTGAAAGCCTATTATTACACTACCTTCTGGGAGATAAATGAAGCATAGCACACTAGTTGGTATGAGCACTCACCTATTTGGCCAGAAATTGTCATAAGTAATCCTATATGTGGCAGGGTTATATTTGCTCTTATAACGACATCAAATACAGAAATGGCAATAAACAGCAAGTTCATGTTTTTGGAAGAAACAGTTAGCTCTCTCTTGAGTTCTGGCGCAGTCTTGGCAGTTTTCTTTGGTCTT... | ATCAAAAAAAAAAAAAAAAGGCTTAAAAATTCCCTTTAAAAGGTACAAAATGATTTTGTTAATAATAAGGATAAAATCTGAAAGCCTATTATTACACTACCTTCTGGGAGATAAATGAAGCATAGCACACTAGTTGGTATGAGCACTCACCTATTTGGCCAGAAATTGTCATAAGTAATCCTATATGTGGCAGGGTTATATTTGCTCTTATAACGACATCAAATACAGAAATGGCAATAAACAGCAAGTTCATGTTTTTGGAAGAAACAGTTAGCTCTCTCTTGAGTTCTGGCGCAGTCTTGGCAGTTTTCTTTGGTCTT... |
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