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_9700 | Gene GLRA1 (glycine receptor alpha 1) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | TTCCATCCTTCCTTCCTTCCTTTCTTCCTTTCGTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTCTGTCCTCTCTCTCTCTTTCTTTCTTTTCTTTCTGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATTTCAGCTCATTGCAACCTCGGCCTGCCAGGTTCAAGCGATTCTCC... | TTCCATCCTTCCTTCCTTCCTTTCTTCCTTTCGTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTCTGTCCTCTCTCTCTCTTTCTTTCTTTTCTTTCTGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATTTCAGCTCATTGCAACCTCGGCCTGCCAGGTTCAAGCGATTCTCC... |
Task1_train_9701 | This sequence change occurs on Chromosome 5, altering GLRA1 (glycine receptor alpha 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hereditary hyperekplexia | CCTTCCTTTCTTCCTTTCGTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTCTGTCCTCTCTCTCTCTTTCTTTCTTTTCTTTCTGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATTTCAGCTCATTGCAACCTCGGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCAC... | CCTTCCTTTCTTCCTTTCGTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTCTGTCCTCTCTCTCTCTTTCTTTCTTTTCTTTCTGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATTTCAGCTCATTGCAACCTCGGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCAC... |
Task1_train_9702 | A variant found in Chromosome 5 affects GLRA1 (glycine receptor alpha 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hyperekplexia 1 | CCTTCCTTTCTTCCTTTCGTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTCTGTCCTCTCTCTCTCTTTCTTTCTTTTCTTTCTGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATTTCAGCTCATTGCAACCTCGGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCAC... | CCTTCCTTTCTTCCTTTCGTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTCTGTCCTCTCTCTCTCTTTCTTTCTTTTCTTTCTGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATTTCAGCTCATTGCAACCTCGGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCAC... |
Task1_train_9703 | A variant has been detected on Chromosome 5 in GLRA1 (glycine receptor alpha 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Inborn genetic diseases | CCTTCCTTTCTTCCTTTCGTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTCTGTCCTCTCTCTCTCTTTCTTTCTTTTCTTTCTGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATTTCAGCTCATTGCAACCTCGGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCAC... | CCTTCCTTTCTTCCTTTCGTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTCTGTCCTCTCTCTCTCTTTCTTTCTTTTCTTTCTGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATTTCAGCTCATTGCAACCTCGGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCAC... |
Task1_train_9704 | The gene GLRA1 (glycine receptor alpha 1), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hyperekplexia 1 | CCTTTCTTCCTTTCGTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTCTGTCCTCTCTCTCTCTTTCTTTCTTTTCTTTCTGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATTTCAGCTCATTGCAACCTCGGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCACGAGT... | CCTTTCTTCCTTTCGTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTCTGTCCTCTCTCTCTCTTTCTTTCTTTTCTTTCTGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATTTCAGCTCATTGCAACCTCGGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCACGAGT... |
Task1_train_9705 | The following genetic variant occurs in GLRA1 (glycine receptor alpha 1) on Chromosome 5. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hyperekplexia 1 | CCTTTCGTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTCTGTCCTCTCTCTCTCTTTCTTTCTTTTCTTTCTGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATTTCAGCTCATTGCAACCTCGGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCACGAGTAGCTAGGA... | CCTTTCGTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTCTGTCCTCTCTCTCTCTTTCTTTCTTTTCTTTCTGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATTTCAGCTCATTGCAACCTCGGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCACGAGTAGCTAGGA... |
Task1_train_9706 | The gene GLRA1 (glycine receptor alpha 1) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hyperekplexia 1 | TTTCGTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTCTGTCCTCTCTCTCTCTTTCTTTCTTTTCTTTCTGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATTTCAGCTCATTGCAACCTCGGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCACGAGTAGCTAGGATT... | TTTCGTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTCTGTCCTCTCTCTCTCTTTCTTTCTTTTCTTTCTGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATTTCAGCTCATTGCAACCTCGGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCACGAGTAGCTAGGATT... |
Task1_train_9707 | This is a variant in GLRA1 (glycine receptor alpha 1), located on Chromosome 5. Is this mutation a likely cause of disease or not? | Pathogenic; GLRA1-related disorder | TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTCTGTCCTCTCTCTCTCTTTCTTTCTTTTCTTTCTGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATTTCAGCTCATTGCAACCTCGGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCACGAGTAGCTAGGATTACAGGTGTGTGTGACTACGC... | TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTCTGTCCTCTCTCTCTCTTTCTTTCTTTTCTTTCTGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATTTCAGCTCATTGCAACCTCGGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCACGAGTAGCTAGGATTACAGGTGTGTGTGACTACGC... |
Task1_train_9708 | Given this context: Chromosome 5, gene GLRA1 (glycine receptor alpha 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hyperekplexia 1 | TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTCTGTCCTCTCTCTCTCTTTCTTTCTTTTCTTTCTGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATTTCAGCTCATTGCAACCTCGGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCACGAGTAGCTAGGATTACAGGTGTGTGTGACTACGC... | TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTCTGTCCTCTCTCTCTCTTTCTTTCTTTTCTTTCTGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATTTCAGCTCATTGCAACCTCGGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCACGAGTAGCTAGGATTACAGGTGTGTGTGACTACGC... |
Task1_train_9709 | Mutation context: Chromosome 5, Gene GLRA1 (glycine receptor alpha 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hyperekplexia 1 | TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTCTGTCCTCTCTCTCTCTTTCTTTCTTTTCTTTCTGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATTTCAGCTCATTGCAACCTCGGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCACGAGTAGCTAGGATTACAGGTGTGTGTGACTACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGA... | TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTCTGTCCTCTCTCTCTCTTTCTTTCTTTTCTTTCTGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATTTCAGCTCATTGCAACCTCGGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCACGAGTAGCTAGGATTACAGGTGTGTGTGACTACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGA... |
Task1_train_9710 | A change on Chromosome 5 affects gene GLRA1 (glycine receptor alpha 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hyperekplexia 1 | TCCTTTCCTTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTCTGTCCTCTCTCTCTCTTTCTTTCTTTTCTTTCTGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATTTCAGCTCATTGCAACCTCGGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCACGAGTAGCTAGGATTACAGGTGTGTGTGACTACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTT... | TCCTTTCCTTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTCTGTCCTCTCTCTCTCTTTCTTTCTTTTCTTTCTGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATTTCAGCTCATTGCAACCTCGGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCACGAGTAGCTAGGATTACAGGTGTGTGTGACTACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTT... |
Task1_train_9711 | A variant affecting Chromosome 5, within the gene GLRA1 (glycine receptor alpha 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hyperekplexia 1 | TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTCTGTCCTCTCTCTCTCTTTCTTTCTTTTCTTTCTGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATTTCAGCTCATTGCAACCTCGGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCACGAGTAGCTAGGATTACAGGTGTGTGTGACTACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCAGGCTGGTCT... | TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTCTGTCCTCTCTCTCTCTTTCTTTCTTTTCTTTCTGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATTTCAGCTCATTGCAACCTCGGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCACGAGTAGCTAGGATTACAGGTGTGTGTGACTACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCAGGCTGGTCT... |
Task1_train_9712 | The gene GLRA1 (glycine receptor alpha 1), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hyperekplexia 1 | TTCCTTCCTTCCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTCTGTCCTCTCTCTCTCTTTCTTTCTTTTCTTTCTGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATTTCAGCTCATTGCAACCTCGGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCACGAGTAGCTAGGATTACAGGTGTGTGTGACTACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCC... | TTCCTTCCTTCCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTCTGTCCTCTCTCTCTCTTTCTTTCTTTTCTTTCTGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATTTCAGCTCATTGCAACCTCGGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCACGAGTAGCTAGGATTACAGGTGTGTGTGACTACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCC... |
Task1_train_9713 | This variant affects gene GLRA1 (glycine receptor alpha 1) located on Chromosome 5. Evaluate its biological effect and specify any disease association. | Pathogenic; Hereditary hyperekplexia | CTTTTTTTCTTTCTTTCTTTCTGTCCTCTCTCTCTCTTTCTTTCTTTTCTTTCTGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATTTCAGCTCATTGCAACCTCGGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCACGAGTAGCTAGGATTACAGGTGTGTGTGACTACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCAACTGCCTTGGCCTCCCAGAGTCCTGGGATTACAGGCATG... | CTTTTTTTCTTTCTTTCTTTCTGTCCTCTCTCTCTCTTTCTTTCTTTTCTTTCTGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATTTCAGCTCATTGCAACCTCGGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCACGAGTAGCTAGGATTACAGGTGTGTGTGACTACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCAACTGCCTTGGCCTCCCAGAGTCCTGGGATTACAGGCATG... |
Task1_train_9714 | This alteration in GLRA1 (glycine receptor alpha 1) on Chromosome 5 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hereditary hyperekplexia | GAGGGATAGGTTGAGAGTCATCTAAAGTCACACAGCAAGCTGATACATCAGCCAGGATTCAAAACCATGTGTCCTGGCCTTTGGATTCTGAGTCCCATGGTGGGGTTGACTCAGGTGTTTGCTGGCAGCACTGCTCTCCTGCAAAGCCAACCCCAATACCCTAAGATACCTAATTGGTGGTGTTCTAGTGGACCTGAACTGGCACTTTGGCTGCATGTGATGAGGTACACAGCCCTTTGTGAACTTCCTTCCTCCAGCTCACACCCACAGCTCTGGATGTGGGCCCCTTTAAGCACAAGGTTGAAGCAAAAGGGGAAAAA... | GAGGGATAGGTTGAGAGTCATCTAAAGTCACACAGCAAGCTGATACATCAGCCAGGATTCAAAACCATGTGTCCTGGCCTTTGGATTCTGAGTCCCATGGTGGGGTTGACTCAGGTGTTTGCTGGCAGCACTGCTCTCCTGCAAAGCCAACCCCAATACCCTAAGATACCTAATTGGTGGTGTTCTAGTGGACCTGAACTGGCACTTTGGCTGCATGTGATGAGGTACACAGCCCTTTGTGAACTTCCTTCCTCCAGCTCACACCCACAGCTCTGGATGTGGGCCCCTTTAAGCACAAGGTTGAAGCAAAAGGGGAAAAA... |
Task1_train_9715 | The gene GLRA1 (glycine receptor alpha 1), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hereditary hyperekplexia | TCTAAAGTCACACAGCAAGCTGATACATCAGCCAGGATTCAAAACCATGTGTCCTGGCCTTTGGATTCTGAGTCCCATGGTGGGGTTGACTCAGGTGTTTGCTGGCAGCACTGCTCTCCTGCAAAGCCAACCCCAATACCCTAAGATACCTAATTGGTGGTGTTCTAGTGGACCTGAACTGGCACTTTGGCTGCATGTGATGAGGTACACAGCCCTTTGTGAACTTCCTTCCTCCAGCTCACACCCACAGCTCTGGATGTGGGCCCCTTTAAGCACAAGGTTGAAGCAAAAGGGGAAAAATGGAAGGGAGAGGCTGAGGA... | TCTAAAGTCACACAGCAAGCTGATACATCAGCCAGGATTCAAAACCATGTGTCCTGGCCTTTGGATTCTGAGTCCCATGGTGGGGTTGACTCAGGTGTTTGCTGGCAGCACTGCTCTCCTGCAAAGCCAACCCCAATACCCTAAGATACCTAATTGGTGGTGTTCTAGTGGACCTGAACTGGCACTTTGGCTGCATGTGATGAGGTACACAGCCCTTTGTGAACTTCCTTCCTCCAGCTCACACCCACAGCTCTGGATGTGGGCCCCTTTAAGCACAAGGTTGAAGCAAAAGGGGAAAAATGGAAGGGAGAGGCTGAGGA... |
Task1_train_9716 | A mutation on Chromosome 5 affecting GLRA1 (glycine receptor alpha 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hereditary hyperekplexia | TGTCCTCAAATAACCAGTTCCTTACAGAACCAGGTGGTCCACTCCCTGACTTGGCTTGATAACCATTTACCATTGAGGAAAAAGAGTGGAAGTGTCAACACTCACTGTACAGATTATGATTAATACAAATGTCAATATGCTTCTGATCTCAGAGGAGGGGAAGAAAAGCAGAGGGGCTCATTAAGAGTGCTTGTAAGACATCCATTCAAAGGTGAAAAAAACTTGGCTATTTATTTGACCTGGATATCCAGTGAAAAGCACCCATGTTTGTTCCTAGCTAACAAGTGGGACCATCTCCATTTGGAGATAAGAGGCCTGTT... | TGTCCTCAAATAACCAGTTCCTTACAGAACCAGGTGGTCCACTCCCTGACTTGGCTTGATAACCATTTACCATTGAGGAAAAAGAGTGGAAGTGTCAACACTCACTGTACAGATTATGATTAATACAAATGTCAATATGCTTCTGATCTCAGAGGAGGGGAAGAAAAGCAGAGGGGCTCATTAAGAGTGCTTGTAAGACATCCATTCAAAGGTGAAAAAAACTTGGCTATTTATTTGACCTGGATATCCAGTGAAAAGCACCCATGTTTGTTCCTAGCTAACAAGTGGGACCATCTCCATTTGGAGATAAGAGGCCTGTT... |
Task1_train_9717 | A genomic change on Chromosome 5 affects GEMIN5 (gem nuclear organelle associated protein 5). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | CATTTCCAAAAACTCTTGTCATTTTGTAAAACTGAAATCTTATACCCATTAAACATTAACTTCTCATTCTGCTTCCCTTAGCCCCTGTCAACATTATTCTACTTTCTGTCTCTATAAATTTAACTATTTTGAGTAGTTCATATAAGTGGAGTCATATAGTATATGTCTTTTTGTGACTGGCTTATTTCACTCAGCATGATGTCCTCCCTTCGTAAGGCTGAATGACATTCCATTGTATGGATATGGCACATTTTGCTTATCCATTCATCTGTCAGTGGATACTTAGGTTGCTCCCGTGTTTTGGGTATTATGAATAATGC... | CATTTCCAAAAACTCTTGTCATTTTGTAAAACTGAAATCTTATACCCATTAAACATTAACTTCTCATTCTGCTTCCCTTAGCCCCTGTCAACATTATTCTACTTTCTGTCTCTATAAATTTAACTATTTTGAGTAGTTCATATAAGTGGAGTCATATAGTATATGTCTTTTTGTGACTGGCTTATTTCACTCAGCATGATGTCCTCCCTTCGTAAGGCTGAATGACATTCCATTGTATGGATATGGCACATTTTGCTTATCCATTCATCTGTCAGTGGATACTTAGGTTGCTCCCGTGTTTTGGGTATTATGAATAATGC... |
Task1_train_9718 | Here is a mutation in GEMIN5 (gem nuclear organelle associated protein 5) on Chromosome 5. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | ACAACACAGTTTGCATATCCATTCATCAGTTGATGGACATTTGGGTTGTTTCTAGTTTTTGGCTACTGTGCACTAAGCTGCTGTAAACATTTGTGTACAAGTCTTTGTGTGGCCATCTGATTTCATTGTTTTAGTGGAATATCTAGGTAGCAGAACTGCTGAGACATGGGGCATGTGCATGTTTAACTTTATAAGAAACTGCCTGGCCAGGCGTGATGGCTCACACTTGTAATCACAGCACTTTGGGAGGCCGAGGCAGGTGGATCACATGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTC... | ACAACACAGTTTGCATATCCATTCATCAGTTGATGGACATTTGGGTTGTTTCTAGTTTTTGGCTACTGTGCACTAAGCTGCTGTAAACATTTGTGTACAAGTCTTTGTGTGGCCATCTGATTTCATTGTTTTAGTGGAATATCTAGGTAGCAGAACTGCTGAGACATGGGGCATGTGCATGTTTAACTTTATAAGAAACTGCCTGGCCAGGCGTGATGGCTCACACTTGTAATCACAGCACTTTGGGAGGCCGAGGCAGGTGGATCACATGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTC... |
Task1_train_9719 | A genomic change on Chromosome 5 affects GEMIN5 (gem nuclear organelle associated protein 5). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | GGTCCCTTTTGGGGGAAATCTATCCTTAGAGCTCAAGAAACCATTTTTATAACACAGAATCCCAACTGTAGCACTACCCACAATGATTTAAGCCACACACAGACCAGCCACTTAAGCCTTGTAGCCTAGTTTGAGGAAAAGAAGGGCTGGGCTCATCAGGTTCTTTCTCCCTGACCAAACTTTGGACTCAGGAATAAAAGCATAATGGGCCAAAGGTGCTGGAATAGACAAGCTTTGCAGATCCAAGAGCTGGGACAGGCATTAGGAGCCATGTCCAAATAGGTTTAATAGAGGAAGCTGGCTGGGAGAGAAGAAAACAG... | GGTCCCTTTTGGGGGAAATCTATCCTTAGAGCTCAAGAAACCATTTTTATAACACAGAATCCCAACTGTAGCACTACCCACAATGATTTAAGCCACACACAGACCAGCCACTTAAGCCTTGTAGCCTAGTTTGAGGAAAAGAAGGGCTGGGCTCATCAGGTTCTTTCTCCCTGACCAAACTTTGGACTCAGGAATAAAAGCATAATGGGCCAAAGGTGCTGGAATAGACAAGCTTTGCAGATCCAAGAGCTGGGACAGGCATTAGGAGCCATGTCCAAATAGGTTTAATAGAGGAAGCTGGCTGGGAGAGAAGAAAACAG... |
Task1_train_9720 | A change on Chromosome 5 affects gene GEMIN5 (gem nuclear organelle associated protein 5). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | TTCCCTAAAGGCAAGAACAGACCCTTTAGCCAATCTGAAAAGGCTCCTCTGTGTATGGTCCTAGGAGGGGCTGTAAGACAGGACAAACTGTCCCTTTTGTGTTGTCTTATTGTTCCAACTTCCTTTAAAAACTGCACTTGCATTATATAGACAAATTAGAAACATATGCTGCATTCGTTTCTTCACTTAGATCAGCAGTTCTTAAATTGTGGTCTGTGGATTCCTAGGGGGTCCTCAAGAACCTTTCAGAGGGTTCATGAGGTTAAAACTATTTTCGTAACAATGCTAAGAGTCAGTTATGTGCTTTTTTATTAAAAAAA... | TTCCCTAAAGGCAAGAACAGACCCTTTAGCCAATCTGAAAAGGCTCCTCTGTGTATGGTCCTAGGAGGGGCTGTAAGACAGGACAAACTGTCCCTTTTGTGTTGTCTTATTGTTCCAACTTCCTTTAAAAACTGCACTTGCATTATATAGACAAATTAGAAACATATGCTGCATTCGTTTCTTCACTTAGATCAGCAGTTCTTAAATTGTGGTCTGTGGATTCCTAGGGGGTCCTCAAGAACCTTTCAGAGGGTTCATGAGGTTAAAACTATTTTCGTAACAATGCTAAGAGTCAGTTATGTGCTTTTTTATTAAAAAAA... |
Task1_train_9721 | This is a variant in GEMIN5 (gem nuclear organelle associated protein 5), located on Chromosome 5. Is this mutation a likely cause of disease or not? | Pathogenic; Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | GGAAACAATGGAAATCTGAGGGGCAGGATACTAGGAAGGAGGAAGCTGTCCAGAGAAAGACATCCACAACTCTGCCTGGAGATCCCATTGAGTCTTTGGCTAAATTAAAAGCCACGTATGTAAAGGAAACTCCTTAAGTCTAAACAAAGAATGACTAGGTAACTGTAAGCTGAACAATTCCCAGAGCTTACTCAGGACTTGGAGACATCTGAGTTTTGATTTGTTGAATGCATAAGGCATTCAAGAAAGATATCAAAATGTAGGAGGTAATTCTAGAATATGATAAACTTGCCCTAACGAAGTTTAAAAACAAGCCATGA... | GGAAACAATGGAAATCTGAGGGGCAGGATACTAGGAAGGAGGAAGCTGTCCAGAGAAAGACATCCACAACTCTGCCTGGAGATCCCATTGAGTCTTTGGCTAAATTAAAAGCCACGTATGTAAAGGAAACTCCTTAAGTCTAAACAAAGAATGACTAGGTAACTGTAAGCTGAACAATTCCCAGAGCTTACTCAGGACTTGGAGACATCTGAGTTTTGATTTGTTGAATGCATAAGGCATTCAAGAAAGATATCAAAATGTAGGAGGTAATTCTAGAATATGATAAACTTGCCCTAACGAAGTTTAAAAACAAGCCATGA... |
Task1_train_9722 | A variant affecting Chromosome 5, within the gene SGCD (sarcoglycan delta), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2F | GATTATGTGAGTAAGGAGAGTGCACTAATAAGTACTCATCATGCATTCTTTTCCACGTGTTGTCCCATTGCAGTAGAATGGCGACATCCACAAGAGTGGTGATGTCCACAGGAGTGGTTTCCTACACTCACAGCACTTTACCACCCATAGATTTCTTTTTATAAACACAATGTCATTTGATTCTTTCAAACTTTCTATAACATAGATAGATACAGTAGGCAGTGATAGTCCAATGTTATAGATGCAGAAACTGAGGTTCAGAAAGATCAAATGATTTGCCCCAAATCATGTTATCACAGAATAAGAATGAGTTGGGAAAT... | GATTATGTGAGTAAGGAGAGTGCACTAATAAGTACTCATCATGCATTCTTTTCCACGTGTTGTCCCATTGCAGTAGAATGGCGACATCCACAAGAGTGGTGATGTCCACAGGAGTGGTTTCCTACACTCACAGCACTTTACCACCCATAGATTTCTTTTTATAAACACAATGTCATTTGATTCTTTCAAACTTTCTATAACATAGATAGATACAGTAGGCAGTGATAGTCCAATGTTATAGATGCAGAAACTGAGGTTCAGAAAGATCAAATGATTTGCCCCAAATCATGTTATCACAGAATAAGAATGAGTTGGGAAAT... |
Task1_train_9723 | Located on Chromosome 5, this mutation impacts SGCD (sarcoglycan delta). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Dilated cardiomyopathy 1L | CTTACTTTTACAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTTATATGAGTTTGATTAATTATACCAATAAAACAACACTTGGATATAAGATCAAGTGAAACCAGGATCCTAGAACACTTTCCTTACAGCCTTTGTAAAATGCAATGAAGATAAAGCCTAGACTTATTATGCTCCCTGTCATAAACTTGACCAGGTTGTAAAGCAAAACTTTAAAAAATTCTCTGATCAAATACTGGAATGCTTTGTTAATGTCCTTGAGCATGAACTTCCTTTTGTATTTATTAAAAAGAAAAAGGGATCTTTATTGACGATCTTGGGTG... | CTTACTTTTACAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTTATATGAGTTTGATTAATTATACCAATAAAACAACACTTGGATATAAGATCAAGTGAAACCAGGATCCTAGAACACTTTCCTTACAGCCTTTGTAAAATGCAATGAAGATAAAGCCTAGACTTATTATGCTCCCTGTCATAAACTTGACCAGGTTGTAAAGCAAAACTTTAAAAAATTCTCTGATCAAATACTGGAATGCTTTGTTAATGTCCTTGAGCATGAACTTCCTTTTGTATTTATTAAAAAGAAAAAGGGATCTTTATTGACGATCTTGGGTG... |
Task1_train_9724 | Consider this mutation in ITK (IL2 inducible T cell kinase) on Chromosome 5. Is this a benign change or a disease-causing variant? | Pathogenic; Lymphoproliferative syndrome 1 | AAGTTGGCAAAGATGAGTCTCAGTTAGTGGGTTTGATGGCTCTATGAGAAAGAGAATAAAATTACTTACGATGACACTCCATGTAGACTGAGCAAACGAAAGACTCCTAAGTATTGCAACAGCTACTGATGATATTTTGTTTTCCCGGATGAGAACACTTTGTGAAGTCTATAACTCTTTTCATCTGAACCAAGCAGGTGTAAAATGTACTTTCCTCAGAGGAGTTTGTAGTCTAGTTTGAGAAGATAGCACTGTATTATCTAGGTTTGCTGGTAGTGACAGAAACCTCAAAATAACTGAGACTTAGAAAATAGATATTA... | AAGTTGGCAAAGATGAGTCTCAGTTAGTGGGTTTGATGGCTCTATGAGAAAGAGAATAAAATTACTTACGATGACACTCCATGTAGACTGAGCAAACGAAAGACTCCTAAGTATTGCAACAGCTACTGATGATATTTTGTTTTCCCGGATGAGAACACTTTGTGAAGTCTATAACTCTTTTCATCTGAACCAAGCAGGTGTAAAATGTACTTTCCTCAGAGGAGTTTGTAGTCTAGTTTGAGAAGATAGCACTGTATTATCTAGGTTTGCTGGTAGTGACAGAAACCTCAAAATAACTGAGACTTAGAAAATAGATATTA... |
Task1_train_9725 | Chromosome 5 houses a mutation in gene ITK (IL2 inducible T cell kinase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Lymphoproliferative syndrome 1 | ACCATGCAAGCAGGTCTTTCTAAGGAGGGTAGTCAGGCCTGTTATGTTCATCCTCTGCAGCTTATTTGACTTATGAAGTCAAATAAGGGTGAAGGGGTCAGAGAGGCTTTCTCAATGTATGCTGACAATCAGTTAAATTCATAGAATAGGCAAGGCAAACACATAGCAAATATTTCCATTCCCTCATTTTGTGGCAATGGAAGAACCATCACCAATCCATCACAGCATTGCTGTCCACTGGGTCCAGACACAACCTCAGAGTCCTTTTTAACACAGTACTGCAGCACCCAGGCCCAATCTGTCAAGACAGACTTATAAGT... | ACCATGCAAGCAGGTCTTTCTAAGGAGGGTAGTCAGGCCTGTTATGTTCATCCTCTGCAGCTTATTTGACTTATGAAGTCAAATAAGGGTGAAGGGGTCAGAGAGGCTTTCTCAATGTATGCTGACAATCAGTTAAATTCATAGAATAGGCAAGGCAAACACATAGCAAATATTTCCATTCCCTCATTTTGTGGCAATGGAAGAACCATCACCAATCCATCACAGCATTGCTGTCCACTGGGTCCAGACACAACCTCAGAGTCCTTTTTAACACAGTACTGCAGCACCCAGGCCCAATCTGTCAAGACAGACTTATAAGT... |
Task1_train_9726 | This gene mutation involves CYFIP2 (cytoplasmic FMR1 interacting protein 2) on Chromosome 5. Is it associated with any clinical condition, or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 65 | ATAGAATTAGCAATACTGTATTTTTTATTTTGTTTTCTATGAGTCTATCAAAAAGGCAACCCCAAACCTACCAACAAAATGTAAAACTCCTTACAAAATAGTCCATCACAGTCATCATTTGATGAGTTTTGGTATTATTCTTTTTTTCTTGGAGGCATTCCTCCACAAGCTCTCTTCTTTCCAATCTGCATGGGTTTGTCTCTAGACCAGCCCCGCCACTGATCCAAGATTCTCCTCATTATTTATTATCTTGGGAATTCCCTTTACCTCTGTCCTGTCCTGTATCCCATTCATATATCTTCCTCTGTGAAGTATTGAGA... | ATAGAATTAGCAATACTGTATTTTTTATTTTGTTTTCTATGAGTCTATCAAAAAGGCAACCCCAAACCTACCAACAAAATGTAAAACTCCTTACAAAATAGTCCATCACAGTCATCATTTGATGAGTTTTGGTATTATTCTTTTTTTCTTGGAGGCATTCCTCCACAAGCTCTCTTCTTTCCAATCTGCATGGGTTTGTCTCTAGACCAGCCCCGCCACTGATCCAAGATTCTCCTCATTATTTATTATCTTGGGAATTCCCTTTACCTCTGTCCTGTCCTGTATCCCATTCATATATCTTCCTCTGTGAAGTATTGAGA... |
Task1_train_9727 | A sequence alteration has been identified in CYFIP2 (cytoplasmic FMR1 interacting protein 2) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; Developmental and epileptic encephalopathy, 65 | AGCAGTGCCTGGCCTTGAACCCCGGTCTTTTGACTCCCAGTCCAGTGCTCCACCCATGGCATCTGTGGCCCTCTGGGAAAGCAGGGAGTGACTCCAGGGTGACACGTAATGAGGTTCTCCTCTGATATACACGCCCTTGGCCAAGCAGAGCAGGGAGCTACCTGGTGTGGCCAGGTCCACTGGCCCAGGGATGCCACGGGGCCCGGGTTGGCCATGAAGGTTTTCACAGTTCCACATTTATTTCTCAAACCTTAAACTGGTGCTTCCTTAGGACAGTGCTTTTTAAGAGCAGACATCTGCAGAAAAAAAAAAATACATAA... | AGCAGTGCCTGGCCTTGAACCCCGGTCTTTTGACTCCCAGTCCAGTGCTCCACCCATGGCATCTGTGGCCCTCTGGGAAAGCAGGGAGTGACTCCAGGGTGACACGTAATGAGGTTCTCCTCTGATATACACGCCCTTGGCCAAGCAGAGCAGGGAGCTACCTGGTGTGGCCAGGTCCACTGGCCCAGGGATGCCACGGGGCCCGGGTTGGCCATGAAGGTTTTCACAGTTCCACATTTATTTCTCAAACCTTAAACTGGTGCTTCCTTAGGACAGTGCTTTTTAAGAGCAGACATCTGCAGAAAAAAAAAAATACATAA... |
Task1_train_9728 | The gene CYFIP2 (cytoplasmic FMR1 interacting protein 2) on Chromosome 5 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Intellectual disability | GCAGTGCCTGGCCTTGAACCCCGGTCTTTTGACTCCCAGTCCAGTGCTCCACCCATGGCATCTGTGGCCCTCTGGGAAAGCAGGGAGTGACTCCAGGGTGACACGTAATGAGGTTCTCCTCTGATATACACGCCCTTGGCCAAGCAGAGCAGGGAGCTACCTGGTGTGGCCAGGTCCACTGGCCCAGGGATGCCACGGGGCCCGGGTTGGCCATGAAGGTTTTCACAGTTCCACATTTATTTCTCAAACCTTAAACTGGTGCTTCCTTAGGACAGTGCTTTTTAAGAGCAGACATCTGCAGAAAAAAAAAAATACATAAA... | GCAGTGCCTGGCCTTGAACCCCGGTCTTTTGACTCCCAGTCCAGTGCTCCACCCATGGCATCTGTGGCCCTCTGGGAAAGCAGGGAGTGACTCCAGGGTGACACGTAATGAGGTTCTCCTCTGATATACACGCCCTTGGCCAAGCAGAGCAGGGAGCTACCTGGTGTGGCCAGGTCCACTGGCCCAGGGATGCCACGGGGCCCGGGTTGGCCATGAAGGTTTTCACAGTTCCACATTTATTTCTCAAACCTTAAACTGGTGCTTCCTTAGGACAGTGCTTTTTAAGAGCAGACATCTGCAGAAAAAAAAAAATACATAAA... |
Task1_train_9729 | The gene CYFIP2 (cytoplasmic FMR1 interacting protein 2) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Developmental and epileptic encephalopathy, 65 | TCCCAAATGAATTTTTACAAGTCTTGGTTTTATTTGCACCCTGGACTTTTTCTTTGGACTGACTGTAAAGTAAGTTGCTTCTAAGCGGTGGAGGCTCAAGGAACGTAAGAGAGGGATGAAAGATGGTCTTTTCCTGACTGTGAACTTGTTTCTATTTCCCAAGCAAGTATAAAGCTGTCTTCCTTAAGGGGGGTTATTAGCAAGCGGCTGGCTGTGTTTTTCCCTCTTCAGGTATGTCCTCTACCCTCTGGATCTGTACAACGACAGCGCCTACTATGCTCTGACCAAGTTTAAAAAGCAGTTCCTGTACGATGAGATAG... | TCCCAAATGAATTTTTACAAGTCTTGGTTTTATTTGCACCCTGGACTTTTTCTTTGGACTGACTGTAAAGTAAGTTGCTTCTAAGCGGTGGAGGCTCAAGGAACGTAAGAGAGGGATGAAAGATGGTCTTTTCCTGACTGTGAACTTGTTTCTATTTCCCAAGCAAGTATAAAGCTGTCTTCCTTAAGGGGGGTTATTAGCAAGCGGCTGGCTGTGTTTTTCCCTCTTCAGGTATGTCCTCTACCCTCTGGATCTGTACAACGACAGCGCCTACTATGCTCTGACCAAGTTTAAAAAGCAGTTCCTGTACGATGAGATAG... |
Task1_train_9730 | A genetic alteration is present in CYFIP2 (cytoplasmic FMR1 interacting protein 2) on Chromosome 5. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Developmental and epileptic encephalopathy, 65 | AAATGAATTTTTACAAGTCTTGGTTTTATTTGCACCCTGGACTTTTTCTTTGGACTGACTGTAAAGTAAGTTGCTTCTAAGCGGTGGAGGCTCAAGGAACGTAAGAGAGGGATGAAAGATGGTCTTTTCCTGACTGTGAACTTGTTTCTATTTCCCAAGCAAGTATAAAGCTGTCTTCCTTAAGGGGGGTTATTAGCAAGCGGCTGGCTGTGTTTTTCCCTCTTCAGGTATGTCCTCTACCCTCTGGATCTGTACAACGACAGCGCCTACTATGCTCTGACCAAGTTTAAAAAGCAGTTCCTGTACGATGAGATAGAAGC... | AAATGAATTTTTACAAGTCTTGGTTTTATTTGCACCCTGGACTTTTTCTTTGGACTGACTGTAAAGTAAGTTGCTTCTAAGCGGTGGAGGCTCAAGGAACGTAAGAGAGGGATGAAAGATGGTCTTTTCCTGACTGTGAACTTGTTTCTATTTCCCAAGCAAGTATAAAGCTGTCTTCCTTAAGGGGGGTTATTAGCAAGCGGCTGGCTGTGTTTTTCCCTCTTCAGGTATGTCCTCTACCCTCTGGATCTGTACAACGACAGCGCCTACTATGCTCTGACCAAGTTTAAAAAGCAGTTCCTGTACGATGAGATAGAAGC... |
Task1_train_9731 | A mutation on Chromosome 5 affecting LOC129995124, NIPAL4 (ATAC-STARR-seq lymphoblastoid silent region 16559| NIPA like domain containing 4) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Autosomal recessive congenital ichthyosis 6 | ACATTACATCAAACTTGCTCAGAAGTTACAGTAAAGCAGAATCACATGAAAGTCTGGGTGCAAGAGTATATCTGGTTATAGATGATAGAGGCATAGTCACTAACCTTGTCAAACATTATCCTATGTGTAGGAATAGGCAAGGTCTAGGGTCATTTATCTTTTAAGAAATATAGTGTCTCAGGCAAAAGTTGTGGGGGCCTTGTGCTGTATCCTGCTTTGTTTTCAAAGCATTTTTCCAGAGAGGTGCACATCATTACAGAATCAAGGGCTTGTGAAATTATGCAGCAAGTAAAATGAGCAAACGTGGCTTGTTACATTTG... | ACATTACATCAAACTTGCTCAGAAGTTACAGTAAAGCAGAATCACATGAAAGTCTGGGTGCAAGAGTATATCTGGTTATAGATGATAGAGGCATAGTCACTAACCTTGTCAAACATTATCCTATGTGTAGGAATAGGCAAGGTCTAGGGTCATTTATCTTTTAAGAAATATAGTGTCTCAGGCAAAAGTTGTGGGGGCCTTGTGCTGTATCCTGCTTTGTTTTCAAAGCATTTTTCCAGAGAGGTGCACATCATTACAGAATCAAGGGCTTGTGAAATTATGCAGCAAGTAAAATGAGCAAACGTGGCTTGTTACATTTG... |
Task1_train_9732 | A genomic change on Chromosome 5 affects NIPAL4 (NIPA like domain containing 4). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Autosomal recessive congenital ichthyosis 6 | AGGCCAGAATGTGTTCCCCAGTCCTAGCATATTCTGGAAGAGATAACAGGAATCATCTGGCCCATGCTCAGAATTGGATTACTTTGGCCATCAGCCCTCTGTCTTTTACTTTTCACTGCAGTGGGAGAACTTGACTCAATGGAGGATGCTCAGCCCTTGGGTGTTGCGGGCTTTACTGTGACAGCCAAGTCCATCCACAGAGGGTTCGTTGGCTCCATCTGCTAGAGGTGCACCTTCAGGGAGCAGGGGAAGGGCGTGGGGATGAGTTTGGTCTTCCTCTCAGGAGTCACCTCCCCTAGCCCATGTTCTCCCAGGTTCTG... | AGGCCAGAATGTGTTCCCCAGTCCTAGCATATTCTGGAAGAGATAACAGGAATCATCTGGCCCATGCTCAGAATTGGATTACTTTGGCCATCAGCCCTCTGTCTTTTACTTTTCACTGCAGTGGGAGAACTTGACTCAATGGAGGATGCTCAGCCCTTGGGTGTTGCGGGCTTTACTGTGACAGCCAAGTCCATCCACAGAGGGTTCGTTGGCTCCATCTGCTAGAGGTGCACCTTCAGGGAGCAGGGGAAGGGCGTGGGGATGAGTTTGGTCTTCCTCTCAGGAGTCACCTCCCCTAGCCCATGTTCTCCCAGGTTCTG... |
Task1_train_9733 | Given this variant in gene NIPAL4 (NIPA like domain containing 4) on Chromosome 5, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Autosomal recessive congenital ichthyosis 6 | CAGTCCTAGCATATTCTGGAAGAGATAACAGGAATCATCTGGCCCATGCTCAGAATTGGATTACTTTGGCCATCAGCCCTCTGTCTTTTACTTTTCACTGCAGTGGGAGAACTTGACTCAATGGAGGATGCTCAGCCCTTGGGTGTTGCGGGCTTTACTGTGACAGCCAAGTCCATCCACAGAGGGTTCGTTGGCTCCATCTGCTAGAGGTGCACCTTCAGGGAGCAGGGGAAGGGCGTGGGGATGAGTTTGGTCTTCCTCTCAGGAGTCACCTCCCCTAGCCCATGTTCTCCCAGGTTCTGGCTCATTTCCTGGGCTCA... | CAGTCCTAGCATATTCTGGAAGAGATAACAGGAATCATCTGGCCCATGCTCAGAATTGGATTACTTTGGCCATCAGCCCTCTGTCTTTTACTTTTCACTGCAGTGGGAGAACTTGACTCAATGGAGGATGCTCAGCCCTTGGGTGTTGCGGGCTTTACTGTGACAGCCAAGTCCATCCACAGAGGGTTCGTTGGCTCCATCTGCTAGAGGTGCACCTTCAGGGAGCAGGGGAAGGGCGTGGGGATGAGTTTGGTCTTCCTCTCAGGAGTCACCTCCCCTAGCCCATGTTCTCCCAGGTTCTGGCTCATTTCCTGGGCTCA... |
Task1_train_9734 | A variant on Chromosome 5 in gene NIPAL4 (NIPA like domain containing 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Autosomal recessive congenital ichthyosis 6 | AGGTTCCCACAGTTAGAGGTACTAGTGCACAGACTAGCACTAGTATTGGTATTACTGTTATCTCAGTGGGAGGTTCCCACAGTTAGAGGTACAGGTCTAGAGCCCATGTGTGCTGCAAAATGAATAGCTGTGAGGTGCAGAGATGAAGTCAGGAACAATGGTCATTGCCATTCCACCCTTCACTTCTAGACAAGTGTTGGAAAGGCCAGAGACCTTCCAGAGTGCCAGGGAAATTTCTGCTTGTGTTCAGAGAAGGTATCATTGACCATTCAGAAAGACAACTTCCCTGGAATCCATTTTTTTCTCCAATCTACTATTTC... | AGGTTCCCACAGTTAGAGGTACTAGTGCACAGACTAGCACTAGTATTGGTATTACTGTTATCTCAGTGGGAGGTTCCCACAGTTAGAGGTACAGGTCTAGAGCCCATGTGTGCTGCAAAATGAATAGCTGTGAGGTGCAGAGATGAAGTCAGGAACAATGGTCATTGCCATTCCACCCTTCACTTCTAGACAAGTGTTGGAAAGGCCAGAGACCTTCCAGAGTGCCAGGGAAATTTCTGCTTGTGTTCAGAGAAGGTATCATTGACCATTCAGAAAGACAACTTCCCTGGAATCCATTTTTTTCTCCAATCTACTATTTC... |
Task1_train_9735 | A variant on Chromosome 5 in gene NIPAL4 (NIPA like domain containing 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Autosomal recessive congenital ichthyosis 6 | CTGGATAAATGAGAGTGCCACTTACTATGTTTCATTTGGCAGGTGGGTGGGGAACATTTAAAACCAAGAGCTCCATTTAGGACAGAAATTGAGATGCCTGTGAGGAATCCAAGAGGAGATGTGAAGTAAGCAGTTGGATATACACCTGGACTCAGAAGGAAGGTCCAGGCTACAGATATAGAGGCATCAGATATAGATGGTATTTAAAACTTTAGGAACAAATGAACCCACCCAGGAGAAGGCCCAGAACCAAGCCTCAAGGAGCAGCCCTTAGAGGCCGGGGAGTGAGCAGAGAGTTAGGAAAGGTACCTGAGAAAGTG... | CTGGATAAATGAGAGTGCCACTTACTATGTTTCATTTGGCAGGTGGGTGGGGAACATTTAAAACCAAGAGCTCCATTTAGGACAGAAATTGAGATGCCTGTGAGGAATCCAAGAGGAGATGTGAAGTAAGCAGTTGGATATACACCTGGACTCAGAAGGAAGGTCCAGGCTACAGATATAGAGGCATCAGATATAGATGGTATTTAAAACTTTAGGAACAAATGAACCCACCCAGGAGAAGGCCCAGAACCAAGCCTCAAGGAGCAGCCCTTAGAGGCCGGGGAGTGAGCAGAGAGTTAGGAAAGGTACCTGAGAAAGTG... |
Task1_train_9736 | Mutation context: Chromosome 5, Gene NIPAL4 (NIPA like domain containing 4). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Autosomal recessive congenital ichthyosis 6 | AAATGTCTGTGCTTCCCACTGCCCCTAGTCCCCCTGAGCTACAAACACAGAGCCAGCTCCTCTGTGGGGGTCCTGGAGCCCTATTTGAAGGAGACTCTGATTGTTGGCGTAACCTTGGAACGCCGGTAAATTGTAGCAGACCACACCCAGTACCCATCATTTGTTTTACCATCTTGATGAAAATTTTGCAACATTTACACACTCAAAAAACAAATAGAACTCATGCTGTACAACTCGCCTGATTCATGCTGTATAACTGGCCTAACACAGCTGATGTAGCTGTGGTACCATAATTGCATATCTGATTAGTTTGCAAATTC... | AAATGTCTGTGCTTCCCACTGCCCCTAGTCCCCCTGAGCTACAAACACAGAGCCAGCTCCTCTGTGGGGGTCCTGGAGCCCTATTTGAAGGAGACTCTGATTGTTGGCGTAACCTTGGAACGCCGGTAAATTGTAGCAGACCACACCCAGTACCCATCATTTGTTTTACCATCTTGATGAAAATTTTGCAACATTTACACACTCAAAAAACAAATAGAACTCATGCTGTACAACTCGCCTGATTCATGCTGTATAACTGGCCTAACACAGCTGATGTAGCTGTGGTACCATAATTGCATATCTGATTAGTTTGCAAATTC... |
Task1_train_9737 | Mutation context: Chromosome 5, Gene NIPAL4 (NIPA like domain containing 4). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Lamellar ichthyosis | GGGGGTCCTGGAGCCCTATTTGAAGGAGACTCTGATTGTTGGCGTAACCTTGGAACGCCGGTAAATTGTAGCAGACCACACCCAGTACCCATCATTTGTTTTACCATCTTGATGAAAATTTTGCAACATTTACACACTCAAAAAACAAATAGAACTCATGCTGTACAACTCGCCTGATTCATGCTGTATAACTGGCCTAACACAGCTGATGTAGCTGTGGTACCATAATTGCATATCTGATTAGTTTGCAAATTCCTACCCGGGGGAAGTTGGGAGAGCCATAAAATCCTCCAGTGTGTGGCCCCTGCCTGCATGAATAA... | GGGGGTCCTGGAGCCCTATTTGAAGGAGACTCTGATTGTTGGCGTAACCTTGGAACGCCGGTAAATTGTAGCAGACCACACCCAGTACCCATCATTTGTTTTACCATCTTGATGAAAATTTTGCAACATTTACACACTCAAAAAACAAATAGAACTCATGCTGTACAACTCGCCTGATTCATGCTGTATAACTGGCCTAACACAGCTGATGTAGCTGTGGTACCATAATTGCATATCTGATTAGTTTGCAAATTCCTACCCGGGGGAAGTTGGGAGAGCCATAAAATCCTCCAGTGTGTGGCCCCTGCCTGCATGAATAA... |
Task1_train_9738 | The following genetic variant occurs in NIPAL4 (NIPA like domain containing 4) on Chromosome 5. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Autosomal recessive congenital ichthyosis 6 | CTGGAGCCCTATTTGAAGGAGACTCTGATTGTTGGCGTAACCTTGGAACGCCGGTAAATTGTAGCAGACCACACCCAGTACCCATCATTTGTTTTACCATCTTGATGAAAATTTTGCAACATTTACACACTCAAAAAACAAATAGAACTCATGCTGTACAACTCGCCTGATTCATGCTGTATAACTGGCCTAACACAGCTGATGTAGCTGTGGTACCATAATTGCATATCTGATTAGTTTGCAAATTCCTACCCGGGGGAAGTTGGGAGAGCCATAAAATCCTCCAGTGTGTGGCCCCTGCCTGCATGAATAATCTCTTG... | CTGGAGCCCTATTTGAAGGAGACTCTGATTGTTGGCGTAACCTTGGAACGCCGGTAAATTGTAGCAGACCACACCCAGTACCCATCATTTGTTTTACCATCTTGATGAAAATTTTGCAACATTTACACACTCAAAAAACAAATAGAACTCATGCTGTACAACTCGCCTGATTCATGCTGTATAACTGGCCTAACACAGCTGATGTAGCTGTGGTACCATAATTGCATATCTGATTAGTTTGCAAATTCCTACCCGGGGGAAGTTGGGAGAGCCATAAAATCCTCCAGTGTGTGGCCCCTGCCTGCATGAATAATCTCTTG... |
Task1_train_9739 | The variant affects gene NIPAL4 (NIPA like domain containing 4), which is on Chromosome 5. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | GAAGGAGACTCTGATTGTTGGCGTAACCTTGGAACGCCGGTAAATTGTAGCAGACCACACCCAGTACCCATCATTTGTTTTACCATCTTGATGAAAATTTTGCAACATTTACACACTCAAAAAACAAATAGAACTCATGCTGTACAACTCGCCTGATTCATGCTGTATAACTGGCCTAACACAGCTGATGTAGCTGTGGTACCATAATTGCATATCTGATTAGTTTGCAAATTCCTACCCGGGGGAAGTTGGGAGAGCCATAAAATCCTCCAGTGTGTGGCCCCTGCCTGCATGAATAATCTCTTGAATGGGACATTGCG... | GAAGGAGACTCTGATTGTTGGCGTAACCTTGGAACGCCGGTAAATTGTAGCAGACCACACCCAGTACCCATCATTTGTTTTACCATCTTGATGAAAATTTTGCAACATTTACACACTCAAAAAACAAATAGAACTCATGCTGTACAACTCGCCTGATTCATGCTGTATAACTGGCCTAACACAGCTGATGTAGCTGTGGTACCATAATTGCATATCTGATTAGTTTGCAAATTCCTACCCGGGGGAAGTTGGGAGAGCCATAAAATCCTCCAGTGTGTGGCCCCTGCCTGCATGAATAATCTCTTGAATGGGACATTGCG... |
Task1_train_9740 | A mutation in NIPAL4 (NIPA like domain containing 4), located on Chromosome 5, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Autosomal recessive congenital ichthyosis 6 | AATTGAAGACTCAGGGAAGTCACAAGGATCCTCTTCAACGAGGCATAGAAGAAAACCCATGAGCTTTATAATTAGAAAGGACTCGAGCTCAATTCCTGGTTCCACTACTTGCTAGTCATTTGACCTTGCCAAGTCATTTTAACTTCTTTGAGATTCAGTCTTCTCATTTATCAACTGGAGATAGTATATTTCACTTTGCAAAGAGTTATGAGATGCTAGTGTGATAGACGGGAAGTTCCTAGCACCATACATAGTAGGTAATAAATGCCTAAGACATGGTACCTGTGATTGTCACTGAGGTTGTTTACACTGGCTTATAC... | AATTGAAGACTCAGGGAAGTCACAAGGATCCTCTTCAACGAGGCATAGAAGAAAACCCATGAGCTTTATAATTAGAAAGGACTCGAGCTCAATTCCTGGTTCCACTACTTGCTAGTCATTTGACCTTGCCAAGTCATTTTAACTTCTTTGAGATTCAGTCTTCTCATTTATCAACTGGAGATAGTATATTTCACTTTGCAAAGAGTTATGAGATGCTAGTGTGATAGACGGGAAGTTCCTAGCACCATACATAGTAGGTAATAAATGCCTAAGACATGGTACCTGTGATTGTCACTGAGGTTGTTTACACTGGCTTATAC... |
Task1_train_9741 | The gene NIPAL4 (NIPA like domain containing 4) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not specified | ACTCAGGGAAGTCACAAGGATCCTCTTCAACGAGGCATAGAAGAAAACCCATGAGCTTTATAATTAGAAAGGACTCGAGCTCAATTCCTGGTTCCACTACTTGCTAGTCATTTGACCTTGCCAAGTCATTTTAACTTCTTTGAGATTCAGTCTTCTCATTTATCAACTGGAGATAGTATATTTCACTTTGCAAAGAGTTATGAGATGCTAGTGTGATAGACGGGAAGTTCCTAGCACCATACATAGTAGGTAATAAATGCCTAAGACATGGTACCTGTGATTGTCACTGAGGTTGTTTACACTGGCTTATACAAATGAAA... | ACTCAGGGAAGTCACAAGGATCCTCTTCAACGAGGCATAGAAGAAAACCCATGAGCTTTATAATTAGAAAGGACTCGAGCTCAATTCCTGGTTCCACTACTTGCTAGTCATTTGACCTTGCCAAGTCATTTTAACTTCTTTGAGATTCAGTCTTCTCATTTATCAACTGGAGATAGTATATTTCACTTTGCAAAGAGTTATGAGATGCTAGTGTGATAGACGGGAAGTTCCTAGCACCATACATAGTAGGTAATAAATGCCTAAGACATGGTACCTGTGATTGTCACTGAGGTTGTTTACACTGGCTTATACAAATGAAA... |
Task1_train_9742 | This variant affects the gene NIPAL4 (NIPA like domain containing 4) found on Chromosome 5. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Lamellar ichthyosis | AACCCATGAGCTTTATAATTAGAAAGGACTCGAGCTCAATTCCTGGTTCCACTACTTGCTAGTCATTTGACCTTGCCAAGTCATTTTAACTTCTTTGAGATTCAGTCTTCTCATTTATCAACTGGAGATAGTATATTTCACTTTGCAAAGAGTTATGAGATGCTAGTGTGATAGACGGGAAGTTCCTAGCACCATACATAGTAGGTAATAAATGCCTAAGACATGGTACCTGTGATTGTCACTGAGGTTGTTTACACTGGCTTATACAAATGAAATAATAGGTGTGTTATGAATGACCCGAGGAGCAGAGATAGAGCAAA... | AACCCATGAGCTTTATAATTAGAAAGGACTCGAGCTCAATTCCTGGTTCCACTACTTGCTAGTCATTTGACCTTGCCAAGTCATTTTAACTTCTTTGAGATTCAGTCTTCTCATTTATCAACTGGAGATAGTATATTTCACTTTGCAAAGAGTTATGAGATGCTAGTGTGATAGACGGGAAGTTCCTAGCACCATACATAGTAGGTAATAAATGCCTAAGACATGGTACCTGTGATTGTCACTGAGGTTGTTTACACTGGCTTATACAAATGAAATAATAGGTGTGTTATGAATGACCCGAGGAGCAGAGATAGAGCAAA... |
Task1_train_9743 | A variant affecting Chromosome 5, within the gene NIPAL4 (NIPA like domain containing 4), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal recessive congenital ichthyosis 6 | AACCCATGAGCTTTATAATTAGAAAGGACTCGAGCTCAATTCCTGGTTCCACTACTTGCTAGTCATTTGACCTTGCCAAGTCATTTTAACTTCTTTGAGATTCAGTCTTCTCATTTATCAACTGGAGATAGTATATTTCACTTTGCAAAGAGTTATGAGATGCTAGTGTGATAGACGGGAAGTTCCTAGCACCATACATAGTAGGTAATAAATGCCTAAGACATGGTACCTGTGATTGTCACTGAGGTTGTTTACACTGGCTTATACAAATGAAATAATAGGTGTGTTATGAATGACCCGAGGAGCAGAGATAGAGCAAA... | AACCCATGAGCTTTATAATTAGAAAGGACTCGAGCTCAATTCCTGGTTCCACTACTTGCTAGTCATTTGACCTTGCCAAGTCATTTTAACTTCTTTGAGATTCAGTCTTCTCATTTATCAACTGGAGATAGTATATTTCACTTTGCAAAGAGTTATGAGATGCTAGTGTGATAGACGGGAAGTTCCTAGCACCATACATAGTAGGTAATAAATGCCTAAGACATGGTACCTGTGATTGTCACTGAGGTTGTTTACACTGGCTTATACAAATGAAATAATAGGTGTGTTATGAATGACCCGAGGAGCAGAGATAGAGCAAA... |
Task1_train_9744 | A mutation found in NIPAL4 (NIPA like domain containing 4) on Chromosome 5 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Autosomal recessive congenital ichthyosis 6 | ACTACTTGCTAGTCATTTGACCTTGCCAAGTCATTTTAACTTCTTTGAGATTCAGTCTTCTCATTTATCAACTGGAGATAGTATATTTCACTTTGCAAAGAGTTATGAGATGCTAGTGTGATAGACGGGAAGTTCCTAGCACCATACATAGTAGGTAATAAATGCCTAAGACATGGTACCTGTGATTGTCACTGAGGTTGTTTACACTGGCTTATACAAATGAAATAATAGGTGTGTTATGAATGACCCGAGGAGCAGAGATAGAGCAAAAAATAGAAATTACCAGAAGGCATATTTTTGGTAAATGATTAGAGCAAACC... | ACTACTTGCTAGTCATTTGACCTTGCCAAGTCATTTTAACTTCTTTGAGATTCAGTCTTCTCATTTATCAACTGGAGATAGTATATTTCACTTTGCAAAGAGTTATGAGATGCTAGTGTGATAGACGGGAAGTTCCTAGCACCATACATAGTAGGTAATAAATGCCTAAGACATGGTACCTGTGATTGTCACTGAGGTTGTTTACACTGGCTTATACAAATGAAATAATAGGTGTGTTATGAATGACCCGAGGAGCAGAGATAGAGCAAAAAATAGAAATTACCAGAAGGCATATTTTTGGTAAATGATTAGAGCAAACC... |
Task1_train_9745 | A variant was discovered on Chromosome 5, affecting NIPAL4 (NIPA like domain containing 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Autosomal recessive congenital ichthyosis 6 | AGATAGTATATTTCACTTTGCAAAGAGTTATGAGATGCTAGTGTGATAGACGGGAAGTTCCTAGCACCATACATAGTAGGTAATAAATGCCTAAGACATGGTACCTGTGATTGTCACTGAGGTTGTTTACACTGGCTTATACAAATGAAATAATAGGTGTGTTATGAATGACCCGAGGAGCAGAGATAGAGCAAAAAATAGAAATTACCAGAAGGCATATTTTTGGTAAATGATTAGAGCAAACCTACAATGGCCTCATTTGGCTTGTGAAGGGGTGGGCTCCCTGCCACCAGAGGTATCTATAAGCCAAAGCTGAGAGC... | AGATAGTATATTTCACTTTGCAAAGAGTTATGAGATGCTAGTGTGATAGACGGGAAGTTCCTAGCACCATACATAGTAGGTAATAAATGCCTAAGACATGGTACCTGTGATTGTCACTGAGGTTGTTTACACTGGCTTATACAAATGAAATAATAGGTGTGTTATGAATGACCCGAGGAGCAGAGATAGAGCAAAAAATAGAAATTACCAGAAGGCATATTTTTGGTAAATGATTAGAGCAAACCTACAATGGCCTCATTTGGCTTGTGAAGGGGTGGGCTCCCTGCCACCAGAGGTATCTATAAGCCAAAGCTGAGAGC... |
Task1_train_9746 | A variant found in Chromosome 5 affects LSM11 (LSM11, U7 small nuclear RNA associated). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Aicardi-Goutieres syndrome 8 | TTCTTTCATTAATTAAGAAAAACATTTATTGACTTCCCATTTTGGCTGAACCCCATGCTAGGTGCAAAAGTTTCAGAAAGGAACTTGCACTTTACAGTACATGGGAAGGTAAATAAGGATAGAGGTGAAGCAGACATCAGTAAACAAAGCATTTTGCATGATGTCTTTTTTTTTTTTTTTTGAGACAGTGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTCCTGAGTAGCTGGGATTACAGGCCCCTGCCACCATGCCCAGCTGATTTTTGTATTTTTAGTAGAGA... | TTCTTTCATTAATTAAGAAAAACATTTATTGACTTCCCATTTTGGCTGAACCCCATGCTAGGTGCAAAAGTTTCAGAAAGGAACTTGCACTTTACAGTACATGGGAAGGTAAATAAGGATAGAGGTGAAGCAGACATCAGTAAACAAAGCATTTTGCATGATGTCTTTTTTTTTTTTTTTTGAGACAGTGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTCCTGAGTAGCTGGGATTACAGGCCCCTGCCACCATGCCCAGCTGATTTTTGTATTTTTAGTAGAGA... |
Task1_train_9747 | Consider this mutation in GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2) on Chromosome 5. Is this a benign change or a disease-causing variant? | Pathogenic; Intellectual disability | TTGTTCTCTCATATTCCATCACTTGAATGGTAGGGTCTACCTTCAACCAAGAGGATAGGCTTTTCACCACTATGGGGTAACTGCCTAGTGAACTTTTCTCTATTTCCGTTTTAGAACTATCTGAAGCTCTGCAGGTTCAGTTTGTATAAAACCTCCTCCCTCTAGGTCTTAACTTTATCATTTAAATGCAAATTGGTATAAAAAATAGGGTAGATGAAAGTGAAGAGATCAGATGTTATCTTATTAAGTCAGCCTTTCATTATGCAATTGATTTAGACTCATTTTGAAGTCCTATGAGATAGCATTATTTGTTTGTTTAT... | TTGTTCTCTCATATTCCATCACTTGAATGGTAGGGTCTACCTTCAACCAAGAGGATAGGCTTTTCACCACTATGGGGTAACTGCCTAGTGAACTTTTCTCTATTTCCGTTTTAGAACTATCTGAAGCTCTGCAGGTTCAGTTTGTATAAAACCTCCTCCCTCTAGGTCTTAACTTTATCATTTAAATGCAAATTGGTATAAAAAATAGGGTAGATGAAAGTGAAGAGATCAGATGTTATCTTATTAAGTCAGCCTTTCATTATGCAATTGATTTAGACTCATTTTGAAGTCCTATGAGATAGCATTATTTGTTTGTTTAT... |
Task1_train_9748 | This genomic variant is located on Chromosome 5, within the GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Developmental and epileptic encephalopathy 92 | TCTACCTTCAACCAAGAGGATAGGCTTTTCACCACTATGGGGTAACTGCCTAGTGAACTTTTCTCTATTTCCGTTTTAGAACTATCTGAAGCTCTGCAGGTTCAGTTTGTATAAAACCTCCTCCCTCTAGGTCTTAACTTTATCATTTAAATGCAAATTGGTATAAAAAATAGGGTAGATGAAAGTGAAGAGATCAGATGTTATCTTATTAAGTCAGCCTTTCATTATGCAATTGATTTAGACTCATTTTGAAGTCCTATGAGATAGCATTATTTGTTTGTTTATTTATTTATTTATTCTCTTCTCTTCTCTAAGACTAC... | TCTACCTTCAACCAAGAGGATAGGCTTTTCACCACTATGGGGTAACTGCCTAGTGAACTTTTCTCTATTTCCGTTTTAGAACTATCTGAAGCTCTGCAGGTTCAGTTTGTATAAAACCTCCTCCCTCTAGGTCTTAACTTTATCATTTAAATGCAAATTGGTATAAAAAATAGGGTAGATGAAAGTGAAGAGATCAGATGTTATCTTATTAAGTCAGCCTTTCATTATGCAATTGATTTAGACTCATTTTGAAGTCCTATGAGATAGCATTATTTGTTTGTTTATTTATTTATTTATTCTCTTCTCTTCTCTAAGACTAC... |
Task1_train_9749 | Mutation context: Chromosome 5, Gene GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Intellectual disability | TCTACCTTCAACCAAGAGGATAGGCTTTTCACCACTATGGGGTAACTGCCTAGTGAACTTTTCTCTATTTCCGTTTTAGAACTATCTGAAGCTCTGCAGGTTCAGTTTGTATAAAACCTCCTCCCTCTAGGTCTTAACTTTATCATTTAAATGCAAATTGGTATAAAAAATAGGGTAGATGAAAGTGAAGAGATCAGATGTTATCTTATTAAGTCAGCCTTTCATTATGCAATTGATTTAGACTCATTTTGAAGTCCTATGAGATAGCATTATTTGTTTGTTTATTTATTTATTTATTCTCTTCTCTTCTCTAAGACTAC... | TCTACCTTCAACCAAGAGGATAGGCTTTTCACCACTATGGGGTAACTGCCTAGTGAACTTTTCTCTATTTCCGTTTTAGAACTATCTGAAGCTCTGCAGGTTCAGTTTGTATAAAACCTCCTCCCTCTAGGTCTTAACTTTATCATTTAAATGCAAATTGGTATAAAAAATAGGGTAGATGAAAGTGAAGAGATCAGATGTTATCTTATTAAGTCAGCCTTTCATTATGCAATTGATTTAGACTCATTTTGAAGTCCTATGAGATAGCATTATTTGTTTGTTTATTTATTTATTTATTCTCTTCTCTTCTCTAAGACTAC... |
Task1_train_9750 | Gene GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2), found on Chromosome 5, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Intellectual disability | TATGGGGTAACTGCCTAGTGAACTTTTCTCTATTTCCGTTTTAGAACTATCTGAAGCTCTGCAGGTTCAGTTTGTATAAAACCTCCTCCCTCTAGGTCTTAACTTTATCATTTAAATGCAAATTGGTATAAAAAATAGGGTAGATGAAAGTGAAGAGATCAGATGTTATCTTATTAAGTCAGCCTTTCATTATGCAATTGATTTAGACTCATTTTGAAGTCCTATGAGATAGCATTATTTGTTTGTTTATTTATTTATTTATTCTCTTCTCTTCTCTAAGACTACTATGTCATGAAAATCAGAAAATAGGTTTAGAAAAT... | TATGGGGTAACTGCCTAGTGAACTTTTCTCTATTTCCGTTTTAGAACTATCTGAAGCTCTGCAGGTTCAGTTTGTATAAAACCTCCTCCCTCTAGGTCTTAACTTTATCATTTAAATGCAAATTGGTATAAAAAATAGGGTAGATGAAAGTGAAGAGATCAGATGTTATCTTATTAAGTCAGCCTTTCATTATGCAATTGATTTAGACTCATTTTGAAGTCCTATGAGATAGCATTATTTGTTTGTTTATTTATTTATTTATTCTCTTCTCTTCTCTAAGACTACTATGTCATGAAAATCAGAAAATAGGTTTAGAAAAT... |
Task1_train_9751 | A variant was discovered on Chromosome 5, affecting GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Developmental and epileptic encephalopathy 92 | GGGGTAACTGCCTAGTGAACTTTTCTCTATTTCCGTTTTAGAACTATCTGAAGCTCTGCAGGTTCAGTTTGTATAAAACCTCCTCCCTCTAGGTCTTAACTTTATCATTTAAATGCAAATTGGTATAAAAAATAGGGTAGATGAAAGTGAAGAGATCAGATGTTATCTTATTAAGTCAGCCTTTCATTATGCAATTGATTTAGACTCATTTTGAAGTCCTATGAGATAGCATTATTTGTTTGTTTATTTATTTATTTATTCTCTTCTCTTCTCTAAGACTACTATGTCATGAAAATCAGAAAATAGGTTTAGAAAATACT... | GGGGTAACTGCCTAGTGAACTTTTCTCTATTTCCGTTTTAGAACTATCTGAAGCTCTGCAGGTTCAGTTTGTATAAAACCTCCTCCCTCTAGGTCTTAACTTTATCATTTAAATGCAAATTGGTATAAAAAATAGGGTAGATGAAAGTGAAGAGATCAGATGTTATCTTATTAAGTCAGCCTTTCATTATGCAATTGATTTAGACTCATTTTGAAGTCCTATGAGATAGCATTATTTGTTTGTTTATTTATTTATTTATTCTCTTCTCTTCTCTAAGACTACTATGTCATGAAAATCAGAAAATAGGTTTAGAAAATACT... |
Task1_train_9752 | The gene GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2) is located on Chromosome 5, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | GCCTAGTGAACTTTTCTCTATTTCCGTTTTAGAACTATCTGAAGCTCTGCAGGTTCAGTTTGTATAAAACCTCCTCCCTCTAGGTCTTAACTTTATCATTTAAATGCAAATTGGTATAAAAAATAGGGTAGATGAAAGTGAAGAGATCAGATGTTATCTTATTAAGTCAGCCTTTCATTATGCAATTGATTTAGACTCATTTTGAAGTCCTATGAGATAGCATTATTTGTTTGTTTATTTATTTATTTATTCTCTTCTCTTCTCTAAGACTACTATGTCATGAAAATCAGAAAATAGGTTTAGAAAATACTCTTTCATTT... | GCCTAGTGAACTTTTCTCTATTTCCGTTTTAGAACTATCTGAAGCTCTGCAGGTTCAGTTTGTATAAAACCTCCTCCCTCTAGGTCTTAACTTTATCATTTAAATGCAAATTGGTATAAAAAATAGGGTAGATGAAAGTGAAGAGATCAGATGTTATCTTATTAAGTCAGCCTTTCATTATGCAATTGATTTAGACTCATTTTGAAGTCCTATGAGATAGCATTATTTGTTTGTTTATTTATTTATTTATTCTCTTCTCTTCTCTAAGACTACTATGTCATGAAAATCAGAAAATAGGTTTAGAAAATACTCTTTCATTT... |
Task1_train_9753 | Consider a variant on Chromosome 5 in gene GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2). Determine its clinical classification and disease relevance. | Pathogenic; Intellectual disability | AGTGAACTTTTCTCTATTTCCGTTTTAGAACTATCTGAAGCTCTGCAGGTTCAGTTTGTATAAAACCTCCTCCCTCTAGGTCTTAACTTTATCATTTAAATGCAAATTGGTATAAAAAATAGGGTAGATGAAAGTGAAGAGATCAGATGTTATCTTATTAAGTCAGCCTTTCATTATGCAATTGATTTAGACTCATTTTGAAGTCCTATGAGATAGCATTATTTGTTTGTTTATTTATTTATTTATTCTCTTCTCTTCTCTAAGACTACTATGTCATGAAAATCAGAAAATAGGTTTAGAAAATACTCTTTCATTTGACA... | AGTGAACTTTTCTCTATTTCCGTTTTAGAACTATCTGAAGCTCTGCAGGTTCAGTTTGTATAAAACCTCCTCCCTCTAGGTCTTAACTTTATCATTTAAATGCAAATTGGTATAAAAAATAGGGTAGATGAAAGTGAAGAGATCAGATGTTATCTTATTAAGTCAGCCTTTCATTATGCAATTGATTTAGACTCATTTTGAAGTCCTATGAGATAGCATTATTTGTTTGTTTATTTATTTATTTATTCTCTTCTCTTCTCTAAGACTACTATGTCATGAAAATCAGAAAATAGGTTTAGAAAATACTCTTTCATTTGACA... |
Task1_train_9754 | Located on Chromosome 5, this mutation impacts GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Developmental and epileptic encephalopathy 92 | GAAGCTCTGCAGGTTCAGTTTGTATAAAACCTCCTCCCTCTAGGTCTTAACTTTATCATTTAAATGCAAATTGGTATAAAAAATAGGGTAGATGAAAGTGAAGAGATCAGATGTTATCTTATTAAGTCAGCCTTTCATTATGCAATTGATTTAGACTCATTTTGAAGTCCTATGAGATAGCATTATTTGTTTGTTTATTTATTTATTTATTCTCTTCTCTTCTCTAAGACTACTATGTCATGAAAATCAGAAAATAGGTTTAGAAAATACTCTTTCATTTGACAGCCTGAGAGAACCATAATGGTAAATTGTGATTCCAA... | GAAGCTCTGCAGGTTCAGTTTGTATAAAACCTCCTCCCTCTAGGTCTTAACTTTATCATTTAAATGCAAATTGGTATAAAAAATAGGGTAGATGAAAGTGAAGAGATCAGATGTTATCTTATTAAGTCAGCCTTTCATTATGCAATTGATTTAGACTCATTTTGAAGTCCTATGAGATAGCATTATTTGTTTGTTTATTTATTTATTTATTCTCTTCTCTTCTCTAAGACTACTATGTCATGAAAATCAGAAAATAGGTTTAGAAAATACTCTTTCATTTGACAGCCTGAGAGAACCATAATGGTAAATTGTGATTCCAA... |
Task1_train_9755 | Consider this mutation in GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2) on Chromosome 5. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | TCAGTTTGTATAAAACCTCCTCCCTCTAGGTCTTAACTTTATCATTTAAATGCAAATTGGTATAAAAAATAGGGTAGATGAAAGTGAAGAGATCAGATGTTATCTTATTAAGTCAGCCTTTCATTATGCAATTGATTTAGACTCATTTTGAAGTCCTATGAGATAGCATTATTTGTTTGTTTATTTATTTATTTATTCTCTTCTCTTCTCTAAGACTACTATGTCATGAAAATCAGAAAATAGGTTTAGAAAATACTCTTTCATTTGACAGCCTGAGAGAACCATAATGGTAAATTGTGATTCCAATAAGTAAAACCTTG... | TCAGTTTGTATAAAACCTCCTCCCTCTAGGTCTTAACTTTATCATTTAAATGCAAATTGGTATAAAAAATAGGGTAGATGAAAGTGAAGAGATCAGATGTTATCTTATTAAGTCAGCCTTTCATTATGCAATTGATTTAGACTCATTTTGAAGTCCTATGAGATAGCATTATTTGTTTGTTTATTTATTTATTTATTCTCTTCTCTTCTCTAAGACTACTATGTCATGAAAATCAGAAAATAGGTTTAGAAAATACTCTTTCATTTGACAGCCTGAGAGAACCATAATGGTAAATTGTGATTCCAATAAGTAAAACCTTG... |
Task1_train_9756 | The following genetic variant occurs in GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2) on Chromosome 5. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Intellectual disability | CTATCCAATAACGCATCCTGAAGGTTAAATTTCATTCCTATGATTTTGGGGGGACACAGTTTTCTGATTTAATTTTATCTCAGTAGTAATAATGTCATAGTTTCTATTTTGTTTTTATACTCCACCAAGAAACAGCTACAGAATAAAAAAATAAATCTGAGCATTTGATTCTGAGCACGCCCATAAAACCTTGGTCTTGCTTTAGATACAGGTATCTTACATTTCTCGTGTCCTCTTTATAGCTGTCATTTTGAGACATTTTCCAGTTTCAATTTTCTCTTCATCATTTCAACTACGGATGATCCTGTATCATACGTATA... | CTATCCAATAACGCATCCTGAAGGTTAAATTTCATTCCTATGATTTTGGGGGGACACAGTTTTCTGATTTAATTTTATCTCAGTAGTAATAATGTCATAGTTTCTATTTTGTTTTTATACTCCACCAAGAAACAGCTACAGAATAAAAAAATAAATCTGAGCATTTGATTCTGAGCACGCCCATAAAACCTTGGTCTTGCTTTAGATACAGGTATCTTACATTTCTCGTGTCCTCTTTATAGCTGTCATTTTGAGACATTTTCCAGTTTCAATTTTCTCTTCATCATTTCAACTACGGATGATCCTGTATCATACGTATA... |
Task1_train_9757 | This sequence variant lies in GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2) on Chromosome 5. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Intellectual disability | TATCTCAGTAGTAATAATGTCATAGTTTCTATTTTGTTTTTATACTCCACCAAGAAACAGCTACAGAATAAAAAAATAAATCTGAGCATTTGATTCTGAGCACGCCCATAAAACCTTGGTCTTGCTTTAGATACAGGTATCTTACATTTCTCGTGTCCTCTTTATAGCTGTCATTTTGAGACATTTTCCAGTTTCAATTTTCTCTTCATCATTTCAACTACGGATGATCCTGTATCATACGTATATAATAAAACTGACATTGCTGATTTTACTACTTATCTAAATCTCATTTTAAAGTATTTCTGAAACTAGTAATAAAT... | TATCTCAGTAGTAATAATGTCATAGTTTCTATTTTGTTTTTATACTCCACCAAGAAACAGCTACAGAATAAAAAAATAAATCTGAGCATTTGATTCTGAGCACGCCCATAAAACCTTGGTCTTGCTTTAGATACAGGTATCTTACATTTCTCGTGTCCTCTTTATAGCTGTCATTTTGAGACATTTTCCAGTTTCAATTTTCTCTTCATCATTTCAACTACGGATGATCCTGTATCATACGTATATAATAAAACTGACATTGCTGATTTTACTACTTATCTAAATCTCATTTTAAAGTATTTCTGAAACTAGTAATAAAT... |
Task1_train_9758 | The gene GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2) on Chromosome 5 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | GTCATAGTTTCTATTTTGTTTTTATACTCCACCAAGAAACAGCTACAGAATAAAAAAATAAATCTGAGCATTTGATTCTGAGCACGCCCATAAAACCTTGGTCTTGCTTTAGATACAGGTATCTTACATTTCTCGTGTCCTCTTTATAGCTGTCATTTTGAGACATTTTCCAGTTTCAATTTTCTCTTCATCATTTCAACTACGGATGATCCTGTATCATACGTATATAATAAAACTGACATTGCTGATTTTACTACTTATCTAAATCTCATTTTAAAGTATTTCTGAAACTAGTAATAAATTGCTCACATAAAGACATT... | GTCATAGTTTCTATTTTGTTTTTATACTCCACCAAGAAACAGCTACAGAATAAAAAAATAAATCTGAGCATTTGATTCTGAGCACGCCCATAAAACCTTGGTCTTGCTTTAGATACAGGTATCTTACATTTCTCGTGTCCTCTTTATAGCTGTCATTTTGAGACATTTTCCAGTTTCAATTTTCTCTTCATCATTTCAACTACGGATGATCCTGTATCATACGTATATAATAAAACTGACATTGCTGATTTTACTACTTATCTAAATCTCATTTTAAAGTATTTCTGAAACTAGTAATAAATTGCTCACATAAAGACATT... |
Task1_train_9759 | This variant affects the gene GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2) found on Chromosome 5. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy 92 | TTTCTATTTTGTTTTTATACTCCACCAAGAAACAGCTACAGAATAAAAAAATAAATCTGAGCATTTGATTCTGAGCACGCCCATAAAACCTTGGTCTTGCTTTAGATACAGGTATCTTACATTTCTCGTGTCCTCTTTATAGCTGTCATTTTGAGACATTTTCCAGTTTCAATTTTCTCTTCATCATTTCAACTACGGATGATCCTGTATCATACGTATATAATAAAACTGACATTGCTGATTTTACTACTTATCTAAATCTCATTTTAAAGTATTTCTGAAACTAGTAATAAATTGCTCACATAAAGACATTTTAAAAA... | TTTCTATTTTGTTTTTATACTCCACCAAGAAACAGCTACAGAATAAAAAAATAAATCTGAGCATTTGATTCTGAGCACGCCCATAAAACCTTGGTCTTGCTTTAGATACAGGTATCTTACATTTCTCGTGTCCTCTTTATAGCTGTCATTTTGAGACATTTTCCAGTTTCAATTTTCTCTTCATCATTTCAACTACGGATGATCCTGTATCATACGTATATAATAAAACTGACATTGCTGATTTTACTACTTATCTAAATCTCATTTTAAAGTATTTCTGAAACTAGTAATAAATTGCTCACATAAAGACATTTTAAAAA... |
Task1_train_9760 | Consider this mutation in GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2) on Chromosome 5. Is this a benign change or a disease-causing variant? | Pathogenic; Intellectual disability | TGGTCTTGATCTCCTGACCTCGTGATCCGCCTGTTTTGGCCTCCCAAAGTGCTGGTATTACATGTGTGAGCCACTGCGCTCAGCCCCCTTTTCCTCTCAATTCTAAAGGCATTCTGATTTTGCTGTCCACTCAACTTTGCCTACATGCATTTATGAATTCATCCTCAACTTTTATTGCACTGCTATTTACAGTGTAGGTGCTTAGTCAGTATTGGGTATACAAAGGAGAATATGACATGTCCTGTGCCCTAAAAATAGGTATTCTGGAGAAACAGGAAGAGTGCAGGGTGATTTCTGCATTATTTCTGTGAAGATGAAGT... | TGGTCTTGATCTCCTGACCTCGTGATCCGCCTGTTTTGGCCTCCCAAAGTGCTGGTATTACATGTGTGAGCCACTGCGCTCAGCCCCCTTTTCCTCTCAATTCTAAAGGCATTCTGATTTTGCTGTCCACTCAACTTTGCCTACATGCATTTATGAATTCATCCTCAACTTTTATTGCACTGCTATTTACAGTGTAGGTGCTTAGTCAGTATTGGGTATACAAAGGAGAATATGACATGTCCTGTGCCCTAAAAATAGGTATTCTGGAGAAACAGGAAGAGTGCAGGGTGATTTCTGCATTATTTCTGTGAAGATGAAGT... |
Task1_train_9761 | Given a variant located on Chromosome 5 and affecting GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Inborn genetic diseases | TGGTCTTGATCTCCTGACCTCGTGATCCGCCTGTTTTGGCCTCCCAAAGTGCTGGTATTACATGTGTGAGCCACTGCGCTCAGCCCCCTTTTCCTCTCAATTCTAAAGGCATTCTGATTTTGCTGTCCACTCAACTTTGCCTACATGCATTTATGAATTCATCCTCAACTTTTATTGCACTGCTATTTACAGTGTAGGTGCTTAGTCAGTATTGGGTATACAAAGGAGAATATGACATGTCCTGTGCCCTAAAAATAGGTATTCTGGAGAAACAGGAAGAGTGCAGGGTGATTTCTGCATTATTTCTGTGAAGATGAAGT... | TGGTCTTGATCTCCTGACCTCGTGATCCGCCTGTTTTGGCCTCCCAAAGTGCTGGTATTACATGTGTGAGCCACTGCGCTCAGCCCCCTTTTCCTCTCAATTCTAAAGGCATTCTGATTTTGCTGTCCACTCAACTTTGCCTACATGCATTTATGAATTCATCCTCAACTTTTATTGCACTGCTATTTACAGTGTAGGTGCTTAGTCAGTATTGGGTATACAAAGGAGAATATGACATGTCCTGTGCCCTAAAAATAGGTATTCTGGAGAAACAGGAAGAGTGCAGGGTGATTTCTGCATTATTTCTGTGAAGATGAAGT... |
Task1_train_9762 | Given this context: Chromosome 5, gene GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Developmental and epileptic encephalopathy 92 | ACATCTCATGATTTTTCAGCAACAGTAAATAGCTTTAAGTGATGACACCTTGCCTTAACTGGATCTATATTTTGACTAGCAGGTCTTGGCATTGTTTCCACCTCAGATATCTCTCCAAAATGTTGCATGTAGGCAAAAAATGAATAGAACTTAAAGGAAAGAAAAATAAAAATTCTACCACTCTAAACAATGTTAGGATATAATACCTTTAAGTTATTAGCTAACCTACTGCAGCAACCTCTAGTCATCTCATGATTATCTCTTTGGGTTCTAAATTTTTCTTGATATGTTTCACAAAATCTCATTTTGTGATGCTCTAA... | ACATCTCATGATTTTTCAGCAACAGTAAATAGCTTTAAGTGATGACACCTTGCCTTAACTGGATCTATATTTTGACTAGCAGGTCTTGGCATTGTTTCCACCTCAGATATCTCTCCAAAATGTTGCATGTAGGCAAAAAATGAATAGAACTTAAAGGAAAGAAAAATAAAAATTCTACCACTCTAAACAATGTTAGGATATAATACCTTTAAGTTATTAGCTAACCTACTGCAGCAACCTCTAGTCATCTCATGATTATCTCTTTGGGTTCTAAATTTTTCTTGATATGTTTCACAAAATCTCATTTTGTGATGCTCTAA... |
Task1_train_9763 | The gene GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1) on Chromosome 5 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Epilepsy, idiopathic generalized, susceptibility to, 13 | AAACACAATAAACATGTGAACATCAGGATGTTGGCAAGTCTTGACATAATTTTTTGAAATTATTGCCTTTGGGATACATCTTGTCAAAGATTTGGTAATACATCTAGTTTCAGTTTAGTTTATACTTAACATTTATTTTATTTTCATAAAACCTCTTTGGAGCAAGCAAATAAAATGAACCAAAGGCTCGATTCATGGGAACGTGGTCACCTTCAGCATCCTTGGAACTTTGATTTGCAGGTGGCCATTCATTCCTTCTGCTGTTGACCAATCTAAAGTCATTCAGTTGGACAGAAACTAGAGCTTATATGGCTAAGACC... | AAACACAATAAACATGTGAACATCAGGATGTTGGCAAGTCTTGACATAATTTTTTGAAATTATTGCCTTTGGGATACATCTTGTCAAAGATTTGGTAATACATCTAGTTTCAGTTTAGTTTATACTTAACATTTATTTTATTTTCATAAAACCTCTTTGGAGCAAGCAAATAAAATGAACCAAAGGCTCGATTCATGGGAACGTGGTCACCTTCAGCATCCTTGGAACTTTGATTTGCAGGTGGCCATTCATTCCTTCTGCTGTTGACCAATCTAAAGTCATTCAGTTGGACAGAAACTAGAGCTTATATGGCTAAGACC... |
Task1_train_9764 | The gene GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1) is located on Chromosome 5, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Idiopathic generalized epilepsy | AAACACAATAAACATGTGAACATCAGGATGTTGGCAAGTCTTGACATAATTTTTTGAAATTATTGCCTTTGGGATACATCTTGTCAAAGATTTGGTAATACATCTAGTTTCAGTTTAGTTTATACTTAACATTTATTTTATTTTCATAAAACCTCTTTGGAGCAAGCAAATAAAATGAACCAAAGGCTCGATTCATGGGAACGTGGTCACCTTCAGCATCCTTGGAACTTTGATTTGCAGGTGGCCATTCATTCCTTCTGCTGTTGACCAATCTAAAGTCATTCAGTTGGACAGAAACTAGAGCTTATATGGCTAAGACC... | AAACACAATAAACATGTGAACATCAGGATGTTGGCAAGTCTTGACATAATTTTTTGAAATTATTGCCTTTGGGATACATCTTGTCAAAGATTTGGTAATACATCTAGTTTCAGTTTAGTTTATACTTAACATTTATTTTATTTTCATAAAACCTCTTTGGAGCAAGCAAATAAAATGAACCAAAGGCTCGATTCATGGGAACGTGGTCACCTTCAGCATCCTTGGAACTTTGATTTGCAGGTGGCCATTCATTCCTTCTGCTGTTGACCAATCTAAAGTCATTCAGTTGGACAGAAACTAGAGCTTATATGGCTAAGACC... |
Task1_train_9765 | The following genetic variant occurs in GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1) on Chromosome 5. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Epilepsy, childhood absence 4 | AAACACAATAAACATGTGAACATCAGGATGTTGGCAAGTCTTGACATAATTTTTTGAAATTATTGCCTTTGGGATACATCTTGTCAAAGATTTGGTAATACATCTAGTTTCAGTTTAGTTTATACTTAACATTTATTTTATTTTCATAAAACCTCTTTGGAGCAAGCAAATAAAATGAACCAAAGGCTCGATTCATGGGAACGTGGTCACCTTCAGCATCCTTGGAACTTTGATTTGCAGGTGGCCATTCATTCCTTCTGCTGTTGACCAATCTAAAGTCATTCAGTTGGACAGAAACTAGAGCTTATATGGCTAAGACC... | AAACACAATAAACATGTGAACATCAGGATGTTGGCAAGTCTTGACATAATTTTTTGAAATTATTGCCTTTGGGATACATCTTGTCAAAGATTTGGTAATACATCTAGTTTCAGTTTAGTTTATACTTAACATTTATTTTATTTTCATAAAACCTCTTTGGAGCAAGCAAATAAAATGAACCAAAGGCTCGATTCATGGGAACGTGGTCACCTTCAGCATCCTTGGAACTTTGATTTGCAGGTGGCCATTCATTCCTTCTGCTGTTGACCAATCTAAAGTCATTCAGTTGGACAGAAACTAGAGCTTATATGGCTAAGACC... |
Task1_train_9766 | A sequence alteration has been identified in GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; Epilepsy, idiopathic generalized, susceptibility to, 13 | ACTTCCTCTCCCTACTATAAAACTCATATATTCCTTCATTCCAGTAAGACCTAAATTTCTAGAAGCCATCTAATGATCTACATCTGAAAACATTCCTACTAAAAATGAAGTAATAAAAAACAAAAAATATGGAAAGTTACAAAATTCATAAAACACAGATTCATGTAGACATAGGTATTTTAAGAAGTATTTGAATTCACAATGGCGTTGATAGCTAGACGAGAATATAGATACTATTAATTTTGCTCAAACTAAAGACTACGTATACATTTCTGTTTTATAAACATTTCCCTCTCTTTAAGATTGCTGTAAAGCTTAGC... | ACTTCCTCTCCCTACTATAAAACTCATATATTCCTTCATTCCAGTAAGACCTAAATTTCTAGAAGCCATCTAATGATCTACATCTGAAAACATTCCTACTAAAAATGAAGTAATAAAAAACAAAAAATATGGAAAGTTACAAAATTCATAAAACACAGATTCATGTAGACATAGGTATTTTAAGAAGTATTTGAATTCACAATGGCGTTGATAGCTAGACGAGAATATAGATACTATTAATTTTGCTCAAACTAAAGACTACGTATACATTTCTGTTTTATAAACATTTCCCTCTCTTTAAGATTGCTGTAAAGCTTAGC... |
Task1_train_9767 | This gene mutation involves GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1) on Chromosome 5. Is it associated with any clinical condition, or is it benign? | Pathogenic; Idiopathic generalized epilepsy | GCCTCAGTGCATCCATTTTCACTATATGAAGGTATTAAATACTGAGGATATGGCCGGTCATGCTACATAACCAAATAACTATTCTTCTTTTAATTAACTTTCAGTTTGGTGGGAGGAATATATGTATGTAGTTAAATAACTAAAATGCAAAGTATGATATATTATAAATATATACAAGAGATATAAAGTTGAACACAGTAAGTGTTTAGTAAAGGGCAGGTGCTATTATCAATAACAGTTAATAATGAAAGCAGGCATAAGTGCGTAGATAATTTCCTGCTACAGAAAGCAGGATGTGTTATTCTACCAACACTTCTACC... | GCCTCAGTGCATCCATTTTCACTATATGAAGGTATTAAATACTGAGGATATGGCCGGTCATGCTACATAACCAAATAACTATTCTTCTTTTAATTAACTTTCAGTTTGGTGGGAGGAATATATGTATGTAGTTAAATAACTAAAATGCAAAGTATGATATATTATAAATATATACAAGAGATATAAAGTTGAACACAGTAAGTGTTTAGTAAAGGGCAGGTGCTATTATCAATAACAGTTAATAATGAAAGCAGGCATAAGTGCGTAGATAATTTCCTGCTACAGAAAGCAGGATGTGTTATTCTACCAACACTTCTACC... |
Task1_train_9768 | Chromosome 5 houses a mutation in gene GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Epilepsy, idiopathic generalized, susceptibility to, 13 | GCCTCAGTGCATCCATTTTCACTATATGAAGGTATTAAATACTGAGGATATGGCCGGTCATGCTACATAACCAAATAACTATTCTTCTTTTAATTAACTTTCAGTTTGGTGGGAGGAATATATGTATGTAGTTAAATAACTAAAATGCAAAGTATGATATATTATAAATATATACAAGAGATATAAAGTTGAACACAGTAAGTGTTTAGTAAAGGGCAGGTGCTATTATCAATAACAGTTAATAATGAAAGCAGGCATAAGTGCGTAGATAATTTCCTGCTACAGAAAGCAGGATGTGTTATTCTACCAACACTTCTACC... | GCCTCAGTGCATCCATTTTCACTATATGAAGGTATTAAATACTGAGGATATGGCCGGTCATGCTACATAACCAAATAACTATTCTTCTTTTAATTAACTTTCAGTTTGGTGGGAGGAATATATGTATGTAGTTAAATAACTAAAATGCAAAGTATGATATATTATAAATATATACAAGAGATATAAAGTTGAACACAGTAAGTGTTTAGTAAAGGGCAGGTGCTATTATCAATAACAGTTAATAATGAAAGCAGGCATAAGTGCGTAGATAATTTCCTGCTACAGAAAGCAGGATGTGTTATTCTACCAACACTTCTACC... |
Task1_train_9769 | Given this context: Chromosome 5, gene GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Epilepsy, childhood absence 4 | GCCTCAGTGCATCCATTTTCACTATATGAAGGTATTAAATACTGAGGATATGGCCGGTCATGCTACATAACCAAATAACTATTCTTCTTTTAATTAACTTTCAGTTTGGTGGGAGGAATATATGTATGTAGTTAAATAACTAAAATGCAAAGTATGATATATTATAAATATATACAAGAGATATAAAGTTGAACACAGTAAGTGTTTAGTAAAGGGCAGGTGCTATTATCAATAACAGTTAATAATGAAAGCAGGCATAAGTGCGTAGATAATTTCCTGCTACAGAAAGCAGGATGTGTTATTCTACCAACACTTCTACC... | GCCTCAGTGCATCCATTTTCACTATATGAAGGTATTAAATACTGAGGATATGGCCGGTCATGCTACATAACCAAATAACTATTCTTCTTTTAATTAACTTTCAGTTTGGTGGGAGGAATATATGTATGTAGTTAAATAACTAAAATGCAAAGTATGATATATTATAAATATATACAAGAGATATAAAGTTGAACACAGTAAGTGTTTAGTAAAGGGCAGGTGCTATTATCAATAACAGTTAATAATGAAAGCAGGCATAAGTGCGTAGATAATTTCCTGCTACAGAAAGCAGGATGTGTTATTCTACCAACACTTCTACC... |
Task1_train_9770 | Gene GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1), found on Chromosome 5, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | CCTCAGTGCATCCATTTTCACTATATGAAGGTATTAAATACTGAGGATATGGCCGGTCATGCTACATAACCAAATAACTATTCTTCTTTTAATTAACTTTCAGTTTGGTGGGAGGAATATATGTATGTAGTTAAATAACTAAAATGCAAAGTATGATATATTATAAATATATACAAGAGATATAAAGTTGAACACAGTAAGTGTTTAGTAAAGGGCAGGTGCTATTATCAATAACAGTTAATAATGAAAGCAGGCATAAGTGCGTAGATAATTTCCTGCTACAGAAAGCAGGATGTGTTATTCTACCAACACTTCTACCA... | CCTCAGTGCATCCATTTTCACTATATGAAGGTATTAAATACTGAGGATATGGCCGGTCATGCTACATAACCAAATAACTATTCTTCTTTTAATTAACTTTCAGTTTGGTGGGAGGAATATATGTATGTAGTTAAATAACTAAAATGCAAAGTATGATATATTATAAATATATACAAGAGATATAAAGTTGAACACAGTAAGTGTTTAGTAAAGGGCAGGTGCTATTATCAATAACAGTTAATAATGAAAGCAGGCATAAGTGCGTAGATAATTTCCTGCTACAGAAAGCAGGATGTGTTATTCTACCAACACTTCTACCA... |
Task1_train_9771 | The gene GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Idiopathic generalized epilepsy | CAGTGCATCCATTTTCACTATATGAAGGTATTAAATACTGAGGATATGGCCGGTCATGCTACATAACCAAATAACTATTCTTCTTTTAATTAACTTTCAGTTTGGTGGGAGGAATATATGTATGTAGTTAAATAACTAAAATGCAAAGTATGATATATTATAAATATATACAAGAGATATAAAGTTGAACACAGTAAGTGTTTAGTAAAGGGCAGGTGCTATTATCAATAACAGTTAATAATGAAAGCAGGCATAAGTGCGTAGATAATTTCCTGCTACAGAAAGCAGGATGTGTTATTCTACCAACACTTCTACCAGTT... | CAGTGCATCCATTTTCACTATATGAAGGTATTAAATACTGAGGATATGGCCGGTCATGCTACATAACCAAATAACTATTCTTCTTTTAATTAACTTTCAGTTTGGTGGGAGGAATATATGTATGTAGTTAAATAACTAAAATGCAAAGTATGATATATTATAAATATATACAAGAGATATAAAGTTGAACACAGTAAGTGTTTAGTAAAGGGCAGGTGCTATTATCAATAACAGTTAATAATGAAAGCAGGCATAAGTGCGTAGATAATTTCCTGCTACAGAAAGCAGGATGTGTTATTCTACCAACACTTCTACCAGTT... |
Task1_train_9772 | The variant affects gene GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1), which is on Chromosome 5. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Epilepsy, idiopathic generalized, susceptibility to, 13 | CAGTGCATCCATTTTCACTATATGAAGGTATTAAATACTGAGGATATGGCCGGTCATGCTACATAACCAAATAACTATTCTTCTTTTAATTAACTTTCAGTTTGGTGGGAGGAATATATGTATGTAGTTAAATAACTAAAATGCAAAGTATGATATATTATAAATATATACAAGAGATATAAAGTTGAACACAGTAAGTGTTTAGTAAAGGGCAGGTGCTATTATCAATAACAGTTAATAATGAAAGCAGGCATAAGTGCGTAGATAATTTCCTGCTACAGAAAGCAGGATGTGTTATTCTACCAACACTTCTACCAGTT... | CAGTGCATCCATTTTCACTATATGAAGGTATTAAATACTGAGGATATGGCCGGTCATGCTACATAACCAAATAACTATTCTTCTTTTAATTAACTTTCAGTTTGGTGGGAGGAATATATGTATGTAGTTAAATAACTAAAATGCAAAGTATGATATATTATAAATATATACAAGAGATATAAAGTTGAACACAGTAAGTGTTTAGTAAAGGGCAGGTGCTATTATCAATAACAGTTAATAATGAAAGCAGGCATAAGTGCGTAGATAATTTCCTGCTACAGAAAGCAGGATGTGTTATTCTACCAACACTTCTACCAGTT... |
Task1_train_9773 | This variant lies on Chromosome 5 and affects the gene GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Epilepsy, childhood absence 4 | CAGTGCATCCATTTTCACTATATGAAGGTATTAAATACTGAGGATATGGCCGGTCATGCTACATAACCAAATAACTATTCTTCTTTTAATTAACTTTCAGTTTGGTGGGAGGAATATATGTATGTAGTTAAATAACTAAAATGCAAAGTATGATATATTATAAATATATACAAGAGATATAAAGTTGAACACAGTAAGTGTTTAGTAAAGGGCAGGTGCTATTATCAATAACAGTTAATAATGAAAGCAGGCATAAGTGCGTAGATAATTTCCTGCTACAGAAAGCAGGATGTGTTATTCTACCAACACTTCTACCAGTT... | CAGTGCATCCATTTTCACTATATGAAGGTATTAAATACTGAGGATATGGCCGGTCATGCTACATAACCAAATAACTATTCTTCTTTTAATTAACTTTCAGTTTGGTGGGAGGAATATATGTATGTAGTTAAATAACTAAAATGCAAAGTATGATATATTATAAATATATACAAGAGATATAAAGTTGAACACAGTAAGTGTTTAGTAAAGGGCAGGTGCTATTATCAATAACAGTTAATAATGAAAGCAGGCATAAGTGCGTAGATAATTTCCTGCTACAGAAAGCAGGATGTGTTATTCTACCAACACTTCTACCAGTT... |
Task1_train_9774 | Given this context: Chromosome 5, gene GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Developmental and epileptic encephalopathy, 19 | AAATACTGAGGATATGGCCGGTCATGCTACATAACCAAATAACTATTCTTCTTTTAATTAACTTTCAGTTTGGTGGGAGGAATATATGTATGTAGTTAAATAACTAAAATGCAAAGTATGATATATTATAAATATATACAAGAGATATAAAGTTGAACACAGTAAGTGTTTAGTAAAGGGCAGGTGCTATTATCAATAACAGTTAATAATGAAAGCAGGCATAAGTGCGTAGATAATTTCCTGCTACAGAAAGCAGGATGTGTTATTCTACCAACACTTCTACCAGTTCTGATTGAGGAGAAGTGTGAAGAAAATGGAGA... | AAATACTGAGGATATGGCCGGTCATGCTACATAACCAAATAACTATTCTTCTTTTAATTAACTTTCAGTTTGGTGGGAGGAATATATGTATGTAGTTAAATAACTAAAATGCAAAGTATGATATATTATAAATATATACAAGAGATATAAAGTTGAACACAGTAAGTGTTTAGTAAAGGGCAGGTGCTATTATCAATAACAGTTAATAATGAAAGCAGGCATAAGTGCGTAGATAATTTCCTGCTACAGAAAGCAGGATGTGTTATTCTACCAACACTTCTACCAGTTCTGATTGAGGAGAAGTGTGAAGAAAATGGAGA... |
Task1_train_9775 | This variant impacts the gene GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1) on Chromosome 5. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | AATACTGAGGATATGGCCGGTCATGCTACATAACCAAATAACTATTCTTCTTTTAATTAACTTTCAGTTTGGTGGGAGGAATATATGTATGTAGTTAAATAACTAAAATGCAAAGTATGATATATTATAAATATATACAAGAGATATAAAGTTGAACACAGTAAGTGTTTAGTAAAGGGCAGGTGCTATTATCAATAACAGTTAATAATGAAAGCAGGCATAAGTGCGTAGATAATTTCCTGCTACAGAAAGCAGGATGTGTTATTCTACCAACACTTCTACCAGTTCTGATTGAGGAGAAGTGTGAAGAAAATGGAGAA... | AATACTGAGGATATGGCCGGTCATGCTACATAACCAAATAACTATTCTTCTTTTAATTAACTTTCAGTTTGGTGGGAGGAATATATGTATGTAGTTAAATAACTAAAATGCAAAGTATGATATATTATAAATATATACAAGAGATATAAAGTTGAACACAGTAAGTGTTTAGTAAAGGGCAGGTGCTATTATCAATAACAGTTAATAATGAAAGCAGGCATAAGTGCGTAGATAATTTCCTGCTACAGAAAGCAGGATGTGTTATTCTACCAACACTTCTACCAGTTCTGATTGAGGAGAAGTGTGAAGAAAATGGAGAA... |
Task1_train_9776 | A mutation in GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1), located on Chromosome 5, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Epilepsy, idiopathic generalized, susceptibility to, 13 | TATTCTTCTTTTAATTAACTTTCAGTTTGGTGGGAGGAATATATGTATGTAGTTAAATAACTAAAATGCAAAGTATGATATATTATAAATATATACAAGAGATATAAAGTTGAACACAGTAAGTGTTTAGTAAAGGGCAGGTGCTATTATCAATAACAGTTAATAATGAAAGCAGGCATAAGTGCGTAGATAATTTCCTGCTACAGAAAGCAGGATGTGTTATTCTACCAACACTTCTACCAGTTCTGATTGAGGAGAAGTGTGAAGAAAATGGAGAAACAAATTAAATTTATTTTAACATTATAATGTGGTTACATAGT... | TATTCTTCTTTTAATTAACTTTCAGTTTGGTGGGAGGAATATATGTATGTAGTTAAATAACTAAAATGCAAAGTATGATATATTATAAATATATACAAGAGATATAAAGTTGAACACAGTAAGTGTTTAGTAAAGGGCAGGTGCTATTATCAATAACAGTTAATAATGAAAGCAGGCATAAGTGCGTAGATAATTTCCTGCTACAGAAAGCAGGATGTGTTATTCTACCAACACTTCTACCAGTTCTGATTGAGGAGAAGTGTGAAGAAAATGGAGAAACAAATTAAATTTATTTTAACATTATAATGTGGTTACATAGT... |
Task1_train_9777 | A genetic alteration is present in GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1) on Chromosome 5. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Idiopathic generalized epilepsy | TATTCTTCTTTTAATTAACTTTCAGTTTGGTGGGAGGAATATATGTATGTAGTTAAATAACTAAAATGCAAAGTATGATATATTATAAATATATACAAGAGATATAAAGTTGAACACAGTAAGTGTTTAGTAAAGGGCAGGTGCTATTATCAATAACAGTTAATAATGAAAGCAGGCATAAGTGCGTAGATAATTTCCTGCTACAGAAAGCAGGATGTGTTATTCTACCAACACTTCTACCAGTTCTGATTGAGGAGAAGTGTGAAGAAAATGGAGAAACAAATTAAATTTATTTTAACATTATAATGTGGTTACATAGT... | TATTCTTCTTTTAATTAACTTTCAGTTTGGTGGGAGGAATATATGTATGTAGTTAAATAACTAAAATGCAAAGTATGATATATTATAAATATATACAAGAGATATAAAGTTGAACACAGTAAGTGTTTAGTAAAGGGCAGGTGCTATTATCAATAACAGTTAATAATGAAAGCAGGCATAAGTGCGTAGATAATTTCCTGCTACAGAAAGCAGGATGTGTTATTCTACCAACACTTCTACCAGTTCTGATTGAGGAGAAGTGTGAAGAAAATGGAGAAACAAATTAAATTTATTTTAACATTATAATGTGGTTACATAGT... |
Task1_train_9778 | A mutation found in GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1) on Chromosome 5 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Epilepsy, childhood absence 4 | TATTCTTCTTTTAATTAACTTTCAGTTTGGTGGGAGGAATATATGTATGTAGTTAAATAACTAAAATGCAAAGTATGATATATTATAAATATATACAAGAGATATAAAGTTGAACACAGTAAGTGTTTAGTAAAGGGCAGGTGCTATTATCAATAACAGTTAATAATGAAAGCAGGCATAAGTGCGTAGATAATTTCCTGCTACAGAAAGCAGGATGTGTTATTCTACCAACACTTCTACCAGTTCTGATTGAGGAGAAGTGTGAAGAAAATGGAGAAACAAATTAAATTTATTTTAACATTATAATGTGGTTACATAGT... | TATTCTTCTTTTAATTAACTTTCAGTTTGGTGGGAGGAATATATGTATGTAGTTAAATAACTAAAATGCAAAGTATGATATATTATAAATATATACAAGAGATATAAAGTTGAACACAGTAAGTGTTTAGTAAAGGGCAGGTGCTATTATCAATAACAGTTAATAATGAAAGCAGGCATAAGTGCGTAGATAATTTCCTGCTACAGAAAGCAGGATGTGTTATTCTACCAACACTTCTACCAGTTCTGATTGAGGAGAAGTGTGAAGAAAATGGAGAAACAAATTAAATTTATTTTAACATTATAATGTGGTTACATAGT... |
Task1_train_9779 | The gene GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Developmental and epileptic encephalopathy, 19 | TGGTTTTCCATGCTGTCTCTCATCTGGAGGCAGTGTGGTCACTTAATTTTGCTGCCAAATACATCCAAGTTTGAGATTCAGTCTCGCCACCTACCAGCTGCATGGCATTGGCAAATTTACTTCCTCTTATGGAGCTTCAGTTGTCTGTTAAATGAAAGTACAAGGAAAGTAAAGTAATGCTGTTTTTTAAAAATTTAGCAAATAAAAAAAATATACATTGTCAGGTTCCATACTTGTAACTTAAAAGCTGTTCAACAAATCTGTGTTCTTTTCTCTTTTCCTATAACAGGAATTGTATTTTCCTATGGCACAAATTGTAT... | TGGTTTTCCATGCTGTCTCTCATCTGGAGGCAGTGTGGTCACTTAATTTTGCTGCCAAATACATCCAAGTTTGAGATTCAGTCTCGCCACCTACCAGCTGCATGGCATTGGCAAATTTACTTCCTCTTATGGAGCTTCAGTTGTCTGTTAAATGAAAGTACAAGGAAAGTAAAGTAATGCTGTTTTTTAAAAATTTAGCAAATAAAAAAAATATACATTGTCAGGTTCCATACTTGTAACTTAAAAGCTGTTCAACAAATCTGTGTTCTTTTCTCTTTTCCTATAACAGGAATTGTATTTTCCTATGGCACAAATTGTAT... |
Task1_train_9780 | A variant found in Chromosome 5 affects GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Epilepsy, childhood absence 4 | TTTCCATGCTGTCTCTCATCTGGAGGCAGTGTGGTCACTTAATTTTGCTGCCAAATACATCCAAGTTTGAGATTCAGTCTCGCCACCTACCAGCTGCATGGCATTGGCAAATTTACTTCCTCTTATGGAGCTTCAGTTGTCTGTTAAATGAAAGTACAAGGAAAGTAAAGTAATGCTGTTTTTTAAAAATTTAGCAAATAAAAAAAATATACATTGTCAGGTTCCATACTTGTAACTTAAAAGCTGTTCAACAAATCTGTGTTCTTTTCTCTTTTCCTATAACAGGAATTGTATTTTCCTATGGCACAAATTGTATCTTC... | TTTCCATGCTGTCTCTCATCTGGAGGCAGTGTGGTCACTTAATTTTGCTGCCAAATACATCCAAGTTTGAGATTCAGTCTCGCCACCTACCAGCTGCATGGCATTGGCAAATTTACTTCCTCTTATGGAGCTTCAGTTGTCTGTTAAATGAAAGTACAAGGAAAGTAAAGTAATGCTGTTTTTTAAAAATTTAGCAAATAAAAAAAATATACATTGTCAGGTTCCATACTTGTAACTTAAAAGCTGTTCAACAAATCTGTGTTCTTTTCTCTTTTCCTATAACAGGAATTGTATTTTCCTATGGCACAAATTGTATCTTC... |
Task1_train_9781 | Located on Chromosome 5, this mutation impacts GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Idiopathic generalized epilepsy | TTTCCATGCTGTCTCTCATCTGGAGGCAGTGTGGTCACTTAATTTTGCTGCCAAATACATCCAAGTTTGAGATTCAGTCTCGCCACCTACCAGCTGCATGGCATTGGCAAATTTACTTCCTCTTATGGAGCTTCAGTTGTCTGTTAAATGAAAGTACAAGGAAAGTAAAGTAATGCTGTTTTTTAAAAATTTAGCAAATAAAAAAAATATACATTGTCAGGTTCCATACTTGTAACTTAAAAGCTGTTCAACAAATCTGTGTTCTTTTCTCTTTTCCTATAACAGGAATTGTATTTTCCTATGGCACAAATTGTATCTTC... | TTTCCATGCTGTCTCTCATCTGGAGGCAGTGTGGTCACTTAATTTTGCTGCCAAATACATCCAAGTTTGAGATTCAGTCTCGCCACCTACCAGCTGCATGGCATTGGCAAATTTACTTCCTCTTATGGAGCTTCAGTTGTCTGTTAAATGAAAGTACAAGGAAAGTAAAGTAATGCTGTTTTTTAAAAATTTAGCAAATAAAAAAAATATACATTGTCAGGTTCCATACTTGTAACTTAAAAGCTGTTCAACAAATCTGTGTTCTTTTCTCTTTTCCTATAACAGGAATTGTATTTTCCTATGGCACAAATTGTATCTTC... |
Task1_train_9782 | A variant affecting Chromosome 5, within the gene GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Epilepsy, idiopathic generalized, susceptibility to, 13 | TTTCCATGCTGTCTCTCATCTGGAGGCAGTGTGGTCACTTAATTTTGCTGCCAAATACATCCAAGTTTGAGATTCAGTCTCGCCACCTACCAGCTGCATGGCATTGGCAAATTTACTTCCTCTTATGGAGCTTCAGTTGTCTGTTAAATGAAAGTACAAGGAAAGTAAAGTAATGCTGTTTTTTAAAAATTTAGCAAATAAAAAAAATATACATTGTCAGGTTCCATACTTGTAACTTAAAAGCTGTTCAACAAATCTGTGTTCTTTTCTCTTTTCCTATAACAGGAATTGTATTTTCCTATGGCACAAATTGTATCTTC... | TTTCCATGCTGTCTCTCATCTGGAGGCAGTGTGGTCACTTAATTTTGCTGCCAAATACATCCAAGTTTGAGATTCAGTCTCGCCACCTACCAGCTGCATGGCATTGGCAAATTTACTTCCTCTTATGGAGCTTCAGTTGTCTGTTAAATGAAAGTACAAGGAAAGTAAAGTAATGCTGTTTTTTAAAAATTTAGCAAATAAAAAAAATATACATTGTCAGGTTCCATACTTGTAACTTAAAAGCTGTTCAACAAATCTGTGTTCTTTTCTCTTTTCCTATAACAGGAATTGTATTTTCCTATGGCACAAATTGTATCTTC... |
Task1_train_9783 | This variant impacts the gene GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1) on Chromosome 5. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | TCTGGAGGCAGTGTGGTCACTTAATTTTGCTGCCAAATACATCCAAGTTTGAGATTCAGTCTCGCCACCTACCAGCTGCATGGCATTGGCAAATTTACTTCCTCTTATGGAGCTTCAGTTGTCTGTTAAATGAAAGTACAAGGAAAGTAAAGTAATGCTGTTTTTTAAAAATTTAGCAAATAAAAAAAATATACATTGTCAGGTTCCATACTTGTAACTTAAAAGCTGTTCAACAAATCTGTGTTCTTTTCTCTTTTCCTATAACAGGAATTGTATTTTCCTATGGCACAAATTGTATCTTCATGTTAATCTTCTCAACT... | TCTGGAGGCAGTGTGGTCACTTAATTTTGCTGCCAAATACATCCAAGTTTGAGATTCAGTCTCGCCACCTACCAGCTGCATGGCATTGGCAAATTTACTTCCTCTTATGGAGCTTCAGTTGTCTGTTAAATGAAAGTACAAGGAAAGTAAAGTAATGCTGTTTTTTAAAAATTTAGCAAATAAAAAAAATATACATTGTCAGGTTCCATACTTGTAACTTAAAAGCTGTTCAACAAATCTGTGTTCTTTTCTCTTTTCCTATAACAGGAATTGTATTTTCCTATGGCACAAATTGTATCTTCATGTTAATCTTCTCAACT... |
Task1_train_9784 | The gene GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Developmental and epileptic encephalopathy, 19 | TAATTTTGCTGCCAAATACATCCAAGTTTGAGATTCAGTCTCGCCACCTACCAGCTGCATGGCATTGGCAAATTTACTTCCTCTTATGGAGCTTCAGTTGTCTGTTAAATGAAAGTACAAGGAAAGTAAAGTAATGCTGTTTTTTAAAAATTTAGCAAATAAAAAAAATATACATTGTCAGGTTCCATACTTGTAACTTAAAAGCTGTTCAACAAATCTGTGTTCTTTTCTCTTTTCCTATAACAGGAATTGTATTTTCCTATGGCACAAATTGTATCTTCATGTTAATCTTCTCAACTGCTCTTAATTTATGGACACAT... | TAATTTTGCTGCCAAATACATCCAAGTTTGAGATTCAGTCTCGCCACCTACCAGCTGCATGGCATTGGCAAATTTACTTCCTCTTATGGAGCTTCAGTTGTCTGTTAAATGAAAGTACAAGGAAAGTAAAGTAATGCTGTTTTTTAAAAATTTAGCAAATAAAAAAAATATACATTGTCAGGTTCCATACTTGTAACTTAAAAGCTGTTCAACAAATCTGTGTTCTTTTCTCTTTTCCTATAACAGGAATTGTATTTTCCTATGGCACAAATTGTATCTTCATGTTAATCTTCTCAACTGCTCTTAATTTATGGACACAT... |
Task1_train_9785 | Here’s a variant in GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Developmental and epileptic encephalopathy, 19 | ATACATCCAAGTTTGAGATTCAGTCTCGCCACCTACCAGCTGCATGGCATTGGCAAATTTACTTCCTCTTATGGAGCTTCAGTTGTCTGTTAAATGAAAGTACAAGGAAAGTAAAGTAATGCTGTTTTTTAAAAATTTAGCAAATAAAAAAAATATACATTGTCAGGTTCCATACTTGTAACTTAAAAGCTGTTCAACAAATCTGTGTTCTTTTCTCTTTTCCTATAACAGGAATTGTATTTTCCTATGGCACAAATTGTATCTTCATGTTAATCTTCTCAACTGCTCTTAATTTATGGACACATTTGGTTTAAAAATAC... | ATACATCCAAGTTTGAGATTCAGTCTCGCCACCTACCAGCTGCATGGCATTGGCAAATTTACTTCCTCTTATGGAGCTTCAGTTGTCTGTTAAATGAAAGTACAAGGAAAGTAAAGTAATGCTGTTTTTTAAAAATTTAGCAAATAAAAAAAATATACATTGTCAGGTTCCATACTTGTAACTTAAAAGCTGTTCAACAAATCTGTGTTCTTTTCTCTTTTCCTATAACAGGAATTGTATTTTCCTATGGCACAAATTGTATCTTCATGTTAATCTTCTCAACTGCTCTTAATTTATGGACACATTTGGTTTAAAAATAC... |
Task1_train_9786 | Gene GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1), found on Chromosome 5, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Developmental and epileptic encephalopathy, 19 | TCAGTTGTCTGTTAAATGAAAGTACAAGGAAAGTAAAGTAATGCTGTTTTTTAAAAATTTAGCAAATAAAAAAAATATACATTGTCAGGTTCCATACTTGTAACTTAAAAGCTGTTCAACAAATCTGTGTTCTTTTCTCTTTTCCTATAACAGGAATTGTATTTTCCTATGGCACAAATTGTATCTTCATGTTAATCTTCTCAACTGCTCTTAATTTATGGACACATTTGGTTTAAAAATACCCGTTACCACATTACTTCTGAGAACTGACTACATAAACCAAGATTTTTTTAAAAAAATTGAATTTATTGTAGTAGGGA... | TCAGTTGTCTGTTAAATGAAAGTACAAGGAAAGTAAAGTAATGCTGTTTTTTAAAAATTTAGCAAATAAAAAAAATATACATTGTCAGGTTCCATACTTGTAACTTAAAAGCTGTTCAACAAATCTGTGTTCTTTTCTCTTTTCCTATAACAGGAATTGTATTTTCCTATGGCACAAATTGTATCTTCATGTTAATCTTCTCAACTGCTCTTAATTTATGGACACATTTGGTTTAAAAATACCCGTTACCACATTACTTCTGAGAACTGACTACATAAACCAAGATTTTTTTAAAAAAATTGAATTTATTGTAGTAGGGA... |
Task1_train_9787 | This mutation is located in gene GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1) on Chromosome 5. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Developmental and epileptic encephalopathy, 19 | AGTACAAGGAAAGTAAAGTAATGCTGTTTTTTAAAAATTTAGCAAATAAAAAAAATATACATTGTCAGGTTCCATACTTGTAACTTAAAAGCTGTTCAACAAATCTGTGTTCTTTTCTCTTTTCCTATAACAGGAATTGTATTTTCCTATGGCACAAATTGTATCTTCATGTTAATCTTCTCAACTGCTCTTAATTTATGGACACATTTGGTTTAAAAATACCCGTTACCACATTACTTCTGAGAACTGACTACATAAACCAAGATTTTTTTAAAAAAATTGAATTTATTGTAGTAGGGATTTATCAAAAAGGACTAAAG... | AGTACAAGGAAAGTAAAGTAATGCTGTTTTTTAAAAATTTAGCAAATAAAAAAAATATACATTGTCAGGTTCCATACTTGTAACTTAAAAGCTGTTCAACAAATCTGTGTTCTTTTCTCTTTTCCTATAACAGGAATTGTATTTTCCTATGGCACAAATTGTATCTTCATGTTAATCTTCTCAACTGCTCTTAATTTATGGACACATTTGGTTTAAAAATACCCGTTACCACATTACTTCTGAGAACTGACTACATAAACCAAGATTTTTTTAAAAAAATTGAATTTATTGTAGTAGGGATTTATCAAAAAGGACTAAAG... |
Task1_train_9788 | This mutation occurs in GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2) on Chromosome 5. Does this change lead to a known medical condition, or is it benign? | Pathogenic; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 | AAGAGAGAGAGAGAGATTTTTTGAAAAGGCACTTTTGCAAGAACAATTTAAACCGTAATATATTCTATTATGGCATCTGACGAACCTACCATATCCTTTTCTCATGAGTTATTGGAGGGATTTGAAAATTACTTTACCAGAGAGCTTTTTTATTTTCTTTCCCTAAACCAGTAAGATTTGGGTCAGAGGATTAAAGCTCTATTAGGCAGAGTTTAGCAGTGCTCTGGAGAAATGATGAATTGAAGCCCAAGAGGGATTTTTTTTCTGGCAGCACACTGGCCTCTGCTTGCGTGGAGGCTTTTCTCTCTGAGAGCTGACAG... | AAGAGAGAGAGAGAGATTTTTTGAAAAGGCACTTTTGCAAGAACAATTTAAACCGTAATATATTCTATTATGGCATCTGACGAACCTACCATATCCTTTTCTCATGAGTTATTGGAGGGATTTGAAAATTACTTTACCAGAGAGCTTTTTTATTTTCTTTCCCTAAACCAGTAAGATTTGGGTCAGAGGATTAAAGCTCTATTAGGCAGAGTTTAGCAGTGCTCTGGAGAAATGATGAATTGAAGCCCAAGAGGGATTTTTTTTCTGGCAGCACACTGGCCTCTGCTTGCGTGGAGGCTTTTCTCTCTGAGAGCTGACAG... |
Task1_train_9789 | Gene GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Febrile seizures, familial, 8 | AAGAGAGAGAGAGAGATTTTTTGAAAAGGCACTTTTGCAAGAACAATTTAAACCGTAATATATTCTATTATGGCATCTGACGAACCTACCATATCCTTTTCTCATGAGTTATTGGAGGGATTTGAAAATTACTTTACCAGAGAGCTTTTTTATTTTCTTTCCCTAAACCAGTAAGATTTGGGTCAGAGGATTAAAGCTCTATTAGGCAGAGTTTAGCAGTGCTCTGGAGAAATGATGAATTGAAGCCCAAGAGGGATTTTTTTTCTGGCAGCACACTGGCCTCTGCTTGCGTGGAGGCTTTTCTCTCTGAGAGCTGACAG... | AAGAGAGAGAGAGAGATTTTTTGAAAAGGCACTTTTGCAAGAACAATTTAAACCGTAATATATTCTATTATGGCATCTGACGAACCTACCATATCCTTTTCTCATGAGTTATTGGAGGGATTTGAAAATTACTTTACCAGAGAGCTTTTTTATTTTCTTTCCCTAAACCAGTAAGATTTGGGTCAGAGGATTAAAGCTCTATTAGGCAGAGTTTAGCAGTGCTCTGGAGAAATGATGAATTGAAGCCCAAGAGGGATTTTTTTTCTGGCAGCACACTGGCCTCTGCTTGCGTGGAGGCTTTTCTCTCTGAGAGCTGACAG... |
Task1_train_9790 | The following genetic variant occurs in GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2) on Chromosome 5. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Febrile seizures, familial, 8 | TGCTATGCTGTTGAAATTCAACAATCGGTGTTTACTTGCCAAGTGCTACTTACTACAAAATAGGATATAGTACTCAACTACTTATTAGAACATTGATAGTTTGGTTCAAATCAGAAATGTTTCTCAGATAAAATAGTGTGTCAGATGTAATAATAAATGTAATTCTGTTCTTATGTAACACTTTCTACCCAAATGTGAAATACAAAACTAGACTGGAGTCCAAAATATGATATAATAGAGAATGTAAAATAGAGTAGAGCAGAATGGAGTACAACATAACATAAGGTAATATAGTATTCTATATTATACAATATTATATA... | TGCTATGCTGTTGAAATTCAACAATCGGTGTTTACTTGCCAAGTGCTACTTACTACAAAATAGGATATAGTACTCAACTACTTATTAGAACATTGATAGTTTGGTTCAAATCAGAAATGTTTCTCAGATAAAATAGTGTGTCAGATGTAATAATAAATGTAATTCTGTTCTTATGTAACACTTTCTACCCAAATGTGAAATACAAAACTAGACTGGAGTCCAAAATATGATATAATAGAGAATGTAAAATAGAGTAGAGCAGAATGGAGTACAACATAACATAAGGTAATATAGTATTCTATATTATACAATATTATATA... |
Task1_train_9791 | The gene GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 | CAATTGCTTCTTTTACATTTTTTGTCTGCCAGTTGTACATATTGGACAGAATAAAAATCTGATTATAGATTTTAAAAGTATGTTTGTAGAAATGTAATTTCTCAACCAGGGAGTCCACCAAGTCATAGTAATCACAGTTTGAAAAACGTTGATGATCAGAGAAGTAATCACCTGTTTATCACTTCATCAATACCAGAGGAAACCAGAGGAAAAATATCACTGGACATCATATTTACCTAGAAAAATTCTCATTATAAAACTTATTTCATGTTTTCCTGAATCCAAGAATGAAATATATTTAATTATAAAGTTAAAGCTTC... | CAATTGCTTCTTTTACATTTTTTGTCTGCCAGTTGTACATATTGGACAGAATAAAAATCTGATTATAGATTTTAAAAGTATGTTTGTAGAAATGTAATTTCTCAACCAGGGAGTCCACCAAGTCATAGTAATCACAGTTTGAAAAACGTTGATGATCAGAGAAGTAATCACCTGTTTATCACTTCATCAATACCAGAGGAAACCAGAGGAAAAATATCACTGGACATCATATTTACCTAGAAAAATTCTCATTATAAAACTTATTTCATGTTTTCCTGAATCCAAGAATGAAATATATTTAATTATAAAGTTAAAGCTTC... |
Task1_train_9792 | Consider this mutation in GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2) on Chromosome 5. Is this a benign change or a disease-causing variant? | Pathogenic; Febrile seizures, familial, 8 | CAATTGCTTCTTTTACATTTTTTGTCTGCCAGTTGTACATATTGGACAGAATAAAAATCTGATTATAGATTTTAAAAGTATGTTTGTAGAAATGTAATTTCTCAACCAGGGAGTCCACCAAGTCATAGTAATCACAGTTTGAAAAACGTTGATGATCAGAGAAGTAATCACCTGTTTATCACTTCATCAATACCAGAGGAAACCAGAGGAAAAATATCACTGGACATCATATTTACCTAGAAAAATTCTCATTATAAAACTTATTTCATGTTTTCCTGAATCCAAGAATGAAATATATTTAATTATAAAGTTAAAGCTTC... | CAATTGCTTCTTTTACATTTTTTGTCTGCCAGTTGTACATATTGGACAGAATAAAAATCTGATTATAGATTTTAAAAGTATGTTTGTAGAAATGTAATTTCTCAACCAGGGAGTCCACCAAGTCATAGTAATCACAGTTTGAAAAACGTTGATGATCAGAGAAGTAATCACCTGTTTATCACTTCATCAATACCAGAGGAAACCAGAGGAAAAATATCACTGGACATCATATTTACCTAGAAAAATTCTCATTATAAAACTTATTTCATGTTTTCCTGAATCCAAGAATGAAATATATTTAATTATAAAGTTAAAGCTTC... |
Task1_train_9793 | This variant impacts the gene GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2) on Chromosome 5. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | AATTGCTACTTATTGATCTCTGGGAGGAAACTGATGTCCCATTGGAAGCCTAATTCCCTGATCAGTGCTAGGTCATGATCACTACCTCAGCCAGGTCTGACTTAAACAAGTAACTGTATGCCAATCTAACAAAAGGCAGTGTTAAGAGGCATTCAAAACCCCACTTAGGAAATATTGCAAGGTTAGGGGACAGTCTACTCCCTCAAAGAGCAGCCAATAAAGGCCTTTCTATTTCAGCAGCTTTGAGGGGTATGGGGTGAAGCTTGAGAGTGGGAAAGAAAAACTAGACTGAGTAGTAATAACTCACCCCGCTAATTCAA... | AATTGCTACTTATTGATCTCTGGGAGGAAACTGATGTCCCATTGGAAGCCTAATTCCCTGATCAGTGCTAGGTCATGATCACTACCTCAGCCAGGTCTGACTTAAACAAGTAACTGTATGCCAATCTAACAAAAGGCAGTGTTAAGAGGCATTCAAAACCCCACTTAGGAAATATTGCAAGGTTAGGGGACAGTCTACTCCCTCAAAGAGCAGCCAATAAAGGCCTTTCTATTTCAGCAGCTTTGAGGGGTATGGGGTGAAGCTTGAGAGTGGGAAAGAAAAACTAGACTGAGTAGTAATAACTCACCCCGCTAATTCAA... |
Task1_train_9794 | This mutation is located in gene GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2) on Chromosome 5. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 | AATTGCTACTTATTGATCTCTGGGAGGAAACTGATGTCCCATTGGAAGCCTAATTCCCTGATCAGTGCTAGGTCATGATCACTACCTCAGCCAGGTCTGACTTAAACAAGTAACTGTATGCCAATCTAACAAAAGGCAGTGTTAAGAGGCATTCAAAACCCCACTTAGGAAATATTGCAAGGTTAGGGGACAGTCTACTCCCTCAAAGAGCAGCCAATAAAGGCCTTTCTATTTCAGCAGCTTTGAGGGGTATGGGGTGAAGCTTGAGAGTGGGAAAGAAAAACTAGACTGAGTAGTAATAACTCACCCCGCTAATTCAA... | AATTGCTACTTATTGATCTCTGGGAGGAAACTGATGTCCCATTGGAAGCCTAATTCCCTGATCAGTGCTAGGTCATGATCACTACCTCAGCCAGGTCTGACTTAAACAAGTAACTGTATGCCAATCTAACAAAAGGCAGTGTTAAGAGGCATTCAAAACCCCACTTAGGAAATATTGCAAGGTTAGGGGACAGTCTACTCCCTCAAAGAGCAGCCAATAAAGGCCTTTCTATTTCAGCAGCTTTGAGGGGTATGGGGTGAAGCTTGAGAGTGGGAAAGAAAAACTAGACTGAGTAGTAATAACTCACCCCGCTAATTCAA... |
Task1_train_9795 | Given this context: Chromosome 5, gene GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Febrile seizures, familial, 8 | AATTGCTACTTATTGATCTCTGGGAGGAAACTGATGTCCCATTGGAAGCCTAATTCCCTGATCAGTGCTAGGTCATGATCACTACCTCAGCCAGGTCTGACTTAAACAAGTAACTGTATGCCAATCTAACAAAAGGCAGTGTTAAGAGGCATTCAAAACCCCACTTAGGAAATATTGCAAGGTTAGGGGACAGTCTACTCCCTCAAAGAGCAGCCAATAAAGGCCTTTCTATTTCAGCAGCTTTGAGGGGTATGGGGTGAAGCTTGAGAGTGGGAAAGAAAAACTAGACTGAGTAGTAATAACTCACCCCGCTAATTCAA... | AATTGCTACTTATTGATCTCTGGGAGGAAACTGATGTCCCATTGGAAGCCTAATTCCCTGATCAGTGCTAGGTCATGATCACTACCTCAGCCAGGTCTGACTTAAACAAGTAACTGTATGCCAATCTAACAAAAGGCAGTGTTAAGAGGCATTCAAAACCCCACTTAGGAAATATTGCAAGGTTAGGGGACAGTCTACTCCCTCAAAGAGCAGCCAATAAAGGCCTTTCTATTTCAGCAGCTTTGAGGGGTATGGGGTGAAGCTTGAGAGTGGGAAAGAAAAACTAGACTGAGTAGTAATAACTCACCCCGCTAATTCAA... |
Task1_train_9796 | A change on Chromosome 5 affects gene GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 | AATTGCTACTTATTGATCTCTGGGAGGAAACTGATGTCCCATTGGAAGCCTAATTCCCTGATCAGTGCTAGGTCATGATCACTACCTCAGCCAGGTCTGACTTAAACAAGTAACTGTATGCCAATCTAACAAAAGGCAGTGTTAAGAGGCATTCAAAACCCCACTTAGGAAATATTGCAAGGTTAGGGGACAGTCTACTCCCTCAAAGAGCAGCCAATAAAGGCCTTTCTATTTCAGCAGCTTTGAGGGGTATGGGGTGAAGCTTGAGAGTGGGAAAGAAAAACTAGACTGAGTAGTAATAACTCACCCCGCTAATTCAA... | AATTGCTACTTATTGATCTCTGGGAGGAAACTGATGTCCCATTGGAAGCCTAATTCCCTGATCAGTGCTAGGTCATGATCACTACCTCAGCCAGGTCTGACTTAAACAAGTAACTGTATGCCAATCTAACAAAAGGCAGTGTTAAGAGGCATTCAAAACCCCACTTAGGAAATATTGCAAGGTTAGGGGACAGTCTACTCCCTCAAAGAGCAGCCAATAAAGGCCTTTCTATTTCAGCAGCTTTGAGGGGTATGGGGTGAAGCTTGAGAGTGGGAAAGAAAAACTAGACTGAGTAGTAATAACTCACCCCGCTAATTCAA... |
Task1_train_9797 | The following genetic variant occurs in GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2) on Chromosome 5. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Developmental and epileptic encephalopathy, 74 | AATTGCTACTTATTGATCTCTGGGAGGAAACTGATGTCCCATTGGAAGCCTAATTCCCTGATCAGTGCTAGGTCATGATCACTACCTCAGCCAGGTCTGACTTAAACAAGTAACTGTATGCCAATCTAACAAAAGGCAGTGTTAAGAGGCATTCAAAACCCCACTTAGGAAATATTGCAAGGTTAGGGGACAGTCTACTCCCTCAAAGAGCAGCCAATAAAGGCCTTTCTATTTCAGCAGCTTTGAGGGGTATGGGGTGAAGCTTGAGAGTGGGAAAGAAAAACTAGACTGAGTAGTAATAACTCACCCCGCTAATTCAA... | AATTGCTACTTATTGATCTCTGGGAGGAAACTGATGTCCCATTGGAAGCCTAATTCCCTGATCAGTGCTAGGTCATGATCACTACCTCAGCCAGGTCTGACTTAAACAAGTAACTGTATGCCAATCTAACAAAAGGCAGTGTTAAGAGGCATTCAAAACCCCACTTAGGAAATATTGCAAGGTTAGGGGACAGTCTACTCCCTCAAAGAGCAGCCAATAAAGGCCTTTCTATTTCAGCAGCTTTGAGGGGTATGGGGTGAAGCTTGAGAGTGGGAAAGAAAAACTAGACTGAGTAGTAATAACTCACCCCGCTAATTCAA... |
Task1_train_9798 | This variant affects gene GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2) located on Chromosome 5. Evaluate its biological effect and specify any disease association. | Pathogenic; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 | ATGTCCCATTGGAAGCCTAATTCCCTGATCAGTGCTAGGTCATGATCACTACCTCAGCCAGGTCTGACTTAAACAAGTAACTGTATGCCAATCTAACAAAAGGCAGTGTTAAGAGGCATTCAAAACCCCACTTAGGAAATATTGCAAGGTTAGGGGACAGTCTACTCCCTCAAAGAGCAGCCAATAAAGGCCTTTCTATTTCAGCAGCTTTGAGGGGTATGGGGTGAAGCTTGAGAGTGGGAAAGAAAAACTAGACTGAGTAGTAATAACTCACCCCGCTAATTCAATCTTCTCTGCATGAGGCTTGTAGGGCACCTTAT... | ATGTCCCATTGGAAGCCTAATTCCCTGATCAGTGCTAGGTCATGATCACTACCTCAGCCAGGTCTGACTTAAACAAGTAACTGTATGCCAATCTAACAAAAGGCAGTGTTAAGAGGCATTCAAAACCCCACTTAGGAAATATTGCAAGGTTAGGGGACAGTCTACTCCCTCAAAGAGCAGCCAATAAAGGCCTTTCTATTTCAGCAGCTTTGAGGGGTATGGGGTGAAGCTTGAGAGTGGGAAAGAAAAACTAGACTGAGTAGTAATAACTCACCCCGCTAATTCAATCTTCTCTGCATGAGGCTTGTAGGGCACCTTAT... |
Task1_train_9799 | This variant lies on Chromosome 5 and affects the gene GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Febrile seizures, familial, 8 | ATGTCCCATTGGAAGCCTAATTCCCTGATCAGTGCTAGGTCATGATCACTACCTCAGCCAGGTCTGACTTAAACAAGTAACTGTATGCCAATCTAACAAAAGGCAGTGTTAAGAGGCATTCAAAACCCCACTTAGGAAATATTGCAAGGTTAGGGGACAGTCTACTCCCTCAAAGAGCAGCCAATAAAGGCCTTTCTATTTCAGCAGCTTTGAGGGGTATGGGGTGAAGCTTGAGAGTGGGAAAGAAAAACTAGACTGAGTAGTAATAACTCACCCCGCTAATTCAATCTTCTCTGCATGAGGCTTGTAGGGCACCTTAT... | ATGTCCCATTGGAAGCCTAATTCCCTGATCAGTGCTAGGTCATGATCACTACCTCAGCCAGGTCTGACTTAAACAAGTAACTGTATGCCAATCTAACAAAAGGCAGTGTTAAGAGGCATTCAAAACCCCACTTAGGAAATATTGCAAGGTTAGGGGACAGTCTACTCCCTCAAAGAGCAGCCAATAAAGGCCTTTCTATTTCAGCAGCTTTGAGGGGTATGGGGTGAAGCTTGAGAGTGGGAAAGAAAAACTAGACTGAGTAGTAATAACTCACCCCGCTAATTCAATCTTCTCTGCATGAGGCTTGTAGGGCACCTTAT... |
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