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_1300 | Gene ABCA4 (ATP binding cassette subfamily A member 4), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | AACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCT... | AACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCT... |
Task1_train_1301 | Chromosome 1 houses a mutation in gene ABCA4 (ATP binding cassette subfamily A member 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Retinitis pigmentosa 19 | CTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCC... | CTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCC... |
Task1_train_1302 | The following genetic variant occurs in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | GTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATC... | GTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATC... |
Task1_train_1303 | Given this context: Chromosome 1, gene ABCA4 (ATP binding cassette subfamily A member 4) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | AGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCA... | AGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCA... |
Task1_train_1304 | Chromosome 1 houses a mutation in gene ABCA4 (ATP binding cassette subfamily A member 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | AAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAG... | AAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAG... |
Task1_train_1305 | This gene mutation involves ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Severe early-childhood-onset retinal dystrophy | TCCCTGATTCTAAATAACTCCAGTTTAGCTGCCCAGCCAGAGATGGACATGTCAACAGCCAACTCTAATCTATCTGGGAGAGGGGTCTGAGAGAGGTGTGAAGAGAGGGCCAGGAAGCACAGAGGAGTGAATGACTAAACCTCCATCAAAGCAGAAGTGACATTTAAGAGCTGAGTGCTGAGTCTCAAAGAATGAATGAGTAGAAGCTCAGCAGATGAGGAAAGGGACAGTCATTTCAGGCATTGGTGGACATACACTTTTCTACCTTGTGTTTCTTCTTTTGGGGAAACATCTTCCTCCACTTCACAGTAATCCTGCTC... | TCCCTGATTCTAAATAACTCCAGTTTAGCTGCCCAGCCAGAGATGGACATGTCAACAGCCAACTCTAATCTATCTGGGAGAGGGGTCTGAGAGAGGTGTGAAGAGAGGGCCAGGAAGCACAGAGGAGTGAATGACTAAACCTCCATCAAAGCAGAAGTGACATTTAAGAGCTGAGTGCTGAGTCTCAAAGAATGAATGAGTAGAAGCTCAGCAGATGAGGAAAGGGACAGTCATTTCAGGCATTGGTGGACATACACTTTTCTACCTTGTGTTTCTTCTTTTGGGGAAACATCTTCCTCCACTTCACAGTAATCCTGCTC... |
Task1_train_1306 | The gene ABCA4 (ATP binding cassette subfamily A member 4), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not specified | GTCATGGAATGGGAATGCCTGTAGGCGTGAAAGGGCCAGGTAGCAGAGTTGAGCAAGGGCTGGGAAGGTGGGGTAGGACAGATTTGGAAGGGACCTGTGTTATTTGGGGGTCGAGTCATTAAGATTTTAAGTGAGAGAGCAACGTAAGCAGGTGTGCGGAATGTAACTCTGGTGCCAGTGTAGAGAAATGCCTGGGCCAACAGAGGCTGGACCCTGGATTCCAGGAAGGAAGCCCTTGGAATGGGCTGGCGCAGAGATGACAAGGCCTCTAGTCCTCAGAGAGCCTGGAATGCAAGAGGCAGAGTTGAGAGATATTTAGG... | GTCATGGAATGGGAATGCCTGTAGGCGTGAAAGGGCCAGGTAGCAGAGTTGAGCAAGGGCTGGGAAGGTGGGGTAGGACAGATTTGGAAGGGACCTGTGTTATTTGGGGGTCGAGTCATTAAGATTTTAAGTGAGAGAGCAACGTAAGCAGGTGTGCGGAATGTAACTCTGGTGCCAGTGTAGAGAAATGCCTGGGCCAACAGAGGCTGGACCCTGGATTCCAGGAAGGAAGCCCTTGGAATGGGCTGGCGCAGAGATGACAAGGCCTCTAGTCCTCAGAGAGCCTGGAATGCAAGAGGCAGAGTTGAGAGATATTTAGG... |
Task1_train_1307 | Given a variant located on Chromosome 1 and affecting ABCA4 (ATP binding cassette subfamily A member 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Severe early-childhood-onset retinal dystrophy | GTCATGGAATGGGAATGCCTGTAGGCGTGAAAGGGCCAGGTAGCAGAGTTGAGCAAGGGCTGGGAAGGTGGGGTAGGACAGATTTGGAAGGGACCTGTGTTATTTGGGGGTCGAGTCATTAAGATTTTAAGTGAGAGAGCAACGTAAGCAGGTGTGCGGAATGTAACTCTGGTGCCAGTGTAGAGAAATGCCTGGGCCAACAGAGGCTGGACCCTGGATTCCAGGAAGGAAGCCCTTGGAATGGGCTGGCGCAGAGATGACAAGGCCTCTAGTCCTCAGAGAGCCTGGAATGCAAGAGGCAGAGTTGAGAGATATTTAGG... | GTCATGGAATGGGAATGCCTGTAGGCGTGAAAGGGCCAGGTAGCAGAGTTGAGCAAGGGCTGGGAAGGTGGGGTAGGACAGATTTGGAAGGGACCTGTGTTATTTGGGGGTCGAGTCATTAAGATTTTAAGTGAGAGAGCAACGTAAGCAGGTGTGCGGAATGTAACTCTGGTGCCAGTGTAGAGAAATGCCTGGGCCAACAGAGGCTGGACCCTGGATTCCAGGAAGGAAGCCCTTGGAATGGGCTGGCGCAGAGATGACAAGGCCTCTAGTCCTCAGAGAGCCTGGAATGCAAGAGGCAGAGTTGAGAGATATTTAGG... |
Task1_train_1308 | A variant found in Chromosome 1 affects ABCA4 (ATP binding cassette subfamily A member 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Retinitis pigmentosa 19 | GTCATGGAATGGGAATGCCTGTAGGCGTGAAAGGGCCAGGTAGCAGAGTTGAGCAAGGGCTGGGAAGGTGGGGTAGGACAGATTTGGAAGGGACCTGTGTTATTTGGGGGTCGAGTCATTAAGATTTTAAGTGAGAGAGCAACGTAAGCAGGTGTGCGGAATGTAACTCTGGTGCCAGTGTAGAGAAATGCCTGGGCCAACAGAGGCTGGACCCTGGATTCCAGGAAGGAAGCCCTTGGAATGGGCTGGCGCAGAGATGACAAGGCCTCTAGTCCTCAGAGAGCCTGGAATGCAAGAGGCAGAGTTGAGAGATATTTAGG... | GTCATGGAATGGGAATGCCTGTAGGCGTGAAAGGGCCAGGTAGCAGAGTTGAGCAAGGGCTGGGAAGGTGGGGTAGGACAGATTTGGAAGGGACCTGTGTTATTTGGGGGTCGAGTCATTAAGATTTTAAGTGAGAGAGCAACGTAAGCAGGTGTGCGGAATGTAACTCTGGTGCCAGTGTAGAGAAATGCCTGGGCCAACAGAGGCTGGACCCTGGATTCCAGGAAGGAAGCCCTTGGAATGGGCTGGCGCAGAGATGACAAGGCCTCTAGTCCTCAGAGAGCCTGGAATGCAAGAGGCAGAGTTGAGAGATATTTAGG... |
Task1_train_1309 | Here is a genetic alteration in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Cone-rod dystrophy 3 | GTCATGGAATGGGAATGCCTGTAGGCGTGAAAGGGCCAGGTAGCAGAGTTGAGCAAGGGCTGGGAAGGTGGGGTAGGACAGATTTGGAAGGGACCTGTGTTATTTGGGGGTCGAGTCATTAAGATTTTAAGTGAGAGAGCAACGTAAGCAGGTGTGCGGAATGTAACTCTGGTGCCAGTGTAGAGAAATGCCTGGGCCAACAGAGGCTGGACCCTGGATTCCAGGAAGGAAGCCCTTGGAATGGGCTGGCGCAGAGATGACAAGGCCTCTAGTCCTCAGAGAGCCTGGAATGCAAGAGGCAGAGTTGAGAGATATTTAGG... | GTCATGGAATGGGAATGCCTGTAGGCGTGAAAGGGCCAGGTAGCAGAGTTGAGCAAGGGCTGGGAAGGTGGGGTAGGACAGATTTGGAAGGGACCTGTGTTATTTGGGGGTCGAGTCATTAAGATTTTAAGTGAGAGAGCAACGTAAGCAGGTGTGCGGAATGTAACTCTGGTGCCAGTGTAGAGAAATGCCTGGGCCAACAGAGGCTGGACCCTGGATTCCAGGAAGGAAGCCCTTGGAATGGGCTGGCGCAGAGATGACAAGGCCTCTAGTCCTCAGAGAGCCTGGAATGCAAGAGGCAGAGTTGAGAGATATTTAGG... |
Task1_train_1310 | Here is a genetic alteration in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Age related macular degeneration 2 | GTCATGGAATGGGAATGCCTGTAGGCGTGAAAGGGCCAGGTAGCAGAGTTGAGCAAGGGCTGGGAAGGTGGGGTAGGACAGATTTGGAAGGGACCTGTGTTATTTGGGGGTCGAGTCATTAAGATTTTAAGTGAGAGAGCAACGTAAGCAGGTGTGCGGAATGTAACTCTGGTGCCAGTGTAGAGAAATGCCTGGGCCAACAGAGGCTGGACCCTGGATTCCAGGAAGGAAGCCCTTGGAATGGGCTGGCGCAGAGATGACAAGGCCTCTAGTCCTCAGAGAGCCTGGAATGCAAGAGGCAGAGTTGAGAGATATTTAGG... | GTCATGGAATGGGAATGCCTGTAGGCGTGAAAGGGCCAGGTAGCAGAGTTGAGCAAGGGCTGGGAAGGTGGGGTAGGACAGATTTGGAAGGGACCTGTGTTATTTGGGGGTCGAGTCATTAAGATTTTAAGTGAGAGAGCAACGTAAGCAGGTGTGCGGAATGTAACTCTGGTGCCAGTGTAGAGAAATGCCTGGGCCAACAGAGGCTGGACCCTGGATTCCAGGAAGGAAGCCCTTGGAATGGGCTGGCGCAGAGATGACAAGGCCTCTAGTCCTCAGAGAGCCTGGAATGCAAGAGGCAGAGTTGAGAGATATTTAGG... |
Task1_train_1311 | This mutation is located in gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | TGAGCAAGGGCTGGGAAGGTGGGGTAGGACAGATTTGGAAGGGACCTGTGTTATTTGGGGGTCGAGTCATTAAGATTTTAAGTGAGAGAGCAACGTAAGCAGGTGTGCGGAATGTAACTCTGGTGCCAGTGTAGAGAAATGCCTGGGCCAACAGAGGCTGGACCCTGGATTCCAGGAAGGAAGCCCTTGGAATGGGCTGGCGCAGAGATGACAAGGCCTCTAGTCCTCAGAGAGCCTGGAATGCAAGAGGCAGAGTTGAGAGATATTTAGGAGGGAGAGGAGACAAAGCTTGGTAAGAGAAATCAGAAAGGCAGGCTCTG... | TGAGCAAGGGCTGGGAAGGTGGGGTAGGACAGATTTGGAAGGGACCTGTGTTATTTGGGGGTCGAGTCATTAAGATTTTAAGTGAGAGAGCAACGTAAGCAGGTGTGCGGAATGTAACTCTGGTGCCAGTGTAGAGAAATGCCTGGGCCAACAGAGGCTGGACCCTGGATTCCAGGAAGGAAGCCCTTGGAATGGGCTGGCGCAGAGATGACAAGGCCTCTAGTCCTCAGAGAGCCTGGAATGCAAGAGGCAGAGTTGAGAGATATTTAGGAGGGAGAGGAGACAAAGCTTGGTAAGAGAAATCAGAAAGGCAGGCTCTG... |
Task1_train_1312 | A mutation in ABCA4 (ATP binding cassette subfamily A member 4), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | CAAGGGCTGGGAAGGTGGGGTAGGACAGATTTGGAAGGGACCTGTGTTATTTGGGGGTCGAGTCATTAAGATTTTAAGTGAGAGAGCAACGTAAGCAGGTGTGCGGAATGTAACTCTGGTGCCAGTGTAGAGAAATGCCTGGGCCAACAGAGGCTGGACCCTGGATTCCAGGAAGGAAGCCCTTGGAATGGGCTGGCGCAGAGATGACAAGGCCTCTAGTCCTCAGAGAGCCTGGAATGCAAGAGGCAGAGTTGAGAGATATTTAGGAGGGAGAGGAGACAAAGCTTGGTAAGAGAAATCAGAAAGGCAGGCTCTGAACT... | CAAGGGCTGGGAAGGTGGGGTAGGACAGATTTGGAAGGGACCTGTGTTATTTGGGGGTCGAGTCATTAAGATTTTAAGTGAGAGAGCAACGTAAGCAGGTGTGCGGAATGTAACTCTGGTGCCAGTGTAGAGAAATGCCTGGGCCAACAGAGGCTGGACCCTGGATTCCAGGAAGGAAGCCCTTGGAATGGGCTGGCGCAGAGATGACAAGGCCTCTAGTCCTCAGAGAGCCTGGAATGCAAGAGGCAGAGTTGAGAGATATTTAGGAGGGAGAGGAGACAAAGCTTGGTAAGAGAAATCAGAAAGGCAGGCTCTGAACT... |
Task1_train_1313 | A mutation found in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Retinal dystrophy | GGGACCTGTGTTATTTGGGGGTCGAGTCATTAAGATTTTAAGTGAGAGAGCAACGTAAGCAGGTGTGCGGAATGTAACTCTGGTGCCAGTGTAGAGAAATGCCTGGGCCAACAGAGGCTGGACCCTGGATTCCAGGAAGGAAGCCCTTGGAATGGGCTGGCGCAGAGATGACAAGGCCTCTAGTCCTCAGAGAGCCTGGAATGCAAGAGGCAGAGTTGAGAGATATTTAGGAGGGAGAGGAGACAAAGCTTGGTAAGAGAAATCAGAAAGGCAGGCTCTGAACTCAGGCACCCCCAGAGCTGGATCCTGTTCGCTCCTCT... | GGGACCTGTGTTATTTGGGGGTCGAGTCATTAAGATTTTAAGTGAGAGAGCAACGTAAGCAGGTGTGCGGAATGTAACTCTGGTGCCAGTGTAGAGAAATGCCTGGGCCAACAGAGGCTGGACCCTGGATTCCAGGAAGGAAGCCCTTGGAATGGGCTGGCGCAGAGATGACAAGGCCTCTAGTCCTCAGAGAGCCTGGAATGCAAGAGGCAGAGTTGAGAGATATTTAGGAGGGAGAGGAGACAAAGCTTGGTAAGAGAAATCAGAAAGGCAGGCTCTGAACTCAGGCACCCCCAGAGCTGGATCCTGTTCGCTCCTCT... |
Task1_train_1314 | This variant lies on Chromosome 1 and affects the gene ABCA4 (ATP binding cassette subfamily A member 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Retinitis pigmentosa | GGGACCTGTGTTATTTGGGGGTCGAGTCATTAAGATTTTAAGTGAGAGAGCAACGTAAGCAGGTGTGCGGAATGTAACTCTGGTGCCAGTGTAGAGAAATGCCTGGGCCAACAGAGGCTGGACCCTGGATTCCAGGAAGGAAGCCCTTGGAATGGGCTGGCGCAGAGATGACAAGGCCTCTAGTCCTCAGAGAGCCTGGAATGCAAGAGGCAGAGTTGAGAGATATTTAGGAGGGAGAGGAGACAAAGCTTGGTAAGAGAAATCAGAAAGGCAGGCTCTGAACTCAGGCACCCCCAGAGCTGGATCCTGTTCGCTCCTCT... | GGGACCTGTGTTATTTGGGGGTCGAGTCATTAAGATTTTAAGTGAGAGAGCAACGTAAGCAGGTGTGCGGAATGTAACTCTGGTGCCAGTGTAGAGAAATGCCTGGGCCAACAGAGGCTGGACCCTGGATTCCAGGAAGGAAGCCCTTGGAATGGGCTGGCGCAGAGATGACAAGGCCTCTAGTCCTCAGAGAGCCTGGAATGCAAGAGGCAGAGTTGAGAGATATTTAGGAGGGAGAGGAGACAAAGCTTGGTAAGAGAAATCAGAAAGGCAGGCTCTGAACTCAGGCACCCCCAGAGCTGGATCCTGTTCGCTCCTCT... |
Task1_train_1315 | A mutation in ABCA4 (ATP binding cassette subfamily A member 4), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | AGTTTTTGGAGGGGACATGTTGAGGCTGATGTGCTTGTAGAACTTGAGGGCAGGAGTGTCCAGCAAGCAATGGACTGTGGGGTTGAGGGGACACTGGCCATAGATGGCCACTCAAGCAATGTCAGACAGAAGAGGGTTGAGGACAGACACAGATGCTTAAAGGGGGCTACAGGAGGAGGTGCCCAGCATGAGAAGTAGGAGATGTGAAGAGGAAACCGTTTTCAGCATAGATAAGTTTTAAGTATGGATAAGCTGTTAGAGAATGAGAACTGTACAGGGGATGTAGGGATTCTTGTTTCTTCAGTGGGGAAAATGAAAGC... | AGTTTTTGGAGGGGACATGTTGAGGCTGATGTGCTTGTAGAACTTGAGGGCAGGAGTGTCCAGCAAGCAATGGACTGTGGGGTTGAGGGGACACTGGCCATAGATGGCCACTCAAGCAATGTCAGACAGAAGAGGGTTGAGGACAGACACAGATGCTTAAAGGGGGCTACAGGAGGAGGTGCCCAGCATGAGAAGTAGGAGATGTGAAGAGGAAACCGTTTTCAGCATAGATAAGTTTTAAGTATGGATAAGCTGTTAGAGAATGAGAACTGTACAGGGGATGTAGGGATTCTTGTTTCTTCAGTGGGGAAAATGAAAGC... |
Task1_train_1316 | Gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | TTGGAGGGGACATGTTGAGGCTGATGTGCTTGTAGAACTTGAGGGCAGGAGTGTCCAGCAAGCAATGGACTGTGGGGTTGAGGGGACACTGGCCATAGATGGCCACTCAAGCAATGTCAGACAGAAGAGGGTTGAGGACAGACACAGATGCTTAAAGGGGGCTACAGGAGGAGGTGCCCAGCATGAGAAGTAGGAGATGTGAAGAGGAAACCGTTTTCAGCATAGATAAGTTTTAAGTATGGATAAGCTGTTAGAGAATGAGAACTGTACAGGGGATGTAGGGATTCTTGTTTCTTCAGTGGGGAAAATGAAAGCTTAAA... | TTGGAGGGGACATGTTGAGGCTGATGTGCTTGTAGAACTTGAGGGCAGGAGTGTCCAGCAAGCAATGGACTGTGGGGTTGAGGGGACACTGGCCATAGATGGCCACTCAAGCAATGTCAGACAGAAGAGGGTTGAGGACAGACACAGATGCTTAAAGGGGGCTACAGGAGGAGGTGCCCAGCATGAGAAGTAGGAGATGTGAAGAGGAAACCGTTTTCAGCATAGATAAGTTTTAAGTATGGATAAGCTGTTAGAGAATGAGAACTGTACAGGGGATGTAGGGATTCTTGTTTCTTCAGTGGGGAAAATGAAAGCTTAAA... |
Task1_train_1317 | Gene ABCA4 (ATP binding cassette subfamily A member 4), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | CCTGGGAAAAGGAAACAAGTGGAACTTTCTTGCCCCCACCGCTTCCTCCTCCCCTCCCCTCCCCATCCTCCAACCCCCCTTACTCTGATCATGTTCATCTGTGTGCTGTTGTCAAAGAAGTACCAGATCTGGGGCCCTACTTCTTCCCAGGCTTTGACCAACTTCCTAACGTGTTCCAGTTCTTCAAAAGTTGAGTTGGCCTAAAACCAGACAGAGATCAAGACAGAGACACGAACAGAGAGAAAAGTGAGAGAGAACTTTTGGTTGTGTCTTTTCTGCCCCTATCACTTAGTGTTAGGGAAAGGCTTTTCAAGGAAGTG... | CCTGGGAAAAGGAAACAAGTGGAACTTTCTTGCCCCCACCGCTTCCTCCTCCCCTCCCCTCCCCATCCTCCAACCCCCCTTACTCTGATCATGTTCATCTGTGTGCTGTTGTCAAAGAAGTACCAGATCTGGGGCCCTACTTCTTCCCAGGCTTTGACCAACTTCCTAACGTGTTCCAGTTCTTCAAAAGTTGAGTTGGCCTAAAACCAGACAGAGATCAAGACAGAGACACGAACAGAGAGAAAAGTGAGAGAGAACTTTTGGTTGTGTCTTTTCTGCCCCTATCACTTAGTGTTAGGGAAAGGCTTTTCAAGGAAGTG... |
Task1_train_1318 | This variant impacts the gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Severe early-childhood-onset retinal dystrophy | GGAAAAGGAAACAAGTGGAACTTTCTTGCCCCCACCGCTTCCTCCTCCCCTCCCCTCCCCATCCTCCAACCCCCCTTACTCTGATCATGTTCATCTGTGTGCTGTTGTCAAAGAAGTACCAGATCTGGGGCCCTACTTCTTCCCAGGCTTTGACCAACTTCCTAACGTGTTCCAGTTCTTCAAAAGTTGAGTTGGCCTAAAACCAGACAGAGATCAAGACAGAGACACGAACAGAGAGAAAAGTGAGAGAGAACTTTTGGTTGTGTCTTTTCTGCCCCTATCACTTAGTGTTAGGGAAAGGCTTTTCAAGGAAGTGTTTT... | GGAAAAGGAAACAAGTGGAACTTTCTTGCCCCCACCGCTTCCTCCTCCCCTCCCCTCCCCATCCTCCAACCCCCCTTACTCTGATCATGTTCATCTGTGTGCTGTTGTCAAAGAAGTACCAGATCTGGGGCCCTACTTCTTCCCAGGCTTTGACCAACTTCCTAACGTGTTCCAGTTCTTCAAAAGTTGAGTTGGCCTAAAACCAGACAGAGATCAAGACAGAGACACGAACAGAGAGAAAAGTGAGAGAGAACTTTTGGTTGTGTCTTTTCTGCCCCTATCACTTAGTGTTAGGGAAAGGCTTTTCAAGGAAGTGTTTT... |
Task1_train_1319 | This mutation occurs in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | AAGTGGAACTTTCTTGCCCCCACCGCTTCCTCCTCCCCTCCCCTCCCCATCCTCCAACCCCCCTTACTCTGATCATGTTCATCTGTGTGCTGTTGTCAAAGAAGTACCAGATCTGGGGCCCTACTTCTTCCCAGGCTTTGACCAACTTCCTAACGTGTTCCAGTTCTTCAAAAGTTGAGTTGGCCTAAAACCAGACAGAGATCAAGACAGAGACACGAACAGAGAGAAAAGTGAGAGAGAACTTTTGGTTGTGTCTTTTCTGCCCCTATCACTTAGTGTTAGGGAAAGGCTTTTCAAGGAAGTGTTTTTATTTTCTCAGT... | AAGTGGAACTTTCTTGCCCCCACCGCTTCCTCCTCCCCTCCCCTCCCCATCCTCCAACCCCCCTTACTCTGATCATGTTCATCTGTGTGCTGTTGTCAAAGAAGTACCAGATCTGGGGCCCTACTTCTTCCCAGGCTTTGACCAACTTCCTAACGTGTTCCAGTTCTTCAAAAGTTGAGTTGGCCTAAAACCAGACAGAGATCAAGACAGAGACACGAACAGAGAGAAAAGTGAGAGAGAACTTTTGGTTGTGTCTTTTCTGCCCCTATCACTTAGTGTTAGGGAAAGGCTTTTCAAGGAAGTGTTTTTATTTTCTCAGT... |
Task1_train_1320 | With a mutation on Chromosome 1 in gene ABCA4 (ATP binding cassette subfamily A member 4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Cone-rod dystrophy 3 | CGCTTCCTCCTCCCCTCCCCTCCCCATCCTCCAACCCCCCTTACTCTGATCATGTTCATCTGTGTGCTGTTGTCAAAGAAGTACCAGATCTGGGGCCCTACTTCTTCCCAGGCTTTGACCAACTTCCTAACGTGTTCCAGTTCTTCAAAAGTTGAGTTGGCCTAAAACCAGACAGAGATCAAGACAGAGACACGAACAGAGAGAAAAGTGAGAGAGAACTTTTGGTTGTGTCTTTTCTGCCCCTATCACTTAGTGTTAGGGAAAGGCTTTTCAAGGAAGTGTTTTTATTTTCTCAGTCTATTGCTATTTCCCAGAACAAT... | CGCTTCCTCCTCCCCTCCCCTCCCCATCCTCCAACCCCCCTTACTCTGATCATGTTCATCTGTGTGCTGTTGTCAAAGAAGTACCAGATCTGGGGCCCTACTTCTTCCCAGGCTTTGACCAACTTCCTAACGTGTTCCAGTTCTTCAAAAGTTGAGTTGGCCTAAAACCAGACAGAGATCAAGACAGAGACACGAACAGAGAGAAAAGTGAGAGAGAACTTTTGGTTGTGTCTTTTCTGCCCCTATCACTTAGTGTTAGGGAAAGGCTTTTCAAGGAAGTGTTTTTATTTTCTCAGTCTATTGCTATTTCCCAGAACAAT... |
Task1_train_1321 | The gene ABCA4 (ATP binding cassette subfamily A member 4), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Age related macular degeneration 2 | CGCTTCCTCCTCCCCTCCCCTCCCCATCCTCCAACCCCCCTTACTCTGATCATGTTCATCTGTGTGCTGTTGTCAAAGAAGTACCAGATCTGGGGCCCTACTTCTTCCCAGGCTTTGACCAACTTCCTAACGTGTTCCAGTTCTTCAAAAGTTGAGTTGGCCTAAAACCAGACAGAGATCAAGACAGAGACACGAACAGAGAGAAAAGTGAGAGAGAACTTTTGGTTGTGTCTTTTCTGCCCCTATCACTTAGTGTTAGGGAAAGGCTTTTCAAGGAAGTGTTTTTATTTTCTCAGTCTATTGCTATTTCCCAGAACAAT... | CGCTTCCTCCTCCCCTCCCCTCCCCATCCTCCAACCCCCCTTACTCTGATCATGTTCATCTGTGTGCTGTTGTCAAAGAAGTACCAGATCTGGGGCCCTACTTCTTCCCAGGCTTTGACCAACTTCCTAACGTGTTCCAGTTCTTCAAAAGTTGAGTTGGCCTAAAACCAGACAGAGATCAAGACAGAGACACGAACAGAGAGAAAAGTGAGAGAGAACTTTTGGTTGTGTCTTTTCTGCCCCTATCACTTAGTGTTAGGGAAAGGCTTTTCAAGGAAGTGTTTTTATTTTCTCAGTCTATTGCTATTTCCCAGAACAAT... |
Task1_train_1322 | Gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Retinitis pigmentosa 19 | CGCTTCCTCCTCCCCTCCCCTCCCCATCCTCCAACCCCCCTTACTCTGATCATGTTCATCTGTGTGCTGTTGTCAAAGAAGTACCAGATCTGGGGCCCTACTTCTTCCCAGGCTTTGACCAACTTCCTAACGTGTTCCAGTTCTTCAAAAGTTGAGTTGGCCTAAAACCAGACAGAGATCAAGACAGAGACACGAACAGAGAGAAAAGTGAGAGAGAACTTTTGGTTGTGTCTTTTCTGCCCCTATCACTTAGTGTTAGGGAAAGGCTTTTCAAGGAAGTGTTTTTATTTTCTCAGTCTATTGCTATTTCCCAGAACAAT... | CGCTTCCTCCTCCCCTCCCCTCCCCATCCTCCAACCCCCCTTACTCTGATCATGTTCATCTGTGTGCTGTTGTCAAAGAAGTACCAGATCTGGGGCCCTACTTCTTCCCAGGCTTTGACCAACTTCCTAACGTGTTCCAGTTCTTCAAAAGTTGAGTTGGCCTAAAACCAGACAGAGATCAAGACAGAGACACGAACAGAGAGAAAAGTGAGAGAGAACTTTTGGTTGTGTCTTTTCTGCCCCTATCACTTAGTGTTAGGGAAAGGCTTTTCAAGGAAGTGTTTTTATTTTCTCAGTCTATTGCTATTTCCCAGAACAAT... |
Task1_train_1323 | Here is a genetic alteration in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Severe early-childhood-onset retinal dystrophy | CGCTTCCTCCTCCCCTCCCCTCCCCATCCTCCAACCCCCCTTACTCTGATCATGTTCATCTGTGTGCTGTTGTCAAAGAAGTACCAGATCTGGGGCCCTACTTCTTCCCAGGCTTTGACCAACTTCCTAACGTGTTCCAGTTCTTCAAAAGTTGAGTTGGCCTAAAACCAGACAGAGATCAAGACAGAGACACGAACAGAGAGAAAAGTGAGAGAGAACTTTTGGTTGTGTCTTTTCTGCCCCTATCACTTAGTGTTAGGGAAAGGCTTTTCAAGGAAGTGTTTTTATTTTCTCAGTCTATTGCTATTTCCCAGAACAAT... | CGCTTCCTCCTCCCCTCCCCTCCCCATCCTCCAACCCCCCTTACTCTGATCATGTTCATCTGTGTGCTGTTGTCAAAGAAGTACCAGATCTGGGGCCCTACTTCTTCCCAGGCTTTGACCAACTTCCTAACGTGTTCCAGTTCTTCAAAAGTTGAGTTGGCCTAAAACCAGACAGAGATCAAGACAGAGACACGAACAGAGAGAAAAGTGAGAGAGAACTTTTGGTTGTGTCTTTTCTGCCCCTATCACTTAGTGTTAGGGAAAGGCTTTTCAAGGAAGTGTTTTTATTTTCTCAGTCTATTGCTATTTCCCAGAACAAT... |
Task1_train_1324 | This variant lies on Chromosome 1 and affects the gene ABCA4 (ATP binding cassette subfamily A member 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | TTGACCAACTTCCTAACGTGTTCCAGTTCTTCAAAAGTTGAGTTGGCCTAAAACCAGACAGAGATCAAGACAGAGACACGAACAGAGAGAAAAGTGAGAGAGAACTTTTGGTTGTGTCTTTTCTGCCCCTATCACTTAGTGTTAGGGAAAGGCTTTTCAAGGAAGTGTTTTTATTTTCTCAGTCTATTGCTATTTCCCAGAACAATTCACCATCTCCCAACTTCCTGGGCTGACAGAATCTAATTTCTTAGTATCTCAGAAGTCCATGTAATATTGATGATATTATTTTCTCAGAACCTCCCTCGTTAAAGCTAGATTTG... | TTGACCAACTTCCTAACGTGTTCCAGTTCTTCAAAAGTTGAGTTGGCCTAAAACCAGACAGAGATCAAGACAGAGACACGAACAGAGAGAAAAGTGAGAGAGAACTTTTGGTTGTGTCTTTTCTGCCCCTATCACTTAGTGTTAGGGAAAGGCTTTTCAAGGAAGTGTTTTTATTTTCTCAGTCTATTGCTATTTCCCAGAACAATTCACCATCTCCCAACTTCCTGGGCTGACAGAATCTAATTTCTTAGTATCTCAGAAGTCCATGTAATATTGATGATATTATTTTCTCAGAACCTCCCTCGTTAAAGCTAGATTTG... |
Task1_train_1325 | This sequence change occurs on Chromosome 1, altering ABCA4 (ATP binding cassette subfamily A member 4). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | GCCAAGGTGCTTCAAGAAGGGAAGAATGATGCTGCTCCCTTCATGGTGACGAGAGGATTGCACGAACCTGGGTACCCAGGCCCTGCCTGCAAAGCCCAGGTGCACAGACATTGCTCATTCTGCCCATTCTACAAAGCATGCGGGCCCTGGACACCTGAGAGGGAGCCTCTGGTGGCTCTGCAAACACCAGCACTGGACTCCTGGCTGTGCTGGTATTCAGCTGCCTGGAATAAGGGACCTTTGTTGCCTCACTCTTCTGTCTGATTCTGAAAACAAGTCAAGGAGCGTGTCTAAAATCAAGTTCTTTTTGAAACTTTGGA... | GCCAAGGTGCTTCAAGAAGGGAAGAATGATGCTGCTCCCTTCATGGTGACGAGAGGATTGCACGAACCTGGGTACCCAGGCCCTGCCTGCAAAGCCCAGGTGCACAGACATTGCTCATTCTGCCCATTCTACAAAGCATGCGGGCCCTGGACACCTGAGAGGGAGCCTCTGGTGGCTCTGCAAACACCAGCACTGGACTCCTGGCTGTGCTGGTATTCAGCTGCCTGGAATAAGGGACCTTTGTTGCCTCACTCTTCTGTCTGATTCTGAAAACAAGTCAAGGAGCGTGTCTAAAATCAAGTTCTTTTTGAAACTTTGGA... |
Task1_train_1326 | Given a variant located on Chromosome 1 and affecting ABCA4 (ATP binding cassette subfamily A member 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Age related macular degeneration 2 | TCCCTTCATGGTGACGAGAGGATTGCACGAACCTGGGTACCCAGGCCCTGCCTGCAAAGCCCAGGTGCACAGACATTGCTCATTCTGCCCATTCTACAAAGCATGCGGGCCCTGGACACCTGAGAGGGAGCCTCTGGTGGCTCTGCAAACACCAGCACTGGACTCCTGGCTGTGCTGGTATTCAGCTGCCTGGAATAAGGGACCTTTGTTGCCTCACTCTTCTGTCTGATTCTGAAAACAAGTCAAGGAGCGTGTCTAAAATCAAGTTCTTTTTGAAACTTTGGATAGAGACATTTGGACTACATTGCTTTTTATTTTTC... | TCCCTTCATGGTGACGAGAGGATTGCACGAACCTGGGTACCCAGGCCCTGCCTGCAAAGCCCAGGTGCACAGACATTGCTCATTCTGCCCATTCTACAAAGCATGCGGGCCCTGGACACCTGAGAGGGAGCCTCTGGTGGCTCTGCAAACACCAGCACTGGACTCCTGGCTGTGCTGGTATTCAGCTGCCTGGAATAAGGGACCTTTGTTGCCTCACTCTTCTGTCTGATTCTGAAAACAAGTCAAGGAGCGTGTCTAAAATCAAGTTCTTTTTGAAACTTTGGATAGAGACATTTGGACTACATTGCTTTTTATTTTTC... |
Task1_train_1327 | This gene mutation involves ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | TTGCTCATTCTGCCCATTCTACAAAGCATGCGGGCCCTGGACACCTGAGAGGGAGCCTCTGGTGGCTCTGCAAACACCAGCACTGGACTCCTGGCTGTGCTGGTATTCAGCTGCCTGGAATAAGGGACCTTTGTTGCCTCACTCTTCTGTCTGATTCTGAAAACAAGTCAAGGAGCGTGTCTAAAATCAAGTTCTTTTTGAAACTTTGGATAGAGACATTTGGACTACATTGCTTTTTATTTTTCCTACAGTGTGGTGAGCCAAGAGACCTTTTCTGGGGTCCTGGGCTCTCACTGATGGTGGCATCCCTAGGCTCTGAC... | TTGCTCATTCTGCCCATTCTACAAAGCATGCGGGCCCTGGACACCTGAGAGGGAGCCTCTGGTGGCTCTGCAAACACCAGCACTGGACTCCTGGCTGTGCTGGTATTCAGCTGCCTGGAATAAGGGACCTTTGTTGCCTCACTCTTCTGTCTGATTCTGAAAACAAGTCAAGGAGCGTGTCTAAAATCAAGTTCTTTTTGAAACTTTGGATAGAGACATTTGGACTACATTGCTTTTTATTTTTCCTACAGTGTGGTGAGCCAAGAGACCTTTTCTGGGGTCCTGGGCTCTCACTGATGGTGGCATCCCTAGGCTCTGAC... |
Task1_train_1328 | This variant impacts the gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | GGAGGGCCGGGTTGGCTGGAACGTGCCTCTGCGAAGCGCAGATGGCTCAGCGTTTGCTAATCAGCAGAGCATCAGCTCATCAGAGCCAGCAACATGAAATAAAGGCACAACCTGGTGACCCCGGCCTCCATTCTCCAACATGAAAGGCCTTGGCACTGATGCCAGAAGCACAGTACTAGAGATCTAAATGTCACATTAGTAAGGAACTGGAAAGAAATTTCCCCGAAATTCCTGTCCTTATCTTCATCTCCCTTTTATTACCAACTGGAAGTCATCAAGGCATTGTCAGGACTTGAGTTTTACGAGCTGAAGAGAAAGCA... | GGAGGGCCGGGTTGGCTGGAACGTGCCTCTGCGAAGCGCAGATGGCTCAGCGTTTGCTAATCAGCAGAGCATCAGCTCATCAGAGCCAGCAACATGAAATAAAGGCACAACCTGGTGACCCCGGCCTCCATTCTCCAACATGAAAGGCCTTGGCACTGATGCCAGAAGCACAGTACTAGAGATCTAAATGTCACATTAGTAAGGAACTGGAAAGAAATTTCCCCGAAATTCCTGTCCTTATCTTCATCTCCCTTTTATTACCAACTGGAAGTCATCAAGGCATTGTCAGGACTTGAGTTTTACGAGCTGAAGAGAAAGCA... |
Task1_train_1329 | A genomic change on Chromosome 1 affects ABCA4 (ATP binding cassette subfamily A member 4). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | CATCCACAAGGACCTCCCTGCACACACACATTGGCACGCATGCACATGCACGCCTCTGCCAAGGCTGATGGGACAGGGAGAATAAAGCTGGGTCAACCCGATTTGTTCCCAGGAATTTGGATGGTGTTCAGAGATGAGCTTCTGATTGCCCAGGCCGAGGTATTGTGAATTGCATGAACAATGGCAGCCCAGGCATTGAGGAGCAGGGGAGACTGGTCCATGGAGAGAGGTGAATGGAGTAGATACAGAGGCCAGGGCTGGCAGGCCCAGATGGAAGAGAGTTGAGGAAGCAGCTCCTGACAGCTCTCCAGGTCTTGGCC... | CATCCACAAGGACCTCCCTGCACACACACATTGGCACGCATGCACATGCACGCCTCTGCCAAGGCTGATGGGACAGGGAGAATAAAGCTGGGTCAACCCGATTTGTTCCCAGGAATTTGGATGGTGTTCAGAGATGAGCTTCTGATTGCCCAGGCCGAGGTATTGTGAATTGCATGAACAATGGCAGCCCAGGCATTGAGGAGCAGGGGAGACTGGTCCATGGAGAGAGGTGAATGGAGTAGATACAGAGGCCAGGGCTGGCAGGCCCAGATGGAAGAGAGTTGAGGAAGCAGCTCCTGACAGCTCTCCAGGTCTTGGCC... |
Task1_train_1330 | Mutation context: Chromosome 1, Gene ABCA4 (ATP binding cassette subfamily A member 4). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | CCACAAGGACCTCCCTGCACACACACATTGGCACGCATGCACATGCACGCCTCTGCCAAGGCTGATGGGACAGGGAGAATAAAGCTGGGTCAACCCGATTTGTTCCCAGGAATTTGGATGGTGTTCAGAGATGAGCTTCTGATTGCCCAGGCCGAGGTATTGTGAATTGCATGAACAATGGCAGCCCAGGCATTGAGGAGCAGGGGAGACTGGTCCATGGAGAGAGGTGAATGGAGTAGATACAGAGGCCAGGGCTGGCAGGCCCAGATGGAAGAGAGTTGAGGAAGCAGCTCCTGACAGCTCTCCAGGTCTTGGCCTGC... | CCACAAGGACCTCCCTGCACACACACATTGGCACGCATGCACATGCACGCCTCTGCCAAGGCTGATGGGACAGGGAGAATAAAGCTGGGTCAACCCGATTTGTTCCCAGGAATTTGGATGGTGTTCAGAGATGAGCTTCTGATTGCCCAGGCCGAGGTATTGTGAATTGCATGAACAATGGCAGCCCAGGCATTGAGGAGCAGGGGAGACTGGTCCATGGAGAGAGGTGAATGGAGTAGATACAGAGGCCAGGGCTGGCAGGCCCAGATGGAAGAGAGTTGAGGAAGCAGCTCCTGACAGCTCTCCAGGTCTTGGCCTGC... |
Task1_train_1331 | Located on Chromosome 1, this mutation impacts ABCA4 (ATP binding cassette subfamily A member 4). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Retinitis pigmentosa | ATGGGACAGGGAGAATAAAGCTGGGTCAACCCGATTTGTTCCCAGGAATTTGGATGGTGTTCAGAGATGAGCTTCTGATTGCCCAGGCCGAGGTATTGTGAATTGCATGAACAATGGCAGCCCAGGCATTGAGGAGCAGGGGAGACTGGTCCATGGAGAGAGGTGAATGGAGTAGATACAGAGGCCAGGGCTGGCAGGCCCAGATGGAAGAGAGTTGAGGAAGCAGCTCCTGACAGCTCTCCAGGTCTTGGCCTGCCTCTCCTGAGCCCCGCCTTGCTGCCCTTGGCTCTGTGAGAATGTCTAGTATCCAAATCATAGAT... | ATGGGACAGGGAGAATAAAGCTGGGTCAACCCGATTTGTTCCCAGGAATTTGGATGGTGTTCAGAGATGAGCTTCTGATTGCCCAGGCCGAGGTATTGTGAATTGCATGAACAATGGCAGCCCAGGCATTGAGGAGCAGGGGAGACTGGTCCATGGAGAGAGGTGAATGGAGTAGATACAGAGGCCAGGGCTGGCAGGCCCAGATGGAAGAGAGTTGAGGAAGCAGCTCCTGACAGCTCTCCAGGTCTTGGCCTGCCTCTCCTGAGCCCCGCCTTGCTGCCCTTGGCTCTGTGAGAATGTCTAGTATCCAAATCATAGAT... |
Task1_train_1332 | The variant affects gene ABCA4 (ATP binding cassette subfamily A member 4), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | GGGAGAATAAAGCTGGGTCAACCCGATTTGTTCCCAGGAATTTGGATGGTGTTCAGAGATGAGCTTCTGATTGCCCAGGCCGAGGTATTGTGAATTGCATGAACAATGGCAGCCCAGGCATTGAGGAGCAGGGGAGACTGGTCCATGGAGAGAGGTGAATGGAGTAGATACAGAGGCCAGGGCTGGCAGGCCCAGATGGAAGAGAGTTGAGGAAGCAGCTCCTGACAGCTCTCCAGGTCTTGGCCTGCCTCTCCTGAGCCCCGCCTTGCTGCCCTTGGCTCTGTGAGAATGTCTAGTATCCAAATCATAGATTTCCTTCT... | GGGAGAATAAAGCTGGGTCAACCCGATTTGTTCCCAGGAATTTGGATGGTGTTCAGAGATGAGCTTCTGATTGCCCAGGCCGAGGTATTGTGAATTGCATGAACAATGGCAGCCCAGGCATTGAGGAGCAGGGGAGACTGGTCCATGGAGAGAGGTGAATGGAGTAGATACAGAGGCCAGGGCTGGCAGGCCCAGATGGAAGAGAGTTGAGGAAGCAGCTCCTGACAGCTCTCCAGGTCTTGGCCTGCCTCTCCTGAGCCCCGCCTTGCTGCCCTTGGCTCTGTGAGAATGTCTAGTATCCAAATCATAGATTTCCTTCT... |
Task1_train_1333 | A variant on Chromosome 1 in gene ABCA4 (ATP binding cassette subfamily A member 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | CCCAGGAATTTGGATGGTGTTCAGAGATGAGCTTCTGATTGCCCAGGCCGAGGTATTGTGAATTGCATGAACAATGGCAGCCCAGGCATTGAGGAGCAGGGGAGACTGGTCCATGGAGAGAGGTGAATGGAGTAGATACAGAGGCCAGGGCTGGCAGGCCCAGATGGAAGAGAGTTGAGGAAGCAGCTCCTGACAGCTCTCCAGGTCTTGGCCTGCCTCTCCTGAGCCCCGCCTTGCTGCCCTTGGCTCTGTGAGAATGTCTAGTATCCAAATCATAGATTTCCTTCTGGGGTTTAAGATTGCTTGAATGGGTTTCCGTG... | CCCAGGAATTTGGATGGTGTTCAGAGATGAGCTTCTGATTGCCCAGGCCGAGGTATTGTGAATTGCATGAACAATGGCAGCCCAGGCATTGAGGAGCAGGGGAGACTGGTCCATGGAGAGAGGTGAATGGAGTAGATACAGAGGCCAGGGCTGGCAGGCCCAGATGGAAGAGAGTTGAGGAAGCAGCTCCTGACAGCTCTCCAGGTCTTGGCCTGCCTCTCCTGAGCCCCGCCTTGCTGCCCTTGGCTCTGTGAGAATGTCTAGTATCCAAATCATAGATTTCCTTCTGGGGTTTAAGATTGCTTGAATGGGTTTCCGTG... |
Task1_train_1334 | Consider this mutation in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | CCAGGAATTTGGATGGTGTTCAGAGATGAGCTTCTGATTGCCCAGGCCGAGGTATTGTGAATTGCATGAACAATGGCAGCCCAGGCATTGAGGAGCAGGGGAGACTGGTCCATGGAGAGAGGTGAATGGAGTAGATACAGAGGCCAGGGCTGGCAGGCCCAGATGGAAGAGAGTTGAGGAAGCAGCTCCTGACAGCTCTCCAGGTCTTGGCCTGCCTCTCCTGAGCCCCGCCTTGCTGCCCTTGGCTCTGTGAGAATGTCTAGTATCCAAATCATAGATTTCCTTCTGGGGTTTAAGATTGCTTGAATGGGTTTCCGTGC... | CCAGGAATTTGGATGGTGTTCAGAGATGAGCTTCTGATTGCCCAGGCCGAGGTATTGTGAATTGCATGAACAATGGCAGCCCAGGCATTGAGGAGCAGGGGAGACTGGTCCATGGAGAGAGGTGAATGGAGTAGATACAGAGGCCAGGGCTGGCAGGCCCAGATGGAAGAGAGTTGAGGAAGCAGCTCCTGACAGCTCTCCAGGTCTTGGCCTGCCTCTCCTGAGCCCCGCCTTGCTGCCCTTGGCTCTGTGAGAATGTCTAGTATCCAAATCATAGATTTCCTTCTGGGGTTTAAGATTGCTTGAATGGGTTTCCGTGC... |
Task1_train_1335 | Gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | TTCAGAGATGAGCTTCTGATTGCCCAGGCCGAGGTATTGTGAATTGCATGAACAATGGCAGCCCAGGCATTGAGGAGCAGGGGAGACTGGTCCATGGAGAGAGGTGAATGGAGTAGATACAGAGGCCAGGGCTGGCAGGCCCAGATGGAAGAGAGTTGAGGAAGCAGCTCCTGACAGCTCTCCAGGTCTTGGCCTGCCTCTCCTGAGCCCCGCCTTGCTGCCCTTGGCTCTGTGAGAATGTCTAGTATCCAAATCATAGATTTCCTTCTGGGGTTTAAGATTGCTTGAATGGGTTTCCGTGCCTTGCAAGCAAAAGAACC... | TTCAGAGATGAGCTTCTGATTGCCCAGGCCGAGGTATTGTGAATTGCATGAACAATGGCAGCCCAGGCATTGAGGAGCAGGGGAGACTGGTCCATGGAGAGAGGTGAATGGAGTAGATACAGAGGCCAGGGCTGGCAGGCCCAGATGGAAGAGAGTTGAGGAAGCAGCTCCTGACAGCTCTCCAGGTCTTGGCCTGCCTCTCCTGAGCCCCGCCTTGCTGCCCTTGGCTCTGTGAGAATGTCTAGTATCCAAATCATAGATTTCCTTCTGGGGTTTAAGATTGCTTGAATGGGTTTCCGTGCCTTGCAAGCAAAAGAACC... |
Task1_train_1336 | Given a variant located on Chromosome 1 and affecting ABCA4 (ATP binding cassette subfamily A member 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Severe early-childhood-onset retinal dystrophy | AGAGATGAGCTTCTGATTGCCCAGGCCGAGGTATTGTGAATTGCATGAACAATGGCAGCCCAGGCATTGAGGAGCAGGGGAGACTGGTCCATGGAGAGAGGTGAATGGAGTAGATACAGAGGCCAGGGCTGGCAGGCCCAGATGGAAGAGAGTTGAGGAAGCAGCTCCTGACAGCTCTCCAGGTCTTGGCCTGCCTCTCCTGAGCCCCGCCTTGCTGCCCTTGGCTCTGTGAGAATGTCTAGTATCCAAATCATAGATTTCCTTCTGGGGTTTAAGATTGCTTGAATGGGTTTCCGTGCCTTGCAAGCAAAAGAACCTTG... | AGAGATGAGCTTCTGATTGCCCAGGCCGAGGTATTGTGAATTGCATGAACAATGGCAGCCCAGGCATTGAGGAGCAGGGGAGACTGGTCCATGGAGAGAGGTGAATGGAGTAGATACAGAGGCCAGGGCTGGCAGGCCCAGATGGAAGAGAGTTGAGGAAGCAGCTCCTGACAGCTCTCCAGGTCTTGGCCTGCCTCTCCTGAGCCCCGCCTTGCTGCCCTTGGCTCTGTGAGAATGTCTAGTATCCAAATCATAGATTTCCTTCTGGGGTTTAAGATTGCTTGAATGGGTTTCCGTGCCTTGCAAGCAAAAGAACCTTG... |
Task1_train_1337 | Assess the clinical impact of this variant on gene ABCA4 (ATP binding cassette subfamily A member 4), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not specified | TTACCTTCCCAATGCTCCCTGACATTTTTCCTAGCCCTTAGATGTCCAAGAAAGCTTTTAAAGGAAGAGAGATCTGTCCAGGTTGATCAGGGTGAGGGAACTGAGTTTTTCTCCTACAATGATTCACTCCACCCAAGCAGGTCAATGACCAGAAGGCAGTGGACACATCTCTGCAGCGGGCTGCCATCAGACTCCAGGTCACATTCTGGGGATATAAGGACCAAGAAATTTTGTGCACGTGGCCTTAGCTTGGAGATTTCTCCCCAAGTGCCCTGACAGTTAACAGAATGTTCCAGAGAGGAAACCTGCTCTGCTCCTAA... | TTACCTTCCCAATGCTCCCTGACATTTTTCCTAGCCCTTAGATGTCCAAGAAAGCTTTTAAAGGAAGAGAGATCTGTCCAGGTTGATCAGGGTGAGGGAACTGAGTTTTTCTCCTACAATGATTCACTCCACCCAAGCAGGTCAATGACCAGAAGGCAGTGGACACATCTCTGCAGCGGGCTGCCATCAGACTCCAGGTCACATTCTGGGGATATAAGGACCAAGAAATTTTGTGCACGTGGCCTTAGCTTGGAGATTTCTCCCCAAGTGCCCTGACAGTTAACAGAATGTTCCAGAGAGGAAACCTGCTCTGCTCCTAA... |
Task1_train_1338 | A variant found in Chromosome 1 affects ABCA4 (ATP binding cassette subfamily A member 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | TGACCCCCTTTGAGGGTCACAAAGAGCACAGTGAGAATAAAATGAACTGAGAATTGTAATTTCTTATGGGAAAGAGAGAACAATGGCATATTGGATTTTCCTCCGCAGTCCACAGATGCCTCACATAGGCAGGGGCTGGGAGGTCTTGTTGCCATTGTATACCAATGAACCTAGCACGGTGCCTGGAGATTATTTTTTGATAGAAGGAAAGAATGAATACATGAAAAAATTTAATCATGAGGTTTTTTTTTCCAGTTTTATCAGGATTTTCATGCAAGAAGGGAAGCTCCTAGAAGAAAGGACTGAGTTTCTGATTACTC... | TGACCCCCTTTGAGGGTCACAAAGAGCACAGTGAGAATAAAATGAACTGAGAATTGTAATTTCTTATGGGAAAGAGAGAACAATGGCATATTGGATTTTCCTCCGCAGTCCACAGATGCCTCACATAGGCAGGGGCTGGGAGGTCTTGTTGCCATTGTATACCAATGAACCTAGCACGGTGCCTGGAGATTATTTTTTGATAGAAGGAAAGAATGAATACATGAAAAAATTTAATCATGAGGTTTTTTTTTCCAGTTTTATCAGGATTTTCATGCAAGAAGGGAAGCTCCTAGAAGAAAGGACTGAGTTTCTGATTACTC... |
Task1_train_1339 | A genetic alteration is present in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Stargardt disease | GGGTCACAAAGAGCACAGTGAGAATAAAATGAACTGAGAATTGTAATTTCTTATGGGAAAGAGAGAACAATGGCATATTGGATTTTCCTCCGCAGTCCACAGATGCCTCACATAGGCAGGGGCTGGGAGGTCTTGTTGCCATTGTATACCAATGAACCTAGCACGGTGCCTGGAGATTATTTTTTGATAGAAGGAAAGAATGAATACATGAAAAAATTTAATCATGAGGTTTTTTTTTCCAGTTTTATCAGGATTTTCATGCAAGAAGGGAAGCTCCTAGAAGAAAGGACTGAGTTTCTGATTACTCTTAATACTTGGCC... | GGGTCACAAAGAGCACAGTGAGAATAAAATGAACTGAGAATTGTAATTTCTTATGGGAAAGAGAGAACAATGGCATATTGGATTTTCCTCCGCAGTCCACAGATGCCTCACATAGGCAGGGGCTGGGAGGTCTTGTTGCCATTGTATACCAATGAACCTAGCACGGTGCCTGGAGATTATTTTTTGATAGAAGGAAAGAATGAATACATGAAAAAATTTAATCATGAGGTTTTTTTTTCCAGTTTTATCAGGATTTTCATGCAAGAAGGGAAGCTCCTAGAAGAAAGGACTGAGTTTCTGATTACTCTTAATACTTGGCC... |
Task1_train_1340 | Gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | TTATGGGAAAGAGAGAACAATGGCATATTGGATTTTCCTCCGCAGTCCACAGATGCCTCACATAGGCAGGGGCTGGGAGGTCTTGTTGCCATTGTATACCAATGAACCTAGCACGGTGCCTGGAGATTATTTTTTGATAGAAGGAAAGAATGAATACATGAAAAAATTTAATCATGAGGTTTTTTTTTCCAGTTTTATCAGGATTTTCATGCAAGAAGGGAAGCTCCTAGAAGAAAGGACTGAGTTTCTGATTACTCTTAATACTTGGCCCCTGGAGACAACAGATAACTTCAGCACCAGGCTTGACAGAGGAAAGTGAC... | TTATGGGAAAGAGAGAACAATGGCATATTGGATTTTCCTCCGCAGTCCACAGATGCCTCACATAGGCAGGGGCTGGGAGGTCTTGTTGCCATTGTATACCAATGAACCTAGCACGGTGCCTGGAGATTATTTTTTGATAGAAGGAAAGAATGAATACATGAAAAAATTTAATCATGAGGTTTTTTTTTCCAGTTTTATCAGGATTTTCATGCAAGAAGGGAAGCTCCTAGAAGAAAGGACTGAGTTTCTGATTACTCTTAATACTTGGCCCCTGGAGACAACAGATAACTTCAGCACCAGGCTTGACAGAGGAAAGTGAC... |
Task1_train_1341 | The gene ABCA4 (ATP binding cassette subfamily A member 4) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Stargardt disease | TATGGGAAAGAGAGAACAATGGCATATTGGATTTTCCTCCGCAGTCCACAGATGCCTCACATAGGCAGGGGCTGGGAGGTCTTGTTGCCATTGTATACCAATGAACCTAGCACGGTGCCTGGAGATTATTTTTTGATAGAAGGAAAGAATGAATACATGAAAAAATTTAATCATGAGGTTTTTTTTTCCAGTTTTATCAGGATTTTCATGCAAGAAGGGAAGCTCCTAGAAGAAAGGACTGAGTTTCTGATTACTCTTAATACTTGGCCCCTGGAGACAACAGATAACTTCAGCACCAGGCTTGACAGAGGAAAGTGACC... | TATGGGAAAGAGAGAACAATGGCATATTGGATTTTCCTCCGCAGTCCACAGATGCCTCACATAGGCAGGGGCTGGGAGGTCTTGTTGCCATTGTATACCAATGAACCTAGCACGGTGCCTGGAGATTATTTTTTGATAGAAGGAAAGAATGAATACATGAAAAAATTTAATCATGAGGTTTTTTTTTCCAGTTTTATCAGGATTTTCATGCAAGAAGGGAAGCTCCTAGAAGAAAGGACTGAGTTTCTGATTACTCTTAATACTTGGCCCCTGGAGACAACAGATAACTTCAGCACCAGGCTTGACAGAGGAAAGTGACC... |
Task1_train_1342 | A mutation found in ALG14, ALG14-AS1 (ALG14 UDP-N-acetylglucosaminyltransferase subunit| ALG14 antisense RNA 1) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Congenital myasthenic syndrome 15 | ACCAATACTGTAAAAGCATTCCTTTTTCTCCACAACCTCACCAACATCTGTTGTTTCTGGACTTTTTAATAATCGCCATTCTGAGTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCGTTTCTCTAATGATCAGTGATGTTGAGCTTTCTTTCATATGTTTGTTGGCTGCATGAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTGCCCACTTTTTAATAACAGTTTTTTTCTTGTAAATTTGTTTAAGTTCCTTGTAGACTCTGTATATTAGACCTTTGTCAGATGGACATATTGCAAAAATTTTCTCC... | ACCAATACTGTAAAAGCATTCCTTTTTCTCCACAACCTCACCAACATCTGTTGTTTCTGGACTTTTTAATAATCGCCATTCTGAGTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCGTTTCTCTAATGATCAGTGATGTTGAGCTTTCTTTCATATGTTTGTTGGCTGCATGAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTGCCCACTTTTTAATAACAGTTTTTTTCTTGTAAATTTGTTTAAGTTCCTTGTAGACTCTGTATATTAGACCTTTGTCAGATGGACATATTGCAAAAATTTTCTCC... |
Task1_train_1343 | This gene mutation involves DPYD (dihydropyrimidine dehydrogenase) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Fluorouracil response | GCATTTGGCATTCAGTATCTTGAAGAGGACTCAGGTGTGTACATACATGGGATATCTTTTATAATATTCCCAGAAGGCTACTAAACTCCCAGAACTCCCAGAGTGAAAAACTCTCATCAGATTCAGGTAGGGGGTAAGACATTATGATGGCATCCACGTAGCCCTGGTAAATCTCTTTTCTAGATTACTGGAACTGTTTTCTAAGTGTTACCAACTCCAAAAGTTAAAATCCCTCACCACGACAAGAGTGCAAAGAGAGTCAATTTATATGAGTCAATAATATCACATAACTATCTAAGCAGTAATATTAAGTGAGGTGT... | GCATTTGGCATTCAGTATCTTGAAGAGGACTCAGGTGTGTACATACATGGGATATCTTTTATAATATTCCCAGAAGGCTACTAAACTCCCAGAACTCCCAGAGTGAAAAACTCTCATCAGATTCAGGTAGGGGGTAAGACATTATGATGGCATCCACGTAGCCCTGGTAAATCTCTTTTCTAGATTACTGGAACTGTTTTCTAAGTGTTACCAACTCCAAAAGTTAAAATCCCTCACCACGACAAGAGTGCAAAGAGAGTCAATTTATATGAGTCAATAATATCACATAACTATCTAAGCAGTAATATTAAGTGAGGTGT... |
Task1_train_1344 | This variant lies on Chromosome 1 and affects the gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Glycogen storage disease type III | CATCTGGCTCCTTACTTTGTAAGTGACATAAAGCATAGGTTGGGCAACTAGAGTGCAGTAAAAGCCTTTGCATATCTTTACTTAGAGTCTTTTTTAAAAATATCTTTGCAAAGTAACATCAATGCCTCAATTATGTATTTATTTTTTTTCTTTGAGATGGAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCATTGCAACCTCCGCCTCCAGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCCAGGACTACAGAGGTGCACCACCATGCCCAGCTAATTTTTGTAGTTTTAGTAG... | CATCTGGCTCCTTACTTTGTAAGTGACATAAAGCATAGGTTGGGCAACTAGAGTGCAGTAAAAGCCTTTGCATATCTTTACTTAGAGTCTTTTTTAAAAATATCTTTGCAAAGTAACATCAATGCCTCAATTATGTATTTATTTTTTTTCTTTGAGATGGAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCATTGCAACCTCCGCCTCCAGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCCAGGACTACAGAGGTGCACCACCATGCCCAGCTAATTTTTGTAGTTTTAGTAG... |
Task1_train_1345 | Here is a variant affecting AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Glycogen storage disease IIIc | AGGTTTCTTCCAGCTTGAGGATCTGTCAGTTTCCATGGCTTCTGGGGCCTCTCCAGGAGGCAAGCAGAGAGGGAAAGAGAGCTGGGGGAACACACCTATTCTCCATACACTTAACATGCATCAGTTCTGGCCACAACCAACTGTAAGATTGGTTGTGAATTGTAGGAAATTCGTTTTAGTGGACATATACCTCTACCACAGATGGTTCTACTTCCTCCCTCTATAGAGGTAATCATGAATCAGAAGTCGTTTTATTAAAATGTACAAGATTGTTCCAGATGGTTAAGATTGCTAGCACTATGGCCAGGCATGGTGGCTCA... | AGGTTTCTTCCAGCTTGAGGATCTGTCAGTTTCCATGGCTTCTGGGGCCTCTCCAGGAGGCAAGCAGAGAGGGAAAGAGAGCTGGGGGAACACACCTATTCTCCATACACTTAACATGCATCAGTTCTGGCCACAACCAACTGTAAGATTGGTTGTGAATTGTAGGAAATTCGTTTTAGTGGACATATACCTCTACCACAGATGGTTCTACTTCCTCCCTCTATAGAGGTAATCATGAATCAGAAGTCGTTTTATTAAAATGTACAAGATTGTTCCAGATGGTTAAGATTGCTAGCACTATGGCCAGGCATGGTGGCTCA... |
Task1_train_1346 | This genomic variant is located on Chromosome 1, within the AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Glycogen storage disease IIIa | TACAAGGAAGTAAAATAGAGAAGGTATGTGTTCTTCTATGCCTGGCTAGCTGTTTTCACGTTGTCAAAAAGAGTACCAAACCTACTACTATAAATTATAGTAGAATGAAAAGTGTAAAAGTACACAAAGGTAGCTTTGGTTCAGCGTGGACCATTAAAATTAATGCATATTCTTGGTCAACAATGCTTTTCTCTTCTTTCTCTGTATCTCTGATAAATTTACTCATGCTATTGGAGTAAAAGTTCTGTGTTTATTTATGGCCCCAGAAGCAAACAATGGGTATCAGATGTACTTAAAGAAAGCTATTATGAATCTGCTGA... | TACAAGGAAGTAAAATAGAGAAGGTATGTGTTCTTCTATGCCTGGCTAGCTGTTTTCACGTTGTCAAAAAGAGTACCAAACCTACTACTATAAATTATAGTAGAATGAAAAGTGTAAAAGTACACAAAGGTAGCTTTGGTTCAGCGTGGACCATTAAAATTAATGCATATTCTTGGTCAACAATGCTTTTCTCTTCTTTCTCTGTATCTCTGATAAATTTACTCATGCTATTGGAGTAAAAGTTCTGTGTTTATTTATGGCCCCAGAAGCAAACAATGGGTATCAGATGTACTTAAAGAAAGCTATTATGAATCTGCTGA... |
Task1_train_1347 | Given a variant located on Chromosome 1 and affecting SLC35A3 (solute carrier family 35 member A3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not specified | TGCTTGGTTTTTGTTTGTTTGTTTACCAAAAAAGCCTACAGCGATTTTGTTCAGAATTGAATTGCATCTTCAGTTAAATCTATGACAAAGGATGTGATCATCACTAGGAAAGCAGTCAGGTATTAGACACTGCATTAAGTCCTTCCTTGAATCCTTGAATTCAAGTAAGATCTGATAGATCTTTTTTTGGAGACGTAGTCTTGCTCTGCCGCCAGGCTAGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTTCACCTCCCGAGTTCAAGCTATTCTCCTGCCTCAGCCTCACGAGCAGATGGGACTACAGGTGCGTG... | TGCTTGGTTTTTGTTTGTTTGTTTACCAAAAAAGCCTACAGCGATTTTGTTCAGAATTGAATTGCATCTTCAGTTAAATCTATGACAAAGGATGTGATCATCACTAGGAAAGCAGTCAGGTATTAGACACTGCATTAAGTCCTTCCTTGAATCCTTGAATTCAAGTAAGATCTGATAGATCTTTTTTTGGAGACGTAGTCTTGCTCTGCCGCCAGGCTAGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTTCACCTCCCGAGTTCAAGCTATTCTCCTGCCTCAGCCTCACGAGCAGATGGGACTACAGGTGCGTG... |
Task1_train_1348 | Gene SLC35A3 (solute carrier family 35 member A3), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Autism spectrum disorder - epilepsy - arthrogryposis syndrome | TGCTTGGTTTTTGTTTGTTTGTTTACCAAAAAAGCCTACAGCGATTTTGTTCAGAATTGAATTGCATCTTCAGTTAAATCTATGACAAAGGATGTGATCATCACTAGGAAAGCAGTCAGGTATTAGACACTGCATTAAGTCCTTCCTTGAATCCTTGAATTCAAGTAAGATCTGATAGATCTTTTTTTGGAGACGTAGTCTTGCTCTGCCGCCAGGCTAGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTTCACCTCCCGAGTTCAAGCTATTCTCCTGCCTCAGCCTCACGAGCAGATGGGACTACAGGTGCGTG... | TGCTTGGTTTTTGTTTGTTTGTTTACCAAAAAAGCCTACAGCGATTTTGTTCAGAATTGAATTGCATCTTCAGTTAAATCTATGACAAAGGATGTGATCATCACTAGGAAAGCAGTCAGGTATTAGACACTGCATTAAGTCCTTCCTTGAATCCTTGAATTCAAGTAAGATCTGATAGATCTTTTTTTGGAGACGTAGTCTTGCTCTGCCGCCAGGCTAGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTTCACCTCCCGAGTTCAAGCTATTCTCCTGCCTCAGCCTCACGAGCAGATGGGACTACAGGTGCGTG... |
Task1_train_1349 | A variant has been detected on Chromosome 1 in SLC35A3 (solute carrier family 35 member A3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Autism spectrum disorder - epilepsy - arthrogryposis syndrome | GCTTGGTTTTTGTTTGTTTGTTTACCAAAAAAGCCTACAGCGATTTTGTTCAGAATTGAATTGCATCTTCAGTTAAATCTATGACAAAGGATGTGATCATCACTAGGAAAGCAGTCAGGTATTAGACACTGCATTAAGTCCTTCCTTGAATCCTTGAATTCAAGTAAGATCTGATAGATCTTTTTTTGGAGACGTAGTCTTGCTCTGCCGCCAGGCTAGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTTCACCTCCCGAGTTCAAGCTATTCTCCTGCCTCAGCCTCACGAGCAGATGGGACTACAGGTGCGTGC... | GCTTGGTTTTTGTTTGTTTGTTTACCAAAAAAGCCTACAGCGATTTTGTTCAGAATTGAATTGCATCTTCAGTTAAATCTATGACAAAGGATGTGATCATCACTAGGAAAGCAGTCAGGTATTAGACACTGCATTAAGTCCTTCCTTGAATCCTTGAATTCAAGTAAGATCTGATAGATCTTTTTTTGGAGACGTAGTCTTGCTCTGCCGCCAGGCTAGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTTCACCTCCCGAGTTCAAGCTATTCTCCTGCCTCAGCCTCACGAGCAGATGGGACTACAGGTGCGTGC... |
Task1_train_1350 | A genetic alteration is present in SLC35A3 (solute carrier family 35 member A3) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Autism spectrum disorder - epilepsy - arthrogryposis syndrome | ATCTAGATATTTAATTCTGTGACAGTTCATAGCCTCATATTGTAGTTACATATTGGAAAACATCTGTCAAATTCAGTTTATATATAGCTTGGAATTGTTCAAGGGTTGAGTAATTAATTACATCTTTAAAAAATACATATGGAGAATTCTAGAGGATATAAAAATGAAGATACAAGTCACTATCCTTAGAGCCTCCTATTCTTCTAGAGATATTTGAAGCCTAGGAAGCAAGGCTCCAGAAAGGAAGGTGAAGATGGCAAAGGATAGTTGTGTTTTAAAAGCAGGTAGGATACTTCTATTTTTTTTTTTTTTTTTTTTGA... | ATCTAGATATTTAATTCTGTGACAGTTCATAGCCTCATATTGTAGTTACATATTGGAAAACATCTGTCAAATTCAGTTTATATATAGCTTGGAATTGTTCAAGGGTTGAGTAATTAATTACATCTTTAAAAAATACATATGGAGAATTCTAGAGGATATAAAAATGAAGATACAAGTCACTATCCTTAGAGCCTCCTATTCTTCTAGAGATATTTGAAGCCTAGGAAGCAAGGCTCCAGAAAGGAAGGTGAAGATGGCAAAGGATAGTTGTGTTTTAAAAGCAGGTAGGATACTTCTATTTTTTTTTTTTTTTTTTTTGA... |
Task1_train_1351 | The gene SASS6 (SAS-6 centriolar assembly protein) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Microcephaly 14, primary, autosomal recessive | CTAAGCTTCTCAATTCCTGGTCCAGATCCATCCCGACTATACCTTGACTAAATAAGAAACAGTAAAATAAATTCGTTATATTTCATAAAACTTTATTTAGAAAACAAAAACTTATGGCAATGTATCTCTTCAATAATTTATCAAAGACCATTGATACTTATTTTGTTAAAAGAATAACTTAAATTTAAATCTTACCTTGCTACATTTCAAACAGCCTGCGAGAAATTTCTTTATCTCCACATCATTTCCAGGTAAAAGTTTTAGTGAGAGGTGTGTAAGATGCTTAAAAGGATTTGTCTCTACCACATTTAAAAATGCAG... | CTAAGCTTCTCAATTCCTGGTCCAGATCCATCCCGACTATACCTTGACTAAATAAGAAACAGTAAAATAAATTCGTTATATTTCATAAAACTTTATTTAGAAAACAAAAACTTATGGCAATGTATCTCTTCAATAATTTATCAAAGACCATTGATACTTATTTTGTTAAAAGAATAACTTAAATTTAAATCTTACCTTGCTACATTTCAAACAGCCTGCGAGAAATTTCTTTATCTCCACATCATTTCCAGGTAAAAGTTTTAGTGAGAGGTGTGTAAGATGCTTAAAAGGATTTGTCTCTACCACATTTAAAAATGCAG... |
Task1_train_1352 | Here is a genetic alteration in DBT (dihydrolipoamide branched chain transacylase E2) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Maple syrup urine disease type 2 | GATCCTCTTGTCTCAGCTTCCTGAGTAGCTGGGACTATAGGTGCACACCACCACACTTGGCTTTTTGGTTTTTTTTTTTTTTTCTGAGACAAAGTGTTGCTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCTCTGCTCACTGTAACCTCCACCTCTTGGGCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAGGCCCAGGTAATTTTTTGTATTTTTACAAAACTGTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTCGAACTCCTGACCTCAGGTGATCTGG... | GATCCTCTTGTCTCAGCTTCCTGAGTAGCTGGGACTATAGGTGCACACCACCACACTTGGCTTTTTGGTTTTTTTTTTTTTTTCTGAGACAAAGTGTTGCTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCTCTGCTCACTGTAACCTCCACCTCTTGGGCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAGGCCCAGGTAATTTTTTGTATTTTTACAAAACTGTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTCGAACTCCTGACCTCAGGTGATCTGG... |
Task1_train_1353 | A variant affecting Chromosome 1, within the gene DBT (dihydrolipoamide branched chain transacylase E2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Maple syrup urine disease | GATCCTCTTGTCTCAGCTTCCTGAGTAGCTGGGACTATAGGTGCACACCACCACACTTGGCTTTTTGGTTTTTTTTTTTTTTTCTGAGACAAAGTGTTGCTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCTCTGCTCACTGTAACCTCCACCTCTTGGGCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAGGCCCAGGTAATTTTTTGTATTTTTACAAAACTGTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTCGAACTCCTGACCTCAGGTGATCTGG... | GATCCTCTTGTCTCAGCTTCCTGAGTAGCTGGGACTATAGGTGCACACCACCACACTTGGCTTTTTGGTTTTTTTTTTTTTTTCTGAGACAAAGTGTTGCTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCTCTGCTCACTGTAACCTCCACCTCTTGGGCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAGGCCCAGGTAATTTTTTGTATTTTTACAAAACTGTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTCGAACTCCTGACCTCAGGTGATCTGG... |
Task1_train_1354 | This sequence change occurs on Chromosome 1, altering DBT (dihydrolipoamide branched chain transacylase E2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Maple syrup urine disease type 2 | GGGACTATAGGTGCACACCACCACACTTGGCTTTTTGGTTTTTTTTTTTTTTTCTGAGACAAAGTGTTGCTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCTCTGCTCACTGTAACCTCCACCTCTTGGGCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAGGCCCAGGTAATTTTTTGTATTTTTACAAAACTGTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTCGAACTCCTGACCTCAGGTGATCTGGCCACCTCGGCCTCCCAAAGTGCTGGGATTA... | GGGACTATAGGTGCACACCACCACACTTGGCTTTTTGGTTTTTTTTTTTTTTTCTGAGACAAAGTGTTGCTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCTCTGCTCACTGTAACCTCCACCTCTTGGGCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAGGCCCAGGTAATTTTTTGTATTTTTACAAAACTGTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTCGAACTCCTGACCTCAGGTGATCTGGCCACCTCGGCCTCCCAAAGTGCTGGGATTA... |
Task1_train_1355 | Given this context: Chromosome 1, gene DBT (dihydrolipoamide branched chain transacylase E2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Maple syrup urine disease | AGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATCAATGTGCAAAAATCACAAGCATTCCTATACACCAATAACAGACAAACAGAGAGCCAAATCATGAGGAAACTCCCATTCACAATTGCTATAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAGGGACCTCTTCAAGGAGAATTACAAACCACTGCTCAAGGAAATACAAGGGGACACAAACAAATGGAAAAACATTCCATGCTCATGGATAGGAAGAATCAATATTGTGAAAATGGCCAAACTGCCCAAAGTAATTTATAGATTCAAT... | AGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATCAATGTGCAAAAATCACAAGCATTCCTATACACCAATAACAGACAAACAGAGAGCCAAATCATGAGGAAACTCCCATTCACAATTGCTATAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAGGGACCTCTTCAAGGAGAATTACAAACCACTGCTCAAGGAAATACAAGGGGACACAAACAAATGGAAAAACATTCCATGCTCATGGATAGGAAGAATCAATATTGTGAAAATGGCCAAACTGCCCAAAGTAATTTATAGATTCAAT... |
Task1_train_1356 | A genomic change on Chromosome 1 affects DBT (dihydrolipoamide branched chain transacylase E2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Maple syrup urine disease | TGACTTTCTTCACAGAATTAGAAAAAACTACTTTAAATTTTATATGGAACCAAAAAAAAAGCCCACATAGCCAAGATAATCCTAAACAAAAAGAAGGAAGCTGGAGGCATCATGCTACCTGACCTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATGGTAATGGTACCAAAACAGAGAGATAGACCAATGGAACCGCACAGGGGCCTCAGAAATAACACCACACATCTACAACCCATCTGATCTTTGACAAACCTGACAAAAACAAGCAATGCGGAAAGGATTCCCTATTTAATAAATGGTGTTGGGACAACT... | TGACTTTCTTCACAGAATTAGAAAAAACTACTTTAAATTTTATATGGAACCAAAAAAAAAGCCCACATAGCCAAGATAATCCTAAACAAAAAGAAGGAAGCTGGAGGCATCATGCTACCTGACCTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATGGTAATGGTACCAAAACAGAGAGATAGACCAATGGAACCGCACAGGGGCCTCAGAAATAACACCACACATCTACAACCCATCTGATCTTTGACAAACCTGACAAAAACAAGCAATGCGGAAAGGATTCCCTATTTAATAAATGGTGTTGGGACAACT... |
Task1_train_1357 | This alteration in DBT (dihydrolipoamide branched chain transacylase E2) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Maple syrup urine disease | ATGAACAAAGCAAACAGATTGGACTACAGCATATACAATATATTATTTTGGTTAAAAAAATACCTACATGTACACATATGACCTAGAAAAATATCTGGAATGATATACACGAATGCATTGAGTGTGATTTGTGAACATTAGGGTTTTTGTTGTTGTTTTGGCTTTCTGTATTTTAGAACTTTCTGCAATGCACCCCTCCTGCTTTTATAATAATAAAAAGTAGTAGGAAGCCTTCAATAAATCACCTTCTAGCTTTTAGAAGCAACATGTCATAGAAAATATTCTGGACAAAGACTCAGGTCATCTAAGTTCTAACTTTG... | ATGAACAAAGCAAACAGATTGGACTACAGCATATACAATATATTATTTTGGTTAAAAAAATACCTACATGTACACATATGACCTAGAAAAATATCTGGAATGATATACACGAATGCATTGAGTGTGATTTGTGAACATTAGGGTTTTTGTTGTTGTTTTGGCTTTCTGTATTTTAGAACTTTCTGCAATGCACCCCTCCTGCTTTTATAATAATAAAAAGTAGTAGGAAGCCTTCAATAAATCACCTTCTAGCTTTTAGAAGCAACATGTCATAGAAAATATTCTGGACAAAGACTCAGGTCATCTAAGTTCTAACTTTG... |
Task1_train_1358 | A genomic change on Chromosome 1 affects DBT (dihydrolipoamide branched chain transacylase E2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Maple syrup urine disease type 2 | ATTGGACTACAGCATATACAATATATTATTTTGGTTAAAAAAATACCTACATGTACACATATGACCTAGAAAAATATCTGGAATGATATACACGAATGCATTGAGTGTGATTTGTGAACATTAGGGTTTTTGTTGTTGTTTTGGCTTTCTGTATTTTAGAACTTTCTGCAATGCACCCCTCCTGCTTTTATAATAATAAAAAGTAGTAGGAAGCCTTCAATAAATCACCTTCTAGCTTTTAGAAGCAACATGTCATAGAAAATATTCTGGACAAAGACTCAGGTCATCTAAGTTCTAACTTTGGTCCTGTCACCAACCAT... | ATTGGACTACAGCATATACAATATATTATTTTGGTTAAAAAAATACCTACATGTACACATATGACCTAGAAAAATATCTGGAATGATATACACGAATGCATTGAGTGTGATTTGTGAACATTAGGGTTTTTGTTGTTGTTTTGGCTTTCTGTATTTTAGAACTTTCTGCAATGCACCCCTCCTGCTTTTATAATAATAAAAAGTAGTAGGAAGCCTTCAATAAATCACCTTCTAGCTTTTAGAAGCAACATGTCATAGAAAATATTCTGGACAAAGACTCAGGTCATCTAAGTTCTAACTTTGGTCCTGTCACCAACCAT... |
Task1_train_1359 | This genomic variant is located on Chromosome 1, within the DBT (dihydrolipoamide branched chain transacylase E2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Maple syrup urine disease type 1A | ATACCTACATGTACACATATGACCTAGAAAAATATCTGGAATGATATACACGAATGCATTGAGTGTGATTTGTGAACATTAGGGTTTTTGTTGTTGTTTTGGCTTTCTGTATTTTAGAACTTTCTGCAATGCACCCCTCCTGCTTTTATAATAATAAAAAGTAGTAGGAAGCCTTCAATAAATCACCTTCTAGCTTTTAGAAGCAACATGTCATAGAAAATATTCTGGACAAAGACTCAGGTCATCTAAGTTCTAACTTTGGTCCTGTCACCAACCATTGAGCAAATTGTCCAACCTTTCTTTTTTTTCCTTTTTTTTAA... | ATACCTACATGTACACATATGACCTAGAAAAATATCTGGAATGATATACACGAATGCATTGAGTGTGATTTGTGAACATTAGGGTTTTTGTTGTTGTTTTGGCTTTCTGTATTTTAGAACTTTCTGCAATGCACCCCTCCTGCTTTTATAATAATAAAAAGTAGTAGGAAGCCTTCAATAAATCACCTTCTAGCTTTTAGAAGCAACATGTCATAGAAAATATTCTGGACAAAGACTCAGGTCATCTAAGTTCTAACTTTGGTCCTGTCACCAACCATTGAGCAAATTGTCCAACCTTTCTTTTTTTTCCTTTTTTTTAA... |
Task1_train_1360 | With a mutation on Chromosome 1 in gene DBT (dihydrolipoamide branched chain transacylase E2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Maple syrup urine disease | ATACCTACATGTACACATATGACCTAGAAAAATATCTGGAATGATATACACGAATGCATTGAGTGTGATTTGTGAACATTAGGGTTTTTGTTGTTGTTTTGGCTTTCTGTATTTTAGAACTTTCTGCAATGCACCCCTCCTGCTTTTATAATAATAAAAAGTAGTAGGAAGCCTTCAATAAATCACCTTCTAGCTTTTAGAAGCAACATGTCATAGAAAATATTCTGGACAAAGACTCAGGTCATCTAAGTTCTAACTTTGGTCCTGTCACCAACCATTGAGCAAATTGTCCAACCTTTCTTTTTTTTCCTTTTTTTTAA... | ATACCTACATGTACACATATGACCTAGAAAAATATCTGGAATGATATACACGAATGCATTGAGTGTGATTTGTGAACATTAGGGTTTTTGTTGTTGTTTTGGCTTTCTGTATTTTAGAACTTTCTGCAATGCACCCCTCCTGCTTTTATAATAATAAAAAGTAGTAGGAAGCCTTCAATAAATCACCTTCTAGCTTTTAGAAGCAACATGTCATAGAAAATATTCTGGACAAAGACTCAGGTCATCTAAGTTCTAACTTTGGTCCTGTCACCAACCATTGAGCAAATTGTCCAACCTTTCTTTTTTTTCCTTTTTTTTAA... |
Task1_train_1361 | With a mutation on Chromosome 1 in gene DPH5, SLC30A7 (diphthamide biosynthesis 5| solute carrier family 30 member 7), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties | ACCAGAAGTCCTTCATTATATAGTTCTTAAATGTTTAGTTTAACATATGAGAAGAAAATAATATACAACTGGTATTTAAATGTACTTGGCTCTCTCCCCTTCTGTGTCTAACAGATTGAAAATGAGGCCAGGCATAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACACACACACACACAAAATAGCCAGGTGTGGTGCCGCCACATGACTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGG... | ACCAGAAGTCCTTCATTATATAGTTCTTAAATGTTTAGTTTAACATATGAGAAGAAAATAATATACAACTGGTATTTAAATGTACTTGGCTCTCTCCCCTTCTGTGTCTAACAGATTGAAAATGAGGCCAGGCATAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACACACACACACACAAAATAGCCAGGTGTGGTGCCGCCACATGACTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGG... |
Task1_train_1362 | The gene DPH5 (diphthamide biosynthesis 5) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; DPH5-related diphthamide-deficiency syndrome | GCAAAAAAATTAATTAAAAATAGCTTAATTTAGAGCAAAATATGGAGAAAGGGCTAGTTAACTTTCTTTACAAGACACAAAATTATATGAAATATGGTAAAAATGTATGTCCTATTAGCTTAAGGTTTACATATCTTTATTTATCAAATGATAATTTCTCTCCTTTTTTTCTTTCTTCTAGCAATTATCAATTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCACTCTTGTCACCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCGCCTTGTGGATTAGGGTGATTCTCCTGCCTCAGCC... | GCAAAAAAATTAATTAAAAATAGCTTAATTTAGAGCAAAATATGGAGAAAGGGCTAGTTAACTTTCTTTACAAGACACAAAATTATATGAAATATGGTAAAAATGTATGTCCTATTAGCTTAAGGTTTACATATCTTTATTTATCAAATGATAATTTCTCTCCTTTTTTTCTTTCTTCTAGCAATTATCAATTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCACTCTTGTCACCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCGCCTTGTGGATTAGGGTGATTCTCCTGCCTCAGCC... |
Task1_train_1363 | This genomic variant is located on Chromosome 1, within the DPH5 (diphthamide biosynthesis 5) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties | GCAAAAAAATTAATTAAAAATAGCTTAATTTAGAGCAAAATATGGAGAAAGGGCTAGTTAACTTTCTTTACAAGACACAAAATTATATGAAATATGGTAAAAATGTATGTCCTATTAGCTTAAGGTTTACATATCTTTATTTATCAAATGATAATTTCTCTCCTTTTTTTCTTTCTTCTAGCAATTATCAATTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCACTCTTGTCACCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCGCCTTGTGGATTAGGGTGATTCTCCTGCCTCAGCC... | GCAAAAAAATTAATTAAAAATAGCTTAATTTAGAGCAAAATATGGAGAAAGGGCTAGTTAACTTTCTTTACAAGACACAAAATTATATGAAATATGGTAAAAATGTATGTCCTATTAGCTTAAGGTTTACATATCTTTATTTATCAAATGATAATTTCTCTCCTTTTTTTCTTTCTTCTAGCAATTATCAATTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCACTCTTGTCACCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCGCCTTGTGGATTAGGGTGATTCTCCTGCCTCAGCC... |
Task1_train_1364 | A change on Chromosome 1 affects gene COL11A1 (collagen type XI alpha 1 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | TCCAAAAATGATCTTGTCATAATTTAATAAAATCCCATTTAACAGACAAGGATTTTCCAAAGCAAATCTTGATTTATGCAGTATAAATGATTTTTTCTGTCTAGAAGATAATTAATAACTGTTTCATTTTATTTAGAGACTGTATTAAACATTTAACTAGAATGAATGAGCTGCCAATGCACCTCAGAAACTCAGGGGCTCGGTACATTTGCTTTGTCATGTATTATTTACATACCATCTGGGAAGTCAGGATGGCTGAGTTGCAGGTCTTTACAAGTTCGGGCTGGATTGGTCTGAGTACCCATTGGAAATTTCATATG... | TCCAAAAATGATCTTGTCATAATTTAATAAAATCCCATTTAACAGACAAGGATTTTCCAAAGCAAATCTTGATTTATGCAGTATAAATGATTTTTTCTGTCTAGAAGATAATTAATAACTGTTTCATTTTATTTAGAGACTGTATTAAACATTTAACTAGAATGAATGAGCTGCCAATGCACCTCAGAAACTCAGGGGCTCGGTACATTTGCTTTGTCATGTATTATTTACATACCATCTGGGAAGTCAGGATGGCTGAGTTGCAGGTCTTTACAAGTTCGGGCTGGATTGGTCTGAGTACCCATTGGAAATTTCATATG... |
Task1_train_1365 | Gene COL11A1 (collagen type XI alpha 1 chain) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Marshall/Stickler syndrome | TCAATGCATTAAGTTGGGTAGAATTAAAAGGGAGGCATGAAGGGAAAAAAAAAGGACTATAGCAATTGGGGTTGAACTATGAAGATGACTTGCTGGCTAGGATAAGGAGCTTGGTTTCCAAAGGCAGTGTGGAACTATAGGATGGGTATGATAGAGGAATGCCATAGTTAAGGATGTATGTTAAACTAGTATTCTATAGGTGAAACTGACTGAAGGGGATAAGAAAATGAATCAAAAGATAAGATGTTATTAGTCAAAGAGAAAGGAAGAGGAAAGAGTCTGAACAAAATGGTGGTGGTAGAAATGAAGAAAGCGGAAAA... | TCAATGCATTAAGTTGGGTAGAATTAAAAGGGAGGCATGAAGGGAAAAAAAAAGGACTATAGCAATTGGGGTTGAACTATGAAGATGACTTGCTGGCTAGGATAAGGAGCTTGGTTTCCAAAGGCAGTGTGGAACTATAGGATGGGTATGATAGAGGAATGCCATAGTTAAGGATGTATGTTAAACTAGTATTCTATAGGTGAAACTGACTGAAGGGGATAAGAAAATGAATCAAAAGATAAGATGTTATTAGTCAAAGAGAAAGGAAGAGGAAAGAGTCTGAACAAAATGGTGGTGGTAGAAATGAAGAAAGCGGAAAA... |
Task1_train_1366 | Here’s a variant in COL11A1 (collagen type XI alpha 1 chain) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | ATAGTTATTGAAAATGAATCCACCTAGATTACTAAAACAACAAAACAAAACAAAAATTCCCAAGAGGTACTTGTCTCACTCTCAAAGTGTTTTTAAAAGTAATCATACTGTTGGATGACAGTATTGCTGTTTTTCAAATTAAAATGCAGTATCAGCAAAAGCATATTCACTTGTAAGGAAATATTATTGATCATAACATTTTGGAAGACAAAACCAAATGCATGAGAGAATCAGTGGTGCTCTAAAAACAAAACTCACAGTTGTGCTAATTTTTGTTAAATTGTTCTACTCCATTTAATTATTTAGCCTTTTTAATTAAT... | ATAGTTATTGAAAATGAATCCACCTAGATTACTAAAACAACAAAACAAAACAAAAATTCCCAAGAGGTACTTGTCTCACTCTCAAAGTGTTTTTAAAAGTAATCATACTGTTGGATGACAGTATTGCTGTTTTTCAAATTAAAATGCAGTATCAGCAAAAGCATATTCACTTGTAAGGAAATATTATTGATCATAACATTTTGGAAGACAAAACCAAATGCATGAGAGAATCAGTGGTGCTCTAAAAACAAAACTCACAGTTGTGCTAATTTTTGTTAAATTGTTCTACTCCATTTAATTATTTAGCCTTTTTAATTAAT... |
Task1_train_1367 | This variant impacts the gene COL11A1 (collagen type XI alpha 1 chain) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Fibrochondrogenesis | AACATTTTATCTTTAATGTAGTAAGAACTCAATTTCTGACACCAGTTATTGAAAGAAATTTAAATGATAATGAAACATCAGCTGCAAGAGTACCAGTGAATTTAAAGTCATTTACCAACCTTTTCTCCTGCTTGACCTGAAGGACCTGGGTCTCCAGTTGGGCCTGCTCGACCTTTGGGTCCTTCAGGGCCATCTTCCCCTCTTGGGCCAATTTGACCAACTTCTCCCTGAGGCACAGAATAACAACATTCTTATGAGTGAAACGTCCTTTACAAAAATTGTAACAGGGAAAAAATTATGACAGTGAAAGAGATCTGATA... | AACATTTTATCTTTAATGTAGTAAGAACTCAATTTCTGACACCAGTTATTGAAAGAAATTTAAATGATAATGAAACATCAGCTGCAAGAGTACCAGTGAATTTAAAGTCATTTACCAACCTTTTCTCCTGCTTGACCTGAAGGACCTGGGTCTCCAGTTGGGCCTGCTCGACCTTTGGGTCCTTCAGGGCCATCTTCCCCTCTTGGGCCAATTTGACCAACTTCTCCCTGAGGCACAGAATAACAACATTCTTATGAGTGAAACGTCCTTTACAAAAATTGTAACAGGGAAAAAATTATGACAGTGAAAGAGATCTGATA... |
Task1_train_1368 | Gene COL11A1 (collagen type XI alpha 1 chain) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | CCCAGTCATATTATAATTTTTTAATTTAATTTTTTGTTTTTCTAGTATCTTTGATCTATGGTTTATTGAATCCATGGATGCAGAACCCATAGGGAGAGCCAACTGGTACTCTGAAGTTCATCTAGGTGATCAGGATGAACTGAGATTACCGTTAAGTAGGTGAGCTAATGTGAAATGCATGGCCTTTTTCATGTAATAAATCTGACAACATAGTTGTTTACTTTTAGTATATAACAGTAGCTTTTTCCAGATAAAGTATAATGGATATAATAAATCCATCCCTTTTTGTTATCCATTCCCTATTGGTATCAAATCCACAC... | CCCAGTCATATTATAATTTTTTAATTTAATTTTTTGTTTTTCTAGTATCTTTGATCTATGGTTTATTGAATCCATGGATGCAGAACCCATAGGGAGAGCCAACTGGTACTCTGAAGTTCATCTAGGTGATCAGGATGAACTGAGATTACCGTTAAGTAGGTGAGCTAATGTGAAATGCATGGCCTTTTTCATGTAATAAATCTGACAACATAGTTGTTTACTTTTAGTATATAACAGTAGCTTTTTCCAGATAAAGTATAATGGATATAATAAATCCATCCCTTTTTGTTATCCATTCCCTATTGGTATCAAATCCACAC... |
Task1_train_1369 | The gene COL11A1 (collagen type XI alpha 1 chain), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Stickler syndrome type 2 | CCTCATGAGATTCTGGAAAATATTTCAAAATATTAATGCAAGCTGTATCTAATATACTTAGCAAAATGTAATAAATCATTATATTTTAGATTTAACAACAAAAAATGGTTTCTTAGGGCTTATATTCAAATATGAGTTATTTTATCACTATTTGCTACATACCATGTTCCCTTTTGGTCCTGGGGGGCCATCTACACCTGCCATACCCTGCAATGAAGAAAAAGTATTTATGGTTGTTTATATGTTTTGATGCTAAAACAGAAAATCAAAAAGACTAATCTAATATCATGATATTCACTACCCTAAGCAACTAAAAATCA... | CCTCATGAGATTCTGGAAAATATTTCAAAATATTAATGCAAGCTGTATCTAATATACTTAGCAAAATGTAATAAATCATTATATTTTAGATTTAACAACAAAAAATGGTTTCTTAGGGCTTATATTCAAATATGAGTTATTTTATCACTATTTGCTACATACCATGTTCCCTTTTGGTCCTGGGGGGCCATCTACACCTGCCATACCCTGCAATGAAGAAAAAGTATTTATGGTTGTTTATATGTTTTGATGCTAAAACAGAAAATCAAAAAGACTAATCTAATATCATGATATTCACTACCCTAAGCAACTAAAAATCA... |
Task1_train_1370 | A variant affecting Chromosome 1, within the gene COL11A1 (collagen type XI alpha 1 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | CTGTAACAAAAGGAGCTCTATATATCCTTTTTAATTTTTTTCGCATGGCAATTATCTGGTTAGCTTAGCTAAGACTGCAATGTTTACCTGGGTTTATCATTGTTTTTATATGTGTAACACCAGTCACTAGTCCTAAAAACTAGAAATATTACTTAAAAATAAAAAGTAAGTTGCTTACAGCTTCACCTGGAAGACCTCTTGGTCCAATTTCTCCATCTTCTCCCTGTCATTGACAAAATGAATGAGAGTATAGAACATTTGGACAATGTATCATTTCAACATGATTTTGTTTTATTATGTTTTAATTTTAAATATTTCTT... | CTGTAACAAAAGGAGCTCTATATATCCTTTTTAATTTTTTTCGCATGGCAATTATCTGGTTAGCTTAGCTAAGACTGCAATGTTTACCTGGGTTTATCATTGTTTTTATATGTGTAACACCAGTCACTAGTCCTAAAAACTAGAAATATTACTTAAAAATAAAAAGTAAGTTGCTTACAGCTTCACCTGGAAGACCTCTTGGTCCAATTTCTCCATCTTCTCCCTGTCATTGACAAAATGAATGAGAGTATAGAACATTTGGACAATGTATCATTTCAACATGATTTTGTTTTATTATGTTTTAATTTTAAATATTTCTT... |
Task1_train_1371 | Here is a genetic alteration in COL11A1 (collagen type XI alpha 1 chain) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | GTGGAAAGAGACCAAATTGTTTTTGAAATTTCATATATACATACAATAATATAATTTAGAAAGTAAGACCTGAATCTTATATCTGATGGCTGTTTGAGTATATGAATTAGATAAATACTAAATTTCATCCAATTCAAAGATTCCTACTCTACAGACTTCTAAATATTTTATTAAGTAAAAATTGTTTCCCCTTTAACTGGTCAAAGATTGTAAAAGATAAACTGAGAGAGTAAGTTCTTTATTCATTAACATTTTAAAAACTAACTACACTTAATAGTAAATAAATGTTTTATTTAAAACTTCATAGGGTTTCATGAAAC... | GTGGAAAGAGACCAAATTGTTTTTGAAATTTCATATATACATACAATAATATAATTTAGAAAGTAAGACCTGAATCTTATATCTGATGGCTGTTTGAGTATATGAATTAGATAAATACTAAATTTCATCCAATTCAAAGATTCCTACTCTACAGACTTCTAAATATTTTATTAAGTAAAAATTGTTTCCCCTTTAACTGGTCAAAGATTGTAAAAGATAAACTGAGAGAGTAAGTTCTTTATTCATTAACATTTTAAAAACTAACTACACTTAATAGTAAATAAATGTTTTATTTAAAACTTCATAGGGTTTCATGAAAC... |
Task1_train_1372 | The gene RNPC3 (RNA binding region (RNP1, RRM) containing 3) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Isolated growth hormone deficiency, type 5 | AAAATTTGTTGTCTATGATAAGCAGTCTCAGTAAACTTATTAAAGCATTAACCTGATTGAAATAGGTTTGAAACTGAATAGGCAGAGAGGAGTTGTAGATAGAGGGTTTAGATAGCTTGTACAGAGTTTTACTGCAAAACTAATAATACAAATTTAGGATGGGAGAAATAGGAGCATGTTTTCATACTGATACGGATAATCCAATAGAGGACAGTAAATTAACAGTATAAATAAGATCACCCTCCACACCCCTCACCACACACAATTCCAGAGCATAGCTAAGTAAAGACCCTTGAGGAGATGAGAGGATGGAATTTAGT... | AAAATTTGTTGTCTATGATAAGCAGTCTCAGTAAACTTATTAAAGCATTAACCTGATTGAAATAGGTTTGAAACTGAATAGGCAGAGAGGAGTTGTAGATAGAGGGTTTAGATAGCTTGTACAGAGTTTTACTGCAAAACTAATAATACAAATTTAGGATGGGAGAAATAGGAGCATGTTTTCATACTGATACGGATAATCCAATAGAGGACAGTAAATTAACAGTATAAATAAGATCACCCTCCACACCCCTCACCACACACAATTCCAGAGCATAGCTAAGTAAAGACCCTTGAGGAGATGAGAGGATGGAATTTAGT... |
Task1_train_1373 | The gene RNPC3 (RNA binding region (RNP1, RRM) containing 3), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Isolated growth hormone deficiency, type 5 | ATGTATGAACACATTTCACTCTTATTTTTTAAATGAACATAATGTTTTGACGGTATTTATCATTCACTCATTAATGACTTGTTGAAAGTTTGTTATCTAGCGGCCTCCATGGAGAAGTTTGCCATGGTCTCTTTTTTGAAGTTTACAATCTAGTTAGGGGTAGCTTACTATGTCAAAGCATAAACATATACTTTACATTTTTTGGCTGTATAATAGCCCTTAATATAATTTTGTCAATATTTTATCATGCCTTTTTCATAGAAGTTGAGGTTGTTTCCCTTCTTTTACTATTGCAGAAAATACTGGAATATGTCTTTGCA... | ATGTATGAACACATTTCACTCTTATTTTTTAAATGAACATAATGTTTTGACGGTATTTATCATTCACTCATTAATGACTTGTTGAAAGTTTGTTATCTAGCGGCCTCCATGGAGAAGTTTGCCATGGTCTCTTTTTTGAAGTTTACAATCTAGTTAGGGGTAGCTTACTATGTCAAAGCATAAACATATACTTTACATTTTTTGGCTGTATAATAGCCCTTAATATAATTTTGTCAATATTTTATCATGCCTTTTTCATAGAAGTTGAGGTTGTTTCCCTTCTTTTACTATTGCAGAAAATACTGGAATATGTCTTTGCA... |
Task1_train_1374 | Gene RNPC3 (RNA binding region (RNP1, RRM) containing 3) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Isolated growth hormone deficiency, type 5 | TGCGGGCAAACTGCCATTATTTTAAAACCATCAAACCTTGTGAGACTCATGTACTATCATGAGAACACAGGAAAGACCCACCCCTATAATTCAATCACCTTTCACAGCGTTCCTCCCATGACACATGGGAATTGTAGGAGTTACAATTCAAATGAGATTTGGGGACACAGAGCCAAACCATATCAGCTAATGTTTGGAGTTAGAATTTCATTCTTTACAATACCGTATTTGTTAATTCCAAAGTATGAAAGACTCCCTGTCATATAAATTAAAAGTAAGAAGAAGTAGAAAAGGTAAGAGGCTTTTGAGTGCAGATAAAA... | TGCGGGCAAACTGCCATTATTTTAAAACCATCAAACCTTGTGAGACTCATGTACTATCATGAGAACACAGGAAAGACCCACCCCTATAATTCAATCACCTTTCACAGCGTTCCTCCCATGACACATGGGAATTGTAGGAGTTACAATTCAAATGAGATTTGGGGACACAGAGCCAAACCATATCAGCTAATGTTTGGAGTTAGAATTTCATTCTTTACAATACCGTATTTGTTAATTCCAAAGTATGAAAGACTCCCTGTCATATAAATTAAAAGTAAGAAGAAGTAGAAAAGGTAAGAGGCTTTTGAGTGCAGATAAAA... |
Task1_train_1375 | This alteration in RNPC3 (RNA binding region (RNP1, RRM) containing 3) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Decreased response to growth hormone stimulation test | TGCGGGCAAACTGCCATTATTTTAAAACCATCAAACCTTGTGAGACTCATGTACTATCATGAGAACACAGGAAAGACCCACCCCTATAATTCAATCACCTTTCACAGCGTTCCTCCCATGACACATGGGAATTGTAGGAGTTACAATTCAAATGAGATTTGGGGACACAGAGCCAAACCATATCAGCTAATGTTTGGAGTTAGAATTTCATTCTTTACAATACCGTATTTGTTAATTCCAAAGTATGAAAGACTCCCTGTCATATAAATTAAAAGTAAGAAGAAGTAGAAAAGGTAAGAGGCTTTTGAGTGCAGATAAAA... | TGCGGGCAAACTGCCATTATTTTAAAACCATCAAACCTTGTGAGACTCATGTACTATCATGAGAACACAGGAAAGACCCACCCCTATAATTCAATCACCTTTCACAGCGTTCCTCCCATGACACATGGGAATTGTAGGAGTTACAATTCAAATGAGATTTGGGGACACAGAGCCAAACCATATCAGCTAATGTTTGGAGTTAGAATTTCATTCTTTACAATACCGTATTTGTTAATTCCAAAGTATGAAAGACTCCCTGTCATATAAATTAAAAGTAAGAAGAAGTAGAAAAGGTAAGAGGCTTTTGAGTGCAGATAAAA... |
Task1_train_1376 | This sequence variant lies in RNPC3 (RNA binding region (RNP1, RRM) containing 3) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Isolated growth hormone deficiency, type 5 | ATCAAACCTTGTGAGACTCATGTACTATCATGAGAACACAGGAAAGACCCACCCCTATAATTCAATCACCTTTCACAGCGTTCCTCCCATGACACATGGGAATTGTAGGAGTTACAATTCAAATGAGATTTGGGGACACAGAGCCAAACCATATCAGCTAATGTTTGGAGTTAGAATTTCATTCTTTACAATACCGTATTTGTTAATTCCAAAGTATGAAAGACTCCCTGTCATATAAATTAAAAGTAAGAAGAAGTAGAAAAGGTAAGAGGCTTTTGAGTGCAGATAAAATAAAGAAGTGACTATAACTAAATTTTGTT... | ATCAAACCTTGTGAGACTCATGTACTATCATGAGAACACAGGAAAGACCCACCCCTATAATTCAATCACCTTTCACAGCGTTCCTCCCATGACACATGGGAATTGTAGGAGTTACAATTCAAATGAGATTTGGGGACACAGAGCCAAACCATATCAGCTAATGTTTGGAGTTAGAATTTCATTCTTTACAATACCGTATTTGTTAATTCCAAAGTATGAAAGACTCCCTGTCATATAAATTAAAAGTAAGAAGAAGTAGAAAAGGTAAGAGGCTTTTGAGTGCAGATAAAATAAAGAAGTGACTATAACTAAATTTTGTT... |
Task1_train_1377 | Located on Chromosome 1, this mutation impacts SLC25A24 (solute carrier family 25 member 24). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Fontaine progeroid syndrome | AAATTATGTATCAGGCAATGGAACACCCTTTGAAACATGAACAGGCTCAGTTAAAGGGAAATAAAAAAGTATACTGCAGATAATAATATTATATTATTACATATAATTTAATGTATGTATATTATTACATATAATTTAAAGTAATATGTTACTCCCTCTCCTCAAGAAGTAGTACAGACATGAACTGTAAATGGGTCTGAAATGGTTTGGATATTGTGTATATCAGGGCTACCAACACTGGAATGCATACAGCCTGAAACCAAAAATAAAAATTGCACCCTCTTTGGCATATTTTGAGGCCCTCTCTAGGCAATAAATTC... | AAATTATGTATCAGGCAATGGAACACCCTTTGAAACATGAACAGGCTCAGTTAAAGGGAAATAAAAAAGTATACTGCAGATAATAATATTATATTATTACATATAATTTAATGTATGTATATTATTACATATAATTTAAAGTAATATGTTACTCCCTCTCCTCAAGAAGTAGTACAGACATGAACTGTAAATGGGTCTGAAATGGTTTGGATATTGTGTATATCAGGGCTACCAACACTGGAATGCATACAGCCTGAAACCAAAAATAAAAATTGCACCCTCTTTGGCATATTTTGAGGCCCTCTCTAGGCAATAAATTC... |
Task1_train_1378 | Given a variant located on Chromosome 1 and affecting SLC25A24 (solute carrier family 25 member 24), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Fontaine progeroid syndrome | AATTATGTATCAGGCAATGGAACACCCTTTGAAACATGAACAGGCTCAGTTAAAGGGAAATAAAAAAGTATACTGCAGATAATAATATTATATTATTACATATAATTTAATGTATGTATATTATTACATATAATTTAAAGTAATATGTTACTCCCTCTCCTCAAGAAGTAGTACAGACATGAACTGTAAATGGGTCTGAAATGGTTTGGATATTGTGTATATCAGGGCTACCAACACTGGAATGCATACAGCCTGAAACCAAAAATAAAAATTGCACCCTCTTTGGCATATTTTGAGGCCCTCTCTAGGCAATAAATTCA... | AATTATGTATCAGGCAATGGAACACCCTTTGAAACATGAACAGGCTCAGTTAAAGGGAAATAAAAAAGTATACTGCAGATAATAATATTATATTATTACATATAATTTAATGTATGTATATTATTACATATAATTTAAAGTAATATGTTACTCCCTCTCCTCAAGAAGTAGTACAGACATGAACTGTAAATGGGTCTGAAATGGTTTGGATATTGTGTATATCAGGGCTACCAACACTGGAATGCATACAGCCTGAAACCAAAAATAAAAATTGCACCCTCTTTGGCATATTTTGAGGCCCTCTCTAGGCAATAAATTCA... |
Task1_train_1379 | This genomic variant is located on Chromosome 1, within the HENMT1 (HEN methyltransferase 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Azoospermia | TTTCTCTGCATCCTTGCCAGCATTTACTGTCTTTTTAATAACAGCCATTCTAAATGGGGTGAGATATCTCACTGTGGTTGAGTTGCATTTCCCTGATGACTAGTGATGTTGAGCATTTTTTCATCTACTTGTTAACCATCTGTATGTCTTTTGAGAAATATCTGTTCAGGTCCTTTGCCCACTTTTTATTTGGGGTTTTTTTGCTGTTGAGATTCTTGTATATTCTAGATATTAATCCCTTGATGAATACTTTGCAAGTATTTTCTCCCATTCTATAGGTTCTGTTCACTCTATTCTTTGCTGTGCAGAAACCTTTCAGT... | TTTCTCTGCATCCTTGCCAGCATTTACTGTCTTTTTAATAACAGCCATTCTAAATGGGGTGAGATATCTCACTGTGGTTGAGTTGCATTTCCCTGATGACTAGTGATGTTGAGCATTTTTTCATCTACTTGTTAACCATCTGTATGTCTTTTGAGAAATATCTGTTCAGGTCCTTTGCCCACTTTTTATTTGGGGTTTTTTTGCTGTTGAGATTCTTGTATATTCTAGATATTAATCCCTTGATGAATACTTTGCAAGTATTTTCTCCCATTCTATAGGTTCTGTTCACTCTATTCTTTGCTGTGCAGAAACCTTTCAGT... |
Task1_train_1380 | This sequence change occurs on Chromosome 1, altering CLCC1 (chloride channel CLIC like 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Retinal dystrophy | AACCCTTCAGCACACAATTCTACACGGGAGCAGACTTCCTACGAACTTAGCTCTGCCACCACCAACCCAGCAGGCAAGTCGCTGAGGGTAGTGGGTATTTTTCAAACATTAGAATAACTTTGTGATCATCAACTTGCATTTTTTAACGGAGTGTGGACCATGAGTTGAGCGCTGAAATGCACATCAGTGGATAAACATGACAATAATTGAGCAGCACACAGACTTAAGAAGGACACTGAGCAGAGAAGGAAATAGAAGAACACAGCAGTTTCCTTTGCTCTCAGGCAAGGTTTGTAAAACCAGTTTATTTTCTAAACCTT... | AACCCTTCAGCACACAATTCTACACGGGAGCAGACTTCCTACGAACTTAGCTCTGCCACCACCAACCCAGCAGGCAAGTCGCTGAGGGTAGTGGGTATTTTTCAAACATTAGAATAACTTTGTGATCATCAACTTGCATTTTTTAACGGAGTGTGGACCATGAGTTGAGCGCTGAAATGCACATCAGTGGATAAACATGACAATAATTGAGCAGCACACAGACTTAAGAAGGACACTGAGCAGAGAAGGAAATAGAAGAACACAGCAGTTTCCTTTGCTCTCAGGCAAGGTTTGTAAAACCAGTTTATTTTCTAAACCTT... |
Task1_train_1381 | Given this variant in gene TAF13 (TATA-box binding protein associated factor 13) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Intellectual disability, autosomal recessive 60 | AAAAAAAAAAGCTACAGTATAGCTTACAAGGGCATAAACATACCTAACACATTAAATACTACTTTATCCTTTAAATAGTCAAAAGTCAGAACAACGGCATGGTTTGCAAGGTACTTTGACTTATGTGTGGTCATTAAAACCCAGTAAGTAATTCAAGTATGGTAATATAAAGGCAGGCAATTACATGCACCAATATCACCCTAAAATCAAAGGCATAAAAATAAAGGCTGAAAACTTTGTGTTTCTCCATCTTTCATTTACATGGCTAGATATCAGAATCTTACTTTAGAAAATATACAATTATTATATATGGTTTCCCC... | AAAAAAAAAAGCTACAGTATAGCTTACAAGGGCATAAACATACCTAACACATTAAATACTACTTTATCCTTTAAATAGTCAAAAGTCAGAACAACGGCATGGTTTGCAAGGTACTTTGACTTATGTGTGGTCATTAAAACCCAGTAAGTAATTCAAGTATGGTAATATAAAGGCAGGCAATTACATGCACCAATATCACCCTAAAATCAAAGGCATAAAAATAAAGGCTGAAAACTTTGTGTTTCTCCATCTTTCATTTACATGGCTAGATATCAGAATCTTACTTTAGAAAATATACAATTATTATATATGGTTTCCCC... |
Task1_train_1382 | The gene TAF13 (TATA-box binding protein associated factor 13) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Intellectual disability, autosomal recessive 60 | GAACTCCTGACCTCCAGTGATCCACCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCACCCAGCTGTTCACCACCTTCTTACTTTGTTCAGGGCCTTAGTCCAAAGCCCAAGCCCCAACTCACTTGCTACTCTCCCTCAACACCTGTTGCAGGATCCATTATTACCTGTGGCTTACAGTCAAAGAAGCCTCTCTACTGCTGTAAAGGCAAGAGGAAAACTAATGGAGGTATGTTCTTCTGCCCTAAATTAAAACACTAATTACATTTGCTCACTTAAAAAGCAATTTATAGGCCGGGTGCAGTGG... | GAACTCCTGACCTCCAGTGATCCACCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCACCCAGCTGTTCACCACCTTCTTACTTTGTTCAGGGCCTTAGTCCAAAGCCCAAGCCCCAACTCACTTGCTACTCTCCCTCAACACCTGTTGCAGGATCCATTATTACCTGTGGCTTACAGTCAAAGAAGCCTCTCTACTGCTGTAAAGGCAAGAGGAAAACTAATGGAGGTATGTTCTTCTGCCCTAAATTAAAACACTAATTACATTTGCTCACTTAAAAAGCAATTTATAGGCCGGGTGCAGTGG... |
Task1_train_1383 | An alteration has been detected in SARS1 (seryl-tRNA synthetase 1) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Neurodevelopmental disorder with microcephaly, ataxia, and seizures | CTGAACCTGCCTGGCCCTACTGCTAAAGCGCTTGCCTCAAAGAAATAAGAGCACAGTTTGAAACACCTGCAATACAGAATACAAAATATGCTTCAGACAAATCTCTTACTCCTAATAAATTTATAATCTTCCTAGAGAACAGTTGAATGCAGCACATCAATGGAGTGCTAAATTGGTTCAGTCAAGAAAATCAGAAAGTGCAAATTAAGGGAAAGTTCTCATAAGAGAGCGGCAGTACTTAAATTTCTGCAATGTATGGGAACAATAGATAGTGGCCAGAACTATCTATCTCTGCCTCAAGCACCCCCAAAGAAAAATGC... | CTGAACCTGCCTGGCCCTACTGCTAAAGCGCTTGCCTCAAAGAAATAAGAGCACAGTTTGAAACACCTGCAATACAGAATACAAAATATGCTTCAGACAAATCTCTTACTCCTAATAAATTTATAATCTTCCTAGAGAACAGTTGAATGCAGCACATCAATGGAGTGCTAAATTGGTTCAGTCAAGAAAATCAGAAAGTGCAAATTAAGGGAAAGTTCTCATAAGAGAGCGGCAGTACTTAAATTTCTGCAATGTATGGGAACAATAGATAGTGGCCAGAACTATCTATCTCTGCCTCAAGCACCCCCAAAGAAAAATGC... |
Task1_train_1384 | A variant has been detected on Chromosome 1 in SARS1 (seryl-tRNA synthetase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Neurodevelopmental disorder with microcephaly, ataxia, and seizures | ATTTAAATAGTCATGTGTGGCTGGCTATACCATATTAGGCTGCACAGCCCTAGAGCTTTCGTATGTTGTATGTGAATGGCCCCACAGTGGCTAAATTCCTACTGCCAGGTAGCAAGGTAGTTTTCCAGGCCTCTAAACACTGATCCAGGGGAACCTTTCTTCCTTACTTTTTTTTTTTTTAATTAAAATGCTGCTACATAACAAAATTTAGAAATGGCAGAGGGAATTATCTGCTTTCCCATTGACCTAATATAACAATTGTCATCTTAAAATATTCATGTTGGGATTTTTTTCATATATATGTTGTTTTCACATACTTA... | ATTTAAATAGTCATGTGTGGCTGGCTATACCATATTAGGCTGCACAGCCCTAGAGCTTTCGTATGTTGTATGTGAATGGCCCCACAGTGGCTAAATTCCTACTGCCAGGTAGCAAGGTAGTTTTCCAGGCCTCTAAACACTGATCCAGGGGAACCTTTCTTCCTTACTTTTTTTTTTTTTAATTAAAATGCTGCTACATAACAAAATTTAGAAATGGCAGAGGGAATTATCTGCTTTCCCATTGACCTAATATAACAATTGTCATCTTAAAATATTCATGTTGGGATTTTTTTCATATATATGTTGTTTTCACATACTTA... |
Task1_train_1385 | A variant affecting Chromosome 1, within the gene SARS1 (seryl-tRNA synthetase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Cerebral arteriovenous malformation | CATGATCTCGGCTCATTGCAACCTCTACGCACCGAGTTCAAGGGATTATCCTGCCTCAGCCTGTTGAGTAGCTGGGACTACAGGCATCCACCACCATGCCCGACTAATTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCTCAGGTGAACCACCCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCATTACGCCTGGCCACACCTGGCTAATTTTTGTATGTTTAGTAGAGACGGGGTTTCACCAAGTTGTCCAGGCTGGTCTTGAACTC... | CATGATCTCGGCTCATTGCAACCTCTACGCACCGAGTTCAAGGGATTATCCTGCCTCAGCCTGTTGAGTAGCTGGGACTACAGGCATCCACCACCATGCCCGACTAATTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCTCAGGTGAACCACCCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCATTACGCCTGGCCACACCTGGCTAATTTTTGTATGTTTAGTAGAGACGGGGTTTCACCAAGTTGTCCAGGCTGGTCTTGAACTC... |
Task1_train_1386 | This variant lies on Chromosome 1 and affects the gene SARS1 (seryl-tRNA synthetase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Neurodevelopmental disorder with microcephaly, ataxia, and seizures | ATGTTACAGTGAACTTTGTCCTGTCTGAACTTTTTTTTTTTTGCATTATTTTCTTCAGTTGAACAGCAAAGTATATTCTTTAAGGATCATAACCACTAACCTGTAAGCACCAAGAAAGCAGAGACTGGTGTCCCTTTTTGCTCCACATTGGTGTTTAGTAAACGTCTCACAAGGATTAATGTATGTGGCTACCAGCACAGGTTTATTGCATACCTGCCAGCATTGACCATTATTCATCATGGATGAGTTTTCTGTATTAGATAAGTGGAAAATAGCTGGGCACAGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGC... | ATGTTACAGTGAACTTTGTCCTGTCTGAACTTTTTTTTTTTTGCATTATTTTCTTCAGTTGAACAGCAAAGTATATTCTTTAAGGATCATAACCACTAACCTGTAAGCACCAAGAAAGCAGAGACTGGTGTCCCTTTTTGCTCCACATTGGTGTTTAGTAAACGTCTCACAAGGATTAATGTATGTGGCTACCAGCACAGGTTTATTGCATACCTGCCAGCATTGACCATTATTCATCATGGATGAGTTTTCTGTATTAGATAAGTGGAAAATAGCTGGGCACAGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGC... |
Task1_train_1387 | The gene SARS1 (seryl-tRNA synthetase 1), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not specified | ACTTTTTTTTTTTTGCATTATTTTCTTCAGTTGAACAGCAAAGTATATTCTTTAAGGATCATAACCACTAACCTGTAAGCACCAAGAAAGCAGAGACTGGTGTCCCTTTTTGCTCCACATTGGTGTTTAGTAAACGTCTCACAAGGATTAATGTATGTGGCTACCAGCACAGGTTTATTGCATACCTGCCAGCATTGACCATTATTCATCATGGATGAGTTTTCTGTATTAGATAAGTGGAAAATAGCTGGGCACAGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGG... | ACTTTTTTTTTTTTGCATTATTTTCTTCAGTTGAACAGCAAAGTATATTCTTTAAGGATCATAACCACTAACCTGTAAGCACCAAGAAAGCAGAGACTGGTGTCCCTTTTTGCTCCACATTGGTGTTTAGTAAACGTCTCACAAGGATTAATGTATGTGGCTACCAGCACAGGTTTATTGCATACCTGCCAGCATTGACCATTATTCATCATGGATGAGTTTTCTGTATTAGATAAGTGGAAAATAGCTGGGCACAGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGG... |
Task1_train_1388 | Gene GNAI3, LOC129931108 (G protein subunit alpha i3| ATAC-STARR-seq lymphoblastoid active region 1445) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Auriculocondylar syndrome 1 | TCTGCTATGACCACCTTCCAGGAGTTTTCTAGTCACCAGATGCCTTGGTAAAGTTCAATACGTAATCTTTGGCTCTGAAAGCTGTTCCTGGACAAAATCTGAGCTAACTCACTGAAGAATCAACAGATTGAGGCAACCATCCGGTCAGTTACTTTTTCCTGCATCCTGCTGGTGTTGGGGTAACTCCCAATCCTAGATGAAAACCTTAGACTTTCTGTTGTCAGGTGTCCCCAGGCAATATCCTACGGGGGCATGATAGAAAAGGGTAACTCTGGGGTCAGATAGATGTACTTACTCACTGTGTGAAGTTGGGAAAGCTG... | TCTGCTATGACCACCTTCCAGGAGTTTTCTAGTCACCAGATGCCTTGGTAAAGTTCAATACGTAATCTTTGGCTCTGAAAGCTGTTCCTGGACAAAATCTGAGCTAACTCACTGAAGAATCAACAGATTGAGGCAACCATCCGGTCAGTTACTTTTTCCTGCATCCTGCTGGTGTTGGGGTAACTCCCAATCCTAGATGAAAACCTTAGACTTTCTGTTGTCAGGTGTCCCCAGGCAATATCCTACGGGGGCATGATAGAAAAGGGTAACTCTGGGGTCAGATAGATGTACTTACTCACTGTGTGAAGTTGGGAAAGCTG... |
Task1_train_1389 | This sequence variant lies in GNAI3 (G protein subunit alpha i3) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Auriculocondylar syndrome 1 | AGTTCGAGAGCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGATGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCCAAAAAATAAAGACCATGAGATTAGATAACTTAGAGAATGAGTTTAGATAGGGAAAAGGGCCAAGGAGGGACCCCTGAAGCAATATAACCTTTAGAATTCAGAAACTGGGTTG... | AGTTCGAGAGCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGATGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCCAAAAAATAAAGACCATGAGATTAGATAACTTAGAGAATGAGTTTAGATAGGGAAAAGGGCCAAGGAGGGACCCCTGAAGCAATATAACCTTTAGAATTCAGAAACTGGGTTG... |
Task1_train_1390 | An alteration has been detected in GNAT2, LOC129388577 (G protein subunit alpha transducin 2| MPRA-validated peak357 silencer) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Cone dystrophy | AGAAAGAGGACAATGGAAGTAGCCGCAAAGAATTTGTGGTTACATATGCTGTTGAACAGATGCAAAGACTCATGCATACGATTCTAGTAAGAGGAAACACCATTGGAAATATCAGATTTGGCTTATAGAATATCTACCTACTTCCTGCTCTTGTTCCCCTTGGAGAGACCAGTGCTCCAAATGTAAAAAGCAAGACAGAGAACAGCTTATCTCAATGTACCAGAGTAAAGCCAGAGAGATGTGGGATCATTCTAGTTCCCTATCTTTCTAATAGCTGTGTGACTTGTGGAAAATTATTGAGCTTTTTCTGAGTCTGTTTT... | AGAAAGAGGACAATGGAAGTAGCCGCAAAGAATTTGTGGTTACATATGCTGTTGAACAGATGCAAAGACTCATGCATACGATTCTAGTAAGAGGAAACACCATTGGAAATATCAGATTTGGCTTATAGAATATCTACCTACTTCCTGCTCTTGTTCCCCTTGGAGAGACCAGTGCTCCAAATGTAAAAAGCAAGACAGAGAACAGCTTATCTCAATGTACCAGAGTAAAGCCAGAGAGATGTGGGATCATTCTAGTTCCCTATCTTTCTAATAGCTGTGTGACTTGTGGAAAATTATTGAGCTTTTTCTGAGTCTGTTTT... |
Task1_train_1391 | This mutation is located in gene GNAT2, LOC129388577 (G protein subunit alpha transducin 2| MPRA-validated peak357 silencer) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Achromatopsia 4 | GAAGTAGCCGCAAAGAATTTGTGGTTACATATGCTGTTGAACAGATGCAAAGACTCATGCATACGATTCTAGTAAGAGGAAACACCATTGGAAATATCAGATTTGGCTTATAGAATATCTACCTACTTCCTGCTCTTGTTCCCCTTGGAGAGACCAGTGCTCCAAATGTAAAAAGCAAGACAGAGAACAGCTTATCTCAATGTACCAGAGTAAAGCCAGAGAGATGTGGGATCATTCTAGTTCCCTATCTTTCTAATAGCTGTGTGACTTGTGGAAAATTATTGAGCTTTTTCTGAGTCTGTTTTCCTATCTTATAGGGT... | GAAGTAGCCGCAAAGAATTTGTGGTTACATATGCTGTTGAACAGATGCAAAGACTCATGCATACGATTCTAGTAAGAGGAAACACCATTGGAAATATCAGATTTGGCTTATAGAATATCTACCTACTTCCTGCTCTTGTTCCCCTTGGAGAGACCAGTGCTCCAAATGTAAAAAGCAAGACAGAGAACAGCTTATCTCAATGTACCAGAGTAAAGCCAGAGAGATGTGGGATCATTCTAGTTCCCTATCTTTCTAATAGCTGTGTGACTTGTGGAAAATTATTGAGCTTTTTCTGAGTCTGTTTTCCTATCTTATAGGGT... |
Task1_train_1392 | Here is a variant affecting AMPD2 (adenosine monophosphate deaminase 2) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Pontocerebellar hypoplasia type 9 | GGAGGTGATGTCAGACCTGGAGGAGAGCAAATACCAGAATGCAGAGCTGCGGCTCTCCATTTACGGGCGCTCGAGGGATGAGTGGGACAAGCTGGCGCGCTGGGCCGTCATGCACCGCGTGCACTCCCCCAACGTGCGCTGGCTGGTGCAGGTGCCCCGCCTCTTGTGAGTGTCCCTGGAGTGGGAGGGGAACCTGCGGGGTCATATTCAAGGGGTCAGGGCCTGCCTCCTGCCCTCCTAGGATGGCTGAGCCTCCCTTGTCCCTGCCAACCCCTCTGAGTGCAAGGAAGGGCTTCCTGGTCCCATCCATGGTCTGTCCA... | GGAGGTGATGTCAGACCTGGAGGAGAGCAAATACCAGAATGCAGAGCTGCGGCTCTCCATTTACGGGCGCTCGAGGGATGAGTGGGACAAGCTGGCGCGCTGGGCCGTCATGCACCGCGTGCACTCCCCCAACGTGCGCTGGCTGGTGCAGGTGCCCCGCCTCTTGTGAGTGTCCCTGGAGTGGGAGGGGAACCTGCGGGGTCATATTCAAGGGGTCAGGGCCTGCCTCCTGCCCTCCTAGGATGGCTGAGCCTCCCTTGTCCCTGCCAACCCCTCTGAGTGCAAGGAAGGGCTTCCTGGTCCCATCCATGGTCTGTCCA... |
Task1_train_1393 | Here is a mutation in AMPD2 (adenosine monophosphate deaminase 2) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Pontocerebellar hypoplasia type 9 | ATGTCAGACCTGGAGGAGAGCAAATACCAGAATGCAGAGCTGCGGCTCTCCATTTACGGGCGCTCGAGGGATGAGTGGGACAAGCTGGCGCGCTGGGCCGTCATGCACCGCGTGCACTCCCCCAACGTGCGCTGGCTGGTGCAGGTGCCCCGCCTCTTGTGAGTGTCCCTGGAGTGGGAGGGGAACCTGCGGGGTCATATTCAAGGGGTCAGGGCCTGCCTCCTGCCCTCCTAGGATGGCTGAGCCTCCCTTGTCCCTGCCAACCCCTCTGAGTGCAAGGAAGGGCTTCCTGGTCCCATCCATGGTCTGTCCAGCCTGGC... | ATGTCAGACCTGGAGGAGAGCAAATACCAGAATGCAGAGCTGCGGCTCTCCATTTACGGGCGCTCGAGGGATGAGTGGGACAAGCTGGCGCGCTGGGCCGTCATGCACCGCGTGCACTCCCCCAACGTGCGCTGGCTGGTGCAGGTGCCCCGCCTCTTGTGAGTGTCCCTGGAGTGGGAGGGGAACCTGCGGGGTCATATTCAAGGGGTCAGGGCCTGCCTCCTGCCCTCCTAGGATGGCTGAGCCTCCCTTGTCCCTGCCAACCCCTCTGAGTGCAAGGAAGGGCTTCCTGGTCCCATCCATGGTCTGTCCAGCCTGGC... |
Task1_train_1394 | A variant was discovered in gene AMPD2 (adenosine monophosphate deaminase 2), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Pontocerebellar hypoplasia type 9 | GGCTCTCCATTTACGGGCGCTCGAGGGATGAGTGGGACAAGCTGGCGCGCTGGGCCGTCATGCACCGCGTGCACTCCCCCAACGTGCGCTGGCTGGTGCAGGTGCCCCGCCTCTTGTGAGTGTCCCTGGAGTGGGAGGGGAACCTGCGGGGTCATATTCAAGGGGTCAGGGCCTGCCTCCTGCCCTCCTAGGATGGCTGAGCCTCCCTTGTCCCTGCCAACCCCTCTGAGTGCAAGGAAGGGCTTCCTGGTCCCATCCATGGTCTGTCCAGCCTGGCCCACCTGGGTATCCTTGCTTTCCCAATATGGTTCAGATGCGCC... | GGCTCTCCATTTACGGGCGCTCGAGGGATGAGTGGGACAAGCTGGCGCGCTGGGCCGTCATGCACCGCGTGCACTCCCCCAACGTGCGCTGGCTGGTGCAGGTGCCCCGCCTCTTGTGAGTGTCCCTGGAGTGGGAGGGGAACCTGCGGGGTCATATTCAAGGGGTCAGGGCCTGCCTCCTGCCCTCCTAGGATGGCTGAGCCTCCCTTGTCCCTGCCAACCCCTCTGAGTGCAAGGAAGGGCTTCCTGGTCCCATCCATGGTCTGTCCAGCCTGGCCCACCTGGGTATCCTTGCTTTCCCAATATGGTTCAGATGCGCC... |
Task1_train_1395 | A variant has been detected on Chromosome 1 in ALX3 (ALX homeobox 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Frontorhiny | CCAGCCCATGGGGAGCACAGAACCTCAGTGGGCACCCCTTTCTTCCATTCTACCTCCTTTCCATTGTCAGTTTAGCCACAAAATTATTTTAGCTTTTTTACTGCCAGTCCCACCCTCAGTTTTCCCTGCCACATGAGCCCAGCCCTAGAGCTGAGCTTTTCTCCCTGCCTCCCAGCACAGCCAAAGCCACAGAGACCCTAGGCAGGTGACAGAGCCCAGCCTGGCATGCATCGGCCTTGAGGGCTCTGCTGCAGGACCACCTTCCCCTTCCTTGCTGGCCTCTCAGGGGTCGTGGCCAGCCTGCATCCTGGACACAGACC... | CCAGCCCATGGGGAGCACAGAACCTCAGTGGGCACCCCTTTCTTCCATTCTACCTCCTTTCCATTGTCAGTTTAGCCACAAAATTATTTTAGCTTTTTTACTGCCAGTCCCACCCTCAGTTTTCCCTGCCACATGAGCCCAGCCCTAGAGCTGAGCTTTTCTCCCTGCCTCCCAGCACAGCCAAAGCCACAGAGACCCTAGGCAGGTGACAGAGCCCAGCCTGGCATGCATCGGCCTTGAGGGCTCTGCTGCAGGACCACCTTCCCCTTCCTTGCTGGCCTCTCAGGGGTCGTGGCCAGCCTGCATCCTGGACACAGACC... |
Task1_train_1396 | This mutation occurs in ALX3 (ALX homeobox 3) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Frontorhiny | ACAAAACAACCCCTGCTTTCCAGGGATATCTAGCTGGGAGTCACAACAGAAGAAAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGAGTAATCCGTCTACCCCAGCTGGGATCAGGCTTCCTGCCCCCATGGTCATTCCTACACATGCAGGCAGGTAAGGCACCAACAGTGAAGGGGCTGTGCATACCCCATCCCCCTAGCTCCCAGATTGCCAAGATAAGAAAGCAGGCCTGCAGCAAGGTCAGCAAAAGGCCACCCCCACCTGCCCAGCTGCCTGGATTTCCTTTCTCTGCTCTCCCTCCCCTG... | ACAAAACAACCCCTGCTTTCCAGGGATATCTAGCTGGGAGTCACAACAGAAGAAAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGAGTAATCCGTCTACCCCAGCTGGGATCAGGCTTCCTGCCCCCATGGTCATTCCTACACATGCAGGCAGGTAAGGCACCAACAGTGAAGGGGCTGTGCATACCCCATCCCCCTAGCTCCCAGATTGCCAAGATAAGAAAGCAGGCCTGCAGCAAGGTCAGCAAAAGGCCACCCCCACCTGCCCAGCTGCCTGGATTTCCTTTCTCTGCTCTCCCTCCCCTG... |
Task1_train_1397 | A mutation on Chromosome 1 affecting ALX3 (ALX homeobox 3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | GTCACAACAGAAGAAAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGAGTAATCCGTCTACCCCAGCTGGGATCAGGCTTCCTGCCCCCATGGTCATTCCTACACATGCAGGCAGGTAAGGCACCAACAGTGAAGGGGCTGTGCATACCCCATCCCCCTAGCTCCCAGATTGCCAAGATAAGAAAGCAGGCCTGCAGCAAGGTCAGCAAAAGGCCACCCCCACCTGCCCAGCTGCCTGGATTTCCTTTCTCTGCTCTCCCTCCCCTGACAGAGGATGAGGGAGCTTACAGCCAGTGAATCTGGCTA... | GTCACAACAGAAGAAAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGAGTAATCCGTCTACCCCAGCTGGGATCAGGCTTCCTGCCCCCATGGTCATTCCTACACATGCAGGCAGGTAAGGCACCAACAGTGAAGGGGCTGTGCATACCCCATCCCCCTAGCTCCCAGATTGCCAAGATAAGAAAGCAGGCCTGCAGCAAGGTCAGCAAAAGGCCACCCCCACCTGCCCAGCTGCCTGGATTTCCTTTCTCTGCTCTCCCTCCCCTGACAGAGGATGAGGGAGCTTACAGCCAGTGAATCTGGCTA... |
Task1_train_1398 | This mutation is located in gene ALX3 (ALX homeobox 3) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Frontorhiny | GTGTGTGTGTGTGTGGAGTAATCCGTCTACCCCAGCTGGGATCAGGCTTCCTGCCCCCATGGTCATTCCTACACATGCAGGCAGGTAAGGCACCAACAGTGAAGGGGCTGTGCATACCCCATCCCCCTAGCTCCCAGATTGCCAAGATAAGAAAGCAGGCCTGCAGCAAGGTCAGCAAAAGGCCACCCCCACCTGCCCAGCTGCCTGGATTTCCTTTCTCTGCTCTCCCTCCCCTGACAGAGGATGAGGGAGCTTACAGCCAGTGAATCTGGCTATTGGAACTCACTTTTCTGTCACCACCCATTCTCCCTTGGGGATCC... | GTGTGTGTGTGTGTGGAGTAATCCGTCTACCCCAGCTGGGATCAGGCTTCCTGCCCCCATGGTCATTCCTACACATGCAGGCAGGTAAGGCACCAACAGTGAAGGGGCTGTGCATACCCCATCCCCCTAGCTCCCAGATTGCCAAGATAAGAAAGCAGGCCTGCAGCAAGGTCAGCAAAAGGCCACCCCCACCTGCCCAGCTGCCTGGATTTCCTTTCTCTGCTCTCCCTCCCCTGACAGAGGATGAGGGAGCTTACAGCCAGTGAATCTGGCTATTGGAACTCACTTTTCTGTCACCACCCATTCTCCCTTGGGGATCC... |
Task1_train_1399 | With a mutation on Chromosome 1 in gene SLC6A17 (solute carrier family 6 member 17), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | GATGTGGCTGAGACTGGAAGACATGGCTGCGGCCCCTTCCCTCACTCTGCTGCTGTGCTCCAGAGCCCCTCTGCCATCCCTCTGCTCTCCCCACAGGTGCTTACCTGGTGCCCTACCTGGTGCTGCTGATCATCATCGGGATCCCCCTCTTCTTCCTGGAGCTGGCTGTGGGTCAGAGGATCCGCCGCGGCAGCATCGGTGTGTGGCACTATATATGTCCCCGCCTGGGGGGCATCGGCTTCTCCAGCTGCATAGTGAGTCAAGGGCTGGGGCAGGCACTGAGTGGGAGGCAGGGGGCTGCTCCTGGGCATTGGAGACGA... | GATGTGGCTGAGACTGGAAGACATGGCTGCGGCCCCTTCCCTCACTCTGCTGCTGTGCTCCAGAGCCCCTCTGCCATCCCTCTGCTCTCCCCACAGGTGCTTACCTGGTGCCCTACCTGGTGCTGCTGATCATCATCGGGATCCCCCTCTTCTTCCTGGAGCTGGCTGTGGGTCAGAGGATCCGCCGCGGCAGCATCGGTGTGTGGCACTATATATGTCCCCGCCTGGGGGGCATCGGCTTCTCCAGCTGCATAGTGAGTCAAGGGCTGGGGCAGGCACTGAGTGGGAGGCAGGGGGCTGCTCCTGGGCATTGGAGACGA... |
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