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_24700 | A mutation on Chromosome 17 affecting SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Autosomal dominant distal renal tubular acidosis | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTT... | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTT... |
Task1_train_24701 | This alteration occurs within gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Southeast Asian ovalocytosis | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTT... | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTT... |
Task1_train_24702 | Gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; BLOOD GROUP--SWANN SYSTEM | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTT... | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTT... |
Task1_train_24703 | Given this variant in gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; BLOOD GROUP--WALDNER TYPE | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTT... | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTT... |
Task1_train_24704 | Gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; BLOOD GROUP--FROESE | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTT... | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTT... |
Task1_train_24705 | The variant affects gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; BLOOD GROUP--WRIGHT ANTIGEN | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTT... | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTT... |
Task1_train_24706 | The variant affects gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hereditary spherocytosis type 4 | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTT... | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTT... |
Task1_train_24707 | This alteration in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Malaria, susceptibility to | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTT... | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTT... |
Task1_train_24708 | The variant affects gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; BLOOD GROUP--DIEGO SYSTEM | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTT... | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTT... |
Task1_train_24709 | A sequence alteration has been identified in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Inborn genetic diseases | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTT... | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTT... |
Task1_train_24710 | This alteration occurs within gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | ATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTT... | ATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTT... |
Task1_train_24711 | The variant affects gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | CCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGG... | CCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGG... |
Task1_train_24712 | The following genetic variant occurs in GRN (granulin precursor) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Neuronal ceroid lipofuscinosis 11 | AAAAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTG... | AAAAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTG... |
Task1_train_24713 | Here is a variant affecting GRN (granulin precursor) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | AAAAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTG... | AAAAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTG... |
Task1_train_24714 | A genomic change on Chromosome 17 affects GRN (granulin precursor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Neuronal ceroid lipofuscinosis 11 | AAAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGC... | AAAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGC... |
Task1_train_24715 | A mutation in GRN (granulin precursor), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | AAAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGC... | AAAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGC... |
Task1_train_24716 | A genetic alteration is present in GRN (granulin precursor) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | AAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCG... | AAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCG... |
Task1_train_24717 | A mutation on Chromosome 17 affecting GRN (granulin precursor) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | AAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTG... | AAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTG... |
Task1_train_24718 | Here’s a variant in GRN (granulin precursor) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Neuronal ceroid lipofuscinosis 11 | AAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTG... | AAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTG... |
Task1_train_24719 | A mutation found in GRN (granulin precursor) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | AAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTG... | AAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTG... |
Task1_train_24720 | Located on Chromosome 17, this mutation impacts GRN (granulin precursor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Parkinsonian disorder | TGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTAC... | TGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTAC... |
Task1_train_24721 | This sequence change occurs on Chromosome 17, altering ITGA2B (integrin subunit alpha 2b). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Glanzmann thrombasthenia | ACCTGGGGGTACACGGGGGCCAAGGTCAGGGTATACAGATGATTTGCTGGCCCCAGAGCACATGTGAGGAAGTATGCTAGCTATGAGCACCTCCCTGGACCAGCGCAGAACATGAAGCCCACTGTACTCACAAATGGATGCCTTTTGACATTTAGAGATAATGCATGGAACGAATTGTTGGGTTTTTGTTTTTTCTCCCCTGAGTTTTTATTTTTTTCTTTTTTTTAGAGGGAGTCTCACTCTGTCACCCAGGCTGTAGTGTAGTGGCTCGATCTCGGCTCAGTGCAGCCTCCACCTCCCGGGTTCAAACAATTCTCATG... | ACCTGGGGGTACACGGGGGCCAAGGTCAGGGTATACAGATGATTTGCTGGCCCCAGAGCACATGTGAGGAAGTATGCTAGCTATGAGCACCTCCCTGGACCAGCGCAGAACATGAAGCCCACTGTACTCACAAATGGATGCCTTTTGACATTTAGAGATAATGCATGGAACGAATTGTTGGGTTTTTGTTTTTTCTCCCCTGAGTTTTTATTTTTTTCTTTTTTTTAGAGGGAGTCTCACTCTGTCACCCAGGCTGTAGTGTAGTGGCTCGATCTCGGCTCAGTGCAGCCTCCACCTCCCGGGTTCAAACAATTCTCATG... |
Task1_train_24722 | A mutation found in ITGA2B (integrin subunit alpha 2b) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Glanzmann thrombasthenia | TCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAGCACCCACCAGATTGGAATGGCCCTCTCCTCCAAGGCCCGGAGCAGCTGTGTCCACACCTGGGGGCAAACCCACGTGTCTCCTCAGTCACCTTGACACCTGCCTTTCACAAAGACTCAAACCTCAGGCTGGTGACCTCCAGCCATGCCACCCACCCGTACCACCCCTCAGACTTTTCTGGCT... | TCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAGCACCCACCAGATTGGAATGGCCCTCTCCTCCAAGGCCCGGAGCAGCTGTGTCCACACCTGGGGGCAAACCCACGTGTCTCCTCAGTCACCTTGACACCTGCCTTTCACAAAGACTCAAACCTCAGGCTGGTGACCTCCAGCCATGCCACCCACCCGTACCACCCCTCAGACTTTTCTGGCT... |
Task1_train_24723 | This alteration in ITGA2B (integrin subunit alpha 2b) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Glanzmann thrombasthenia | CCCGCCCCACCACGGCCCACCCCACCTGGTAGAGGCTGGGCAGCCACAGGAAGGCCAGCACCGTGACCATGGCCCGCTGCCCGCGCGCCATCTCCTGCAGGTCACACTGCACCACAGTACAGGGCGCCGAGTCGCAGCTCTGAGGGGAAGCATCGTCAGTCCCCAGCCCGTCCCGGCCCATCACCCCATCATCCCCCACCCCCTTACCCCCAGGACCCAACGCAGAAGGGGCCGGGGGTTCAGGAAGCGGTGGCCTTCCCATCAGGAAGGGCCTTGGATCCAAGCTTCGGATGCTGTCTTTCCACGGGCTTGCTCACATA... | CCCGCCCCACCACGGCCCACCCCACCTGGTAGAGGCTGGGCAGCCACAGGAAGGCCAGCACCGTGACCATGGCCCGCTGCCCGCGCGCCATCTCCTGCAGGTCACACTGCACCACAGTACAGGGCGCCGAGTCGCAGCTCTGAGGGGAAGCATCGTCAGTCCCCAGCCCGTCCCGGCCCATCACCCCATCATCCCCCACCCCCTTACCCCCAGGACCCAACGCAGAAGGGGCCGGGGGTTCAGGAAGCGGTGGCCTTCCCATCAGGAAGGGCCTTGGATCCAAGCTTCGGATGCTGTCTTTCCACGGGCTTGCTCACATA... |
Task1_train_24724 | A sequence alteration has been identified in ITGA2B (integrin subunit alpha 2b) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Glanzmann thrombasthenia | GGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAG... | GGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAG... |
Task1_train_24725 | Assess the clinical impact of this variant on gene ITGA2B (integrin subunit alpha 2b), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Glanzmann thrombasthenia | ATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTAC... | ATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTAC... |
Task1_train_24726 | Assess the clinical impact of this variant on gene ITGA2B (integrin subunit alpha 2b), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Glanzmann thrombasthenia | AAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCT... | AAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCT... |
Task1_train_24727 | This variant affects the gene ITGA2B (integrin subunit alpha 2b) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Glanzmann thrombasthenia | AATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTT... | AATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTT... |
Task1_train_24728 | This sequence variant lies in ITGA2B (integrin subunit alpha 2b) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Glanzmann thrombasthenia | GGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTG... | GGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTG... |
Task1_train_24729 | A sequence alteration has been identified in ITGA2B (integrin subunit alpha 2b) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Glanzmann thrombasthenia 1 | GAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACA... | GAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACA... |
Task1_train_24730 | Gene ITGA2B (integrin subunit alpha 2b), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Glanzmann thrombasthenia | ATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGC... | ATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGC... |
Task1_train_24731 | Gene ITGA2B (integrin subunit alpha 2b) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Glanzmann thrombasthenia | ACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCA... | ACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCA... |
Task1_train_24732 | The gene ITGA2B (integrin subunit alpha 2b), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Glanzmann thrombasthenia | GGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATT... | GGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATT... |
Task1_train_24733 | A variant affecting Chromosome 17, within the gene ITGA2B (integrin subunit alpha 2b), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Glanzmann thrombasthenia | AGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGA... | AGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGA... |
Task1_train_24734 | A variant has been detected on Chromosome 17 in ITGA2B (integrin subunit alpha 2b). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Glanzmann thrombasthenia | AGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAG... | AGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAG... |
Task1_train_24735 | A mutation on Chromosome 17 affecting ITGA2B (integrin subunit alpha 2b) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Glanzmann thrombasthenia | GAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGC... | GAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGC... |
Task1_train_24736 | This variant lies on Chromosome 17 and affects the gene ITGA2B (integrin subunit alpha 2b). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Glanzmann thrombasthenia | ATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAG... | ATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAG... |
Task1_train_24737 | Gene ITGA2B (integrin subunit alpha 2b), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Glanzmann thrombasthenia | GCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAA... | GCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAA... |
Task1_train_24738 | The gene ITGA2B, LOC130060983 (integrin subunit alpha 2b| ATAC-STARR-seq lymphoblastoid active region 12261), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Glanzmann thrombasthenia | TCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGAT... | TCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGAT... |
Task1_train_24739 | This variant affects the gene ITGA2B (integrin subunit alpha 2b) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Glanzmann thrombasthenia | CTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGT... | CTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGT... |
Task1_train_24740 | This alteration in ITGA2B (integrin subunit alpha 2b) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Glanzmann thrombasthenia | GGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGT... | GGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGT... |
Task1_train_24741 | The gene ITGA2B (integrin subunit alpha 2b), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Glanzmann thrombasthenia | CCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGA... | CCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGA... |
Task1_train_24742 | A variant found in Chromosome 17 affects EFTUD2 (elongation factor Tu GTP binding domain containing 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | ATTGCTTGAACCTGGGAGGCGGAGGCTACAGTGGGCTGAGATCCGCCACTGCACTCCAGCCCGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGACTGTGAATTAAGTTCTCCTGTTCTGGGCTCCACATCACATGCTTGGTGAAGCCCCTATACTGAGCCATCTTCCCTGTTTAGGCTCCTGTCCCAGGCCTGTGGGGACAGTGTCTCATGACAGTTTGCCCTAGGGGTGAGAAAAATCATGCAACAGAACAGATGTTGAATTTCTCTTCCTCTTGAGATTAAAAAGCAGACAGCCACTT... | ATTGCTTGAACCTGGGAGGCGGAGGCTACAGTGGGCTGAGATCCGCCACTGCACTCCAGCCCGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGACTGTGAATTAAGTTCTCCTGTTCTGGGCTCCACATCACATGCTTGGTGAAGCCCCTATACTGAGCCATCTTCCCTGTTTAGGCTCCTGTCCCAGGCCTGTGGGGACAGTGTCTCATGACAGTTTGCCCTAGGGGTGAGAAAAATCATGCAACAGAACAGATGTTGAATTTCTCTTCCTCTTGAGATTAAAAAGCAGACAGCCACTT... |
Task1_train_24743 | This gene mutation involves EFTUD2 (elongation factor Tu GTP binding domain containing 2) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Mandibulofacial dysostosis-microcephaly syndrome | GGCGTTTCAGCAAAGCACTTGAGGGAGGATGTTTCCACCACCGTCTCACAAAACGTGACAACTGGGTCAGCCACCTGGGAAACAGAAAATAAATTACTGAAGCGAGGTCTAATTTTGTTGGAAGGGCAACCATTTACCTAAGGGAATTCAGAAGCTCCCTTGACACTACCTCTGTGAAAACCCCAACTGCCTTAATCAGCACAAGTGATAAGTACAACAGCAGGTTAAAAGAGCTGTCCAAATCATCACCAAAAAGCCCAAGAAAACTTACTGTAGTAAAGAAATTAGATTCCTGAGCCAAGAGTAAGTGGGGTATCAAA... | GGCGTTTCAGCAAAGCACTTGAGGGAGGATGTTTCCACCACCGTCTCACAAAACGTGACAACTGGGTCAGCCACCTGGGAAACAGAAAATAAATTACTGAAGCGAGGTCTAATTTTGTTGGAAGGGCAACCATTTACCTAAGGGAATTCAGAAGCTCCCTTGACACTACCTCTGTGAAAACCCCAACTGCCTTAATCAGCACAAGTGATAAGTACAACAGCAGGTTAAAAGAGCTGTCCAAATCATCACCAAAAAGCCCAAGAAAACTTACTGTAGTAAAGAAATTAGATTCCTGAGCCAAGAGTAAGTGGGGTATCAAA... |
Task1_train_24744 | A variant affecting Chromosome 17, within the gene EFTUD2 (elongation factor Tu GTP binding domain containing 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | TTTAGGGAGTACAAATTCATATAAACGTCATGCTATATTCCCTTTTTTAGAGACAGGGTCTCACTCTGTCACCCAGCCTGGAGTGCAGTGGTGTGATCACGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCCCCCAAGTAGTTGGGACCACAGGCACACACCACTACAACAGCTAATTCTATTTTGTGCGGAGATAAAGGGTTTAGCCATGTTGTCCAAGCTGGTCTTGAACTCCTGATCTCAAGCGATCTGCCCACTGGGACCTCCCAAAGTGCTGGAATTACAGGCGTGAGCAACCA... | TTTAGGGAGTACAAATTCATATAAACGTCATGCTATATTCCCTTTTTTAGAGACAGGGTCTCACTCTGTCACCCAGCCTGGAGTGCAGTGGTGTGATCACGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCCCCCAAGTAGTTGGGACCACAGGCACACACCACTACAACAGCTAATTCTATTTTGTGCGGAGATAAAGGGTTTAGCCATGTTGTCCAAGCTGGTCTTGAACTCCTGATCTCAAGCGATCTGCCCACTGGGACCTCCCAAAGTGCTGGAATTACAGGCGTGAGCAACCA... |
Task1_train_24745 | Assess the clinical impact of this variant on gene EFTUD2 (elongation factor Tu GTP binding domain containing 2), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Mandibulofacial dysostosis-microcephaly syndrome | TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTTTTTTTTTTTTTTTTTTTTTTAAGAGACAGGATCTCACTCTGTCACCCACATTGGAGTACAACAGCACAATCATAGCTCACTATAACCCTGAACTCCTTGGCTCAAGTGATCCTCTTGCCTCTGCCTCCCGAGTAGCTAAGACTACAAACACATGCCAGCACGCCAAGCTAATTTCAAAATTATTTTTTGTAGACACAGAGTCTAGCTATGTTGCCCAGGCTGGCCTTGAACTCCTAGCCCCAAGGGATCCTCC... | TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTTTTTTTTTTTTTTTTTTTTTTAAGAGACAGGATCTCACTCTGTCACCCACATTGGAGTACAACAGCACAATCATAGCTCACTATAACCCTGAACTCCTTGGCTCAAGTGATCCTCTTGCCTCTGCCTCCCGAGTAGCTAAGACTACAAACACATGCCAGCACGCCAAGCTAATTTCAAAATTATTTTTTGTAGACACAGAGTCTAGCTATGTTGCCCAGGCTGGCCTTGAACTCCTAGCCCCAAGGGATCCTCC... |
Task1_train_24746 | Consider this mutation in EFTUD2 (elongation factor Tu GTP binding domain containing 2) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Mandibulofacial dysostosis-microcephaly syndrome | CTTGAGGTCAGGAGTTCAAGACCAGCCTGACCGACATGGTGAAACCCCATTTCTACAAAAAATTCAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTGCCTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGGAAGAGCAAGACTCCATCTCAAAAAAACAAAACAACAACAACAACAACAACAACAAACAACAATGGCTGGAAGCGGTGGCTCACGCCTGTAATCTCCACACTTTGGGAGGCCTAGGTGGGC... | CTTGAGGTCAGGAGTTCAAGACCAGCCTGACCGACATGGTGAAACCCCATTTCTACAAAAAATTCAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTGCCTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGGAAGAGCAAGACTCCATCTCAAAAAAACAAAACAACAACAACAACAACAACAACAAACAACAATGGCTGGAAGCGGTGGCTCACGCCTGTAATCTCCACACTTTGGGAGGCCTAGGTGGGC... |
Task1_train_24747 | This mutation occurs in EFTUD2 (elongation factor Tu GTP binding domain containing 2) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Mandibulofacial dysostosis-microcephaly syndrome | AGCCCATGTTCTTTTCACTAGGACATCATGAGTTACAGAGGTTAACTGGGGAAGAAGAGTGAATGGAATGAGAACAAAGGAAACCTTTCTATCAACATGGTTTGAATGAGAATGTATTCATGAATTACCTATATAATTAAAGAAAAACACACTGTAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGAGCAGTGGCTCGATCTCAGCTCACTGCAACGTCTACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTACCA... | AGCCCATGTTCTTTTCACTAGGACATCATGAGTTACAGAGGTTAACTGGGGAAGAAGAGTGAATGGAATGAGAACAAAGGAAACCTTTCTATCAACATGGTTTGAATGAGAATGTATTCATGAATTACCTATATAATTAAAGAAAAACACACTGTAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGAGCAGTGGCTCGATCTCAGCTCACTGCAACGTCTACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTACCA... |
Task1_train_24748 | Gene DNAAF19 (dynein axonemal assembly factor 19) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Primary ciliary dyskinesia 17 | ATATGCAGAAACTACAGAAGTACAGTGATAGAACTAAAGGCATTGCCCAGGTACCTAGGGACCTCTGTTCCAGCCCTGGGCTGGACAGAGGGATTTGGGGATGGGGTCATTGAGCTCCTTCCTTTGCCCCTTCTACTTGATTTCCTGCTCAGTCATTGCATCTGGTTTGGGTGAAAGTCTCCTTCCTCATTAAAGACATTCAATGAAGAATGAAACTTTATCCCCGAGCTCAAGGGTAACTAACAAGAGTTCTGCCTTTGTGTGAGGTCCCCTGTCGAAACGACTTGCTGTAGAACAATCCTATGGGGGAAGAGTGAAGA... | ATATGCAGAAACTACAGAAGTACAGTGATAGAACTAAAGGCATTGCCCAGGTACCTAGGGACCTCTGTTCCAGCCCTGGGCTGGACAGAGGGATTTGGGGATGGGGTCATTGAGCTCCTTCCTTTGCCCCTTCTACTTGATTTCCTGCTCAGTCATTGCATCTGGTTTGGGTGAAAGTCTCCTTCCTCATTAAAGACATTCAATGAAGAATGAAACTTTATCCCCGAGCTCAAGGGTAACTAACAAGAGTTCTGCCTTTGTGTGAGGTCCCCTGTCGAAACGACTTGCTGTAGAACAATCCTATGGGGGAAGAGTGAAGA... |
Task1_train_24749 | This gene mutation involves DNAAF19 (dynein axonemal assembly factor 19) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Primary ciliary dyskinesia | ATATGCAGAAACTACAGAAGTACAGTGATAGAACTAAAGGCATTGCCCAGGTACCTAGGGACCTCTGTTCCAGCCCTGGGCTGGACAGAGGGATTTGGGGATGGGGTCATTGAGCTCCTTCCTTTGCCCCTTCTACTTGATTTCCTGCTCAGTCATTGCATCTGGTTTGGGTGAAAGTCTCCTTCCTCATTAAAGACATTCAATGAAGAATGAAACTTTATCCCCGAGCTCAAGGGTAACTAACAAGAGTTCTGCCTTTGTGTGAGGTCCCCTGTCGAAACGACTTGCTGTAGAACAATCCTATGGGGGAAGAGTGAAGA... | ATATGCAGAAACTACAGAAGTACAGTGATAGAACTAAAGGCATTGCCCAGGTACCTAGGGACCTCTGTTCCAGCCCTGGGCTGGACAGAGGGATTTGGGGATGGGGTCATTGAGCTCCTTCCTTTGCCCCTTCTACTTGATTTCCTGCTCAGTCATTGCATCTGGTTTGGGTGAAAGTCTCCTTCCTCATTAAAGACATTCAATGAAGAATGAAACTTTATCCCCGAGCTCAAGGGTAACTAACAAGAGTTCTGCCTTTGTGTGAGGTCCCCTGTCGAAACGACTTGCTGTAGAACAATCCTATGGGGGAAGAGTGAAGA... |
Task1_train_24750 | The gene GFAP (glial fibrillary acidic protein) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Alexander disease | GAGTAAGAAGGGACCGCAAGAGGCCCTTGGCTTAGGGAAAAGCAGCCGGTCACTATGGGGTGGAGAGGGTCAGACGTGTGGCAGTGGCTTACTGGGGTTAAGAAGCAGCAGTCCCAGGGGCTCAGAGGCTGGGGCGGCCTGGTATGACACAGCAAGGAAGAGGCCTTTAGAAATGGGACAAAGTCATGCCCTGCCCCCATGGATACATCCCCTTTCTCTCCTGTTTCAGCATCTTCAAGAGGATGAGTCACTTCCTTAATTCCCACAATCCAGAGGCCAAGTGCAACTGGTCACCCACAACCCCTACTTGTATGCCTAGC... | GAGTAAGAAGGGACCGCAAGAGGCCCTTGGCTTAGGGAAAAGCAGCCGGTCACTATGGGGTGGAGAGGGTCAGACGTGTGGCAGTGGCTTACTGGGGTTAAGAAGCAGCAGTCCCAGGGGCTCAGAGGCTGGGGCGGCCTGGTATGACACAGCAAGGAAGAGGCCTTTAGAAATGGGACAAAGTCATGCCCTGCCCCCATGGATACATCCCCTTTCTCTCCTGTTTCAGCATCTTCAAGAGGATGAGTCACTTCCTTAATTCCCACAATCCAGAGGCCAAGTGCAACTGGTCACCCACAACCCCTACTTGTATGCCTAGC... |
Task1_train_24751 | This variant impacts the gene GFAP (glial fibrillary acidic protein) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Inborn genetic diseases | GAGTAAGAAGGGACCGCAAGAGGCCCTTGGCTTAGGGAAAAGCAGCCGGTCACTATGGGGTGGAGAGGGTCAGACGTGTGGCAGTGGCTTACTGGGGTTAAGAAGCAGCAGTCCCAGGGGCTCAGAGGCTGGGGCGGCCTGGTATGACACAGCAAGGAAGAGGCCTTTAGAAATGGGACAAAGTCATGCCCTGCCCCCATGGATACATCCCCTTTCTCTCCTGTTTCAGCATCTTCAAGAGGATGAGTCACTTCCTTAATTCCCACAATCCAGAGGCCAAGTGCAACTGGTCACCCACAACCCCTACTTGTATGCCTAGC... | GAGTAAGAAGGGACCGCAAGAGGCCCTTGGCTTAGGGAAAAGCAGCCGGTCACTATGGGGTGGAGAGGGTCAGACGTGTGGCAGTGGCTTACTGGGGTTAAGAAGCAGCAGTCCCAGGGGCTCAGAGGCTGGGGCGGCCTGGTATGACACAGCAAGGAAGAGGCCTTTAGAAATGGGACAAAGTCATGCCCTGCCCCCATGGATACATCCCCTTTCTCTCCTGTTTCAGCATCTTCAAGAGGATGAGTCACTTCCTTAATTCCCACAATCCAGAGGCCAAGTGCAACTGGTCACCCACAACCCCTACTTGTATGCCTAGC... |
Task1_train_24752 | A variant found in Chromosome 17 affects GFAP (glial fibrillary acidic protein). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Alexander disease | TATGGGGTGGAGAGGGTCAGACGTGTGGCAGTGGCTTACTGGGGTTAAGAAGCAGCAGTCCCAGGGGCTCAGAGGCTGGGGCGGCCTGGTATGACACAGCAAGGAAGAGGCCTTTAGAAATGGGACAAAGTCATGCCCTGCCCCCATGGATACATCCCCTTTCTCTCCTGTTTCAGCATCTTCAAGAGGATGAGTCACTTCCTTAATTCCCACAATCCAGAGGCCAAGTGCAACTGGTCACCCACAACCCCTACTTGTATGCCTAGCGCCATCCCAATTGCCTCCTCCTCCATCTCTACCAGCGTCCCCTCCAGTCTGCA... | TATGGGGTGGAGAGGGTCAGACGTGTGGCAGTGGCTTACTGGGGTTAAGAAGCAGCAGTCCCAGGGGCTCAGAGGCTGGGGCGGCCTGGTATGACACAGCAAGGAAGAGGCCTTTAGAAATGGGACAAAGTCATGCCCTGCCCCCATGGATACATCCCCTTTCTCTCCTGTTTCAGCATCTTCAAGAGGATGAGTCACTTCCTTAATTCCCACAATCCAGAGGCCAAGTGCAACTGGTCACCCACAACCCCTACTTGTATGCCTAGCGCCATCCCAATTGCCTCCTCCTCCATCTCTACCAGCGTCCCCTCCAGTCTGCA... |
Task1_train_24753 | A mutation on Chromosome 17 affecting GFAP (glial fibrillary acidic protein) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | CCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGACTAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGACAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGAGAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGCGATCGTGCCACTGCACTCCAGCCTGAGCAACAGAGTAAGACTCCGTCGAAAGCAGGCAAGCAAGCAAGCAAGCAAGCAGGAAAGAGAAA... | CCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGACTAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGACAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGAGAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGCGATCGTGCCACTGCACTCCAGCCTGAGCAACAGAGTAAGACTCCGTCGAAAGCAGGCAAGCAAGCAAGCAAGCAAGCAGGAAAGAGAAA... |
Task1_train_24754 | This variant lies on Chromosome 17 and affects the gene GFAP (glial fibrillary acidic protein). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | CCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGACTAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGACAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGAGAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGCGATCGTGCCACTGCACTCCAGCCTGAGCAACAGAGTAAGACTCCGTCGAAAGCAGGCAAGCAAGCAAGCAAGCAAGCAGGAAAGAGAAA... | CCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGACTAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGACAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGAGAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGCGATCGTGCCACTGCACTCCAGCCTGAGCAACAGAGTAAGACTCCGTCGAAAGCAGGCAAGCAAGCAAGCAAGCAAGCAGGAAAGAGAAA... |
Task1_train_24755 | This alteration in GFAP, LOC130060994 (glial fibrillary acidic protein| ATAC-STARR-seq lymphoblastoid active region 12266) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | AGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGA... | AGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGA... |
Task1_train_24756 | This sequence variant lies in GFAP, LOC130060994 (glial fibrillary acidic protein| ATAC-STARR-seq lymphoblastoid active region 12266) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | AGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGA... | AGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGA... |
Task1_train_24757 | A genetic alteration is present in LOC130060994, GFAP (ATAC-STARR-seq lymphoblastoid active region 12266| glial fibrillary acidic protein) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | CCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATAT... | CCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATAT... |
Task1_train_24758 | Here is a mutation in GFAP, LOC130060994 (glial fibrillary acidic protein| ATAC-STARR-seq lymphoblastoid active region 12266) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | AGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTA... | AGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTA... |
Task1_train_24759 | Chromosome 17 houses a mutation in gene GFAP, LOC130060994 (glial fibrillary acidic protein| ATAC-STARR-seq lymphoblastoid active region 12266). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Alexander disease | ACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAG... | ACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAG... |
Task1_train_24760 | Here is a genetic alteration in GFAP, LOC130060994 (glial fibrillary acidic protein| ATAC-STARR-seq lymphoblastoid active region 12266) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Alexander disease | CCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGA... | CCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGA... |
Task1_train_24761 | An alteration has been detected in LOC130060994, GFAP (ATAC-STARR-seq lymphoblastoid active region 12266| glial fibrillary acidic protein) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Alexander disease | CTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAA... | CTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAA... |
Task1_train_24762 | This alteration occurs within gene GFAP, LOC130060994 (glial fibrillary acidic protein| ATAC-STARR-seq lymphoblastoid active region 12266) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Alexander disease | CAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAA... | CAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAA... |
Task1_train_24763 | A mutation in GFAP (glial fibrillary acidic protein), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Alexander disease | AATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCAT... | AATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCAT... |
Task1_train_24764 | Here is a variant affecting GFAP (glial fibrillary acidic protein) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Alexander disease | GGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAG... | GGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAG... |
Task1_train_24765 | The variant affects gene GFAP (glial fibrillary acidic protein), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Alexander disease | TATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCA... | TATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCA... |
Task1_train_24766 | A variant has been detected on Chromosome 17 in GFAP (glial fibrillary acidic protein). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Alexander disease | TGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAA... | TGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAA... |
Task1_train_24767 | A genomic change on Chromosome 17 affects GFAP (glial fibrillary acidic protein). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Alexander disease | CCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAG... | CCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAG... |
Task1_train_24768 | This mutation occurs in GFAP (glial fibrillary acidic protein) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Alexander disease | GGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGC... | GGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGC... |
Task1_train_24769 | This mutation is located in gene GFAP (glial fibrillary acidic protein) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | CCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTT... | CCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTT... |
Task1_train_24770 | This variant affects gene GFAP (glial fibrillary acidic protein) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Alexander disease | CCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCT... | CCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCT... |
Task1_train_24771 | A genetic alteration is present in GFAP (glial fibrillary acidic protein) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Alexander disease | CCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCT... | CCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCT... |
Task1_train_24772 | Chromosome 17 houses a mutation in gene GFAP (glial fibrillary acidic protein). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Spastic paraplegia, intellectual disability, nystagmus, and obesity | CCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCT... | CCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCT... |
Task1_train_24773 | This variant impacts the gene GFAP (glial fibrillary acidic protein) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Alexander disease | CAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTC... | CAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTC... |
Task1_train_24774 | This sequence variant lies in GFAP (glial fibrillary acidic protein) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Alexander disease | TCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCC... | TCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCC... |
Task1_train_24775 | With a mutation on Chromosome 17 in gene GFAP (glial fibrillary acidic protein), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Alexander disease | TCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCC... | TCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCC... |
Task1_train_24776 | The gene GFAP (glial fibrillary acidic protein) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Alexander disease | CAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATT... | CAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATT... |
Task1_train_24777 | Gene GFAP (glial fibrillary acidic protein) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Alexander disease | CAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATT... | CAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATT... |
Task1_train_24778 | This is a variant in GFAP (glial fibrillary acidic protein), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Alexander disease | CTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTG... | CTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTG... |
Task1_train_24779 | Located on Chromosome 17, this mutation impacts GFAP (glial fibrillary acidic protein). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Alexander disease | CCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTC... | CCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTC... |
Task1_train_24780 | This sequence change occurs on Chromosome 17, altering GFAP (glial fibrillary acidic protein). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Alexander disease | CATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCG... | CATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCG... |
Task1_train_24781 | A genomic change on Chromosome 17 affects GFAP (glial fibrillary acidic protein). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | CATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCG... | CATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCG... |
Task1_train_24782 | This alteration occurs within gene GFAP (glial fibrillary acidic protein) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | ATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGG... | ATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGG... |
Task1_train_24783 | This genomic variant is located on Chromosome 17, within the GFAP (glial fibrillary acidic protein) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | TCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCC... | TCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCC... |
Task1_train_24784 | A variant has been detected on Chromosome 17 in GFAP (glial fibrillary acidic protein). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | TCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAG... | TCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAG... |
Task1_train_24785 | A mutation in GFAP (glial fibrillary acidic protein), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Alexander disease | CTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGG... | CTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGG... |
Task1_train_24786 | A mutation on Chromosome 17 affecting GFAP (glial fibrillary acidic protein) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | GTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGT... | GTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGT... |
Task1_train_24787 | A variant on Chromosome 17 in gene GFAP (glial fibrillary acidic protein) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Alexander disease | CAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGC... | CAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGC... |
Task1_train_24788 | A change on Chromosome 17 affects gene GFAP (glial fibrillary acidic protein). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Alexander disease | AAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCT... | AAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCT... |
Task1_train_24789 | A sequence alteration has been identified in GFAP (glial fibrillary acidic protein) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Alexander disease | TGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCT... | TGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCT... |
Task1_train_24790 | The gene PLEKHM1 (pleckstrin homology and RUN domain containing M1) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Osteopetrosis, autosomal dominant 3 | CCCAGATGCCAGTGGTTGGTGTCTGCCACTGAGCCATGCCTGCTGGGTAGAAAGGAAACCCAAACTCCCCGGTGGCACAGTCCCACCCGCTGGTGGGTGGCAGCCATGGTGAGAGTTGCCCCCGCAGCATTCACACCCACAGGCGAGGAACCCTTTCTTGCAAGCCCTGGAGTCCTGGCCCCCTCAGAGCCTGGCCTTCACAGGCTGAAGAGCAAAGTGTGAGCGCTGGGGCAGGCGGGGGAGAGGTCAAGCGAGGCTTGCAGGTGTTTTCTGCAGGAAGCTCTGTTCTGCCTAGCTTCTCCCATCCTCGCGGGGCCAAC... | CCCAGATGCCAGTGGTTGGTGTCTGCCACTGAGCCATGCCTGCTGGGTAGAAAGGAAACCCAAACTCCCCGGTGGCACAGTCCCACCCGCTGGTGGGTGGCAGCCATGGTGAGAGTTGCCCCCGCAGCATTCACACCCACAGGCGAGGAACCCTTTCTTGCAAGCCCTGGAGTCCTGGCCCCCTCAGAGCCTGGCCTTCACAGGCTGAAGAGCAAAGTGTGAGCGCTGGGGCAGGCGGGGGAGAGGTCAAGCGAGGCTTGCAGGTGTTTTCTGCAGGAAGCTCTGTTCTGCCTAGCTTCTCCCATCCTCGCGGGGCCAAC... |
Task1_train_24791 | A variant was discovered in gene MAPT (microtubule associated protein tau), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Supranuclear palsy, progressive, 1 | GAGAACAGCAGAGCCGTTTTAGGATGGGACAGGGCAGCCAGGAGGATTGGGCTCACTCCCTACTGAGTGCCTCACTCCCGTACAGCCCCCATAGAGGAAGAGGGGTTCAAATTTATTCCTCAGCCAGATGGCATGTGCCGCCTGTCCTGGAATTTCACATCACTTATGATGGACCAAAATTCCAAAAGCTGAATCCATGATTGTCAAAGTCTGGTATGGCAGGATGTCAACAGTAATCGTTTCTGGGCAGAGGGATGATTTTCTCTTCCCATCTTGCTTTGTATAAATACATTTTCTATAATAAGGTTGTATTACTTTTC... | GAGAACAGCAGAGCCGTTTTAGGATGGGACAGGGCAGCCAGGAGGATTGGGCTCACTCCCTACTGAGTGCCTCACTCCCGTACAGCCCCCATAGAGGAAGAGGGGTTCAAATTTATTCCTCAGCCAGATGGCATGTGCCGCCTGTCCTGGAATTTCACATCACTTATGATGGACCAAAATTCCAAAAGCTGAATCCATGATTGTCAAAGTCTGGTATGGCAGGATGTCAACAGTAATCGTTTCTGGGCAGAGGGATGATTTTCTCTTCCCATCTTGCTTTGTATAAATACATTTTCTATAATAAGGTTGTATTACTTTTC... |
Task1_train_24792 | A genetic alteration is present in MAPT (microtubule associated protein tau) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Pick disease | TATAATCCCGGCACTTTGGGAGGTTGAGGTGGGAGAATCGCTTGAGGCCAGAAGTTCAAGACCAGCCTGAGCAACATAGTCAGACCCCGTCTCTATAAAAAACATTATTTTTAAAAAAGACATGGAAGTCAAATTCTAAAAACTGGTGCTGGCTGGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCTCTACTAAAGAAATCTTTACTGAAAATACAAAAATCCAGTCTCTACTAAAATAAGTCTCTA... | TATAATCCCGGCACTTTGGGAGGTTGAGGTGGGAGAATCGCTTGAGGCCAGAAGTTCAAGACCAGCCTGAGCAACATAGTCAGACCCCGTCTCTATAAAAAACATTATTTTTAAAAAAGACATGGAAGTCAAATTCTAAAAACTGGTGCTGGCTGGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCTCTACTAAAGAAATCTTTACTGAAAATACAAAAATCCAGTCTCTACTAAAATAAGTCTCTA... |
Task1_train_24793 | Located on Chromosome 17, this mutation impacts MAPT (microtubule associated protein tau). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Frontotemporal dementia | AGGTGGGAGAATCGCTTGAGGCCAGAAGTTCAAGACCAGCCTGAGCAACATAGTCAGACCCCGTCTCTATAAAAAACATTATTTTTAAAAAAGACATGGAAGTCAAATTCTAAAAACTGGTGCTGGCTGGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCTCTACTAAAGAAATCTTTACTGAAAATACAAAAATCCAGTCTCTACTAAAATAAGTCTCTACTAAAAATACAAAAATTAGCCAGGCG... | AGGTGGGAGAATCGCTTGAGGCCAGAAGTTCAAGACCAGCCTGAGCAACATAGTCAGACCCCGTCTCTATAAAAAACATTATTTTTAAAAAAGACATGGAAGTCAAATTCTAAAAACTGGTGCTGGCTGGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCTCTACTAAAGAAATCTTTACTGAAAATACAAAAATCCAGTCTCTACTAAAATAAGTCTCTACTAAAAATACAAAAATTAGCCAGGCG... |
Task1_train_24794 | Here is a mutation in MAPT (microtubule associated protein tau) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Frontotemporal dementia | GGCCAGAAGTTCAAGACCAGCCTGAGCAACATAGTCAGACCCCGTCTCTATAAAAAACATTATTTTTAAAAAAGACATGGAAGTCAAATTCTAAAAACTGGTGCTGGCTGGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCTCTACTAAAGAAATCTTTACTGAAAATACAAAAATCCAGTCTCTACTAAAATAAGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGCTGCACACCTGTAA... | GGCCAGAAGTTCAAGACCAGCCTGAGCAACATAGTCAGACCCCGTCTCTATAAAAAACATTATTTTTAAAAAAGACATGGAAGTCAAATTCTAAAAACTGGTGCTGGCTGGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCTCTACTAAAGAAATCTTTACTGAAAATACAAAAATCCAGTCTCTACTAAAATAAGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGCTGCACACCTGTAA... |
Task1_train_24795 | This variant lies on Chromosome 17 and affects the gene MAPT (microtubule associated protein tau). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Frontotemporal dementia | GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAAT... | GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAAT... |
Task1_train_24796 | A variant has been detected on Chromosome 17 in MAPT (microtubule associated protein tau). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Progressive supranuclear ophthalmoplegia | GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAAT... | GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAAT... |
Task1_train_24797 | A mutation in MAPT (microtubule associated protein tau), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Pick disease | GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAAT... | GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAAT... |
Task1_train_24798 | Consider this mutation in MAPT (microtubule associated protein tau) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Frontotemporal dementia | GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAAT... | GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAAT... |
Task1_train_24799 | This variant affects gene MAPT (microtubule associated protein tau) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Parkinson disease, late-onset | GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAAT... | GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAAT... |
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