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_800 | A genomic change on Chromosome 1 affects MPL (MPL proto-oncogene, thrombopoietin receptor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Primary myelofibrosis | TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGG... | TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGG... |
Task1_train_801 | This genomic variant is located on Chromosome 1, within the MPL (MPL proto-oncogene, thrombopoietin receptor) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Thrombocythemia 2 | TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGG... | TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGG... |
Task1_train_802 | Gene MPL (MPL proto-oncogene, thrombopoietin receptor), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Congenital amegakaryocytic thrombocytopenia | TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGG... | TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGG... |
Task1_train_803 | This gene mutation involves MPL (MPL proto-oncogene, thrombopoietin receptor) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Congenital amegakaryocytic thrombocytopenia 1 | TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGG... | TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGG... |
Task1_train_804 | A mutation found in MPL (MPL proto-oncogene, thrombopoietin receptor) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Thrombocytopenia | TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGG... | TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGG... |
Task1_train_805 | A mutation in MPL (MPL proto-oncogene, thrombopoietin receptor), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Essential thrombocythemia | TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGG... | TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGG... |
Task1_train_806 | This mutation is located in gene MPL (MPL proto-oncogene, thrombopoietin receptor) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Congenital amegakaryocytic thrombocytopenia | TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGG... | TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGG... |
Task1_train_807 | Assess the clinical impact of this variant on gene MPL (MPL proto-oncogene, thrombopoietin receptor), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Congenital amegakaryocytic thrombocytopenia | CGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACGCCATCTCTACTAAAAATACAGAAATTAGTCAGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGGACCCAAGAGGCAGAGGCTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTGTCTCAAAACATTTTTAAAAATAAATAAAGTGGAAAGGGTTCCAGCATTGTTGG... | CGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACGCCATCTCTACTAAAAATACAGAAATTAGTCAGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGGACCCAAGAGGCAGAGGCTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTGTCTCAAAACATTTTTAAAAATAAATAAAGTGGAAAGGGTTCCAGCATTGTTGG... |
Task1_train_808 | Gene MPL (MPL proto-oncogene, thrombopoietin receptor) 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 | TAGGCTCTTTTCTCCTCTGATAAAATAAATATGTTCTCCCCAGGTGAGTGCTTTAACTCCATGGTTTCAATGTCCATACATTAACAATCGCAATTTTACCATTCTAACTCCCATATGGAAAGGAATTTACAAACCACAGGCAAATTACCAAAATGTTTGAAGTCTGTTTCCTCATTGGTGAAATGAGGATGAAGCTATCTACCTTATGGAGTTATAGTAAAGATTAAATACTATATCTAAATACCTAGCATACTGCCTGGCATAAGGAAGGTGCTCAATATACATTACTTAAATATTAGTTTGTCTACTTTTATTCTCAT... | TAGGCTCTTTTCTCCTCTGATAAAATAAATATGTTCTCCCCAGGTGAGTGCTTTAACTCCATGGTTTCAATGTCCATACATTAACAATCGCAATTTTACCATTCTAACTCCCATATGGAAAGGAATTTACAAACCACAGGCAAATTACCAAAATGTTTGAAGTCTGTTTCCTCATTGGTGAAATGAGGATGAAGCTATCTACCTTATGGAGTTATAGTAAAGATTAAATACTATATCTAAATACCTAGCATACTGCCTGGCATAAGGAAGGTGCTCAATATACATTACTTAAATATTAGTTTGTCTACTTTTATTCTCAT... |
Task1_train_809 | The gene MPL (MPL proto-oncogene, thrombopoietin receptor), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Thrombocythemia 2 | AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAA... | AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAA... |
Task1_train_810 | Mutation context: Chromosome 1, Gene MPL (MPL proto-oncogene, thrombopoietin receptor). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Congenital amegakaryocytic thrombocytopenia 1 | AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAA... | AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAA... |
Task1_train_811 | Gene MPL (MPL proto-oncogene, thrombopoietin receptor) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Primary myelofibrosis | AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAA... | AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAA... |
Task1_train_812 | Assess the clinical impact of this variant on gene MPL (MPL proto-oncogene, thrombopoietin receptor), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Congenital amegakaryocytic thrombocytopenia | AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAA... | AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAA... |
Task1_train_813 | A variant was discovered on Chromosome 1, affecting MPL (MPL proto-oncogene, thrombopoietin receptor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Essential thrombocythemia | AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAA... | AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAA... |
Task1_train_814 | A change on Chromosome 1 affects gene CDC20 (cell division cycle 20). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Oocyte maturation defect 14 | GTGCCTCCTGTAGGGCAGTCTAAGCTTATCTTCCAGATAGGCAGGTTTGAATACCGATCCTTTTTCTTGACCTTAAGGAATTCATTCACCCTTTTCAACCTCATTTTCCCTGTTTGTAAAACAACAGCAAACGAGACAAACACACGTTACTTCCTTTCTAGCAGGGTTCCTACCCGGCGCCAAGCAAAAGTGGAATGTACCCTAAGTAGCTCTGGCCTTCTTCCTGCTCCCAAGCTTCCCAATTCCGTCCCCTGCCCCGCTGCCGCCCGCGGCTCTCCTTCCCCTTCTAGGAACGGCTCAAGCGCCTTGGGCACTCCATC... | GTGCCTCCTGTAGGGCAGTCTAAGCTTATCTTCCAGATAGGCAGGTTTGAATACCGATCCTTTTTCTTGACCTTAAGGAATTCATTCACCCTTTTCAACCTCATTTTCCCTGTTTGTAAAACAACAGCAAACGAGACAAACACACGTTACTTCCTTTCTAGCAGGGTTCCTACCCGGCGCCAAGCAAAAGTGGAATGTACCCTAAGTAGCTCTGGCCTTCTTCCTGCTCCCAAGCTTCCCAATTCCGTCCCCTGCCCCGCTGCCGCCCGCGGCTCTCCTTCCCCTTCTAGGAACGGCTCAAGCGCCTTGGGCACTCCATC... |
Task1_train_815 | Gene CDC20 (cell division cycle 20) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Oocyte maturation defect 14 | ACCGATCCTTTTTCTTGACCTTAAGGAATTCATTCACCCTTTTCAACCTCATTTTCCCTGTTTGTAAAACAACAGCAAACGAGACAAACACACGTTACTTCCTTTCTAGCAGGGTTCCTACCCGGCGCCAAGCAAAAGTGGAATGTACCCTAAGTAGCTCTGGCCTTCTTCCTGCTCCCAAGCTTCCCAATTCCGTCCCCTGCCCCGCTGCCGCCCGCGGCTCTCCTTCCCCTTCTAGGAACGGCTCAAGCGCCTTGGGCACTCCATCGGGTTCTGCACCGAGTTCTGCATCATAAATACGACTCTCGTGTAGGATTTAA... | ACCGATCCTTTTTCTTGACCTTAAGGAATTCATTCACCCTTTTCAACCTCATTTTCCCTGTTTGTAAAACAACAGCAAACGAGACAAACACACGTTACTTCCTTTCTAGCAGGGTTCCTACCCGGCGCCAAGCAAAAGTGGAATGTACCCTAAGTAGCTCTGGCCTTCTTCCTGCTCCCAAGCTTCCCAATTCCGTCCCCTGCCCCGCTGCCGCCCGCGGCTCTCCTTCCCCTTCTAGGAACGGCTCAAGCGCCTTGGGCACTCCATCGGGTTCTGCACCGAGTTCTGCATCATAAATACGACTCTCGTGTAGGATTTAA... |
Task1_train_816 | The variant affects gene CDC20 (cell division cycle 20), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Oocyte maturation defect 14 | CCTTCAAATCGCGCTCCGCCGCTAGACTCTCGTGATAGCTGAGACTTTCCCCGGAAGGCCCGCCCCCTTCGCCGGAGAGGCCAATGGGCTAGGGCAACGGTTGCGACGGTTGGATTTTGAAGGAGCCAATAGGCGCTCGGAGCGGAGAGTTTAAGAGGCGTAAGCCAGGCGTGTTAAAGCCGGTCGGAACTGCTCCGGAGGGCACGGTGAGAGGTGGTGGGGCTGAGCCGAGGTGGGGCCGTGGCCAGGGGGAGGGGGTGCTAGGCCGGAAGGGGCTGCAGCCGAGGGTGGCCCTGATTTTGTGGCCGGCCAGGAGCGAA... | CCTTCAAATCGCGCTCCGCCGCTAGACTCTCGTGATAGCTGAGACTTTCCCCGGAAGGCCCGCCCCCTTCGCCGGAGAGGCCAATGGGCTAGGGCAACGGTTGCGACGGTTGGATTTTGAAGGAGCCAATAGGCGCTCGGAGCGGAGAGTTTAAGAGGCGTAAGCCAGGCGTGTTAAAGCCGGTCGGAACTGCTCCGGAGGGCACGGTGAGAGGTGGTGGGGCTGAGCCGAGGTGGGGCCGTGGCCAGGGGGAGGGGGTGCTAGGCCGGAAGGGGCTGCAGCCGAGGGTGGCCCTGATTTTGTGGCCGGCCAGGAGCGAA... |
Task1_train_817 | Gene CDC20 (cell division cycle 20) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Oocyte maturation defect 14 | TCGCCTCCTTTCCTCCAGGGCTCCGTAGGCACCAACTGCAAGGACCCCTCCCCCTGCGGGCGCTCCCATGGCACAGTTCGCGTTCGAGAGTGACCTGCACTCGCTGCTTCAGCTGGATGCACCCATCCCCAATGCACCCCCTGCGCGCTGGCAGCGCAAAGCCAAGGAAGCCGCAGGCCCGGCCCCCTCACCCATGCGGGCCGCCAACCGATCCCACAGCGCCGGCAGGACTCCGGGCCGAACTCCTGGTCAGTGAGGTGCCAAAGGAACTGAGTGAGAGCAGCCTTCATACTTTCTCCCTGGGGAGCCTGGTCAGACTG... | TCGCCTCCTTTCCTCCAGGGCTCCGTAGGCACCAACTGCAAGGACCCCTCCCCCTGCGGGCGCTCCCATGGCACAGTTCGCGTTCGAGAGTGACCTGCACTCGCTGCTTCAGCTGGATGCACCCATCCCCAATGCACCCCCTGCGCGCTGGCAGCGCAAAGCCAAGGAAGCCGCAGGCCCGGCCCCCTCACCCATGCGGGCCGCCAACCGATCCCACAGCGCCGGCAGGACTCCGGGCCGAACTCCTGGTCAGTGAGGTGCCAAAGGAACTGAGTGAGAGCAGCCTTCATACTTTCTCCCTGGGGAGCCTGGTCAGACTG... |
Task1_train_818 | Given a variant located on Chromosome 1 and affecting ELOVL1 (ELOVL fatty acid elongase 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | CATTAATGGTTGCCAGGGGCTGAGAGAGGGTAATGGGAAATGTTGAAAATGTCTTAGAATTAGTTTTAACAGTTGTACAATTTTGTGAATATACTAAAAATCACTAAACTGTACACTTTAAAAGGATGCATTTTATGGTGTGTGAATTATATCTCAGTAACACCATTGAAAAAAAAGGGAGGAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCATGAGGTCAGGAGATAGAGACAATCCTGGCTAACATGGTGAAGCCCTGTCTCTACTAAAAAACACAAAAAATTAG... | CATTAATGGTTGCCAGGGGCTGAGAGAGGGTAATGGGAAATGTTGAAAATGTCTTAGAATTAGTTTTAACAGTTGTACAATTTTGTGAATATACTAAAAATCACTAAACTGTACACTTTAAAAGGATGCATTTTATGGTGTGTGAATTATATCTCAGTAACACCATTGAAAAAAAAGGGAGGAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCATGAGGTCAGGAGATAGAGACAATCCTGGCTAACATGGTGAAGCCCTGTCTCTACTAAAAAACACAAAAAATTAG... |
Task1_train_819 | The following genetic variant occurs in SZT2 (SZT2 subunit of KICSTOR complex) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Self-limited epilepsy with centrotemporal spikes | TGAACCGTTATGCCCAGCTGTTATTGTTAACTTTTACTCTTACCAGGCATTGTGCTGAGCACTTCATATGCATGATATTCCTTGATCCACAGAACAGCACTTTAGATTGGTATTAGAATTCTCTATTTTACAAAGGAGGACATTGAAGCTTAAAGAGGTGATACAACCTTTCCACTGTCTCACAGCTAATAAGTGGATGAATTGGGATTCAAACCCAGACTTTCTGAACCTGAAATTCTTGAACTTGGCCTCTACAGAGTACTTTTTTTTTCTTACTTTTTATTTTATTGTATTTTTTTGAGATGGAGTCTCACTCTGTC... | TGAACCGTTATGCCCAGCTGTTATTGTTAACTTTTACTCTTACCAGGCATTGTGCTGAGCACTTCATATGCATGATATTCCTTGATCCACAGAACAGCACTTTAGATTGGTATTAGAATTCTCTATTTTACAAAGGAGGACATTGAAGCTTAAAGAGGTGATACAACCTTTCCACTGTCTCACAGCTAATAAGTGGATGAATTGGGATTCAAACCCAGACTTTCTGAACCTGAAATTCTTGAACTTGGCCTCTACAGAGTACTTTTTTTTTCTTACTTTTTATTTTATTGTATTTTTTTGAGATGGAGTCTCACTCTGTC... |
Task1_train_820 | The gene SZT2 (SZT2 subunit of KICSTOR complex) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Developmental and epileptic encephalopathy, 18 | CCACATGAAGCCAAGAGCCAGCGTGTAGCCTATAGGCAGGTGAATGGAATAGAGTAAGTTACTGGAGATGAGAGTTAAGGAACTGAGAGGGCAGGGACTTGAATGAGTAATCTGGAGCAGGTCTGCAAACACTTTCTGCAAAGGCCAGTCAGTCTTTAAGCCTTGTGGGCCACTTGGTCCGTCACAGCTACTCAGCTCTGCTGTTGAAGCGTGAAAGCAGCCACAGACAATACAAAATGAATGTGTGTGGCTGTGTTCCAATAAAACTCGATTCACAAAAATAGGTGATGGACTAGATTTGGCCCTCAGGGTATATGTAG... | CCACATGAAGCCAAGAGCCAGCGTGTAGCCTATAGGCAGGTGAATGGAATAGAGTAAGTTACTGGAGATGAGAGTTAAGGAACTGAGAGGGCAGGGACTTGAATGAGTAATCTGGAGCAGGTCTGCAAACACTTTCTGCAAAGGCCAGTCAGTCTTTAAGCCTTGTGGGCCACTTGGTCCGTCACAGCTACTCAGCTCTGCTGTTGAAGCGTGAAAGCAGCCACAGACAATACAAAATGAATGTGTGTGGCTGTGTTCCAATAAAACTCGATTCACAAAAATAGGTGATGGACTAGATTTGGCCCTCAGGGTATATGTAG... |
Task1_train_821 | Mutation context: Chromosome 1, Gene SZT2 (SZT2 subunit of KICSTOR complex). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Self-limited epilepsy with centrotemporal spikes | TGCACGGTAAGTAGAAGCCAGGGCCTGCACCCTCATGCTCCCATTAACCTCTTCTCTCTGCTCCCACAGTACCTCTCTCCAGTGTTGTTAGAAGTAAGACTTGGGACTGAGAGCTTGGGTAGAGATCCAACTTGTATTCTTAGGTTGGTGGTTCCCGATCACTTCCCACATCTTACAGCTAAGCACATCACATTCAACTGTCTTATAGATGAGAGTCGAAAAGCTGATGGGGATTTTGGCTTCTCGCTGAGCATTAACAACATCTAAGGATCAGAGCAGCTTTAGAAGTTCGTGTATAAAAATAAAGCATAATAAGGCTG... | TGCACGGTAAGTAGAAGCCAGGGCCTGCACCCTCATGCTCCCATTAACCTCTTCTCTCTGCTCCCACAGTACCTCTCTCCAGTGTTGTTAGAAGTAAGACTTGGGACTGAGAGCTTGGGTAGAGATCCAACTTGTATTCTTAGGTTGGTGGTTCCCGATCACTTCCCACATCTTACAGCTAAGCACATCACATTCAACTGTCTTATAGATGAGAGTCGAAAAGCTGATGGGGATTTTGGCTTCTCGCTGAGCATTAACAACATCTAAGGATCAGAGCAGCTTTAGAAGTTCGTGTATAAAAATAAAGCATAATAAGGCTG... |
Task1_train_822 | Here is a variant affecting SZT2 (SZT2 subunit of KICSTOR complex) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Self-limited epilepsy with centrotemporal spikes | GGTAAGGTCTGAGGAGGGGGTAGGGGAGTCGCCACATGAGGTTCCAGAATCCTCTGGGACTTCTCTTAGAACCTTGCAAGCATTACACTAGAAGTTATGTAACAGTCTCAGCCCAAGACCTGACACATGTTAAGTGAGCCATAAATACTAGCTGGAGGCTCCAGACCCTCTGGGACTTCTCTTAGAACCTCCTATTACTCTGCCCTGGGTCCCTCCTCTAGTTCCTGCTGTGCTCGGGTCTTTCCTCAAGCAGGAGCTGCATGGGAAGGGACTGGCTTCTGCCATGTTCAGGGTTAGGACTGCAGTTGACTGAGGCACAG... | GGTAAGGTCTGAGGAGGGGGTAGGGGAGTCGCCACATGAGGTTCCAGAATCCTCTGGGACTTCTCTTAGAACCTTGCAAGCATTACACTAGAAGTTATGTAACAGTCTCAGCCCAAGACCTGACACATGTTAAGTGAGCCATAAATACTAGCTGGAGGCTCCAGACCCTCTGGGACTTCTCTTAGAACCTCCTATTACTCTGCCCTGGGTCCCTCCTCTAGTTCCTGCTGTGCTCGGGTCTTTCCTCAAGCAGGAGCTGCATGGGAAGGGACTGGCTTCTGCCATGTTCAGGGTTAGGACTGCAGTTGACTGAGGCACAG... |
Task1_train_823 | A variant on Chromosome 1 in gene SZT2 (SZT2 subunit of KICSTOR complex) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Developmental and epileptic encephalopathy, 18 | GATCAGTGATGGGTGTCTGTAATGTCTGATGTCCACAGGAAGTCTCAGGAACGGATCGTTGGAAACTAAGAGCTCTGCAGGCCGAGCTAGCACCTTTCCCCCTGCCCCTGTCCCTGGGGAGCCTGTGACTCCACCCAGCAAAGCGGGCCGGCGTAGCTTCTGGGATATGCTGGTAATGGAAGAAGTGGTGAAGTGGGCATCTACCTTTCTGCCTGCCTCCTAGCTCCTCCCACACTCCCTCCTGCTTCCCAGTCCCCCATAGGCCTTGCCACAGTGTCCTTTCATATAAAACTGCTCTGTCCTGCCAGACACCATGGCGT... | GATCAGTGATGGGTGTCTGTAATGTCTGATGTCCACAGGAAGTCTCAGGAACGGATCGTTGGAAACTAAGAGCTCTGCAGGCCGAGCTAGCACCTTTCCCCCTGCCCCTGTCCCTGGGGAGCCTGTGACTCCACCCAGCAAAGCGGGCCGGCGTAGCTTCTGGGATATGCTGGTAATGGAAGAAGTGGTGAAGTGGGCATCTACCTTTCTGCCTGCCTCCTAGCTCCTCCCACACTCCCTCCTGCTTCCCAGTCCCCCATAGGCCTTGCCACAGTGTCCTTTCATATAAAACTGCTCTGTCCTGCCAGACACCATGGCGT... |
Task1_train_824 | Chromosome 1 houses a mutation in gene SZT2 (SZT2 subunit of KICSTOR complex). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Developmental and epileptic encephalopathy, 18 | TAACTTACTATGTGCCTTCACTTCCATTTTTCTTGTCGGATCCTCACAACAGCTTGCAAGATAAGTAGAGCTTTTACAGTGAGGAAGGTGAGGCTCAGGAAAGTTAGGTAACCTGCCCAAGGCTCCTTAGCCAGCCCCTGGGGAAGCCAGGGTCTGAACCCAGACCTCTGAATCCTCCTAGCTCACTGCTGTTCCATAGTGCCCCCATCCCACACCTTTCCTCTTCCCAGTAGCCCTTCCTCATTCACTGCATTGCCCCCAGAGTAAAACAGAATGTGGGGATTTGGGTTCCCCCAAAACAACTGATGACATTGTCCTGG... | TAACTTACTATGTGCCTTCACTTCCATTTTTCTTGTCGGATCCTCACAACAGCTTGCAAGATAAGTAGAGCTTTTACAGTGAGGAAGGTGAGGCTCAGGAAAGTTAGGTAACCTGCCCAAGGCTCCTTAGCCAGCCCCTGGGGAAGCCAGGGTCTGAACCCAGACCTCTGAATCCTCCTAGCTCACTGCTGTTCCATAGTGCCCCCATCCCACACCTTTCCTCTTCCCAGTAGCCCTTCCTCATTCACTGCATTGCCCCCAGAGTAAAACAGAATGTGGGGATTTGGGTTCCCCCAAAACAACTGATGACATTGTCCTGG... |
Task1_train_825 | Gene ST3GAL3 (ST3 beta-galactoside alpha-2,3-sialyltransferase 3) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Intellectual disability, autosomal recessive 12 | TCACTTTATGTTTTCTTTTCTTTCTTCTCTTTCTTTCTTCTTCTTCTTTTTTTTTTGTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGCTCACAACTCACTGCAGCCTCAACCTCCTGGGCTTAAAGGATCCTCCTGCCTCAGCTTCCTGGGTAGCTAGGACCACAGATGCACACTACTAGGCCTGGCTAACTTTTTAATTTTTCTTTTTGTAGAGATAGGATCTCATCATGTTGCCTAGGCTGGCCTCAAACTCCAGGGCTCAAGCAGTTCTCCTGCCTCAGCCTACCAA... | TCACTTTATGTTTTCTTTTCTTTCTTCTCTTTCTTTCTTCTTCTTCTTTTTTTTTTGTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGCTCACAACTCACTGCAGCCTCAACCTCCTGGGCTTAAAGGATCCTCCTGCCTCAGCTTCCTGGGTAGCTAGGACCACAGATGCACACTACTAGGCCTGGCTAACTTTTTAATTTTTCTTTTTGTAGAGATAGGATCTCATCATGTTGCCTAGGCTGGCCTCAAACTCCAGGGCTCAAGCAGTTCTCCTGCCTCAGCCTACCAA... |
Task1_train_826 | The gene ST3GAL3 (ST3 beta-galactoside alpha-2,3-sialyltransferase 3) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Developmental and epileptic encephalopathy, 15 | TGGAGCCTTCCCATCCAGGAATATGATTTTGTCTTTCCTATTTTTTAAGTCATCTCTTTATATCAGTAAAAGGTTATAGTTTTCCTCCTATAGTTCTCACATATTTCTTATGTTTATTGCTCAATACTTGACTTTTTTGTTACGATTGCAAATAAGATCTTTTTGTTATATCTGATGACTGTTTCCTATTGCTGCAGTAAATTATTTTATCCATTCTAAGTTTAGTTGATTCTTTTAGGTTTTCTTTCTTTTCTTTCCTTTCTTTGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCC... | TGGAGCCTTCCCATCCAGGAATATGATTTTGTCTTTCCTATTTTTTAAGTCATCTCTTTATATCAGTAAAAGGTTATAGTTTTCCTCCTATAGTTCTCACATATTTCTTATGTTTATTGCTCAATACTTGACTTTTTTGTTACGATTGCAAATAAGATCTTTTTGTTATATCTGATGACTGTTTCCTATTGCTGCAGTAAATTATTTTATCCATTCTAAGTTTAGTTGATTCTTTTAGGTTTTCTTTCTTTTCTTTCCTTTCTTTGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCC... |
Task1_train_827 | Assess the clinical impact of this variant on gene ST3GAL3 (ST3 beta-galactoside alpha-2,3-sialyltransferase 3), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Intellectual disability, autosomal recessive 12 | TTTATTTATTATTTTTCAAAAGATGGGGTTTCTATATGTTGCCCAGGTGGACTAAGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGACTACAGGCACAGGGCACTGCATCCAGCTCACTTCTCAGCACCACTAAATAGTGGCTGTTAACAGTTATTGGCCGGGCACGATGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAGGCTGGTGGATCACAAGGTCAGGAGATAGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGC... | TTTATTTATTATTTTTCAAAAGATGGGGTTTCTATATGTTGCCCAGGTGGACTAAGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGACTACAGGCACAGGGCACTGCATCCAGCTCACTTCTCAGCACCACTAAATAGTGGCTGTTAACAGTTATTGGCCGGGCACGATGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAGGCTGGTGGATCACAAGGTCAGGAGATAGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGC... |
Task1_train_828 | This genomic variant is located on Chromosome 1, within the SLC6A9 (solute carrier family 6 member 9) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Atypical glycine encephalopathy | CCCAGAAGGCATGGCACTCTGGGGTGGTGGTGCCTGCCCTCCCCTGCCTCCCACCACTGAGACTTCCGTTCCTCCTGTTTCAAAGCTGGGCCAGTGGCCAGAGCGGGGAGCCTGTGCCAGGCTCGGGAACATCCCACAACCTACCGGGTAGAGGCCTCAGCCCTCCACGGGCCTTTATTCAGAAACATGAGCCACAGGGGAAGTCTGGTGCTGAGCCCCCTGTGCCACCGAGGCATTAAACATGACAAGAGTGTGGCTCTGAACACTGGCCGGGCCACTGGGCCAGCCCTCTGACTATCACTCAGAGGTGGCCTTGCCTG... | CCCAGAAGGCATGGCACTCTGGGGTGGTGGTGCCTGCCCTCCCCTGCCTCCCACCACTGAGACTTCCGTTCCTCCTGTTTCAAAGCTGGGCCAGTGGCCAGAGCGGGGAGCCTGTGCCAGGCTCGGGAACATCCCACAACCTACCGGGTAGAGGCCTCAGCCCTCCACGGGCCTTTATTCAGAAACATGAGCCACAGGGGAAGTCTGGTGCTGAGCCCCCTGTGCCACCGAGGCATTAAACATGACAAGAGTGTGGCTCTGAACACTGGCCGGGCCACTGGGCCAGCCCTCTGACTATCACTCAGAGGTGGCCTTGCCTG... |
Task1_train_829 | This variant affects the gene RNF220 (ring finger protein 220) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy | CTTTTGGTTTGGGTCTTTCTGGGGTTGCTCTGTTTTGGAGTTGGAGTAGCTCCCTGCCTCAGGCTCACAACAGGCAGGAGCTGGAGCCCTAGCACACTCACTGGGACCAGTCTTTGTTGATGCTGCTCAGTTAGGAGGTCCCCTTGAAACAGGAGGGCATTCTAGGTTGTGAAGTCAGTTCTGGTTTCCTATCTTGCCTTTGCCACTTTTTAGCTACTTGGACACGTACCTTGATCTCTCTAAGCTTTGGGTTTCTTCATCTGTTAAAATGGGATAATGCAATCTAGCTTCAGCAAGTGGTAGTAAATGAGCTACCTTGG... | CTTTTGGTTTGGGTCTTTCTGGGGTTGCTCTGTTTTGGAGTTGGAGTAGCTCCCTGCCTCAGGCTCACAACAGGCAGGAGCTGGAGCCCTAGCACACTCACTGGGACCAGTCTTTGTTGATGCTGCTCAGTTAGGAGGTCCCCTTGAAACAGGAGGGCATTCTAGGTTGTGAAGTCAGTTCTGGTTTCCTATCTTGCCTTTGCCACTTTTTAGCTACTTGGACACGTACCTTGATCTCTCTAAGCTTTGGGTTTCTTCATCTGTTAAAATGGGATAATGCAATCTAGCTTCAGCAAGTGGTAGTAAATGAGCTACCTTGG... |
Task1_train_830 | This variant lies on Chromosome 1 and affects the gene RNF220 (ring finger protein 220). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy | GTTTGGGTCTTTCTGGGGTTGCTCTGTTTTGGAGTTGGAGTAGCTCCCTGCCTCAGGCTCACAACAGGCAGGAGCTGGAGCCCTAGCACACTCACTGGGACCAGTCTTTGTTGATGCTGCTCAGTTAGGAGGTCCCCTTGAAACAGGAGGGCATTCTAGGTTGTGAAGTCAGTTCTGGTTTCCTATCTTGCCTTTGCCACTTTTTAGCTACTTGGACACGTACCTTGATCTCTCTAAGCTTTGGGTTTCTTCATCTGTTAAAATGGGATAATGCAATCTAGCTTCAGCAAGTGGTAGTAAATGAGCTACCTTGGGTAAGG... | GTTTGGGTCTTTCTGGGGTTGCTCTGTTTTGGAGTTGGAGTAGCTCCCTGCCTCAGGCTCACAACAGGCAGGAGCTGGAGCCCTAGCACACTCACTGGGACCAGTCTTTGTTGATGCTGCTCAGTTAGGAGGTCCCCTTGAAACAGGAGGGCATTCTAGGTTGTGAAGTCAGTTCTGGTTTCCTATCTTGCCTTTGCCACTTTTTAGCTACTTGGACACGTACCTTGATCTCTCTAAGCTTTGGGTTTCTTCATCTGTTAAAATGGGATAATGCAATCTAGCTTCAGCAAGTGGTAGTAAATGAGCTACCTTGGGTAAGG... |
Task1_train_831 | The gene EIF2B3 (eukaryotic translation initiation factor 2B subunit gamma) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | AGGTTATGTATCCCTTATCTGAAATACTTGGGACCAGAAGTGTTTTATTTTTTATTTATTTATTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCACCACACCTGGCTAATTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTACACCATGTTGGCCAGGCTAATCTCGAACTCCTGACCTCAGGTGATGCACCTGCCTCAGCC... | AGGTTATGTATCCCTTATCTGAAATACTTGGGACCAGAAGTGTTTTATTTTTTATTTATTTATTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCACCACACCTGGCTAATTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTACACCATGTTGGCCAGGCTAATCTCGAACTCCTGACCTCAGGTGATGCACCTGCCTCAGCC... |
Task1_train_832 | This variant affects the gene EIF2B3 (eukaryotic translation initiation factor 2B subunit gamma) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Vanishing white matter disease | CTCCCTTGACGTGCCAGGTCTTGCTCAACCTTGGGAATGACAGGGATTCTTAACAAGTTACTATGTACCTAATGAAGAAACAGACAAGTGGCTCAGTCTGTTTCTAGGACAAGAGCCCCATGATTTTCTAACTCATGCTCTCACCTGTCTGTTTGCTTCCATGTAGAGTCCCAGTGTGCTCACTCGAGAGCAGAGCCCCTCTTTCATGATGTGGACATAGCAGCGCACCTGTGATCTGGACAAGTCTTCCCACCTGTCTCCTCGACAGGCATTCCAGCAGGCATCATAGGGAGCCAGGTTCAGTGTATTGGCTTCTTTTA... | CTCCCTTGACGTGCCAGGTCTTGCTCAACCTTGGGAATGACAGGGATTCTTAACAAGTTACTATGTACCTAATGAAGAAACAGACAAGTGGCTCAGTCTGTTTCTAGGACAAGAGCCCCATGATTTTCTAACTCATGCTCTCACCTGTCTGTTTGCTTCCATGTAGAGTCCCAGTGTGCTCACTCGAGAGCAGAGCCCCTCTTTCATGATGTGGACATAGCAGCGCACCTGTGATCTGGACAAGTCTTCCCACCTGTCTCCTCGACAGGCATTCCAGCAGGCATCATAGGGAGCCAGGTTCAGTGTATTGGCTTCTTTTA... |
Task1_train_833 | Assess the clinical impact of this variant on gene EIF2B3 (eukaryotic translation initiation factor 2B subunit gamma), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Leukoencephalopathy with vanishing white matter 3 | CTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGCCCTGGAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCTTGTCTCTATAAAAAAACTCCAAAAAACCAGAGGTTTAGGTGGGAGGATTGCTTGAGTCTGGGAGGTGGAGGTTGCAGTGGGCCAAGATCACCCCACTGCACTCCAGCCTGGGTAACAGAGTGAGTCTGTCTCAAAACAAACAAACAAACAAAAAAAAACCTCAGGTCTATATGAATGGTGCCCACACTTTAATATATTATATGCCACTTCTCCTTGATATGAAGAATTCAGAAGAACATTAATCAA... | CTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGCCCTGGAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCTTGTCTCTATAAAAAAACTCCAAAAAACCAGAGGTTTAGGTGGGAGGATTGCTTGAGTCTGGGAGGTGGAGGTTGCAGTGGGCCAAGATCACCCCACTGCACTCCAGCCTGGGTAACAGAGTGAGTCTGTCTCAAAACAAACAAACAAACAAAAAAAAACCTCAGGTCTATATGAATGGTGCCCACACTTTAATATATTATATGCCACTTCTCCTTGATATGAAGAATTCAGAAGAACATTAATCAA... |
Task1_train_834 | With a mutation on Chromosome 1 in gene UROD (uroporphyrinogen decarboxylase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | AGCGCTGCTGGCAGCGGCCGCCCGGCGCGGAGGCTCCGCGCTGCCTCTGCCAAGAAGCGCACGCGGCCCAGCAGCTGCCGGGGGGACTCCAGCACCGCGCCCGGGCCAGGACCCGCCATGGCGAAGTGGCGGAGGTGAGCACCTAGAGGCGACCCTGCCCGGGGAACAGCTGGCGCGACCGCGGACAGAGCTTCCCACCACGCCCTTCCCCGCCTTTGGCCAGCCTTTGCCGTATGTTCTGGACTAAGCGCACCCCAGCTCTCACTGTATTGGACTGTGTACTCCCACACTCAACCATATTACTTATCTCTGTGCCACCC... | AGCGCTGCTGGCAGCGGCCGCCCGGCGCGGAGGCTCCGCGCTGCCTCTGCCAAGAAGCGCACGCGGCCCAGCAGCTGCCGGGGGGACTCCAGCACCGCGCCCGGGCCAGGACCCGCCATGGCGAAGTGGCGGAGGTGAGCACCTAGAGGCGACCCTGCCCGGGGAACAGCTGGCGCGACCGCGGACAGAGCTTCCCACCACGCCCTTCCCCGCCTTTGGCCAGCCTTTGCCGTATGTTCTGGACTAAGCGCACCCCAGCTCTCACTGTATTGGACTGTGTACTCCCACACTCAACCATATTACTTATCTCTGTGCCACCC... |
Task1_train_835 | This variant impacts the gene UROD (uroporphyrinogen decarboxylase) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | CGGAGGTGAGCACCTAGAGGCGACCCTGCCCGGGGAACAGCTGGCGCGACCGCGGACAGAGCTTCCCACCACGCCCTTCCCCGCCTTTGGCCAGCCTTTGCCGTATGTTCTGGACTAAGCGCACCCCAGCTCTCACTGTATTGGACTGTGTACTCCCACACTCAACCATATTACTTATCTCTGTGCCACCCTAACCCAGCCGACCAAACCCAAGATTGGTGATTGCTACCTGATCAATCTCCCTCTCTCCATTTCCTTGTGACTACCATTTTATCTCTACTGCTACTACCCTCATTCAAGTCACCATTCTAGCTAGCCTG... | CGGAGGTGAGCACCTAGAGGCGACCCTGCCCGGGGAACAGCTGGCGCGACCGCGGACAGAGCTTCCCACCACGCCCTTCCCCGCCTTTGGCCAGCCTTTGCCGTATGTTCTGGACTAAGCGCACCCCAGCTCTCACTGTATTGGACTGTGTACTCCCACACTCAACCATATTACTTATCTCTGTGCCACCCTAACCCAGCCGACCAAACCCAAGATTGGTGATTGCTACCTGATCAATCTCCCTCTCTCCATTTCCTTGTGACTACCATTTTATCTCTACTGCTACTACCCTCATTCAAGTCACCATTCTAGCTAGCCTG... |
Task1_train_836 | The gene UROD (uroporphyrinogen decarboxylase) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | TGCACCTACTATAGGTCCAGGCTATAGTATGGACCTGGCTGGATAAGACTGTTGGTATCATGAGTGGGACTTGCGCCAAGCCTCCGGATACCCAGACTGTCAGATGAGAACAAATTCCTCATGTCACCGTAAGATACATTTACAGCGGAGTTTTCTTTTGGGCCTTTGTTGTTGCGTCGCTACAGCAAACTTTACGGTGAAAAAAGGTAGGGGTCCTACGGGCAGCAGCCAGGGCAGCCCTGGAGCTGTCGCTGGAGTCCGATCATGTGATCTTCAACATGGCGACGCTCTTGGTTCCCTACAGAAAGGGGCGGAGCCTG... | TGCACCTACTATAGGTCCAGGCTATAGTATGGACCTGGCTGGATAAGACTGTTGGTATCATGAGTGGGACTTGCGCCAAGCCTCCGGATACCCAGACTGTCAGATGAGAACAAATTCCTCATGTCACCGTAAGATACATTTACAGCGGAGTTTTCTTTTGGGCCTTTGTTGTTGCGTCGCTACAGCAAACTTTACGGTGAAAAAAGGTAGGGGTCCTACGGGCAGCAGCCAGGGCAGCCCTGGAGCTGTCGCTGGAGTCCGATCATGTGATCTTCAACATGGCGACGCTCTTGGTTCCCTACAGAAAGGGGCGGAGCCTG... |
Task1_train_837 | Here is a mutation in UROD (uroporphyrinogen decarboxylase) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | ACCTACTATAGGTCCAGGCTATAGTATGGACCTGGCTGGATAAGACTGTTGGTATCATGAGTGGGACTTGCGCCAAGCCTCCGGATACCCAGACTGTCAGATGAGAACAAATTCCTCATGTCACCGTAAGATACATTTACAGCGGAGTTTTCTTTTGGGCCTTTGTTGTTGCGTCGCTACAGCAAACTTTACGGTGAAAAAAGGTAGGGGTCCTACGGGCAGCAGCCAGGGCAGCCCTGGAGCTGTCGCTGGAGTCCGATCATGTGATCTTCAACATGGCGACGCTCTTGGTTCCCTACAGAAAGGGGCGGAGCCTGGAC... | ACCTACTATAGGTCCAGGCTATAGTATGGACCTGGCTGGATAAGACTGTTGGTATCATGAGTGGGACTTGCGCCAAGCCTCCGGATACCCAGACTGTCAGATGAGAACAAATTCCTCATGTCACCGTAAGATACATTTACAGCGGAGTTTTCTTTTGGGCCTTTGTTGTTGCGTCGCTACAGCAAACTTTACGGTGAAAAAAGGTAGGGGTCCTACGGGCAGCAGCCAGGGCAGCCCTGGAGCTGTCGCTGGAGTCCGATCATGTGATCTTCAACATGGCGACGCTCTTGGTTCCCTACAGAAAGGGGCGGAGCCTGGAC... |
Task1_train_838 | A sequence alteration has been identified in UROD (uroporphyrinogen decarboxylase) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Familial porphyria cutanea tarda | ACCCAGACTGTCAGATGAGAACAAATTCCTCATGTCACCGTAAGATACATTTACAGCGGAGTTTTCTTTTGGGCCTTTGTTGTTGCGTCGCTACAGCAAACTTTACGGTGAAAAAAGGTAGGGGTCCTACGGGCAGCAGCCAGGGCAGCCCTGGAGCTGTCGCTGGAGTCCGATCATGTGATCTTCAACATGGCGACGCTCTTGGTTCCCTACAGAAAGGGGCGGAGCCTGGACTGGGGGGCAGGCTCAGATTCAGGTTAAATTGTGGATTGAGCTCGCAGTTACAGACAGCTGACCATGGAAGCGAATGGGTTGGGGTG... | ACCCAGACTGTCAGATGAGAACAAATTCCTCATGTCACCGTAAGATACATTTACAGCGGAGTTTTCTTTTGGGCCTTTGTTGTTGCGTCGCTACAGCAAACTTTACGGTGAAAAAAGGTAGGGGTCCTACGGGCAGCAGCCAGGGCAGCCCTGGAGCTGTCGCTGGAGTCCGATCATGTGATCTTCAACATGGCGACGCTCTTGGTTCCCTACAGAAAGGGGCGGAGCCTGGACTGGGGGGCAGGCTCAGATTCAGGTTAAATTGTGGATTGAGCTCGCAGTTACAGACAGCTGACCATGGAAGCGAATGGGTTGGGGTG... |
Task1_train_839 | This variant lies on Chromosome 1 and affects the gene UROD (uroporphyrinogen decarboxylase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | AGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCG... | AGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCG... |
Task1_train_840 | Chromosome 1 houses a mutation in gene UROD (uroporphyrinogen decarboxylase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | AGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCG... | AGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCG... |
Task1_train_841 | A mutation in UROD (uroporphyrinogen decarboxylase), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hepatoerythropoietic porphyria | GGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAG... | GGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAG... |
Task1_train_842 | Consider a variant on Chromosome 1 in gene UROD (uroporphyrinogen decarboxylase). Determine its clinical classification and disease relevance. | Pathogenic; not provided | GAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTAT... | GAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTAT... |
Task1_train_843 | A variant on Chromosome 1 in gene HPDL, LOC129930439 (4-hydroxyphenylpyruvate dioxygenase like| ATAC-STARR-seq lymphoblastoid active region 964) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Inborn genetic diseases | TGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACATCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCTCTGAAAAACTTTTTAAAATAAATAAATATTAGAATATGTGGGAAAATAAAATTAATTAAAAAAAAAAACAGTAACTACAATAGCAACAGCTACTATTTACTGAACACTTACTCCACCTCACTTAATCACAA... | TGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACATCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCTCTGAAAAACTTTTTAAAATAAATAAATATTAGAATATGTGGGAAAATAAAATTAATTAAAAAAAAAAACAGTAACTACAATAGCAACAGCTACTATTTACTGAACACTTACTCCACCTCACTTAATCACAA... |
Task1_train_844 | Located on Chromosome 1, this mutation impacts HPDL, LOC129930439 (4-hydroxyphenylpyruvate dioxygenase like| ATAC-STARR-seq lymphoblastoid active region 964). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | TGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACATCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCTCTGAAAAACTTTTTAAAATAAATAAATATTAGAATATGTGGGAAAATAAAATTAATTAAAAAAAAAAACAGTAACTACAATAGCAACAGCTACTATTTACTGAACACTTACTCCACCTCACTTAATCACAA... | TGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACATCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCTCTGAAAAACTTTTTAAAATAAATAAATATTAGAATATGTGGGAAAATAAAATTAATTAAAAAAAAAAACAGTAACTACAATAGCAACAGCTACTATTTACTGAACACTTACTCCACCTCACTTAATCACAA... |
Task1_train_845 | Here’s a variant in HPDL (4-hydroxyphenylpyruvate dioxygenase like) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Spastic paraplegia 83, autosomal recessive | CCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCTCTGAAAAACTTTTTAAAATAAATAAATATTAGAATATGTGGGAAAATAAAATTAATTAAAAAAAAAAACAGTAACTACAATAGCAACAGCTACTATTTACTGAACACTTACTCCACCTCACTTAATCACAACTCTTTGAAGTAGGTACTATTATTTCCATTTTTACAGATGGGCAAATTAAGGCTCAGAGGCGTTAAGCAACTTGCCCATACAGACAGTAAGTGTTGCTGGTGATTCAAACCCAGGTCCGTCTGGCTTTTGGAACTCATGTCCTCAC... | CCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCTCTGAAAAACTTTTTAAAATAAATAAATATTAGAATATGTGGGAAAATAAAATTAATTAAAAAAAAAAACAGTAACTACAATAGCAACAGCTACTATTTACTGAACACTTACTCCACCTCACTTAATCACAACTCTTTGAAGTAGGTACTATTATTTCCATTTTTACAGATGGGCAAATTAAGGCTCAGAGGCGTTAAGCAACTTGCCCATACAGACAGTAAGTGTTGCTGGTGATTCAAACCCAGGTCCGTCTGGCTTTTGGAACTCATGTCCTCAC... |
Task1_train_846 | This alteration in HPDL (4-hydroxyphenylpyruvate dioxygenase like) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Spastic ataxia | CCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCTCTGAAAAACTTTTTAAAATAAATAAATATTAGAATATGTGGGAAAATAAAATTAATTAAAAAAAAAAACAGTAACTACAATAGCAACAGCTACTATTTACTGAACACTTACTCCACCTCACTTAATCACAACTCTTTGAAGTAGGTACTATTATTTCCATTTTTACAGATGGGCAAATTAAGGCTCAGAGGCGTTAAGCAACTTGCCCATACAGACAGTAAGTGTTGCTGGTGATTCAAACCCAGGTCCGTCTGGCTTTTGGAACTCATGTCCTCAC... | CCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCTCTGAAAAACTTTTTAAAATAAATAAATATTAGAATATGTGGGAAAATAAAATTAATTAAAAAAAAAAACAGTAACTACAATAGCAACAGCTACTATTTACTGAACACTTACTCCACCTCACTTAATCACAACTCTTTGAAGTAGGTACTATTATTTCCATTTTTACAGATGGGCAAATTAAGGCTCAGAGGCGTTAAGCAACTTGCCCATACAGACAGTAAGTGTTGCTGGTGATTCAAACCCAGGTCCGTCTGGCTTTTGGAACTCATGTCCTCAC... |
Task1_train_847 | A genetic alteration is present in HPDL (4-hydroxyphenylpyruvate dioxygenase like) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | TACTGCCCTCCTGCCTGCAGGCCTGAACACCATGACATCCAGCTAGCCCCTGTCCCCTATGACATCCTTCTCCCTCTTGCCAATGAAACCCAGTAGATCAGGCTGCCTGACAAAAAAATTTCTTGTGATGCCTTGGACTGTGGCATTCATCCTAAATGCCTCCCTAACAGCATGGCCCATTGCTCCTCTAAGAGTCTGGCTCACACTCTTACTGAGTTTTTGCTTATGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCT... | TACTGCCCTCCTGCCTGCAGGCCTGAACACCATGACATCCAGCTAGCCCCTGTCCCCTATGACATCCTTCTCCCTCTTGCCAATGAAACCCAGTAGATCAGGCTGCCTGACAAAAAAATTTCTTGTGATGCCTTGGACTGTGGCATTCATCCTAAATGCCTCCCTAACAGCATGGCCCATTGCTCCTCTAAGAGTCTGGCTCACACTCTTACTGAGTTTTTGCTTATGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCT... |
Task1_train_848 | A mutation in HPDL (4-hydroxyphenylpyruvate dioxygenase like), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | CTGCCTGCAGGCCTGAACACCATGACATCCAGCTAGCCCCTGTCCCCTATGACATCCTTCTCCCTCTTGCCAATGAAACCCAGTAGATCAGGCTGCCTGACAAAAAAATTTCTTGTGATGCCTTGGACTGTGGCATTCATCCTAAATGCCTCCCTAACAGCATGGCCCATTGCTCCTCTAAGAGTCTGGCTCACACTCTTACTGAGTTTTTGCTTATGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTC... | CTGCCTGCAGGCCTGAACACCATGACATCCAGCTAGCCCCTGTCCCCTATGACATCCTTCTCCCTCTTGCCAATGAAACCCAGTAGATCAGGCTGCCTGACAAAAAAATTTCTTGTGATGCCTTGGACTGTGGCATTCATCCTAAATGCCTCCCTAACAGCATGGCCCATTGCTCCTCTAAGAGTCTGGCTCACACTCTTACTGAGTTTTTGCTTATGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTC... |
Task1_train_849 | This sequence variant lies in HPDL (4-hydroxyphenylpyruvate dioxygenase like) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | TGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGT... | TGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGT... |
Task1_train_850 | Here is a variant affecting HPDL (4-hydroxyphenylpyruvate dioxygenase like) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | TCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTT... | TCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTT... |
Task1_train_851 | This genomic variant is located on Chromosome 1, within the MUTYH (mutY DNA glycosylase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Gastric cancer | GGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAG... | GGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAG... |
Task1_train_852 | The gene MUTYH (mutY DNA glycosylase) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Gastric cancer | GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCAC... | GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCAC... |
Task1_train_853 | This genomic variant is located on Chromosome 1, within the MUTYH (mutY DNA glycosylase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Familial adenomatous polyposis 2 | GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCAC... | GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCAC... |
Task1_train_854 | This genomic variant is located on Chromosome 1, within the MUTYH (mutY DNA glycosylase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hereditary cancer-predisposing syndrome | GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCAC... | GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCAC... |
Task1_train_855 | A mutation found in MUTYH (mutY DNA glycosylase) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; B lymphoblastic leukemia lymphoma, no ICD-O subtype | GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCAC... | GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCAC... |
Task1_train_856 | Consider a variant on Chromosome 1 in gene MUTYH (mutY DNA glycosylase). Determine its clinical classification and disease relevance. | Pathogenic; Familial adenomatous polyposis 2 | GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCAC... | GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCAC... |
Task1_train_857 | This alteration in MUTYH (mutY DNA glycosylase) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Familial colorectal cancer | TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAA... | TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAA... |
Task1_train_858 | Here’s a variant in MUTYH (mutY DNA glycosylase) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Familial adenomatous polyposis 2 | TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAA... | TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAA... |
Task1_train_859 | Given this context: Chromosome 1, gene MUTYH (mutY DNA glycosylase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Familial adenomatous polyposis 2 | TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAA... | TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAA... |
Task1_train_860 | A variant on Chromosome 1 in gene MUTYH (mutY DNA glycosylase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Gastric cancer | TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAA... | TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAA... |
Task1_train_861 | The gene MUTYH (mutY DNA glycosylase) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hereditary cancer-predisposing syndrome | TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAA... | TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAA... |
Task1_train_862 | This alteration occurs within gene MUTYH (mutY DNA glycosylase) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; not specified | TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAA... | TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAA... |
Task1_train_863 | The variant affects gene MUTYH (mutY DNA glycosylase), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hereditary cancer-predisposing syndrome | TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAA... | TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAA... |
Task1_train_864 | Gene MUTYH (mutY DNA glycosylase) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Gastric cancer | TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAA... | TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAA... |
Task1_train_865 | This variant affects the gene MUTYH (mutY DNA glycosylase) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Familial adenomatous polyposis 2 | TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAA... | TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAA... |
Task1_train_866 | With a mutation on Chromosome 1 in gene MUTYH (mutY DNA glycosylase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Familial adenomatous polyposis 2 | TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAA... | TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAA... |
Task1_train_867 | The following genetic variant occurs in MUTYH (mutY DNA glycosylase) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Familial colorectal cancer type X | TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAA... | TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAA... |
Task1_train_868 | This genomic variant is located on Chromosome 1, within the MUTYH (mutY DNA glycosylase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Familial adenomatous polyposis 2 | CACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGA... | CACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGA... |
Task1_train_869 | This mutation occurs in MUTYH (mutY DNA glycosylase) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | CACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGA... | CACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGA... |
Task1_train_870 | This is a variant in TOE1 (target of EGR1, exonuclease), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Pontocerebellar hypoplasia type 7 | GTCAGCAAAAGCACAACATCTGGGGAGGAGCTAGTAGTCCAGGTTCCCGTAGTGGATGTGCAAAGCAACAACTTCAAGGAGATGTGGCCATCCCTCCTGCTAGCCATAAAGACAGCTAATTTCGTGGCTGTGGACACGGTGAGAGTTGGGAAACAAGGAGGGCAGGTGGTTGTGAAGGGGCTGGTGCTAGAGGCCTGTCACAACTCTCCCTTTACCTACCCACAGGAGCTGAGTGGGCTTGGGGACAGGAAGAGTTTGCTGAACCAGTAAGTATAAGCCCTTTTCTCTTTAGTGCCAGCCCTCAACTGTGGAGTGGGGGG... | GTCAGCAAAAGCACAACATCTGGGGAGGAGCTAGTAGTCCAGGTTCCCGTAGTGGATGTGCAAAGCAACAACTTCAAGGAGATGTGGCCATCCCTCCTGCTAGCCATAAAGACAGCTAATTTCGTGGCTGTGGACACGGTGAGAGTTGGGAAACAAGGAGGGCAGGTGGTTGTGAAGGGGCTGGTGCTAGAGGCCTGTCACAACTCTCCCTTTACCTACCCACAGGAGCTGAGTGGGCTTGGGGACAGGAAGAGTTTGCTGAACCAGTAAGTATAAGCCCTTTTCTCTTTAGTGCCAGCCCTCAACTGTGGAGTGGGGGG... |
Task1_train_871 | This is a variant in MMACHC (metabolism of cobalamin associated C), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Cobalamin C disease | TTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATGATCAATAAAAGAAAAACAAACCCAAAAAAAAAAAAAAAAAAAAAGAAGGCAAGGTCTTGACTATCCCTTACTCAGTCTGCAGCTCCTGAGGAAGGCCATTGGTAGTACTGCATTCTCCTGGTCCTGTTTGCATCTGGGCTTGGGCTTGGGCTTGGGTTTGCTCCCACACCTGGCTCTGAAGGCCCTGCAGTTCCTTTCTCAGCTCCTCCAGGCATTGCTCCAGGAGAAAAGCA... | TTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATGATCAATAAAAGAAAAACAAACCCAAAAAAAAAAAAAAAAAAAAAGAAGGCAAGGTCTTGACTATCCCTTACTCAGTCTGCAGCTCCTGAGGAAGGCCATTGGTAGTACTGCATTCTCCTGGTCCTGTTTGCATCTGGGCTTGGGCTTGGGCTTGGGTTTGCTCCCACACCTGGCTCTGAAGGCCCTGCAGTTCCTTTCTCAGCTCCTCCAGGCATTGCTCCAGGAGAAAAGCA... |
Task1_train_872 | Given this variant in gene MMACHC (metabolism of cobalamin associated C) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Cobalamin C disease | GTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATGATCAATAAAAGAAAAACAAACCCAAAAAAAAAAAAAAAAAAAAAGAAGGCAAGGTCTTGACTATCCCTTACTCAGTCTGCAGCTCCTGAGGAAGGCCATTGGTAGTACTGCATTCTCCTGGTCCTGTTTGCATCTGGGCTTGGGCTTGGGCTTGGGTTTGCTCCCACACCTGGCTCTGAAGGCCCTGCAGTTCCTTTCTCAGCTCCTCCAGGCATTGCTCCAGGAGAAAAGCACT... | GTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATGATCAATAAAAGAAAAACAAACCCAAAAAAAAAAAAAAAAAAAAAGAAGGCAAGGTCTTGACTATCCCTTACTCAGTCTGCAGCTCCTGAGGAAGGCCATTGGTAGTACTGCATTCTCCTGGTCCTGTTTGCATCTGGGCTTGGGCTTGGGCTTGGGTTTGCTCCCACACCTGGCTCTGAAGGCCCTGCAGTTCCTTTCTCAGCTCCTCCAGGCATTGCTCCAGGAGAAAAGCACT... |
Task1_train_873 | This variant impacts the gene MMACHC (metabolism of cobalamin associated C) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Cobalamin C disease | CAAGAATGATCAATAAAAGAAAAACAAACCCAAAAAAAAAAAAAAAAAAAAAGAAGGCAAGGTCTTGACTATCCCTTACTCAGTCTGCAGCTCCTGAGGAAGGCCATTGGTAGTACTGCATTCTCCTGGTCCTGTTTGCATCTGGGCTTGGGCTTGGGCTTGGGTTTGCTCCCACACCTGGCTCTGAAGGCCCTGCAGTTCCTTTCTCAGCTCCTCCAGGCATTGCTCCAGGAGAAAAGCACTCCCCTTTGGGGCCCCCTGCAGCAACCTTAGTGATGCTGTAGTGGGACAAGTTAGGGATCATCCTCTCTAAGAGTTTC... | CAAGAATGATCAATAAAAGAAAAACAAACCCAAAAAAAAAAAAAAAAAAAAAGAAGGCAAGGTCTTGACTATCCCTTACTCAGTCTGCAGCTCCTGAGGAAGGCCATTGGTAGTACTGCATTCTCCTGGTCCTGTTTGCATCTGGGCTTGGGCTTGGGCTTGGGTTTGCTCCCACACCTGGCTCTGAAGGCCCTGCAGTTCCTTTCTCAGCTCCTCCAGGCATTGCTCCAGGAGAAAAGCACTCCCCTTTGGGGCCCCCTGCAGCAACCTTAGTGATGCTGTAGTGGGACAAGTTAGGGATCATCCTCTCTAAGAGTTTC... |
Task1_train_874 | The variant affects gene MMACHC (metabolism of cobalamin associated C), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not specified | ATTGCAATAAGCCGAGGCTGCGCCATTGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGA... | ATTGCAATAAGCCGAGGCTGCGCCATTGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGA... |
Task1_train_875 | Assess the clinical impact of this variant on gene MMACHC (metabolism of cobalamin associated C), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Cobalamin C disease | ATTGCAATAAGCCGAGGCTGCGCCATTGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGA... | ATTGCAATAAGCCGAGGCTGCGCCATTGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGA... |
Task1_train_876 | Given this variant in gene MMACHC (metabolism of cobalamin associated C) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Cobalamin C disease | CAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTG... | CAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTG... |
Task1_train_877 | Given this variant in gene MMACHC (metabolism of cobalamin associated C) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Cobalamin C disease | GTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGA... | GTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGA... |
Task1_train_878 | Gene MMACHC (metabolism of cobalamin associated C) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Cobalamin C disease | TGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAA... | TGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAA... |
Task1_train_879 | This variant affects gene MMACHC (metabolism of cobalamin associated C) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Cobalamin C disease | TCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGAT... | TCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGAT... |
Task1_train_880 | Here is a mutation in MMACHC (metabolism of cobalamin associated C) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Inborn genetic diseases | TCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGAT... | TCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGAT... |
Task1_train_881 | Gene MMACHC (metabolism of cobalamin associated C) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Cobalamin C disease | TCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATG... | TCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATG... |
Task1_train_882 | The gene LOC129930446, MMACHC (ATAC-STARR-seq lymphoblastoid active region 972| metabolism of cobalamin associated C) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Cobalamin C disease | TTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGG... | TTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGG... |
Task1_train_883 | A mutation in POMGNT1, TSPAN1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)| tetraspanin 1), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Retinitis pigmentosa 76 | CCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAA... | CCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAA... |
Task1_train_884 | Mutation context: Chromosome 1, Gene POMGNT1, TSPAN1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)| tetraspanin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | TTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTG... | TTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTG... |
Task1_train_885 | A sequence alteration has been identified in POMGNT1, TSPAN1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)| tetraspanin 1) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Retinitis pigmentosa 76 | GGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGT... | GGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGT... |
Task1_train_886 | A variant was discovered in gene POMGNT1, TSPAN1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)| tetraspanin 1), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Retinitis pigmentosa 76 | GTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGC... | GTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGC... |
Task1_train_887 | A change on Chromosome 1 affects gene POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2O | GCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCA... | GCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCA... |
Task1_train_888 | A genomic change on Chromosome 1 affects POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | GCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCA... | GCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCA... |
Task1_train_889 | This variant affects gene POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2O | TAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGA... | TAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGA... |
Task1_train_890 | Here is a variant affecting POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | TAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGA... | TAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGA... |
Task1_train_891 | Consider a variant on Chromosome 1 in gene RAD54L (RAD54 like). Determine its clinical classification and disease relevance. | Pathogenic; Colon adenocarcinoma | CCGCGCAACTACCTCCTCCCTTCACCCGGACTGGGACCATCATCCCCACTCCACTCCGCCCAGTCTGGGACTCCACCTGCCTCCTCCCCAATCCCACACTAATCTCTGCTTGGTCTCTTCCTCTTTGGCCTAATCTCTCGTCTCGGCTTATTGGGGACGGCCACTCTCACAGTTTGGTTCCAAACACCAGTTCCTGGATGGATTCCCGCCATCCATGCCCCCTCTTTAATTAGCCGGTCCTCTCAATAATGTAGCAGCCCCCTCTACAGATTAGACCCTGGTCCTACACTCTTAGCCGCTGCCTGCTTTTGACCTTTGGC... | CCGCGCAACTACCTCCTCCCTTCACCCGGACTGGGACCATCATCCCCACTCCACTCCGCCCAGTCTGGGACTCCACCTGCCTCCTCCCCAATCCCACACTAATCTCTGCTTGGTCTCTTCCTCTTTGGCCTAATCTCTCGTCTCGGCTTATTGGGGACGGCCACTCTCACAGTTTGGTTCCAAACACCAGTTCCTGGATGGATTCCCGCCATCCATGCCCCCTCTTTAATTAGCCGGTCCTCTCAATAATGTAGCAGCCCCCTCTACAGATTAGACCCTGGTCCTACACTCTTAGCCGCTGCCTGCTTTTGACCTTTGGC... |
Task1_train_892 | A genetic alteration is present in RAD54L (RAD54 like) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Breast ductal adenocarcinoma | GCAAACTCCTGACCTCAGGTGATCCACTTGCCTTAACCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCATGCCCCGTTGGTTTATTTAATCTTTAATAGCAACATTGGTCATTATTTCATTCTTTCATTCAACTAATATTCACTGAGCTTTGTCCTATACACTGAAATTATACAGGCGAATCTGACATAGTCTCTGCCTTAAGAAATCCTAGTCTCTGCCTAGTTGAGAAGATAAAGTACAGTAGAGTGTGATTAGTACTCTAGTATATATATTATGGATGAGGGCAGAGTGGTACAGTGTCCAGACTCAGAGTCA... | GCAAACTCCTGACCTCAGGTGATCCACTTGCCTTAACCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCATGCCCCGTTGGTTTATTTAATCTTTAATAGCAACATTGGTCATTATTTCATTCTTTCATTCAACTAATATTCACTGAGCTTTGTCCTATACACTGAAATTATACAGGCGAATCTGACATAGTCTCTGCCTTAAGAAATCCTAGTCTCTGCCTAGTTGAGAAGATAAAGTACAGTAGAGTGTGATTAGTACTCTAGTATATATATTATGGATGAGGGCAGAGTGGTACAGTGTCCAGACTCAGAGTCA... |
Task1_train_893 | The gene RAD54L (RAD54 like) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Non-Hodgkin lymphoma | GAGACGCTGCTGCTAGTGAGGCAGACAGGCAGCTAGGAGAGGAGCGGCTGCGGGAGCTCACCAGCATTGTGAATAGGTAATGACCTTAAGCGAAGTCATTAGAATTGCCTCCCAAACCATCCATGGCCAATCCTTTGGGGGCTTTGCCTCTCTAGAGCCCTCAAAGGCTGGGATTCTAGGAAGGGAGTGGGTTCTGTGTCCTAACTATGGCCACTGAATAAACAAGGGAGTCTTGGAGGTGAAGTGCCTGCTTTCTTTCTGGCTTGGGCTCTGTGGTCTGGTTTTGGTCTGTTTATCAGCCTGCTGAGGAAGCTTTTCTC... | GAGACGCTGCTGCTAGTGAGGCAGACAGGCAGCTAGGAGAGGAGCGGCTGCGGGAGCTCACCAGCATTGTGAATAGGTAATGACCTTAAGCGAAGTCATTAGAATTGCCTCCCAAACCATCCATGGCCAATCCTTTGGGGGCTTTGCCTCTCTAGAGCCCTCAAAGGCTGGGATTCTAGGAAGGGAGTGGGTTCTGTGTCCTAACTATGGCCACTGAATAAACAAGGGAGTCTTGGAGGTGAAGTGCCTGCTTTCTTTCTGGCTTGGGCTCTGTGGTCTGGTTTTGGTCTGTTTATCAGCCTGCTGAGGAAGCTTTTCTC... |
Task1_train_894 | The following genetic variant occurs in STIL (STIL centriolar assembly protein) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Microcephaly 7, primary, autosomal recessive | AGGCAATTCTCCTGCCTCAGCCTCCCAAGTACCTGGGACTACATGTGTGCACCACCGTGCCCAGTTACAGGTAAGAGTCACTGAGCCTAGCCTACGATCCTTATTTAATGGAAAATTTCATAATGAAAAATTTCAAACATGAGAGAATTATTTTACAAATCACCATATACAATCAGTTTCAAAAATTACCAAATAGCCAATCTTATTTCATTTATACTCCTAGCCATTTCATTCTCCCACAGAATTAATTTGAAGCAAATCTCAGATAACATTTCATATATAAATATTAAGGTTCTATCACTCAAAAATAGACTCTTTTA... | AGGCAATTCTCCTGCCTCAGCCTCCCAAGTACCTGGGACTACATGTGTGCACCACCGTGCCCAGTTACAGGTAAGAGTCACTGAGCCTAGCCTACGATCCTTATTTAATGGAAAATTTCATAATGAAAAATTTCAAACATGAGAGAATTATTTTACAAATCACCATATACAATCAGTTTCAAAAATTACCAAATAGCCAATCTTATTTCATTTATACTCCTAGCCATTTCATTCTCCCACAGAATTAATTTGAAGCAAATCTCAGATAACATTTCATATATAAATATTAAGGTTCTATCACTCAAAAATAGACTCTTTTA... |
Task1_train_895 | This sequence variant lies in STIL (STIL centriolar assembly protein) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Myoepithelial tumor | GTCTGGGCAATATAGGAAGACCTTTTCTCTAAAAAAAAAAGTAAAAATTTTAAAAAAAACTATACTTTACAATTTCAAAGAATTTACCTAGGTTTAAAAAAACAGCAGAGCTAAATTTTTCTCAGGTGTTCCTATCCAAAGCGTTTTCACTGATTTGAAAAATGTCATTGTCTTTTTTCTGATAAAATGCAAACACTATAACTCCAATTTTATAAAACAAAGATTTTTTAAAAAATCATATGTATGGCCGGGCGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGAGGATCACAAGGTCAGGAG... | GTCTGGGCAATATAGGAAGACCTTTTCTCTAAAAAAAAAAGTAAAAATTTTAAAAAAAACTATACTTTACAATTTCAAAGAATTTACCTAGGTTTAAAAAAACAGCAGAGCTAAATTTTTCTCAGGTGTTCCTATCCAAAGCGTTTTCACTGATTTGAAAAATGTCATTGTCTTTTTTCTGATAAAATGCAAACACTATAACTCCAATTTTATAAAACAAAGATTTTTTAAAAAATCATATGTATGGCCGGGCGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGAGGATCACAAGGTCAGGAG... |
Task1_train_896 | A genomic change on Chromosome 1 affects FOXE3, LINC01389 (forkhead box E3| long intergenic non-protein coding RNA 1389). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Cataract 34 multiple types | ATTATTTCTAATGTCTCAGCTCAGCCTTAAAGGATGGCATTCTTAGAAGAGTGGGGTGCTAGAGCTTTGAACTTCACATTTAATTCCAGCTCTACCACTTACTACTAGCTGTGTGAAGTCAGGGAAACCACTTAACCTCTCAGAACCTTAGTTTCCTCATTTGCAAAACAGGAATAATAACAGTACTCACTTCACGGGGTGCCCAAACTTAAGTGCAATAATGTACATAAAGTGTTTACCAAATACAAAATGCTCAGTAATGGTGGCTGTGATGTCATCAGCTGAGACTGGAGCTGAGAGAGGGGCCCTTGAGCTCCATG... | ATTATTTCTAATGTCTCAGCTCAGCCTTAAAGGATGGCATTCTTAGAAGAGTGGGGTGCTAGAGCTTTGAACTTCACATTTAATTCCAGCTCTACCACTTACTACTAGCTGTGTGAAGTCAGGGAAACCACTTAACCTCTCAGAACCTTAGTTTCCTCATTTGCAAAACAGGAATAATAACAGTACTCACTTCACGGGGTGCCCAAACTTAAGTGCAATAATGTACATAAAGTGTTTACCAAATACAAAATGCTCAGTAATGGTGGCTGTGATGTCATCAGCTGAGACTGGAGCTGAGAGAGGGGCCCTTGAGCTCCATG... |
Task1_train_897 | This variant affects gene ORC1 (origin recognition complex subunit 1) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Meier-Gorlin syndrome 1 | GATATTTTTACACGACTTTCTAAATTTCTCTCCAACCTCAGAGCACCAGCATAGGGCCTCATACCCAGCAGGTACTCAGCAAAGATGTGCTGACTGATTTATGGGTGCAGCTGGTGACTTACCTTCCTGGCTACCAGCTGGATGGCATCATCTTCAAAGGCCTTTAGATGCTTGAGCCGGGACCTTAGGATCTGCTGCAGCTGGCTATATGTATAGGGCTGGAAGCACATCCTGGTAAGACCCTGGGGAGCCAAAATGACAGAGGAATAAGTTGGTTGACTGCCCAGTGATTATCCAGGTGGAAAGTCACCCTTGGGCCC... | GATATTTTTACACGACTTTCTAAATTTCTCTCCAACCTCAGAGCACCAGCATAGGGCCTCATACCCAGCAGGTACTCAGCAAAGATGTGCTGACTGATTTATGGGTGCAGCTGGTGACTTACCTTCCTGGCTACCAGCTGGATGGCATCATCTTCAAAGGCCTTTAGATGCTTGAGCCGGGACCTTAGGATCTGCTGCAGCTGGCTATATGTATAGGGCTGGAAGCACATCCTGGTAAGACCCTGGGGAGCCAAAATGACAGAGGAATAAGTTGGTTGACTGCCCAGTGATTATCCAGGTGGAAAGTCACCCTTGGGCCC... |
Task1_train_898 | A variant has been detected on Chromosome 1 in ORC1 (origin recognition complex subunit 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Meier-Gorlin syndrome 1 | AAATAAAATTAGCCAGGCATAGTGGTACACACTTGTAGTCCCAGCTACTTGGGAGACTGAGGAAGGAGGATCATTTGAGCCCAAGAGGTCAAGCCTACAATAAGTCGTGATTGTGCCATTGCATTCCAACCTGGGTGACACAGCAAGACTCTGTCTCAAAAAACAAAAACAAAAAAACCCAGAAAATGGAGCCAAGTGCAGTGATGTACCCTTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAGGATTGCTTGAGCATGATCACTTGAGTTCCAGGCTATAGTGCACTGTGATCACTAACTCAATACTTTCCCATAA... | AAATAAAATTAGCCAGGCATAGTGGTACACACTTGTAGTCCCAGCTACTTGGGAGACTGAGGAAGGAGGATCATTTGAGCCCAAGAGGTCAAGCCTACAATAAGTCGTGATTGTGCCATTGCATTCCAACCTGGGTGACACAGCAAGACTCTGTCTCAAAAAACAAAAACAAAAAAACCCAGAAAATGGAGCCAAGTGCAGTGATGTACCCTTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAGGATTGCTTGAGCATGATCACTTGAGTTCCAGGCTATAGTGCACTGTGATCACTAACTCAATACTTTCCCATAA... |
Task1_train_899 | Here is a genetic alteration in ORC1 (origin recognition complex subunit 1) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Meier-Gorlin syndrome 1 | CTCTGCTAAAAATACAAAAAATTGTCCAGGTGCGGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGCTCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAAGAGAATGGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGACTGGGCGACACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAA... | CTCTGCTAAAAATACAAAAAATTGTCCAGGTGCGGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGCTCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAAGAGAATGGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGACTGGGCGACACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAA... |
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