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_11700 | Assess the clinical impact of this variant on gene COL1A2 (collagen type I alpha 2 chain), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | TGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACATTTCCATAACCTTTATTACTGGAGTACCCTCCTTCTGAGAGTGGCTT... | TGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACATTTCCATAACCTTTATTACTGGAGTACCCTCCTTCTGAGAGTGGCTT... |
Task1_train_11701 | The gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | ATCAATAAAATACATAGTGTGCCCATTTCACATTGAACTCTCCACTTAAAATAGATCTTATTTATTGTATTGCAAAGATTGCCACAAATAGATCAGCCCCGTGTCCATCTAAAAATTAAAATGTCCTCCTCCTGGTATTGTAGGCACTGATTTATAGTGTTTTCTCAAGTGTATAACCCATACTACTTAACCCCCAAAATGAATATAGCATTAAGTAAAAATCCACTTCATTTTACTCTGTGAGATGTGCGTCAGTTATCTCTTCCAAGGCAACTACAGACTCTGTCTGTCCACCACTGTTCTCTCTCCCTCCCAGTTCT... | ATCAATAAAATACATAGTGTGCCCATTTCACATTGAACTCTCCACTTAAAATAGATCTTATTTATTGTATTGCAAAGATTGCCACAAATAGATCAGCCCCGTGTCCATCTAAAAATTAAAATGTCCTCCTCCTGGTATTGTAGGCACTGATTTATAGTGTTTTCTCAAGTGTATAACCCATACTACTTAACCCCCAAAATGAATATAGCATTAAGTAAAAATCCACTTCATTTTACTCTGTGAGATGTGCGTCAGTTATCTCTTCCAAGGCAACTACAGACTCTGTCTGTCCACCACTGTTCTCTCTCCCTCCCAGTTCT... |
Task1_train_11702 | The gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Osteogenesis imperfecta type I | ATCAATAAAATACATAGTGTGCCCATTTCACATTGAACTCTCCACTTAAAATAGATCTTATTTATTGTATTGCAAAGATTGCCACAAATAGATCAGCCCCGTGTCCATCTAAAAATTAAAATGTCCTCCTCCTGGTATTGTAGGCACTGATTTATAGTGTTTTCTCAAGTGTATAACCCATACTACTTAACCCCCAAAATGAATATAGCATTAAGTAAAAATCCACTTCATTTTACTCTGTGAGATGTGCGTCAGTTATCTCTTCCAAGGCAACTACAGACTCTGTCTGTCCACCACTGTTCTCTCTCCCTCCCAGTTCT... | ATCAATAAAATACATAGTGTGCCCATTTCACATTGAACTCTCCACTTAAAATAGATCTTATTTATTGTATTGCAAAGATTGCCACAAATAGATCAGCCCCGTGTCCATCTAAAAATTAAAATGTCCTCCTCCTGGTATTGTAGGCACTGATTTATAGTGTTTTCTCAAGTGTATAACCCATACTACTTAACCCCCAAAATGAATATAGCATTAAGTAAAAATCCACTTCATTTTACTCTGTGAGATGTGCGTCAGTTATCTCTTCCAAGGCAACTACAGACTCTGTCTGTCCACCACTGTTCTCTCTCCCTCCCAGTTCT... |
Task1_train_11703 | This genomic variant is located on Chromosome 7, within the COL1A2 (collagen type I alpha 2 chain) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Osteogenesis imperfecta type I | TCACATTGAACTCTCCACTTAAAATAGATCTTATTTATTGTATTGCAAAGATTGCCACAAATAGATCAGCCCCGTGTCCATCTAAAAATTAAAATGTCCTCCTCCTGGTATTGTAGGCACTGATTTATAGTGTTTTCTCAAGTGTATAACCCATACTACTTAACCCCCAAAATGAATATAGCATTAAGTAAAAATCCACTTCATTTTACTCTGTGAGATGTGCGTCAGTTATCTCTTCCAAGGCAACTACAGACTCTGTCTGTCCACCACTGTTCTCTCTCCCTCCCAGTTCTTTGAGCATCTATGTCAGGCACATTAAC... | TCACATTGAACTCTCCACTTAAAATAGATCTTATTTATTGTATTGCAAAGATTGCCACAAATAGATCAGCCCCGTGTCCATCTAAAAATTAAAATGTCCTCCTCCTGGTATTGTAGGCACTGATTTATAGTGTTTTCTCAAGTGTATAACCCATACTACTTAACCCCCAAAATGAATATAGCATTAAGTAAAAATCCACTTCATTTTACTCTGTGAGATGTGCGTCAGTTATCTCTTCCAAGGCAACTACAGACTCTGTCTGTCCACCACTGTTCTCTCTCCCTCCCAGTTCTTTGAGCATCTATGTCAGGCACATTAAC... |
Task1_train_11704 | A mutation found in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TCACATTGAACTCTCCACTTAAAATAGATCTTATTTATTGTATTGCAAAGATTGCCACAAATAGATCAGCCCCGTGTCCATCTAAAAATTAAAATGTCCTCCTCCTGGTATTGTAGGCACTGATTTATAGTGTTTTCTCAAGTGTATAACCCATACTACTTAACCCCCAAAATGAATATAGCATTAAGTAAAAATCCACTTCATTTTACTCTGTGAGATGTGCGTCAGTTATCTCTTCCAAGGCAACTACAGACTCTGTCTGTCCACCACTGTTCTCTCTCCCTCCCAGTTCTTTGAGCATCTATGTCAGGCACATTAAC... | TCACATTGAACTCTCCACTTAAAATAGATCTTATTTATTGTATTGCAAAGATTGCCACAAATAGATCAGCCCCGTGTCCATCTAAAAATTAAAATGTCCTCCTCCTGGTATTGTAGGCACTGATTTATAGTGTTTTCTCAAGTGTATAACCCATACTACTTAACCCCCAAAATGAATATAGCATTAAGTAAAAATCCACTTCATTTTACTCTGTGAGATGTGCGTCAGTTATCTCTTCCAAGGCAACTACAGACTCTGTCTGTCCACCACTGTTCTCTCTCCCTCCCAGTTCTTTGAGCATCTATGTCAGGCACATTAAC... |
Task1_train_11705 | A variant was discovered on Chromosome 7, affecting COL1A2 (collagen type I alpha 2 chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Osteogenesis imperfecta | ACTCTCCACTTAAAATAGATCTTATTTATTGTATTGCAAAGATTGCCACAAATAGATCAGCCCCGTGTCCATCTAAAAATTAAAATGTCCTCCTCCTGGTATTGTAGGCACTGATTTATAGTGTTTTCTCAAGTGTATAACCCATACTACTTAACCCCCAAAATGAATATAGCATTAAGTAAAAATCCACTTCATTTTACTCTGTGAGATGTGCGTCAGTTATCTCTTCCAAGGCAACTACAGACTCTGTCTGTCCACCACTGTTCTCTCTCCCTCCCAGTTCTTTGAGCATCTATGTCAGGCACATTAACAGATTCATC... | ACTCTCCACTTAAAATAGATCTTATTTATTGTATTGCAAAGATTGCCACAAATAGATCAGCCCCGTGTCCATCTAAAAATTAAAATGTCCTCCTCCTGGTATTGTAGGCACTGATTTATAGTGTTTTCTCAAGTGTATAACCCATACTACTTAACCCCCAAAATGAATATAGCATTAAGTAAAAATCCACTTCATTTTACTCTGTGAGATGTGCGTCAGTTATCTCTTCCAAGGCAACTACAGACTCTGTCTGTCCACCACTGTTCTCTCTCCCTCCCAGTTCTTTGAGCATCTATGTCAGGCACATTAACAGATTCATC... |
Task1_train_11706 | Given a variant located on Chromosome 7 and affecting COL1A2 (collagen type I alpha 2 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | TTTTCTTCTAAGAGATGCGGGAATGATCCACTTGAAGAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAG... | TTTTCTTCTAAGAGATGCGGGAATGATCCACTTGAAGAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAG... |
Task1_train_11707 | This gene mutation involves COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | TTTTCTTCTAAGAGATGCGGGAATGATCCACTTGAAGAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAG... | TTTTCTTCTAAGAGATGCGGGAATGATCCACTTGAAGAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAG... |
Task1_train_11708 | The gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Osteogenesis imperfecta type I | TAAGAGATGCGGGAATGATCCACTTGAAGAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACT... | TAAGAGATGCGGGAATGATCCACTTGAAGAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACT... |
Task1_train_11709 | This mutation is located in gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TAAGAGATGCGGGAATGATCCACTTGAAGAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACT... | TAAGAGATGCGGGAATGATCCACTTGAAGAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACT... |
Task1_train_11710 | A variant was discovered on Chromosome 7, affecting COL1A2 (collagen type I alpha 2 chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Osteogenesis imperfecta, perinatal lethal | AAGAGATGCGGGAATGATCCACTTGAAGAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTC... | AAGAGATGCGGGAATGATCCACTTGAAGAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTC... |
Task1_train_11711 | A variant affecting Chromosome 7, within the gene COL1A2 (collagen type I alpha 2 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Osteogenesis imperfecta type I | CGGGAATGATCCACTTGAAGAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTCAGTGTATG... | CGGGAATGATCCACTTGAAGAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTCAGTGTATG... |
Task1_train_11712 | The gene COL1A2 (collagen type I alpha 2 chain) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | CGGGAATGATCCACTTGAAGAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTCAGTGTATG... | CGGGAATGATCCACTTGAAGAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTCAGTGTATG... |
Task1_train_11713 | Consider a variant on Chromosome 7 in gene COL1A2 (collagen type I alpha 2 chain). Determine its clinical classification and disease relevance. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TCCACTTGAAGAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTCAGTGTATGTTGCTATCA... | TCCACTTGAAGAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTCAGTGTATGTTGCTATCA... |
Task1_train_11714 | This alteration in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Osteogenesis imperfecta type I | TCCACTTGAAGAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTCAGTGTATGTTGCTATCA... | TCCACTTGAAGAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTCAGTGTATGTTGCTATCA... |
Task1_train_11715 | This mutation is located in gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | AGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTCAGTGTATGTTGCTATCAGCTCACTTGAGGTAATAAC... | AGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTCAGTGTATGTTGCTATCAGCTCACTTGAGGTAATAAC... |
Task1_train_11716 | A change on Chromosome 7 affects gene COL1A2 (collagen type I alpha 2 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | CTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTCAGTGTATGTTGCTATCAGCTCACTTGAGGTAATAACCAAGGTGGGCCCTAGGCAGTTTAATTGTAAAGTCGG... | CTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTCAGTGTATGTTGCTATCAGCTCACTTGAGGTAATAACCAAGGTGGGCCCTAGGCAGTTTAATTGTAAAGTCGG... |
Task1_train_11717 | The variant affects gene COL1A2 (collagen type I alpha 2 chain), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | GGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTCAGTGTATGTTGCTATCAGCTCACTTGAGGTAATAACCAAGGTGGGCCCTAGGCAGTTTAATTGTAAAGTCGGAAAAAATATTCCTTTTG... | GGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTCAGTGTATGTTGCTATCAGCTCACTTGAGGTAATAACCAAGGTGGGCCCTAGGCAGTTTAATTGTAAAGTCGGAAAAAATATTCCTTTTG... |
Task1_train_11718 | This variant lies on Chromosome 7 and affects the gene COL1A2 (collagen type I alpha 2 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | CGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTCAGTGTATGTTGCTATCAGCTCACTTGAGGTAATAACCAAGGTGGGCCCTAGGCAGTTTAATTGTAAAGTCGGAAAAAATATTCCTTTTGGCGTTTATTAATATGCCC... | CGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTCAGTGTATGTTGCTATCAGCTCACTTGAGGTAATAACCAAGGTGGGCCCTAGGCAGTTTAATTGTAAAGTCGGAAAAAATATTCCTTTTGGCGTTTATTAATATGCCC... |
Task1_train_11719 | A variant has been detected on Chromosome 7 in COL1A2 (collagen type I alpha 2 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Osteogenesis imperfecta type I | CGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTCAGTGTATGTTGCTATCAGCTCACTTGAGGTAATAACCAAGGTGGGCCCTAGGCAGTTTAATTGTAAAGTCGGAAAAAATATTCCTTTTGGCGTTTATTAATATGCCC... | CGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTCAGTGTATGTTGCTATCAGCTCACTTGAGGTAATAACCAAGGTGGGCCCTAGGCAGTTTAATTGTAAAGTCGGAAAAAATATTCCTTTTGGCGTTTATTAATATGCCC... |
Task1_train_11720 | Gene COL1A2 (collagen type I alpha 2 chain), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTCAGTGTATGTTGCTATCAGCTCACTTGAGGTAATAACCAAGGTGGGCCCTAGGCAGTTTAATTGTAAAGTCGGAAAAAATATTCCTTTTGGCGTTTATTAATATGCCCCTTCTTCTGCCTGACCAT... | TGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTCAGTGTATGTTGCTATCAGCTCACTTGAGGTAATAACCAAGGTGGGCCCTAGGCAGTTTAATTGTAAAGTCGGAAAAAATATTCCTTTTGGCGTTTATTAATATGCCCCTTCTTCTGCCTGACCAT... |
Task1_train_11721 | A mutation found in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Osteogenesis imperfecta type I | TGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTCAGTGTATGTTGCTATCAGCTCACTTGAGGTAATAACCAAGGTGGGCCCTAGGCAGTTTAATTGTAAAGTCGGAAAAAATATTCCTTTTGGCGTTTATTAATATGCCCCTTCTTCTGCCTGACCAT... | TGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTCAGTGTATGTTGCTATCAGCTCACTTGAGGTAATAACCAAGGTGGGCCCTAGGCAGTTTAATTGTAAAGTCGGAAAAAATATTCCTTTTGGCGTTTATTAATATGCCCCTTCTTCTGCCTGACCAT... |
Task1_train_11722 | The gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Multiple prenatal fractures | GGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTCAGTGTATGTTGCTATCAGCTCACTTGAGGTAATAACCAAGGTGGGCCCTAGGCAGTTTAATTGTAAAGTCGGAAAAAATATTCCTTTTGGCGTTTATTAATATGCCCCTTCTTCTGCCTGACCATGTCCTTCTCC... | GGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTCAGTGTATGTTGCTATCAGCTCACTTGAGGTAATAACCAAGGTGGGCCCTAGGCAGTTTAATTGTAAAGTCGGAAAAAATATTCCTTTTGGCGTTTATTAATATGCCCCTTCTTCTGCCTGACCATGTCCTTCTCC... |
Task1_train_11723 | The gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Skeletal dysplasia | GGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTCAGTGTATGTTGCTATCAGCTCACTTGAGGTAATAACCAAGGTGGGCCCTAGGCAGTTTAATTGTAAAGTCGGAAAAAATATTCCTTTTGGCGTTTATTAATATGCCCCTTCTTCTGCCTGACCATGTCCTTCTCC... | GGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTCAGTGTATGTTGCTATCAGCTCACTTGAGGTAATAACCAAGGTGGGCCCTAGGCAGTTTAATTGTAAAGTCGGAAAAAATATTCCTTTTGGCGTTTATTAATATGCCCCTTCTTCTGCCTGACCATGTCCTTCTCC... |
Task1_train_11724 | A mutation on Chromosome 7 affecting COL1A2 (collagen type I alpha 2 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | TTAAGGTATAATTGTTCCTGAATTTAAAGGTGGTTTGGCCTCTAATTTAATTCTGATTCAGACTCTCCTGTCAGGACTCAAGAAAATTTAATTAATTACCAAGGATTAAGTCTTCTGGTTAAGGTTTCTGGGAAAAAAAAATAGCAAAGATGTTGATTTCTTGGAATCCTTTTACAGGTTCATAACAGAAAAATCTTCATTCCCTGTAGGCATTTAATTAAACCTAGTTGAGAAGTGTGTGGGATTCCTCAATTATGAACAAAACACGTATATTGGCTTTCTTTAAAAAAAAAAAAAAAGAAGAAAAAAGAAAAGGCAAA... | TTAAGGTATAATTGTTCCTGAATTTAAAGGTGGTTTGGCCTCTAATTTAATTCTGATTCAGACTCTCCTGTCAGGACTCAAGAAAATTTAATTAATTACCAAGGATTAAGTCTTCTGGTTAAGGTTTCTGGGAAAAAAAAATAGCAAAGATGTTGATTTCTTGGAATCCTTTTACAGGTTCATAACAGAAAAATCTTCATTCCCTGTAGGCATTTAATTAAACCTAGTTGAGAAGTGTGTGGGATTCCTCAATTATGAACAAAACACGTATATTGGCTTTCTTTAAAAAAAAAAAAAAAGAAGAAAAAAGAAAAGGCAAA... |
Task1_train_11725 | Gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Osteogenesis imperfecta | TAATTGTTCCTGAATTTAAAGGTGGTTTGGCCTCTAATTTAATTCTGATTCAGACTCTCCTGTCAGGACTCAAGAAAATTTAATTAATTACCAAGGATTAAGTCTTCTGGTTAAGGTTTCTGGGAAAAAAAAATAGCAAAGATGTTGATTTCTTGGAATCCTTTTACAGGTTCATAACAGAAAAATCTTCATTCCCTGTAGGCATTTAATTAAACCTAGTTGAGAAGTGTGTGGGATTCCTCAATTATGAACAAAACACGTATATTGGCTTTCTTTAAAAAAAAAAAAAAAGAAGAAAAAAGAAAAGGCAAAGTCCTTCG... | TAATTGTTCCTGAATTTAAAGGTGGTTTGGCCTCTAATTTAATTCTGATTCAGACTCTCCTGTCAGGACTCAAGAAAATTTAATTAATTACCAAGGATTAAGTCTTCTGGTTAAGGTTTCTGGGAAAAAAAAATAGCAAAGATGTTGATTTCTTGGAATCCTTTTACAGGTTCATAACAGAAAAATCTTCATTCCCTGTAGGCATTTAATTAAACCTAGTTGAGAAGTGTGTGGGATTCCTCAATTATGAACAAAACACGTATATTGGCTTTCTTTAAAAAAAAAAAAAAAGAAGAAAAAAGAAAAGGCAAAGTCCTTCG... |
Task1_train_11726 | This genomic variant is located on Chromosome 7, within the COL1A2 (collagen type I alpha 2 chain) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TAATTGTTCCTGAATTTAAAGGTGGTTTGGCCTCTAATTTAATTCTGATTCAGACTCTCCTGTCAGGACTCAAGAAAATTTAATTAATTACCAAGGATTAAGTCTTCTGGTTAAGGTTTCTGGGAAAAAAAAATAGCAAAGATGTTGATTTCTTGGAATCCTTTTACAGGTTCATAACAGAAAAATCTTCATTCCCTGTAGGCATTTAATTAAACCTAGTTGAGAAGTGTGTGGGATTCCTCAATTATGAACAAAACACGTATATTGGCTTTCTTTAAAAAAAAAAAAAAAGAAGAAAAAAGAAAAGGCAAAGTCCTTCG... | TAATTGTTCCTGAATTTAAAGGTGGTTTGGCCTCTAATTTAATTCTGATTCAGACTCTCCTGTCAGGACTCAAGAAAATTTAATTAATTACCAAGGATTAAGTCTTCTGGTTAAGGTTTCTGGGAAAAAAAAATAGCAAAGATGTTGATTTCTTGGAATCCTTTTACAGGTTCATAACAGAAAAATCTTCATTCCCTGTAGGCATTTAATTAAACCTAGTTGAGAAGTGTGTGGGATTCCTCAATTATGAACAAAACACGTATATTGGCTTTCTTTAAAAAAAAAAAAAAAGAAGAAAAAAGAAAAGGCAAAGTCCTTCG... |
Task1_train_11727 | Gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Osteogenesis imperfecta type I | TAATTGTTCCTGAATTTAAAGGTGGTTTGGCCTCTAATTTAATTCTGATTCAGACTCTCCTGTCAGGACTCAAGAAAATTTAATTAATTACCAAGGATTAAGTCTTCTGGTTAAGGTTTCTGGGAAAAAAAAATAGCAAAGATGTTGATTTCTTGGAATCCTTTTACAGGTTCATAACAGAAAAATCTTCATTCCCTGTAGGCATTTAATTAAACCTAGTTGAGAAGTGTGTGGGATTCCTCAATTATGAACAAAACACGTATATTGGCTTTCTTTAAAAAAAAAAAAAAAGAAGAAAAAAGAAAAGGCAAAGTCCTTCG... | TAATTGTTCCTGAATTTAAAGGTGGTTTGGCCTCTAATTTAATTCTGATTCAGACTCTCCTGTCAGGACTCAAGAAAATTTAATTAATTACCAAGGATTAAGTCTTCTGGTTAAGGTTTCTGGGAAAAAAAAATAGCAAAGATGTTGATTTCTTGGAATCCTTTTACAGGTTCATAACAGAAAAATCTTCATTCCCTGTAGGCATTTAATTAAACCTAGTTGAGAAGTGTGTGGGATTCCTCAATTATGAACAAAACACGTATATTGGCTTTCTTTAAAAAAAAAAAAAAAGAAGAAAAAAGAAAAGGCAAAGTCCTTCG... |
Task1_train_11728 | This alteration occurs within gene COL1A2 (collagen type I alpha 2 chain) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Osteogenesis imperfecta type I | AATTGTTCCTGAATTTAAAGGTGGTTTGGCCTCTAATTTAATTCTGATTCAGACTCTCCTGTCAGGACTCAAGAAAATTTAATTAATTACCAAGGATTAAGTCTTCTGGTTAAGGTTTCTGGGAAAAAAAAATAGCAAAGATGTTGATTTCTTGGAATCCTTTTACAGGTTCATAACAGAAAAATCTTCATTCCCTGTAGGCATTTAATTAAACCTAGTTGAGAAGTGTGTGGGATTCCTCAATTATGAACAAAACACGTATATTGGCTTTCTTTAAAAAAAAAAAAAAAGAAGAAAAAAGAAAAGGCAAAGTCCTTCGA... | AATTGTTCCTGAATTTAAAGGTGGTTTGGCCTCTAATTTAATTCTGATTCAGACTCTCCTGTCAGGACTCAAGAAAATTTAATTAATTACCAAGGATTAAGTCTTCTGGTTAAGGTTTCTGGGAAAAAAAAATAGCAAAGATGTTGATTTCTTGGAATCCTTTTACAGGTTCATAACAGAAAAATCTTCATTCCCTGTAGGCATTTAATTAAACCTAGTTGAGAAGTGTGTGGGATTCCTCAATTATGAACAAAACACGTATATTGGCTTTCTTTAAAAAAAAAAAAAAAGAAGAAAAAAGAAAAGGCAAAGTCCTTCGA... |
Task1_train_11729 | This variant affects the gene COL1A2 (collagen type I alpha 2 chain) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | AATTGTTCCTGAATTTAAAGGTGGTTTGGCCTCTAATTTAATTCTGATTCAGACTCTCCTGTCAGGACTCAAGAAAATTTAATTAATTACCAAGGATTAAGTCTTCTGGTTAAGGTTTCTGGGAAAAAAAAATAGCAAAGATGTTGATTTCTTGGAATCCTTTTACAGGTTCATAACAGAAAAATCTTCATTCCCTGTAGGCATTTAATTAAACCTAGTTGAGAAGTGTGTGGGATTCCTCAATTATGAACAAAACACGTATATTGGCTTTCTTTAAAAAAAAAAAAAAAGAAGAAAAAAGAAAAGGCAAAGTCCTTCGA... | AATTGTTCCTGAATTTAAAGGTGGTTTGGCCTCTAATTTAATTCTGATTCAGACTCTCCTGTCAGGACTCAAGAAAATTTAATTAATTACCAAGGATTAAGTCTTCTGGTTAAGGTTTCTGGGAAAAAAAAATAGCAAAGATGTTGATTTCTTGGAATCCTTTTACAGGTTCATAACAGAAAAATCTTCATTCCCTGTAGGCATTTAATTAAACCTAGTTGAGAAGTGTGTGGGATTCCTCAATTATGAACAAAACACGTATATTGGCTTTCTTTAAAAAAAAAAAAAAAGAAGAAAAAAGAAAAGGCAAAGTCCTTCGA... |
Task1_train_11730 | This gene mutation involves COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it associated with any clinical condition, or is it benign? | Pathogenic; Osteogenesis imperfecta, perinatal lethal | AAGGTGGTTTGGCCTCTAATTTAATTCTGATTCAGACTCTCCTGTCAGGACTCAAGAAAATTTAATTAATTACCAAGGATTAAGTCTTCTGGTTAAGGTTTCTGGGAAAAAAAAATAGCAAAGATGTTGATTTCTTGGAATCCTTTTACAGGTTCATAACAGAAAAATCTTCATTCCCTGTAGGCATTTAATTAAACCTAGTTGAGAAGTGTGTGGGATTCCTCAATTATGAACAAAACACGTATATTGGCTTTCTTTAAAAAAAAAAAAAAAGAAGAAAAAAGAAAAGGCAAAGTCCTTCGAAACTCAGAGTCCCATTC... | AAGGTGGTTTGGCCTCTAATTTAATTCTGATTCAGACTCTCCTGTCAGGACTCAAGAAAATTTAATTAATTACCAAGGATTAAGTCTTCTGGTTAAGGTTTCTGGGAAAAAAAAATAGCAAAGATGTTGATTTCTTGGAATCCTTTTACAGGTTCATAACAGAAAAATCTTCATTCCCTGTAGGCATTTAATTAAACCTAGTTGAGAAGTGTGTGGGATTCCTCAATTATGAACAAAACACGTATATTGGCTTTCTTTAAAAAAAAAAAAAAAGAAGAAAAAAGAAAAGGCAAAGTCCTTCGAAACTCAGAGTCCCATTC... |
Task1_train_11731 | This is a variant in COL1A2 (collagen type I alpha 2 chain), located on Chromosome 7. Is this mutation a likely cause of disease or not? | Pathogenic; Osteogenesis imperfecta type I | GGCCTCTAATTTAATTCTGATTCAGACTCTCCTGTCAGGACTCAAGAAAATTTAATTAATTACCAAGGATTAAGTCTTCTGGTTAAGGTTTCTGGGAAAAAAAAATAGCAAAGATGTTGATTTCTTGGAATCCTTTTACAGGTTCATAACAGAAAAATCTTCATTCCCTGTAGGCATTTAATTAAACCTAGTTGAGAAGTGTGTGGGATTCCTCAATTATGAACAAAACACGTATATTGGCTTTCTTTAAAAAAAAAAAAAAAGAAGAAAAAAGAAAAGGCAAAGTCCTTCGAAACTCAGAGTCCCATTCATTTATCATT... | GGCCTCTAATTTAATTCTGATTCAGACTCTCCTGTCAGGACTCAAGAAAATTTAATTAATTACCAAGGATTAAGTCTTCTGGTTAAGGTTTCTGGGAAAAAAAAATAGCAAAGATGTTGATTTCTTGGAATCCTTTTACAGGTTCATAACAGAAAAATCTTCATTCCCTGTAGGCATTTAATTAAACCTAGTTGAGAAGTGTGTGGGATTCCTCAATTATGAACAAAACACGTATATTGGCTTTCTTTAAAAAAAAAAAAAAAGAAGAAAAAAGAAAAGGCAAAGTCCTTCGAAACTCAGAGTCCCATTCATTTATCATT... |
Task1_train_11732 | Given this variant in gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | GGCCTCTAATTTAATTCTGATTCAGACTCTCCTGTCAGGACTCAAGAAAATTTAATTAATTACCAAGGATTAAGTCTTCTGGTTAAGGTTTCTGGGAAAAAAAAATAGCAAAGATGTTGATTTCTTGGAATCCTTTTACAGGTTCATAACAGAAAAATCTTCATTCCCTGTAGGCATTTAATTAAACCTAGTTGAGAAGTGTGTGGGATTCCTCAATTATGAACAAAACACGTATATTGGCTTTCTTTAAAAAAAAAAAAAAAGAAGAAAAAAGAAAAGGCAAAGTCCTTCGAAACTCAGAGTCCCATTCATTTATCATT... | GGCCTCTAATTTAATTCTGATTCAGACTCTCCTGTCAGGACTCAAGAAAATTTAATTAATTACCAAGGATTAAGTCTTCTGGTTAAGGTTTCTGGGAAAAAAAAATAGCAAAGATGTTGATTTCTTGGAATCCTTTTACAGGTTCATAACAGAAAAATCTTCATTCCCTGTAGGCATTTAATTAAACCTAGTTGAGAAGTGTGTGGGATTCCTCAATTATGAACAAAACACGTATATTGGCTTTCTTTAAAAAAAAAAAAAAAGAAGAAAAAAGAAAAGGCAAAGTCCTTCGAAACTCAGAGTCCCATTCATTTATCATT... |
Task1_train_11733 | A genomic change on Chromosome 7 affects COL1A2 (collagen type I alpha 2 chain). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | CCCTGGCTTCGCTGGTGAGAAGGGTCCCTCTGGAGAGGCTGGTACTGCTGTAAGTGATTTCCAACTCCTCTTTCTTAATACCTTATGCTGAATTAAAATAAAGCCCCTACACAAATCTTCAAGTGGCATCTATTTGTTGATGAGTATTGCAGGCTCTCAAGTAGAGCTCAGTTGAGCCAGGAAATCTGTCCAGCACACACTGAGGGGCTGTGGCTTCCAAGATGCTCAGAAAGCACAAAATCGGGAAGACAATAAATGAGGGAACTCAGTTTTATCACAAAGCCCTTAAAGCTATTGAAGGCACCTTACTGGTACCAGGA... | CCCTGGCTTCGCTGGTGAGAAGGGTCCCTCTGGAGAGGCTGGTACTGCTGTAAGTGATTTCCAACTCCTCTTTCTTAATACCTTATGCTGAATTAAAATAAAGCCCCTACACAAATCTTCAAGTGGCATCTATTTGTTGATGAGTATTGCAGGCTCTCAAGTAGAGCTCAGTTGAGCCAGGAAATCTGTCCAGCACACACTGAGGGGCTGTGGCTTCCAAGATGCTCAGAAAGCACAAAATCGGGAAGACAATAAATGAGGGAACTCAGTTTTATCACAAAGCCCTTAAAGCTATTGAAGGCACCTTACTGGTACCAGGA... |
Task1_train_11734 | A mutation in COL1A2 (collagen type I alpha 2 chain), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Osteogenesis imperfecta type I | CCCTGGCTTCGCTGGTGAGAAGGGTCCCTCTGGAGAGGCTGGTACTGCTGTAAGTGATTTCCAACTCCTCTTTCTTAATACCTTATGCTGAATTAAAATAAAGCCCCTACACAAATCTTCAAGTGGCATCTATTTGTTGATGAGTATTGCAGGCTCTCAAGTAGAGCTCAGTTGAGCCAGGAAATCTGTCCAGCACACACTGAGGGGCTGTGGCTTCCAAGATGCTCAGAAAGCACAAAATCGGGAAGACAATAAATGAGGGAACTCAGTTTTATCACAAAGCCCTTAAAGCTATTGAAGGCACCTTACTGGTACCAGGA... | CCCTGGCTTCGCTGGTGAGAAGGGTCCCTCTGGAGAGGCTGGTACTGCTGTAAGTGATTTCCAACTCCTCTTTCTTAATACCTTATGCTGAATTAAAATAAAGCCCCTACACAAATCTTCAAGTGGCATCTATTTGTTGATGAGTATTGCAGGCTCTCAAGTAGAGCTCAGTTGAGCCAGGAAATCTGTCCAGCACACACTGAGGGGCTGTGGCTTCCAAGATGCTCAGAAAGCACAAAATCGGGAAGACAATAAATGAGGGAACTCAGTTTTATCACAAAGCCCTTAAAGCTATTGAAGGCACCTTACTGGTACCAGGA... |
Task1_train_11735 | With a mutation on Chromosome 7 in gene COL1A2 (collagen type I alpha 2 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Osteogenesis imperfecta | CGCTGGTGAGAAGGGTCCCTCTGGAGAGGCTGGTACTGCTGTAAGTGATTTCCAACTCCTCTTTCTTAATACCTTATGCTGAATTAAAATAAAGCCCCTACACAAATCTTCAAGTGGCATCTATTTGTTGATGAGTATTGCAGGCTCTCAAGTAGAGCTCAGTTGAGCCAGGAAATCTGTCCAGCACACACTGAGGGGCTGTGGCTTCCAAGATGCTCAGAAAGCACAAAATCGGGAAGACAATAAATGAGGGAACTCAGTTTTATCACAAAGCCCTTAAAGCTATTGAAGGCACCTTACTGGTACCAGGATTAGAACAG... | CGCTGGTGAGAAGGGTCCCTCTGGAGAGGCTGGTACTGCTGTAAGTGATTTCCAACTCCTCTTTCTTAATACCTTATGCTGAATTAAAATAAAGCCCCTACACAAATCTTCAAGTGGCATCTATTTGTTGATGAGTATTGCAGGCTCTCAAGTAGAGCTCAGTTGAGCCAGGAAATCTGTCCAGCACACACTGAGGGGCTGTGGCTTCCAAGATGCTCAGAAAGCACAAAATCGGGAAGACAATAAATGAGGGAACTCAGTTTTATCACAAAGCCCTTAAAGCTATTGAAGGCACCTTACTGGTACCAGGATTAGAACAG... |
Task1_train_11736 | Given this context: Chromosome 7, gene COL1A2 (collagen type I alpha 2 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Osteogenesis imperfecta type I | CTGCTGTAAGTGATTTCCAACTCCTCTTTCTTAATACCTTATGCTGAATTAAAATAAAGCCCCTACACAAATCTTCAAGTGGCATCTATTTGTTGATGAGTATTGCAGGCTCTCAAGTAGAGCTCAGTTGAGCCAGGAAATCTGTCCAGCACACACTGAGGGGCTGTGGCTTCCAAGATGCTCAGAAAGCACAAAATCGGGAAGACAATAAATGAGGGAACTCAGTTTTATCACAAAGCCCTTAAAGCTATTGAAGGCACCTTACTGGTACCAGGATTAGAACAGAGTCCCATTGCTGTGGCCATCCTACTACATATTAA... | CTGCTGTAAGTGATTTCCAACTCCTCTTTCTTAATACCTTATGCTGAATTAAAATAAAGCCCCTACACAAATCTTCAAGTGGCATCTATTTGTTGATGAGTATTGCAGGCTCTCAAGTAGAGCTCAGTTGAGCCAGGAAATCTGTCCAGCACACACTGAGGGGCTGTGGCTTCCAAGATGCTCAGAAAGCACAAAATCGGGAAGACAATAAATGAGGGAACTCAGTTTTATCACAAAGCCCTTAAAGCTATTGAAGGCACCTTACTGGTACCAGGATTAGAACAGAGTCCCATTGCTGTGGCCATCCTACTACATATTAA... |
Task1_train_11737 | This variant affects gene COL1A2 (collagen type I alpha 2 chain) located on Chromosome 7. Evaluate its biological effect and specify any disease association. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | CTGCTGTAAGTGATTTCCAACTCCTCTTTCTTAATACCTTATGCTGAATTAAAATAAAGCCCCTACACAAATCTTCAAGTGGCATCTATTTGTTGATGAGTATTGCAGGCTCTCAAGTAGAGCTCAGTTGAGCCAGGAAATCTGTCCAGCACACACTGAGGGGCTGTGGCTTCCAAGATGCTCAGAAAGCACAAAATCGGGAAGACAATAAATGAGGGAACTCAGTTTTATCACAAAGCCCTTAAAGCTATTGAAGGCACCTTACTGGTACCAGGATTAGAACAGAGTCCCATTGCTGTGGCCATCCTACTACATATTAA... | CTGCTGTAAGTGATTTCCAACTCCTCTTTCTTAATACCTTATGCTGAATTAAAATAAAGCCCCTACACAAATCTTCAAGTGGCATCTATTTGTTGATGAGTATTGCAGGCTCTCAAGTAGAGCTCAGTTGAGCCAGGAAATCTGTCCAGCACACACTGAGGGGCTGTGGCTTCCAAGATGCTCAGAAAGCACAAAATCGGGAAGACAATAAATGAGGGAACTCAGTTTTATCACAAAGCCCTTAAAGCTATTGAAGGCACCTTACTGGTACCAGGATTAGAACAGAGTCCCATTGCTGTGGCCATCCTACTACATATTAA... |
Task1_train_11738 | A variant affecting Chromosome 7, within the gene COL1A2 (collagen type I alpha 2 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | TGCTGTAAGTGATTTCCAACTCCTCTTTCTTAATACCTTATGCTGAATTAAAATAAAGCCCCTACACAAATCTTCAAGTGGCATCTATTTGTTGATGAGTATTGCAGGCTCTCAAGTAGAGCTCAGTTGAGCCAGGAAATCTGTCCAGCACACACTGAGGGGCTGTGGCTTCCAAGATGCTCAGAAAGCACAAAATCGGGAAGACAATAAATGAGGGAACTCAGTTTTATCACAAAGCCCTTAAAGCTATTGAAGGCACCTTACTGGTACCAGGATTAGAACAGAGTCCCATTGCTGTGGCCATCCTACTACATATTAAT... | TGCTGTAAGTGATTTCCAACTCCTCTTTCTTAATACCTTATGCTGAATTAAAATAAAGCCCCTACACAAATCTTCAAGTGGCATCTATTTGTTGATGAGTATTGCAGGCTCTCAAGTAGAGCTCAGTTGAGCCAGGAAATCTGTCCAGCACACACTGAGGGGCTGTGGCTTCCAAGATGCTCAGAAAGCACAAAATCGGGAAGACAATAAATGAGGGAACTCAGTTTTATCACAAAGCCCTTAAAGCTATTGAAGGCACCTTACTGGTACCAGGATTAGAACAGAGTCCCATTGCTGTGGCCATCCTACTACATATTAAT... |
Task1_train_11739 | An alteration has been detected in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TTCTTAATACCTTATGCTGAATTAAAATAAAGCCCCTACACAAATCTTCAAGTGGCATCTATTTGTTGATGAGTATTGCAGGCTCTCAAGTAGAGCTCAGTTGAGCCAGGAAATCTGTCCAGCACACACTGAGGGGCTGTGGCTTCCAAGATGCTCAGAAAGCACAAAATCGGGAAGACAATAAATGAGGGAACTCAGTTTTATCACAAAGCCCTTAAAGCTATTGAAGGCACCTTACTGGTACCAGGATTAGAACAGAGTCCCATTGCTGTGGCCATCCTACTACATATTAATCAATCTCAGTAGGCTACCAATTTCTT... | TTCTTAATACCTTATGCTGAATTAAAATAAAGCCCCTACACAAATCTTCAAGTGGCATCTATTTGTTGATGAGTATTGCAGGCTCTCAAGTAGAGCTCAGTTGAGCCAGGAAATCTGTCCAGCACACACTGAGGGGCTGTGGCTTCCAAGATGCTCAGAAAGCACAAAATCGGGAAGACAATAAATGAGGGAACTCAGTTTTATCACAAAGCCCTTAAAGCTATTGAAGGCACCTTACTGGTACCAGGATTAGAACAGAGTCCCATTGCTGTGGCCATCCTACTACATATTAATCAATCTCAGTAGGCTACCAATTTCTT... |
Task1_train_11740 | Located on Chromosome 7, this mutation impacts COL1A2 (collagen type I alpha 2 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Osteogenesis imperfecta type I | TTCTTAATACCTTATGCTGAATTAAAATAAAGCCCCTACACAAATCTTCAAGTGGCATCTATTTGTTGATGAGTATTGCAGGCTCTCAAGTAGAGCTCAGTTGAGCCAGGAAATCTGTCCAGCACACACTGAGGGGCTGTGGCTTCCAAGATGCTCAGAAAGCACAAAATCGGGAAGACAATAAATGAGGGAACTCAGTTTTATCACAAAGCCCTTAAAGCTATTGAAGGCACCTTACTGGTACCAGGATTAGAACAGAGTCCCATTGCTGTGGCCATCCTACTACATATTAATCAATCTCAGTAGGCTACCAATTTCTT... | TTCTTAATACCTTATGCTGAATTAAAATAAAGCCCCTACACAAATCTTCAAGTGGCATCTATTTGTTGATGAGTATTGCAGGCTCTCAAGTAGAGCTCAGTTGAGCCAGGAAATCTGTCCAGCACACACTGAGGGGCTGTGGCTTCCAAGATGCTCAGAAAGCACAAAATCGGGAAGACAATAAATGAGGGAACTCAGTTTTATCACAAAGCCCTTAAAGCTATTGAAGGCACCTTACTGGTACCAGGATTAGAACAGAGTCCCATTGCTGTGGCCATCCTACTACATATTAATCAATCTCAGTAGGCTACCAATTTCTT... |
Task1_train_11741 | Chromosome 7 houses a mutation in gene COL1A2 (collagen type I alpha 2 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | CCTTATGCTGAATTAAAATAAAGCCCCTACACAAATCTTCAAGTGGCATCTATTTGTTGATGAGTATTGCAGGCTCTCAAGTAGAGCTCAGTTGAGCCAGGAAATCTGTCCAGCACACACTGAGGGGCTGTGGCTTCCAAGATGCTCAGAAAGCACAAAATCGGGAAGACAATAAATGAGGGAACTCAGTTTTATCACAAAGCCCTTAAAGCTATTGAAGGCACCTTACTGGTACCAGGATTAGAACAGAGTCCCATTGCTGTGGCCATCCTACTACATATTAATCAATCTCAGTAGGCTACCAATTTCTTAAACATACA... | CCTTATGCTGAATTAAAATAAAGCCCCTACACAAATCTTCAAGTGGCATCTATTTGTTGATGAGTATTGCAGGCTCTCAAGTAGAGCTCAGTTGAGCCAGGAAATCTGTCCAGCACACACTGAGGGGCTGTGGCTTCCAAGATGCTCAGAAAGCACAAAATCGGGAAGACAATAAATGAGGGAACTCAGTTTTATCACAAAGCCCTTAAAGCTATTGAAGGCACCTTACTGGTACCAGGATTAGAACAGAGTCCCATTGCTGTGGCCATCCTACTACATATTAATCAATCTCAGTAGGCTACCAATTTCTTAAACATACA... |
Task1_train_11742 | Chromosome 7 houses a mutation in gene COL1A2 (collagen type I alpha 2 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Osteogenesis imperfecta type I | CCTTATGCTGAATTAAAATAAAGCCCCTACACAAATCTTCAAGTGGCATCTATTTGTTGATGAGTATTGCAGGCTCTCAAGTAGAGCTCAGTTGAGCCAGGAAATCTGTCCAGCACACACTGAGGGGCTGTGGCTTCCAAGATGCTCAGAAAGCACAAAATCGGGAAGACAATAAATGAGGGAACTCAGTTTTATCACAAAGCCCTTAAAGCTATTGAAGGCACCTTACTGGTACCAGGATTAGAACAGAGTCCCATTGCTGTGGCCATCCTACTACATATTAATCAATCTCAGTAGGCTACCAATTTCTTAAACATACA... | CCTTATGCTGAATTAAAATAAAGCCCCTACACAAATCTTCAAGTGGCATCTATTTGTTGATGAGTATTGCAGGCTCTCAAGTAGAGCTCAGTTGAGCCAGGAAATCTGTCCAGCACACACTGAGGGGCTGTGGCTTCCAAGATGCTCAGAAAGCACAAAATCGGGAAGACAATAAATGAGGGAACTCAGTTTTATCACAAAGCCCTTAAAGCTATTGAAGGCACCTTACTGGTACCAGGATTAGAACAGAGTCCCATTGCTGTGGCCATCCTACTACATATTAATCAATCTCAGTAGGCTACCAATTTCTTAAACATACA... |
Task1_train_11743 | Mutation context: Chromosome 7, Gene COL1A2 (collagen type I alpha 2 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Osteogenesis imperfecta type I | CTTATGCTGAATTAAAATAAAGCCCCTACACAAATCTTCAAGTGGCATCTATTTGTTGATGAGTATTGCAGGCTCTCAAGTAGAGCTCAGTTGAGCCAGGAAATCTGTCCAGCACACACTGAGGGGCTGTGGCTTCCAAGATGCTCAGAAAGCACAAAATCGGGAAGACAATAAATGAGGGAACTCAGTTTTATCACAAAGCCCTTAAAGCTATTGAAGGCACCTTACTGGTACCAGGATTAGAACAGAGTCCCATTGCTGTGGCCATCCTACTACATATTAATCAATCTCAGTAGGCTACCAATTTCTTAAACATACAC... | CTTATGCTGAATTAAAATAAAGCCCCTACACAAATCTTCAAGTGGCATCTATTTGTTGATGAGTATTGCAGGCTCTCAAGTAGAGCTCAGTTGAGCCAGGAAATCTGTCCAGCACACACTGAGGGGCTGTGGCTTCCAAGATGCTCAGAAAGCACAAAATCGGGAAGACAATAAATGAGGGAACTCAGTTTTATCACAAAGCCCTTAAAGCTATTGAAGGCACCTTACTGGTACCAGGATTAGAACAGAGTCCCATTGCTGTGGCCATCCTACTACATATTAATCAATCTCAGTAGGCTACCAATTTCTTAAACATACAC... |
Task1_train_11744 | Given this context: Chromosome 7, gene COL1A2 (collagen type I alpha 2 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | CTTATGCTGAATTAAAATAAAGCCCCTACACAAATCTTCAAGTGGCATCTATTTGTTGATGAGTATTGCAGGCTCTCAAGTAGAGCTCAGTTGAGCCAGGAAATCTGTCCAGCACACACTGAGGGGCTGTGGCTTCCAAGATGCTCAGAAAGCACAAAATCGGGAAGACAATAAATGAGGGAACTCAGTTTTATCACAAAGCCCTTAAAGCTATTGAAGGCACCTTACTGGTACCAGGATTAGAACAGAGTCCCATTGCTGTGGCCATCCTACTACATATTAATCAATCTCAGTAGGCTACCAATTTCTTAAACATACAC... | CTTATGCTGAATTAAAATAAAGCCCCTACACAAATCTTCAAGTGGCATCTATTTGTTGATGAGTATTGCAGGCTCTCAAGTAGAGCTCAGTTGAGCCAGGAAATCTGTCCAGCACACACTGAGGGGCTGTGGCTTCCAAGATGCTCAGAAAGCACAAAATCGGGAAGACAATAAATGAGGGAACTCAGTTTTATCACAAAGCCCTTAAAGCTATTGAAGGCACCTTACTGGTACCAGGATTAGAACAGAGTCCCATTGCTGTGGCCATCCTACTACATATTAATCAATCTCAGTAGGCTACCAATTTCTTAAACATACAC... |
Task1_train_11745 | This variant lies on Chromosome 7 and affects the gene COL1A2 (collagen type I alpha 2 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TTTTGTTTTTGTTTTTTGTTTTTGTTTTTGTTTTTTTGTTTTGGGATGGAGTTCCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCGACTTCCGCCTCCCCAGTTTAAGTAATTATCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACACCATCATGCCTAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCACCCACCTTGACCTCCTAAAGTGCTGGGATTACACATGTGAGCCACCCCACCC... | TTTTGTTTTTGTTTTTTGTTTTTGTTTTTGTTTTTTTGTTTTGGGATGGAGTTCCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCGACTTCCGCCTCCCCAGTTTAAGTAATTATCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACACCATCATGCCTAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCACCCACCTTGACCTCCTAAAGTGCTGGGATTACACATGTGAGCCACCCCACCC... |
Task1_train_11746 | A sequence alteration has been identified in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Osteogenesis imperfecta type I | TTTTGTTTTTGTTTTTTGTTTTTGTTTTTGTTTTTTTGTTTTGGGATGGAGTTCCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCGACTTCCGCCTCCCCAGTTTAAGTAATTATCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACACCATCATGCCTAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCACCCACCTTGACCTCCTAAAGTGCTGGGATTACACATGTGAGCCACCCCACCC... | TTTTGTTTTTGTTTTTTGTTTTTGTTTTTGTTTTTTTGTTTTGGGATGGAGTTCCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCGACTTCCGCCTCCCCAGTTTAAGTAATTATCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACACCATCATGCCTAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCACCCACCTTGACCTCCTAAAGTGCTGGGATTACACATGTGAGCCACCCCACCC... |
Task1_train_11747 | A variant has been detected on Chromosome 7 in COL1A2 (collagen type I alpha 2 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | TTTTTGTTTTTGTTTTTTTGTTTTGGGATGGAGTTCCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCGACTTCCGCCTCCCCAGTTTAAGTAATTATCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACACCATCATGCCTAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCACCCACCTTGACCTCCTAAAGTGCTGGGATTACACATGTGAGCCACCCCACCCAGCCTGATTTCCTTTCCT... | TTTTTGTTTTTGTTTTTTTGTTTTGGGATGGAGTTCCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCGACTTCCGCCTCCCCAGTTTAAGTAATTATCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACACCATCATGCCTAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCACCCACCTTGACCTCCTAAAGTGCTGGGATTACACATGTGAGCCACCCCACCCAGCCTGATTTCCTTTCCT... |
Task1_train_11748 | Given this context: Chromosome 7, gene COL1A2 (collagen type I alpha 2 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Osteogenesis imperfecta type I | TGTTTTTTTGTTTTGGGATGGAGTTCCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCGACTTCCGCCTCCCCAGTTTAAGTAATTATCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACACCATCATGCCTAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCACCCACCTTGACCTCCTAAAGTGCTGGGATTACACATGTGAGCCACCCCACCCAGCCTGATTTCCTTTCCTTTGTGTATAT... | TGTTTTTTTGTTTTGGGATGGAGTTCCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCGACTTCCGCCTCCCCAGTTTAAGTAATTATCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACACCATCATGCCTAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCACCCACCTTGACCTCCTAAAGTGCTGGGATTACACATGTGAGCCACCCCACCCAGCCTGATTTCCTTTCCTTTGTGTATAT... |
Task1_train_11749 | A change on Chromosome 7 affects gene COL1A2 (collagen type I alpha 2 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TGTTTTTTTGTTTTGGGATGGAGTTCCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCGACTTCCGCCTCCCCAGTTTAAGTAATTATCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACACCATCATGCCTAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCACCCACCTTGACCTCCTAAAGTGCTGGGATTACACATGTGAGCCACCCCACCCAGCCTGATTTCCTTTCCTTTGTGTATAT... | TGTTTTTTTGTTTTGGGATGGAGTTCCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCGACTTCCGCCTCCCCAGTTTAAGTAATTATCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACACCATCATGCCTAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCACCCACCTTGACCTCCTAAAGTGCTGGGATTACACATGTGAGCCACCCCACCCAGCCTGATTTCCTTTCCTTTGTGTATAT... |
Task1_train_11750 | Gene COL1A2 (collagen type I alpha 2 chain), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | CAGCCTCCCGAGTAGCTGGGACTACAGGCACACACCATCATGCCTAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCACCCACCTTGACCTCCTAAAGTGCTGGGATTACACATGTGAGCCACCCCACCCAGCCTGATTTCCTTTCCTTTGTGTATATACCCAGCAGTGTGATTGCTGGATCTTATGGTAGTTCTATTTTTAGTTTTTTGAGGAACCCCTCCTACTATGTACAACTATTATGTATCCATAACAATTTAAATTTTTTTATT... | CAGCCTCCCGAGTAGCTGGGACTACAGGCACACACCATCATGCCTAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCACCCACCTTGACCTCCTAAAGTGCTGGGATTACACATGTGAGCCACCCCACCCAGCCTGATTTCCTTTCCTTTGTGTATATACCCAGCAGTGTGATTGCTGGATCTTATGGTAGTTCTATTTTTAGTTTTTTGAGGAACCCCTCCTACTATGTACAACTATTATGTATCCATAACAATTTAAATTTTTTTATT... |
Task1_train_11751 | Here’s a variant in COL1A2 (collagen type I alpha 2 chain) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Osteogenesis imperfecta type I | CAGCCTCCCGAGTAGCTGGGACTACAGGCACACACCATCATGCCTAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCACCCACCTTGACCTCCTAAAGTGCTGGGATTACACATGTGAGCCACCCCACCCAGCCTGATTTCCTTTCCTTTGTGTATATACCCAGCAGTGTGATTGCTGGATCTTATGGTAGTTCTATTTTTAGTTTTTTGAGGAACCCCTCCTACTATGTACAACTATTATGTATCCATAACAATTTAAATTTTTTTATT... | CAGCCTCCCGAGTAGCTGGGACTACAGGCACACACCATCATGCCTAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCACCCACCTTGACCTCCTAAAGTGCTGGGATTACACATGTGAGCCACCCCACCCAGCCTGATTTCCTTTCCTTTGTGTATATACCCAGCAGTGTGATTGCTGGATCTTATGGTAGTTCTATTTTTAGTTTTTTGAGGAACCCCTCCTACTATGTACAACTATTATGTATCCATAACAATTTAAATTTTTTTATT... |
Task1_train_11752 | This variant affects the gene COL1A2 (collagen type I alpha 2 chain) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TCATGCCTAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCACCCACCTTGACCTCCTAAAGTGCTGGGATTACACATGTGAGCCACCCCACCCAGCCTGATTTCCTTTCCTTTGTGTATATACCCAGCAGTGTGATTGCTGGATCTTATGGTAGTTCTATTTTTAGTTTTTTGAGGAACCCCTCCTACTATGTACAACTATTATGTATCCATAACAATTTAAATTTTTTTATTTGTTTCCCTGCCTAGAGGCTATAAAAACTCTATTTCA... | TCATGCCTAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCACCCACCTTGACCTCCTAAAGTGCTGGGATTACACATGTGAGCCACCCCACCCAGCCTGATTTCCTTTCCTTTGTGTATATACCCAGCAGTGTGATTGCTGGATCTTATGGTAGTTCTATTTTTAGTTTTTTGAGGAACCCCTCCTACTATGTACAACTATTATGTATCCATAACAATTTAAATTTTTTTATTTGTTTCCCTGCCTAGAGGCTATAAAAACTCTATTTCA... |
Task1_train_11753 | A variant was discovered on Chromosome 7, affecting COL1A2 (collagen type I alpha 2 chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Osteogenesis imperfecta type I | TCATGCCTAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCACCCACCTTGACCTCCTAAAGTGCTGGGATTACACATGTGAGCCACCCCACCCAGCCTGATTTCCTTTCCTTTGTGTATATACCCAGCAGTGTGATTGCTGGATCTTATGGTAGTTCTATTTTTAGTTTTTTGAGGAACCCCTCCTACTATGTACAACTATTATGTATCCATAACAATTTAAATTTTTTTATTTGTTTCCCTGCCTAGAGGCTATAAAAACTCTATTTCA... | TCATGCCTAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCACCCACCTTGACCTCCTAAAGTGCTGGGATTACACATGTGAGCCACCCCACCCAGCCTGATTTCCTTTCCTTTGTGTATATACCCAGCAGTGTGATTGCTGGATCTTATGGTAGTTCTATTTTTAGTTTTTTGAGGAACCCCTCCTACTATGTACAACTATTATGTATCCATAACAATTTAAATTTTTTTATTTGTTTCCCTGCCTAGAGGCTATAAAAACTCTATTTCA... |
Task1_train_11754 | The following genetic variant occurs in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | GCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCACCCACCTTGACCTCCTAAAGTGCTGGGATTACACATGTGAGCCACCCCACCCAGCCTGATTTCCTTTCCTTTGTGTATATACCCAGCAGTGTGATTGCTGGATCTTATGGTAGTTCTATTTTTAGTTTTTTGAGGAACCCCTCCTACTATGTACAACTATTATGTATCCATAACAATTTAAATTTTTTTATTTGTTTCCCTGCCTAGAGGCTATAAAAACTCTATTTCACCACCCCAA... | GCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCACCCACCTTGACCTCCTAAAGTGCTGGGATTACACATGTGAGCCACCCCACCCAGCCTGATTTCCTTTCCTTTGTGTATATACCCAGCAGTGTGATTGCTGGATCTTATGGTAGTTCTATTTTTAGTTTTTTGAGGAACCCCTCCTACTATGTACAACTATTATGTATCCATAACAATTTAAATTTTTTTATTTGTTTCCCTGCCTAGAGGCTATAAAAACTCTATTTCACCACCCCAA... |
Task1_train_11755 | An alteration has been detected in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Osteogenesis imperfecta type I | GGGGTTTCACCATATTGGTCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCACCCACCTTGACCTCCTAAAGTGCTGGGATTACACATGTGAGCCACCCCACCCAGCCTGATTTCCTTTCCTTTGTGTATATACCCAGCAGTGTGATTGCTGGATCTTATGGTAGTTCTATTTTTAGTTTTTTGAGGAACCCCTCCTACTATGTACAACTATTATGTATCCATAACAATTTAAATTTTTTTATTTGTTTCCCTGCCTAGAGGCTATAAAAACTCTATTTCACCACCCCAAGTGTCTTTATAAATCTCAACCACATAT... | GGGGTTTCACCATATTGGTCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCACCCACCTTGACCTCCTAAAGTGCTGGGATTACACATGTGAGCCACCCCACCCAGCCTGATTTCCTTTCCTTTGTGTATATACCCAGCAGTGTGATTGCTGGATCTTATGGTAGTTCTATTTTTAGTTTTTTGAGGAACCCCTCCTACTATGTACAACTATTATGTATCCATAACAATTTAAATTTTTTTATTTGTTTCCCTGCCTAGAGGCTATAAAAACTCTATTTCACCACCCCAAGTGTCTTTATAAATCTCAACCACATAT... |
Task1_train_11756 | This variant lies on Chromosome 7 and affects the gene COL1A2 (collagen type I alpha 2 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | GGGGTTTCACCATATTGGTCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCACCCACCTTGACCTCCTAAAGTGCTGGGATTACACATGTGAGCCACCCCACCCAGCCTGATTTCCTTTCCTTTGTGTATATACCCAGCAGTGTGATTGCTGGATCTTATGGTAGTTCTATTTTTAGTTTTTTGAGGAACCCCTCCTACTATGTACAACTATTATGTATCCATAACAATTTAAATTTTTTTATTTGTTTCCCTGCCTAGAGGCTATAAAAACTCTATTTCACCACCCCAAGTGTCTTTATAAATCTCAACCACATAT... | GGGGTTTCACCATATTGGTCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCACCCACCTTGACCTCCTAAAGTGCTGGGATTACACATGTGAGCCACCCCACCCAGCCTGATTTCCTTTCCTTTGTGTATATACCCAGCAGTGTGATTGCTGGATCTTATGGTAGTTCTATTTTTAGTTTTTTGAGGAACCCCTCCTACTATGTACAACTATTATGTATCCATAACAATTTAAATTTTTTTATTTGTTTCCCTGCCTAGAGGCTATAAAAACTCTATTTCACCACCCCAAGTGTCTTTATAAATCTCAACCACATAT... |
Task1_train_11757 | A mutation in COL1A2 (collagen type I alpha 2 chain), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Osteogenesis imperfecta | GGGGTTTCACCATATTGGTCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCACCCACCTTGACCTCCTAAAGTGCTGGGATTACACATGTGAGCCACCCCACCCAGCCTGATTTCCTTTCCTTTGTGTATATACCCAGCAGTGTGATTGCTGGATCTTATGGTAGTTCTATTTTTAGTTTTTTGAGGAACCCCTCCTACTATGTACAACTATTATGTATCCATAACAATTTAAATTTTTTTATTTGTTTCCCTGCCTAGAGGCTATAAAAACTCTATTTCACCACCCCAAGTGTCTTTATAAATCTCAACCACATAT... | GGGGTTTCACCATATTGGTCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCACCCACCTTGACCTCCTAAAGTGCTGGGATTACACATGTGAGCCACCCCACCCAGCCTGATTTCCTTTCCTTTGTGTATATACCCAGCAGTGTGATTGCTGGATCTTATGGTAGTTCTATTTTTAGTTTTTTGAGGAACCCCTCCTACTATGTACAACTATTATGTATCCATAACAATTTAAATTTTTTTATTTGTTTCCCTGCCTAGAGGCTATAAAAACTCTATTTCACCACCCCAAGTGTCTTTATAAATCTCAACCACATAT... |
Task1_train_11758 | Here’s a variant in COL1A2 (collagen type I alpha 2 chain) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Osteogenesis imperfecta type I | AGTTCTATTTTTAGTTTTTTGAGGAACCCCTCCTACTATGTACAACTATTATGTATCCATAACAATTTAAATTTTTTTATTTGTTTCCCTGCCTAGAGGCTATAAAAACTCTATTTCACCACCCCAAGTGTCTTTATAAATCTCAACCACATATTTTTAAATGTTGTGCCATTGGTCTCAAGGATGAATCAGATACAAAAGTATTCATGCCAAGATGTAAACTCACCGTCATCACTAGAGAAAAGATATCCAAGGATATGTCCTAGTAATAGGAGGTCATTAGCCTTTTTCTAAGCTGAAGACAGTTTATTCTCACAATC... | AGTTCTATTTTTAGTTTTTTGAGGAACCCCTCCTACTATGTACAACTATTATGTATCCATAACAATTTAAATTTTTTTATTTGTTTCCCTGCCTAGAGGCTATAAAAACTCTATTTCACCACCCCAAGTGTCTTTATAAATCTCAACCACATATTTTTAAATGTTGTGCCATTGGTCTCAAGGATGAATCAGATACAAAAGTATTCATGCCAAGATGTAAACTCACCGTCATCACTAGAGAAAAGATATCCAAGGATATGTCCTAGTAATAGGAGGTCATTAGCCTTTTTCTAAGCTGAAGACAGTTTATTCTCACAATC... |
Task1_train_11759 | Gene COL1A2 (collagen type I alpha 2 chain), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | AGTTCTATTTTTAGTTTTTTGAGGAACCCCTCCTACTATGTACAACTATTATGTATCCATAACAATTTAAATTTTTTTATTTGTTTCCCTGCCTAGAGGCTATAAAAACTCTATTTCACCACCCCAAGTGTCTTTATAAATCTCAACCACATATTTTTAAATGTTGTGCCATTGGTCTCAAGGATGAATCAGATACAAAAGTATTCATGCCAAGATGTAAACTCACCGTCATCACTAGAGAAAAGATATCCAAGGATATGTCCTAGTAATAGGAGGTCATTAGCCTTTTTCTAAGCTGAAGACAGTTTATTCTCACAATC... | AGTTCTATTTTTAGTTTTTTGAGGAACCCCTCCTACTATGTACAACTATTATGTATCCATAACAATTTAAATTTTTTTATTTGTTTCCCTGCCTAGAGGCTATAAAAACTCTATTTCACCACCCCAAGTGTCTTTATAAATCTCAACCACATATTTTTAAATGTTGTGCCATTGGTCTCAAGGATGAATCAGATACAAAAGTATTCATGCCAAGATGTAAACTCACCGTCATCACTAGAGAAAAGATATCCAAGGATATGTCCTAGTAATAGGAGGTCATTAGCCTTTTTCTAAGCTGAAGACAGTTTATTCTCACAATC... |
Task1_train_11760 | The gene COL1A2 (collagen type I alpha 2 chain) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Osteogenesis imperfecta type III | TTCTGGGTCTCCCTGGCTCGAGAGGTGAACGTGGTCTACCAGGTGTTGCTGGTGCTGTGGTGAGTGCTTGACAGTATTCTGACTCCATTAACATAAGAAAAGATTTTAAAAGCTGCCACTTCAAATGTGACAGATTGATCACTGAATAACTTCACTTAAGATTTTTATTCATGGCATTTTCTTTATACAGATCACATGTCACTTATCTAAGAAGCTTTAATACCACCTTACTTAGACACACACTATAAAGACACAGCTTAAAATTATGCAGAATGATTTTTGTTCTTTCCACGCACTTAGGAATGATACAATCTCTAATT... | TTCTGGGTCTCCCTGGCTCGAGAGGTGAACGTGGTCTACCAGGTGTTGCTGGTGCTGTGGTGAGTGCTTGACAGTATTCTGACTCCATTAACATAAGAAAAGATTTTAAAAGCTGCCACTTCAAATGTGACAGATTGATCACTGAATAACTTCACTTAAGATTTTTATTCATGGCATTTTCTTTATACAGATCACATGTCACTTATCTAAGAAGCTTTAATACCACCTTACTTAGACACACACTATAAAGACACAGCTTAAAATTATGCAGAATGATTTTTGTTCTTTCCACGCACTTAGGAATGATACAATCTCTAATT... |
Task1_train_11761 | Gene COL1A2 (collagen type I alpha 2 chain), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Osteogenesis imperfecta type III | TCCCTGGCTCGAGAGGTGAACGTGGTCTACCAGGTGTTGCTGGTGCTGTGGTGAGTGCTTGACAGTATTCTGACTCCATTAACATAAGAAAAGATTTTAAAAGCTGCCACTTCAAATGTGACAGATTGATCACTGAATAACTTCACTTAAGATTTTTATTCATGGCATTTTCTTTATACAGATCACATGTCACTTATCTAAGAAGCTTTAATACCACCTTACTTAGACACACACTATAAAGACACAGCTTAAAATTATGCAGAATGATTTTTGTTCTTTCCACGCACTTAGGAATGATACAATCTCTAATTGCGTTTACT... | TCCCTGGCTCGAGAGGTGAACGTGGTCTACCAGGTGTTGCTGGTGCTGTGGTGAGTGCTTGACAGTATTCTGACTCCATTAACATAAGAAAAGATTTTAAAAGCTGCCACTTCAAATGTGACAGATTGATCACTGAATAACTTCACTTAAGATTTTTATTCATGGCATTTTCTTTATACAGATCACATGTCACTTATCTAAGAAGCTTTAATACCACCTTACTTAGACACACACTATAAAGACACAGCTTAAAATTATGCAGAATGATTTTTGTTCTTTCCACGCACTTAGGAATGATACAATCTCTAATTGCGTTTACT... |
Task1_train_11762 | The gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | GAACGTGGTCTACCAGGTGTTGCTGGTGCTGTGGTGAGTGCTTGACAGTATTCTGACTCCATTAACATAAGAAAAGATTTTAAAAGCTGCCACTTCAAATGTGACAGATTGATCACTGAATAACTTCACTTAAGATTTTTATTCATGGCATTTTCTTTATACAGATCACATGTCACTTATCTAAGAAGCTTTAATACCACCTTACTTAGACACACACTATAAAGACACAGCTTAAAATTATGCAGAATGATTTTTGTTCTTTCCACGCACTTAGGAATGATACAATCTCTAATTGCGTTTACTCCTCTGCAATATGAAAT... | GAACGTGGTCTACCAGGTGTTGCTGGTGCTGTGGTGAGTGCTTGACAGTATTCTGACTCCATTAACATAAGAAAAGATTTTAAAAGCTGCCACTTCAAATGTGACAGATTGATCACTGAATAACTTCACTTAAGATTTTTATTCATGGCATTTTCTTTATACAGATCACATGTCACTTATCTAAGAAGCTTTAATACCACCTTACTTAGACACACACTATAAAGACACAGCTTAAAATTATGCAGAATGATTTTTGTTCTTTCCACGCACTTAGGAATGATACAATCTCTAATTGCGTTTACTCCTCTGCAATATGAAAT... |
Task1_train_11763 | With a mutation on Chromosome 7 in gene COL1A2 (collagen type I alpha 2 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | CAGTATTCTGACTCCATTAACATAAGAAAAGATTTTAAAAGCTGCCACTTCAAATGTGACAGATTGATCACTGAATAACTTCACTTAAGATTTTTATTCATGGCATTTTCTTTATACAGATCACATGTCACTTATCTAAGAAGCTTTAATACCACCTTACTTAGACACACACTATAAAGACACAGCTTAAAATTATGCAGAATGATTTTTGTTCTTTCCACGCACTTAGGAATGATACAATCTCTAATTGCGTTTACTCCTCTGCAATATGAAATGCTGGCATCATTTATCCTGTAGGAAGAATGAAACTCTGGAAGTTC... | CAGTATTCTGACTCCATTAACATAAGAAAAGATTTTAAAAGCTGCCACTTCAAATGTGACAGATTGATCACTGAATAACTTCACTTAAGATTTTTATTCATGGCATTTTCTTTATACAGATCACATGTCACTTATCTAAGAAGCTTTAATACCACCTTACTTAGACACACACTATAAAGACACAGCTTAAAATTATGCAGAATGATTTTTGTTCTTTCCACGCACTTAGGAATGATACAATCTCTAATTGCGTTTACTCCTCTGCAATATGAAATGCTGGCATCATTTATCCTGTAGGAAGAATGAAACTCTGGAAGTTC... |
Task1_train_11764 | A sequence alteration has been identified in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; not provided | AGTATTCTGACTCCATTAACATAAGAAAAGATTTTAAAAGCTGCCACTTCAAATGTGACAGATTGATCACTGAATAACTTCACTTAAGATTTTTATTCATGGCATTTTCTTTATACAGATCACATGTCACTTATCTAAGAAGCTTTAATACCACCTTACTTAGACACACACTATAAAGACACAGCTTAAAATTATGCAGAATGATTTTTGTTCTTTCCACGCACTTAGGAATGATACAATCTCTAATTGCGTTTACTCCTCTGCAATATGAAATGCTGGCATCATTTATCCTGTAGGAAGAATGAAACTCTGGAAGTTCT... | AGTATTCTGACTCCATTAACATAAGAAAAGATTTTAAAAGCTGCCACTTCAAATGTGACAGATTGATCACTGAATAACTTCACTTAAGATTTTTATTCATGGCATTTTCTTTATACAGATCACATGTCACTTATCTAAGAAGCTTTAATACCACCTTACTTAGACACACACTATAAAGACACAGCTTAAAATTATGCAGAATGATTTTTGTTCTTTCCACGCACTTAGGAATGATACAATCTCTAATTGCGTTTACTCCTCTGCAATATGAAATGCTGGCATCATTTATCCTGTAGGAAGAATGAAACTCTGGAAGTTCT... |
Task1_train_11765 | A variant has been detected on Chromosome 7 in COL1A2 (collagen type I alpha 2 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form | GACTCCATTAACATAAGAAAAGATTTTAAAAGCTGCCACTTCAAATGTGACAGATTGATCACTGAATAACTTCACTTAAGATTTTTATTCATGGCATTTTCTTTATACAGATCACATGTCACTTATCTAAGAAGCTTTAATACCACCTTACTTAGACACACACTATAAAGACACAGCTTAAAATTATGCAGAATGATTTTTGTTCTTTCCACGCACTTAGGAATGATACAATCTCTAATTGCGTTTACTCCTCTGCAATATGAAATGCTGGCATCATTTATCCTGTAGGAAGAATGAAACTCTGGAAGTTCTGAATCGTT... | GACTCCATTAACATAAGAAAAGATTTTAAAAGCTGCCACTTCAAATGTGACAGATTGATCACTGAATAACTTCACTTAAGATTTTTATTCATGGCATTTTCTTTATACAGATCACATGTCACTTATCTAAGAAGCTTTAATACCACCTTACTTAGACACACACTATAAAGACACAGCTTAAAATTATGCAGAATGATTTTTGTTCTTTCCACGCACTTAGGAATGATACAATCTCTAATTGCGTTTACTCCTCTGCAATATGAAATGCTGGCATCATTTATCCTGTAGGAAGAATGAAACTCTGGAAGTTCTGAATCGTT... |
Task1_train_11766 | A variant found in Chromosome 7 affects COL1A2 (collagen type I alpha 2 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Osteogenesis imperfecta type III | ACTCCATTAACATAAGAAAAGATTTTAAAAGCTGCCACTTCAAATGTGACAGATTGATCACTGAATAACTTCACTTAAGATTTTTATTCATGGCATTTTCTTTATACAGATCACATGTCACTTATCTAAGAAGCTTTAATACCACCTTACTTAGACACACACTATAAAGACACAGCTTAAAATTATGCAGAATGATTTTTGTTCTTTCCACGCACTTAGGAATGATACAATCTCTAATTGCGTTTACTCCTCTGCAATATGAAATGCTGGCATCATTTATCCTGTAGGAAGAATGAAACTCTGGAAGTTCTGAATCGTTC... | ACTCCATTAACATAAGAAAAGATTTTAAAAGCTGCCACTTCAAATGTGACAGATTGATCACTGAATAACTTCACTTAAGATTTTTATTCATGGCATTTTCTTTATACAGATCACATGTCACTTATCTAAGAAGCTTTAATACCACCTTACTTAGACACACACTATAAAGACACAGCTTAAAATTATGCAGAATGATTTTTGTTCTTTCCACGCACTTAGGAATGATACAATCTCTAATTGCGTTTACTCCTCTGCAATATGAAATGCTGGCATCATTTATCCTGTAGGAAGAATGAAACTCTGGAAGTTCTGAATCGTTC... |
Task1_train_11767 | This alteration in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Short fetal femur length | TGATACTAATGATACTTCTTACCATTGTGTGACCCATTCACATTCAATTTACCTTCTTCCTTCAAACTAGAATCTCCTGAGTAGGGTTGTTTTGGAGGGGAAGGTTAGCATTCCATCGAATAAGGGGAATGTCATTTTATCTTCTCTGCCTGTTTAGGGTGAACCTGGTCCTCTTGGCATTGCCGGCCCTCCTGGGGCCCGTGGTCCTCCTGGTGCTGTGGGTAGTCCTGGAGTCAACGGTGCTCCTGGTGAAGCTGGTCGTGATGTGAGTCCAACACTTGGTTTGTAAAATAAAACTGAGCAGGATTTCATTGTGTGAA... | TGATACTAATGATACTTCTTACCATTGTGTGACCCATTCACATTCAATTTACCTTCTTCCTTCAAACTAGAATCTCCTGAGTAGGGTTGTTTTGGAGGGGAAGGTTAGCATTCCATCGAATAAGGGGAATGTCATTTTATCTTCTCTGCCTGTTTAGGGTGAACCTGGTCCTCTTGGCATTGCCGGCCCTCCTGGGGCCCGTGGTCCTCCTGGTGCTGTGGGTAGTCCTGGAGTCAACGGTGCTCCTGGTGAAGCTGGTCGTGATGTGAGTCCAACACTTGGTTTGTAAAATAAAACTGAGCAGGATTTCATTGTGTGAA... |
Task1_train_11768 | A variant was discovered on Chromosome 7, affecting COL1A2 (collagen type I alpha 2 chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; See cases | TGATACTAATGATACTTCTTACCATTGTGTGACCCATTCACATTCAATTTACCTTCTTCCTTCAAACTAGAATCTCCTGAGTAGGGTTGTTTTGGAGGGGAAGGTTAGCATTCCATCGAATAAGGGGAATGTCATTTTATCTTCTCTGCCTGTTTAGGGTGAACCTGGTCCTCTTGGCATTGCCGGCCCTCCTGGGGCCCGTGGTCCTCCTGGTGCTGTGGGTAGTCCTGGAGTCAACGGTGCTCCTGGTGAAGCTGGTCGTGATGTGAGTCCAACACTTGGTTTGTAAAATAAAACTGAGCAGGATTTCATTGTGTGAA... | TGATACTAATGATACTTCTTACCATTGTGTGACCCATTCACATTCAATTTACCTTCTTCCTTCAAACTAGAATCTCCTGAGTAGGGTTGTTTTGGAGGGGAAGGTTAGCATTCCATCGAATAAGGGGAATGTCATTTTATCTTCTCTGCCTGTTTAGGGTGAACCTGGTCCTCTTGGCATTGCCGGCCCTCCTGGGGCCCGTGGTCCTCCTGGTGCTGTGGGTAGTCCTGGAGTCAACGGTGCTCCTGGTGAAGCTGGTCGTGATGTGAGTCCAACACTTGGTTTGTAAAATAAAACTGAGCAGGATTTCATTGTGTGAA... |
Task1_train_11769 | This mutation occurs in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form | TGATACTAATGATACTTCTTACCATTGTGTGACCCATTCACATTCAATTTACCTTCTTCCTTCAAACTAGAATCTCCTGAGTAGGGTTGTTTTGGAGGGGAAGGTTAGCATTCCATCGAATAAGGGGAATGTCATTTTATCTTCTCTGCCTGTTTAGGGTGAACCTGGTCCTCTTGGCATTGCCGGCCCTCCTGGGGCCCGTGGTCCTCCTGGTGCTGTGGGTAGTCCTGGAGTCAACGGTGCTCCTGGTGAAGCTGGTCGTGATGTGAGTCCAACACTTGGTTTGTAAAATAAAACTGAGCAGGATTTCATTGTGTGAA... | TGATACTAATGATACTTCTTACCATTGTGTGACCCATTCACATTCAATTTACCTTCTTCCTTCAAACTAGAATCTCCTGAGTAGGGTTGTTTTGGAGGGGAAGGTTAGCATTCCATCGAATAAGGGGAATGTCATTTTATCTTCTCTGCCTGTTTAGGGTGAACCTGGTCCTCTTGGCATTGCCGGCCCTCCTGGGGCCCGTGGTCCTCCTGGTGCTGTGGGTAGTCCTGGAGTCAACGGTGCTCCTGGTGAAGCTGGTCGTGATGTGAGTCCAACACTTGGTTTGTAAAATAAAACTGAGCAGGATTTCATTGTGTGAA... |
Task1_train_11770 | This variant impacts the gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is the change likely to result in a pathogenic outcome? | Pathogenic; Osteogenesis imperfecta type I | TTACCATTGTGTGACCCATTCACATTCAATTTACCTTCTTCCTTCAAACTAGAATCTCCTGAGTAGGGTTGTTTTGGAGGGGAAGGTTAGCATTCCATCGAATAAGGGGAATGTCATTTTATCTTCTCTGCCTGTTTAGGGTGAACCTGGTCCTCTTGGCATTGCCGGCCCTCCTGGGGCCCGTGGTCCTCCTGGTGCTGTGGGTAGTCCTGGAGTCAACGGTGCTCCTGGTGAAGCTGGTCGTGATGTGAGTCCAACACTTGGTTTGTAAAATAAAACTGAGCAGGATTTCATTGTGTGAAACTTTATGTCCTGAGCTG... | TTACCATTGTGTGACCCATTCACATTCAATTTACCTTCTTCCTTCAAACTAGAATCTCCTGAGTAGGGTTGTTTTGGAGGGGAAGGTTAGCATTCCATCGAATAAGGGGAATGTCATTTTATCTTCTCTGCCTGTTTAGGGTGAACCTGGTCCTCTTGGCATTGCCGGCCCTCCTGGGGCCCGTGGTCCTCCTGGTGCTGTGGGTAGTCCTGGAGTCAACGGTGCTCCTGGTGAAGCTGGTCGTGATGTGAGTCCAACACTTGGTTTGTAAAATAAAACTGAGCAGGATTTCATTGTGTGAAACTTTATGTCCTGAGCTG... |
Task1_train_11771 | This mutation is located in gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TTACCATTGTGTGACCCATTCACATTCAATTTACCTTCTTCCTTCAAACTAGAATCTCCTGAGTAGGGTTGTTTTGGAGGGGAAGGTTAGCATTCCATCGAATAAGGGGAATGTCATTTTATCTTCTCTGCCTGTTTAGGGTGAACCTGGTCCTCTTGGCATTGCCGGCCCTCCTGGGGCCCGTGGTCCTCCTGGTGCTGTGGGTAGTCCTGGAGTCAACGGTGCTCCTGGTGAAGCTGGTCGTGATGTGAGTCCAACACTTGGTTTGTAAAATAAAACTGAGCAGGATTTCATTGTGTGAAACTTTATGTCCTGAGCTG... | TTACCATTGTGTGACCCATTCACATTCAATTTACCTTCTTCCTTCAAACTAGAATCTCCTGAGTAGGGTTGTTTTGGAGGGGAAGGTTAGCATTCCATCGAATAAGGGGAATGTCATTTTATCTTCTCTGCCTGTTTAGGGTGAACCTGGTCCTCTTGGCATTGCCGGCCCTCCTGGGGCCCGTGGTCCTCCTGGTGCTGTGGGTAGTCCTGGAGTCAACGGTGCTCCTGGTGAAGCTGGTCGTGATGTGAGTCCAACACTTGGTTTGTAAAATAAAACTGAGCAGGATTTCATTGTGTGAAACTTTATGTCCTGAGCTG... |
Task1_train_11772 | A variant affecting Chromosome 7, within the gene COL1A2 (collagen type I alpha 2 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Osteogenesis imperfecta type I | TCACATTCAATTTACCTTCTTCCTTCAAACTAGAATCTCCTGAGTAGGGTTGTTTTGGAGGGGAAGGTTAGCATTCCATCGAATAAGGGGAATGTCATTTTATCTTCTCTGCCTGTTTAGGGTGAACCTGGTCCTCTTGGCATTGCCGGCCCTCCTGGGGCCCGTGGTCCTCCTGGTGCTGTGGGTAGTCCTGGAGTCAACGGTGCTCCTGGTGAAGCTGGTCGTGATGTGAGTCCAACACTTGGTTTGTAAAATAAAACTGAGCAGGATTTCATTGTGTGAAACTTTATGTCCTGAGCTGAGGTTCTCTTCTTCCAAAT... | TCACATTCAATTTACCTTCTTCCTTCAAACTAGAATCTCCTGAGTAGGGTTGTTTTGGAGGGGAAGGTTAGCATTCCATCGAATAAGGGGAATGTCATTTTATCTTCTCTGCCTGTTTAGGGTGAACCTGGTCCTCTTGGCATTGCCGGCCCTCCTGGGGCCCGTGGTCCTCCTGGTGCTGTGGGTAGTCCTGGAGTCAACGGTGCTCCTGGTGAAGCTGGTCGTGATGTGAGTCCAACACTTGGTTTGTAAAATAAAACTGAGCAGGATTTCATTGTGTGAAACTTTATGTCCTGAGCTGAGGTTCTCTTCTTCCAAAT... |
Task1_train_11773 | This gene mutation involves COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it associated with any clinical condition, or is it benign? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TCACATTCAATTTACCTTCTTCCTTCAAACTAGAATCTCCTGAGTAGGGTTGTTTTGGAGGGGAAGGTTAGCATTCCATCGAATAAGGGGAATGTCATTTTATCTTCTCTGCCTGTTTAGGGTGAACCTGGTCCTCTTGGCATTGCCGGCCCTCCTGGGGCCCGTGGTCCTCCTGGTGCTGTGGGTAGTCCTGGAGTCAACGGTGCTCCTGGTGAAGCTGGTCGTGATGTGAGTCCAACACTTGGTTTGTAAAATAAAACTGAGCAGGATTTCATTGTGTGAAACTTTATGTCCTGAGCTGAGGTTCTCTTCTTCCAAAT... | TCACATTCAATTTACCTTCTTCCTTCAAACTAGAATCTCCTGAGTAGGGTTGTTTTGGAGGGGAAGGTTAGCATTCCATCGAATAAGGGGAATGTCATTTTATCTTCTCTGCCTGTTTAGGGTGAACCTGGTCCTCTTGGCATTGCCGGCCCTCCTGGGGCCCGTGGTCCTCCTGGTGCTGTGGGTAGTCCTGGAGTCAACGGTGCTCCTGGTGAAGCTGGTCGTGATGTGAGTCCAACACTTGGTTTGTAAAATAAAACTGAGCAGGATTTCATTGTGTGAAACTTTATGTCCTGAGCTGAGGTTCTCTTCTTCCAAAT... |
Task1_train_11774 | Assess the clinical impact of this variant on gene COL1A2 (collagen type I alpha 2 chain), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Osteogenesis imperfecta type I | CCTGGGGCCCGTGGTCCTCCTGGTGCTGTGGGTAGTCCTGGAGTCAACGGTGCTCCTGGTGAAGCTGGTCGTGATGTGAGTCCAACACTTGGTTTGTAAAATAAAACTGAGCAGGATTTCATTGTGTGAAACTTTATGTCCTGAGCTGAGGTTCTCTTCTTCCAAATTTCTGAACAAGATGGTCAGCTTCTCCATAGTATCTACACCTAGTACTGAAAATATGAAAATTGCTTAGGCCAAAGAATGGGCTTTTCAATAGCACACTGCAAAACTGGGCCCAAGTATTTAAAACATCTCTAAAAAATATCTAGGTTGGCAGG... | CCTGGGGCCCGTGGTCCTCCTGGTGCTGTGGGTAGTCCTGGAGTCAACGGTGCTCCTGGTGAAGCTGGTCGTGATGTGAGTCCAACACTTGGTTTGTAAAATAAAACTGAGCAGGATTTCATTGTGTGAAACTTTATGTCCTGAGCTGAGGTTCTCTTCTTCCAAATTTCTGAACAAGATGGTCAGCTTCTCCATAGTATCTACACCTAGTACTGAAAATATGAAAATTGCTTAGGCCAAAGAATGGGCTTTTCAATAGCACACTGCAAAACTGGGCCCAAGTATTTAAAACATCTCTAAAAAATATCTAGGTTGGCAGG... |
Task1_train_11775 | Given this variant in gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | CCTGGGGCCCGTGGTCCTCCTGGTGCTGTGGGTAGTCCTGGAGTCAACGGTGCTCCTGGTGAAGCTGGTCGTGATGTGAGTCCAACACTTGGTTTGTAAAATAAAACTGAGCAGGATTTCATTGTGTGAAACTTTATGTCCTGAGCTGAGGTTCTCTTCTTCCAAATTTCTGAACAAGATGGTCAGCTTCTCCATAGTATCTACACCTAGTACTGAAAATATGAAAATTGCTTAGGCCAAAGAATGGGCTTTTCAATAGCACACTGCAAAACTGGGCCCAAGTATTTAAAACATCTCTAAAAAATATCTAGGTTGGCAGG... | CCTGGGGCCCGTGGTCCTCCTGGTGCTGTGGGTAGTCCTGGAGTCAACGGTGCTCCTGGTGAAGCTGGTCGTGATGTGAGTCCAACACTTGGTTTGTAAAATAAAACTGAGCAGGATTTCATTGTGTGAAACTTTATGTCCTGAGCTGAGGTTCTCTTCTTCCAAATTTCTGAACAAGATGGTCAGCTTCTCCATAGTATCTACACCTAGTACTGAAAATATGAAAATTGCTTAGGCCAAAGAATGGGCTTTTCAATAGCACACTGCAAAACTGGGCCCAAGTATTTAAAACATCTCTAAAAAATATCTAGGTTGGCAGG... |
Task1_train_11776 | This variant impacts the gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | GTGGGTAGTCCTGGAGTCAACGGTGCTCCTGGTGAAGCTGGTCGTGATGTGAGTCCAACACTTGGTTTGTAAAATAAAACTGAGCAGGATTTCATTGTGTGAAACTTTATGTCCTGAGCTGAGGTTCTCTTCTTCCAAATTTCTGAACAAGATGGTCAGCTTCTCCATAGTATCTACACCTAGTACTGAAAATATGAAAATTGCTTAGGCCAAAGAATGGGCTTTTCAATAGCACACTGCAAAACTGGGCCCAAGTATTTAAAACATCTCTAAAAAATATCTAGGTTGGCAGGTTTTTATCCCTAGTTTTAACAGTCTGA... | GTGGGTAGTCCTGGAGTCAACGGTGCTCCTGGTGAAGCTGGTCGTGATGTGAGTCCAACACTTGGTTTGTAAAATAAAACTGAGCAGGATTTCATTGTGTGAAACTTTATGTCCTGAGCTGAGGTTCTCTTCTTCCAAATTTCTGAACAAGATGGTCAGCTTCTCCATAGTATCTACACCTAGTACTGAAAATATGAAAATTGCTTAGGCCAAAGAATGGGCTTTTCAATAGCACACTGCAAAACTGGGCCCAAGTATTTAAAACATCTCTAAAAAATATCTAGGTTGGCAGGTTTTTATCCCTAGTTTTAACAGTCTGA... |
Task1_train_11777 | Gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | GCTGGTCGTGATGTGAGTCCAACACTTGGTTTGTAAAATAAAACTGAGCAGGATTTCATTGTGTGAAACTTTATGTCCTGAGCTGAGGTTCTCTTCTTCCAAATTTCTGAACAAGATGGTCAGCTTCTCCATAGTATCTACACCTAGTACTGAAAATATGAAAATTGCTTAGGCCAAAGAATGGGCTTTTCAATAGCACACTGCAAAACTGGGCCCAAGTATTTAAAACATCTCTAAAAAATATCTAGGTTGGCAGGTTTTTATCCCTAGTTTTAACAGTCTGAAAGAGGGTTCGTTACTGAGCACTGGAAGTGATGAAG... | GCTGGTCGTGATGTGAGTCCAACACTTGGTTTGTAAAATAAAACTGAGCAGGATTTCATTGTGTGAAACTTTATGTCCTGAGCTGAGGTTCTCTTCTTCCAAATTTCTGAACAAGATGGTCAGCTTCTCCATAGTATCTACACCTAGTACTGAAAATATGAAAATTGCTTAGGCCAAAGAATGGGCTTTTCAATAGCACACTGCAAAACTGGGCCCAAGTATTTAAAACATCTCTAAAAAATATCTAGGTTGGCAGGTTTTTATCCCTAGTTTTAACAGTCTGAAAGAGGGTTCGTTACTGAGCACTGGAAGTGATGAAG... |
Task1_train_11778 | This variant impacts the gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is the change likely to result in a pathogenic outcome? | Pathogenic; Osteogenesis imperfecta type I | GCTGGTCGTGATGTGAGTCCAACACTTGGTTTGTAAAATAAAACTGAGCAGGATTTCATTGTGTGAAACTTTATGTCCTGAGCTGAGGTTCTCTTCTTCCAAATTTCTGAACAAGATGGTCAGCTTCTCCATAGTATCTACACCTAGTACTGAAAATATGAAAATTGCTTAGGCCAAAGAATGGGCTTTTCAATAGCACACTGCAAAACTGGGCCCAAGTATTTAAAACATCTCTAAAAAATATCTAGGTTGGCAGGTTTTTATCCCTAGTTTTAACAGTCTGAAAGAGGGTTCGTTACTGAGCACTGGAAGTGATGAAG... | GCTGGTCGTGATGTGAGTCCAACACTTGGTTTGTAAAATAAAACTGAGCAGGATTTCATTGTGTGAAACTTTATGTCCTGAGCTGAGGTTCTCTTCTTCCAAATTTCTGAACAAGATGGTCAGCTTCTCCATAGTATCTACACCTAGTACTGAAAATATGAAAATTGCTTAGGCCAAAGAATGGGCTTTTCAATAGCACACTGCAAAACTGGGCCCAAGTATTTAAAACATCTCTAAAAAATATCTAGGTTGGCAGGTTTTTATCCCTAGTTTTAACAGTCTGAAAGAGGGTTCGTTACTGAGCACTGGAAGTGATGAAG... |
Task1_train_11779 | A variant found in Chromosome 7 affects COL1A2 (collagen type I alpha 2 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | GGTTTGTAAAATAAAACTGAGCAGGATTTCATTGTGTGAAACTTTATGTCCTGAGCTGAGGTTCTCTTCTTCCAAATTTCTGAACAAGATGGTCAGCTTCTCCATAGTATCTACACCTAGTACTGAAAATATGAAAATTGCTTAGGCCAAAGAATGGGCTTTTCAATAGCACACTGCAAAACTGGGCCCAAGTATTTAAAACATCTCTAAAAAATATCTAGGTTGGCAGGTTTTTATCCCTAGTTTTAACAGTCTGAAAGAGGGTTCGTTACTGAGCACTGGAAGTGATGAAGACAGAGTAGCTACAACATAGGGGCTGG... | GGTTTGTAAAATAAAACTGAGCAGGATTTCATTGTGTGAAACTTTATGTCCTGAGCTGAGGTTCTCTTCTTCCAAATTTCTGAACAAGATGGTCAGCTTCTCCATAGTATCTACACCTAGTACTGAAAATATGAAAATTGCTTAGGCCAAAGAATGGGCTTTTCAATAGCACACTGCAAAACTGGGCCCAAGTATTTAAAACATCTCTAAAAAATATCTAGGTTGGCAGGTTTTTATCCCTAGTTTTAACAGTCTGAAAGAGGGTTCGTTACTGAGCACTGGAAGTGATGAAGACAGAGTAGCTACAACATAGGGGCTGG... |
Task1_train_11780 | A variant found in Chromosome 7 affects COL1A2 (collagen type I alpha 2 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Osteogenesis imperfecta type III | ACAGCCTTAATTTGTGTGGTGTCTTCACAGGGCAACCCTGGGAACGATGGTCCCCCAGGTCGCGATGGTCAACCCGGACACAAGGTCAGTACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTG... | ACAGCCTTAATTTGTGTGGTGTCTTCACAGGGCAACCCTGGGAACGATGGTCCCCCAGGTCGCGATGGTCAACCCGGACACAAGGTCAGTACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTG... |
Task1_train_11781 | Here is a mutation in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | AATTTGTGTGGTGTCTTCACAGGGCAACCCTGGGAACGATGGTCCCCCAGGTCGCGATGGTCAACCCGGACACAAGGTCAGTACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCAC... | AATTTGTGTGGTGTCTTCACAGGGCAACCCTGGGAACGATGGTCCCCCAGGTCGCGATGGTCAACCCGGACACAAGGTCAGTACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCAC... |
Task1_train_11782 | A mutation found in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Osteogenesis imperfecta type I | AATTTGTGTGGTGTCTTCACAGGGCAACCCTGGGAACGATGGTCCCCCAGGTCGCGATGGTCAACCCGGACACAAGGTCAGTACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCAC... | AATTTGTGTGGTGTCTTCACAGGGCAACCCTGGGAACGATGGTCCCCCAGGTCGCGATGGTCAACCCGGACACAAGGTCAGTACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCAC... |
Task1_train_11783 | Mutation context: Chromosome 7, Gene COL1A2 (collagen type I alpha 2 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Ehlers-Danlos syndrome, classic type | GGTGTCTTCACAGGGCAACCCTGGGAACGATGGTCCCCCAGGTCGCGATGGTCAACCCGGACACAAGGTCAGTACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCACTTCTGACTT... | GGTGTCTTCACAGGGCAACCCTGGGAACGATGGTCCCCCAGGTCGCGATGGTCAACCCGGACACAAGGTCAGTACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCACTTCTGACTT... |
Task1_train_11784 | Here’s a variant in COL1A2 (collagen type I alpha 2 chain) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Osteogenesis imperfecta type I | GGTGTCTTCACAGGGCAACCCTGGGAACGATGGTCCCCCAGGTCGCGATGGTCAACCCGGACACAAGGTCAGTACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCACTTCTGACTT... | GGTGTCTTCACAGGGCAACCCTGGGAACGATGGTCCCCCAGGTCGCGATGGTCAACCCGGACACAAGGTCAGTACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCACTTCTGACTT... |
Task1_train_11785 | Consider this mutation in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; Osteogenesis imperfecta type I | GTGTCTTCACAGGGCAACCCTGGGAACGATGGTCCCCCAGGTCGCGATGGTCAACCCGGACACAAGGTCAGTACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCACTTCTGACTTC... | GTGTCTTCACAGGGCAACCCTGGGAACGATGGTCCCCCAGGTCGCGATGGTCAACCCGGACACAAGGTCAGTACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCACTTCTGACTTC... |
Task1_train_11786 | Given a variant located on Chromosome 7 and affecting COL1A2 (collagen type I alpha 2 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | GTGTCTTCACAGGGCAACCCTGGGAACGATGGTCCCCCAGGTCGCGATGGTCAACCCGGACACAAGGTCAGTACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCACTTCTGACTTC... | GTGTCTTCACAGGGCAACCCTGGGAACGATGGTCCCCCAGGTCGCGATGGTCAACCCGGACACAAGGTCAGTACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCACTTCTGACTTC... |
Task1_train_11787 | The gene COL1A2 (collagen type I alpha 2 chain) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | GTGTCTTCACAGGGCAACCCTGGGAACGATGGTCCCCCAGGTCGCGATGGTCAACCCGGACACAAGGTCAGTACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCACTTCTGACTTC... | GTGTCTTCACAGGGCAACCCTGGGAACGATGGTCCCCCAGGTCGCGATGGTCAACCCGGACACAAGGTCAGTACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCACTTCTGACTTC... |
Task1_train_11788 | This genomic variant is located on Chromosome 7, within the COL1A2 (collagen type I alpha 2 chain) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Osteogenesis imperfecta type III | ACAGGGCAACCCTGGGAACGATGGTCCCCCAGGTCGCGATGGTCAACCCGGACACAAGGTCAGTACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCACTTCTGACTTCCCCACACT... | ACAGGGCAACCCTGGGAACGATGGTCCCCCAGGTCGCGATGGTCAACCCGGACACAAGGTCAGTACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCACTTCTGACTTCCCCACACT... |
Task1_train_11789 | The gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Osteogenesis imperfecta, perinatal lethal | CCCTGGGAACGATGGTCCCCCAGGTCGCGATGGTCAACCCGGACACAAGGTCAGTACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCACTTCTGACTTCCCCACACTTGGGGATGG... | CCCTGGGAACGATGGTCCCCCAGGTCGCGATGGTCAACCCGGACACAAGGTCAGTACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCACTTCTGACTTCCCCACACTTGGGGATGG... |
Task1_train_11790 | Here is a genetic alteration in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Osteogenesis imperfecta type I | CCCTGGGAACGATGGTCCCCCAGGTCGCGATGGTCAACCCGGACACAAGGTCAGTACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCACTTCTGACTTCCCCACACTTGGGGATGG... | CCCTGGGAACGATGGTCCCCCAGGTCGCGATGGTCAACCCGGACACAAGGTCAGTACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCACTTCTGACTTCCCCACACTTGGGGATGG... |
Task1_train_11791 | Given this context: Chromosome 7, gene COL1A2 (collagen type I alpha 2 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | CCCTGGGAACGATGGTCCCCCAGGTCGCGATGGTCAACCCGGACACAAGGTCAGTACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCACTTCTGACTTCCCCACACTTGGGGATGG... | CCCTGGGAACGATGGTCCCCCAGGTCGCGATGGTCAACCCGGACACAAGGTCAGTACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCACTTCTGACTTCCCCACACTTGGGGATGG... |
Task1_train_11792 | The gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Osteogenesis imperfecta type I | CCCTGGGAACGATGGTCCCCCAGGTCGCGATGGTCAACCCGGACACAAGGTCAGTACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCACTTCTGACTTCCCCACACTTGGGGATGG... | CCCTGGGAACGATGGTCCCCCAGGTCGCGATGGTCAACCCGGACACAAGGTCAGTACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCACTTCTGACTTCCCCACACTTGGGGATGG... |
Task1_train_11793 | Located on Chromosome 7, this mutation impacts COL1A2 (collagen type I alpha 2 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Osteogenesis imperfecta type I | TACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCACTTCTGACTTCCCCACACTTGGGGATGGTGGAGGAGTGGGGAGGGGTATCTTGGGCCTAGCTAAGTTGTGTTTTTCTTTTTC... | TACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCACTTCTGACTTCCCCACACTTGGGGATGGTGGAGGAGTGGGGAGGGGTATCTTGGGCCTAGCTAAGTTGTGTTTTTCTTTTTC... |
Task1_train_11794 | A variant was discovered on Chromosome 7, affecting COL1A2 (collagen type I alpha 2 chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCACTTCTGACTTCCCCACACTTGGGGATGGTGGAGGAGTGGGGAGGGGTATCTTGGGCCTAGCTAAGTTGTGTTTTTCTTTTTC... | TACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCACTTCTGACTTCCCCACACTTGGGGATGGTGGAGGAGTGGGGAGGGGTATCTTGGGCCTAGCTAAGTTGTGTTTTTCTTTTTC... |
Task1_train_11795 | The variant affects gene COL1A2 (collagen type I alpha 2 chain), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Osteogenesis imperfecta type I | ACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCACTTCTGACTTCCCCACACTTGGGGATGGTGGAGGAGTGGGGAGGGGTATCTTGGGCCTAGCTAAGTTGTGTTTTTCTTTTTCA... | ACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCACTTCTGACTTCCCCACACTTGGGGATGGTGGAGGAGTGGGGAGGGGTATCTTGGGCCTAGCTAAGTTGTGTTTTTCTTTTTCA... |
Task1_train_11796 | The following genetic variant occurs in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | ACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCACTTCTGACTTCCCCACACTTGGGGATGGTGGAGGAGTGGGGAGGGGTATCTTGGGCCTAGCTAAGTTGTGTTTTTCTTTTTCA... | ACACTTTTCATCTTTCTCTAATTCAAAAGTGATTAAAATGCAACCCAGATTGATGCTAAGCTTCATTTTGCCTTTGGTAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGTAAGTTTGTGAATACCAGTCCCTCAGTGCAGCATTCTCGTGGGCTTCACTTCTGACTTCCCCACACTTGGGGATGGTGGAGGAGTGGGGAGGGGTATCTTGGGCCTAGCTAAGTTGTGTTTTTCTTTTTCA... |
Task1_train_11797 | This variant lies on Chromosome 7 and affects the gene COL1A2 (collagen type I alpha 2 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | GCCTAGCTAAACCATTACATGTCCTGAGTTACCTTTGTAAACGAATTAAGCAGTATTTGTGGTGAAGTGAGTGCCATTTTTTTAAAACGGTAAGTCTTATCCATCCTTCTGTTTCTTTATAGGGCCCACAAGGCATTCGTGGCGATAAGGGAGAGCCCGGTGAAAAGGGGCCCAGAGGTCTTCCTGGCTTAAAGGGACACAATGGATTGCAAGGTCTGCCTGGTATCGCTGTAAGTAAACTGTAGCCATCTCGCACATAAACTGATCCTGAAGGCCTTCAGCTCAGAAGGATTTTCATATTTTCACTGCTATTGTTCCAG... | GCCTAGCTAAACCATTACATGTCCTGAGTTACCTTTGTAAACGAATTAAGCAGTATTTGTGGTGAAGTGAGTGCCATTTTTTTAAAACGGTAAGTCTTATCCATCCTTCTGTTTCTTTATAGGGCCCACAAGGCATTCGTGGCGATAAGGGAGAGCCCGGTGAAAAGGGGCCCAGAGGTCTTCCTGGCTTAAAGGGACACAATGGATTGCAAGGTCTGCCTGGTATCGCTGTAAGTAAACTGTAGCCATCTCGCACATAAACTGATCCTGAAGGCCTTCAGCTCAGAAGGATTTTCATATTTTCACTGCTATTGTTCCAG... |
Task1_train_11798 | A mutation found in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Osteogenesis imperfecta type I | GCCTAGCTAAACCATTACATGTCCTGAGTTACCTTTGTAAACGAATTAAGCAGTATTTGTGGTGAAGTGAGTGCCATTTTTTTAAAACGGTAAGTCTTATCCATCCTTCTGTTTCTTTATAGGGCCCACAAGGCATTCGTGGCGATAAGGGAGAGCCCGGTGAAAAGGGGCCCAGAGGTCTTCCTGGCTTAAAGGGACACAATGGATTGCAAGGTCTGCCTGGTATCGCTGTAAGTAAACTGTAGCCATCTCGCACATAAACTGATCCTGAAGGCCTTCAGCTCAGAAGGATTTTCATATTTTCACTGCTATTGTTCCAG... | GCCTAGCTAAACCATTACATGTCCTGAGTTACCTTTGTAAACGAATTAAGCAGTATTTGTGGTGAAGTGAGTGCCATTTTTTTAAAACGGTAAGTCTTATCCATCCTTCTGTTTCTTTATAGGGCCCACAAGGCATTCGTGGCGATAAGGGAGAGCCCGGTGAAAAGGGGCCCAGAGGTCTTCCTGGCTTAAAGGGACACAATGGATTGCAAGGTCTGCCTGGTATCGCTGTAAGTAAACTGTAGCCATCTCGCACATAAACTGATCCTGAAGGCCTTCAGCTCAGAAGGATTTTCATATTTTCACTGCTATTGTTCCAG... |
Task1_train_11799 | A variant was discovered in gene COL1A2 (collagen type I alpha 2 chain), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Osteogenesis imperfecta type I | GTACAGTTGGACCTGCTGGCATTCGAGGCCCTCAGGGTCACCAAGGCCCTGCTGTAAGTATGATTTGGGGAAATAATAAAGAAGATCACGGACCTAAGGAATGTTTTCTTCAGACTAAACCAAGACAACTTTGACAACCCATTAAAGTTAGCCCCATTTCAATATATCCTCTAAAATATCTGGAAATTGTCTATATGCAATGGGCTTGTTAAGTCCATCCCTGCAAGTGTGCCTGGGGGCTCGTTATTTATTTATGTGAACTTGATTATTTTTTACTGATGAGAACATGCTTCCGTGTGAAGCTCAACTGAAAATCTGCT... | GTACAGTTGGACCTGCTGGCATTCGAGGCCCTCAGGGTCACCAAGGCCCTGCTGTAAGTATGATTTGGGGAAATAATAAAGAAGATCACGGACCTAAGGAATGTTTTCTTCAGACTAAACCAAGACAACTTTGACAACCCATTAAAGTTAGCCCCATTTCAATATATCCTCTAAAATATCTGGAAATTGTCTATATGCAATGGGCTTGTTAAGTCCATCCCTGCAAGTGTGCCTGGGGGCTCGTTATTTATTTATGTGAACTTGATTATTTTTTACTGATGAGAACATGCTTCCGTGTGAAGCTCAACTGAAAATCTGCT... |
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