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_11500 | 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; Ehlers-Danlos syndrome, classic type, 1 | ATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCACTACTGTTTAGTTGGAATTAGAAGGCA... | ATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCACTACTGTTTAGTTGGAATTAGAAGGCA... |
Task1_train_11501 | 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 | ATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCACTACTGTTTAGTTGGAATTAGAAGGCA... | ATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCACTACTGTTTAGTTGGAATTAGAAGGCA... |
Task1_train_11502 | 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; Osteogenesis imperfecta type I | ATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCACTACTGTTTAGTTGGAATTAGAAGGCA... | ATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCACTACTGTTTAGTTGGAATTAGAAGGCA... |
Task1_train_11503 | 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 | ATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCACTACTGTTTAGTTGGAATTAGAAGGCA... | ATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCACTACTGTTTAGTTGGAATTAGAAGGCA... |
Task1_train_11504 | 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 | TATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCACTACTGTTTAGTTGGAATTAGAAGGCAA... | TATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCACTACTGTTTAGTTGGAATTAGAAGGCAA... |
Task1_train_11505 | 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 | TATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCACTACTGTTTAGTTGGAATTAGAAGGCAA... | TATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCACTACTGTTTAGTTGGAATTAGAAGGCAA... |
Task1_train_11506 | 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 III | GTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCACTACTGTTTAGTTGGAATTAGAAGGCAACTTATTTA... | GTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCACTACTGTTTAGTTGGAATTAGAAGGCAACTTATTTA... |
Task1_train_11507 | 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 | TGAGAGAGGACGTGTTGGTGCCCCTGGCCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAA... | TGAGAGAGGACGTGTTGGTGCCCCTGGCCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAA... |
Task1_train_11508 | 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 | TGAGAGAGGACGTGTTGGTGCCCCTGGCCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAA... | TGAGAGAGGACGTGTTGGTGCCCCTGGCCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAA... |
Task1_train_11509 | 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; Ehlers-Danlos syndrome, classic type, 1 | TGAGAGAGGACGTGTTGGTGCCCCTGGCCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAA... | TGAGAGAGGACGTGTTGGTGCCCCTGGCCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAA... |
Task1_train_11510 | Here is a variant affecting COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Osteogenesis imperfecta type I | TGAGAGAGGACGTGTTGGTGCCCCTGGCCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAA... | TGAGAGAGGACGTGTTGGTGCCCCTGGCCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAA... |
Task1_train_11511 | The gene COL1A2 (collagen type I alpha 2 chain), on Chromosome 7, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Osteogenesis imperfecta type I | TGAGAGAGGACGTGTTGGTGCCCCTGGCCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAA... | TGAGAGAGGACGTGTTGGTGCCCCTGGCCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAA... |
Task1_train_11512 | 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 | TGAGAGAGGACGTGTTGGTGCCCCTGGCCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAA... | TGAGAGAGGACGTGTTGGTGCCCCTGGCCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAA... |
Task1_train_11513 | 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 | ACGTGTTGGTGCCCCTGGCCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAA... | ACGTGTTGGTGCCCCTGGCCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAA... |
Task1_train_11514 | 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 | ACGTGTTGGTGCCCCTGGCCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAA... | ACGTGTTGGTGCCCCTGGCCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAA... |
Task1_train_11515 | 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 III | CCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTG... | CCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTG... |
Task1_train_11516 | Gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Osteogenesis imperfecta, perinatal lethal | CCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTG... | CCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTG... |
Task1_train_11517 | 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, perinatal lethal | CCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTG... | CCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTG... |
Task1_train_11518 | 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; Osteogenesis imperfecta type III | CCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTG... | CCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTG... |
Task1_train_11519 | 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, cardiac valvular type | CCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTG... | CCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTG... |
Task1_train_11520 | 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 with normal sclerae, dominant form | CCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTG... | CCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTG... |
Task1_train_11521 | 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, arthrochalasia type, 2 | CCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTG... | CCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTG... |
Task1_train_11522 | 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; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | CCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTG... | CCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTG... |
Task1_train_11523 | 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; Osteoporosis | CCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTG... | CCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTG... |
Task1_train_11524 | A variant on Chromosome 7 in gene COL1A2 (collagen type I alpha 2 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Osteogenesis imperfecta type I | CCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTG... | CCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTG... |
Task1_train_11525 | 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; Ehlers-Danlos syndrome, classic type, 1 | CCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTG... | CCCAGCTGTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAGGGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCTGTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTG... |
Task1_train_11526 | 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; Ehlers-Danlos syndrome, classic type, 1 | GTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCT... | GTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCT... |
Task1_train_11527 | 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 type I | GTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCT... | GTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCT... |
Task1_train_11528 | 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; Ehlers-Danlos syndrome, arthrochalasia type, 2 | GTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCT... | GTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCT... |
Task1_train_11529 | This sequence variant lies in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Osteogenesis imperfecta type III | GTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCT... | GTAAGTTTTGACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCT... |
Task1_train_11530 | 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; not provided | GACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATT... | GACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATT... |
Task1_train_11531 | 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 | ACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTG... | ACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTG... |
Task1_train_11532 | 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; Ehlers-Danlos syndrome, classic type, 1 | ACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTG... | ACACTGGGGAGTTTGAAAGGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTG... |
Task1_train_11533 | 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 | GGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTT... | GGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTT... |
Task1_train_11534 | 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 III | GGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTT... | GGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTT... |
Task1_train_11535 | This sequence variant lies in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | GGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTT... | GGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTT... |
Task1_train_11536 | 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; Osteogenesis imperfecta with normal sclerae, dominant form | GGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTT... | GGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTT... |
Task1_train_11537 | 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, cardiac valvular type | GGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTT... | GGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTT... |
Task1_train_11538 | 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, arthrochalasia type, 2 | GGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTT... | GGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTT... |
Task1_train_11539 | 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; Osteoporosis | GGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTT... | GGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTT... |
Task1_train_11540 | 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; Ehlers-Danlos syndrome, classic type, 1 | GGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTT... | GGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTT... |
Task1_train_11541 | 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 | GGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTT... | GGAGTTGAGAATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTT... |
Task1_train_11542 | This sequence variant lies in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Osteoporosis | AATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGG... | AATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGG... |
Task1_train_11543 | 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, arthrochalasia type, 2 | AATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGG... | AATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGG... |
Task1_train_11544 | Consider a variant on Chromosome 7 in gene COL1A2 (collagen type I alpha 2 chain). Determine its clinical classification and disease relevance. | Pathogenic; Osteogenesis imperfecta, perinatal lethal | AATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGG... | AATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGG... |
Task1_train_11545 | 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 III | AATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGG... | AATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGG... |
Task1_train_11546 | A genetic alteration is present in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Ehlers-Danlos syndrome, cardiac valvular type | AATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGG... | AATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGG... |
Task1_train_11547 | 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; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | AATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGG... | AATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGG... |
Task1_train_11548 | 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 with normal sclerae, dominant form | AATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGG... | AATGTGGGGTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGG... |
Task1_train_11549 | 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 | GTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCT... | GTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCT... |
Task1_train_11550 | 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 | GTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCT... | GTGGGTGCTGTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCT... |
Task1_train_11551 | 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 | GTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTT... | GTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTT... |
Task1_train_11552 | Gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | GTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTT... | GTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTT... |
Task1_train_11553 | 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; Osteogenesis imperfecta type I | GTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTT... | GTCTTCTTCATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTT... |
Task1_train_11554 | 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 III | ATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGA... | ATTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGA... |
Task1_train_11555 | 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, perinatal lethal | TTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGAT... | TTAATCTCTTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGAT... |
Task1_train_11556 | 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 | TTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGT... | TTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGT... |
Task1_train_11557 | 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 type I | TTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGT... | TTACGAAATAGCATCATTTCAGACACTTTACCAAATGTTCTGTGAGGTCTTTTGAAGGCTCCATTTATAAGTAGTGTAAGCCATTTATAAGTACCTGAACTTTTGATTGATGTATAAAGCAAAATATCCCCACCCTGGATACCATGAATGTCTTGCCTTTGATGAGATCCTAACGACAACAGACTGGTTGTCAGTTTTTTTCTTTACTAATATAAACAGTGTCATGCCACTGTAAGCAACTTCAATCTTCTGCCATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGT... |
Task1_train_11558 | 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; Osteogenesis imperfecta | TACTTTGATAAACTTTTTACTGTGATGTGAAAGATTGGAACTGTGTTTGCAGATAAAGAGATAATTACGAAACAGTTACCTTAATTATTCCTTCCCTTCAAAATGGACATAGAATGACCAGTTTTCTCACTCTACATTTGAAATAGATCATTTCTCTGCACTGTGCACTGTGCCCATCGATATAGATGACAACATGGAAATTGTCTCTAGGACTAGTTAGTTAGGACTGACTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGA... | TACTTTGATAAACTTTTTACTGTGATGTGAAAGATTGGAACTGTGTTTGCAGATAAAGAGATAATTACGAAACAGTTACCTTAATTATTCCTTCCCTTCAAAATGGACATAGAATGACCAGTTTTCTCACTCTACATTTGAAATAGATCATTTCTCTGCACTGTGCACTGTGCCCATCGATATAGATGACAACATGGAAATTGTCTCTAGGACTAGTTAGTTAGGACTGACTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGA... |
Task1_train_11559 | 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, perinatal lethal | TACTTTGATAAACTTTTTACTGTGATGTGAAAGATTGGAACTGTGTTTGCAGATAAAGAGATAATTACGAAACAGTTACCTTAATTATTCCTTCCCTTCAAAATGGACATAGAATGACCAGTTTTCTCACTCTACATTTGAAATAGATCATTTCTCTGCACTGTGCACTGTGCCCATCGATATAGATGACAACATGGAAATTGTCTCTAGGACTAGTTAGTTAGGACTGACTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGA... | TACTTTGATAAACTTTTTACTGTGATGTGAAAGATTGGAACTGTGTTTGCAGATAAAGAGATAATTACGAAACAGTTACCTTAATTATTCCTTCCCTTCAAAATGGACATAGAATGACCAGTTTTCTCACTCTACATTTGAAATAGATCATTTCTCTGCACTGTGCACTGTGCCCATCGATATAGATGACAACATGGAAATTGTCTCTAGGACTAGTTAGTTAGGACTGACTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGA... |
Task1_train_11560 | 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 | AAACTTTTTACTGTGATGTGAAAGATTGGAACTGTGTTTGCAGATAAAGAGATAATTACGAAACAGTTACCTTAATTATTCCTTCCCTTCAAAATGGACATAGAATGACCAGTTTTCTCACTCTACATTTGAAATAGATCATTTCTCTGCACTGTGCACTGTGCCCATCGATATAGATGACAACATGGAAATTGTCTCTAGGACTAGTTAGTTAGGACTGACTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGAAACCAAACT... | AAACTTTTTACTGTGATGTGAAAGATTGGAACTGTGTTTGCAGATAAAGAGATAATTACGAAACAGTTACCTTAATTATTCCTTCCCTTCAAAATGGACATAGAATGACCAGTTTTCTCACTCTACATTTGAAATAGATCATTTCTCTGCACTGTGCACTGTGCCCATCGATATAGATGACAACATGGAAATTGTCTCTAGGACTAGTTAGTTAGGACTGACTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGAAACCAAACT... |
Task1_train_11561 | 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; Osteogenesis imperfecta type I | AAACTTTTTACTGTGATGTGAAAGATTGGAACTGTGTTTGCAGATAAAGAGATAATTACGAAACAGTTACCTTAATTATTCCTTCCCTTCAAAATGGACATAGAATGACCAGTTTTCTCACTCTACATTTGAAATAGATCATTTCTCTGCACTGTGCACTGTGCCCATCGATATAGATGACAACATGGAAATTGTCTCTAGGACTAGTTAGTTAGGACTGACTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGAAACCAAACT... | AAACTTTTTACTGTGATGTGAAAGATTGGAACTGTGTTTGCAGATAAAGAGATAATTACGAAACAGTTACCTTAATTATTCCTTCCCTTCAAAATGGACATAGAATGACCAGTTTTCTCACTCTACATTTGAAATAGATCATTTCTCTGCACTGTGCACTGTGCCCATCGATATAGATGACAACATGGAAATTGTCTCTAGGACTAGTTAGTTAGGACTGACTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGAAACCAAACT... |
Task1_train_11562 | 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; not provided | CACTGTGCACTGTGCCCATCGATATAGATGACAACATGGAAATTGTCTCTAGGACTAGTTAGTTAGGACTGACTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGAAACCAAACTCAAATCTTGTAATAAAACGGATAAGAAAAATAATTGCAATTTTGAAGTTTTATGAAGACATTTCATAAAACTTGGCATCTTAAAAACAGATATGCTGTTTCATTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAA... | CACTGTGCACTGTGCCCATCGATATAGATGACAACATGGAAATTGTCTCTAGGACTAGTTAGTTAGGACTGACTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGAAACCAAACTCAAATCTTGTAATAAAACGGATAAGAAAAATAATTGCAATTTTGAAGTTTTATGAAGACATTTCATAAAACTTGGCATCTTAAAAACAGATATGCTGTTTCATTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAA... |
Task1_train_11563 | 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, perinatal lethal | TGTGCCCATCGATATAGATGACAACATGGAAATTGTCTCTAGGACTAGTTAGTTAGGACTGACTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGAAACCAAACTCAAATCTTGTAATAAAACGGATAAGAAAAATAATTGCAATTTTGAAGTTTTATGAAGACATTTCATAAAACTTGGCATCTTAAAAACAGATATGCTGTTTCATTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTG... | TGTGCCCATCGATATAGATGACAACATGGAAATTGTCTCTAGGACTAGTTAGTTAGGACTGACTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGAAACCAAACTCAAATCTTGTAATAAAACGGATAAGAAAAATAATTGCAATTTTGAAGTTTTATGAAGACATTTCATAAAACTTGGCATCTTAAAAACAGATATGCTGTTTCATTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTG... |
Task1_train_11564 | 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; Osteogenesis imperfecta type I | TCGATATAGATGACAACATGGAAATTGTCTCTAGGACTAGTTAGTTAGGACTGACTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGAAACCAAACTCAAATCTTGTAATAAAACGGATAAGAAAAATAATTGCAATTTTGAAGTTTTATGAAGACATTTCATAAAACTTGGCATCTTAAAAACAGATATGCTGTTTCATTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAAC... | TCGATATAGATGACAACATGGAAATTGTCTCTAGGACTAGTTAGTTAGGACTGACTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGAAACCAAACTCAAATCTTGTAATAAAACGGATAAGAAAAATAATTGCAATTTTGAAGTTTTATGAAGACATTTCATAAAACTTGGCATCTTAAAAACAGATATGCTGTTTCATTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAAC... |
Task1_train_11565 | 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; Ehlers-Danlos syndrome, classic type, 1 | TCGATATAGATGACAACATGGAAATTGTCTCTAGGACTAGTTAGTTAGGACTGACTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGAAACCAAACTCAAATCTTGTAATAAAACGGATAAGAAAAATAATTGCAATTTTGAAGTTTTATGAAGACATTTCATAAAACTTGGCATCTTAAAAACAGATATGCTGTTTCATTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAAC... | TCGATATAGATGACAACATGGAAATTGTCTCTAGGACTAGTTAGTTAGGACTGACTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGAAACCAAACTCAAATCTTGTAATAAAACGGATAAGAAAAATAATTGCAATTTTGAAGTTTTATGAAGACATTTCATAAAACTTGGCATCTTAAAAACAGATATGCTGTTTCATTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAAC... |
Task1_train_11566 | 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 | GGAAATTGTCTCTAGGACTAGTTAGTTAGGACTGACTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGAAACCAAACTCAAATCTTGTAATAAAACGGATAAGAAAAATAATTGCAATTTTGAAGTTTTATGAAGACATTTCATAAAACTTGGCATCTTAAAAACAGATATGCTGTTTCATTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCG... | GGAAATTGTCTCTAGGACTAGTTAGTTAGGACTGACTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGAAACCAAACTCAAATCTTGTAATAAAACGGATAAGAAAAATAATTGCAATTTTGAAGTTTTATGAAGACATTTCATAAAACTTGGCATCTTAAAAACAGATATGCTGTTTCATTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCG... |
Task1_train_11567 | 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; Osteogenesis imperfecta type I | GGAAATTGTCTCTAGGACTAGTTAGTTAGGACTGACTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGAAACCAAACTCAAATCTTGTAATAAAACGGATAAGAAAAATAATTGCAATTTTGAAGTTTTATGAAGACATTTCATAAAACTTGGCATCTTAAAAACAGATATGCTGTTTCATTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCG... | GGAAATTGTCTCTAGGACTAGTTAGTTAGGACTGACTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGAAACCAAACTCAAATCTTGTAATAAAACGGATAAGAAAAATAATTGCAATTTTGAAGTTTTATGAAGACATTTCATAAAACTTGGCATCTTAAAAACAGATATGCTGTTTCATTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCG... |
Task1_train_11568 | 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 | TAGGACTGACTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGAAACCAAACTCAAATCTTGTAATAAAACGGATAAGAAAAATAATTGCAATTTTGAAGTTTTATGAAGACATTTCATAAAACTTGGCATCTTAAAAACAGATATGCTGTTTCATTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTT... | TAGGACTGACTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGAAACCAAACTCAAATCTTGTAATAAAACGGATAAGAAAAATAATTGCAATTTTGAAGTTTTATGAAGACATTTCATAAAACTTGGCATCTTAAAAACAGATATGCTGTTTCATTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTT... |
Task1_train_11569 | 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 | AGGACTGACTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGAAACCAAACTCAAATCTTGTAATAAAACGGATAAGAAAAATAATTGCAATTTTGAAGTTTTATGAAGACATTTCATAAAACTTGGCATCTTAAAAACAGATATGCTGTTTCATTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTC... | AGGACTGACTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGAAACCAAACTCAAATCTTGTAATAAAACGGATAAGAAAAATAATTGCAATTTTGAAGTTTTATGAAGACATTTCATAAAACTTGGCATCTTAAAAACAGATATGCTGTTTCATTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTC... |
Task1_train_11570 | 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 | CTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGAAACCAAACTCAAATCTTGTAATAAAACGGATAAGAAAAATAATTGCAATTTTGAAGTTTTATGAAGACATTTCATAAAACTTGGCATCTTAAAAACAGATATGCTGTTTCATTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTC... | CTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGAAACCAAACTCAAATCTTGTAATAAAACGGATAAGAAAAATAATTGCAATTTTGAAGTTTTATGAAGACATTTCATAAAACTTGGCATCTTAAAAACAGATATGCTGTTTCATTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTC... |
Task1_train_11571 | 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 | CTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGAAACCAAACTCAAATCTTGTAATAAAACGGATAAGAAAAATAATTGCAATTTTGAAGTTTTATGAAGACATTTCATAAAACTTGGCATCTTAAAAACAGATATGCTGTTTCATTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTC... | CTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGAAACCAAACTCAAATCTTGTAATAAAACGGATAAGAAAAATAATTGCAATTTTGAAGTTTTATGAAGACATTTCATAAAACTTGGCATCTTAAAAACAGATATGCTGTTTCATTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTC... |
Task1_train_11572 | 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 with normal sclerae, dominant form | TCATTACCTCAAGGTAAATGAGGCAAAGTTCTACAATATCAGTTTTGTCCCTTCGACCAATAATACCATTCCCCTGTACTCAATTTAAATATGAACAGGGTACATTTCCTAGAGAACTTGAGCTTCTCTTTACCTTGACCCACAAATATTCTAAGAGATTTGTCTGCAAGAGAGTTTCAACAAATGTTTGTCCTTTGACCACTGTTCTGTATTGAACCCTAGGGTGAGCCTGGTCCAGCTGGCTCCAAAGGAGAGAGCGGTAACAAGGGTGAGCCCGTAAGTAGCTCTATCATCACACTTTTATAAAGTTAATTGTTTTT... | TCATTACCTCAAGGTAAATGAGGCAAAGTTCTACAATATCAGTTTTGTCCCTTCGACCAATAATACCATTCCCCTGTACTCAATTTAAATATGAACAGGGTACATTTCCTAGAGAACTTGAGCTTCTCTTTACCTTGACCCACAAATATTCTAAGAGATTTGTCTGCAAGAGAGTTTCAACAAATGTTTGTCCTTTGACCACTGTTCTGTATTGAACCCTAGGGTGAGCCTGGTCCAGCTGGCTCCAAAGGAGAGAGCGGTAACAAGGGTGAGCCCGTAAGTAGCTCTATCATCACACTTTTATAAAGTTAATTGTTTTT... |
Task1_train_11573 | 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 | CATTACCTCAAGGTAAATGAGGCAAAGTTCTACAATATCAGTTTTGTCCCTTCGACCAATAATACCATTCCCCTGTACTCAATTTAAATATGAACAGGGTACATTTCCTAGAGAACTTGAGCTTCTCTTTACCTTGACCCACAAATATTCTAAGAGATTTGTCTGCAAGAGAGTTTCAACAAATGTTTGTCCTTTGACCACTGTTCTGTATTGAACCCTAGGGTGAGCCTGGTCCAGCTGGCTCCAAAGGAGAGAGCGGTAACAAGGGTGAGCCCGTAAGTAGCTCTATCATCACACTTTTATAAAGTTAATTGTTTTTC... | CATTACCTCAAGGTAAATGAGGCAAAGTTCTACAATATCAGTTTTGTCCCTTCGACCAATAATACCATTCCCCTGTACTCAATTTAAATATGAACAGGGTACATTTCCTAGAGAACTTGAGCTTCTCTTTACCTTGACCCACAAATATTCTAAGAGATTTGTCTGCAAGAGAGTTTCAACAAATGTTTGTCCTTTGACCACTGTTCTGTATTGAACCCTAGGGTGAGCCTGGTCCAGCTGGCTCCAAAGGAGAGAGCGGTAACAAGGGTGAGCCCGTAAGTAGCTCTATCATCACACTTTTATAAAGTTAATTGTTTTTC... |
Task1_train_11574 | Consider a variant on Chromosome 7 in gene COL1A2 (collagen type I alpha 2 chain). Determine its clinical classification and disease relevance. | Pathogenic; Osteogenesis imperfecta, perinatal lethal | CAAGGTAAATGAGGCAAAGTTCTACAATATCAGTTTTGTCCCTTCGACCAATAATACCATTCCCCTGTACTCAATTTAAATATGAACAGGGTACATTTCCTAGAGAACTTGAGCTTCTCTTTACCTTGACCCACAAATATTCTAAGAGATTTGTCTGCAAGAGAGTTTCAACAAATGTTTGTCCTTTGACCACTGTTCTGTATTGAACCCTAGGGTGAGCCTGGTCCAGCTGGCTCCAAAGGAGAGAGCGGTAACAAGGGTGAGCCCGTAAGTAGCTCTATCATCACACTTTTATAAAGTTAATTGTTTTTCTCATTCCA... | CAAGGTAAATGAGGCAAAGTTCTACAATATCAGTTTTGTCCCTTCGACCAATAATACCATTCCCCTGTACTCAATTTAAATATGAACAGGGTACATTTCCTAGAGAACTTGAGCTTCTCTTTACCTTGACCCACAAATATTCTAAGAGATTTGTCTGCAAGAGAGTTTCAACAAATGTTTGTCCTTTGACCACTGTTCTGTATTGAACCCTAGGGTGAGCCTGGTCCAGCTGGCTCCAAAGGAGAGAGCGGTAACAAGGGTGAGCCCGTAAGTAGCTCTATCATCACACTTTTATAAAGTTAATTGTTTTTCTCATTCCA... |
Task1_train_11575 | 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; Inborn genetic diseases | AAGGTAAATGAGGCAAAGTTCTACAATATCAGTTTTGTCCCTTCGACCAATAATACCATTCCCCTGTACTCAATTTAAATATGAACAGGGTACATTTCCTAGAGAACTTGAGCTTCTCTTTACCTTGACCCACAAATATTCTAAGAGATTTGTCTGCAAGAGAGTTTCAACAAATGTTTGTCCTTTGACCACTGTTCTGTATTGAACCCTAGGGTGAGCCTGGTCCAGCTGGCTCCAAAGGAGAGAGCGGTAACAAGGGTGAGCCCGTAAGTAGCTCTATCATCACACTTTTATAAAGTTAATTGTTTTTCTCATTCCAG... | AAGGTAAATGAGGCAAAGTTCTACAATATCAGTTTTGTCCCTTCGACCAATAATACCATTCCCCTGTACTCAATTTAAATATGAACAGGGTACATTTCCTAGAGAACTTGAGCTTCTCTTTACCTTGACCCACAAATATTCTAAGAGATTTGTCTGCAAGAGAGTTTCAACAAATGTTTGTCCTTTGACCACTGTTCTGTATTGAACCCTAGGGTGAGCCTGGTCCAGCTGGCTCCAAAGGAGAGAGCGGTAACAAGGGTGAGCCCGTAAGTAGCTCTATCATCACACTTTTATAAAGTTAATTGTTTTTCTCATTCCAG... |
Task1_train_11576 | Here is a variant affecting COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Osteogenesis imperfecta, perinatal lethal | GTTCTACAATATCAGTTTTGTCCCTTCGACCAATAATACCATTCCCCTGTACTCAATTTAAATATGAACAGGGTACATTTCCTAGAGAACTTGAGCTTCTCTTTACCTTGACCCACAAATATTCTAAGAGATTTGTCTGCAAGAGAGTTTCAACAAATGTTTGTCCTTTGACCACTGTTCTGTATTGAACCCTAGGGTGAGCCTGGTCCAGCTGGCTCCAAAGGAGAGAGCGGTAACAAGGGTGAGCCCGTAAGTAGCTCTATCATCACACTTTTATAAAGTTAATTGTTTTTCTCATTCCAGTTTCTCCAGCTGGACAT... | GTTCTACAATATCAGTTTTGTCCCTTCGACCAATAATACCATTCCCCTGTACTCAATTTAAATATGAACAGGGTACATTTCCTAGAGAACTTGAGCTTCTCTTTACCTTGACCCACAAATATTCTAAGAGATTTGTCTGCAAGAGAGTTTCAACAAATGTTTGTCCTTTGACCACTGTTCTGTATTGAACCCTAGGGTGAGCCTGGTCCAGCTGGCTCCAAAGGAGAGAGCGGTAACAAGGGTGAGCCCGTAAGTAGCTCTATCATCACACTTTTATAAAGTTAATTGTTTTTCTCATTCCAGTTTCTCCAGCTGGACAT... |
Task1_train_11577 | 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 | GTTCTACAATATCAGTTTTGTCCCTTCGACCAATAATACCATTCCCCTGTACTCAATTTAAATATGAACAGGGTACATTTCCTAGAGAACTTGAGCTTCTCTTTACCTTGACCCACAAATATTCTAAGAGATTTGTCTGCAAGAGAGTTTCAACAAATGTTTGTCCTTTGACCACTGTTCTGTATTGAACCCTAGGGTGAGCCTGGTCCAGCTGGCTCCAAAGGAGAGAGCGGTAACAAGGGTGAGCCCGTAAGTAGCTCTATCATCACACTTTTATAAAGTTAATTGTTTTTCTCATTCCAGTTTCTCCAGCTGGACAT... | GTTCTACAATATCAGTTTTGTCCCTTCGACCAATAATACCATTCCCCTGTACTCAATTTAAATATGAACAGGGTACATTTCCTAGAGAACTTGAGCTTCTCTTTACCTTGACCCACAAATATTCTAAGAGATTTGTCTGCAAGAGAGTTTCAACAAATGTTTGTCCTTTGACCACTGTTCTGTATTGAACCCTAGGGTGAGCCTGGTCCAGCTGGCTCCAAAGGAGAGAGCGGTAACAAGGGTGAGCCCGTAAGTAGCTCTATCATCACACTTTTATAAAGTTAATTGTTTTTCTCATTCCAGTTTCTCCAGCTGGACAT... |
Task1_train_11578 | 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 | GTTCTACAATATCAGTTTTGTCCCTTCGACCAATAATACCATTCCCCTGTACTCAATTTAAATATGAACAGGGTACATTTCCTAGAGAACTTGAGCTTCTCTTTACCTTGACCCACAAATATTCTAAGAGATTTGTCTGCAAGAGAGTTTCAACAAATGTTTGTCCTTTGACCACTGTTCTGTATTGAACCCTAGGGTGAGCCTGGTCCAGCTGGCTCCAAAGGAGAGAGCGGTAACAAGGGTGAGCCCGTAAGTAGCTCTATCATCACACTTTTATAAAGTTAATTGTTTTTCTCATTCCAGTTTCTCCAGCTGGACAT... | GTTCTACAATATCAGTTTTGTCCCTTCGACCAATAATACCATTCCCCTGTACTCAATTTAAATATGAACAGGGTACATTTCCTAGAGAACTTGAGCTTCTCTTTACCTTGACCCACAAATATTCTAAGAGATTTGTCTGCAAGAGAGTTTCAACAAATGTTTGTCCTTTGACCACTGTTCTGTATTGAACCCTAGGGTGAGCCTGGTCCAGCTGGCTCCAAAGGAGAGAGCGGTAACAAGGGTGAGCCCGTAAGTAGCTCTATCATCACACTTTTATAAAGTTAATTGTTTTTCTCATTCCAGTTTCTCCAGCTGGACAT... |
Task1_train_11579 | 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 | ATCAGTTTTGTCCCTTCGACCAATAATACCATTCCCCTGTACTCAATTTAAATATGAACAGGGTACATTTCCTAGAGAACTTGAGCTTCTCTTTACCTTGACCCACAAATATTCTAAGAGATTTGTCTGCAAGAGAGTTTCAACAAATGTTTGTCCTTTGACCACTGTTCTGTATTGAACCCTAGGGTGAGCCTGGTCCAGCTGGCTCCAAAGGAGAGAGCGGTAACAAGGGTGAGCCCGTAAGTAGCTCTATCATCACACTTTTATAAAGTTAATTGTTTTTCTCATTCCAGTTTCTCCAGCTGGACATAGTATTAAAA... | ATCAGTTTTGTCCCTTCGACCAATAATACCATTCCCCTGTACTCAATTTAAATATGAACAGGGTACATTTCCTAGAGAACTTGAGCTTCTCTTTACCTTGACCCACAAATATTCTAAGAGATTTGTCTGCAAGAGAGTTTCAACAAATGTTTGTCCTTTGACCACTGTTCTGTATTGAACCCTAGGGTGAGCCTGGTCCAGCTGGCTCCAAAGGAGAGAGCGGTAACAAGGGTGAGCCCGTAAGTAGCTCTATCATCACACTTTTATAAAGTTAATTGTTTTTCTCATTCCAGTTTCTCCAGCTGGACATAGTATTAAAA... |
Task1_train_11580 | 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; Ehlers-Danlos syndrome, classic type, 1 | ATCAGTTTTGTCCCTTCGACCAATAATACCATTCCCCTGTACTCAATTTAAATATGAACAGGGTACATTTCCTAGAGAACTTGAGCTTCTCTTTACCTTGACCCACAAATATTCTAAGAGATTTGTCTGCAAGAGAGTTTCAACAAATGTTTGTCCTTTGACCACTGTTCTGTATTGAACCCTAGGGTGAGCCTGGTCCAGCTGGCTCCAAAGGAGAGAGCGGTAACAAGGGTGAGCCCGTAAGTAGCTCTATCATCACACTTTTATAAAGTTAATTGTTTTTCTCATTCCAGTTTCTCCAGCTGGACATAGTATTAAAA... | ATCAGTTTTGTCCCTTCGACCAATAATACCATTCCCCTGTACTCAATTTAAATATGAACAGGGTACATTTCCTAGAGAACTTGAGCTTCTCTTTACCTTGACCCACAAATATTCTAAGAGATTTGTCTGCAAGAGAGTTTCAACAAATGTTTGTCCTTTGACCACTGTTCTGTATTGAACCCTAGGGTGAGCCTGGTCCAGCTGGCTCCAAAGGAGAGAGCGGTAACAAGGGTGAGCCCGTAAGTAGCTCTATCATCACACTTTTATAAAGTTAATTGTTTTTCTCATTCCAGTTTCTCCAGCTGGACATAGTATTAAAA... |
Task1_train_11581 | 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 with normal sclerae, dominant form | AAATGCTCCCAACACCCTAACACACCAGAGGCAGATTATGATACCCCTTCACTGGGAATTGGTCAAAATTACTGACTGTGTTTTCTTAGGCAAAAAAAGCATCTGCTTTCCATCTGCCTTATTAAATCAGTGACTCTCAATTTAATATGTTATAAAATTGGCCTGGAAACAATGTTGACCTACTTTTGCAGGATGCTCATCTATGAATTCCTCTAGGGGTTGGGTGAAGTGTTTTGGCTTGGTTTGTGTCTGTATCTCCCCTGTAAGGAGATCATGCTATTTTTTACAAACTCTACCTTATCAAAGCCAAGAGATTTCTT... | AAATGCTCCCAACACCCTAACACACCAGAGGCAGATTATGATACCCCTTCACTGGGAATTGGTCAAAATTACTGACTGTGTTTTCTTAGGCAAAAAAAGCATCTGCTTTCCATCTGCCTTATTAAATCAGTGACTCTCAATTTAATATGTTATAAAATTGGCCTGGAAACAATGTTGACCTACTTTTGCAGGATGCTCATCTATGAATTCCTCTAGGGGTTGGGTGAAGTGTTTTGGCTTGGTTTGTGTCTGTATCTCCCCTGTAAGGAGATCATGCTATTTTTTACAAACTCTACCTTATCAAAGCCAAGAGATTTCTT... |
Task1_train_11582 | 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 | AAATGCTCCCAACACCCTAACACACCAGAGGCAGATTATGATACCCCTTCACTGGGAATTGGTCAAAATTACTGACTGTGTTTTCTTAGGCAAAAAAAGCATCTGCTTTCCATCTGCCTTATTAAATCAGTGACTCTCAATTTAATATGTTATAAAATTGGCCTGGAAACAATGTTGACCTACTTTTGCAGGATGCTCATCTATGAATTCCTCTAGGGGTTGGGTGAAGTGTTTTGGCTTGGTTTGTGTCTGTATCTCCCCTGTAAGGAGATCATGCTATTTTTTACAAACTCTACCTTATCAAAGCCAAGAGATTTCTT... | AAATGCTCCCAACACCCTAACACACCAGAGGCAGATTATGATACCCCTTCACTGGGAATTGGTCAAAATTACTGACTGTGTTTTCTTAGGCAAAAAAAGCATCTGCTTTCCATCTGCCTTATTAAATCAGTGACTCTCAATTTAATATGTTATAAAATTGGCCTGGAAACAATGTTGACCTACTTTTGCAGGATGCTCATCTATGAATTCCTCTAGGGGTTGGGTGAAGTGTTTTGGCTTGGTTTGTGTCTGTATCTCCCCTGTAAGGAGATCATGCTATTTTTTACAAACTCTACCTTATCAAAGCCAAGAGATTTCTT... |
Task1_train_11583 | 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; Ehlers-Danlos syndrome, classic type, 1 | AAATGCTCCCAACACCCTAACACACCAGAGGCAGATTATGATACCCCTTCACTGGGAATTGGTCAAAATTACTGACTGTGTTTTCTTAGGCAAAAAAAGCATCTGCTTTCCATCTGCCTTATTAAATCAGTGACTCTCAATTTAATATGTTATAAAATTGGCCTGGAAACAATGTTGACCTACTTTTGCAGGATGCTCATCTATGAATTCCTCTAGGGGTTGGGTGAAGTGTTTTGGCTTGGTTTGTGTCTGTATCTCCCCTGTAAGGAGATCATGCTATTTTTTACAAACTCTACCTTATCAAAGCCAAGAGATTTCTT... | AAATGCTCCCAACACCCTAACACACCAGAGGCAGATTATGATACCCCTTCACTGGGAATTGGTCAAAATTACTGACTGTGTTTTCTTAGGCAAAAAAAGCATCTGCTTTCCATCTGCCTTATTAAATCAGTGACTCTCAATTTAATATGTTATAAAATTGGCCTGGAAACAATGTTGACCTACTTTTGCAGGATGCTCATCTATGAATTCCTCTAGGGGTTGGGTGAAGTGTTTTGGCTTGGTTTGTGTCTGTATCTCCCCTGTAAGGAGATCATGCTATTTTTTACAAACTCTACCTTATCAAAGCCAAGAGATTTCTT... |
Task1_train_11584 | 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; Osteogenesis imperfecta | CCAACACCCTAACACACCAGAGGCAGATTATGATACCCCTTCACTGGGAATTGGTCAAAATTACTGACTGTGTTTTCTTAGGCAAAAAAAGCATCTGCTTTCCATCTGCCTTATTAAATCAGTGACTCTCAATTTAATATGTTATAAAATTGGCCTGGAAACAATGTTGACCTACTTTTGCAGGATGCTCATCTATGAATTCCTCTAGGGGTTGGGTGAAGTGTTTTGGCTTGGTTTGTGTCTGTATCTCCCCTGTAAGGAGATCATGCTATTTTTTACAAACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTC... | CCAACACCCTAACACACCAGAGGCAGATTATGATACCCCTTCACTGGGAATTGGTCAAAATTACTGACTGTGTTTTCTTAGGCAAAAAAAGCATCTGCTTTCCATCTGCCTTATTAAATCAGTGACTCTCAATTTAATATGTTATAAAATTGGCCTGGAAACAATGTTGACCTACTTTTGCAGGATGCTCATCTATGAATTCCTCTAGGGGTTGGGTGAAGTGTTTTGGCTTGGTTTGTGTCTGTATCTCCCCTGTAAGGAGATCATGCTATTTTTTACAAACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTC... |
Task1_train_11585 | 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; Osteogenesis imperfecta, perinatal lethal | CCAACACCCTAACACACCAGAGGCAGATTATGATACCCCTTCACTGGGAATTGGTCAAAATTACTGACTGTGTTTTCTTAGGCAAAAAAAGCATCTGCTTTCCATCTGCCTTATTAAATCAGTGACTCTCAATTTAATATGTTATAAAATTGGCCTGGAAACAATGTTGACCTACTTTTGCAGGATGCTCATCTATGAATTCCTCTAGGGGTTGGGTGAAGTGTTTTGGCTTGGTTTGTGTCTGTATCTCCCCTGTAAGGAGATCATGCTATTTTTTACAAACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTC... | CCAACACCCTAACACACCAGAGGCAGATTATGATACCCCTTCACTGGGAATTGGTCAAAATTACTGACTGTGTTTTCTTAGGCAAAAAAAGCATCTGCTTTCCATCTGCCTTATTAAATCAGTGACTCTCAATTTAATATGTTATAAAATTGGCCTGGAAACAATGTTGACCTACTTTTGCAGGATGCTCATCTATGAATTCCTCTAGGGGTTGGGTGAAGTGTTTTGGCTTGGTTTGTGTCTGTATCTCCCCTGTAAGGAGATCATGCTATTTTTTACAAACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTC... |
Task1_train_11586 | 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 | TTATGATACCCCTTCACTGGGAATTGGTCAAAATTACTGACTGTGTTTTCTTAGGCAAAAAAAGCATCTGCTTTCCATCTGCCTTATTAAATCAGTGACTCTCAATTTAATATGTTATAAAATTGGCCTGGAAACAATGTTGACCTACTTTTGCAGGATGCTCATCTATGAATTCCTCTAGGGGTTGGGTGAAGTGTTTTGGCTTGGTTTGTGTCTGTATCTCCCCTGTAAGGAGATCATGCTATTTTTTACAAACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGT... | TTATGATACCCCTTCACTGGGAATTGGTCAAAATTACTGACTGTGTTTTCTTAGGCAAAAAAAGCATCTGCTTTCCATCTGCCTTATTAAATCAGTGACTCTCAATTTAATATGTTATAAAATTGGCCTGGAAACAATGTTGACCTACTTTTGCAGGATGCTCATCTATGAATTCCTCTAGGGGTTGGGTGAAGTGTTTTGGCTTGGTTTGTGTCTGTATCTCCCCTGTAAGGAGATCATGCTATTTTTTACAAACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGT... |
Task1_train_11587 | A variant on Chromosome 7 in gene COL1A2 (collagen type I alpha 2 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TTATGATACCCCTTCACTGGGAATTGGTCAAAATTACTGACTGTGTTTTCTTAGGCAAAAAAAGCATCTGCTTTCCATCTGCCTTATTAAATCAGTGACTCTCAATTTAATATGTTATAAAATTGGCCTGGAAACAATGTTGACCTACTTTTGCAGGATGCTCATCTATGAATTCCTCTAGGGGTTGGGTGAAGTGTTTTGGCTTGGTTTGTGTCTGTATCTCCCCTGTAAGGAGATCATGCTATTTTTTACAAACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGT... | TTATGATACCCCTTCACTGGGAATTGGTCAAAATTACTGACTGTGTTTTCTTAGGCAAAAAAAGCATCTGCTTTCCATCTGCCTTATTAAATCAGTGACTCTCAATTTAATATGTTATAAAATTGGCCTGGAAACAATGTTGACCTACTTTTGCAGGATGCTCATCTATGAATTCCTCTAGGGGTTGGGTGAAGTGTTTTGGCTTGGTTTGTGTCTGTATCTCCCCTGTAAGGAGATCATGCTATTTTTTACAAACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGT... |
Task1_train_11588 | A genetic alteration is present in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Osteogenesis imperfecta type I | GGGAATTGGTCAAAATTACTGACTGTGTTTTCTTAGGCAAAAAAAGCATCTGCTTTCCATCTGCCTTATTAAATCAGTGACTCTCAATTTAATATGTTATAAAATTGGCCTGGAAACAATGTTGACCTACTTTTGCAGGATGCTCATCTATGAATTCCTCTAGGGGTTGGGTGAAGTGTTTTGGCTTGGTTTGTGTCTGTATCTCCCCTGTAAGGAGATCATGCTATTTTTTACAAACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGT... | GGGAATTGGTCAAAATTACTGACTGTGTTTTCTTAGGCAAAAAAAGCATCTGCTTTCCATCTGCCTTATTAAATCAGTGACTCTCAATTTAATATGTTATAAAATTGGCCTGGAAACAATGTTGACCTACTTTTGCAGGATGCTCATCTATGAATTCCTCTAGGGGTTGGGTGAAGTGTTTTGGCTTGGTTTGTGTCTGTATCTCCCCTGTAAGGAGATCATGCTATTTTTTACAAACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGT... |
Task1_train_11589 | 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 | GGGAATTGGTCAAAATTACTGACTGTGTTTTCTTAGGCAAAAAAAGCATCTGCTTTCCATCTGCCTTATTAAATCAGTGACTCTCAATTTAATATGTTATAAAATTGGCCTGGAAACAATGTTGACCTACTTTTGCAGGATGCTCATCTATGAATTCCTCTAGGGGTTGGGTGAAGTGTTTTGGCTTGGTTTGTGTCTGTATCTCCCCTGTAAGGAGATCATGCTATTTTTTACAAACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGT... | GGGAATTGGTCAAAATTACTGACTGTGTTTTCTTAGGCAAAAAAAGCATCTGCTTTCCATCTGCCTTATTAAATCAGTGACTCTCAATTTAATATGTTATAAAATTGGCCTGGAAACAATGTTGACCTACTTTTGCAGGATGCTCATCTATGAATTCCTCTAGGGGTTGGGTGAAGTGTTTTGGCTTGGTTTGTGTCTGTATCTCCCCTGTAAGGAGATCATGCTATTTTTTACAAACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGT... |
Task1_train_11590 | The gene COL1A2 (collagen type I alpha 2 chain), on Chromosome 7, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Osteogenesis imperfecta type I | TGACTGTGTTTTCTTAGGCAAAAAAAGCATCTGCTTTCCATCTGCCTTATTAAATCAGTGACTCTCAATTTAATATGTTATAAAATTGGCCTGGAAACAATGTTGACCTACTTTTGCAGGATGCTCATCTATGAATTCCTCTAGGGGTTGGGTGAAGTGTTTTGGCTTGGTTTGTGTCTGTATCTCCCCTGTAAGGAGATCATGCTATTTTTTACAAACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCA... | TGACTGTGTTTTCTTAGGCAAAAAAAGCATCTGCTTTCCATCTGCCTTATTAAATCAGTGACTCTCAATTTAATATGTTATAAAATTGGCCTGGAAACAATGTTGACCTACTTTTGCAGGATGCTCATCTATGAATTCCTCTAGGGGTTGGGTGAAGTGTTTTGGCTTGGTTTGTGTCTGTATCTCCCCTGTAAGGAGATCATGCTATTTTTTACAAACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCA... |
Task1_train_11591 | 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 | TGACTGTGTTTTCTTAGGCAAAAAAAGCATCTGCTTTCCATCTGCCTTATTAAATCAGTGACTCTCAATTTAATATGTTATAAAATTGGCCTGGAAACAATGTTGACCTACTTTTGCAGGATGCTCATCTATGAATTCCTCTAGGGGTTGGGTGAAGTGTTTTGGCTTGGTTTGTGTCTGTATCTCCCCTGTAAGGAGATCATGCTATTTTTTACAAACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCA... | TGACTGTGTTTTCTTAGGCAAAAAAAGCATCTGCTTTCCATCTGCCTTATTAAATCAGTGACTCTCAATTTAATATGTTATAAAATTGGCCTGGAAACAATGTTGACCTACTTTTGCAGGATGCTCATCTATGAATTCCTCTAGGGGTTGGGTGAAGTGTTTTGGCTTGGTTTGTGTCTGTATCTCCCCTGTAAGGAGATCATGCTATTTTTTACAAACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCA... |
Task1_train_11592 | A genetic alteration is present in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Osteogenesis imperfecta type I | TGACTGTGTTTTCTTAGGCAAAAAAAGCATCTGCTTTCCATCTGCCTTATTAAATCAGTGACTCTCAATTTAATATGTTATAAAATTGGCCTGGAAACAATGTTGACCTACTTTTGCAGGATGCTCATCTATGAATTCCTCTAGGGGTTGGGTGAAGTGTTTTGGCTTGGTTTGTGTCTGTATCTCCCCTGTAAGGAGATCATGCTATTTTTTACAAACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCA... | TGACTGTGTTTTCTTAGGCAAAAAAAGCATCTGCTTTCCATCTGCCTTATTAAATCAGTGACTCTCAATTTAATATGTTATAAAATTGGCCTGGAAACAATGTTGACCTACTTTTGCAGGATGCTCATCTATGAATTCCTCTAGGGGTTGGGTGAAGTGTTTTGGCTTGGTTTGTGTCTGTATCTCCCCTGTAAGGAGATCATGCTATTTTTTACAAACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCA... |
Task1_train_11593 | The gene COL1A2 (collagen type I alpha 2 chain), on Chromosome 7, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TGACTGTGTTTTCTTAGGCAAAAAAAGCATCTGCTTTCCATCTGCCTTATTAAATCAGTGACTCTCAATTTAATATGTTATAAAATTGGCCTGGAAACAATGTTGACCTACTTTTGCAGGATGCTCATCTATGAATTCCTCTAGGGGTTGGGTGAAGTGTTTTGGCTTGGTTTGTGTCTGTATCTCCCCTGTAAGGAGATCATGCTATTTTTTACAAACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCA... | TGACTGTGTTTTCTTAGGCAAAAAAAGCATCTGCTTTCCATCTGCCTTATTAAATCAGTGACTCTCAATTTAATATGTTATAAAATTGGCCTGGAAACAATGTTGACCTACTTTTGCAGGATGCTCATCTATGAATTCCTCTAGGGGTTGGGTGAAGTGTTTTGGCTTGGTTTGTGTCTGTATCTCCCCTGTAAGGAGATCATGCTATTTTTTACAAACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCA... |
Task1_train_11594 | 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 | TTTTTTGAATAGGGCCCTCCTGGTAGTCGTGGTGCAAGTGGCCCTGCTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGAGTAAGTTTCAAACTGATTCTGAGCAAATCACACCTGGCATTACTTCCTTCTTTAAAGGGTTGGTTAATATTGAAGATAACAATAAAAACATCAAAAGTAAATTTGTTAGTAGTCTTGCTGACAGTTGCATTTTTGACTTTATCAAAGCTCAGTAGATATTTTCATGCATTTAATTAGTTCATAAATTTTCTATTTATTACTTGATACAA... | TTTTTTGAATAGGGCCCTCCTGGTAGTCGTGGTGCAAGTGGCCCTGCTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGAGTAAGTTTCAAACTGATTCTGAGCAAATCACACCTGGCATTACTTCCTTCTTTAAAGGGTTGGTTAATATTGAAGATAACAATAAAAACATCAAAAGTAAATTTGTTAGTAGTCTTGCTGACAGTTGCATTTTTGACTTTATCAAAGCTCAGTAGATATTTTCATGCATTTAATTAGTTCATAAATTTTCTATTTATTACTTGATACAA... |
Task1_train_11595 | 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; Ehlers-Danlos syndrome, classic type, 1 | TTTTTTGAATAGGGCCCTCCTGGTAGTCGTGGTGCAAGTGGCCCTGCTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGAGTAAGTTTCAAACTGATTCTGAGCAAATCACACCTGGCATTACTTCCTTCTTTAAAGGGTTGGTTAATATTGAAGATAACAATAAAAACATCAAAAGTAAATTTGTTAGTAGTCTTGCTGACAGTTGCATTTTTGACTTTATCAAAGCTCAGTAGATATTTTCATGCATTTAATTAGTTCATAAATTTTCTATTTATTACTTGATACAA... | TTTTTTGAATAGGGCCCTCCTGGTAGTCGTGGTGCAAGTGGCCCTGCTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGAGTAAGTTTCAAACTGATTCTGAGCAAATCACACCTGGCATTACTTCCTTCTTTAAAGGGTTGGTTAATATTGAAGATAACAATAAAAACATCAAAAGTAAATTTGTTAGTAGTCTTGCTGACAGTTGCATTTTTGACTTTATCAAAGCTCAGTAGATATTTTCATGCATTTAATTAGTTCATAAATTTTCTATTTATTACTTGATACAA... |
Task1_train_11596 | 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, perinatal lethal | CCTGGTAGTCGTGGTGCAAGTGGCCCTGCTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGAGTAAGTTTCAAACTGATTCTGAGCAAATCACACCTGGCATTACTTCCTTCTTTAAAGGGTTGGTTAATATTGAAGATAACAATAAAAACATCAAAAGTAAATTTGTTAGTAGTCTTGCTGACAGTTGCATTTTTGACTTTATCAAAGCTCAGTAGATATTTTCATGCATTTAATTAGTTCATAAATTTTCTATTTATTACTTGATACAATGGCTATGAGGTTTTTGG... | CCTGGTAGTCGTGGTGCAAGTGGCCCTGCTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGAGTAAGTTTCAAACTGATTCTGAGCAAATCACACCTGGCATTACTTCCTTCTTTAAAGGGTTGGTTAATATTGAAGATAACAATAAAAACATCAAAAGTAAATTTGTTAGTAGTCTTGCTGACAGTTGCATTTTTGACTTTATCAAAGCTCAGTAGATATTTTCATGCATTTAATTAGTTCATAAATTTTCTATTTATTACTTGATACAATGGCTATGAGGTTTTTGG... |
Task1_train_11597 | 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 III | CCTGGTAGTCGTGGTGCAAGTGGCCCTGCTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGAGTAAGTTTCAAACTGATTCTGAGCAAATCACACCTGGCATTACTTCCTTCTTTAAAGGGTTGGTTAATATTGAAGATAACAATAAAAACATCAAAAGTAAATTTGTTAGTAGTCTTGCTGACAGTTGCATTTTTGACTTTATCAAAGCTCAGTAGATATTTTCATGCATTTAATTAGTTCATAAATTTTCTATTTATTACTTGATACAATGGCTATGAGGTTTTTGG... | CCTGGTAGTCGTGGTGCAAGTGGCCCTGCTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGAGTAAGTTTCAAACTGATTCTGAGCAAATCACACCTGGCATTACTTCCTTCTTTAAAGGGTTGGTTAATATTGAAGATAACAATAAAAACATCAAAAGTAAATTTGTTAGTAGTCTTGCTGACAGTTGCATTTTTGACTTTATCAAAGCTCAGTAGATATTTTCATGCATTTAATTAGTTCATAAATTTTCTATTTATTACTTGATACAATGGCTATGAGGTTTTTGG... |
Task1_train_11598 | This sequence change occurs on Chromosome 7, altering COL1A2 (collagen type I alpha 2 chain). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | CCTGGTAGTCGTGGTGCAAGTGGCCCTGCTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGAGTAAGTTTCAAACTGATTCTGAGCAAATCACACCTGGCATTACTTCCTTCTTTAAAGGGTTGGTTAATATTGAAGATAACAATAAAAACATCAAAAGTAAATTTGTTAGTAGTCTTGCTGACAGTTGCATTTTTGACTTTATCAAAGCTCAGTAGATATTTTCATGCATTTAATTAGTTCATAAATTTTCTATTTATTACTTGATACAATGGCTATGAGGTTTTTGG... | CCTGGTAGTCGTGGTGCAAGTGGCCCTGCTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGAGTAAGTTTCAAACTGATTCTGAGCAAATCACACCTGGCATTACTTCCTTCTTTAAAGGGTTGGTTAATATTGAAGATAACAATAAAAACATCAAAAGTAAATTTGTTAGTAGTCTTGCTGACAGTTGCATTTTTGACTTTATCAAAGCTCAGTAGATATTTTCATGCATTTAATTAGTTCATAAATTTTCTATTTATTACTTGATACAATGGCTATGAGGTTTTTGG... |
Task1_train_11599 | 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 | CCTGGTAGTCGTGGTGCAAGTGGCCCTGCTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGAGTAAGTTTCAAACTGATTCTGAGCAAATCACACCTGGCATTACTTCCTTCTTTAAAGGGTTGGTTAATATTGAAGATAACAATAAAAACATCAAAAGTAAATTTGTTAGTAGTCTTGCTGACAGTTGCATTTTTGACTTTATCAAAGCTCAGTAGATATTTTCATGCATTTAATTAGTTCATAAATTTTCTATTTATTACTTGATACAATGGCTATGAGGTTTTTGG... | CCTGGTAGTCGTGGTGCAAGTGGCCCTGCTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGAGTAAGTTTCAAACTGATTCTGAGCAAATCACACCTGGCATTACTTCCTTCTTTAAAGGGTTGGTTAATATTGAAGATAACAATAAAAACATCAAAAGTAAATTTGTTAGTAGTCTTGCTGACAGTTGCATTTTTGACTTTATCAAAGCTCAGTAGATATTTTCATGCATTTAATTAGTTCATAAATTTTCTATTTATTACTTGATACAATGGCTATGAGGTTTTTGG... |
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