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_11600 | 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; Osteoporosis | CCTGGTAGTCGTGGTGCAAGTGGCCCTGCTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGAGTAAGTTTCAAACTGATTCTGAGCAAATCACACCTGGCATTACTTCCTTCTTTAAAGGGTTGGTTAATATTGAAGATAACAATAAAAACATCAAAAGTAAATTTGTTAGTAGTCTTGCTGACAGTTGCATTTTTGACTTTATCAAAGCTCAGTAGATATTTTCATGCATTTAATTAGTTCATAAATTTTCTATTTATTACTTGATACAATGGCTATGAGGTTTTTGG... | CCTGGTAGTCGTGGTGCAAGTGGCCCTGCTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGAGTAAGTTTCAAACTGATTCTGAGCAAATCACACCTGGCATTACTTCCTTCTTTAAAGGGTTGGTTAATATTGAAGATAACAATAAAAACATCAAAAGTAAATTTGTTAGTAGTCTTGCTGACAGTTGCATTTTTGACTTTATCAAAGCTCAGTAGATATTTTCATGCATTTAATTAGTTCATAAATTTTCTATTTATTACTTGATACAATGGCTATGAGGTTTTTGG... |
Task1_train_11601 | 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, arthrochalasia type, 2 | CCTGGTAGTCGTGGTGCAAGTGGCCCTGCTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGAGTAAGTTTCAAACTGATTCTGAGCAAATCACACCTGGCATTACTTCCTTCTTTAAAGGGTTGGTTAATATTGAAGATAACAATAAAAACATCAAAAGTAAATTTGTTAGTAGTCTTGCTGACAGTTGCATTTTTGACTTTATCAAAGCTCAGTAGATATTTTCATGCATTTAATTAGTTCATAAATTTTCTATTTATTACTTGATACAATGGCTATGAGGTTTTTGG... | CCTGGTAGTCGTGGTGCAAGTGGCCCTGCTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGAGTAAGTTTCAAACTGATTCTGAGCAAATCACACCTGGCATTACTTCCTTCTTTAAAGGGTTGGTTAATATTGAAGATAACAATAAAAACATCAAAAGTAAATTTGTTAGTAGTCTTGCTGACAGTTGCATTTTTGACTTTATCAAAGCTCAGTAGATATTTTCATGCATTTAATTAGTTCATAAATTTTCTATTTATTACTTGATACAATGGCTATGAGGTTTTTGG... |
Task1_train_11602 | 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; Ehlers-Danlos syndrome, classic type, 1 | CTGGTAGTCGTGGTGCAAGTGGCCCTGCTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGAGTAAGTTTCAAACTGATTCTGAGCAAATCACACCTGGCATTACTTCCTTCTTTAAAGGGTTGGTTAATATTGAAGATAACAATAAAAACATCAAAAGTAAATTTGTTAGTAGTCTTGCTGACAGTTGCATTTTTGACTTTATCAAAGCTCAGTAGATATTTTCATGCATTTAATTAGTTCATAAATTTTCTATTTATTACTTGATACAATGGCTATGAGGTTTTTGGA... | CTGGTAGTCGTGGTGCAAGTGGCCCTGCTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGAGTAAGTTTCAAACTGATTCTGAGCAAATCACACCTGGCATTACTTCCTTCTTTAAAGGGTTGGTTAATATTGAAGATAACAATAAAAACATCAAAAGTAAATTTGTTAGTAGTCTTGCTGACAGTTGCATTTTTGACTTTATCAAAGCTCAGTAGATATTTTCATGCATTTAATTAGTTCATAAATTTTCTATTTATTACTTGATACAATGGCTATGAGGTTTTTGGA... |
Task1_train_11603 | 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 type I | CTGGTAGTCGTGGTGCAAGTGGCCCTGCTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGAGTAAGTTTCAAACTGATTCTGAGCAAATCACACCTGGCATTACTTCCTTCTTTAAAGGGTTGGTTAATATTGAAGATAACAATAAAAACATCAAAAGTAAATTTGTTAGTAGTCTTGCTGACAGTTGCATTTTTGACTTTATCAAAGCTCAGTAGATATTTTCATGCATTTAATTAGTTCATAAATTTTCTATTTATTACTTGATACAATGGCTATGAGGTTTTTGGA... | CTGGTAGTCGTGGTGCAAGTGGCCCTGCTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGAGTAAGTTTCAAACTGATTCTGAGCAAATCACACCTGGCATTACTTCCTTCTTTAAAGGGTTGGTTAATATTGAAGATAACAATAAAAACATCAAAAGTAAATTTGTTAGTAGTCTTGCTGACAGTTGCATTTTTGACTTTATCAAAGCTCAGTAGATATTTTCATGCATTTAATTAGTTCATAAATTTTCTATTTATTACTTGATACAATGGCTATGAGGTTTTTGGA... |
Task1_train_11604 | 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 I | AGTGGCCCTGCTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGAGTAAGTTTCAAACTGATTCTGAGCAAATCACACCTGGCATTACTTCCTTCTTTAAAGGGTTGGTTAATATTGAAGATAACAATAAAAACATCAAAAGTAAATTTGTTAGTAGTCTTGCTGACAGTTGCATTTTTGACTTTATCAAAGCTCAGTAGATATTTTCATGCATTTAATTAGTTCATAAATTTTCTATTTATTACTTGATACAATGGCTATGAGGTTTTTGGAAGAATAGATCTATTTTA... | AGTGGCCCTGCTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGAGTAAGTTTCAAACTGATTCTGAGCAAATCACACCTGGCATTACTTCCTTCTTTAAAGGGTTGGTTAATATTGAAGATAACAATAAAAACATCAAAAGTAAATTTGTTAGTAGTCTTGCTGACAGTTGCATTTTTGACTTTATCAAAGCTCAGTAGATATTTTCATGCATTTAATTAGTTCATAAATTTTCTATTTATTACTTGATACAATGGCTATGAGGTTTTTGGAAGAATAGATCTATTTTA... |
Task1_train_11605 | 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 | AGTGGCCCTGCTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGAGTAAGTTTCAAACTGATTCTGAGCAAATCACACCTGGCATTACTTCCTTCTTTAAAGGGTTGGTTAATATTGAAGATAACAATAAAAACATCAAAAGTAAATTTGTTAGTAGTCTTGCTGACAGTTGCATTTTTGACTTTATCAAAGCTCAGTAGATATTTTCATGCATTTAATTAGTTCATAAATTTTCTATTTATTACTTGATACAATGGCTATGAGGTTTTTGGAAGAATAGATCTATTTTA... | AGTGGCCCTGCTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGAGTAAGTTTCAAACTGATTCTGAGCAAATCACACCTGGCATTACTTCCTTCTTTAAAGGGTTGGTTAATATTGAAGATAACAATAAAAACATCAAAAGTAAATTTGTTAGTAGTCTTGCTGACAGTTGCATTTTTGACTTTATCAAAGCTCAGTAGATATTTTCATGCATTTAATTAGTTCATAAATTTTCTATTTATTACTTGATACAATGGCTATGAGGTTTTTGGAAGAATAGATCTATTTTA... |
Task1_train_11606 | 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 | GTGGCCCTGCTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGAGTAAGTTTCAAACTGATTCTGAGCAAATCACACCTGGCATTACTTCCTTCTTTAAAGGGTTGGTTAATATTGAAGATAACAATAAAAACATCAAAAGTAAATTTGTTAGTAGTCTTGCTGACAGTTGCATTTTTGACTTTATCAAAGCTCAGTAGATATTTTCATGCATTTAATTAGTTCATAAATTTTCTATTTATTACTTGATACAATGGCTATGAGGTTTTTGGAAGAATAGATCTATTTTAA... | GTGGCCCTGCTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGAGTAAGTTTCAAACTGATTCTGAGCAAATCACACCTGGCATTACTTCCTTCTTTAAAGGGTTGGTTAATATTGAAGATAACAATAAAAACATCAAAAGTAAATTTGTTAGTAGTCTTGCTGACAGTTGCATTTTTGACTTTATCAAAGCTCAGTAGATATTTTCATGCATTTAATTAGTTCATAAATTTTCTATTTATTACTTGATACAATGGCTATGAGGTTTTTGGAAGAATAGATCTATTTTAA... |
Task1_train_11607 | 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; Osteogenesis imperfecta, perinatal lethal | CCACAAAAAAATAGAAGAAAAATTTCAGAACTCTTTTCACACTTCCCAGCTAGTGGCTAATATTCCTAATGATTTACCCTAGGCAACAAACAAAAAGTCGGGGGAAAAGGTGCCTTTGTTAGACTTCAGTTAATCTAAGGCTTGAGTATGTAAGTTAAAGTGCCAATATAAAAACATCCTCATTTATTTTATAGGGTCTTCCTGGTTCCCCTGGAAATATCGGCCCCGCTGGAAAAGAAGGTCCTGTCGTAAGTATTGCTCATTTTCCATTATATTTTCAAGGACACTTATTGCACCCTTATCAAGTCTATTTTGTGGCT... | CCACAAAAAAATAGAAGAAAAATTTCAGAACTCTTTTCACACTTCCCAGCTAGTGGCTAATATTCCTAATGATTTACCCTAGGCAACAAACAAAAAGTCGGGGGAAAAGGTGCCTTTGTTAGACTTCAGTTAATCTAAGGCTTGAGTATGTAAGTTAAAGTGCCAATATAAAAACATCCTCATTTATTTTATAGGGTCTTCCTGGTTCCCCTGGAAATATCGGCCCCGCTGGAAAAGAAGGTCCTGTCGTAAGTATTGCTCATTTTCCATTATATTTTCAAGGACACTTATTGCACCCTTATCAAGTCTATTTTGTGGCT... |
Task1_train_11608 | 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; not provided | AAAATTTCAGAACTCTTTTCACACTTCCCAGCTAGTGGCTAATATTCCTAATGATTTACCCTAGGCAACAAACAAAAAGTCGGGGGAAAAGGTGCCTTTGTTAGACTTCAGTTAATCTAAGGCTTGAGTATGTAAGTTAAAGTGCCAATATAAAAACATCCTCATTTATTTTATAGGGTCTTCCTGGTTCCCCTGGAAATATCGGCCCCGCTGGAAAAGAAGGTCCTGTCGTAAGTATTGCTCATTTTCCATTATATTTTCAAGGACACTTATTGCACCCTTATCAAGTCTATTTTGTGGCTTATTTATACATGAACACA... | AAAATTTCAGAACTCTTTTCACACTTCCCAGCTAGTGGCTAATATTCCTAATGATTTACCCTAGGCAACAAACAAAAAGTCGGGGGAAAAGGTGCCTTTGTTAGACTTCAGTTAATCTAAGGCTTGAGTATGTAAGTTAAAGTGCCAATATAAAAACATCCTCATTTATTTTATAGGGTCTTCCTGGTTCCCCTGGAAATATCGGCCCCGCTGGAAAAGAAGGTCCTGTCGTAAGTATTGCTCATTTTCCATTATATTTTCAAGGACACTTATTGCACCCTTATCAAGTCTATTTTGTGGCTTATTTATACATGAACACA... |
Task1_train_11609 | 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; not provided | ATCAAGTCTATTTTGTGGCTTATTTATACATGAACACATTGAAAATAAATATCAGACACATACATCATCTGGGAATGCAGAGTAATAGATTGTAATTATGGAGTCCAAATGAATACAGGACTGAAAGCAGAGCAGGGGAGAGAAAAACATGGCAGGGAAAATTGAAGCAGGTGACAAGGGGATGCAAGAGAAGGGAATGAGGGAAATTGCATACATACGAGATTGAATTGGCTATGTGTGTACTGACATCCTAGTTAGAAAAGGAAAATGGATTCATAATTTATTAACGCTTTATACAAGAAGCTCTATGCATTCAGAAA... | ATCAAGTCTATTTTGTGGCTTATTTATACATGAACACATTGAAAATAAATATCAGACACATACATCATCTGGGAATGCAGAGTAATAGATTGTAATTATGGAGTCCAAATGAATACAGGACTGAAAGCAGAGCAGGGGAGAGAAAAACATGGCAGGGAAAATTGAAGCAGGTGACAAGGGGATGCAAGAGAAGGGAATGAGGGAAATTGCATACATACGAGATTGAATTGGCTATGTGTGTACTGACATCCTAGTTAGAAAAGGAAAATGGATTCATAATTTATTAACGCTTTATACAAGAAGCTCTATGCATTCAGAAA... |
Task1_train_11610 | 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 | ATCAAGTCTATTTTGTGGCTTATTTATACATGAACACATTGAAAATAAATATCAGACACATACATCATCTGGGAATGCAGAGTAATAGATTGTAATTATGGAGTCCAAATGAATACAGGACTGAAAGCAGAGCAGGGGAGAGAAAAACATGGCAGGGAAAATTGAAGCAGGTGACAAGGGGATGCAAGAGAAGGGAATGAGGGAAATTGCATACATACGAGATTGAATTGGCTATGTGTGTACTGACATCCTAGTTAGAAAAGGAAAATGGATTCATAATTTATTAACGCTTTATACAAGAAGCTCTATGCATTCAGAAA... | ATCAAGTCTATTTTGTGGCTTATTTATACATGAACACATTGAAAATAAATATCAGACACATACATCATCTGGGAATGCAGAGTAATAGATTGTAATTATGGAGTCCAAATGAATACAGGACTGAAAGCAGAGCAGGGGAGAGAAAAACATGGCAGGGAAAATTGAAGCAGGTGACAAGGGGATGCAAGAGAAGGGAATGAGGGAAATTGCATACATACGAGATTGAATTGGCTATGTGTGTACTGACATCCTAGTTAGAAAAGGAAAATGGATTCATAATTTATTAACGCTTTATACAAGAAGCTCTATGCATTCAGAAA... |
Task1_train_11611 | 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 | ATCAAGTCTATTTTGTGGCTTATTTATACATGAACACATTGAAAATAAATATCAGACACATACATCATCTGGGAATGCAGAGTAATAGATTGTAATTATGGAGTCCAAATGAATACAGGACTGAAAGCAGAGCAGGGGAGAGAAAAACATGGCAGGGAAAATTGAAGCAGGTGACAAGGGGATGCAAGAGAAGGGAATGAGGGAAATTGCATACATACGAGATTGAATTGGCTATGTGTGTACTGACATCCTAGTTAGAAAAGGAAAATGGATTCATAATTTATTAACGCTTTATACAAGAAGCTCTATGCATTCAGAAA... | ATCAAGTCTATTTTGTGGCTTATTTATACATGAACACATTGAAAATAAATATCAGACACATACATCATCTGGGAATGCAGAGTAATAGATTGTAATTATGGAGTCCAAATGAATACAGGACTGAAAGCAGAGCAGGGGAGAGAAAAACATGGCAGGGAAAATTGAAGCAGGTGACAAGGGGATGCAAGAGAAGGGAATGAGGGAAATTGCATACATACGAGATTGAATTGGCTATGTGTGTACTGACATCCTAGTTAGAAAAGGAAAATGGATTCATAATTTATTAACGCTTTATACAAGAAGCTCTATGCATTCAGAAA... |
Task1_train_11612 | 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 I | ATTTTGTGGCTTATTTATACATGAACACATTGAAAATAAATATCAGACACATACATCATCTGGGAATGCAGAGTAATAGATTGTAATTATGGAGTCCAAATGAATACAGGACTGAAAGCAGAGCAGGGGAGAGAAAAACATGGCAGGGAAAATTGAAGCAGGTGACAAGGGGATGCAAGAGAAGGGAATGAGGGAAATTGCATACATACGAGATTGAATTGGCTATGTGTGTACTGACATCCTAGTTAGAAAAGGAAAATGGATTCATAATTTATTAACGCTTTATACAAGAAGCTCTATGCATTCAGAAAACTATTCTG... | ATTTTGTGGCTTATTTATACATGAACACATTGAAAATAAATATCAGACACATACATCATCTGGGAATGCAGAGTAATAGATTGTAATTATGGAGTCCAAATGAATACAGGACTGAAAGCAGAGCAGGGGAGAGAAAAACATGGCAGGGAAAATTGAAGCAGGTGACAAGGGGATGCAAGAGAAGGGAATGAGGGAAATTGCATACATACGAGATTGAATTGGCTATGTGTGTACTGACATCCTAGTTAGAAAAGGAAAATGGATTCATAATTTATTAACGCTTTATACAAGAAGCTCTATGCATTCAGAAAACTATTCTG... |
Task1_train_11613 | 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; Ehlers-Danlos syndrome, classic type, 1 | ATTTTGTGGCTTATTTATACATGAACACATTGAAAATAAATATCAGACACATACATCATCTGGGAATGCAGAGTAATAGATTGTAATTATGGAGTCCAAATGAATACAGGACTGAAAGCAGAGCAGGGGAGAGAAAAACATGGCAGGGAAAATTGAAGCAGGTGACAAGGGGATGCAAGAGAAGGGAATGAGGGAAATTGCATACATACGAGATTGAATTGGCTATGTGTGTACTGACATCCTAGTTAGAAAAGGAAAATGGATTCATAATTTATTAACGCTTTATACAAGAAGCTCTATGCATTCAGAAAACTATTCTG... | ATTTTGTGGCTTATTTATACATGAACACATTGAAAATAAATATCAGACACATACATCATCTGGGAATGCAGAGTAATAGATTGTAATTATGGAGTCCAAATGAATACAGGACTGAAAGCAGAGCAGGGGAGAGAAAAACATGGCAGGGAAAATTGAAGCAGGTGACAAGGGGATGCAAGAGAAGGGAATGAGGGAAATTGCATACATACGAGATTGAATTGGCTATGTGTGTACTGACATCCTAGTTAGAAAAGGAAAATGGATTCATAATTTATTAACGCTTTATACAAGAAGCTCTATGCATTCAGAAAACTATTCTG... |
Task1_train_11614 | 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 | TTTTGTGGCTTATTTATACATGAACACATTGAAAATAAATATCAGACACATACATCATCTGGGAATGCAGAGTAATAGATTGTAATTATGGAGTCCAAATGAATACAGGACTGAAAGCAGAGCAGGGGAGAGAAAAACATGGCAGGGAAAATTGAAGCAGGTGACAAGGGGATGCAAGAGAAGGGAATGAGGGAAATTGCATACATACGAGATTGAATTGGCTATGTGTGTACTGACATCCTAGTTAGAAAAGGAAAATGGATTCATAATTTATTAACGCTTTATACAAGAAGCTCTATGCATTCAGAAAACTATTCTGT... | TTTTGTGGCTTATTTATACATGAACACATTGAAAATAAATATCAGACACATACATCATCTGGGAATGCAGAGTAATAGATTGTAATTATGGAGTCCAAATGAATACAGGACTGAAAGCAGAGCAGGGGAGAGAAAAACATGGCAGGGAAAATTGAAGCAGGTGACAAGGGGATGCAAGAGAAGGGAATGAGGGAAATTGCATACATACGAGATTGAATTGGCTATGTGTGTACTGACATCCTAGTTAGAAAAGGAAAATGGATTCATAATTTATTAACGCTTTATACAAGAAGCTCTATGCATTCAGAAAACTATTCTGT... |
Task1_train_11615 | 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 | ACATGAACACATTGAAAATAAATATCAGACACATACATCATCTGGGAATGCAGAGTAATAGATTGTAATTATGGAGTCCAAATGAATACAGGACTGAAAGCAGAGCAGGGGAGAGAAAAACATGGCAGGGAAAATTGAAGCAGGTGACAAGGGGATGCAAGAGAAGGGAATGAGGGAAATTGCATACATACGAGATTGAATTGGCTATGTGTGTACTGACATCCTAGTTAGAAAAGGAAAATGGATTCATAATTTATTAACGCTTTATACAAGAAGCTCTATGCATTCAGAAAACTATTCTGTTTCATCCGTGGCAGCAT... | ACATGAACACATTGAAAATAAATATCAGACACATACATCATCTGGGAATGCAGAGTAATAGATTGTAATTATGGAGTCCAAATGAATACAGGACTGAAAGCAGAGCAGGGGAGAGAAAAACATGGCAGGGAAAATTGAAGCAGGTGACAAGGGGATGCAAGAGAAGGGAATGAGGGAAATTGCATACATACGAGATTGAATTGGCTATGTGTGTACTGACATCCTAGTTAGAAAAGGAAAATGGATTCATAATTTATTAACGCTTTATACAAGAAGCTCTATGCATTCAGAAAACTATTCTGTTTCATCCGTGGCAGCAT... |
Task1_train_11616 | 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, 1 | ACATGAACACATTGAAAATAAATATCAGACACATACATCATCTGGGAATGCAGAGTAATAGATTGTAATTATGGAGTCCAAATGAATACAGGACTGAAAGCAGAGCAGGGGAGAGAAAAACATGGCAGGGAAAATTGAAGCAGGTGACAAGGGGATGCAAGAGAAGGGAATGAGGGAAATTGCATACATACGAGATTGAATTGGCTATGTGTGTACTGACATCCTAGTTAGAAAAGGAAAATGGATTCATAATTTATTAACGCTTTATACAAGAAGCTCTATGCATTCAGAAAACTATTCTGTTTCATCCGTGGCAGCAT... | ACATGAACACATTGAAAATAAATATCAGACACATACATCATCTGGGAATGCAGAGTAATAGATTGTAATTATGGAGTCCAAATGAATACAGGACTGAAAGCAGAGCAGGGGAGAGAAAAACATGGCAGGGAAAATTGAAGCAGGTGACAAGGGGATGCAAGAGAAGGGAATGAGGGAAATTGCATACATACGAGATTGAATTGGCTATGTGTGTACTGACATCCTAGTTAGAAAAGGAAAATGGATTCATAATTTATTAACGCTTTATACAAGAAGCTCTATGCATTCAGAAAACTATTCTGTTTCATCCGTGGCAGCAT... |
Task1_train_11617 | 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; not provided | CATTGAAAATAAATATCAGACACATACATCATCTGGGAATGCAGAGTAATAGATTGTAATTATGGAGTCCAAATGAATACAGGACTGAAAGCAGAGCAGGGGAGAGAAAAACATGGCAGGGAAAATTGAAGCAGGTGACAAGGGGATGCAAGAGAAGGGAATGAGGGAAATTGCATACATACGAGATTGAATTGGCTATGTGTGTACTGACATCCTAGTTAGAAAAGGAAAATGGATTCATAATTTATTAACGCTTTATACAAGAAGCTCTATGCATTCAGAAAACTATTCTGTTTCATCCGTGGCAGCATCATAAGCTT... | CATTGAAAATAAATATCAGACACATACATCATCTGGGAATGCAGAGTAATAGATTGTAATTATGGAGTCCAAATGAATACAGGACTGAAAGCAGAGCAGGGGAGAGAAAAACATGGCAGGGAAAATTGAAGCAGGTGACAAGGGGATGCAAGAGAAGGGAATGAGGGAAATTGCATACATACGAGATTGAATTGGCTATGTGTGTACTGACATCCTAGTTAGAAAAGGAAAATGGATTCATAATTTATTAACGCTTTATACAAGAAGCTCTATGCATTCAGAAAACTATTCTGTTTCATCCGTGGCAGCATCATAAGCTT... |
Task1_train_11618 | 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, perinatal lethal | TTTTTTACACCATCTGATATCATTTTGTCACTTTCTTTTCAAGATGGCATCCCCAGGGGTCCTTTTACTATCATAAAATGCCTTTTTAAAAACCAAACTTATAAAACAGTGAGCAAAAACAAATCAGAATATACATTAGGTCAAAAATACAGAAGCACTTGGCTTTTATTTTATTCATTTTGTAATTAAAAGGGTATGAATATGTAGTAGCATTCTCTGGCCTTTATAAATTGCCTTGTGTCGCATACTTCGCTTGAGTCATATCAAAAGTTAGTAGGCAAACCCATAAATATATATACCTACTATGTACCCACACAAAT... | TTTTTTACACCATCTGATATCATTTTGTCACTTTCTTTTCAAGATGGCATCCCCAGGGGTCCTTTTACTATCATAAAATGCCTTTTTAAAAACCAAACTTATAAAACAGTGAGCAAAAACAAATCAGAATATACATTAGGTCAAAAATACAGAAGCACTTGGCTTTTATTTTATTCATTTTGTAATTAAAAGGGTATGAATATGTAGTAGCATTCTCTGGCCTTTATAAATTGCCTTGTGTCGCATACTTCGCTTGAGTCATATCAAAAGTTAGTAGGCAAACCCATAAATATATATACCTACTATGTACCCACACAAAT... |
Task1_train_11619 | 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 | CCATCTGATATCATTTTGTCACTTTCTTTTCAAGATGGCATCCCCAGGGGTCCTTTTACTATCATAAAATGCCTTTTTAAAAACCAAACTTATAAAACAGTGAGCAAAAACAAATCAGAATATACATTAGGTCAAAAATACAGAAGCACTTGGCTTTTATTTTATTCATTTTGTAATTAAAAGGGTATGAATATGTAGTAGCATTCTCTGGCCTTTATAAATTGCCTTGTGTCGCATACTTCGCTTGAGTCATATCAAAAGTTAGTAGGCAAACCCATAAATATATATACCTACTATGTACCCACACAAATTAAAAATTT... | CCATCTGATATCATTTTGTCACTTTCTTTTCAAGATGGCATCCCCAGGGGTCCTTTTACTATCATAAAATGCCTTTTTAAAAACCAAACTTATAAAACAGTGAGCAAAAACAAATCAGAATATACATTAGGTCAAAAATACAGAAGCACTTGGCTTTTATTTTATTCATTTTGTAATTAAAAGGGTATGAATATGTAGTAGCATTCTCTGGCCTTTATAAATTGCCTTGTGTCGCATACTTCGCTTGAGTCATATCAAAAGTTAGTAGGCAAACCCATAAATATATATACCTACTATGTACCCACACAAATTAAAAATTT... |
Task1_train_11620 | 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 | CCATCTGATATCATTTTGTCACTTTCTTTTCAAGATGGCATCCCCAGGGGTCCTTTTACTATCATAAAATGCCTTTTTAAAAACCAAACTTATAAAACAGTGAGCAAAAACAAATCAGAATATACATTAGGTCAAAAATACAGAAGCACTTGGCTTTTATTTTATTCATTTTGTAATTAAAAGGGTATGAATATGTAGTAGCATTCTCTGGCCTTTATAAATTGCCTTGTGTCGCATACTTCGCTTGAGTCATATCAAAAGTTAGTAGGCAAACCCATAAATATATATACCTACTATGTACCCACACAAATTAAAAATTT... | CCATCTGATATCATTTTGTCACTTTCTTTTCAAGATGGCATCCCCAGGGGTCCTTTTACTATCATAAAATGCCTTTTTAAAAACCAAACTTATAAAACAGTGAGCAAAAACAAATCAGAATATACATTAGGTCAAAAATACAGAAGCACTTGGCTTTTATTTTATTCATTTTGTAATTAAAAGGGTATGAATATGTAGTAGCATTCTCTGGCCTTTATAAATTGCCTTGTGTCGCATACTTCGCTTGAGTCATATCAAAAGTTAGTAGGCAAACCCATAAATATATATACCTACTATGTACCCACACAAATTAAAAATTT... |
Task1_train_11621 | 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 | ATCATTTTGTCACTTTCTTTTCAAGATGGCATCCCCAGGGGTCCTTTTACTATCATAAAATGCCTTTTTAAAAACCAAACTTATAAAACAGTGAGCAAAAACAAATCAGAATATACATTAGGTCAAAAATACAGAAGCACTTGGCTTTTATTTTATTCATTTTGTAATTAAAAGGGTATGAATATGTAGTAGCATTCTCTGGCCTTTATAAATTGCCTTGTGTCGCATACTTCGCTTGAGTCATATCAAAAGTTAGTAGGCAAACCCATAAATATATATACCTACTATGTACCCACACAAATTAAAAATTTAAAAAGTTA... | ATCATTTTGTCACTTTCTTTTCAAGATGGCATCCCCAGGGGTCCTTTTACTATCATAAAATGCCTTTTTAAAAACCAAACTTATAAAACAGTGAGCAAAAACAAATCAGAATATACATTAGGTCAAAAATACAGAAGCACTTGGCTTTTATTTTATTCATTTTGTAATTAAAAGGGTATGAATATGTAGTAGCATTCTCTGGCCTTTATAAATTGCCTTGTGTCGCATACTTCGCTTGAGTCATATCAAAAGTTAGTAGGCAAACCCATAAATATATATACCTACTATGTACCCACACAAATTAAAAATTTAAAAAGTTA... |
Task1_train_11622 | 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 | ATCATTTTGTCACTTTCTTTTCAAGATGGCATCCCCAGGGGTCCTTTTACTATCATAAAATGCCTTTTTAAAAACCAAACTTATAAAACAGTGAGCAAAAACAAATCAGAATATACATTAGGTCAAAAATACAGAAGCACTTGGCTTTTATTTTATTCATTTTGTAATTAAAAGGGTATGAATATGTAGTAGCATTCTCTGGCCTTTATAAATTGCCTTGTGTCGCATACTTCGCTTGAGTCATATCAAAAGTTAGTAGGCAAACCCATAAATATATATACCTACTATGTACCCACACAAATTAAAAATTTAAAAAGTTA... | ATCATTTTGTCACTTTCTTTTCAAGATGGCATCCCCAGGGGTCCTTTTACTATCATAAAATGCCTTTTTAAAAACCAAACTTATAAAACAGTGAGCAAAAACAAATCAGAATATACATTAGGTCAAAAATACAGAAGCACTTGGCTTTTATTTTATTCATTTTGTAATTAAAAGGGTATGAATATGTAGTAGCATTCTCTGGCCTTTATAAATTGCCTTGTGTCGCATACTTCGCTTGAGTCATATCAAAAGTTAGTAGGCAAACCCATAAATATATATACCTACTATGTACCCACACAAATTAAAAATTTAAAAAGTTA... |
Task1_train_11623 | 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; Osteogenesis imperfecta with normal sclerae, dominant form | ATCATTTTGTCACTTTCTTTTCAAGATGGCATCCCCAGGGGTCCTTTTACTATCATAAAATGCCTTTTTAAAAACCAAACTTATAAAACAGTGAGCAAAAACAAATCAGAATATACATTAGGTCAAAAATACAGAAGCACTTGGCTTTTATTTTATTCATTTTGTAATTAAAAGGGTATGAATATGTAGTAGCATTCTCTGGCCTTTATAAATTGCCTTGTGTCGCATACTTCGCTTGAGTCATATCAAAAGTTAGTAGGCAAACCCATAAATATATATACCTACTATGTACCCACACAAATTAAAAATTTAAAAAGTTA... | ATCATTTTGTCACTTTCTTTTCAAGATGGCATCCCCAGGGGTCCTTTTACTATCATAAAATGCCTTTTTAAAAACCAAACTTATAAAACAGTGAGCAAAAACAAATCAGAATATACATTAGGTCAAAAATACAGAAGCACTTGGCTTTTATTTTATTCATTTTGTAATTAAAAGGGTATGAATATGTAGTAGCATTCTCTGGCCTTTATAAATTGCCTTGTGTCGCATACTTCGCTTGAGTCATATCAAAAGTTAGTAGGCAAACCCATAAATATATATACCTACTATGTACCCACACAAATTAAAAATTTAAAAAGTTA... |
Task1_train_11624 | 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 type III | ATCATTTTGTCACTTTCTTTTCAAGATGGCATCCCCAGGGGTCCTTTTACTATCATAAAATGCCTTTTTAAAAACCAAACTTATAAAACAGTGAGCAAAAACAAATCAGAATATACATTAGGTCAAAAATACAGAAGCACTTGGCTTTTATTTTATTCATTTTGTAATTAAAAGGGTATGAATATGTAGTAGCATTCTCTGGCCTTTATAAATTGCCTTGTGTCGCATACTTCGCTTGAGTCATATCAAAAGTTAGTAGGCAAACCCATAAATATATATACCTACTATGTACCCACACAAATTAAAAATTTAAAAAGTTA... | ATCATTTTGTCACTTTCTTTTCAAGATGGCATCCCCAGGGGTCCTTTTACTATCATAAAATGCCTTTTTAAAAACCAAACTTATAAAACAGTGAGCAAAAACAAATCAGAATATACATTAGGTCAAAAATACAGAAGCACTTGGCTTTTATTTTATTCATTTTGTAATTAAAAGGGTATGAATATGTAGTAGCATTCTCTGGCCTTTATAAATTGCCTTGTGTCGCATACTTCGCTTGAGTCATATCAAAAGTTAGTAGGCAAACCCATAAATATATATACCTACTATGTACCCACACAAATTAAAAATTTAAAAAGTTA... |
Task1_train_11625 | 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 | AAAAGAAAATTTCGTATTTCATATGTTAATGATAGTGTTTTACATACTTTGGTGCTGATGGAGAGAATGAGCCAAATTACTTTAGTTCTGATTACTTTGTTTTACAGATTTAATGAAACATCACCTTATGAAAGTAAAATCTATCAATGAATATTTTATTTAATAGCCTTACTTTTTGTATTGTTCTTGATAACGTTAAGATACAAATTATTTCCTTCCCCATAGTGAAAAAGTAAATGCACAATTTTCAATCAAACTAGATCCCGAAAAATTCCTTTTGTGTTTTTCTTGGCATTCAGACATGACACTACTATACACAA... | AAAAGAAAATTTCGTATTTCATATGTTAATGATAGTGTTTTACATACTTTGGTGCTGATGGAGAGAATGAGCCAAATTACTTTAGTTCTGATTACTTTGTTTTACAGATTTAATGAAACATCACCTTATGAAAGTAAAATCTATCAATGAATATTTTATTTAATAGCCTTACTTTTTGTATTGTTCTTGATAACGTTAAGATACAAATTATTTCCTTCCCCATAGTGAAAAAGTAAATGCACAATTTTCAATCAAACTAGATCCCGAAAAATTCCTTTTGTGTTTTTCTTGGCATTCAGACATGACACTACTATACACAA... |
Task1_train_11626 | 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 | AAAAGAAAATTTCGTATTTCATATGTTAATGATAGTGTTTTACATACTTTGGTGCTGATGGAGAGAATGAGCCAAATTACTTTAGTTCTGATTACTTTGTTTTACAGATTTAATGAAACATCACCTTATGAAAGTAAAATCTATCAATGAATATTTTATTTAATAGCCTTACTTTTTGTATTGTTCTTGATAACGTTAAGATACAAATTATTTCCTTCCCCATAGTGAAAAAGTAAATGCACAATTTTCAATCAAACTAGATCCCGAAAAATTCCTTTTGTGTTTTTCTTGGCATTCAGACATGACACTACTATACACAA... | AAAAGAAAATTTCGTATTTCATATGTTAATGATAGTGTTTTACATACTTTGGTGCTGATGGAGAGAATGAGCCAAATTACTTTAGTTCTGATTACTTTGTTTTACAGATTTAATGAAACATCACCTTATGAAAGTAAAATCTATCAATGAATATTTTATTTAATAGCCTTACTTTTTGTATTGTTCTTGATAACGTTAAGATACAAATTATTTCCTTCCCCATAGTGAAAAAGTAAATGCACAATTTTCAATCAAACTAGATCCCGAAAAATTCCTTTTGTGTTTTTCTTGGCATTCAGACATGACACTACTATACACAA... |
Task1_train_11627 | 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 | AATGATAGTGTTTTACATACTTTGGTGCTGATGGAGAGAATGAGCCAAATTACTTTAGTTCTGATTACTTTGTTTTACAGATTTAATGAAACATCACCTTATGAAAGTAAAATCTATCAATGAATATTTTATTTAATAGCCTTACTTTTTGTATTGTTCTTGATAACGTTAAGATACAAATTATTTCCTTCCCCATAGTGAAAAAGTAAATGCACAATTTTCAATCAAACTAGATCCCGAAAAATTCCTTTTGTGTTTTTCTTGGCATTCAGACATGACACTACTATACACAATCAGGGCATGAGTTCTGAGTCATTTTC... | AATGATAGTGTTTTACATACTTTGGTGCTGATGGAGAGAATGAGCCAAATTACTTTAGTTCTGATTACTTTGTTTTACAGATTTAATGAAACATCACCTTATGAAAGTAAAATCTATCAATGAATATTTTATTTAATAGCCTTACTTTTTGTATTGTTCTTGATAACGTTAAGATACAAATTATTTCCTTCCCCATAGTGAAAAAGTAAATGCACAATTTTCAATCAAACTAGATCCCGAAAAATTCCTTTTGTGTTTTTCTTGGCATTCAGACATGACACTACTATACACAATCAGGGCATGAGTTCTGAGTCATTTTC... |
Task1_train_11628 | 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 | AATGATAGTGTTTTACATACTTTGGTGCTGATGGAGAGAATGAGCCAAATTACTTTAGTTCTGATTACTTTGTTTTACAGATTTAATGAAACATCACCTTATGAAAGTAAAATCTATCAATGAATATTTTATTTAATAGCCTTACTTTTTGTATTGTTCTTGATAACGTTAAGATACAAATTATTTCCTTCCCCATAGTGAAAAAGTAAATGCACAATTTTCAATCAAACTAGATCCCGAAAAATTCCTTTTGTGTTTTTCTTGGCATTCAGACATGACACTACTATACACAATCAGGGCATGAGTTCTGAGTCATTTTC... | AATGATAGTGTTTTACATACTTTGGTGCTGATGGAGAGAATGAGCCAAATTACTTTAGTTCTGATTACTTTGTTTTACAGATTTAATGAAACATCACCTTATGAAAGTAAAATCTATCAATGAATATTTTATTTAATAGCCTTACTTTTTGTATTGTTCTTGATAACGTTAAGATACAAATTATTTCCTTCCCCATAGTGAAAAAGTAAATGCACAATTTTCAATCAAACTAGATCCCGAAAAATTCCTTTTGTGTTTTTCTTGGCATTCAGACATGACACTACTATACACAATCAGGGCATGAGTTCTGAGTCATTTTC... |
Task1_train_11629 | 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 with normal sclerae, dominant form | AATGATAGTGTTTTACATACTTTGGTGCTGATGGAGAGAATGAGCCAAATTACTTTAGTTCTGATTACTTTGTTTTACAGATTTAATGAAACATCACCTTATGAAAGTAAAATCTATCAATGAATATTTTATTTAATAGCCTTACTTTTTGTATTGTTCTTGATAACGTTAAGATACAAATTATTTCCTTCCCCATAGTGAAAAAGTAAATGCACAATTTTCAATCAAACTAGATCCCGAAAAATTCCTTTTGTGTTTTTCTTGGCATTCAGACATGACACTACTATACACAATCAGGGCATGAGTTCTGAGTCATTTTC... | AATGATAGTGTTTTACATACTTTGGTGCTGATGGAGAGAATGAGCCAAATTACTTTAGTTCTGATTACTTTGTTTTACAGATTTAATGAAACATCACCTTATGAAAGTAAAATCTATCAATGAATATTTTATTTAATAGCCTTACTTTTTGTATTGTTCTTGATAACGTTAAGATACAAATTATTTCCTTCCCCATAGTGAAAAAGTAAATGCACAATTTTCAATCAAACTAGATCCCGAAAAATTCCTTTTGTGTTTTTCTTGGCATTCAGACATGACACTACTATACACAATCAGGGCATGAGTTCTGAGTCATTTTC... |
Task1_train_11630 | 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, perinatal lethal | AATGATAGTGTTTTACATACTTTGGTGCTGATGGAGAGAATGAGCCAAATTACTTTAGTTCTGATTACTTTGTTTTACAGATTTAATGAAACATCACCTTATGAAAGTAAAATCTATCAATGAATATTTTATTTAATAGCCTTACTTTTTGTATTGTTCTTGATAACGTTAAGATACAAATTATTTCCTTCCCCATAGTGAAAAAGTAAATGCACAATTTTCAATCAAACTAGATCCCGAAAAATTCCTTTTGTGTTTTTCTTGGCATTCAGACATGACACTACTATACACAATCAGGGCATGAGTTCTGAGTCATTTTC... | AATGATAGTGTTTTACATACTTTGGTGCTGATGGAGAGAATGAGCCAAATTACTTTAGTTCTGATTACTTTGTTTTACAGATTTAATGAAACATCACCTTATGAAAGTAAAATCTATCAATGAATATTTTATTTAATAGCCTTACTTTTTGTATTGTTCTTGATAACGTTAAGATACAAATTATTTCCTTCCCCATAGTGAAAAAGTAAATGCACAATTTTCAATCAAACTAGATCCCGAAAAATTCCTTTTGTGTTTTTCTTGGCATTCAGACATGACACTACTATACACAATCAGGGCATGAGTTCTGAGTCATTTTC... |
Task1_train_11631 | 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 | AATGATAGTGTTTTACATACTTTGGTGCTGATGGAGAGAATGAGCCAAATTACTTTAGTTCTGATTACTTTGTTTTACAGATTTAATGAAACATCACCTTATGAAAGTAAAATCTATCAATGAATATTTTATTTAATAGCCTTACTTTTTGTATTGTTCTTGATAACGTTAAGATACAAATTATTTCCTTCCCCATAGTGAAAAAGTAAATGCACAATTTTCAATCAAACTAGATCCCGAAAAATTCCTTTTGTGTTTTTCTTGGCATTCAGACATGACACTACTATACACAATCAGGGCATGAGTTCTGAGTCATTTTC... | AATGATAGTGTTTTACATACTTTGGTGCTGATGGAGAGAATGAGCCAAATTACTTTAGTTCTGATTACTTTGTTTTACAGATTTAATGAAACATCACCTTATGAAAGTAAAATCTATCAATGAATATTTTATTTAATAGCCTTACTTTTTGTATTGTTCTTGATAACGTTAAGATACAAATTATTTCCTTCCCCATAGTGAAAAAGTAAATGCACAATTTTCAATCAAACTAGATCCCGAAAAATTCCTTTTGTGTTTTTCTTGGCATTCAGACATGACACTACTATACACAATCAGGGCATGAGTTCTGAGTCATTTTC... |
Task1_train_11632 | 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, classic type, 1 | CAAATTACTTTAGTTCTGATTACTTTGTTTTACAGATTTAATGAAACATCACCTTATGAAAGTAAAATCTATCAATGAATATTTTATTTAATAGCCTTACTTTTTGTATTGTTCTTGATAACGTTAAGATACAAATTATTTCCTTCCCCATAGTGAAAAAGTAAATGCACAATTTTCAATCAAACTAGATCCCGAAAAATTCCTTTTGTGTTTTTCTTGGCATTCAGACATGACACTACTATACACAATCAGGGCATGAGTTCTGAGTCATTTTCTCTCTAATTGTGATGAATGTGCCCCTATTTAGTTACATTCTGTGG... | CAAATTACTTTAGTTCTGATTACTTTGTTTTACAGATTTAATGAAACATCACCTTATGAAAGTAAAATCTATCAATGAATATTTTATTTAATAGCCTTACTTTTTGTATTGTTCTTGATAACGTTAAGATACAAATTATTTCCTTCCCCATAGTGAAAAAGTAAATGCACAATTTTCAATCAAACTAGATCCCGAAAAATTCCTTTTGTGTTTTTCTTGGCATTCAGACATGACACTACTATACACAATCAGGGCATGAGTTCTGAGTCATTTTCTCTCTAATTGTGATGAATGTGCCCCTATTTAGTTACATTCTGTGG... |
Task1_train_11633 | 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 | CAAATTACTTTAGTTCTGATTACTTTGTTTTACAGATTTAATGAAACATCACCTTATGAAAGTAAAATCTATCAATGAATATTTTATTTAATAGCCTTACTTTTTGTATTGTTCTTGATAACGTTAAGATACAAATTATTTCCTTCCCCATAGTGAAAAAGTAAATGCACAATTTTCAATCAAACTAGATCCCGAAAAATTCCTTTTGTGTTTTTCTTGGCATTCAGACATGACACTACTATACACAATCAGGGCATGAGTTCTGAGTCATTTTCTCTCTAATTGTGATGAATGTGCCCCTATTTAGTTACATTCTGTGG... | CAAATTACTTTAGTTCTGATTACTTTGTTTTACAGATTTAATGAAACATCACCTTATGAAAGTAAAATCTATCAATGAATATTTTATTTAATAGCCTTACTTTTTGTATTGTTCTTGATAACGTTAAGATACAAATTATTTCCTTCCCCATAGTGAAAAAGTAAATGCACAATTTTCAATCAAACTAGATCCCGAAAAATTCCTTTTGTGTTTTTCTTGGCATTCAGACATGACACTACTATACACAATCAGGGCATGAGTTCTGAGTCATTTTCTCTCTAATTGTGATGAATGTGCCCCTATTTAGTTACATTCTGTGG... |
Task1_train_11634 | 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 | AAATTACTTTAGTTCTGATTACTTTGTTTTACAGATTTAATGAAACATCACCTTATGAAAGTAAAATCTATCAATGAATATTTTATTTAATAGCCTTACTTTTTGTATTGTTCTTGATAACGTTAAGATACAAATTATTTCCTTCCCCATAGTGAAAAAGTAAATGCACAATTTTCAATCAAACTAGATCCCGAAAAATTCCTTTTGTGTTTTTCTTGGCATTCAGACATGACACTACTATACACAATCAGGGCATGAGTTCTGAGTCATTTTCTCTCTAATTGTGATGAATGTGCCCCTATTTAGTTACATTCTGTGGC... | AAATTACTTTAGTTCTGATTACTTTGTTTTACAGATTTAATGAAACATCACCTTATGAAAGTAAAATCTATCAATGAATATTTTATTTAATAGCCTTACTTTTTGTATTGTTCTTGATAACGTTAAGATACAAATTATTTCCTTCCCCATAGTGAAAAAGTAAATGCACAATTTTCAATCAAACTAGATCCCGAAAAATTCCTTTTGTGTTTTTCTTGGCATTCAGACATGACACTACTATACACAATCAGGGCATGAGTTCTGAGTCATTTTCTCTCTAATTGTGATGAATGTGCCCCTATTTAGTTACATTCTGTGGC... |
Task1_train_11635 | 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 | TGAAATGATTAATTTGCCCTGAAAGTATTCCATCATGTCACTAGTTAACACATATGTAGGAAGCTCAAAGAACCAACTTATAACAAGGTCCTTTGAAACAGTTACAACGTGGACCTATGTGATAAATATTTTGGGCTATAGAATGCTATGCTCTAGTGATATTTAGATGTAAATTGGGAGATATTTAGATAGACAGACATATATATATATACACAAATACATATATCAAATATACATATGAATATTGTAACTGTTATATCATTATTACACAGGGTTATAAAAAGGGGGCATAGATAGGAGAATATCTAATGTTATCTACA... | TGAAATGATTAATTTGCCCTGAAAGTATTCCATCATGTCACTAGTTAACACATATGTAGGAAGCTCAAAGAACCAACTTATAACAAGGTCCTTTGAAACAGTTACAACGTGGACCTATGTGATAAATATTTTGGGCTATAGAATGCTATGCTCTAGTGATATTTAGATGTAAATTGGGAGATATTTAGATAGACAGACATATATATATATACACAAATACATATATCAAATATACATATGAATATTGTAACTGTTATATCATTATTACACAGGGTTATAAAAAGGGGGCATAGATAGGAGAATATCTAATGTTATCTACA... |
Task1_train_11636 | 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 | TGAAATGATTAATTTGCCCTGAAAGTATTCCATCATGTCACTAGTTAACACATATGTAGGAAGCTCAAAGAACCAACTTATAACAAGGTCCTTTGAAACAGTTACAACGTGGACCTATGTGATAAATATTTTGGGCTATAGAATGCTATGCTCTAGTGATATTTAGATGTAAATTGGGAGATATTTAGATAGACAGACATATATATATATACACAAATACATATATCAAATATACATATGAATATTGTAACTGTTATATCATTATTACACAGGGTTATAAAAAGGGGGCATAGATAGGAGAATATCTAATGTTATCTACA... | TGAAATGATTAATTTGCCCTGAAAGTATTCCATCATGTCACTAGTTAACACATATGTAGGAAGCTCAAAGAACCAACTTATAACAAGGTCCTTTGAAACAGTTACAACGTGGACCTATGTGATAAATATTTTGGGCTATAGAATGCTATGCTCTAGTGATATTTAGATGTAAATTGGGAGATATTTAGATAGACAGACATATATATATATACACAAATACATATATCAAATATACATATGAATATTGTAACTGTTATATCATTATTACACAGGGTTATAAAAAGGGGGCATAGATAGGAGAATATCTAATGTTATCTACA... |
Task1_train_11637 | 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 with normal sclerae, dominant form | TGAAATGATTAATTTGCCCTGAAAGTATTCCATCATGTCACTAGTTAACACATATGTAGGAAGCTCAAAGAACCAACTTATAACAAGGTCCTTTGAAACAGTTACAACGTGGACCTATGTGATAAATATTTTGGGCTATAGAATGCTATGCTCTAGTGATATTTAGATGTAAATTGGGAGATATTTAGATAGACAGACATATATATATATACACAAATACATATATCAAATATACATATGAATATTGTAACTGTTATATCATTATTACACAGGGTTATAAAAAGGGGGCATAGATAGGAGAATATCTAATGTTATCTACA... | TGAAATGATTAATTTGCCCTGAAAGTATTCCATCATGTCACTAGTTAACACATATGTAGGAAGCTCAAAGAACCAACTTATAACAAGGTCCTTTGAAACAGTTACAACGTGGACCTATGTGATAAATATTTTGGGCTATAGAATGCTATGCTCTAGTGATATTTAGATGTAAATTGGGAGATATTTAGATAGACAGACATATATATATATACACAAATACATATATCAAATATACATATGAATATTGTAACTGTTATATCATTATTACACAGGGTTATAAAAAGGGGGCATAGATAGGAGAATATCTAATGTTATCTACA... |
Task1_train_11638 | 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 III | TGAAATGATTAATTTGCCCTGAAAGTATTCCATCATGTCACTAGTTAACACATATGTAGGAAGCTCAAAGAACCAACTTATAACAAGGTCCTTTGAAACAGTTACAACGTGGACCTATGTGATAAATATTTTGGGCTATAGAATGCTATGCTCTAGTGATATTTAGATGTAAATTGGGAGATATTTAGATAGACAGACATATATATATATACACAAATACATATATCAAATATACATATGAATATTGTAACTGTTATATCATTATTACACAGGGTTATAAAAAGGGGGCATAGATAGGAGAATATCTAATGTTATCTACA... | TGAAATGATTAATTTGCCCTGAAAGTATTCCATCATGTCACTAGTTAACACATATGTAGGAAGCTCAAAGAACCAACTTATAACAAGGTCCTTTGAAACAGTTACAACGTGGACCTATGTGATAAATATTTTGGGCTATAGAATGCTATGCTCTAGTGATATTTAGATGTAAATTGGGAGATATTTAGATAGACAGACATATATATATATACACAAATACATATATCAAATATACATATGAATATTGTAACTGTTATATCATTATTACACAGGGTTATAAAAAGGGGGCATAGATAGGAGAATATCTAATGTTATCTACA... |
Task1_train_11639 | 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 I | TGAAATGATTAATTTGCCCTGAAAGTATTCCATCATGTCACTAGTTAACACATATGTAGGAAGCTCAAAGAACCAACTTATAACAAGGTCCTTTGAAACAGTTACAACGTGGACCTATGTGATAAATATTTTGGGCTATAGAATGCTATGCTCTAGTGATATTTAGATGTAAATTGGGAGATATTTAGATAGACAGACATATATATATATACACAAATACATATATCAAATATACATATGAATATTGTAACTGTTATATCATTATTACACAGGGTTATAAAAAGGGGGCATAGATAGGAGAATATCTAATGTTATCTACA... | TGAAATGATTAATTTGCCCTGAAAGTATTCCATCATGTCACTAGTTAACACATATGTAGGAAGCTCAAAGAACCAACTTATAACAAGGTCCTTTGAAACAGTTACAACGTGGACCTATGTGATAAATATTTTGGGCTATAGAATGCTATGCTCTAGTGATATTTAGATGTAAATTGGGAGATATTTAGATAGACAGACATATATATATATACACAAATACATATATCAAATATACATATGAATATTGTAACTGTTATATCATTATTACACAGGGTTATAAAAAGGGGGCATAGATAGGAGAATATCTAATGTTATCTACA... |
Task1_train_11640 | 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 | TGAAATGATTAATTTGCCCTGAAAGTATTCCATCATGTCACTAGTTAACACATATGTAGGAAGCTCAAAGAACCAACTTATAACAAGGTCCTTTGAAACAGTTACAACGTGGACCTATGTGATAAATATTTTGGGCTATAGAATGCTATGCTCTAGTGATATTTAGATGTAAATTGGGAGATATTTAGATAGACAGACATATATATATATACACAAATACATATATCAAATATACATATGAATATTGTAACTGTTATATCATTATTACACAGGGTTATAAAAAGGGGGCATAGATAGGAGAATATCTAATGTTATCTACA... | TGAAATGATTAATTTGCCCTGAAAGTATTCCATCATGTCACTAGTTAACACATATGTAGGAAGCTCAAAGAACCAACTTATAACAAGGTCCTTTGAAACAGTTACAACGTGGACCTATGTGATAAATATTTTGGGCTATAGAATGCTATGCTCTAGTGATATTTAGATGTAAATTGGGAGATATTTAGATAGACAGACATATATATATATACACAAATACATATATCAAATATACATATGAATATTGTAACTGTTATATCATTATTACACAGGGTTATAAAAAGGGGGCATAGATAGGAGAATATCTAATGTTATCTACA... |
Task1_train_11641 | 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, perinatal lethal | TTAATTTGCCCTGAAAGTATTCCATCATGTCACTAGTTAACACATATGTAGGAAGCTCAAAGAACCAACTTATAACAAGGTCCTTTGAAACAGTTACAACGTGGACCTATGTGATAAATATTTTGGGCTATAGAATGCTATGCTCTAGTGATATTTAGATGTAAATTGGGAGATATTTAGATAGACAGACATATATATATATACACAAATACATATATCAAATATACATATGAATATTGTAACTGTTATATCATTATTACACAGGGTTATAAAAAGGGGGCATAGATAGGAGAATATCTAATGTTATCTACACCTGCCAT... | TTAATTTGCCCTGAAAGTATTCCATCATGTCACTAGTTAACACATATGTAGGAAGCTCAAAGAACCAACTTATAACAAGGTCCTTTGAAACAGTTACAACGTGGACCTATGTGATAAATATTTTGGGCTATAGAATGCTATGCTCTAGTGATATTTAGATGTAAATTGGGAGATATTTAGATAGACAGACATATATATATATACACAAATACATATATCAAATATACATATGAATATTGTAACTGTTATATCATTATTACACAGGGTTATAAAAAGGGGGCATAGATAGGAGAATATCTAATGTTATCTACACCTGCCAT... |
Task1_train_11642 | 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 with normal sclerae, dominant form | TTAACACATATGTAGGAAGCTCAAAGAACCAACTTATAACAAGGTCCTTTGAAACAGTTACAACGTGGACCTATGTGATAAATATTTTGGGCTATAGAATGCTATGCTCTAGTGATATTTAGATGTAAATTGGGAGATATTTAGATAGACAGACATATATATATATACACAAATACATATATCAAATATACATATGAATATTGTAACTGTTATATCATTATTACACAGGGTTATAAAAAGGGGGCATAGATAGGAGAATATCTAATGTTATCTACACCTGCCATTGCTATTCAACTAAAATGACACAATCTTTTCTTTGA... | TTAACACATATGTAGGAAGCTCAAAGAACCAACTTATAACAAGGTCCTTTGAAACAGTTACAACGTGGACCTATGTGATAAATATTTTGGGCTATAGAATGCTATGCTCTAGTGATATTTAGATGTAAATTGGGAGATATTTAGATAGACAGACATATATATATATACACAAATACATATATCAAATATACATATGAATATTGTAACTGTTATATCATTATTACACAGGGTTATAAAAAGGGGGCATAGATAGGAGAATATCTAATGTTATCTACACCTGCCATTGCTATTCAACTAAAATGACACAATCTTTTCTTTGA... |
Task1_train_11643 | 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 | ACCAACTTATAACAAGGTCCTTTGAAACAGTTACAACGTGGACCTATGTGATAAATATTTTGGGCTATAGAATGCTATGCTCTAGTGATATTTAGATGTAAATTGGGAGATATTTAGATAGACAGACATATATATATATACACAAATACATATATCAAATATACATATGAATATTGTAACTGTTATATCATTATTACACAGGGTTATAAAAAGGGGGCATAGATAGGAGAATATCTAATGTTATCTACACCTGCCATTGCTATTCAACTAAAATGACACAATCTTTTCTTTGAATACTACACATAACTGGCATCTGTTTT... | ACCAACTTATAACAAGGTCCTTTGAAACAGTTACAACGTGGACCTATGTGATAAATATTTTGGGCTATAGAATGCTATGCTCTAGTGATATTTAGATGTAAATTGGGAGATATTTAGATAGACAGACATATATATATATACACAAATACATATATCAAATATACATATGAATATTGTAACTGTTATATCATTATTACACAGGGTTATAAAAAGGGGGCATAGATAGGAGAATATCTAATGTTATCTACACCTGCCATTGCTATTCAACTAAAATGACACAATCTTTTCTTTGAATACTACACATAACTGGCATCTGTTTT... |
Task1_train_11644 | 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 | ACCAACTTATAACAAGGTCCTTTGAAACAGTTACAACGTGGACCTATGTGATAAATATTTTGGGCTATAGAATGCTATGCTCTAGTGATATTTAGATGTAAATTGGGAGATATTTAGATAGACAGACATATATATATATACACAAATACATATATCAAATATACATATGAATATTGTAACTGTTATATCATTATTACACAGGGTTATAAAAAGGGGGCATAGATAGGAGAATATCTAATGTTATCTACACCTGCCATTGCTATTCAACTAAAATGACACAATCTTTTCTTTGAATACTACACATAACTGGCATCTGTTTT... | ACCAACTTATAACAAGGTCCTTTGAAACAGTTACAACGTGGACCTATGTGATAAATATTTTGGGCTATAGAATGCTATGCTCTAGTGATATTTAGATGTAAATTGGGAGATATTTAGATAGACAGACATATATATATATACACAAATACATATATCAAATATACATATGAATATTGTAACTGTTATATCATTATTACACAGGGTTATAAAAAGGGGGCATAGATAGGAGAATATCTAATGTTATCTACACCTGCCATTGCTATTCAACTAAAATGACACAATCTTTTCTTTGAATACTACACATAACTGGCATCTGTTTT... |
Task1_train_11645 | 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 I | CCAACTTATAACAAGGTCCTTTGAAACAGTTACAACGTGGACCTATGTGATAAATATTTTGGGCTATAGAATGCTATGCTCTAGTGATATTTAGATGTAAATTGGGAGATATTTAGATAGACAGACATATATATATATACACAAATACATATATCAAATATACATATGAATATTGTAACTGTTATATCATTATTACACAGGGTTATAAAAAGGGGGCATAGATAGGAGAATATCTAATGTTATCTACACCTGCCATTGCTATTCAACTAAAATGACACAATCTTTTCTTTGAATACTACACATAACTGGCATCTGTTTTT... | CCAACTTATAACAAGGTCCTTTGAAACAGTTACAACGTGGACCTATGTGATAAATATTTTGGGCTATAGAATGCTATGCTCTAGTGATATTTAGATGTAAATTGGGAGATATTTAGATAGACAGACATATATATATATACACAAATACATATATCAAATATACATATGAATATTGTAACTGTTATATCATTATTACACAGGGTTATAAAAAGGGGGCATAGATAGGAGAATATCTAATGTTATCTACACCTGCCATTGCTATTCAACTAAAATGACACAATCTTTTCTTTGAATACTACACATAACTGGCATCTGTTTTT... |
Task1_train_11646 | 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 | CCAACTTATAACAAGGTCCTTTGAAACAGTTACAACGTGGACCTATGTGATAAATATTTTGGGCTATAGAATGCTATGCTCTAGTGATATTTAGATGTAAATTGGGAGATATTTAGATAGACAGACATATATATATATACACAAATACATATATCAAATATACATATGAATATTGTAACTGTTATATCATTATTACACAGGGTTATAAAAAGGGGGCATAGATAGGAGAATATCTAATGTTATCTACACCTGCCATTGCTATTCAACTAAAATGACACAATCTTTTCTTTGAATACTACACATAACTGGCATCTGTTTTT... | CCAACTTATAACAAGGTCCTTTGAAACAGTTACAACGTGGACCTATGTGATAAATATTTTGGGCTATAGAATGCTATGCTCTAGTGATATTTAGATGTAAATTGGGAGATATTTAGATAGACAGACATATATATATATACACAAATACATATATCAAATATACATATGAATATTGTAACTGTTATATCATTATTACACAGGGTTATAAAAAGGGGGCATAGATAGGAGAATATCTAATGTTATCTACACCTGCCATTGCTATTCAACTAAAATGACACAATCTTTTCTTTGAATACTACACATAACTGGCATCTGTTTTT... |
Task1_train_11647 | 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 | GTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGTTTGGCCCAGTCTGCCTGGAATAAGTAGACCCTTTACAATAGAAAGATAATTGTTTTTCAGATTTTTATTTATTTCCAGTTCTGTGATGACTTCCCTCTCAGTAAACAGCAATCCGATTCCAGTGGACCTGAATTATTCTAAACAAACAAACAATAGCAACAAACTGTGGGGGAAAATTCAGAGTTCCCAAAACATAAATGAATTAGTATGGGTTGTCACTCTTTTCTCCTCACGCTG... | GTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGTTTGGCCCAGTCTGCCTGGAATAAGTAGACCCTTTACAATAGAAAGATAATTGTTTTTCAGATTTTTATTTATTTCCAGTTCTGTGATGACTTCCCTCTCAGTAAACAGCAATCCGATTCCAGTGGACCTGAATTATTCTAAACAAACAAACAATAGCAACAAACTGTGGGGGAAAATTCAGAGTTCCCAAAACATAAATGAATTAGTATGGGTTGTCACTCTTTTCTCCTCACGCTG... |
Task1_train_11648 | Consider a variant on Chromosome 7 in gene COL1A2 (collagen type I alpha 2 chain). Determine its clinical classification and disease relevance. | Pathogenic; Postmenopausal osteoporosis | GAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGTTTGGCCCAGTCTGCCTGGAATAAGTAGACCCTTTACAATAGAAAGATAATTGTTTTTCAGATTTTTATTTATTTCCAGTTCTGTGATGACTTCCCTCTCAGTAAACAGCAATCCGATTCCAGTGGACCTGAATTATTCTAAACAAACAAACAATAGCAACAAACTGTGGGGGAAAATTCAGAGTTCCCAAAACATAAATGAATTAGTATGGGTTGTCACTCTTTTCTCCTCACGCTGTTTATGCTT... | GAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGTTTGGCCCAGTCTGCCTGGAATAAGTAGACCCTTTACAATAGAAAGATAATTGTTTTTCAGATTTTTATTTATTTCCAGTTCTGTGATGACTTCCCTCTCAGTAAACAGCAATCCGATTCCAGTGGACCTGAATTATTCTAAACAAACAAACAATAGCAACAAACTGTGGGGGAAAATTCAGAGTTCCCAAAACATAAATGAATTAGTATGGGTTGTCACTCTTTTCTCCTCACGCTGTTTATGCTT... |
Task1_train_11649 | 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 | GAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGTTTGGCCCAGTCTGCCTGGAATAAGTAGACCCTTTACAATAGAAAGATAATTGTTTTTCAGATTTTTATTTATTTCCAGTTCTGTGATGACTTCCCTCTCAGTAAACAGCAATCCGATTCCAGTGGACCTGAATTATTCTAAACAAACAAACAATAGCAACAAACTGTGGGGGAAAATTCAGAGTTCCCAAAACATAAATGAATTAGTATGGGTTGTCACTCTTTTCTCCTCACGCTGTTTATGCTT... | GAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGTTTGGCCCAGTCTGCCTGGAATAAGTAGACCCTTTACAATAGAAAGATAATTGTTTTTCAGATTTTTATTTATTTCCAGTTCTGTGATGACTTCCCTCTCAGTAAACAGCAATCCGATTCCAGTGGACCTGAATTATTCTAAACAAACAAACAATAGCAACAAACTGTGGGGGAAAATTCAGAGTTCCCAAAACATAAATGAATTAGTATGGGTTGTCACTCTTTTCTCCTCACGCTGTTTATGCTT... |
Task1_train_11650 | 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 | GAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGTTTGGCCCAGTCTGCCTGGAATAAGTAGACCCTTTACAATAGAAAGATAATTGTTTTTCAGATTTTTATTTATTTCCAGTTCTGTGATGACTTCCCTCTCAGTAAACAGCAATCCGATTCCAGTGGACCTGAATTATTCTAAACAAACAAACAATAGCAACAAACTGTGGGGGAAAATTCAGAGTTCCCAAAACATAAATGAATTAGTATGGGTTGTCACTCTTTTCTCCTCACGCTGTTTATGCTT... | GAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGTTTGGCCCAGTCTGCCTGGAATAAGTAGACCCTTTACAATAGAAAGATAATTGTTTTTCAGATTTTTATTTATTTCCAGTTCTGTGATGACTTCCCTCTCAGTAAACAGCAATCCGATTCCAGTGGACCTGAATTATTCTAAACAAACAAACAATAGCAACAAACTGTGGGGGAAAATTCAGAGTTCCCAAAACATAAATGAATTAGTATGGGTTGTCACTCTTTTCTCCTCACGCTGTTTATGCTT... |
Task1_train_11651 | 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 | GTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGTTTGGCCCAGTCTGCCTGGAATAAGTAGACCCTTTACAATAGAAAGATAATTGTTTTTCAGATTTTTATTTATTTCCAGTTCTGTGATGACTTCCCTCTCAGTAAACAGCAATCCGATTCCAGTGGACCTGAATTATTCTAAACAAACAAACAATAGCAACAAACTGTGGGGGAAAATTCAGAGTTCCCAAAACATAAATGAATTAGTATGGGTTGTCACTCTTTTCTCCTCACGCTGTTTATGCTTTTGTTTTAA... | GTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGTTTGGCCCAGTCTGCCTGGAATAAGTAGACCCTTTACAATAGAAAGATAATTGTTTTTCAGATTTTTATTTATTTCCAGTTCTGTGATGACTTCCCTCTCAGTAAACAGCAATCCGATTCCAGTGGACCTGAATTATTCTAAACAAACAAACAATAGCAACAAACTGTGGGGGAAAATTCAGAGTTCCCAAAACATAAATGAATTAGTATGGGTTGTCACTCTTTTCTCCTCACGCTGTTTATGCTTTTGTTTTAA... |
Task1_train_11652 | 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 | GTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGTTTGGCCCAGTCTGCCTGGAATAAGTAGACCCTTTACAATAGAAAGATAATTGTTTTTCAGATTTTTATTTATTTCCAGTTCTGTGATGACTTCCCTCTCAGTAAACAGCAATCCGATTCCAGTGGACCTGAATTATTCTAAACAAACAAACAATAGCAACAAACTGTGGGGGAAAATTCAGAGTTCCCAAAACATAAATGAATTAGTATGGGTTGTCACTCTTTTCTCCTCACGCTGTTTATGCTTTTGTTTTAA... | GTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGTTTGGCCCAGTCTGCCTGGAATAAGTAGACCCTTTACAATAGAAAGATAATTGTTTTTCAGATTTTTATTTATTTCCAGTTCTGTGATGACTTCCCTCTCAGTAAACAGCAATCCGATTCCAGTGGACCTGAATTATTCTAAACAAACAAACAATAGCAACAAACTGTGGGGGAAAATTCAGAGTTCCCAAAACATAAATGAATTAGTATGGGTTGTCACTCTTTTCTCCTCACGCTGTTTATGCTTTTGTTTTAA... |
Task1_train_11653 | 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; not provided | TCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGTTTGGCCCAGTCTGCCTGGAATAAGTAGACCCTTTACAATAGAAAGATAATTGTTTTTCAGATTTTTATTTATTTCCAGTTCTGTGATGACTTCCCTCTCAGTAAACAGCAATCCGATTCCAGTGGACCTGAATTATTCTAAACAAACAAACAATAGCAACAAACTGTGGGGGAAAATTCAGAGTTCCCAAAACATAAATGAATTAGTATGGGTTGTCACTCTTTTCTCCTCACGCTGTTTATGCTTTTGTTTTAAT... | TCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGTTTGGCCCAGTCTGCCTGGAATAAGTAGACCCTTTACAATAGAAAGATAATTGTTTTTCAGATTTTTATTTATTTCCAGTTCTGTGATGACTTCCCTCTCAGTAAACAGCAATCCGATTCCAGTGGACCTGAATTATTCTAAACAAACAAACAATAGCAACAAACTGTGGGGGAAAATTCAGAGTTCCCAAAACATAAATGAATTAGTATGGGTTGTCACTCTTTTCTCCTCACGCTGTTTATGCTTTTGTTTTAAT... |
Task1_train_11654 | 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 | AAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGTTTGGCCCAGTCTGCCTGGAATAAGTAGACCCTTTACAATAGAAAGATAATTGTTTTTCAGATTTTTATTTATTTCCAGTTCTGTGATGACTTCCCTCTCAGTAAACAGCAATCCGATTCCAGTGGACCTGAATTATTCTAAACAAACAAACAATAGCAACAAACTGTGGGGGAAAATTCAGAGTTCCCAAAACATAAATGAATTAGTATGGGTTGTCACTCTTTTCTCCTCACGCTGTTTATGCTTTTGTTTTAATCTAGAAACATTGTATTCATTGGACATT... | AAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGTTTGGCCCAGTCTGCCTGGAATAAGTAGACCCTTTACAATAGAAAGATAATTGTTTTTCAGATTTTTATTTATTTCCAGTTCTGTGATGACTTCCCTCTCAGTAAACAGCAATCCGATTCCAGTGGACCTGAATTATTCTAAACAAACAAACAATAGCAACAAACTGTGGGGGAAAATTCAGAGTTCCCAAAACATAAATGAATTAGTATGGGTTGTCACTCTTTTCTCCTCACGCTGTTTATGCTTTTGTTTTAATCTAGAAACATTGTATTCATTGGACATT... |
Task1_train_11655 | 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 | AAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGTTTGGCCCAGTCTGCCTGGAATAAGTAGACCCTTTACAATAGAAAGATAATTGTTTTTCAGATTTTTATTTATTTCCAGTTCTGTGATGACTTCCCTCTCAGTAAACAGCAATCCGATTCCAGTGGACCTGAATTATTCTAAACAAACAAACAATAGCAACAAACTGTGGGGGAAAATTCAGAGTTCCCAAAACATAAATGAATTAGTATGGGTTGTCACTCTTTTCTCCTCACGCTGTTTATGCTTTTGTTTTAATCTAGAAACATTGTATTCATTGGACATT... | AAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGTTTGGCCCAGTCTGCCTGGAATAAGTAGACCCTTTACAATAGAAAGATAATTGTTTTTCAGATTTTTATTTATTTCCAGTTCTGTGATGACTTCCCTCTCAGTAAACAGCAATCCGATTCCAGTGGACCTGAATTATTCTAAACAAACAAACAATAGCAACAAACTGTGGGGGAAAATTCAGAGTTCCCAAAACATAAATGAATTAGTATGGGTTGTCACTCTTTTCTCCTCACGCTGTTTATGCTTTTGTTTTAATCTAGAAACATTGTATTCATTGGACATT... |
Task1_train_11656 | 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 | TCTCCATGCCTGCCATCCTTAAGAGGACTGAAGCAGGTTATAGAGGAATCGCAGCTGTGCACTCCCACTACCCTCATCTCTTCAGTCACCATGTCATTAACAGCATCTCTCTCTGCTATATTCTCCCTCCTTTCAATAGCCCAGCCTTCTTTGTGTTTCAAAGCAGGCAAGAAGCCTGTCTAGCTAGCTGTTTAAATTGGAATTCTTCTAGAGTTTGATTCTTCATTTTCTTCTTTCTCCACTAAAATTGATTTCACATGTGTTTGACTCAAGGGTGAACCTGGTGTGGTTGGTGCTGTGGGCACTGCTGGTCCATCTGG... | TCTCCATGCCTGCCATCCTTAAGAGGACTGAAGCAGGTTATAGAGGAATCGCAGCTGTGCACTCCCACTACCCTCATCTCTTCAGTCACCATGTCATTAACAGCATCTCTCTCTGCTATATTCTCCCTCCTTTCAATAGCCCAGCCTTCTTTGTGTTTCAAAGCAGGCAAGAAGCCTGTCTAGCTAGCTGTTTAAATTGGAATTCTTCTAGAGTTTGATTCTTCATTTTCTTCTTTCTCCACTAAAATTGATTTCACATGTGTTTGACTCAAGGGTGAACCTGGTGTGGTTGGTGCTGTGGGCACTGCTGGTCCATCTGG... |
Task1_train_11657 | 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 | TCTCCATGCCTGCCATCCTTAAGAGGACTGAAGCAGGTTATAGAGGAATCGCAGCTGTGCACTCCCACTACCCTCATCTCTTCAGTCACCATGTCATTAACAGCATCTCTCTCTGCTATATTCTCCCTCCTTTCAATAGCCCAGCCTTCTTTGTGTTTCAAAGCAGGCAAGAAGCCTGTCTAGCTAGCTGTTTAAATTGGAATTCTTCTAGAGTTTGATTCTTCATTTTCTTCTTTCTCCACTAAAATTGATTTCACATGTGTTTGACTCAAGGGTGAACCTGGTGTGGTTGGTGCTGTGGGCACTGCTGGTCCATCTGG... | TCTCCATGCCTGCCATCCTTAAGAGGACTGAAGCAGGTTATAGAGGAATCGCAGCTGTGCACTCCCACTACCCTCATCTCTTCAGTCACCATGTCATTAACAGCATCTCTCTCTGCTATATTCTCCCTCCTTTCAATAGCCCAGCCTTCTTTGTGTTTCAAAGCAGGCAAGAAGCCTGTCTAGCTAGCTGTTTAAATTGGAATTCTTCTAGAGTTTGATTCTTCATTTTCTTCTTTCTCCACTAAAATTGATTTCACATGTGTTTGACTCAAGGGTGAACCTGGTGTGGTTGGTGCTGTGGGCACTGCTGGTCCATCTGG... |
Task1_train_11658 | 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 | TTAAGAGGACTGAAGCAGGTTATAGAGGAATCGCAGCTGTGCACTCCCACTACCCTCATCTCTTCAGTCACCATGTCATTAACAGCATCTCTCTCTGCTATATTCTCCCTCCTTTCAATAGCCCAGCCTTCTTTGTGTTTCAAAGCAGGCAAGAAGCCTGTCTAGCTAGCTGTTTAAATTGGAATTCTTCTAGAGTTTGATTCTTCATTTTCTTCTTTCTCCACTAAAATTGATTTCACATGTGTTTGACTCAAGGGTGAACCTGGTGTGGTTGGTGCTGTGGGCACTGCTGGTCCATCTGGTCCTAGTGGACTCCCAGG... | TTAAGAGGACTGAAGCAGGTTATAGAGGAATCGCAGCTGTGCACTCCCACTACCCTCATCTCTTCAGTCACCATGTCATTAACAGCATCTCTCTCTGCTATATTCTCCCTCCTTTCAATAGCCCAGCCTTCTTTGTGTTTCAAAGCAGGCAAGAAGCCTGTCTAGCTAGCTGTTTAAATTGGAATTCTTCTAGAGTTTGATTCTTCATTTTCTTCTTTCTCCACTAAAATTGATTTCACATGTGTTTGACTCAAGGGTGAACCTGGTGTGGTTGGTGCTGTGGGCACTGCTGGTCCATCTGGTCCTAGTGGACTCCCAGG... |
Task1_train_11659 | 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 | CTGAAGCAGGTTATAGAGGAATCGCAGCTGTGCACTCCCACTACCCTCATCTCTTCAGTCACCATGTCATTAACAGCATCTCTCTCTGCTATATTCTCCCTCCTTTCAATAGCCCAGCCTTCTTTGTGTTTCAAAGCAGGCAAGAAGCCTGTCTAGCTAGCTGTTTAAATTGGAATTCTTCTAGAGTTTGATTCTTCATTTTCTTCTTTCTCCACTAAAATTGATTTCACATGTGTTTGACTCAAGGGTGAACCTGGTGTGGTTGGTGCTGTGGGCACTGCTGGTCCATCTGGTCCTAGTGGACTCCCAGGAGAGAGGGG... | CTGAAGCAGGTTATAGAGGAATCGCAGCTGTGCACTCCCACTACCCTCATCTCTTCAGTCACCATGTCATTAACAGCATCTCTCTCTGCTATATTCTCCCTCCTTTCAATAGCCCAGCCTTCTTTGTGTTTCAAAGCAGGCAAGAAGCCTGTCTAGCTAGCTGTTTAAATTGGAATTCTTCTAGAGTTTGATTCTTCATTTTCTTCTTTCTCCACTAAAATTGATTTCACATGTGTTTGACTCAAGGGTGAACCTGGTGTGGTTGGTGCTGTGGGCACTGCTGGTCCATCTGGTCCTAGTGGACTCCCAGGAGAGAGGGG... |
Task1_train_11660 | 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 | GCAGCCCATTGTGATGTTGCCTTACAATTCTGTCCACATGAATCTGTACCTTGCTTGATTATGCTTCAGGAGAGTGTACGGAAATTAGAAAAGATTGTTTAACAATAATCTGGAAATGGCCTTGAATTATTTTTTCCTCATTATTTTTCTCGATTAACATTCTACAGAATGGTAAGGAATCGAGACATTGCTAAAAATCTTAAATGACTGAAGGTATCATAGCATCTTCTGTAAAAAAGAAAAAAACTTCATATTAATTTCGATTCAAAATTTTGGTCAGAAAACAAAAAGTTGCTCTTGCTTTATACTTTCAGGGTGAA... | GCAGCCCATTGTGATGTTGCCTTACAATTCTGTCCACATGAATCTGTACCTTGCTTGATTATGCTTCAGGAGAGTGTACGGAAATTAGAAAAGATTGTTTAACAATAATCTGGAAATGGCCTTGAATTATTTTTTCCTCATTATTTTTCTCGATTAACATTCTACAGAATGGTAAGGAATCGAGACATTGCTAAAAATCTTAAATGACTGAAGGTATCATAGCATCTTCTGTAAAAAAGAAAAAAACTTCATATTAATTTCGATTCAAAATTTTGGTCAGAAAACAAAAAGTTGCTCTTGCTTTATACTTTCAGGGTGAA... |
Task1_train_11661 | 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 | CAGCCCATTGTGATGTTGCCTTACAATTCTGTCCACATGAATCTGTACCTTGCTTGATTATGCTTCAGGAGAGTGTACGGAAATTAGAAAAGATTGTTTAACAATAATCTGGAAATGGCCTTGAATTATTTTTTCCTCATTATTTTTCTCGATTAACATTCTACAGAATGGTAAGGAATCGAGACATTGCTAAAAATCTTAAATGACTGAAGGTATCATAGCATCTTCTGTAAAAAAGAAAAAAACTTCATATTAATTTCGATTCAAAATTTTGGTCAGAAAACAAAAAGTTGCTCTTGCTTTATACTTTCAGGGTGAAC... | CAGCCCATTGTGATGTTGCCTTACAATTCTGTCCACATGAATCTGTACCTTGCTTGATTATGCTTCAGGAGAGTGTACGGAAATTAGAAAAGATTGTTTAACAATAATCTGGAAATGGCCTTGAATTATTTTTTCCTCATTATTTTTCTCGATTAACATTCTACAGAATGGTAAGGAATCGAGACATTGCTAAAAATCTTAAATGACTGAAGGTATCATAGCATCTTCTGTAAAAAAGAAAAAAACTTCATATTAATTTCGATTCAAAATTTTGGTCAGAAAACAAAAAGTTGCTCTTGCTTTATACTTTCAGGGTGAAC... |
Task1_train_11662 | 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 | CAGCCCATTGTGATGTTGCCTTACAATTCTGTCCACATGAATCTGTACCTTGCTTGATTATGCTTCAGGAGAGTGTACGGAAATTAGAAAAGATTGTTTAACAATAATCTGGAAATGGCCTTGAATTATTTTTTCCTCATTATTTTTCTCGATTAACATTCTACAGAATGGTAAGGAATCGAGACATTGCTAAAAATCTTAAATGACTGAAGGTATCATAGCATCTTCTGTAAAAAAGAAAAAAACTTCATATTAATTTCGATTCAAAATTTTGGTCAGAAAACAAAAAGTTGCTCTTGCTTTATACTTTCAGGGTGAAC... | CAGCCCATTGTGATGTTGCCTTACAATTCTGTCCACATGAATCTGTACCTTGCTTGATTATGCTTCAGGAGAGTGTACGGAAATTAGAAAAGATTGTTTAACAATAATCTGGAAATGGCCTTGAATTATTTTTTCCTCATTATTTTTCTCGATTAACATTCTACAGAATGGTAAGGAATCGAGACATTGCTAAAAATCTTAAATGACTGAAGGTATCATAGCATCTTCTGTAAAAAAGAAAAAAACTTCATATTAATTTCGATTCAAAATTTTGGTCAGAAAACAAAAAGTTGCTCTTGCTTTATACTTTCAGGGTGAAC... |
Task1_train_11663 | 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 | GCCTTACAATTCTGTCCACATGAATCTGTACCTTGCTTGATTATGCTTCAGGAGAGTGTACGGAAATTAGAAAAGATTGTTTAACAATAATCTGGAAATGGCCTTGAATTATTTTTTCCTCATTATTTTTCTCGATTAACATTCTACAGAATGGTAAGGAATCGAGACATTGCTAAAAATCTTAAATGACTGAAGGTATCATAGCATCTTCTGTAAAAAAGAAAAAAACTTCATATTAATTTCGATTCAAAATTTTGGTCAGAAAACAAAAAGTTGCTCTTGCTTTATACTTTCAGGGTGAACCTGGTCTCAGAGGTGAA... | GCCTTACAATTCTGTCCACATGAATCTGTACCTTGCTTGATTATGCTTCAGGAGAGTGTACGGAAATTAGAAAAGATTGTTTAACAATAATCTGGAAATGGCCTTGAATTATTTTTTCCTCATTATTTTTCTCGATTAACATTCTACAGAATGGTAAGGAATCGAGACATTGCTAAAAATCTTAAATGACTGAAGGTATCATAGCATCTTCTGTAAAAAAGAAAAAAACTTCATATTAATTTCGATTCAAAATTTTGGTCAGAAAACAAAAAGTTGCTCTTGCTTTATACTTTCAGGGTGAACCTGGTCTCAGAGGTGAA... |
Task1_train_11664 | 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; Ehlers-Danlos syndrome, classic type, 1 | GCCTTACAATTCTGTCCACATGAATCTGTACCTTGCTTGATTATGCTTCAGGAGAGTGTACGGAAATTAGAAAAGATTGTTTAACAATAATCTGGAAATGGCCTTGAATTATTTTTTCCTCATTATTTTTCTCGATTAACATTCTACAGAATGGTAAGGAATCGAGACATTGCTAAAAATCTTAAATGACTGAAGGTATCATAGCATCTTCTGTAAAAAAGAAAAAAACTTCATATTAATTTCGATTCAAAATTTTGGTCAGAAAACAAAAAGTTGCTCTTGCTTTATACTTTCAGGGTGAACCTGGTCTCAGAGGTGAA... | GCCTTACAATTCTGTCCACATGAATCTGTACCTTGCTTGATTATGCTTCAGGAGAGTGTACGGAAATTAGAAAAGATTGTTTAACAATAATCTGGAAATGGCCTTGAATTATTTTTTCCTCATTATTTTTCTCGATTAACATTCTACAGAATGGTAAGGAATCGAGACATTGCTAAAAATCTTAAATGACTGAAGGTATCATAGCATCTTCTGTAAAAAAGAAAAAAACTTCATATTAATTTCGATTCAAAATTTTGGTCAGAAAACAAAAAGTTGCTCTTGCTTTATACTTTCAGGGTGAACCTGGTCTCAGAGGTGAA... |
Task1_train_11665 | 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 | GCCTTACAATTCTGTCCACATGAATCTGTACCTTGCTTGATTATGCTTCAGGAGAGTGTACGGAAATTAGAAAAGATTGTTTAACAATAATCTGGAAATGGCCTTGAATTATTTTTTCCTCATTATTTTTCTCGATTAACATTCTACAGAATGGTAAGGAATCGAGACATTGCTAAAAATCTTAAATGACTGAAGGTATCATAGCATCTTCTGTAAAAAAGAAAAAAACTTCATATTAATTTCGATTCAAAATTTTGGTCAGAAAACAAAAAGTTGCTCTTGCTTTATACTTTCAGGGTGAACCTGGTCTCAGAGGTGAA... | GCCTTACAATTCTGTCCACATGAATCTGTACCTTGCTTGATTATGCTTCAGGAGAGTGTACGGAAATTAGAAAAGATTGTTTAACAATAATCTGGAAATGGCCTTGAATTATTTTTTCCTCATTATTTTTCTCGATTAACATTCTACAGAATGGTAAGGAATCGAGACATTGCTAAAAATCTTAAATGACTGAAGGTATCATAGCATCTTCTGTAAAAAAGAAAAAAACTTCATATTAATTTCGATTCAAAATTTTGGTCAGAAAACAAAAAGTTGCTCTTGCTTTATACTTTCAGGGTGAACCTGGTCTCAGAGGTGAA... |
Task1_train_11666 | 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; Osteogenesis imperfecta type I | GCCTTACAATTCTGTCCACATGAATCTGTACCTTGCTTGATTATGCTTCAGGAGAGTGTACGGAAATTAGAAAAGATTGTTTAACAATAATCTGGAAATGGCCTTGAATTATTTTTTCCTCATTATTTTTCTCGATTAACATTCTACAGAATGGTAAGGAATCGAGACATTGCTAAAAATCTTAAATGACTGAAGGTATCATAGCATCTTCTGTAAAAAAGAAAAAAACTTCATATTAATTTCGATTCAAAATTTTGGTCAGAAAACAAAAAGTTGCTCTTGCTTTATACTTTCAGGGTGAACCTGGTCTCAGAGGTGAA... | GCCTTACAATTCTGTCCACATGAATCTGTACCTTGCTTGATTATGCTTCAGGAGAGTGTACGGAAATTAGAAAAGATTGTTTAACAATAATCTGGAAATGGCCTTGAATTATTTTTTCCTCATTATTTTTCTCGATTAACATTCTACAGAATGGTAAGGAATCGAGACATTGCTAAAAATCTTAAATGACTGAAGGTATCATAGCATCTTCTGTAAAAAAGAAAAAAACTTCATATTAATTTCGATTCAAAATTTTGGTCAGAAAACAAAAAGTTGCTCTTGCTTTATACTTTCAGGGTGAACCTGGTCTCAGAGGTGAA... |
Task1_train_11667 | 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; not provided | CCTTACAATTCTGTCCACATGAATCTGTACCTTGCTTGATTATGCTTCAGGAGAGTGTACGGAAATTAGAAAAGATTGTTTAACAATAATCTGGAAATGGCCTTGAATTATTTTTTCCTCATTATTTTTCTCGATTAACATTCTACAGAATGGTAAGGAATCGAGACATTGCTAAAAATCTTAAATGACTGAAGGTATCATAGCATCTTCTGTAAAAAAGAAAAAAACTTCATATTAATTTCGATTCAAAATTTTGGTCAGAAAACAAAAAGTTGCTCTTGCTTTATACTTTCAGGGTGAACCTGGTCTCAGAGGTGAAA... | CCTTACAATTCTGTCCACATGAATCTGTACCTTGCTTGATTATGCTTCAGGAGAGTGTACGGAAATTAGAAAAGATTGTTTAACAATAATCTGGAAATGGCCTTGAATTATTTTTTCCTCATTATTTTTCTCGATTAACATTCTACAGAATGGTAAGGAATCGAGACATTGCTAAAAATCTTAAATGACTGAAGGTATCATAGCATCTTCTGTAAAAAAGAAAAAAACTTCATATTAATTTCGATTCAAAATTTTGGTCAGAAAACAAAAAGTTGCTCTTGCTTTATACTTTCAGGGTGAACCTGGTCTCAGAGGTGAAA... |
Task1_train_11668 | 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; not provided | ATGGTAAGGAATCGAGACATTGCTAAAAATCTTAAATGACTGAAGGTATCATAGCATCTTCTGTAAAAAAGAAAAAAACTTCATATTAATTTCGATTCAAAATTTTGGTCAGAAAACAAAAAGTTGCTCTTGCTTTATACTTTCAGGGTGAACCTGGTCTCAGAGGTGAAATTGGTAACCCTGGCAGAGATGGTGCTCGTGTGAGTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATAT... | ATGGTAAGGAATCGAGACATTGCTAAAAATCTTAAATGACTGAAGGTATCATAGCATCTTCTGTAAAAAAGAAAAAAACTTCATATTAATTTCGATTCAAAATTTTGGTCAGAAAACAAAAAGTTGCTCTTGCTTTATACTTTCAGGGTGAACCTGGTCTCAGAGGTGAAATTGGTAACCCTGGCAGAGATGGTGCTCGTGTGAGTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATAT... |
Task1_train_11669 | 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 | GAATCGAGACATTGCTAAAAATCTTAAATGACTGAAGGTATCATAGCATCTTCTGTAAAAAAGAAAAAAACTTCATATTAATTTCGATTCAAAATTTTGGTCAGAAAACAAAAAGTTGCTCTTGCTTTATACTTTCAGGGTGAACCTGGTCTCAGAGGTGAAATTGGTAACCCTGGCAGAGATGGTGCTCGTGTGAGTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCT... | GAATCGAGACATTGCTAAAAATCTTAAATGACTGAAGGTATCATAGCATCTTCTGTAAAAAAGAAAAAAACTTCATATTAATTTCGATTCAAAATTTTGGTCAGAAAACAAAAAGTTGCTCTTGCTTTATACTTTCAGGGTGAACCTGGTCTCAGAGGTGAAATTGGTAACCCTGGCAGAGATGGTGCTCGTGTGAGTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCT... |
Task1_train_11670 | 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 | GAATCGAGACATTGCTAAAAATCTTAAATGACTGAAGGTATCATAGCATCTTCTGTAAAAAAGAAAAAAACTTCATATTAATTTCGATTCAAAATTTTGGTCAGAAAACAAAAAGTTGCTCTTGCTTTATACTTTCAGGGTGAACCTGGTCTCAGAGGTGAAATTGGTAACCCTGGCAGAGATGGTGCTCGTGTGAGTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCT... | GAATCGAGACATTGCTAAAAATCTTAAATGACTGAAGGTATCATAGCATCTTCTGTAAAAAAGAAAAAAACTTCATATTAATTTCGATTCAAAATTTTGGTCAGAAAACAAAAAGTTGCTCTTGCTTTATACTTTCAGGGTGAACCTGGTCTCAGAGGTGAAATTGGTAACCCTGGCAGAGATGGTGCTCGTGTGAGTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCT... |
Task1_train_11671 | A sequence alteration has been identified in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TTTCAGGGTGAACCTGGTCTCAGAGGTGAAATTGGTAACCCTGGCAGAGATGGTGCTCGTGTGAGTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTAT... | TTTCAGGGTGAACCTGGTCTCAGAGGTGAAATTGGTAACCCTGGCAGAGATGGTGCTCGTGTGAGTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTAT... |
Task1_train_11672 | 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 | TTTCAGGGTGAACCTGGTCTCAGAGGTGAAATTGGTAACCCTGGCAGAGATGGTGCTCGTGTGAGTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTAT... | TTTCAGGGTGAACCTGGTCTCAGAGGTGAAATTGGTAACCCTGGCAGAGATGGTGCTCGTGTGAGTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTAT... |
Task1_train_11673 | 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 | CTCAGAGGTGAAATTGGTAACCCTGGCAGAGATGGTGCTCGTGTGAGTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTATAGACCAAAAGCTTTAGGT... | CTCAGAGGTGAAATTGGTAACCCTGGCAGAGATGGTGCTCGTGTGAGTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTATAGACCAAAAGCTTTAGGT... |
Task1_train_11674 | 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 | CTCAGAGGTGAAATTGGTAACCCTGGCAGAGATGGTGCTCGTGTGAGTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTATAGACCAAAAGCTTTAGGT... | CTCAGAGGTGAAATTGGTAACCCTGGCAGAGATGGTGCTCGTGTGAGTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTATAGACCAAAAGCTTTAGGT... |
Task1_train_11675 | 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, classic type, 1 | CTCAGAGGTGAAATTGGTAACCCTGGCAGAGATGGTGCTCGTGTGAGTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTATAGACCAAAAGCTTTAGGT... | CTCAGAGGTGAAATTGGTAACCCTGGCAGAGATGGTGCTCGTGTGAGTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTATAGACCAAAAGCTTTAGGT... |
Task1_train_11676 | 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 | GAAATTGGTAACCCTGGCAGAGATGGTGCTCGTGTGAGTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTATAGACCAAAAGCTTTAGGTTTAATAGAA... | GAAATTGGTAACCCTGGCAGAGATGGTGCTCGTGTGAGTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTATAGACCAAAAGCTTTAGGTTTAATAGAA... |
Task1_train_11677 | 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 | GAAATTGGTAACCCTGGCAGAGATGGTGCTCGTGTGAGTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTATAGACCAAAAGCTTTAGGTTTAATAGAA... | GAAATTGGTAACCCTGGCAGAGATGGTGCTCGTGTGAGTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTATAGACCAAAAGCTTTAGGTTTAATAGAA... |
Task1_train_11678 | 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; Ehlers-Danlos syndrome, classic type, 1 | GAAATTGGTAACCCTGGCAGAGATGGTGCTCGTGTGAGTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTATAGACCAAAAGCTTTAGGTTTAATAGAA... | GAAATTGGTAACCCTGGCAGAGATGGTGCTCGTGTGAGTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTATAGACCAAAAGCTTTAGGTTTAATAGAA... |
Task1_train_11679 | 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 | GAAATTGGTAACCCTGGCAGAGATGGTGCTCGTGTGAGTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTATAGACCAAAAGCTTTAGGTTTAATAGAA... | GAAATTGGTAACCCTGGCAGAGATGGTGCTCGTGTGAGTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTATAGACCAAAAGCTTTAGGTTTAATAGAA... |
Task1_train_11680 | 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; Osteogenesis imperfecta type I | AGTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTATAGACCAAAAGCTTTAGGTTTAATAGAATATTAAATGATTGCTTCAAGTGATAACAGAGATTAA... | AGTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTATAGACCAAAAGCTTTAGGTTTAATAGAATATTAAATGATTGCTTCAAGTGATAACAGAGATTAA... |
Task1_train_11681 | 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 | AGTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTATAGACCAAAAGCTTTAGGTTTAATAGAATATTAAATGATTGCTTCAAGTGATAACAGAGATTAA... | AGTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTATAGACCAAAAGCTTTAGGTTTAATAGAATATTAAATGATTGCTTCAAGTGATAACAGAGATTAA... |
Task1_train_11682 | 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 | GTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTATAGACCAAAAGCTTTAGGTTTAATAGAATATTAAATGATTGCTTCAAGTGATAACAGAGATTAAA... | GTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTATAGACCAAAAGCTTTAGGTTTAATAGAATATTAAATGATTGCTTCAAGTGATAACAGAGATTAAA... |
Task1_train_11683 | 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 | GTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTATAGACCAAAAGCTTTAGGTTTAATAGAATATTAAATGATTGCTTCAAGTGATAACAGAGATTAAA... | GTAGAATTTTGTTTGTATGTTTCTTCGTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTATAGACCAAAAGCTTTAGGTTTAATAGAATATTAAATGATTGCTTCAAGTGATAACAGAGATTAAA... |
Task1_train_11684 | 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; Osteogenesis imperfecta type I | GTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTATAGACCAAAAGCTTTAGGTTTAATAGAATATTAAATGATTGCTTCAAGTGATAACAGAGATTAAAATAAATAAATAAATAAGTCTCCTATG... | GTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTATAGACCAAAAGCTTTAGGTTTAATAGAATATTAAATGATTGCTTCAAGTGATAACAGAGATTAAAATAAATAAATAAATAAGTCTCCTATG... |
Task1_train_11685 | 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 | GTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTATAGACCAAAAGCTTTAGGTTTAATAGAATATTAAATGATTGCTTCAAGTGATAACAGAGATTAAAATAAATAAATAAATAAGTCTCCTATG... | GTACTTGGATTTTTTTTTTATGTTTGAATTGAGAAGTTTTCCAAATTAGAACTACACACACTTTATTTATCAAGTTTAATAAAATAATATTCCTTTCTCTCCTGGGTCTATGACTAATAATATCATTTTACATGTTCCAAAGGAAAAATTAAATGGGATTTAACCTCTTTGAAAATAATATCCTGAATTTTCTAACTTCCCTAGTGTCAATGATACCAACTACAAACTATAGACCAAAAGCTTTAGGTTTAATAGAATATTAAATGATTGCTTCAAGTGATAACAGAGATTAAAATAAATAAATAAATAAGTCTCCTATG... |
Task1_train_11686 | 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 I | AATTTATCACCCAAAGAGCAGCCCCAAAGATTAGCTGTTAATGCCATGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACAT... | AATTTATCACCCAAAGAGCAGCCCCAAAGATTAGCTGTTAATGCCATGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACAT... |
Task1_train_11687 | 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 | AATTTATCACCCAAAGAGCAGCCCCAAAGATTAGCTGTTAATGCCATGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACAT... | AATTTATCACCCAAAGAGCAGCCCCAAAGATTAGCTGTTAATGCCATGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACAT... |
Task1_train_11688 | 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 | AATTTATCACCCAAAGAGCAGCCCCAAAGATTAGCTGTTAATGCCATGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACAT... | AATTTATCACCCAAAGAGCAGCCCCAAAGATTAGCTGTTAATGCCATGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACAT... |
Task1_train_11689 | 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 | AATTTATCACCCAAAGAGCAGCCCCAAAGATTAGCTGTTAATGCCATGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACAT... | AATTTATCACCCAAAGAGCAGCCCCAAAGATTAGCTGTTAATGCCATGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACAT... |
Task1_train_11690 | 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 | CCCAAAGAGCAGCCCCAAAGATTAGCTGTTAATGCCATGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACATTTCCATAAC... | CCCAAAGAGCAGCCCCAAAGATTAGCTGTTAATGCCATGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACATTTCCATAAC... |
Task1_train_11691 | 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 | CCCAAAGAGCAGCCCCAAAGATTAGCTGTTAATGCCATGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACATTTCCATAAC... | CCCAAAGAGCAGCCCCAAAGATTAGCTGTTAATGCCATGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACATTTCCATAAC... |
Task1_train_11692 | 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; Osteogenesis imperfecta, perinatal lethal | CCCAAAGAGCAGCCCCAAAGATTAGCTGTTAATGCCATGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACATTTCCATAAC... | CCCAAAGAGCAGCCCCAAAGATTAGCTGTTAATGCCATGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACATTTCCATAAC... |
Task1_train_11693 | 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 | CAGCCCCAAAGATTAGCTGTTAATGCCATGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACATTTCCATAACCTTTATTAC... | CAGCCCCAAAGATTAGCTGTTAATGCCATGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACATTTCCATAACCTTTATTAC... |
Task1_train_11694 | 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 | AGATTAGCTGTTAATGCCATGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACATTTCCATAACCTTTATTACTGGAGTACC... | AGATTAGCTGTTAATGCCATGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACATTTCCATAACCTTTATTACTGGAGTACC... |
Task1_train_11695 | 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 | AGATTAGCTGTTAATGCCATGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACATTTCCATAACCTTTATTACTGGAGTACC... | AGATTAGCTGTTAATGCCATGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACATTTCCATAACCTTTATTACTGGAGTACC... |
Task1_train_11696 | 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 | GTTAATGCCATGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACATTTCCATAACCTTTATTACTGGAGTACCCTCCTTCTG... | GTTAATGCCATGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACATTTCCATAACCTTTATTACTGGAGTACCCTCCTTCTG... |
Task1_train_11697 | 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; Ehlers-Danlos syndrome, classic type, 1 | ATGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACATTTCCATAACCTTTATTACTGGAGTACCCTCCTTCTGAGAGTGGCT... | ATGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACATTTCCATAACCTTTATTACTGGAGTACCCTCCTTCTGAGAGTGGCT... |
Task1_train_11698 | 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 | ATGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACATTTCCATAACCTTTATTACTGGAGTACCCTCCTTCTGAGAGTGGCT... | ATGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACATTTCCATAACCTTTATTACTGGAGTACCCTCCTTCTGAGAGTGGCT... |
Task1_train_11699 | 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 | TGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACATTTCCATAACCTTTATTACTGGAGTACCCTCCTTCTGAGAGTGGCTT... | TGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACATTTCCATAACCTTTATTACTGGAGTACCCTCCTTCTGAGAGTGGCTT... |
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