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_24900 | Here is a genetic alteration in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Osteogenesis imperfecta type I | TCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTG... | TCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTG... |
Task1_train_24901 | This variant lies on Chromosome 17 and affects the gene COL1A1 (collagen type I alpha 1 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Osteogenesis imperfecta type I | TCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCAT... | TCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCAT... |
Task1_train_24902 | This sequence change occurs on Chromosome 17, altering COL1A1 (collagen type I alpha 1 chain). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Osteogenesis imperfecta, perinatal lethal | CCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCA... | CCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCA... |
Task1_train_24903 | With a mutation on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; OSTEOGENESIS IMPERFECTA, TYPE IIC | GGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCA... | GGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCA... |
Task1_train_24904 | A change on Chromosome 17 affects gene COL1A1 (collagen type I alpha 1 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | GGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAA... | GGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAA... |
Task1_train_24905 | Assess the clinical impact of this variant on gene COL1A1 (collagen type I alpha 1 chain), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Osteogenesis imperfecta, perinatal lethal | GCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGT... | GCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGT... |
Task1_train_24906 | A sequence alteration has been identified in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Osteogenesis imperfecta type I | GCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGT... | GCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGT... |
Task1_train_24907 | The gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Osteogenesis imperfecta type I | GGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAA... | GGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAA... |
Task1_train_24908 | This sequence variant lies in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Osteogenesis imperfecta type I | TTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGA... | TTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGA... |
Task1_train_24909 | The gene COL1A1 (collagen type I alpha 1 chain) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | TGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAA... | TGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAA... |
Task1_train_24910 | Gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Osteogenesis imperfecta type I | GCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAA... | GCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAA... |
Task1_train_24911 | With a mutation on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Osteogenesis imperfecta type III | GACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCC... | GACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCC... |
Task1_train_24912 | A variant affecting Chromosome 17, within the gene COL1A1 (collagen type I alpha 1 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | TTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGG... | TTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGG... |
Task1_train_24913 | Mutation context: Chromosome 17, Gene COL1A1 (collagen type I alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | TCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGA... | TCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGA... |
Task1_train_24914 | A variant has been detected on Chromosome 17 in COL1A1 (collagen type I alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | GGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCA... | GGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCA... |
Task1_train_24915 | This sequence change occurs on Chromosome 17, altering COL1A1 (collagen type I alpha 1 chain). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | GCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACG... | GCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACG... |
Task1_train_24916 | The gene COL1A1 (collagen type I alpha 1 chain) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Osteogenesis imperfecta, perinatal lethal | GTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAG... | GTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAG... |
Task1_train_24917 | This mutation occurs in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Osteogenesis imperfecta, perinatal lethal | ACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGT... | ACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGT... |
Task1_train_24918 | This mutation occurs in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Osteogenesis imperfecta type I | CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCT... | CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCT... |
Task1_train_24919 | A variant was discovered on Chromosome 17, affecting COL1A1 (collagen type I alpha 1 chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form | CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCT... | CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCT... |
Task1_train_24920 | Located on Chromosome 17, this mutation impacts COL1A1 (collagen type I alpha 1 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Osteogenesis imperfecta type I | CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCT... | CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCT... |
Task1_train_24921 | A mutation found in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Osteogenesis imperfecta, perinatal lethal | CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCT... | CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCT... |
Task1_train_24922 | Consider this mutation in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Osteogenesis imperfecta type III | CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCT... | CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCT... |
Task1_train_24923 | The gene COL1A1 (collagen type I alpha 1 chain) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; COL1A1-related disorder | CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCT... | CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCT... |
Task1_train_24924 | This is a variant in COL1A1 (collagen type I alpha 1 chain), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | TCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGT... | TCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGT... |
Task1_train_24925 | This mutation occurs in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Osteogenesis imperfecta, perinatal lethal | CCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTG... | CCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTG... |
Task1_train_24926 | The gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | AAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGG... | AAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGG... |
Task1_train_24927 | The variant affects gene COL1A1 (collagen type I alpha 1 chain), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Osteogenesis imperfecta type I | TCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAG... | TCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAG... |
Task1_train_24928 | Located on Chromosome 17, this mutation impacts COL1A1 (collagen type I alpha 1 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Osteogenesis imperfecta type I | CACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGG... | CACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGG... |
Task1_train_24929 | With a mutation on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Osteogenesis imperfecta type III | CACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGG... | CACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGG... |
Task1_train_24930 | Here’s a variant in COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Osteogenesis imperfecta type I | GGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCA... | GGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCA... |
Task1_train_24931 | A variant affecting Chromosome 17, within the gene COL1A1 (collagen type I alpha 1 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Osteogenesis imperfecta, perinatal lethal | ATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGA... | ATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGA... |
Task1_train_24932 | This sequence change occurs on Chromosome 17, altering COL1A1 (collagen type I alpha 1 chain). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Osteogenesis imperfecta type I | GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGG... | GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGG... |
Task1_train_24933 | A variant found in Chromosome 17 affects COL1A1 (collagen type I alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Osteogenesis imperfecta | GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGG... | GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGG... |
Task1_train_24934 | A variant found in Chromosome 17 affects COL1A1 (collagen type I alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Osteogenesis imperfecta type I | GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGG... | GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGG... |
Task1_train_24935 | A variant on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGG... | GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGG... |
Task1_train_24936 | A mutation found in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Infantile cortical hyperostosis | GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGG... | GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGG... |
Task1_train_24937 | Here’s a variant in COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Osteoporosis | GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGG... | GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGG... |
Task1_train_24938 | Given this variant in gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form | GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGG... | GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGG... |
Task1_train_24939 | The gene COL1A1 (collagen type I alpha 1 chain), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type | GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGG... | GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGG... |
Task1_train_24940 | Located on Chromosome 17, this mutation impacts COL1A1 (collagen type I alpha 1 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Osteogenesis imperfecta, perinatal lethal | GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGG... | GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGG... |
Task1_train_24941 | This mutation occurs in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Osteogenesis imperfecta type III | GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGG... | GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGG... |
Task1_train_24942 | The following genetic variant occurs in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Osteogenesis imperfecta type I | GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGG... | GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGG... |
Task1_train_24943 | Given a variant located on Chromosome 17 and affecting COL1A1 (collagen type I alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; COL1A1-related disorder | ATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGA... | ATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGA... |
Task1_train_24944 | The gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | GCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGG... | GCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGG... |
Task1_train_24945 | A mutation in COL1A1 (collagen type I alpha 1 chain), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Osteogenesis imperfecta type I | CTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGC... | CTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGC... |
Task1_train_24946 | This variant affects gene COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | TTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGG... | TTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGG... |
Task1_train_24947 | This variant affects gene COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form | GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTC... | GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTC... |
Task1_train_24948 | A variant affecting Chromosome 17, within the gene COL1A1 (collagen type I alpha 1 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type | GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTC... | GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTC... |
Task1_train_24949 | The variant affects gene COL1A1 (collagen type I alpha 1 chain), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Osteogenesis imperfecta, perinatal lethal | GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTC... | GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTC... |
Task1_train_24950 | A variant affecting Chromosome 17, within the gene COL1A1 (collagen type I alpha 1 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Osteogenesis imperfecta type III | GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTC... | GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTC... |
Task1_train_24951 | With a mutation on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Osteogenesis imperfecta type I | GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTC... | GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTC... |
Task1_train_24952 | This mutation is located in gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Infantile cortical hyperostosis | GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTC... | GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTC... |
Task1_train_24953 | Given a variant located on Chromosome 17 and affecting COL1A1 (collagen type I alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Postmenopausal osteoporosis | GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTC... | GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTC... |
Task1_train_24954 | Here is a mutation in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Osteogenesis imperfecta type I | GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTC... | GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTC... |
Task1_train_24955 | The gene COL1A1 (collagen type I alpha 1 chain), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | CAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCC... | CAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCC... |
Task1_train_24956 | Mutation context: Chromosome 17, Gene COL1A1 (collagen type I alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | GGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACC... | GGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACC... |
Task1_train_24957 | This variant affects gene COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Osteogenesis imperfecta, perinatal lethal | CCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTC... | CCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTC... |
Task1_train_24958 | This variant affects gene COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Osteogenesis imperfecta type I | CAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAG... | CAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAG... |
Task1_train_24959 | With a mutation on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Osteogenesis imperfecta, perinatal lethal | GGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACT... | GGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACT... |
Task1_train_24960 | The gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Osteogenesis imperfecta type I | TTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAG... | TTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAG... |
Task1_train_24961 | This gene mutation involves COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | TAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTT... | TAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTT... |
Task1_train_24962 | Chromosome 17 houses a mutation in gene COL1A1 (collagen type I alpha 1 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | ACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGAC... | ACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGAC... |
Task1_train_24963 | Here’s a variant in COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | TCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGA... | TCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGA... |
Task1_train_24964 | With a mutation on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; See cases | TATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGA... | TATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGA... |
Task1_train_24965 | Given a variant located on Chromosome 17 and affecting COL1A1 (collagen type I alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Osteogenesis imperfecta type III | TATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGA... | TATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGA... |
Task1_train_24966 | This gene mutation involves COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Osteogenesis imperfecta type I | TATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGA... | TATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGA... |
Task1_train_24967 | The gene COL1A1 (collagen type I alpha 1 chain) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Osteogenesis imperfecta type I | GAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCC... | GAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCC... |
Task1_train_24968 | Here is a mutation in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Osteogenesis imperfecta type I | GAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCC... | GAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCC... |
Task1_train_24969 | A mutation on Chromosome 17 affecting COL1A1 (collagen type I alpha 1 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Osteogenesis imperfecta type I | GTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTC... | GTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTC... |
Task1_train_24970 | Consider a variant on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain). Determine its clinical classification and disease relevance. | Pathogenic; Osteogenesis imperfecta, perinatal lethal | GTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTC... | GTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTC... |
Task1_train_24971 | A variant on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 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 | GGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCAC... | GGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCAC... |
Task1_train_24972 | Given a variant located on Chromosome 17 and affecting COL1A1 (collagen type I alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Osteogenesis imperfecta type I | GGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACT... | GGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACT... |
Task1_train_24973 | Given this variant in gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Osteogenesis imperfecta type III | AGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCT... | AGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCT... |
Task1_train_24974 | Mutation context: Chromosome 17, Gene COL1A1 (collagen type I alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form | AGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCT... | AGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCT... |
Task1_train_24975 | A variant was discovered in gene COL1A1 (collagen type I alpha 1 chain), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form | ATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGA... | ATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGA... |
Task1_train_24976 | A variant affecting Chromosome 17, within the gene COL1A1 (collagen type I alpha 1 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Osteogenesis imperfecta type I | ATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGA... | ATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGA... |
Task1_train_24977 | Gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Osteogenesis imperfecta, perinatal lethal | AAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGG... | AAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGG... |
Task1_train_24978 | The variant affects gene COL1A1 (collagen type I alpha 1 chain), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Osteogenesis imperfecta type I | AAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGG... | AAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGG... |
Task1_train_24979 | This alteration occurs within gene COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; COL1A1-related disorder | AAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGG... | AAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGG... |
Task1_train_24980 | This sequence variant lies in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | TTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCT... | TTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCT... |
Task1_train_24981 | This variant affects gene COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | CAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGG... | CAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGG... |
Task1_train_24982 | A genetic alteration is present in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Osteogenesis imperfecta type I | AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCA... | AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCA... |
Task1_train_24983 | Mutation context: Chromosome 17, Gene COL1A1 (collagen type I alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Osteogenesis imperfecta, perinatal lethal | AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCA... | AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCA... |
Task1_train_24984 | Consider a variant on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain). Determine its clinical classification and disease relevance. | Pathogenic; Osteogenesis imperfecta type III | AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCA... | AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCA... |
Task1_train_24985 | This alteration occurs within gene COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form | AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCA... | AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCA... |
Task1_train_24986 | The gene COL1A1 (collagen type I alpha 1 chain), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Postmenopausal osteoporosis | AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCA... | AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCA... |
Task1_train_24987 | An alteration has been detected in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Infantile cortical hyperostosis | AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCA... | AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCA... |
Task1_train_24988 | The gene COL1A1 (collagen type I alpha 1 chain) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type | AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCA... | AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCA... |
Task1_train_24989 | Mutation context: Chromosome 17, Gene COL1A1 (collagen type I alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Osteogenesis imperfecta type I | AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCA... | AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCA... |
Task1_train_24990 | Assess the clinical impact of this variant on gene COL1A1 (collagen type I alpha 1 chain), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form | CTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTC... | CTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTC... |
Task1_train_24991 | Gene COL1A1 (collagen type I alpha 1 chain), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | CCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTC... | CCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTC... |
Task1_train_24992 | With a mutation on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form | GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTT... | GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTT... |
Task1_train_24993 | A variant found in Chromosome 17 affects COL1A1 (collagen type I alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTT... | GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTT... |
Task1_train_24994 | This sequence change occurs on Chromosome 17, altering COL1A1 (collagen type I alpha 1 chain). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Osteogenesis imperfecta, perinatal lethal | GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTT... | GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTT... |
Task1_train_24995 | The gene COL1A1 (collagen type I alpha 1 chain) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Osteogenesis imperfecta type III | GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTT... | GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTT... |
Task1_train_24996 | Given a variant located on Chromosome 17 and affecting COL1A1 (collagen type I alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Infantile cortical hyperostosis | GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTT... | GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTT... |
Task1_train_24997 | A sequence alteration has been identified in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type | GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTT... | GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTT... |
Task1_train_24998 | The gene COL1A1 (collagen type I alpha 1 chain) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Osteogenesis imperfecta type I | GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTT... | GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTT... |
Task1_train_24999 | The gene COL1A1 (collagen type I alpha 1 chain), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Osteoporosis | GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTT... | GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTT... |
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