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_25100 | 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; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGG... | CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGG... |
Task1_train_25101 | 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; Infantile cortical hyperostosis | CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGG... | CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGG... |
Task1_train_25102 | 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 with normal sclerae, dominant form | CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGG... | CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGG... |
Task1_train_25103 | 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; Ehlers-Danlos syndrome, arthrochalasia type | CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGG... | CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGG... |
Task1_train_25104 | 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 I | CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGG... | CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGG... |
Task1_train_25105 | 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, perinatal lethal | CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGG... | CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGG... |
Task1_train_25106 | 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 | TCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTC... | TCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTC... |
Task1_train_25107 | 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; Infantile cortical hyperostosis | GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTT... | GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTT... |
Task1_train_25108 | 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; Ehlers-Danlos syndrome, arthrochalasia type | GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTT... | GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTT... |
Task1_train_25109 | 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; Osteogenesis imperfecta with normal sclerae, dominant form | GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTT... | GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTT... |
Task1_train_25110 | This variant affects the gene COL1A1 (collagen type I alpha 1 chain) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Postmenopausal osteoporosis | GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTT... | GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTT... |
Task1_train_25111 | 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; Osteogenesis imperfecta type I | GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTT... | GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTT... |
Task1_train_25112 | 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; Osteogenesis imperfecta, perinatal lethal | GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTT... | GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTT... |
Task1_train_25113 | 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 III | GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTT... | GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTT... |
Task1_train_25114 | Given this context: Chromosome 17, gene COL1A1 (collagen type I alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; COL1A1-related disorder | GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTT... | GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTT... |
Task1_train_25115 | 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 | GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTT... | GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTT... |
Task1_train_25116 | 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 | GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTT... | GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTT... |
Task1_train_25117 | 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 | GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTT... | GGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTT... |
Task1_train_25118 | 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 | GGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGG... | GGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGG... |
Task1_train_25119 | 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; Osteogenesis imperfecta type I | GGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGT... | GGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGT... |
Task1_train_25120 | This genomic variant is located on Chromosome 17, within the COL1A1 (collagen type I alpha 1 chain) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Osteogenesis imperfecta type I | ACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACG... | ACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACG... |
Task1_train_25121 | A mutation found in COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Osteogenesis imperfecta type I | AGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTG... | AGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTG... |
Task1_train_25122 | A variant found in Chromosome 17 affects COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Osteogenesis imperfecta type I | TGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCT... | TGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCT... |
Task1_train_25123 | A variant affecting Chromosome 17, within the gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | GTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTT... | GTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTT... |
Task1_train_25124 | A genetic alteration is present in COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | CAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCT... | CAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCT... |
Task1_train_25125 | A change on Chromosome 17 affects gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Osteogenesis imperfecta type I | TCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGG... | TCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGG... |
Task1_train_25126 | A genomic change on Chromosome 17 affects COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Osteogenesis imperfecta type I | GGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGG... | GGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGG... |
Task1_train_25127 | A genetic alteration is present in COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Osteogenesis imperfecta type I | ACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGG... | ACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGG... |
Task1_train_25128 | This alteration occurs within gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Osteogenesis imperfecta, perinatal lethal | GAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGG... | GAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGG... |
Task1_train_25129 | Given this variant in gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Osteogenesis imperfecta type I | AAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGT... | AAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGT... |
Task1_train_25130 | This is a variant in COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Infantile cortical hyperostosis | CTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGG... | CTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGG... |
Task1_train_25131 | Given a variant located on Chromosome 17 and affecting COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Osteogenesis imperfecta type I | CTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGG... | CTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGG... |
Task1_train_25132 | A genetic alteration is present in COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Osteogenesis imperfecta type I | CTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGG... | CTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGG... |
Task1_train_25133 | A variant on Chromosome 17 in gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Osteogenesis imperfecta type I | TCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAG... | TCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAG... |
Task1_train_25134 | The variant affects gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901), 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 | TTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGG... | TTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGG... |
Task1_train_25135 | The gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Osteogenesis imperfecta type I | TTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGG... | TTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGG... |
Task1_train_25136 | This genomic variant is located on Chromosome 17, within the COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Osteogenesis imperfecta type I | TGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGG... | TGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGG... |
Task1_train_25137 | Here is a variant affecting COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Osteogenesis imperfecta | GGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGG... | GGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGG... |
Task1_train_25138 | Here is a variant affecting COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Osteogenesis imperfecta type I | CTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGG... | CTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGG... |
Task1_train_25139 | Assess the clinical impact of this variant on gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Osteogenesis imperfecta type I | TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCA... | TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCA... |
Task1_train_25140 | The gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; COL1A1-related disorder | TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCA... | TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCA... |
Task1_train_25141 | This alteration in COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Osteogenesis imperfecta | TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCA... | TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCA... |
Task1_train_25142 | The gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Osteogenesis imperfecta type I | TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCA... | TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCA... |
Task1_train_25143 | Located on Chromosome 17, this mutation impacts COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Osteoporosis | TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCA... | TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCA... |
Task1_train_25144 | Consider this mutation in COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form | TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCA... | TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCA... |
Task1_train_25145 | Here is a mutation in COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Osteogenesis imperfecta type III | TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCA... | TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCA... |
Task1_train_25146 | A variant has been detected on Chromosome 17 in COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Osteogenesis imperfecta type I | TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCA... | TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCA... |
Task1_train_25147 | This mutation is located in gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Osteogenesis imperfecta, perinatal lethal | TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCA... | TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCA... |
Task1_train_25148 | This variant lies on Chromosome 17 and affects the gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Infantile cortical hyperostosis | TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCA... | TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCA... |
Task1_train_25149 | This variant affects the gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type | TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCA... | TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCA... |
Task1_train_25150 | A variant was discovered in gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCA... | TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCA... |
Task1_train_25151 | A change on Chromosome 17 affects gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCA... | TCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCA... |
Task1_train_25152 | This variant affects the gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Osteogenesis imperfecta type III | CAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGG... | CAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGG... |
Task1_train_25153 | A change on Chromosome 17 affects gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Osteogenesis imperfecta type I | CTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTG... | CTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTG... |
Task1_train_25154 | Given this variant in gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | TGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGT... | TGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGT... |
Task1_train_25155 | Consider this mutation in COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | TGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCA... | TGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCA... |
Task1_train_25156 | This alteration occurs within gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Osteogenesis imperfecta type I | TCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTT... | TCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTT... |
Task1_train_25157 | 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 | CCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGT... | CCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGT... |
Task1_train_25158 | 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 | CAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTC... | CAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTC... |
Task1_train_25159 | 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; Osteogenesis imperfecta type I | CAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTC... | CAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTC... |
Task1_train_25160 | A genomic change on Chromosome 17 affects COL1A1 (collagen type I alpha 1 chain). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Osteogenesis imperfecta type I | CTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGG... | CTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGG... |
Task1_train_25161 | 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 | ATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGG... | ATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGG... |
Task1_train_25162 | 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 | TGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGA... | TGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGA... |
Task1_train_25163 | 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 I | TGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGA... | TGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGA... |
Task1_train_25164 | Gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Osteogenesis imperfecta type I | GTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAG... | GTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAG... |
Task1_train_25165 | This alteration in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Osteogenesis imperfecta type I | TCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGA... | TCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGA... |
Task1_train_25166 | 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 | AGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAG... | AGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAG... |
Task1_train_25167 | 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 | GCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGA... | GCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGA... |
Task1_train_25168 | 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; Ehlers-Danlos syndrome, arthrochalasia type | GAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGG... | GAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGG... |
Task1_train_25169 | 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 | GAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGG... | GAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGG... |
Task1_train_25170 | 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; Osteogenesis imperfecta type I | AGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCT... | AGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCT... |
Task1_train_25171 | 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; not provided | GGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTT... | GGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTT... |
Task1_train_25172 | This alteration in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | ACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCC... | ACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCC... |
Task1_train_25173 | 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 | CTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCT... | CTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCT... |
Task1_train_25174 | 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 | CCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTG... | CCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTG... |
Task1_train_25175 | This genomic variant is located on Chromosome 17, within the COL1A1 (collagen type I alpha 1 chain) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Osteogenesis imperfecta type I | CCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGC... | CCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGC... |
Task1_train_25176 | This variant impacts the gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Osteogenesis imperfecta type I | TAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATAT... | TAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATAT... |
Task1_train_25177 | 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 type I | AGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGC... | AGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGC... |
Task1_train_25178 | 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; Osteogenesis imperfecta type I | TGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACT... | TGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACT... |
Task1_train_25179 | 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 type I | TGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACT... | TGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACT... |
Task1_train_25180 | 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 | GGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTC... | GGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTC... |
Task1_train_25181 | 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 | GGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCG... | GGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCG... |
Task1_train_25182 | 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 | GGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCG... | GGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCG... |
Task1_train_25183 | 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 type I | GGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCG... | GGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCG... |
Task1_train_25184 | A genetic alteration is present in XYLT2 (xylosyltransferase 2) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | GAGAGCCAGCCGGCGGGTCCCACCTGCCCCACCCCCGGAAGCCCCAGGCCGCCAGAACCTGAGTGGGGCAGCAGCTGGGGAGGCGCTGGTAGGGGCAGCTGGCTTCCCACCACACGGAGATACAGGGAGCGTGGAGGGCGCCCCCCAGCCCACGGACAATGGCTTCACCCCCAAGTGCGAGATCGTGGGCAAGGACGCACTGTCTGCACTGGCCCGGGCCAGCACCAAGCAGTGCCAGCAGGAGATCGCCAATGTGGTGTGCCTGCACCAGGCTGGGAGCCTCATGCCCAAGGCTGTGCCCCGGCACTGTCAGCTGACTG... | GAGAGCCAGCCGGCGGGTCCCACCTGCCCCACCCCCGGAAGCCCCAGGCCGCCAGAACCTGAGTGGGGCAGCAGCTGGGGAGGCGCTGGTAGGGGCAGCTGGCTTCCCACCACACGGAGATACAGGGAGCGTGGAGGGCGCCCCCCAGCCCACGGACAATGGCTTCACCCCCAAGTGCGAGATCGTGGGCAAGGACGCACTGTCTGCACTGGCCCGGGCCAGCACCAAGCAGTGCCAGCAGGAGATCGCCAATGTGGTGTGCCTGCACCAGGCTGGGAGCCTCATGCCCAAGGCTGTGCCCCGGCACTGTCAGCTGACTG... |
Task1_train_25185 | The gene CACNA1G (calcium voltage-gated channel subunit alpha1 G) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | TCACAGCTCACTTTTCTCTGTCTCTGGGAATGTGTGTCCAGCTCTTCAAAGGGAAGTTTTTCGTGTGCCAGGGCGAGGATACCAGGAACATCACCAATAAATCGGACTGTGCCGAGGCCAGTTACCGGTGGGTCCGGCACAAGTACAACTTTGACAACCTTGGCCAGGTGAGCCCCAGGCTCAGAGGTGGGGCTGTGGTGAAGGAGGCTGGAGGGGGCACAGGGCCATGCTTAGTGATACCTGCTGACTCCGGTGGAGGTGGGCTCCACGAAGAGATCAGCCCTTCACACCCTCTGCTGTCTAACCACCAGCATGTCGCA... | TCACAGCTCACTTTTCTCTGTCTCTGGGAATGTGTGTCCAGCTCTTCAAAGGGAAGTTTTTCGTGTGCCAGGGCGAGGATACCAGGAACATCACCAATAAATCGGACTGTGCCGAGGCCAGTTACCGGTGGGTCCGGCACAAGTACAACTTTGACAACCTTGGCCAGGTGAGCCCCAGGCTCAGAGGTGGGGCTGTGGTGAAGGAGGCTGGAGGGGGCACAGGGCCATGCTTAGTGATACCTGCTGACTCCGGTGGAGGTGGGCTCCACGAAGAGATCAGCCCTTCACACCCTCTGCTGTCTAACCACCAGCATGTCGCA... |
Task1_train_25186 | Given this context: Chromosome 17, gene CACNA1G (calcium voltage-gated channel subunit alpha1 G) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Spinocerebellar ataxia type 42 | GGTAGGAGCGAGTGGACCAGCCATCTGGCCCCCCCACCTCCAGCTGAGGAACCTCTGGGCAAGGTTAACACAGCCTGAGCCAGGGTACCTCTGTGCCAAGCAAGTGCTAGGCACACTACATGGGTTCCTCTTGTGCCCCTTGGAGGTGGGTATCATCTTTGTTTTATAGATGAGGACACTGAGGCTCAGAGATGTTAGTTGATGTGGCCAAGGTCACACAGAAAGGGAGTGGAGGACCTGGTTTCTTCATCCAGCAAATGTTGAGCGTCTACTATGAGCTGCGCTCTGGATCTTTGAGGGTAAAAAGGCAGATGGATGCC... | GGTAGGAGCGAGTGGACCAGCCATCTGGCCCCCCCACCTCCAGCTGAGGAACCTCTGGGCAAGGTTAACACAGCCTGAGCCAGGGTACCTCTGTGCCAAGCAAGTGCTAGGCACACTACATGGGTTCCTCTTGTGCCCCTTGGAGGTGGGTATCATCTTTGTTTTATAGATGAGGACACTGAGGCTCAGAGATGTTAGTTGATGTGGCCAAGGTCACACAGAAAGGGAGTGGAGGACCTGGTTTCTTCATCCAGCAAATGTTGAGCGTCTACTATGAGCTGCGCTCTGGATCTTTGAGGGTAAAAAGGCAGATGGATGCC... |
Task1_train_25187 | Here is a variant affecting CACNA1G (calcium voltage-gated channel subunit alpha1 G) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | GGTAGGAGCGAGTGGACCAGCCATCTGGCCCCCCCACCTCCAGCTGAGGAACCTCTGGGCAAGGTTAACACAGCCTGAGCCAGGGTACCTCTGTGCCAAGCAAGTGCTAGGCACACTACATGGGTTCCTCTTGTGCCCCTTGGAGGTGGGTATCATCTTTGTTTTATAGATGAGGACACTGAGGCTCAGAGATGTTAGTTGATGTGGCCAAGGTCACACAGAAAGGGAGTGGAGGACCTGGTTTCTTCATCCAGCAAATGTTGAGCGTCTACTATGAGCTGCGCTCTGGATCTTTGAGGGTAAAAAGGCAGATGGATGCC... | GGTAGGAGCGAGTGGACCAGCCATCTGGCCCCCCCACCTCCAGCTGAGGAACCTCTGGGCAAGGTTAACACAGCCTGAGCCAGGGTACCTCTGTGCCAAGCAAGTGCTAGGCACACTACATGGGTTCCTCTTGTGCCCCTTGGAGGTGGGTATCATCTTTGTTTTATAGATGAGGACACTGAGGCTCAGAGATGTTAGTTGATGTGGCCAAGGTCACACAGAAAGGGAGTGGAGGACCTGGTTTCTTCATCCAGCAAATGTTGAGCGTCTACTATGAGCTGCGCTCTGGATCTTTGAGGGTAAAAAGGCAGATGGATGCC... |
Task1_train_25188 | The gene CACNA1G (calcium voltage-gated channel subunit alpha1 G) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Spinocerebellar ataxia type 42 | GGTAGGAGCGAGTGGACCAGCCATCTGGCCCCCCCACCTCCAGCTGAGGAACCTCTGGGCAAGGTTAACACAGCCTGAGCCAGGGTACCTCTGTGCCAAGCAAGTGCTAGGCACACTACATGGGTTCCTCTTGTGCCCCTTGGAGGTGGGTATCATCTTTGTTTTATAGATGAGGACACTGAGGCTCAGAGATGTTAGTTGATGTGGCCAAGGTCACACAGAAAGGGAGTGGAGGACCTGGTTTCTTCATCCAGCAAATGTTGAGCGTCTACTATGAGCTGCGCTCTGGATCTTTGAGGGTAAAAAGGCAGATGGATGCC... | GGTAGGAGCGAGTGGACCAGCCATCTGGCCCCCCCACCTCCAGCTGAGGAACCTCTGGGCAAGGTTAACACAGCCTGAGCCAGGGTACCTCTGTGCCAAGCAAGTGCTAGGCACACTACATGGGTTCCTCTTGTGCCCCTTGGAGGTGGGTATCATCTTTGTTTTATAGATGAGGACACTGAGGCTCAGAGATGTTAGTTGATGTGGCCAAGGTCACACAGAAAGGGAGTGGAGGACCTGGTTTCTTCATCCAGCAAATGTTGAGCGTCTACTATGAGCTGCGCTCTGGATCTTTGAGGGTAAAAAGGCAGATGGATGCC... |
Task1_train_25189 | Assess the clinical impact of this variant on gene COX11 (cytochrome c oxidase copper chaperone COX11), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Mitochondrial complex IV deficiency, nuclear type 23 | GTTCACTAATGAGAGTCATTCTTTGTGATTTTCTCATCTGTAAATAGTAAGGCTTGGGAATACAGTAGTTTATGGTATAGAAATATTAATGCTAACAAAATAGATGAGCAATAGGAGTAGCACTGAAATCAGGCATTTGTTTTTCATATGCAGTTAATACTTGTTAACCGGTACCAGTAGACCCATTTACCGTTAGTCCTCCAAATAGGTCTGAATTTTTCCTATTTTCAGCACTACTAATCCCATGTATTTACTATTTAATGGTCACCAATGAACTATCAAAACTTATTTATTCCCCTTATACCCTCCCCTATGGAAGA... | GTTCACTAATGAGAGTCATTCTTTGTGATTTTCTCATCTGTAAATAGTAAGGCTTGGGAATACAGTAGTTTATGGTATAGAAATATTAATGCTAACAAAATAGATGAGCAATAGGAGTAGCACTGAAATCAGGCATTTGTTTTTCATATGCAGTTAATACTTGTTAACCGGTACCAGTAGACCCATTTACCGTTAGTCCTCCAAATAGGTCTGAATTTTTCCTATTTTCAGCACTACTAATCCCATGTATTTACTATTTAATGGTCACCAATGAACTATCAAAACTTATTTATTCCCCTTATACCCTCCCCTATGGAAGA... |
Task1_train_25190 | This alteration occurs within gene NOG (noggin) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; NOG-related-symphlangism spectrum disorder | CAGAAAGGTAGGGCTGGAAGAGAAATCTATTAATAGTTACGTCACTAATGCGAAAAGTGAGAAAAATGACTTGTCCGAGTTATATCAGGGTGGACCCCGGGCAAGACTCAGGTGCCTCTGCTGTCAGCTCACCTTTCAAGTTTCTGGTCCCCACTCGCACCCACTGAGACCAGAGACCGATTTACCTGAGGCAGAAGGTGCTGCACGCATTCTTGTGAAATTTGAGGGGACCGAGAAGGAATCTCAGGAAGTTTGTTTACACTGGGGGCCTGGAGACCTTCGGGAAAATAGCCAGAACCAAAACGGACCAGTCAGCAGAC... | CAGAAAGGTAGGGCTGGAAGAGAAATCTATTAATAGTTACGTCACTAATGCGAAAAGTGAGAAAAATGACTTGTCCGAGTTATATCAGGGTGGACCCCGGGCAAGACTCAGGTGCCTCTGCTGTCAGCTCACCTTTCAAGTTTCTGGTCCCCACTCGCACCCACTGAGACCAGAGACCGATTTACCTGAGGCAGAAGGTGCTGCACGCATTCTTGTGAAATTTGAGGGGACCGAGAAGGAATCTCAGGAAGTTTGTTTACACTGGGGGCCTGGAGACCTTCGGGAAAATAGCCAGAACCAAAACGGACCAGTCAGCAGAC... |
Task1_train_25191 | This is a variant in NOG (noggin), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Brachydactyly type B2 | AAAATGACTTGTCCGAGTTATATCAGGGTGGACCCCGGGCAAGACTCAGGTGCCTCTGCTGTCAGCTCACCTTTCAAGTTTCTGGTCCCCACTCGCACCCACTGAGACCAGAGACCGATTTACCTGAGGCAGAAGGTGCTGCACGCATTCTTGTGAAATTTGAGGGGACCGAGAAGGAATCTCAGGAAGTTTGTTTACACTGGGGGCCTGGAGACCTTCGGGAAAATAGCCAGAACCAAAACGGACCAGTCAGCAGACGCAGACACACACAAAGTGACAGGGACACAGAAGCAGAAGCTGAACTGGGCAGAGCGGGCAGC... | AAAATGACTTGTCCGAGTTATATCAGGGTGGACCCCGGGCAAGACTCAGGTGCCTCTGCTGTCAGCTCACCTTTCAAGTTTCTGGTCCCCACTCGCACCCACTGAGACCAGAGACCGATTTACCTGAGGCAGAAGGTGCTGCACGCATTCTTGTGAAATTTGAGGGGACCGAGAAGGAATCTCAGGAAGTTTGTTTACACTGGGGGCCTGGAGACCTTCGGGAAAATAGCCAGAACCAAAACGGACCAGTCAGCAGACGCAGACACACACAAAGTGACAGGGACACAGAAGCAGAAGCTGAACTGGGCAGAGCGGGCAGC... |
Task1_train_25192 | Given a variant located on Chromosome 17 and affecting NOG (noggin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | AAAATGACTTGTCCGAGTTATATCAGGGTGGACCCCGGGCAAGACTCAGGTGCCTCTGCTGTCAGCTCACCTTTCAAGTTTCTGGTCCCCACTCGCACCCACTGAGACCAGAGACCGATTTACCTGAGGCAGAAGGTGCTGCACGCATTCTTGTGAAATTTGAGGGGACCGAGAAGGAATCTCAGGAAGTTTGTTTACACTGGGGGCCTGGAGACCTTCGGGAAAATAGCCAGAACCAAAACGGACCAGTCAGCAGACGCAGACACACACAAAGTGACAGGGACACAGAAGCAGAAGCTGAACTGGGCAGAGCGGGCAGC... | AAAATGACTTGTCCGAGTTATATCAGGGTGGACCCCGGGCAAGACTCAGGTGCCTCTGCTGTCAGCTCACCTTTCAAGTTTCTGGTCCCCACTCGCACCCACTGAGACCAGAGACCGATTTACCTGAGGCAGAAGGTGCTGCACGCATTCTTGTGAAATTTGAGGGGACCGAGAAGGAATCTCAGGAAGTTTGTTTACACTGGGGGCCTGGAGACCTTCGGGAAAATAGCCAGAACCAAAACGGACCAGTCAGCAGACGCAGACACACACAAAGTGACAGGGACACAGAAGCAGAAGCTGAACTGGGCAGAGCGGGCAGC... |
Task1_train_25193 | Consider a variant on Chromosome 17 in gene NOG (noggin). Determine its clinical classification and disease relevance. | Pathogenic; Proximal symphalangism 1A | AAATGACTTGTCCGAGTTATATCAGGGTGGACCCCGGGCAAGACTCAGGTGCCTCTGCTGTCAGCTCACCTTTCAAGTTTCTGGTCCCCACTCGCACCCACTGAGACCAGAGACCGATTTACCTGAGGCAGAAGGTGCTGCACGCATTCTTGTGAAATTTGAGGGGACCGAGAAGGAATCTCAGGAAGTTTGTTTACACTGGGGGCCTGGAGACCTTCGGGAAAATAGCCAGAACCAAAACGGACCAGTCAGCAGACGCAGACACACACAAAGTGACAGGGACACAGAAGCAGAAGCTGAACTGGGCAGAGCGGGCAGCG... | AAATGACTTGTCCGAGTTATATCAGGGTGGACCCCGGGCAAGACTCAGGTGCCTCTGCTGTCAGCTCACCTTTCAAGTTTCTGGTCCCCACTCGCACCCACTGAGACCAGAGACCGATTTACCTGAGGCAGAAGGTGCTGCACGCATTCTTGTGAAATTTGAGGGGACCGAGAAGGAATCTCAGGAAGTTTGTTTACACTGGGGGCCTGGAGACCTTCGGGAAAATAGCCAGAACCAAAACGGACCAGTCAGCAGACGCAGACACACACAAAGTGACAGGGACACAGAAGCAGAAGCTGAACTGGGCAGAGCGGGCAGCG... |
Task1_train_25194 | This variant affects the gene NOG (noggin) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Tarsal-carpal coalition syndrome | AAATGACTTGTCCGAGTTATATCAGGGTGGACCCCGGGCAAGACTCAGGTGCCTCTGCTGTCAGCTCACCTTTCAAGTTTCTGGTCCCCACTCGCACCCACTGAGACCAGAGACCGATTTACCTGAGGCAGAAGGTGCTGCACGCATTCTTGTGAAATTTGAGGGGACCGAGAAGGAATCTCAGGAAGTTTGTTTACACTGGGGGCCTGGAGACCTTCGGGAAAATAGCCAGAACCAAAACGGACCAGTCAGCAGACGCAGACACACACAAAGTGACAGGGACACAGAAGCAGAAGCTGAACTGGGCAGAGCGGGCAGCG... | AAATGACTTGTCCGAGTTATATCAGGGTGGACCCCGGGCAAGACTCAGGTGCCTCTGCTGTCAGCTCACCTTTCAAGTTTCTGGTCCCCACTCGCACCCACTGAGACCAGAGACCGATTTACCTGAGGCAGAAGGTGCTGCACGCATTCTTGTGAAATTTGAGGGGACCGAGAAGGAATCTCAGGAAGTTTGTTTACACTGGGGGCCTGGAGACCTTCGGGAAAATAGCCAGAACCAAAACGGACCAGTCAGCAGACGCAGACACACACAAAGTGACAGGGACACAGAAGCAGAAGCTGAACTGGGCAGAGCGGGCAGCG... |
Task1_train_25195 | A mutation in NOG (noggin), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Brachydactyly type B2 | CCCCCAGGGAGCCGAGCGGCGGCCGCGCGGAGCCGGGCGGGCTAGGGGAGCCGCAGGCGAGCCAGTCGCGCCCCTGAGGCTAGGCCACTCAGGGTGCAGGACCCGGCCAAGGAGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCG... | CCCCCAGGGAGCCGAGCGGCGGCCGCGCGGAGCCGGGCGGGCTAGGGGAGCCGCAGGCGAGCCAGTCGCGCCCCTGAGGCTAGGCCACTCAGGGTGCAGGACCCGGCCAAGGAGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCG... |
Task1_train_25196 | A sequence alteration has been identified in NOG (noggin) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; not provided | GCCGAGCGGCGGCCGCGCGGAGCCGGGCGGGCTAGGGGAGCCGCAGGCGAGCCAGTCGCGCCCCTGAGGCTAGGCCACTCAGGGTGCAGGACCCGGCCAAGGAGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGA... | GCCGAGCGGCGGCCGCGCGGAGCCGGGCGGGCTAGGGGAGCCGCAGGCGAGCCAGTCGCGCCCCTGAGGCTAGGCCACTCAGGGTGCAGGACCCGGCCAAGGAGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGA... |
Task1_train_25197 | The gene NOG (noggin) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Proximal symphalangism 1A | GCAGGCGAGCCAGTCGCGCCCCTGAGGCTAGGCCACTCAGGGTGCAGGACCCGGCCAAGGAGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTT... | GCAGGCGAGCCAGTCGCGCCCCTGAGGCTAGGCCACTCAGGGTGCAGGACCCGGCCAAGGAGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTT... |
Task1_train_25198 | Assess the clinical impact of this variant on gene NOG (noggin), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Proximal symphalangism 1A | CGCGCCCCTGAGGCTAGGCCACTCAGGGTGCAGGACCCGGCCAAGGAGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTG... | CGCGCCCCTGAGGCTAGGCCACTCAGGGTGCAGGACCCGGCCAAGGAGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTG... |
Task1_train_25199 | Consider this mutation in NOG (noggin) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Tarsal-carpal coalition syndrome | AGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTC... | AGGAGGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTC... |
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