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_25000 | 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 | GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTT... | GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTT... |
Task1_train_25001 | 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 | GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTT... | GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTT... |
Task1_train_25002 | 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 | AGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGG... | AGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGG... |
Task1_train_25003 | 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 | CTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCA... | CTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCA... |
Task1_train_25004 | 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 | CCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACT... | CCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACT... |
Task1_train_25005 | 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, perinatal lethal | TCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACA... | TCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACA... |
Task1_train_25006 | 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 | CACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAG... | CACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAG... |
Task1_train_25007 | 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 | TCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAG... | TCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAG... |
Task1_train_25008 | 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 | GCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCC... | GCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCC... |
Task1_train_25009 | 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 | CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCT... | CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCT... |
Task1_train_25010 | 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 | CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCT... | CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCT... |
Task1_train_25011 | 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; Osteoporosis | CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCT... | CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCT... |
Task1_train_25012 | 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; Osteogenesis imperfecta with normal sclerae, dominant form | CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCT... | CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCT... |
Task1_train_25013 | 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; Osteogenesis imperfecta type III | CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCT... | CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCT... |
Task1_train_25014 | 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 | CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCT... | CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCT... |
Task1_train_25015 | 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 | CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCT... | CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCT... |
Task1_train_25016 | 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; Infantile cortical hyperostosis | CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCT... | CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCT... |
Task1_train_25017 | 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; Ehlers-Danlos syndrome, arthrochalasia type | CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCT... | CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCT... |
Task1_train_25018 | 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; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCT... | CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCT... |
Task1_train_25019 | 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; not provided | GGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAG... | GGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAG... |
Task1_train_25020 | 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 | CATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGC... | CATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGC... |
Task1_train_25021 | 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; not provided | ATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCA... | ATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCA... |
Task1_train_25022 | 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 | GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGT... | GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGT... |
Task1_train_25023 | 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; Osteogenesis imperfecta type III | GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGT... | GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGT... |
Task1_train_25024 | 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, perinatal lethal | GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGT... | GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGT... |
Task1_train_25025 | 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 | GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGT... | GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGT... |
Task1_train_25026 | 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; not specified | GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGT... | GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGT... |
Task1_train_25027 | 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 III | TGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTG... | TGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTG... |
Task1_train_25028 | Consider a variant on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain). Determine its clinical classification and disease relevance. | Pathogenic; not provided | GGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGG... | GGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGG... |
Task1_train_25029 | 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, perinatal lethal | GAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGC... | GAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGC... |
Task1_train_25030 | 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 type I | GAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGC... | GAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGC... |
Task1_train_25031 | 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 | AGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCA... | AGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCA... |
Task1_train_25032 | 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 | CAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAA... | CAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAA... |
Task1_train_25033 | 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 type I | TTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAG... | TTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAG... |
Task1_train_25034 | 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; Osteoporosis | TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGA... | TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGA... |
Task1_train_25035 | 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 | TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGA... | TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGA... |
Task1_train_25036 | 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; Infantile cortical hyperostosis | TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGA... | TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGA... |
Task1_train_25037 | 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 with normal sclerae, dominant form | TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGA... | TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGA... |
Task1_train_25038 | 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; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGA... | TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGA... |
Task1_train_25039 | 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; Ehlers-Danlos syndrome, arthrochalasia type | TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGA... | TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGA... |
Task1_train_25040 | 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, perinatal lethal | TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGA... | TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGA... |
Task1_train_25041 | 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 III | TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGA... | TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGA... |
Task1_train_25042 | 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, perinatal lethal | TGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAG... | TGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAG... |
Task1_train_25043 | 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; not provided | AGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAA... | AGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAA... |
Task1_train_25044 | 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; Ehlers-Danlos syndrome | GCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGC... | GCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGC... |
Task1_train_25045 | 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 | GCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGC... | GCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGC... |
Task1_train_25046 | 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 | GCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGC... | GCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGC... |
Task1_train_25047 | 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; not provided | GGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGC... | GGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGC... |
Task1_train_25048 | 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; not provided | CTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCT... | CTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCT... |
Task1_train_25049 | 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 | CCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCT... | CCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCT... |
Task1_train_25050 | 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 type I | CTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAAT... | CTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAAT... |
Task1_train_25051 | 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; Osteogenesis imperfecta type III | CTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAAT... | CTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAAT... |
Task1_train_25052 | Here is a variant affecting COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Osteogenesis imperfecta type I | CTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAAT... | CTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAAT... |
Task1_train_25053 | 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 | TAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCC... | TAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCC... |
Task1_train_25054 | 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; Osteogenesis imperfecta type I | GAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAG... | GAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAG... |
Task1_train_25055 | 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 | TCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGC... | TCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGC... |
Task1_train_25056 | 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 | GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGT... | GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGT... |
Task1_train_25057 | 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; Ehlers-Danlos syndrome, arthrochalasia type | GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGT... | GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGT... |
Task1_train_25058 | 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 | GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGT... | GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGT... |
Task1_train_25059 | 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; Osteoporosis | GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGT... | GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGT... |
Task1_train_25060 | 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 with normal sclerae, dominant form | GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGT... | GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGT... |
Task1_train_25061 | 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; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGT... | GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGT... |
Task1_train_25062 | 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, perinatal lethal | GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGT... | GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGT... |
Task1_train_25063 | 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 III | GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGT... | GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGT... |
Task1_train_25064 | 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; Infantile cortical hyperostosis | GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGT... | GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGT... |
Task1_train_25065 | 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 | GACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGG... | GACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGG... |
Task1_train_25066 | 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; Osteogenesis imperfecta, perinatal lethal | TGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGC... | TGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGC... |
Task1_train_25067 | 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; not provided | GGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCC... | GGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCC... |
Task1_train_25068 | 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 | CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCT... | CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCT... |
Task1_train_25069 | 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; Osteoporosis | CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCT... | CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCT... |
Task1_train_25070 | 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 | CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCT... | CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCT... |
Task1_train_25071 | 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 with normal sclerae, dominant form | CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCT... | CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCT... |
Task1_train_25072 | 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 | CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCT... | CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCT... |
Task1_train_25073 | 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; Infantile cortical hyperostosis | CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCT... | CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCT... |
Task1_train_25074 | Consider a variant on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain). Determine its clinical classification and disease relevance. | Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type | CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCT... | CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCT... |
Task1_train_25075 | 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 III | CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCT... | CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCT... |
Task1_train_25076 | 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; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCT... | CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCT... |
Task1_train_25077 | 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 | TTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTC... | TTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTC... |
Task1_train_25078 | 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; Osteogenesis imperfecta type I | CCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACC... | CCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACC... |
Task1_train_25079 | 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 with normal sclerae, dominant form | CCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACC... | CCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACC... |
Task1_train_25080 | 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 type I | GCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGC... | GCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGC... |
Task1_train_25081 | 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 | GTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGAC... | GTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGAC... |
Task1_train_25082 | 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; Infantile cortical hyperostosis | GTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGAC... | GTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGAC... |
Task1_train_25083 | 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 | CACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCT... | CACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCT... |
Task1_train_25084 | 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 | GGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACG... | GGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACG... |
Task1_train_25085 | 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 | GCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAG... | GCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAG... |
Task1_train_25086 | 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; Osteogenesis imperfecta with normal sclerae, dominant form | CAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGC... | CAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGC... |
Task1_train_25087 | 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 | CAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGC... | CAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGC... |
Task1_train_25088 | 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 | CTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAG... | CTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAG... |
Task1_train_25089 | 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 | CCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGAC... | CCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGAC... |
Task1_train_25090 | 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; not provided | TCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAA... | TCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAA... |
Task1_train_25091 | 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; Osteogenesis imperfecta | CCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAG... | CCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAG... |
Task1_train_25092 | 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; not provided | CAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCT... | CAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCT... |
Task1_train_25093 | 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 type I | ACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCC... | ACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCC... |
Task1_train_25094 | 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 | ACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCC... | ACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCC... |
Task1_train_25095 | 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 | GGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAAT... | GGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAAT... |
Task1_train_25096 | 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 | GGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAAT... | GGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAAT... |
Task1_train_25097 | 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 I | CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGG... | CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGG... |
Task1_train_25098 | 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; Osteoporosis | CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGG... | CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGG... |
Task1_train_25099 | 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 III | CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGG... | CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGG... |
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