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 |
|---|---|---|---|---|
Task1_train_11400 | Assess the clinical impact of this variant on gene COL1A2 (collagen type I alpha 2 chain), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form | ATTCTGCACTTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGG... | ATTCTGCACTTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGG... |
Task1_train_11401 | This mutation is located in gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Osteoporosis | ATTCTGCACTTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGG... | ATTCTGCACTTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGG... |
Task1_train_11402 | The gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Osteogenesis imperfecta, perinatal lethal | ATTCTGCACTTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGG... | ATTCTGCACTTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGG... |
Task1_train_11403 | Given a variant located on Chromosome 7 and affecting COL1A2 (collagen type I alpha 2 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Osteogenesis imperfecta type III | ATTCTGCACTTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGG... | ATTCTGCACTTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGG... |
Task1_train_11404 | This variant affects the gene COL1A2 (collagen type I alpha 2 chain) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | ATTCTGCACTTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGG... | ATTCTGCACTTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGG... |
Task1_train_11405 | Gene COL1A2 (collagen type I alpha 2 chain), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Ehlers-Danlos syndrome, cardiac valvular type | ATTCTGCACTTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGG... | ATTCTGCACTTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGG... |
Task1_train_11406 | Here is a variant affecting COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type, 2 | ATTCTGCACTTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGG... | ATTCTGCACTTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGG... |
Task1_train_11407 | A variant has been detected on Chromosome 7 in COL1A2 (collagen type I alpha 2 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Osteogenesis imperfecta type I | ATTCTGCACTTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGG... | ATTCTGCACTTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGG... |
Task1_train_11408 | Given a variant located on Chromosome 7 and affecting COL1A2 (collagen type I alpha 2 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | ATTCTGCACTTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGG... | ATTCTGCACTTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGG... |
Task1_train_11409 | This genomic variant is located on Chromosome 7, within the COL1A2 (collagen type I alpha 2 chain) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGGCTTAATGGG... | TTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGGCTTAATGGG... |
Task1_train_11410 | Given this variant in gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Osteogenesis imperfecta type I | TTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGGCTTAATGGG... | TTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGGCTTAATGGG... |
Task1_train_11411 | The following genetic variant occurs in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGGCTTAATGGG... | TTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGGCTTAATGGG... |
Task1_train_11412 | Consider this mutation in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; Osteogenesis imperfecta type I | TTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGGCTTAATGGG... | TTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGGCTTAATGGG... |
Task1_train_11413 | This mutation occurs in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGGCTTAATGGG... | TTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGGCTTAATGGG... |
Task1_train_11414 | A sequence alteration has been identified in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Osteogenesis imperfecta type I | TTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGGCTTAATGGG... | TTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGGCTTAATGGG... |
Task1_train_11415 | Here is a mutation in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Osteogenesis imperfecta type I | TCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGGCTTAATGGGA... | TCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGGCTTAATGGGA... |
Task1_train_11416 | The gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGGCTTAATGGGA... | TCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGGCTTAATGGGA... |
Task1_train_11417 | Here is a genetic alteration in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | CATATACTCACTTTCAAATCCCTGGAGTTTGCCAAAGGGAAGAAAGAGTTAAAGAGTCAGATTTCTTGAAAGTAAAGTGGGGTGCAATTTTTTCAGTCTGTTCATAGCTACCAAAAAACAGGCTCACTACAGAGAAAATTATATAGAACATGTATTACTTATTGAGTATTTACAACCGTCTGAAAATCATAAAATTATTAAGGATGGAAAAGATGTGAGAGAACACCTAGTCCTCCATCCTTCTCTCTCAATGGCAAGAAAGTTAAGTGACCTATCTAGGGCAATAGACTGAGTTTGCTGGGACCTGGAACACTGGACTT... | CATATACTCACTTTCAAATCCCTGGAGTTTGCCAAAGGGAAGAAAGAGTTAAAGAGTCAGATTTCTTGAAAGTAAAGTGGGGTGCAATTTTTTCAGTCTGTTCATAGCTACCAAAAAACAGGCTCACTACAGAGAAAATTATATAGAACATGTATTACTTATTGAGTATTTACAACCGTCTGAAAATCATAAAATTATTAAGGATGGAAAAGATGTGAGAGAACACCTAGTCCTCCATCCTTCTCTCTCAATGGCAAGAAAGTTAAGTGACCTATCTAGGGCAATAGACTGAGTTTGCTGGGACCTGGAACACTGGACTT... |
Task1_train_11418 | The variant affects gene COL1A2 (collagen type I alpha 2 chain), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Osteogenesis imperfecta type I | CATATACTCACTTTCAAATCCCTGGAGTTTGCCAAAGGGAAGAAAGAGTTAAAGAGTCAGATTTCTTGAAAGTAAAGTGGGGTGCAATTTTTTCAGTCTGTTCATAGCTACCAAAAAACAGGCTCACTACAGAGAAAATTATATAGAACATGTATTACTTATTGAGTATTTACAACCGTCTGAAAATCATAAAATTATTAAGGATGGAAAAGATGTGAGAGAACACCTAGTCCTCCATCCTTCTCTCTCAATGGCAAGAAAGTTAAGTGACCTATCTAGGGCAATAGACTGAGTTTGCTGGGACCTGGAACACTGGACTT... | CATATACTCACTTTCAAATCCCTGGAGTTTGCCAAAGGGAAGAAAGAGTTAAAGAGTCAGATTTCTTGAAAGTAAAGTGGGGTGCAATTTTTTCAGTCTGTTCATAGCTACCAAAAAACAGGCTCACTACAGAGAAAATTATATAGAACATGTATTACTTATTGAGTATTTACAACCGTCTGAAAATCATAAAATTATTAAGGATGGAAAAGATGTGAGAGAACACCTAGTCCTCCATCCTTCTCTCTCAATGGCAAGAAAGTTAAGTGACCTATCTAGGGCAATAGACTGAGTTTGCTGGGACCTGGAACACTGGACTT... |
Task1_train_11419 | An alteration has been detected in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; COL1A2-related disorder | TTTGCCAAAGGGAAGAAAGAGTTAAAGAGTCAGATTTCTTGAAAGTAAAGTGGGGTGCAATTTTTTCAGTCTGTTCATAGCTACCAAAAAACAGGCTCACTACAGAGAAAATTATATAGAACATGTATTACTTATTGAGTATTTACAACCGTCTGAAAATCATAAAATTATTAAGGATGGAAAAGATGTGAGAGAACACCTAGTCCTCCATCCTTCTCTCTCAATGGCAAGAAAGTTAAGTGACCTATCTAGGGCAATAGACTGAGTTTGCTGGGACCTGGAACACTGGACTTCTTTCTACTGCAGCAGACAAGACTTAC... | TTTGCCAAAGGGAAGAAAGAGTTAAAGAGTCAGATTTCTTGAAAGTAAAGTGGGGTGCAATTTTTTCAGTCTGTTCATAGCTACCAAAAAACAGGCTCACTACAGAGAAAATTATATAGAACATGTATTACTTATTGAGTATTTACAACCGTCTGAAAATCATAAAATTATTAAGGATGGAAAAGATGTGAGAGAACACCTAGTCCTCCATCCTTCTCTCTCAATGGCAAGAAAGTTAAGTGACCTATCTAGGGCAATAGACTGAGTTTGCTGGGACCTGGAACACTGGACTTCTTTCTACTGCAGCAGACAAGACTTAC... |
Task1_train_11420 | This gene mutation involves COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it associated with any clinical condition, or is it benign? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TTTGCCAAAGGGAAGAAAGAGTTAAAGAGTCAGATTTCTTGAAAGTAAAGTGGGGTGCAATTTTTTCAGTCTGTTCATAGCTACCAAAAAACAGGCTCACTACAGAGAAAATTATATAGAACATGTATTACTTATTGAGTATTTACAACCGTCTGAAAATCATAAAATTATTAAGGATGGAAAAGATGTGAGAGAACACCTAGTCCTCCATCCTTCTCTCTCAATGGCAAGAAAGTTAAGTGACCTATCTAGGGCAATAGACTGAGTTTGCTGGGACCTGGAACACTGGACTTCTTTCTACTGCAGCAGACAAGACTTAC... | TTTGCCAAAGGGAAGAAAGAGTTAAAGAGTCAGATTTCTTGAAAGTAAAGTGGGGTGCAATTTTTTCAGTCTGTTCATAGCTACCAAAAAACAGGCTCACTACAGAGAAAATTATATAGAACATGTATTACTTATTGAGTATTTACAACCGTCTGAAAATCATAAAATTATTAAGGATGGAAAAGATGTGAGAGAACACCTAGTCCTCCATCCTTCTCTCTCAATGGCAAGAAAGTTAAGTGACCTATCTAGGGCAATAGACTGAGTTTGCTGGGACCTGGAACACTGGACTTCTTTCTACTGCAGCAGACAAGACTTAC... |
Task1_train_11421 | The variant affects gene COL1A2 (collagen type I alpha 2 chain), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Osteogenesis imperfecta type I | TTTGCCAAAGGGAAGAAAGAGTTAAAGAGTCAGATTTCTTGAAAGTAAAGTGGGGTGCAATTTTTTCAGTCTGTTCATAGCTACCAAAAAACAGGCTCACTACAGAGAAAATTATATAGAACATGTATTACTTATTGAGTATTTACAACCGTCTGAAAATCATAAAATTATTAAGGATGGAAAAGATGTGAGAGAACACCTAGTCCTCCATCCTTCTCTCTCAATGGCAAGAAAGTTAAGTGACCTATCTAGGGCAATAGACTGAGTTTGCTGGGACCTGGAACACTGGACTTCTTTCTACTGCAGCAGACAAGACTTAC... | TTTGCCAAAGGGAAGAAAGAGTTAAAGAGTCAGATTTCTTGAAAGTAAAGTGGGGTGCAATTTTTTCAGTCTGTTCATAGCTACCAAAAAACAGGCTCACTACAGAGAAAATTATATAGAACATGTATTACTTATTGAGTATTTACAACCGTCTGAAAATCATAAAATTATTAAGGATGGAAAAGATGTGAGAGAACACCTAGTCCTCCATCCTTCTCTCTCAATGGCAAGAAAGTTAAGTGACCTATCTAGGGCAATAGACTGAGTTTGCTGGGACCTGGAACACTGGACTTCTTTCTACTGCAGCAGACAAGACTTAC... |
Task1_train_11422 | Given a variant located on Chromosome 7 and affecting COL1A2 (collagen type I alpha 2 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Osteogenesis imperfecta type I | TGTGCACACTCAAAAAAATTTTAATTAGGTAATTAAAGTCTCAGAAGTGTGTTATCTCTTGGCTAGGCTCTTCTCTGACAGCGTTTTCAACTATAAAATGTTCTCTTTCCTATTAAGGAGATAATGTGATATTAAAGTGAATACCAACGTAATTACAAATTAATGAGTAACGAATACTAGCGGGACCAGAAATGAACATGAATATGGAGAATCTATTCTAACTTTCCAGCTGCCACACAAATGGATAAGGTCAAACTCATTCTCCCAAGAGCCCGATATAACAGCTCAGACTACTAATCACTGTATCATAAAATGTTAGA... | TGTGCACACTCAAAAAAATTTTAATTAGGTAATTAAAGTCTCAGAAGTGTGTTATCTCTTGGCTAGGCTCTTCTCTGACAGCGTTTTCAACTATAAAATGTTCTCTTTCCTATTAAGGAGATAATGTGATATTAAAGTGAATACCAACGTAATTACAAATTAATGAGTAACGAATACTAGCGGGACCAGAAATGAACATGAATATGGAGAATCTATTCTAACTTTCCAGCTGCCACACAAATGGATAAGGTCAAACTCATTCTCCCAAGAGCCCGATATAACAGCTCAGACTACTAATCACTGTATCATAAAATGTTAGA... |
Task1_train_11423 | A variant found in Chromosome 7 affects COL1A2 (collagen type I alpha 2 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TGTGCACACTCAAAAAAATTTTAATTAGGTAATTAAAGTCTCAGAAGTGTGTTATCTCTTGGCTAGGCTCTTCTCTGACAGCGTTTTCAACTATAAAATGTTCTCTTTCCTATTAAGGAGATAATGTGATATTAAAGTGAATACCAACGTAATTACAAATTAATGAGTAACGAATACTAGCGGGACCAGAAATGAACATGAATATGGAGAATCTATTCTAACTTTCCAGCTGCCACACAAATGGATAAGGTCAAACTCATTCTCCCAAGAGCCCGATATAACAGCTCAGACTACTAATCACTGTATCATAAAATGTTAGA... | TGTGCACACTCAAAAAAATTTTAATTAGGTAATTAAAGTCTCAGAAGTGTGTTATCTCTTGGCTAGGCTCTTCTCTGACAGCGTTTTCAACTATAAAATGTTCTCTTTCCTATTAAGGAGATAATGTGATATTAAAGTGAATACCAACGTAATTACAAATTAATGAGTAACGAATACTAGCGGGACCAGAAATGAACATGAATATGGAGAATCTATTCTAACTTTCCAGCTGCCACACAAATGGATAAGGTCAAACTCATTCTCCCAAGAGCCCGATATAACAGCTCAGACTACTAATCACTGTATCATAAAATGTTAGA... |
Task1_train_11424 | A variant has been detected on Chromosome 7 in COL1A2 (collagen type I alpha 2 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Osteogenesis imperfecta type I | TCAAAAAAATTTTAATTAGGTAATTAAAGTCTCAGAAGTGTGTTATCTCTTGGCTAGGCTCTTCTCTGACAGCGTTTTCAACTATAAAATGTTCTCTTTCCTATTAAGGAGATAATGTGATATTAAAGTGAATACCAACGTAATTACAAATTAATGAGTAACGAATACTAGCGGGACCAGAAATGAACATGAATATGGAGAATCTATTCTAACTTTCCAGCTGCCACACAAATGGATAAGGTCAAACTCATTCTCCCAAGAGCCCGATATAACAGCTCAGACTACTAATCACTGTATCATAAAATGTTAGAGCTGCAAGG... | TCAAAAAAATTTTAATTAGGTAATTAAAGTCTCAGAAGTGTGTTATCTCTTGGCTAGGCTCTTCTCTGACAGCGTTTTCAACTATAAAATGTTCTCTTTCCTATTAAGGAGATAATGTGATATTAAAGTGAATACCAACGTAATTACAAATTAATGAGTAACGAATACTAGCGGGACCAGAAATGAACATGAATATGGAGAATCTATTCTAACTTTCCAGCTGCCACACAAATGGATAAGGTCAAACTCATTCTCCCAAGAGCCCGATATAACAGCTCAGACTACTAATCACTGTATCATAAAATGTTAGAGCTGCAAGG... |
Task1_train_11425 | Chromosome 7 houses a mutation in gene COL1A2 (collagen type I alpha 2 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TCAAAAAAATTTTAATTAGGTAATTAAAGTCTCAGAAGTGTGTTATCTCTTGGCTAGGCTCTTCTCTGACAGCGTTTTCAACTATAAAATGTTCTCTTTCCTATTAAGGAGATAATGTGATATTAAAGTGAATACCAACGTAATTACAAATTAATGAGTAACGAATACTAGCGGGACCAGAAATGAACATGAATATGGAGAATCTATTCTAACTTTCCAGCTGCCACACAAATGGATAAGGTCAAACTCATTCTCCCAAGAGCCCGATATAACAGCTCAGACTACTAATCACTGTATCATAAAATGTTAGAGCTGCAAGG... | TCAAAAAAATTTTAATTAGGTAATTAAAGTCTCAGAAGTGTGTTATCTCTTGGCTAGGCTCTTCTCTGACAGCGTTTTCAACTATAAAATGTTCTCTTTCCTATTAAGGAGATAATGTGATATTAAAGTGAATACCAACGTAATTACAAATTAATGAGTAACGAATACTAGCGGGACCAGAAATGAACATGAATATGGAGAATCTATTCTAACTTTCCAGCTGCCACACAAATGGATAAGGTCAAACTCATTCTCCCAAGAGCCCGATATAACAGCTCAGACTACTAATCACTGTATCATAAAATGTTAGAGCTGCAAGG... |
Task1_train_11426 | This mutation occurs in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Osteogenesis imperfecta type I | TCAAAAAAATTTTAATTAGGTAATTAAAGTCTCAGAAGTGTGTTATCTCTTGGCTAGGCTCTTCTCTGACAGCGTTTTCAACTATAAAATGTTCTCTTTCCTATTAAGGAGATAATGTGATATTAAAGTGAATACCAACGTAATTACAAATTAATGAGTAACGAATACTAGCGGGACCAGAAATGAACATGAATATGGAGAATCTATTCTAACTTTCCAGCTGCCACACAAATGGATAAGGTCAAACTCATTCTCCCAAGAGCCCGATATAACAGCTCAGACTACTAATCACTGTATCATAAAATGTTAGAGCTGCAAGG... | TCAAAAAAATTTTAATTAGGTAATTAAAGTCTCAGAAGTGTGTTATCTCTTGGCTAGGCTCTTCTCTGACAGCGTTTTCAACTATAAAATGTTCTCTTTCCTATTAAGGAGATAATGTGATATTAAAGTGAATACCAACGTAATTACAAATTAATGAGTAACGAATACTAGCGGGACCAGAAATGAACATGAATATGGAGAATCTATTCTAACTTTCCAGCTGCCACACAAATGGATAAGGTCAAACTCATTCTCCCAAGAGCCCGATATAACAGCTCAGACTACTAATCACTGTATCATAAAATGTTAGAGCTGCAAGG... |
Task1_train_11427 | This mutation is located in gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TCAAAAAAATTTTAATTAGGTAATTAAAGTCTCAGAAGTGTGTTATCTCTTGGCTAGGCTCTTCTCTGACAGCGTTTTCAACTATAAAATGTTCTCTTTCCTATTAAGGAGATAATGTGATATTAAAGTGAATACCAACGTAATTACAAATTAATGAGTAACGAATACTAGCGGGACCAGAAATGAACATGAATATGGAGAATCTATTCTAACTTTCCAGCTGCCACACAAATGGATAAGGTCAAACTCATTCTCCCAAGAGCCCGATATAACAGCTCAGACTACTAATCACTGTATCATAAAATGTTAGAGCTGCAAGG... | TCAAAAAAATTTTAATTAGGTAATTAAAGTCTCAGAAGTGTGTTATCTCTTGGCTAGGCTCTTCTCTGACAGCGTTTTCAACTATAAAATGTTCTCTTTCCTATTAAGGAGATAATGTGATATTAAAGTGAATACCAACGTAATTACAAATTAATGAGTAACGAATACTAGCGGGACCAGAAATGAACATGAATATGGAGAATCTATTCTAACTTTCCAGCTGCCACACAAATGGATAAGGTCAAACTCATTCTCCCAAGAGCCCGATATAACAGCTCAGACTACTAATCACTGTATCATAAAATGTTAGAGCTGCAAGG... |
Task1_train_11428 | This sequence change occurs on Chromosome 7, altering COL1A2 (collagen type I alpha 2 chain). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | ATTTTAATTAGGTAATTAAAGTCTCAGAAGTGTGTTATCTCTTGGCTAGGCTCTTCTCTGACAGCGTTTTCAACTATAAAATGTTCTCTTTCCTATTAAGGAGATAATGTGATATTAAAGTGAATACCAACGTAATTACAAATTAATGAGTAACGAATACTAGCGGGACCAGAAATGAACATGAATATGGAGAATCTATTCTAACTTTCCAGCTGCCACACAAATGGATAAGGTCAAACTCATTCTCCCAAGAGCCCGATATAACAGCTCAGACTACTAATCACTGTATCATAAAATGTTAGAGCTGCAAGGAGCTTTGG... | ATTTTAATTAGGTAATTAAAGTCTCAGAAGTGTGTTATCTCTTGGCTAGGCTCTTCTCTGACAGCGTTTTCAACTATAAAATGTTCTCTTTCCTATTAAGGAGATAATGTGATATTAAAGTGAATACCAACGTAATTACAAATTAATGAGTAACGAATACTAGCGGGACCAGAAATGAACATGAATATGGAGAATCTATTCTAACTTTCCAGCTGCCACACAAATGGATAAGGTCAAACTCATTCTCCCAAGAGCCCGATATAACAGCTCAGACTACTAATCACTGTATCATAAAATGTTAGAGCTGCAAGGAGCTTTGG... |
Task1_train_11429 | This variant lies on Chromosome 7 and affects the gene COL1A2 (collagen type I alpha 2 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Osteogenesis imperfecta type I | ATTTTAATTAGGTAATTAAAGTCTCAGAAGTGTGTTATCTCTTGGCTAGGCTCTTCTCTGACAGCGTTTTCAACTATAAAATGTTCTCTTTCCTATTAAGGAGATAATGTGATATTAAAGTGAATACCAACGTAATTACAAATTAATGAGTAACGAATACTAGCGGGACCAGAAATGAACATGAATATGGAGAATCTATTCTAACTTTCCAGCTGCCACACAAATGGATAAGGTCAAACTCATTCTCCCAAGAGCCCGATATAACAGCTCAGACTACTAATCACTGTATCATAAAATGTTAGAGCTGCAAGGAGCTTTGG... | ATTTTAATTAGGTAATTAAAGTCTCAGAAGTGTGTTATCTCTTGGCTAGGCTCTTCTCTGACAGCGTTTTCAACTATAAAATGTTCTCTTTCCTATTAAGGAGATAATGTGATATTAAAGTGAATACCAACGTAATTACAAATTAATGAGTAACGAATACTAGCGGGACCAGAAATGAACATGAATATGGAGAATCTATTCTAACTTTCCAGCTGCCACACAAATGGATAAGGTCAAACTCATTCTCCCAAGAGCCCGATATAACAGCTCAGACTACTAATCACTGTATCATAAAATGTTAGAGCTGCAAGGAGCTTTGG... |
Task1_train_11430 | A genetic alteration is present in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Osteogenesis imperfecta type I | ATTTCCCCTATATCTAAATCAGATTATCTTTAAAAAAAGTTCTTTTACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAG... | ATTTCCCCTATATCTAAATCAGATTATCTTTAAAAAAAGTTCTTTTACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAG... |
Task1_train_11431 | Consider a variant on Chromosome 7 in gene COL1A2 (collagen type I alpha 2 chain). Determine its clinical classification and disease relevance. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | ATTTCCCCTATATCTAAATCAGATTATCTTTAAAAAAAGTTCTTTTACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAG... | ATTTCCCCTATATCTAAATCAGATTATCTTTAAAAAAAGTTCTTTTACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAG... |
Task1_train_11432 | Here is a variant affecting COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Osteogenesis imperfecta type I | TTTCCCCTATATCTAAATCAGATTATCTTTAAAAAAAGTTCTTTTACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGA... | TTTCCCCTATATCTAAATCAGATTATCTTTAAAAAAAGTTCTTTTACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGA... |
Task1_train_11433 | This variant affects gene COL1A2 (collagen type I alpha 2 chain) located on Chromosome 7. Evaluate its biological effect and specify any disease association. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TTTCCCCTATATCTAAATCAGATTATCTTTAAAAAAAGTTCTTTTACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGA... | TTTCCCCTATATCTAAATCAGATTATCTTTAAAAAAAGTTCTTTTACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGA... |
Task1_train_11434 | This is a variant in COL1A2 (collagen type I alpha 2 chain), located on Chromosome 7. Is this mutation a likely cause of disease or not? | Pathogenic; COL1A2-related disorder | TTTCCCCTATATCTAAATCAGATTATCTTTAAAAAAAGTTCTTTTACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGA... | TTTCCCCTATATCTAAATCAGATTATCTTTAAAAAAAGTTCTTTTACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGA... |
Task1_train_11435 | The variant affects gene COL1A2 (collagen type I alpha 2 chain), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TTTCCCCTATATCTAAATCAGATTATCTTTAAAAAAAGTTCTTTTACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGA... | TTTCCCCTATATCTAAATCAGATTATCTTTAAAAAAAGTTCTTTTACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGA... |
Task1_train_11436 | Chromosome 7 houses a mutation in gene COL1A2 (collagen type I alpha 2 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Osteogenesis imperfecta type I | TTTCCCCTATATCTAAATCAGATTATCTTTAAAAAAAGTTCTTTTACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGA... | TTTCCCCTATATCTAAATCAGATTATCTTTAAAAAAAGTTCTTTTACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGA... |
Task1_train_11437 | Assess the clinical impact of this variant on gene COL1A2 (collagen type I alpha 2 chain), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Osteogenesis imperfecta type I | CAGATTATCTTTAAAAAAAGTTCTTTTACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACA... | CAGATTATCTTTAAAAAAAGTTCTTTTACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACA... |
Task1_train_11438 | Given this variant in gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | CAGATTATCTTTAAAAAAAGTTCTTTTACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACA... | CAGATTATCTTTAAAAAAAGTTCTTTTACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACA... |
Task1_train_11439 | Here is a variant affecting COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TTTAAAAAAAGTTCTTTTACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAA... | TTTAAAAAAAGTTCTTTTACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAA... |
Task1_train_11440 | Gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Osteogenesis imperfecta type I | TTTAAAAAAAGTTCTTTTACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAA... | TTTAAAAAAAGTTCTTTTACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAA... |
Task1_train_11441 | Given this context: Chromosome 7, gene COL1A2, COL1A2-AS1 (collagen type I alpha 2 chain| COL1A2 antisense RNA 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form | TTTAAAAAAAGTTCTTTTACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAA... | TTTAAAAAAAGTTCTTTTACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAA... |
Task1_train_11442 | Gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Osteogenesis imperfecta type I | AGTTCTTTTACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTC... | AGTTCTTTTACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTC... |
Task1_train_11443 | This genomic variant is located on Chromosome 7, within the COL1A2 (collagen type I alpha 2 chain) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | AGTTCTTTTACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTC... | AGTTCTTTTACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTC... |
Task1_train_11444 | Here is a variant affecting COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | TACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAAC... | TACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAAC... |
Task1_train_11445 | A variant has been detected on Chromosome 7 in COL1A2 (collagen type I alpha 2 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Osteogenesis imperfecta, perinatal lethal | TACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAAC... | TACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAAC... |
Task1_train_11446 | This alteration in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAAC... | TACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAAC... |
Task1_train_11447 | Given this variant in gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Osteogenesis imperfecta type I | TACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAAC... | TACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAAC... |
Task1_train_11448 | This sequence change occurs on Chromosome 7, altering COL1A2 (collagen type I alpha 2 chain). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type, 2 | TACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAAC... | TACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAAC... |
Task1_train_11449 | Consider this mutation in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; Osteoporosis | TACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAAC... | TACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAAC... |
Task1_train_11450 | This mutation is located in gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form | TACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAAC... | TACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAAC... |
Task1_train_11451 | This variant affects the gene COL1A2 (collagen type I alpha 2 chain) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type, 2 | TACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAAC... | TACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAAC... |
Task1_train_11452 | This variant lies on Chromosome 7 and affects the gene COL1A2 (collagen type I alpha 2 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Ehlers-Danlos syndrome, cardiac valvular type | TACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAAC... | TACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAAC... |
Task1_train_11453 | A genomic change on Chromosome 7 affects COL1A2 (collagen type I alpha 2 chain). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Osteogenesis imperfecta type III | TACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAAC... | TACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAAC... |
Task1_train_11454 | Here is a genetic alteration in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Osteogenesis imperfecta, perinatal lethal | TACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAAC... | TACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAAC... |
Task1_train_11455 | A change on Chromosome 7 affects gene COL1A2 (collagen type I alpha 2 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | TACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAAC... | TACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAAC... |
Task1_train_11456 | Chromosome 7 houses a mutation in gene COL1A2 (collagen type I alpha 2 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Osteogenesis imperfecta | TACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAAC... | TACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAAC... |
Task1_train_11457 | A sequence alteration has been identified in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Increased susceptibility to fractures | TACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAAC... | TACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAAC... |
Task1_train_11458 | A genetic alteration is present in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | ACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACC... | ACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACC... |
Task1_train_11459 | A mutation found in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Osteogenesis imperfecta type I | ACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACC... | ACATGTGCCATAGTATTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACC... |
Task1_train_11460 | Located on Chromosome 7, this mutation impacts COL1A2 (collagen type I alpha 2 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Osteogenesis imperfecta type I | AAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTAT... | AAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTAT... |
Task1_train_11461 | This variant impacts the gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is the change likely to result in a pathogenic outcome? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | AAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTAT... | AAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTAT... |
Task1_train_11462 | Consider a variant on Chromosome 7 in gene COL1A2 (collagen type I alpha 2 chain). Determine its clinical classification and disease relevance. | Pathogenic; Osteogenesis imperfecta type I | AAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTAT... | AAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTAT... |
Task1_train_11463 | Gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | AAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTAT... | AAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTAT... |
Task1_train_11464 | A variant on Chromosome 7 in gene COL1A2 (collagen type I alpha 2 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Osteogenesis imperfecta, perinatal lethal | TACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTATCTGAATAAAAACTCATGT... | TACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTATCTGAATAAAAACTCATGT... |
Task1_train_11465 | This alteration occurs within gene COL1A2 (collagen type I alpha 2 chain) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTATCTGAATAAAAACTCATGT... | TACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTATCTGAATAAAAACTCATGT... |
Task1_train_11466 | Located on Chromosome 7, this mutation impacts COL1A2 (collagen type I alpha 2 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Osteogenesis imperfecta type I | TACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTATCTGAATAAAAACTCATGT... | TACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTATCTGAATAAAAACTCATGT... |
Task1_train_11467 | A mutation found in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Osteogenesis imperfecta type I | TACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTATCTGAATAAAAACTCATGT... | TACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTATCTGAATAAAAACTCATGT... |
Task1_train_11468 | A variant affecting Chromosome 7, within the gene COL1A2 (collagen type I alpha 2 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTATCTGAATAAAAACTCATGT... | TACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTATCTGAATAAAAACTCATGT... |
Task1_train_11469 | Here is a genetic alteration in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Osteogenesis imperfecta type I | ACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTATCTGAATAAAAACTCATGTT... | ACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTATCTGAATAAAAACTCATGTT... |
Task1_train_11470 | A variant affecting Chromosome 7, within the gene COL1A2 (collagen type I alpha 2 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | ACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTATCTGAATAAAAACTCATGTT... | ACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTATCTGAATAAAAACTCATGTT... |
Task1_train_11471 | This alteration occurs within gene COL1A2 (collagen type I alpha 2 chain) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTATCTGAATAAAAACTCATGTTAGCACATTTTAAAATCTGTGTGTCTGGCATAATTGAAAAACAATCTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGT... | TTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTATCTGAATAAAAACTCATGTTAGCACATTTTAAAATCTGTGTGTCTGGCATAATTGAAAAACAATCTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGT... |
Task1_train_11472 | Chromosome 7 houses a mutation in gene COL1A2 (collagen type I alpha 2 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Osteogenesis imperfecta type I | TTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTATCTGAATAAAAACTCATGTTAGCACATTTTAAAATCTGTGTGTCTGGCATAATTGAAAAACAATCTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGT... | TTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTATCTGAATAAAAACTCATGTTAGCACATTTTAAAATCTGTGTGTCTGGCATAATTGAAAAACAATCTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGT... |
Task1_train_11473 | Gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Osteogenesis imperfecta type I | TTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTATCTGAATAAAAACTCATGTTAGCACATTTTAAAATCTGTGTGTCTGGCATAATTGAAAAACAATCTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCC... | TTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTATCTGAATAAAAACTCATGTTAGCACATTTTAAAATCTGTGTGTCTGGCATAATTGAAAAACAATCTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCC... |
Task1_train_11474 | With a mutation on Chromosome 7 in gene COL1A2 (collagen type I alpha 2 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTATCTGAATAAAAACTCATGTTAGCACATTTTAAAATCTGTGTGTCTGGCATAATTGAAAAACAATCTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCC... | TTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTATCTGAATAAAAACTCATGTTAGCACATTTTAAAATCTGTGTGTCTGGCATAATTGAAAAACAATCTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCC... |
Task1_train_11475 | A change on Chromosome 7 affects gene COL1A2 (collagen type I alpha 2 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Osteogenesis imperfecta type I | ATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTATCTGAATAAAAACTCATGTTAGCACATTTTAAAATCTGTGTGTCTGGCATAATTGAAAAACAATCTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAA... | ATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTATCTGAATAAAAACTCATGTTAGCACATTTTAAAATCTGTGTGTCTGGCATAATTGAAAAACAATCTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAA... |
Task1_train_11476 | An alteration has been detected in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | ATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTATCTGAATAAAAACTCATGTTAGCACATTTTAAAATCTGTGTGTCTGGCATAATTGAAAAACAATCTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAA... | ATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACTATCTGAATAAAAACTCATGTTAGCACATTTTAAAATCTGTGTGTCTGGCATAATTGAAAAACAATCTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAA... |
Task1_train_11477 | A variant was discovered on Chromosome 7, affecting COL1A2 (collagen type I alpha 2 chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Osteogenesis imperfecta type I | TGTGTCTGGCATAATTGAAAAACAATCTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATA... | TGTGTCTGGCATAATTGAAAAACAATCTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATA... |
Task1_train_11478 | This mutation is located in gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TGTGTCTGGCATAATTGAAAAACAATCTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATA... | TGTGTCTGGCATAATTGAAAAACAATCTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATA... |
Task1_train_11479 | The gene COL1A2 (collagen type I alpha 2 chain) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | AAAACAATCTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATT... | AAAACAATCTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATT... |
Task1_train_11480 | A variant affecting Chromosome 7, within the gene COL1A2 (collagen type I alpha 2 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Osteogenesis imperfecta type I | AAAACAATCTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATT... | AAAACAATCTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATT... |
Task1_train_11481 | The variant affects gene COL1A2 (collagen type I alpha 2 chain), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | CTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCA... | CTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCA... |
Task1_train_11482 | This mutation is located in gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Osteogenesis imperfecta type I | CTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCA... | CTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCA... |
Task1_train_11483 | This variant lies on Chromosome 7 and affects the gene COL1A2 (collagen type I alpha 2 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Postmenopausal osteoporosis | CTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCA... | CTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCA... |
Task1_train_11484 | This sequence variant lies in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type, 2 | CTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCA... | CTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCA... |
Task1_train_11485 | The following genetic variant occurs in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Osteogenesis imperfecta, perinatal lethal | CTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCA... | CTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCA... |
Task1_train_11486 | This sequence variant lies in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Osteogenesis imperfecta type III | CTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCA... | CTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCA... |
Task1_train_11487 | The gene COL1A2 (collagen type I alpha 2 chain), on Chromosome 7, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Ehlers-Danlos syndrome, cardiac valvular type | CTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCA... | CTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCA... |
Task1_train_11488 | A variant affecting Chromosome 7, within the gene COL1A2 (collagen type I alpha 2 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form | CTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCA... | CTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCA... |
Task1_train_11489 | The gene COL1A2 (collagen type I alpha 2 chain) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form | CTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCA... | CTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCA... |
Task1_train_11490 | This alteration occurs within gene COL1A2 (collagen type I alpha 2 chain) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Ehlers-Danlos syndrome, cardiac valvular type | CTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCA... | CTATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCA... |
Task1_train_11491 | This gene mutation involves COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | TATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCAC... | TATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCAC... |
Task1_train_11492 | Given this context: Chromosome 7, gene COL1A2 (collagen type I alpha 2 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | TATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCAC... | TATATGTGTAAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCAC... |
Task1_train_11493 | This alteration in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Osteogenesis imperfecta type III | AAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCACTACTGTTTA... | AAGAAATATTATGAAGTATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCACTACTGTTTA... |
Task1_train_11494 | This variant impacts the gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is the change likely to result in a pathogenic outcome? | Pathogenic; Osteogenesis imperfecta | ATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCACTACTGTTTAGTTGGAATTAGAAGGCA... | ATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCACTACTGTTTAGTTGGAATTAGAAGGCA... |
Task1_train_11495 | Given this variant in gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; COL1A2-related disorder | ATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCACTACTGTTTAGTTGGAATTAGAAGGCA... | ATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCACTACTGTTTAGTTGGAATTAGAAGGCA... |
Task1_train_11496 | A mutation in COL1A2 (collagen type I alpha 2 chain), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form | ATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCACTACTGTTTAGTTGGAATTAGAAGGCA... | ATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCACTACTGTTTAGTTGGAATTAGAAGGCA... |
Task1_train_11497 | With a mutation on Chromosome 7 in gene COL1A2 (collagen type I alpha 2 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Osteogenesis imperfecta type III | ATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCACTACTGTTTAGTTGGAATTAGAAGGCA... | ATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCACTACTGTTTAGTTGGAATTAGAAGGCA... |
Task1_train_11498 | Gene COL1A2 (collagen type I alpha 2 chain) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Ehlers-Danlos syndrome, classic type | ATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCACTACTGTTTAGTTGGAATTAGAAGGCA... | ATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCACTACTGTTTAGTTGGAATTAGAAGGCA... |
Task1_train_11499 | This variant affects the gene COL1A2 (collagen type I alpha 2 chain) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Ehlers-Danlos syndrome | ATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCACTACTGTTTAGTTGGAATTAGAAGGCA... | ATATGAATGGTTCAAAGTAAAAAAAATAGAGTAAAATTGCACTATCAGGAAAAATAATTGTTATATTTAATGAACAAAAACTCAATCCTTCTCCATGTAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGTAAGTATTGACTACTTCATTGTAAATTTAAATGTGTACACTCTTTATGAGATGGAACTTCTTTAATGTTTTTGCTAATCACTGTATCCTTCAGCATTGTATTCTTTGATGTTTTTCTAATAGCCTTCTGATACTTAATTGAAATCCACTACTGTTTAGTTGGAATTAGAAGGCA... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.