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_17400 | Here is a genetic alteration in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Type 2 collagenopathy | TATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAG... | TATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAG... |
Task1_train_17401 | Here’s a variant in COL2A1 (collagen type II alpha 1 chain) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not specified | TATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAG... | TATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAG... |
Task1_train_17402 | Consider a variant on Chromosome 12 in gene COL2A1 (collagen type II alpha 1 chain). Determine its clinical classification and disease relevance. | Pathogenic; not provided | TATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACAC... | TATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACAC... |
Task1_train_17403 | The gene COL2A1 (collagen type II alpha 1 chain) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Spondyloepiphyseal dysplasia congenita | CCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCC... | CCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCC... |
Task1_train_17404 | This alteration in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | AAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTC... | AAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTC... |
Task1_train_17405 | A genetic alteration is present in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | AAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTC... | AAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTC... |
Task1_train_17406 | This mutation occurs in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Spondyloepimetaphyseal dysplasia, Strudwick type | AGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCA... | AGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCA... |
Task1_train_17407 | Given this variant in gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Stickler syndrome type 1 | AGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCT... | AGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCT... |
Task1_train_17408 | A change on Chromosome 12 affects gene COL2A1 (collagen type II alpha 1 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Myopia | AGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCT... | AGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCT... |
Task1_train_17409 | This mutation occurs in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Achondrogenesis type II | TCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTC... | TCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTC... |
Task1_train_17410 | A mutation in COL2A1 (collagen type II alpha 1 chain), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Spondyloepiphyseal dysplasia congenita | TCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTC... | TCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTC... |
Task1_train_17411 | Given this context: Chromosome 12, gene COL2A1 (collagen type II alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | CTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCC... | CTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCC... |
Task1_train_17412 | This alteration occurs within gene COL2A1 (collagen type II alpha 1 chain) located on Chromosome 12. Is it associated with a disease or is it a benign variant? | Pathogenic; Stickler syndrome type 1 | TCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCT... | TCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCT... |
Task1_train_17413 | A variant has been detected on Chromosome 12 in COL2A1 (collagen type II alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | CATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACA... | CATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACA... |
Task1_train_17414 | This is a variant in COL2A1 (collagen type II alpha 1 chain), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | ACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTA... | ACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTA... |
Task1_train_17415 | A variant has been detected on Chromosome 12 in COL2A1 (collagen type II alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | GCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCA... | GCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCA... |
Task1_train_17416 | This sequence variant lies in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | CTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCAC... | CTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCAC... |
Task1_train_17417 | A variant has been detected on Chromosome 12 in COL2A1 (collagen type II alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | AAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCC... | AAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCC... |
Task1_train_17418 | This mutation occurs in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hypochondrogenesis | AGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGC... | AGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGC... |
Task1_train_17419 | A mutation on Chromosome 12 affecting COL2A1 (collagen type II alpha 1 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | AAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGA... | AAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGA... |
Task1_train_17420 | Gene COL2A1 (collagen type II alpha 1 chain), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Type 2 collagenopathy | TGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGG... | TGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGG... |
Task1_train_17421 | Here is a mutation in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Connective tissue disorder | GGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTC... | GGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTC... |
Task1_train_17422 | Given a variant located on Chromosome 12 and affecting COL2A1 (collagen type II alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | AGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGG... | AGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGG... |
Task1_train_17423 | A variant affecting Chromosome 12, within the gene COL2A1 (collagen type II alpha 1 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | CCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAG... | CCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAG... |
Task1_train_17424 | A mutation in COL2A1 (collagen type II alpha 1 chain), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | TCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCT... | TCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCT... |
Task1_train_17425 | This variant lies on Chromosome 12 and affects the gene COL2A1 (collagen type II alpha 1 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Namaqualand hip dysplasia | AGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGG... | AGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGG... |
Task1_train_17426 | Located on Chromosome 12, this mutation impacts COL2A1 (collagen type II alpha 1 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Avascular necrosis of femoral head, primary, 1 | GATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGA... | GATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGA... |
Task1_train_17427 | With a mutation on Chromosome 12 in gene COL2A1 (collagen type II alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | GATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCC... | GATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCC... |
Task1_train_17428 | Given a variant located on Chromosome 12 and affecting COL2A1 (collagen type II alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | ATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCC... | ATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCC... |
Task1_train_17429 | A variant was discovered on Chromosome 12, affecting COL2A1 (collagen type II alpha 1 chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Spondyloepiphyseal dysplasia congenita | TGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTA... | TGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTA... |
Task1_train_17430 | A change on Chromosome 12 affects gene COL2A1 (collagen type II alpha 1 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | TGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTA... | TGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTA... |
Task1_train_17431 | This mutation is located in gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | AGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAAC... | AGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAAC... |
Task1_train_17432 | Consider a variant on Chromosome 12 in gene COL2A1 (collagen type II alpha 1 chain). Determine its clinical classification and disease relevance. | Pathogenic; Spondyloepiphyseal dysplasia congenita | GCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGG... | GCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGG... |
Task1_train_17433 | This sequence variant lies in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | GCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGG... | GCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGG... |
Task1_train_17434 | This sequence variant lies in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | CAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGA... | CAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGA... |
Task1_train_17435 | This gene mutation involves COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; Stickler syndrome, type I, nonsyndromic ocular | CAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCC... | CAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCC... |
Task1_train_17436 | A variant found in Chromosome 12 affects COL2A1 (collagen type II alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Achondrogenesis type II | CTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAG... | CTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAG... |
Task1_train_17437 | A variant was discovered in gene COL2A1 (collagen type II alpha 1 chain), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | CTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGT... | CTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGT... |
Task1_train_17438 | Given this context: Chromosome 12, gene COL2A1 (collagen type II alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | TCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAA... | TCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAA... |
Task1_train_17439 | Here is a genetic alteration in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | TGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTT... | TGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTT... |
Task1_train_17440 | An alteration has been detected in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Avascular necrosis of femoral head, primary, 1 | GATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCA... | GATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCA... |
Task1_train_17441 | The following genetic variant occurs in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Connective tissue disorder | GATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCA... | GATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCA... |
Task1_train_17442 | A variant was discovered in gene COL2A1 (collagen type II alpha 1 chain), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | AGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAG... | AGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAG... |
Task1_train_17443 | A variant has been detected on Chromosome 12 in COL2A1 (collagen type II alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | CCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGC... | CCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGC... |
Task1_train_17444 | Assess the clinical impact of this variant on gene COL2A1 (collagen type II alpha 1 chain), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Spondyloepimetaphyseal dysplasia, Strudwick type | CAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCC... | CAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCC... |
Task1_train_17445 | This alteration in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Spondyloepiphyseal dysplasia congenita | CAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCC... | CAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCC... |
Task1_train_17446 | The variant affects gene COL2A1 (collagen type II alpha 1 chain), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | CATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAG... | CATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAG... |
Task1_train_17447 | Located on Chromosome 12, this mutation impacts COL2A1 (collagen type II alpha 1 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | CAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGT... | CAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGT... |
Task1_train_17448 | Chromosome 12 houses a mutation in gene COL2A1 (collagen type II alpha 1 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | CAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGA... | CAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGA... |
Task1_train_17449 | This variant affects gene COL2A1 (collagen type II alpha 1 chain) located on Chromosome 12. Evaluate its biological effect and specify any disease association. | Pathogenic; Achondrogenesis type II | TCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAG... | TCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAG... |
Task1_train_17450 | A mutation on Chromosome 12 affecting COL2A1 (collagen type II alpha 1 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Achondrogenesis type II | ACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGT... | ACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGT... |
Task1_train_17451 | Given this context: Chromosome 12, gene COL2A1 (collagen type II alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not specified | CCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCC... | CCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCC... |
Task1_train_17452 | This gene mutation involves COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; Inborn genetic diseases | TGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTC... | TGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTC... |
Task1_train_17453 | A variant found in Chromosome 12 affects COL2A1 (collagen type II alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... |
Task1_train_17454 | This sequence variant lies in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Legg-Calve-Perthes disease | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... |
Task1_train_17455 | Gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Kniest dysplasia | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... |
Task1_train_17456 | This variant affects the gene COL2A1 (collagen type II alpha 1 chain) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Namaqualand hip dysplasia | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... |
Task1_train_17457 | This variant lies on Chromosome 12 and affects the gene COL2A1 (collagen type II alpha 1 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Vitreoretinopathy with phalangeal epiphyseal dysplasia | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... |
Task1_train_17458 | This variant affects the gene COL2A1 (collagen type II alpha 1 chain) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Spondyloepiphyseal dysplasia, Stanescu type | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... |
Task1_train_17459 | This gene mutation involves COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; Achondrogenesis type II | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... |
Task1_train_17460 | Here’s a variant in COL2A1 (collagen type II alpha 1 chain) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Spondyloepiphyseal dysplasia congenita | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... |
Task1_train_17461 | This sequence change occurs on Chromosome 12, altering COL2A1 (collagen type II alpha 1 chain). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Multiple epiphyseal dysplasia, Beighton type | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... |
Task1_train_17462 | A variant on Chromosome 12 in gene COL2A1 (collagen type II alpha 1 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Spondyloepiphyseal dysplasia with metatarsal shortening | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... |
Task1_train_17463 | Here’s a variant in COL2A1 (collagen type II alpha 1 chain) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Stickler syndrome, type I, nonsyndromic ocular | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... |
Task1_train_17464 | This mutation is located in gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Spondyloperipheral dysplasia | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... |
Task1_train_17465 | This mutation is located in gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Avascular necrosis of femoral head, primary, 1 | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... |
Task1_train_17466 | Assess the clinical impact of this variant on gene COL2A1 (collagen type II alpha 1 chain), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Stickler syndrome type 1 | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... |
Task1_train_17467 | A variant was discovered on Chromosome 12, affecting COL2A1 (collagen type II alpha 1 chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Platyspondylic dysplasia, Torrance type | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... |
Task1_train_17468 | A mutation found in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Spondyloepimetaphyseal dysplasia, Strudwick type | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... |
Task1_train_17469 | Given this variant in gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Inborn genetic diseases | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... |
Task1_train_17470 | This genomic variant is located on Chromosome 12, within the COL2A1 (collagen type II alpha 1 chain) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Spondyloperipheral dysplasia | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... | TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCA... |
Task1_train_17471 | This variant lies on Chromosome 12 and affects the gene COL2A1 (collagen type II alpha 1 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | AGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGA... | AGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGA... |
Task1_train_17472 | A sequence alteration has been identified in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Stickler syndrome type 1 | CAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGG... | CAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGG... |
Task1_train_17473 | This mutation is located in gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Spondyloepimetaphyseal dysplasia, Strudwick type | CCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGA... | CCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGA... |
Task1_train_17474 | Here is a variant affecting COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | CCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGT... | CCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGT... |
Task1_train_17475 | This mutation occurs in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | CCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTG... | CCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTG... |
Task1_train_17476 | Mutation context: Chromosome 12, Gene COL2A1 (collagen type II alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Spondyloepimetaphyseal dysplasia, Strudwick type | CCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCT... | CCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCT... |
Task1_train_17477 | A genetic alteration is present in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | CCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCT... | CCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCT... |
Task1_train_17478 | Here’s a variant in COL2A1 (collagen type II alpha 1 chain) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | CCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCT... | CCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCT... |
Task1_train_17479 | This variant lies on Chromosome 12 and affects the gene COL2A1 (collagen type II alpha 1 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | ATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTT... | ATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTT... |
Task1_train_17480 | Assess the clinical impact of this variant on gene COL2A1 (collagen type II alpha 1 chain), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Kniest dysplasia | ATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAG... | ATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAG... |
Task1_train_17481 | This sequence variant lies in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | TCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCAT... | TCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCAT... |
Task1_train_17482 | Assess the clinical impact of this variant on gene COL2A1 (collagen type II alpha 1 chain), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | AGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCC... | AGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCC... |
Task1_train_17483 | A variant affecting Chromosome 12, within the gene COL2A1 (collagen type II alpha 1 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Spondyloepiphyseal dysplasia congenita | TTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACT... | TTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACT... |
Task1_train_17484 | A mutation in COL2A1 (collagen type II alpha 1 chain), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Spondyloepiphyseal dysplasia congenita | GAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAG... | GAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAG... |
Task1_train_17485 | This variant lies on Chromosome 12 and affects the gene COL2A1 (collagen type II alpha 1 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Stickler syndrome type 1 | GAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAG... | GAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAG... |
Task1_train_17486 | A mutation on Chromosome 12 affecting COL2A1 (collagen type II alpha 1 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | AATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAG... | AATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAG... |
Task1_train_17487 | Given a variant located on Chromosome 12 and affecting COL2A1 (collagen type II alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Otospondylomegaepiphyseal dysplasia, autosomal dominant | CAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGC... | CAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGC... |
Task1_train_17488 | The following genetic variant occurs in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Spondyloepiphyseal dysplasia congenita | AGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAG... | AGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAG... |
Task1_train_17489 | The variant affects gene COL2A1 (collagen type II alpha 1 chain), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Spondyloepiphyseal dysplasia congenita | GAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGG... | GAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGG... |
Task1_train_17490 | A mutation on Chromosome 12 affecting COL2A1 (collagen type II alpha 1 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Spondyloepiphyseal dysplasia congenita | TCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTC... | TCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTC... |
Task1_train_17491 | The following genetic variant occurs in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | AGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCT... | AGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCT... |
Task1_train_17492 | The gene COL2A1 (collagen type II alpha 1 chain), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | GAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTG... | GAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTG... |
Task1_train_17493 | This is a variant in COL2A1 (collagen type II alpha 1 chain), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | CTGGGGGCCACAGGCTGGGTGGAGCTGGGCCTAGGGCCTGACTGAGCAGGTCAGGGGGGTACCTTTTCCTGCTGAGTCCTGCCTGTCAGTCTCTGCCTCTCCTTAGAAGCTAAAGAAGGATGCTTTAGGGGGAGCTCGTGTTTTAAATACAACTCAACTCTTCTTCCTGGCTGGGGTCCATTTCTCCTAACGGAGACTCTCCAGATTGGCATTTAAGAGGAAAGCAAGAGAAAACTTAGAAAAAATGTCAGCAGGAACATAAAGCTTCAGGATTGGCCACAGCCCCTCTGGGCTGGCCTGGCTGCTTCGGGAAGCAGTTC... | CTGGGGGCCACAGGCTGGGTGGAGCTGGGCCTAGGGCCTGACTGAGCAGGTCAGGGGGGTACCTTTTCCTGCTGAGTCCTGCCTGTCAGTCTCTGCCTCTCCTTAGAAGCTAAAGAAGGATGCTTTAGGGGGAGCTCGTGTTTTAAATACAACTCAACTCTTCTTCCTGGCTGGGGTCCATTTCTCCTAACGGAGACTCTCCAGATTGGCATTTAAGAGGAAAGCAAGAGAAAACTTAGAAAAAATGTCAGCAGGAACATAAAGCTTCAGGATTGGCCACAGCCCCTCTGGGCTGGCCTGGCTGCTTCGGGAAGCAGTTC... |
Task1_train_17494 | This variant impacts the gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Spondyloepiphyseal dysplasia congenita | GGCCTAGGGCCTGACTGAGCAGGTCAGGGGGGTACCTTTTCCTGCTGAGTCCTGCCTGTCAGTCTCTGCCTCTCCTTAGAAGCTAAAGAAGGATGCTTTAGGGGGAGCTCGTGTTTTAAATACAACTCAACTCTTCTTCCTGGCTGGGGTCCATTTCTCCTAACGGAGACTCTCCAGATTGGCATTTAAGAGGAAAGCAAGAGAAAACTTAGAAAAAATGTCAGCAGGAACATAAAGCTTCAGGATTGGCCACAGCCCCTCTGGGCTGGCCTGGCTGCTTCGGGAAGCAGTTCCTTGGGGAGCTCTGGAGCACCCTCTCC... | GGCCTAGGGCCTGACTGAGCAGGTCAGGGGGGTACCTTTTCCTGCTGAGTCCTGCCTGTCAGTCTCTGCCTCTCCTTAGAAGCTAAAGAAGGATGCTTTAGGGGGAGCTCGTGTTTTAAATACAACTCAACTCTTCTTCCTGGCTGGGGTCCATTTCTCCTAACGGAGACTCTCCAGATTGGCATTTAAGAGGAAAGCAAGAGAAAACTTAGAAAAAATGTCAGCAGGAACATAAAGCTTCAGGATTGGCCACAGCCCCTCTGGGCTGGCCTGGCTGCTTCGGGAAGCAGTTCCTTGGGGAGCTCTGGAGCACCCTCTCC... |
Task1_train_17495 | A sequence alteration has been identified in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; not provided | CCTCGCTAAAAGGCCACAAGCCAGCATCCTGCTAATCTGTAGAAACGGCAGTGTTTCTTGGCAGCCCCAGTGCTCTCTAATCCCCTCACACAAAGTGACCCTGGGGCAAGGCACTTCAGCAGCTCTGGCTGACAAAGGGGGGTCGAGGCTTCTGCTTATTTCACTGATCTGCCTTTGAGGGAAACTTCTGCCAAACAGACACATTAGCTGGAAAGCAGCACAACGGAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATGAAATCAGCAGAAAGCAT... | CCTCGCTAAAAGGCCACAAGCCAGCATCCTGCTAATCTGTAGAAACGGCAGTGTTTCTTGGCAGCCCCAGTGCTCTCTAATCCCCTCACACAAAGTGACCCTGGGGCAAGGCACTTCAGCAGCTCTGGCTGACAAAGGGGGGTCGAGGCTTCTGCTTATTTCACTGATCTGCCTTTGAGGGAAACTTCTGCCAAACAGACACATTAGCTGGAAAGCAGCACAACGGAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATGAAATCAGCAGAAAGCAT... |
Task1_train_17496 | A variant was discovered in gene COL2A1 (collagen type II alpha 1 chain), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | AAGGCCACAAGCCAGCATCCTGCTAATCTGTAGAAACGGCAGTGTTTCTTGGCAGCCCCAGTGCTCTCTAATCCCCTCACACAAAGTGACCCTGGGGCAAGGCACTTCAGCAGCTCTGGCTGACAAAGGGGGGTCGAGGCTTCTGCTTATTTCACTGATCTGCCTTTGAGGGAAACTTCTGCCAAACAGACACATTAGCTGGAAAGCAGCACAACGGAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATGAAATCAGCAGAAAGCATAATCTTTCT... | AAGGCCACAAGCCAGCATCCTGCTAATCTGTAGAAACGGCAGTGTTTCTTGGCAGCCCCAGTGCTCTCTAATCCCCTCACACAAAGTGACCCTGGGGCAAGGCACTTCAGCAGCTCTGGCTGACAAAGGGGGGTCGAGGCTTCTGCTTATTTCACTGATCTGCCTTTGAGGGAAACTTCTGCCAAACAGACACATTAGCTGGAAAGCAGCACAACGGAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATGAAATCAGCAGAAAGCATAATCTTTCT... |
Task1_train_17497 | A variant on Chromosome 12 in gene COL2A1 (collagen type II alpha 1 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Spondyloepiphyseal dysplasia with metatarsal shortening | GAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATGAAATCAGCAGAAAGCATAATCTTTCTTAAACACAGCTTTCATCGCATCACTCGCCTGACCAAGTGCCTACAAGGACTCTCTATTGCTAAGGAATCAGAGCTAAACGCCTCTGTCTGGCACCCTGCACCCTCCATCAGCTGCCAATCCCCTCACCCTTAATTTCCCACATTAACTAGAGGCCACCAGAGTCTAAGGCTGCAAGGCACTATTTATCTTAAGCTATTTCACCTTTCTGTGTCTCG... | GAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATGAAATCAGCAGAAAGCATAATCTTTCTTAAACACAGCTTTCATCGCATCACTCGCCTGACCAAGTGCCTACAAGGACTCTCTATTGCTAAGGAATCAGAGCTAAACGCCTCTGTCTGGCACCCTGCACCCTCCATCAGCTGCCAATCCCCTCACCCTTAATTTCCCACATTAACTAGAGGCCACCAGAGTCTAAGGCTGCAAGGCACTATTTATCTTAAGCTATTTCACCTTTCTGTGTCTCG... |
Task1_train_17498 | Gene COL2A1 (collagen type II alpha 1 chain), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Achondrogenesis type II | GAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATGAAATCAGCAGAAAGCATAATCTTTCTTAAACACAGCTTTCATCGCATCACTCGCCTGACCAAGTGCCTACAAGGACTCTCTATTGCTAAGGAATCAGAGCTAAACGCCTCTGTCTGGCACCCTGCACCCTCCATCAGCTGCCAATCCCCTCACCCTTAATTTCCCACATTAACTAGAGGCCACCAGAGTCTAAGGCTGCAAGGCACTATTTATCTTAAGCTATTTCACCTTTCTGTGTCTCG... | GAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATGAAATCAGCAGAAAGCATAATCTTTCTTAAACACAGCTTTCATCGCATCACTCGCCTGACCAAGTGCCTACAAGGACTCTCTATTGCTAAGGAATCAGAGCTAAACGCCTCTGTCTGGCACCCTGCACCCTCCATCAGCTGCCAATCCCCTCACCCTTAATTTCCCACATTAACTAGAGGCCACCAGAGTCTAAGGCTGCAAGGCACTATTTATCTTAAGCTATTTCACCTTTCTGTGTCTCG... |
Task1_train_17499 | This gene mutation involves COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; Acetabular dysplasia | GAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATGAAATCAGCAGAAAGCATAATCTTTCTTAAACACAGCTTTCATCGCATCACTCGCCTGACCAAGTGCCTACAAGGACTCTCTATTGCTAAGGAATCAGAGCTAAACGCCTCTGTCTGGCACCCTGCACCCTCCATCAGCTGCCAATCCCCTCACCCTTAATTTCCCACATTAACTAGAGGCCACCAGAGTCTAAGGCTGCAAGGCACTATTTATCTTAAGCTATTTCACCTTTCTGTGTCTCG... | GAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATGAAATCAGCAGAAAGCATAATCTTTCTTAAACACAGCTTTCATCGCATCACTCGCCTGACCAAGTGCCTACAAGGACTCTCTATTGCTAAGGAATCAGAGCTAAACGCCTCTGTCTGGCACCCTGCACCCTCCATCAGCTGCCAATCCCCTCACCCTTAATTTCCCACATTAACTAGAGGCCACCAGAGTCTAAGGCTGCAAGGCACTATTTATCTTAAGCTATTTCACCTTTCTGTGTCTCG... |
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