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_17300 | Consider this mutation in LRRK2 (leucine rich repeat kinase 2) on Chromosome 12. Is this a benign change or a disease-causing variant? | Pathogenic; Autosomal dominant Parkinson disease 8 | TGACATGTAAAAGAACTCACCTAAATCTCAAGTATACTTTTAAGCAGTTTATTATTTTATTTTTATCTTTCAAATACTAGGTTTCTTCAACAGCGATTAAAAAAGGCTGTGCCTTATAACCGAATGAAACTTATGATTGTGGGAAATACTGGGAGTGGTAAAACCACCTTATTGCAGCAATTAATGAAAACCAAGAAATCAGATCTTGGAATGCAAAGTGCCACAGTTGGCATAGATGTGAAAGACTGGCCTATCCAAATAAGAGACAAAAGAAAGAGAGATCTCGTCCTAAATGTGTGGGATTTTGCAGGTATTTCTTT... | TGACATGTAAAAGAACTCACCTAAATCTCAAGTATACTTTTAAGCAGTTTATTATTTTATTTTTATCTTTCAAATACTAGGTTTCTTCAACAGCGATTAAAAAAGGCTGTGCCTTATAACCGAATGAAACTTATGATTGTGGGAAATACTGGGAGTGGTAAAACCACCTTATTGCAGCAATTAATGAAAACCAAGAAATCAGATCTTGGAATGCAAAGTGCCACAGTTGGCATAGATGTGAAAGACTGGCCTATCCAAATAAGAGACAAAAGAAAGAGAGATCTCGTCCTAAATGTGTGGGATTTTGCAGGTATTTCTTT... |
Task1_train_17301 | Gene LRRK2 (leucine rich repeat kinase 2) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Autosomal dominant Parkinson disease 8 | GTTTAAGTATTCCTTAAACATTATAGATCTCCCAAAGAAAATTAAATACAAACCTCTTTTTAAAGTGAATTTGACAAAGCAAAATAAATTGGAATATATAGATAAATATGCTAAAATTTGTCATATGTACTTTGCGTACTTTACATGTGTTATTTCATTCTCAGGGCAATCTAAGACAGTCACTTTTATTATCTCATTTTATAGAGAAGAAAGCTGTGCAGTAAAGAAATCAAATACCTTTCCCAAGGTTACAGAGCTAGTAGTAGAGCCTGGATTTGAATCTGGGTTCTGACTGATTTTTAACTGCCATGACAAGGATC... | GTTTAAGTATTCCTTAAACATTATAGATCTCCCAAAGAAAATTAAATACAAACCTCTTTTTAAAGTGAATTTGACAAAGCAAAATAAATTGGAATATATAGATAAATATGCTAAAATTTGTCATATGTACTTTGCGTACTTTACATGTGTTATTTCATTCTCAGGGCAATCTAAGACAGTCACTTTTATTATCTCATTTTATAGAGAAGAAAGCTGTGCAGTAAAGAAATCAAATACCTTTCCCAAGGTTACAGAGCTAGTAGTAGAGCCTGGATTTGAATCTGGGTTCTGACTGATTTTTAACTGCCATGACAAGGATC... |
Task1_train_17302 | A mutation found in LRRK2 (leucine rich repeat kinase 2) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | ATTTTTGGAATAATTCTATTCAGAATCAGATAAAGTTTACTTTAAGCTATGAAGAAAGAAGTCTCTTAGCAACTCTTACAATAATCACAATCAAAGAATGACTGTTTAACTTAATATAAACCAGTTTGTTTTAATAAAATATTTGACAATAGTCATGGTTACACAATGCATAAATTATGGCTAAATTATTATCAGGAAGGAAAAATCTTTACTTATTATTTCAAAAGCTATTTTGCTAGTCTATTAAAAGCTATTAGAACTGCACTTCTTAAGATTAAATTCTATAATTGAACATTTTAACTAACCAAGATATTATCTCT... | ATTTTTGGAATAATTCTATTCAGAATCAGATAAAGTTTACTTTAAGCTATGAAGAAAGAAGTCTCTTAGCAACTCTTACAATAATCACAATCAAAGAATGACTGTTTAACTTAATATAAACCAGTTTGTTTTAATAAAATATTTGACAATAGTCATGGTTACACAATGCATAAATTATGGCTAAATTATTATCAGGAAGGAAAAATCTTTACTTATTATTTCAAAAGCTATTTTGCTAGTCTATTAAAAGCTATTAGAACTGCACTTCTTAAGATTAAATTCTATAATTGAACATTTTAACTAACCAAGATATTATCTCT... |
Task1_train_17303 | Assess the clinical impact of this variant on gene PRICKLE1 (prickle planar cell polarity protein 1), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Epilepsy, progressive myoclonic, 1B | TCAGTCTCACCCACCATTCTTCCTCAACTCCCCTTTATTGCCGGCCTTATCTTTGACAAGTCCACAGAAGCCGGGGGGGTAGCTTTGCCGTACCCTTCCTTGTCACTGCAGTGTCTGGCACAAGTTATTCCTGGCAGGAAGCAGCTACTAAGCCTTTCCTGTCTACATTACAGAAGCATTACCTTCATCAAAGGGCTGGATGTCAGTAGTTTGACTATAAAACTAGCCATGCAACAGCAACATTTCTATAATCCAAAGACTTGTTGCAAATAATTTGCATAATGTCCTAGGTTCTAGGCCTAATCTTGCCTTTAGAACCT... | TCAGTCTCACCCACCATTCTTCCTCAACTCCCCTTTATTGCCGGCCTTATCTTTGACAAGTCCACAGAAGCCGGGGGGGTAGCTTTGCCGTACCCTTCCTTGTCACTGCAGTGTCTGGCACAAGTTATTCCTGGCAGGAAGCAGCTACTAAGCCTTTCCTGTCTACATTACAGAAGCATTACCTTCATCAAAGGGCTGGATGTCAGTAGTTTGACTATAAAACTAGCCATGCAACAGCAACATTTCTATAATCCAAAGACTTGTTGCAAATAATTTGCATAATGTCCTAGGTTCTAGGCCTAATCTTGCCTTTAGAACCT... |
Task1_train_17304 | This is a variant in VDR (vitamin D receptor), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; Vitamin D-dependent rickets type II with alopecia | TAGTTATATATGCTTGGGTGAGTCACGCCCTCCTCTGTCAGTTTTCCTGAATGAGGGGATTGACTCGTTTAGCAACTTACAAGTGTTTTCTCCCACTGAAGAGCAAGCTGGACCAATACGTTCTGCAGCTAAAATCAAACAAGGGTCTCTCCCTAGACCCTTGTAAAATAACAACAGCAATAATAATTAATGTACAGAAGTTTCACAATGTAAGTTCTCCCCCCATAAATATCTCCAAATCAGTGGTACCTGCTACCCTGTATATTAGACTATAATACAAATGGAGTCTGAGTCTGAAAACAACTCATATCTAATAAATT... | TAGTTATATATGCTTGGGTGAGTCACGCCCTCCTCTGTCAGTTTTCCTGAATGAGGGGATTGACTCGTTTAGCAACTTACAAGTGTTTTCTCCCACTGAAGAGCAAGCTGGACCAATACGTTCTGCAGCTAAAATCAAACAAGGGTCTCTCCCTAGACCCTTGTAAAATAACAACAGCAATAATAATTAATGTACAGAAGTTTCACAATGTAAGTTCTCCCCCCATAAATATCTCCAAATCAGTGGTACCTGCTACCCTGTATATTAGACTATAATACAAATGGAGTCTGAGTCTGAAAACAACTCATATCTAATAAATT... |
Task1_train_17305 | A variant was discovered on Chromosome 12, affecting VDR (vitamin D receptor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Vitamin D-dependent rickets type II with alopecia | TGAGTCACGCCCTCCTCTGTCAGTTTTCCTGAATGAGGGGATTGACTCGTTTAGCAACTTACAAGTGTTTTCTCCCACTGAAGAGCAAGCTGGACCAATACGTTCTGCAGCTAAAATCAAACAAGGGTCTCTCCCTAGACCCTTGTAAAATAACAACAGCAATAATAATTAATGTACAGAAGTTTCACAATGTAAGTTCTCCCCCCATAAATATCTCCAAATCAGTGGTACCTGCTACCCTGTATATTAGACTATAATACAAATGGAGTCTGAGTCTGAAAACAACTCATATCTAATAAATTTAAGATTAAGCGATATAT... | TGAGTCACGCCCTCCTCTGTCAGTTTTCCTGAATGAGGGGATTGACTCGTTTAGCAACTTACAAGTGTTTTCTCCCACTGAAGAGCAAGCTGGACCAATACGTTCTGCAGCTAAAATCAAACAAGGGTCTCTCCCTAGACCCTTGTAAAATAACAACAGCAATAATAATTAATGTACAGAAGTTTCACAATGTAAGTTCTCCCCCCATAAATATCTCCAAATCAGTGGTACCTGCTACCCTGTATATTAGACTATAATACAAATGGAGTCTGAGTCTGAAAACAACTCATATCTAATAAATTTAAGATTAAGCGATATAT... |
Task1_train_17306 | The gene VDR (vitamin D receptor), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Vitamin D-dependent rickets type II with alopecia | GAGTCACGCCCTCCTCTGTCAGTTTTCCTGAATGAGGGGATTGACTCGTTTAGCAACTTACAAGTGTTTTCTCCCACTGAAGAGCAAGCTGGACCAATACGTTCTGCAGCTAAAATCAAACAAGGGTCTCTCCCTAGACCCTTGTAAAATAACAACAGCAATAATAATTAATGTACAGAAGTTTCACAATGTAAGTTCTCCCCCCATAAATATCTCCAAATCAGTGGTACCTGCTACCCTGTATATTAGACTATAATACAAATGGAGTCTGAGTCTGAAAACAACTCATATCTAATAAATTTAAGATTAAGCGATATATA... | GAGTCACGCCCTCCTCTGTCAGTTTTCCTGAATGAGGGGATTGACTCGTTTAGCAACTTACAAGTGTTTTCTCCCACTGAAGAGCAAGCTGGACCAATACGTTCTGCAGCTAAAATCAAACAAGGGTCTCTCCCTAGACCCTTGTAAAATAACAACAGCAATAATAATTAATGTACAGAAGTTTCACAATGTAAGTTCTCCCCCCATAAATATCTCCAAATCAGTGGTACCTGCTACCCTGTATATTAGACTATAATACAAATGGAGTCTGAGTCTGAAAACAACTCATATCTAATAAATTTAAGATTAAGCGATATATA... |
Task1_train_17307 | This mutation occurs in VDR (vitamin D receptor) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Vitamin D-dependent rickets type II with alopecia | GAGTCACGCCCTCCTCTGTCAGTTTTCCTGAATGAGGGGATTGACTCGTTTAGCAACTTACAAGTGTTTTCTCCCACTGAAGAGCAAGCTGGACCAATACGTTCTGCAGCTAAAATCAAACAAGGGTCTCTCCCTAGACCCTTGTAAAATAACAACAGCAATAATAATTAATGTACAGAAGTTTCACAATGTAAGTTCTCCCCCCATAAATATCTCCAAATCAGTGGTACCTGCTACCCTGTATATTAGACTATAATACAAATGGAGTCTGAGTCTGAAAACAACTCATATCTAATAAATTTAAGATTAAGCGATATATA... | GAGTCACGCCCTCCTCTGTCAGTTTTCCTGAATGAGGGGATTGACTCGTTTAGCAACTTACAAGTGTTTTCTCCCACTGAAGAGCAAGCTGGACCAATACGTTCTGCAGCTAAAATCAAACAAGGGTCTCTCCCTAGACCCTTGTAAAATAACAACAGCAATAATAATTAATGTACAGAAGTTTCACAATGTAAGTTCTCCCCCCATAAATATCTCCAAATCAGTGGTACCTGCTACCCTGTATATTAGACTATAATACAAATGGAGTCTGAGTCTGAAAACAACTCATATCTAATAAATTTAAGATTAAGCGATATATA... |
Task1_train_17308 | A variant affecting Chromosome 12, within the gene VDR (vitamin D receptor), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Vitamin D-dependent rickets type II with alopecia | TAGGCGCTGGACAAGCGGGGCCTGCAGTGGGGGGAGGTGCAGGTGTCTCTGTCCCTGAGGAATGGATGCATTTCTCCTGTCTGTTCCCTCAACATCAGTCAGCAGCCACTTAGGCAGCGGTGGAGGCATCTCTGGGCAAGGCCCTGCCTCCAGCCTCTGCCCTCTGCCCCCACTTGGGTTTCTTTGTCAAACAAACAGCAACTCCTCATGGCTGAGGTCTCAAGGGACCGGGGAAAAGCCCGCAGGAAAGGGGTTAGGTTGGACAGGAGAGAGAATGGGCTGGGTGGATAGGGGAGGTGGCAGAGGAGGGGCTGAACCCC... | TAGGCGCTGGACAAGCGGGGCCTGCAGTGGGGGGAGGTGCAGGTGTCTCTGTCCCTGAGGAATGGATGCATTTCTCCTGTCTGTTCCCTCAACATCAGTCAGCAGCCACTTAGGCAGCGGTGGAGGCATCTCTGGGCAAGGCCCTGCCTCCAGCCTCTGCCCTCTGCCCCCACTTGGGTTTCTTTGTCAAACAAACAGCAACTCCTCATGGCTGAGGTCTCAAGGGACCGGGGAAAAGCCCGCAGGAAAGGGGTTAGGTTGGACAGGAGAGAGAATGGGCTGGGTGGATAGGGGAGGTGGCAGAGGAGGGGCTGAACCCC... |
Task1_train_17309 | The gene VDR (vitamin D receptor) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Vitamin D-dependent rickets type II with alopecia | TTTCTCCTGTCTGTTCCCTCAACATCAGTCAGCAGCCACTTAGGCAGCGGTGGAGGCATCTCTGGGCAAGGCCCTGCCTCCAGCCTCTGCCCTCTGCCCCCACTTGGGTTTCTTTGTCAAACAAACAGCAACTCCTCATGGCTGAGGTCTCAAGGGACCGGGGAAAAGCCCGCAGGAAAGGGGTTAGGTTGGACAGGAGAGAGAATGGGCTGGGTGGATAGGGGAGGTGGCAGAGGAGGGGCTGAACCCCAGACGGGGTGAGGAGGGCTGCTGAGTAGCCGCCAGCCCCGGGCCTGGCACGTGGCCCTGGAGGAGCAGCC... | TTTCTCCTGTCTGTTCCCTCAACATCAGTCAGCAGCCACTTAGGCAGCGGTGGAGGCATCTCTGGGCAAGGCCCTGCCTCCAGCCTCTGCCCTCTGCCCCCACTTGGGTTTCTTTGTCAAACAAACAGCAACTCCTCATGGCTGAGGTCTCAAGGGACCGGGGAAAAGCCCGCAGGAAAGGGGTTAGGTTGGACAGGAGAGAGAATGGGCTGGGTGGATAGGGGAGGTGGCAGAGGAGGGGCTGAACCCCAGACGGGGTGAGGAGGGCTGCTGAGTAGCCGCCAGCCCCGGGCCTGGCACGTGGCCCTGGAGGAGCAGCC... |
Task1_train_17310 | This gene mutation involves VDR (vitamin D receptor) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; Vitamin D-dependent rickets type II with alopecia | GGGCTGCTGAGTAGCCGCCAGCCCCGGGCCTGGCACGTGGCCCTGGAGGAGCAGCCCCACCCAGGCACCGCCACAGGCTGTCCTAGTCAGGAGATCTCATTGCCAAACACTTCGAGCACAAGGGGCGTTAGCTTCATGCTGCACTCAGGCTGGAAGGAGAGGCAGCGGTACTGCTTGGAGTGCTCCTCATTGAGGCTGCGCAGGTCGGCTAGCTTCTGGATCATCTTGGCATAGAGCAGGTGGCTGCCCGGGGGCGGGTGGCGGCAGCGGATGTACGTCTGCAGTGTGTTGGACAGGCGGTCCTGGATGGCCTCAATCAG... | GGGCTGCTGAGTAGCCGCCAGCCCCGGGCCTGGCACGTGGCCCTGGAGGAGCAGCCCCACCCAGGCACCGCCACAGGCTGTCCTAGTCAGGAGATCTCATTGCCAAACACTTCGAGCACAAGGGGCGTTAGCTTCATGCTGCACTCAGGCTGGAAGGAGAGGCAGCGGTACTGCTTGGAGTGCTCCTCATTGAGGCTGCGCAGGTCGGCTAGCTTCTGGATCATCTTGGCATAGAGCAGGTGGCTGCCCGGGGGCGGGTGGCGGCAGCGGATGTACGTCTGCAGTGTGTTGGACAGGCGGTCCTGGATGGCCTCAATCAG... |
Task1_train_17311 | This alteration in VDR (vitamin D receptor) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Vitamin D-dependent rickets type II with alopecia | CGTGGCCCTGGAGGAGCAGCCCCACCCAGGCACCGCCACAGGCTGTCCTAGTCAGGAGATCTCATTGCCAAACACTTCGAGCACAAGGGGCGTTAGCTTCATGCTGCACTCAGGCTGGAAGGAGAGGCAGCGGTACTGCTTGGAGTGCTCCTCATTGAGGCTGCGCAGGTCGGCTAGCTTCTGGATCATCTTGGCATAGAGCAGGTGGCTGCCCGGGGGCGGGTGGCGGCAGCGGATGTACGTCTGCAGTGTGTTGGACAGGCGGTCCTGGATGGCCTCAATCAGCGCGGCGTCCTGCACCCCAGGACGATCTGTGGGCA... | CGTGGCCCTGGAGGAGCAGCCCCACCCAGGCACCGCCACAGGCTGTCCTAGTCAGGAGATCTCATTGCCAAACACTTCGAGCACAAGGGGCGTTAGCTTCATGCTGCACTCAGGCTGGAAGGAGAGGCAGCGGTACTGCTTGGAGTGCTCCTCATTGAGGCTGCGCAGGTCGGCTAGCTTCTGGATCATCTTGGCATAGAGCAGGTGGCTGCCCGGGGGCGGGTGGCGGCAGCGGATGTACGTCTGCAGTGTGTTGGACAGGCGGTCCTGGATGGCCTCAATCAGCGCGGCGTCCTGCACCCCAGGACGATCTGTGGGCA... |
Task1_train_17312 | Chromosome 12 houses a mutation in gene VDR (vitamin D receptor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Vitamin D-dependent rickets type II with alopecia | AGGCTGGGGTGGGCGTGGCTGAGGGATGGGGTGGACATCGCTTCTGGGCTGCTGGGTTCCCACCACGTGGTAGGGTGCTCCTGGGCAGGGCCCCCTGATTTACCCCAGGCTGGTGCTGCTCTTCACCATGGATGCAGCGCTGTTTATGGGGACCAGGAGGCAGGTAGGAGGGGACATGAAGTCTGATTCTAGTCCCAGCTTGGCCACCAACTTGCTTTCTGACCCCAGACCTGAGGTCTTTACCTCTCTGAGTCTCAGATGTTCTTTCTATTTTAAGTCAGTAAGACATCCTCTTCCTCCTGAGGTAGGAGAGGGGCCTC... | AGGCTGGGGTGGGCGTGGCTGAGGGATGGGGTGGACATCGCTTCTGGGCTGCTGGGTTCCCACCACGTGGTAGGGTGCTCCTGGGCAGGGCCCCCTGATTTACCCCAGGCTGGTGCTGCTCTTCACCATGGATGCAGCGCTGTTTATGGGGACCAGGAGGCAGGTAGGAGGGGACATGAAGTCTGATTCTAGTCCCAGCTTGGCCACCAACTTGCTTTCTGACCCCAGACCTGAGGTCTTTACCTCTCTGAGTCTCAGATGTTCTTTCTATTTTAAGTCAGTAAGACATCCTCTTCCTCCTGAGGTAGGAGAGGGGCCTC... |
Task1_train_17313 | This variant affects the gene VDR (vitamin D receptor) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Vitamin D-dependent rickets type II with alopecia | CCCCCTGATTTACCCCAGGCTGGTGCTGCTCTTCACCATGGATGCAGCGCTGTTTATGGGGACCAGGAGGCAGGTAGGAGGGGACATGAAGTCTGATTCTAGTCCCAGCTTGGCCACCAACTTGCTTTCTGACCCCAGACCTGAGGTCTTTACCTCTCTGAGTCTCAGATGTTCTTTCTATTTTAAGTCAGTAAGACATCCTCTTCCTCCTGAGGTAGGAGAGGGGCCTCTTGGGCATCAGTGAGCTTAGTCCTGAGGGGAACTCCTGTGGCAGTGCCTTACGAACCACTGCAGTGGAACCTCGTGCCAGTCTTGGTTAG... | CCCCCTGATTTACCCCAGGCTGGTGCTGCTCTTCACCATGGATGCAGCGCTGTTTATGGGGACCAGGAGGCAGGTAGGAGGGGACATGAAGTCTGATTCTAGTCCCAGCTTGGCCACCAACTTGCTTTCTGACCCCAGACCTGAGGTCTTTACCTCTCTGAGTCTCAGATGTTCTTTCTATTTTAAGTCAGTAAGACATCCTCTTCCTCCTGAGGTAGGAGAGGGGCCTCTTGGGCATCAGTGAGCTTAGTCCTGAGGGGAACTCCTGTGGCAGTGCCTTACGAACCACTGCAGTGGAACCTCGTGCCAGTCTTGGTTAG... |
Task1_train_17314 | A genomic change on Chromosome 12 affects VDR (vitamin D receptor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Vitamin D-dependent rickets type II with alopecia | AGGCCTAGGAGGAGAGAGTGGATTTGGGGGTAGAGACTCCATAACCAAATGCTTTGGTTGCAGACTGACAAGATATGACCTTCGGTGAGAATCTCCATATTGACAACTCCTAGCCCAATGCCAGATTATAAATGCAGATTGAAGTCTGGTGACGGAATGAGTGAAAGAAACACAAGGCCAGACATGGTGGCTCATGCCTATAATCCTAGAACTTTGGGAGGCCAAGATGGAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAAGGAGGCCCCATCACTACAAAAAAATCACACAAACACACACACA... | AGGCCTAGGAGGAGAGAGTGGATTTGGGGGTAGAGACTCCATAACCAAATGCTTTGGTTGCAGACTGACAAGATATGACCTTCGGTGAGAATCTCCATATTGACAACTCCTAGCCCAATGCCAGATTATAAATGCAGATTGAAGTCTGGTGACGGAATGAGTGAAAGAAACACAAGGCCAGACATGGTGGCTCATGCCTATAATCCTAGAACTTTGGGAGGCCAAGATGGAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAAGGAGGCCCCATCACTACAAAAAAATCACACAAACACACACACA... |
Task1_train_17315 | This variant lies on Chromosome 12 and affects the gene VDR (vitamin D receptor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Vitamin D-dependent rickets type II with alopecia | CATAACCAAATGCTTTGGTTGCAGACTGACAAGATATGACCTTCGGTGAGAATCTCCATATTGACAACTCCTAGCCCAATGCCAGATTATAAATGCAGATTGAAGTCTGGTGACGGAATGAGTGAAAGAAACACAAGGCCAGACATGGTGGCTCATGCCTATAATCCTAGAACTTTGGGAGGCCAAGATGGAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAAGGAGGCCCCATCACTACAAAAAAATCACACAAACACACACACACACGAGGAAAGTGGCTGGCTGGCTGGCTGCGAGGCTTTT... | CATAACCAAATGCTTTGGTTGCAGACTGACAAGATATGACCTTCGGTGAGAATCTCCATATTGACAACTCCTAGCCCAATGCCAGATTATAAATGCAGATTGAAGTCTGGTGACGGAATGAGTGAAAGAAACACAAGGCCAGACATGGTGGCTCATGCCTATAATCCTAGAACTTTGGGAGGCCAAGATGGAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAAGGAGGCCCCATCACTACAAAAAAATCACACAAACACACACACACACGAGGAAAGTGGCTGGCTGGCTGGCTGCGAGGCTTTT... |
Task1_train_17316 | 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 | TGTTTTCAGTGATCATGTTTTCATTTTACTCCTTTGTCATGAACTAGCTCTGGTGGGGTATATAGTATTATTGTAGGTGTATATGTATGTATGTGTATATACATACATACATATATAAACCTAGGTATATATTATATATATTATTAAATAATATATAGGTATATATAGGTATATATAGGTGTATATATATAGGTATATATTATATATAGGTATATATTATTTAATAATATATAGGTATACATTAATAATATATAGGTATATATTATTTGTATAATAATATATGTATATATTTGTATAATATATGTATATATTATTATATT... | TGTTTTCAGTGATCATGTTTTCATTTTACTCCTTTGTCATGAACTAGCTCTGGTGGGGTATATAGTATTATTGTAGGTGTATATGTATGTATGTGTATATACATACATACATATATAAACCTAGGTATATATTATATATATTATTAAATAATATATAGGTATATATAGGTATATATAGGTGTATATATATAGGTATATATTATATATAGGTATATATTATTTAATAATATATAGGTATACATTAATAATATATAGGTATATATTATTTGTATAATAATATATGTATATATTTGTATAATATATGTATATATTATTATATT... |
Task1_train_17317 | 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; Stickler syndrome type 1 | TTCACAGAATGCTACTGCCCTCTGATTGATTTGGAGTCTCCCGCCCACTTCCCGCGTTCCCGTCACCGTGGAGAAGGGGACAACTTGCTCATTGTTGCCACCTGTCCAGGTCATTGAAAGGCAAGGGACACCCAAGAGTAGGAAGAAATGGGAAGCAGTCCATTCTTAAGCCTGGTGTTCAGAGTCCGTGGAAATTTTAAGTGCAGGCCCAGGGAGTGAAGAATGGGGGCCACAGTGGCGGGGGCAGGAGGAATATGGGTGGGCCAGGTCACATTTCCACCTCTCCTTGACCTACAACCAAAAGTCTTACAGAGGGACAC... | TTCACAGAATGCTACTGCCCTCTGATTGATTTGGAGTCTCCCGCCCACTTCCCGCGTTCCCGTCACCGTGGAGAAGGGGACAACTTGCTCATTGTTGCCACCTGTCCAGGTCATTGAAAGGCAAGGGACACCCAAGAGTAGGAAGAAATGGGAAGCAGTCCATTCTTAAGCCTGGTGTTCAGAGTCCGTGGAAATTTTAAGTGCAGGCCCAGGGAGTGAAGAATGGGGGCCACAGTGGCGGGGGCAGGAGGAATATGGGTGGGCCAGGTCACATTTCCACCTCTCCTTGACCTACAACCAAAAGTCTTACAGAGGGACAC... |
Task1_train_17318 | 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 | ATTGTTGCCACCTGTCCAGGTCATTGAAAGGCAAGGGACACCCAAGAGTAGGAAGAAATGGGAAGCAGTCCATTCTTAAGCCTGGTGTTCAGAGTCCGTGGAAATTTTAAGTGCAGGCCCAGGGAGTGAAGAATGGGGGCCACAGTGGCGGGGGCAGGAGGAATATGGGTGGGCCAGGTCACATTTCCACCTCTCCTTGACCTACAACCAAAAGTCTTACAGAGGGACACAAATAGATCACTCAGATTGATCGTGTGCACTTAACCACGGGCCCCTGCAGGATTTGCTCCCCTGTCTTCTTCCTTTCTCGAGGGAGTATC... | ATTGTTGCCACCTGTCCAGGTCATTGAAAGGCAAGGGACACCCAAGAGTAGGAAGAAATGGGAAGCAGTCCATTCTTAAGCCTGGTGTTCAGAGTCCGTGGAAATTTTAAGTGCAGGCCCAGGGAGTGAAGAATGGGGGCCACAGTGGCGGGGGCAGGAGGAATATGGGTGGGCCAGGTCACATTTCCACCTCTCCTTGACCTACAACCAAAAGTCTTACAGAGGGACACAAATAGATCACTCAGATTGATCGTGTGCACTTAACCACGGGCCCCTGCAGGATTTGCTCCCCTGTCTTCTTCCTTTCTCGAGGGAGTATC... |
Task1_train_17319 | 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; not provided | CTCAAGTTTTGGTTTCTGGTCCTGTTCAACAGTGGGTTCCACATAGTGCCAAGGTTTACCAGAGAGGCAAGTTCATGTTTGTGTGAGGCTGCTAACCCTGGCGGTGTGGCTTCAGTGTCCTTACTCTCGGTTGAAAAATCAACAGAAGAAGTCCTTAGGACTGCTATTTGGGCATGCCTACAGAACGGAGGATTAATGGAAAACAAACTAAAGAACAAACCACAAGTCAATATGTACTTTCCAATAATCTTTTCATTTTTAATATCAATTGATGTTTTAAAAAATACAGAGGTGTTTGACACAGAATAGCACCATTGTGT... | CTCAAGTTTTGGTTTCTGGTCCTGTTCAACAGTGGGTTCCACATAGTGCCAAGGTTTACCAGAGAGGCAAGTTCATGTTTGTGTGAGGCTGCTAACCCTGGCGGTGTGGCTTCAGTGTCCTTACTCTCGGTTGAAAAATCAACAGAAGAAGTCCTTAGGACTGCTATTTGGGCATGCCTACAGAACGGAGGATTAATGGAAAACAAACTAAAGAACAAACCACAAGTCAATATGTACTTTCCAATAATCTTTTCATTTTTAATATCAATTGATGTTTTAAAAAATACAGAGGTGTTTGACACAGAATAGCACCATTGTGT... |
Task1_train_17320 | 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 | TTTACCAGAGAGGCAAGTTCATGTTTGTGTGAGGCTGCTAACCCTGGCGGTGTGGCTTCAGTGTCCTTACTCTCGGTTGAAAAATCAACAGAAGAAGTCCTTAGGACTGCTATTTGGGCATGCCTACAGAACGGAGGATTAATGGAAAACAAACTAAAGAACAAACCACAAGTCAATATGTACTTTCCAATAATCTTTTCATTTTTAATATCAATTGATGTTTTAAAAAATACAGAGGTGTTTGACACAGAATAGCACCATTGTGTAGGACACACACAGTTCCTGCGCCCGGCACCTGAAGGGAGGTCTTCTGGCCTGGG... | TTTACCAGAGAGGCAAGTTCATGTTTGTGTGAGGCTGCTAACCCTGGCGGTGTGGCTTCAGTGTCCTTACTCTCGGTTGAAAAATCAACAGAAGAAGTCCTTAGGACTGCTATTTGGGCATGCCTACAGAACGGAGGATTAATGGAAAACAAACTAAAGAACAAACCACAAGTCAATATGTACTTTCCAATAATCTTTTCATTTTTAATATCAATTGATGTTTTAAAAAATACAGAGGTGTTTGACACAGAATAGCACCATTGTGTAGGACACACACAGTTCCTGCGCCCGGCACCTGAAGGGAGGTCTTCTGGCCTGGG... |
Task1_train_17321 | Consider this mutation in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is this a benign change or a disease-causing variant? | Pathogenic; Type 2 collagenopathy | ACTTACCGGTATGTTTCTAGGGGAGAAAAAAGGAGGAGGCTCTGTTCAGTAGATGCCTTGCTACCCAGTTCCAGCTGCCCAGAAGCCCAAAACTGAACAAACTGGCGAGCATCAGAGCCCACAAGGTTGAACCACACTGAGGGGGCTCCTGAGACCTCTTCTTGGCTTGCCAAAGGCCTCTCCACTTCAACTCCTATCCTTAGCGGCAGGGCCCTTCTCCACCCTGCCCTTCCCCTCCTTCCCCACTCCCCACAGTGAGCTCCCAACCTGTGACCGCTTCTTCACCCTGTACACATTGCGAGAACACTTCTACAGTAGTC... | ACTTACCGGTATGTTTCTAGGGGAGAAAAAAGGAGGAGGCTCTGTTCAGTAGATGCCTTGCTACCCAGTTCCAGCTGCCCAGAAGCCCAAAACTGAACAAACTGGCGAGCATCAGAGCCCACAAGGTTGAACCACACTGAGGGGGCTCCTGAGACCTCTTCTTGGCTTGCCAAAGGCCTCTCCACTTCAACTCCTATCCTTAGCGGCAGGGCCCTTCTCCACCCTGCCCTTCCCCTCCTTCCCCACTCCCCACAGTGAGCTCCCAACCTGTGACCGCTTCTTCACCCTGTACACATTGCGAGAACACTTCTACAGTAGTC... |
Task1_train_17322 | 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 | AGGGGAGAAAAAAGGAGGAGGCTCTGTTCAGTAGATGCCTTGCTACCCAGTTCCAGCTGCCCAGAAGCCCAAAACTGAACAAACTGGCGAGCATCAGAGCCCACAAGGTTGAACCACACTGAGGGGGCTCCTGAGACCTCTTCTTGGCTTGCCAAAGGCCTCTCCACTTCAACTCCTATCCTTAGCGGCAGGGCCCTTCTCCACCCTGCCCTTCCCCTCCTTCCCCACTCCCCACAGTGAGCTCCCAACCTGTGACCGCTTCTTCACCCTGTACACATTGCGAGAACACTTCTACAGTAGTCACTGGGTTCCAGGTAGGG... | AGGGGAGAAAAAAGGAGGAGGCTCTGTTCAGTAGATGCCTTGCTACCCAGTTCCAGCTGCCCAGAAGCCCAAAACTGAACAAACTGGCGAGCATCAGAGCCCACAAGGTTGAACCACACTGAGGGGGCTCCTGAGACCTCTTCTTGGCTTGCCAAAGGCCTCTCCACTTCAACTCCTATCCTTAGCGGCAGGGCCCTTCTCCACCCTGCCCTTCCCCTCCTTCCCCACTCCCCACAGTGAGCTCCCAACCTGTGACCGCTTCTTCACCCTGTACACATTGCGAGAACACTTCTACAGTAGTCACTGGGTTCCAGGTAGGG... |
Task1_train_17323 | 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; Spondyloepimetaphyseal dysplasia, Strudwick type | ACATGACCCTCAAACTCATGCCTCTGATGATCCTGTCACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAA... | ACATGACCCTCAAACTCATGCCTCTGATGATCCTGTCACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAA... |
Task1_train_17324 | 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; Spondyloepiphyseal dysplasia congenita | CATGACCCTCAAACTCATGCCTCTGATGATCCTGTCACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAG... | CATGACCCTCAAACTCATGCCTCTGATGATCCTGTCACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAG... |
Task1_train_17325 | 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 | GATCCTGTCACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGA... | GATCCTGTCACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGA... |
Task1_train_17326 | 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; Spondyloepiphyseal dysplasia congenita | ACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTG... | ACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTG... |
Task1_train_17327 | 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; Avascular necrosis of femoral head, primary, 1 | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... |
Task1_train_17328 | 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; Namaqualand hip dysplasia | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... |
Task1_train_17329 | 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; Achondrogenesis type II | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... |
Task1_train_17330 | 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, Stanescu type | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... |
Task1_train_17331 | 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; Vitreoretinopathy with phalangeal epiphyseal dysplasia | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... |
Task1_train_17332 | 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; Stickler syndrome, type I, nonsyndromic ocular | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... |
Task1_train_17333 | 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; Platyspondylic dysplasia, Torrance type | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... |
Task1_train_17334 | 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; Spondyloperipheral dysplasia | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... |
Task1_train_17335 | Consider this mutation in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is this a benign change or a disease-causing variant? | Pathogenic; Stickler syndrome type 1 | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... |
Task1_train_17336 | 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; Multiple epiphyseal dysplasia, Beighton type | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... |
Task1_train_17337 | 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; Spondyloepiphyseal dysplasia with metatarsal shortening | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... |
Task1_train_17338 | 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; Kniest dysplasia | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... |
Task1_train_17339 | 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; Spondyloepimetaphyseal dysplasia, Strudwick type | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... |
Task1_train_17340 | 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; Spondyloepiphyseal dysplasia congenita | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... |
Task1_train_17341 | 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; Legg-Calve-Perthes disease | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... |
Task1_train_17342 | 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; Avascular necrosis of femoral head, primary, 1 | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... | CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCA... |
Task1_train_17343 | 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 1 | CCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGC... | CCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGC... |
Task1_train_17344 | Consider this mutation in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is this a benign change or a disease-causing variant? | Pathogenic; Spondyloepiphyseal dysplasia congenita | AGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAA... | AGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAA... |
Task1_train_17345 | 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; Spondyloperipheral dysplasia | AGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAA... | AGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAA... |
Task1_train_17346 | 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; Spondyloepiphyseal dysplasia, Stanescu type | CTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGG... | CTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGG... |
Task1_train_17347 | 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; not provided | GGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCC... | GGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCC... |
Task1_train_17348 | 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; not provided | ATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAG... | ATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAG... |
Task1_train_17349 | 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; Spondyloepiphyseal dysplasia congenita | CAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCT... | CAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCT... |
Task1_train_17350 | 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 | GGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGG... | GGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGG... |
Task1_train_17351 | 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; Spondyloepiphyseal dysplasia congenita | AGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATG... | AGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATG... |
Task1_train_17352 | 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; not provided | GTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTG... | GTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTG... |
Task1_train_17353 | 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; Inborn genetic diseases | GCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGG... | GCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGG... |
Task1_train_17354 | 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; Hypochondrogenesis | CACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGA... | CACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGA... |
Task1_train_17355 | 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 | TTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTC... | TTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTC... |
Task1_train_17356 | 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; Hypochondrogenesis | CCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCT... | CCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCT... |
Task1_train_17357 | 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; Achondrogenesis type II | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... |
Task1_train_17358 | 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; Type 2 collagenopathy | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... |
Task1_train_17359 | 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 | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... |
Task1_train_17360 | 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; Achondrogenesis type II | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... |
Task1_train_17361 | Gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Namaqualand hip dysplasia | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... |
Task1_train_17362 | 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; Avascular necrosis of femoral head, primary, 1 | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... |
Task1_train_17363 | 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; Spondyloperipheral dysplasia | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... |
Task1_train_17364 | The gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Stickler syndrome type 1 | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... |
Task1_train_17365 | 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; Platyspondylic dysplasia, Torrance type | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... |
Task1_train_17366 | 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; Vitreoretinopathy with phalangeal epiphyseal dysplasia | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... |
Task1_train_17367 | 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; Multiple epiphyseal dysplasia, Beighton type | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... |
Task1_train_17368 | 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; Spondyloepimetaphyseal dysplasia, Strudwick type | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... |
Task1_train_17369 | 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; Spondyloepiphyseal dysplasia congenita | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... |
Task1_train_17370 | 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; Spondyloepiphyseal dysplasia with metatarsal shortening | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... |
Task1_train_17371 | 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 I, nonsyndromic ocular | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... |
Task1_train_17372 | 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; Legg-Calve-Perthes disease | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... |
Task1_train_17373 | 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; Kniest dysplasia | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... |
Task1_train_17374 | 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, Stanescu type | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... |
Task1_train_17375 | 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; Spondyloepimetaphyseal dysplasia, Strudwick type | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... | CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCC... |
Task1_train_17376 | 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; Absent vertebral body mineralization | ACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCA... | ACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCA... |
Task1_train_17377 | 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; Short ribs | ACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCA... | ACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCA... |
Task1_train_17378 | 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; Achondrogenesis type II | ACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCA... | ACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCA... |
Task1_train_17379 | 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; Spondyloperipheral dysplasia | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... |
Task1_train_17380 | 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; Spondyloepiphyseal dysplasia congenita | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... |
Task1_train_17381 | 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, Stanescu type | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... |
Task1_train_17382 | 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; Spondyloperipheral dysplasia | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... |
Task1_train_17383 | 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 | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... |
Task1_train_17384 | 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; Multiple epiphyseal dysplasia, Beighton type | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... |
Task1_train_17385 | 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; Achondrogenesis type II | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... |
Task1_train_17386 | 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; Spondyloepiphyseal dysplasia, Stanescu type | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... |
Task1_train_17387 | A sequence alteration has been identified in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Avascular necrosis of femoral head, primary, 1 | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... |
Task1_train_17388 | 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; Platyspondylic dysplasia, Torrance type | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... |
Task1_train_17389 | 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; Stickler syndrome type 1 | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... |
Task1_train_17390 | 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; Spondyloperipheral dysplasia | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... |
Task1_train_17391 | 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; Kniest dysplasia | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... |
Task1_train_17392 | 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; Legg-Calve-Perthes disease | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... |
Task1_train_17393 | 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; Stickler syndrome, type I, nonsyndromic ocular | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... |
Task1_train_17394 | Consider this mutation in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is this a benign change or a disease-causing variant? | Pathogenic; Spondylometaphyseal dysplasia | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... |
Task1_train_17395 | 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 | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... |
Task1_train_17396 | 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; Namaqualand hip dysplasia | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... | GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTC... |
Task1_train_17397 | The gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Achondrogenesis type II | CGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATT... | CGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATT... |
Task1_train_17398 | 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 | GGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCC... | GGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCC... |
Task1_train_17399 | 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; not provided | CCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAG... | CCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAG... |
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