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_4900 | This gene mutation involves COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Ehlers-Danlos syndrome, type 4 | ACTATTTTTTGGTTTATTTTCTATGGAGATGTTTATTTTTGAGTGAATCTTTTAGTCATATTAACCAGAATCCAGGGGATATGAATTTTACTTGTATCATTAAGTGTTTGAAAAATAATTTGACTTCATTTTTTTGCTCAAAATGAGAAGGTGTATTATATGATCTCGAGACTCTTTTGGCCTCAAACAGCCTATGATCCTATGTTTGTAATGATGTAGCTACTGCTTAGAAATAATAGCTTAAGTAAGCGCATAATAGGAAAAATTGGGGGGAACTAACATTGAACACAGTGGAAAGATTTGTGCATCCCACAAGAAAA... | ACTATTTTTTGGTTTATTTTCTATGGAGATGTTTATTTTTGAGTGAATCTTTTAGTCATATTAACCAGAATCCAGGGGATATGAATTTTACTTGTATCATTAAGTGTTTGAAAAATAATTTGACTTCATTTTTTTGCTCAAAATGAGAAGGTGTATTATATGATCTCGAGACTCTTTTGGCCTCAAACAGCCTATGATCCTATGTTTGTAATGATGTAGCTACTGCTTAGAAATAATAGCTTAAGTAAGCGCATAATAGGAAAAATTGGGGGGAACTAACATTGAACACAGTGGAAAGATTTGTGCATCCCACAAGAAAA... |
Task1_train_4901 | This mutation occurs in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TGGTTTATTTTCTATGGAGATGTTTATTTTTGAGTGAATCTTTTAGTCATATTAACCAGAATCCAGGGGATATGAATTTTACTTGTATCATTAAGTGTTTGAAAAATAATTTGACTTCATTTTTTTGCTCAAAATGAGAAGGTGTATTATATGATCTCGAGACTCTTTTGGCCTCAAACAGCCTATGATCCTATGTTTGTAATGATGTAGCTACTGCTTAGAAATAATAGCTTAAGTAAGCGCATAATAGGAAAAATTGGGGGGAACTAACATTGAACACAGTGGAAAGATTTGTGCATCCCACAAGAAAATGCTTCTGT... | TGGTTTATTTTCTATGGAGATGTTTATTTTTGAGTGAATCTTTTAGTCATATTAACCAGAATCCAGGGGATATGAATTTTACTTGTATCATTAAGTGTTTGAAAAATAATTTGACTTCATTTTTTTGCTCAAAATGAGAAGGTGTATTATATGATCTCGAGACTCTTTTGGCCTCAAACAGCCTATGATCCTATGTTTGTAATGATGTAGCTACTGCTTAGAAATAATAGCTTAAGTAAGCGCATAATAGGAAAAATTGGGGGGAACTAACATTGAACACAGTGGAAAGATTTGTGCATCCCACAAGAAAATGCTTCTGT... |
Task1_train_4902 | With a mutation on Chromosome 2 in gene COL3A1 (collagen type III alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Ehlers-Danlos syndrome, type 4 | TTCTATGGAGATGTTTATTTTTGAGTGAATCTTTTAGTCATATTAACCAGAATCCAGGGGATATGAATTTTACTTGTATCATTAAGTGTTTGAAAAATAATTTGACTTCATTTTTTTGCTCAAAATGAGAAGGTGTATTATATGATCTCGAGACTCTTTTGGCCTCAAACAGCCTATGATCCTATGTTTGTAATGATGTAGCTACTGCTTAGAAATAATAGCTTAAGTAAGCGCATAATAGGAAAAATTGGGGGGAACTAACATTGAACACAGTGGAAAGATTTGTGCATCCCACAAGAAAATGCTTCTGTAGGATATCT... | TTCTATGGAGATGTTTATTTTTGAGTGAATCTTTTAGTCATATTAACCAGAATCCAGGGGATATGAATTTTACTTGTATCATTAAGTGTTTGAAAAATAATTTGACTTCATTTTTTTGCTCAAAATGAGAAGGTGTATTATATGATCTCGAGACTCTTTTGGCCTCAAACAGCCTATGATCCTATGTTTGTAATGATGTAGCTACTGCTTAGAAATAATAGCTTAAGTAAGCGCATAATAGGAAAAATTGGGGGGAACTAACATTGAACACAGTGGAAAGATTTGTGCATCCCACAAGAAAATGCTTCTGTAGGATATCT... |
Task1_train_4903 | The gene COL3A1 (collagen type III alpha 1 chain), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Ehlers-Danlos syndrome, type 4 | GATGTTTATTTTTGAGTGAATCTTTTAGTCATATTAACCAGAATCCAGGGGATATGAATTTTACTTGTATCATTAAGTGTTTGAAAAATAATTTGACTTCATTTTTTTGCTCAAAATGAGAAGGTGTATTATATGATCTCGAGACTCTTTTGGCCTCAAACAGCCTATGATCCTATGTTTGTAATGATGTAGCTACTGCTTAGAAATAATAGCTTAAGTAAGCGCATAATAGGAAAAATTGGGGGGAACTAACATTGAACACAGTGGAAAGATTTGTGCATCCCACAAGAAAATGCTTCTGTAGGATATCTAACGTCTAA... | GATGTTTATTTTTGAGTGAATCTTTTAGTCATATTAACCAGAATCCAGGGGATATGAATTTTACTTGTATCATTAAGTGTTTGAAAAATAATTTGACTTCATTTTTTTGCTCAAAATGAGAAGGTGTATTATATGATCTCGAGACTCTTTTGGCCTCAAACAGCCTATGATCCTATGTTTGTAATGATGTAGCTACTGCTTAGAAATAATAGCTTAAGTAAGCGCATAATAGGAAAAATTGGGGGGAACTAACATTGAACACAGTGGAAAGATTTGTGCATCCCACAAGAAAATGCTTCTGTAGGATATCTAACGTCTAA... |
Task1_train_4904 | A variant affecting Chromosome 2, within the gene COL3A1 (collagen type III alpha 1 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Ehlers-Danlos syndrome, type 4 | TTTTGAGTGAATCTTTTAGTCATATTAACCAGAATCCAGGGGATATGAATTTTACTTGTATCATTAAGTGTTTGAAAAATAATTTGACTTCATTTTTTTGCTCAAAATGAGAAGGTGTATTATATGATCTCGAGACTCTTTTGGCCTCAAACAGCCTATGATCCTATGTTTGTAATGATGTAGCTACTGCTTAGAAATAATAGCTTAAGTAAGCGCATAATAGGAAAAATTGGGGGGAACTAACATTGAACACAGTGGAAAGATTTGTGCATCCCACAAGAAAATGCTTCTGTAGGATATCTAACGTCTAAATCTACAGA... | TTTTGAGTGAATCTTTTAGTCATATTAACCAGAATCCAGGGGATATGAATTTTACTTGTATCATTAAGTGTTTGAAAAATAATTTGACTTCATTTTTTTGCTCAAAATGAGAAGGTGTATTATATGATCTCGAGACTCTTTTGGCCTCAAACAGCCTATGATCCTATGTTTGTAATGATGTAGCTACTGCTTAGAAATAATAGCTTAAGTAAGCGCATAATAGGAAAAATTGGGGGGAACTAACATTGAACACAGTGGAAAGATTTGTGCATCCCACAAGAAAATGCTTCTGTAGGATATCTAACGTCTAAATCTACAGA... |
Task1_train_4905 | A sequence alteration has been identified in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TTTGAGTGAATCTTTTAGTCATATTAACCAGAATCCAGGGGATATGAATTTTACTTGTATCATTAAGTGTTTGAAAAATAATTTGACTTCATTTTTTTGCTCAAAATGAGAAGGTGTATTATATGATCTCGAGACTCTTTTGGCCTCAAACAGCCTATGATCCTATGTTTGTAATGATGTAGCTACTGCTTAGAAATAATAGCTTAAGTAAGCGCATAATAGGAAAAATTGGGGGGAACTAACATTGAACACAGTGGAAAGATTTGTGCATCCCACAAGAAAATGCTTCTGTAGGATATCTAACGTCTAAATCTACAGAA... | TTTGAGTGAATCTTTTAGTCATATTAACCAGAATCCAGGGGATATGAATTTTACTTGTATCATTAAGTGTTTGAAAAATAATTTGACTTCATTTTTTTGCTCAAAATGAGAAGGTGTATTATATGATCTCGAGACTCTTTTGGCCTCAAACAGCCTATGATCCTATGTTTGTAATGATGTAGCTACTGCTTAGAAATAATAGCTTAAGTAAGCGCATAATAGGAAAAATTGGGGGGAACTAACATTGAACACAGTGGAAAGATTTGTGCATCCCACAAGAAAATGCTTCTGTAGGATATCTAACGTCTAAATCTACAGAA... |
Task1_train_4906 | Gene COL3A1 (collagen type III alpha 1 chain) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Ehlers-Danlos syndrome, type 4 | ATCTTTTAGTCATATTAACCAGAATCCAGGGGATATGAATTTTACTTGTATCATTAAGTGTTTGAAAAATAATTTGACTTCATTTTTTTGCTCAAAATGAGAAGGTGTATTATATGATCTCGAGACTCTTTTGGCCTCAAACAGCCTATGATCCTATGTTTGTAATGATGTAGCTACTGCTTAGAAATAATAGCTTAAGTAAGCGCATAATAGGAAAAATTGGGGGGAACTAACATTGAACACAGTGGAAAGATTTGTGCATCCCACAAGAAAATGCTTCTGTAGGATATCTAACGTCTAAATCTACAGAAAGACACGAT... | ATCTTTTAGTCATATTAACCAGAATCCAGGGGATATGAATTTTACTTGTATCATTAAGTGTTTGAAAAATAATTTGACTTCATTTTTTTGCTCAAAATGAGAAGGTGTATTATATGATCTCGAGACTCTTTTGGCCTCAAACAGCCTATGATCCTATGTTTGTAATGATGTAGCTACTGCTTAGAAATAATAGCTTAAGTAAGCGCATAATAGGAAAAATTGGGGGGAACTAACATTGAACACAGTGGAAAGATTTGTGCATCCCACAAGAAAATGCTTCTGTAGGATATCTAACGTCTAAATCTACAGAAAGACACGAT... |
Task1_train_4907 | A genomic change on Chromosome 2 affects COL3A1 (collagen type III alpha 1 chain). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Ehlers-Danlos syndrome, type 4 | TTTTTACTAAAAAAAAAAACCAAAGTCAACACTTATTAACATCTCAGAAAAGTGTTTATAAGAGAAAATGGAAATATACAAACTATTGTTTTATAAATTTACTATCAGTATTTAGAAACAGCATGTTACAAAACTGAAGCATACTGTTTTCAGCTTGCTGAAGGTTTTCTAGTTTAATCTGTATTTCTGAACAATGATAAATCAATTGTCCTATGTATGATGATTCTTGCATGATCATATAAATCTCTATGTCAATTAACTCTGTGATAGATATATCAACATAATTATGGGACTTTTGGGTTGATTTACATTATTATTTT... | TTTTTACTAAAAAAAAAAACCAAAGTCAACACTTATTAACATCTCAGAAAAGTGTTTATAAGAGAAAATGGAAATATACAAACTATTGTTTTATAAATTTACTATCAGTATTTAGAAACAGCATGTTACAAAACTGAAGCATACTGTTTTCAGCTTGCTGAAGGTTTTCTAGTTTAATCTGTATTTCTGAACAATGATAAATCAATTGTCCTATGTATGATGATTCTTGCATGATCATATAAATCTCTATGTCAATTAACTCTGTGATAGATATATCAACATAATTATGGGACTTTTGGGTTGATTTACATTATTATTTT... |
Task1_train_4908 | This alteration occurs within gene COL3A1 (collagen type III alpha 1 chain) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Ehlers-Danlos syndrome, type 4 | ACCAAAGTCAACACTTATTAACATCTCAGAAAAGTGTTTATAAGAGAAAATGGAAATATACAAACTATTGTTTTATAAATTTACTATCAGTATTTAGAAACAGCATGTTACAAAACTGAAGCATACTGTTTTCAGCTTGCTGAAGGTTTTCTAGTTTAATCTGTATTTCTGAACAATGATAAATCAATTGTCCTATGTATGATGATTCTTGCATGATCATATAAATCTCTATGTCAATTAACTCTGTGATAGATATATCAACATAATTATGGGACTTTTGGGTTGATTTACATTATTATTTTAGATACTTGATTATAGGA... | ACCAAAGTCAACACTTATTAACATCTCAGAAAAGTGTTTATAAGAGAAAATGGAAATATACAAACTATTGTTTTATAAATTTACTATCAGTATTTAGAAACAGCATGTTACAAAACTGAAGCATACTGTTTTCAGCTTGCTGAAGGTTTTCTAGTTTAATCTGTATTTCTGAACAATGATAAATCAATTGTCCTATGTATGATGATTCTTGCATGATCATATAAATCTCTATGTCAATTAACTCTGTGATAGATATATCAACATAATTATGGGACTTTTGGGTTGATTTACATTATTATTTTAGATACTTGATTATAGGA... |
Task1_train_4909 | Mutation context: Chromosome 2, Gene COL3A1 (collagen type III alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Ehlers-Danlos syndrome, type 4 | CCAAAGTCAACACTTATTAACATCTCAGAAAAGTGTTTATAAGAGAAAATGGAAATATACAAACTATTGTTTTATAAATTTACTATCAGTATTTAGAAACAGCATGTTACAAAACTGAAGCATACTGTTTTCAGCTTGCTGAAGGTTTTCTAGTTTAATCTGTATTTCTGAACAATGATAAATCAATTGTCCTATGTATGATGATTCTTGCATGATCATATAAATCTCTATGTCAATTAACTCTGTGATAGATATATCAACATAATTATGGGACTTTTGGGTTGATTTACATTATTATTTTAGATACTTGATTATAGGAT... | CCAAAGTCAACACTTATTAACATCTCAGAAAAGTGTTTATAAGAGAAAATGGAAATATACAAACTATTGTTTTATAAATTTACTATCAGTATTTAGAAACAGCATGTTACAAAACTGAAGCATACTGTTTTCAGCTTGCTGAAGGTTTTCTAGTTTAATCTGTATTTCTGAACAATGATAAATCAATTGTCCTATGTATGATGATTCTTGCATGATCATATAAATCTCTATGTCAATTAACTCTGTGATAGATATATCAACATAATTATGGGACTTTTGGGTTGATTTACATTATTATTTTAGATACTTGATTATAGGAT... |
Task1_train_4910 | Here is a genetic alteration in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Ehlers-Danlos syndrome, type 4 | CCAAAGTCAACACTTATTAACATCTCAGAAAAGTGTTTATAAGAGAAAATGGAAATATACAAACTATTGTTTTATAAATTTACTATCAGTATTTAGAAACAGCATGTTACAAAACTGAAGCATACTGTTTTCAGCTTGCTGAAGGTTTTCTAGTTTAATCTGTATTTCTGAACAATGATAAATCAATTGTCCTATGTATGATGATTCTTGCATGATCATATAAATCTCTATGTCAATTAACTCTGTGATAGATATATCAACATAATTATGGGACTTTTGGGTTGATTTACATTATTATTTTAGATACTTGATTATAGGAT... | CCAAAGTCAACACTTATTAACATCTCAGAAAAGTGTTTATAAGAGAAAATGGAAATATACAAACTATTGTTTTATAAATTTACTATCAGTATTTAGAAACAGCATGTTACAAAACTGAAGCATACTGTTTTCAGCTTGCTGAAGGTTTTCTAGTTTAATCTGTATTTCTGAACAATGATAAATCAATTGTCCTATGTATGATGATTCTTGCATGATCATATAAATCTCTATGTCAATTAACTCTGTGATAGATATATCAACATAATTATGGGACTTTTGGGTTGATTTACATTATTATTTTAGATACTTGATTATAGGAT... |
Task1_train_4911 | A variant has been detected on Chromosome 2 in COL3A1 (collagen type III alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Ehlers-Danlos syndrome, type 4 | ACACTTATTAACATCTCAGAAAAGTGTTTATAAGAGAAAATGGAAATATACAAACTATTGTTTTATAAATTTACTATCAGTATTTAGAAACAGCATGTTACAAAACTGAAGCATACTGTTTTCAGCTTGCTGAAGGTTTTCTAGTTTAATCTGTATTTCTGAACAATGATAAATCAATTGTCCTATGTATGATGATTCTTGCATGATCATATAAATCTCTATGTCAATTAACTCTGTGATAGATATATCAACATAATTATGGGACTTTTGGGTTGATTTACATTATTATTTTAGATACTTGATTATAGGATTTCTAGTGT... | ACACTTATTAACATCTCAGAAAAGTGTTTATAAGAGAAAATGGAAATATACAAACTATTGTTTTATAAATTTACTATCAGTATTTAGAAACAGCATGTTACAAAACTGAAGCATACTGTTTTCAGCTTGCTGAAGGTTTTCTAGTTTAATCTGTATTTCTGAACAATGATAAATCAATTGTCCTATGTATGATGATTCTTGCATGATCATATAAATCTCTATGTCAATTAACTCTGTGATAGATATATCAACATAATTATGGGACTTTTGGGTTGATTTACATTATTATTTTAGATACTTGATTATAGGATTTCTAGTGT... |
Task1_train_4912 | This sequence variant lies in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | ACACTTATTAACATCTCAGAAAAGTGTTTATAAGAGAAAATGGAAATATACAAACTATTGTTTTATAAATTTACTATCAGTATTTAGAAACAGCATGTTACAAAACTGAAGCATACTGTTTTCAGCTTGCTGAAGGTTTTCTAGTTTAATCTGTATTTCTGAACAATGATAAATCAATTGTCCTATGTATGATGATTCTTGCATGATCATATAAATCTCTATGTCAATTAACTCTGTGATAGATATATCAACATAATTATGGGACTTTTGGGTTGATTTACATTATTATTTTAGATACTTGATTATAGGATTTCTAGTGT... | ACACTTATTAACATCTCAGAAAAGTGTTTATAAGAGAAAATGGAAATATACAAACTATTGTTTTATAAATTTACTATCAGTATTTAGAAACAGCATGTTACAAAACTGAAGCATACTGTTTTCAGCTTGCTGAAGGTTTTCTAGTTTAATCTGTATTTCTGAACAATGATAAATCAATTGTCCTATGTATGATGATTCTTGCATGATCATATAAATCTCTATGTCAATTAACTCTGTGATAGATATATCAACATAATTATGGGACTTTTGGGTTGATTTACATTATTATTTTAGATACTTGATTATAGGATTTCTAGTGT... |
Task1_train_4913 | This sequence variant lies in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Ehlers-Danlos syndrome, type 4 | ACACTTATTAACATCTCAGAAAAGTGTTTATAAGAGAAAATGGAAATATACAAACTATTGTTTTATAAATTTACTATCAGTATTTAGAAACAGCATGTTACAAAACTGAAGCATACTGTTTTCAGCTTGCTGAAGGTTTTCTAGTTTAATCTGTATTTCTGAACAATGATAAATCAATTGTCCTATGTATGATGATTCTTGCATGATCATATAAATCTCTATGTCAATTAACTCTGTGATAGATATATCAACATAATTATGGGACTTTTGGGTTGATTTACATTATTATTTTAGATACTTGATTATAGGATTTCTAGTGT... | ACACTTATTAACATCTCAGAAAAGTGTTTATAAGAGAAAATGGAAATATACAAACTATTGTTTTATAAATTTACTATCAGTATTTAGAAACAGCATGTTACAAAACTGAAGCATACTGTTTTCAGCTTGCTGAAGGTTTTCTAGTTTAATCTGTATTTCTGAACAATGATAAATCAATTGTCCTATGTATGATGATTCTTGCATGATCATATAAATCTCTATGTCAATTAACTCTGTGATAGATATATCAACATAATTATGGGACTTTTGGGTTGATTTACATTATTATTTTAGATACTTGATTATAGGATTTCTAGTGT... |
Task1_train_4914 | This variant affects gene COL3A1 (collagen type III alpha 1 chain) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | ACACTTATTAACATCTCAGAAAAGTGTTTATAAGAGAAAATGGAAATATACAAACTATTGTTTTATAAATTTACTATCAGTATTTAGAAACAGCATGTTACAAAACTGAAGCATACTGTTTTCAGCTTGCTGAAGGTTTTCTAGTTTAATCTGTATTTCTGAACAATGATAAATCAATTGTCCTATGTATGATGATTCTTGCATGATCATATAAATCTCTATGTCAATTAACTCTGTGATAGATATATCAACATAATTATGGGACTTTTGGGTTGATTTACATTATTATTTTAGATACTTGATTATAGGATTTCTAGTGT... | ACACTTATTAACATCTCAGAAAAGTGTTTATAAGAGAAAATGGAAATATACAAACTATTGTTTTATAAATTTACTATCAGTATTTAGAAACAGCATGTTACAAAACTGAAGCATACTGTTTTCAGCTTGCTGAAGGTTTTCTAGTTTAATCTGTATTTCTGAACAATGATAAATCAATTGTCCTATGTATGATGATTCTTGCATGATCATATAAATCTCTATGTCAATTAACTCTGTGATAGATATATCAACATAATTATGGGACTTTTGGGTTGATTTACATTATTATTTTAGATACTTGATTATAGGATTTCTAGTGT... |
Task1_train_4915 | Chromosome 2 houses a mutation in gene COL3A1 (collagen type III alpha 1 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | ACACTTATTAACATCTCAGAAAAGTGTTTATAAGAGAAAATGGAAATATACAAACTATTGTTTTATAAATTTACTATCAGTATTTAGAAACAGCATGTTACAAAACTGAAGCATACTGTTTTCAGCTTGCTGAAGGTTTTCTAGTTTAATCTGTATTTCTGAACAATGATAAATCAATTGTCCTATGTATGATGATTCTTGCATGATCATATAAATCTCTATGTCAATTAACTCTGTGATAGATATATCAACATAATTATGGGACTTTTGGGTTGATTTACATTATTATTTTAGATACTTGATTATAGGATTTCTAGTGT... | ACACTTATTAACATCTCAGAAAAGTGTTTATAAGAGAAAATGGAAATATACAAACTATTGTTTTATAAATTTACTATCAGTATTTAGAAACAGCATGTTACAAAACTGAAGCATACTGTTTTCAGCTTGCTGAAGGTTTTCTAGTTTAATCTGTATTTCTGAACAATGATAAATCAATTGTCCTATGTATGATGATTCTTGCATGATCATATAAATCTCTATGTCAATTAACTCTGTGATAGATATATCAACATAATTATGGGACTTTTGGGTTGATTTACATTATTATTTTAGATACTTGATTATAGGATTTCTAGTGT... |
Task1_train_4916 | This gene mutation involves COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Ehlers-Danlos syndrome, type 4 | AACATCTCAGAAAAGTGTTTATAAGAGAAAATGGAAATATACAAACTATTGTTTTATAAATTTACTATCAGTATTTAGAAACAGCATGTTACAAAACTGAAGCATACTGTTTTCAGCTTGCTGAAGGTTTTCTAGTTTAATCTGTATTTCTGAACAATGATAAATCAATTGTCCTATGTATGATGATTCTTGCATGATCATATAAATCTCTATGTCAATTAACTCTGTGATAGATATATCAACATAATTATGGGACTTTTGGGTTGATTTACATTATTATTTTAGATACTTGATTATAGGATTTCTAGTGTGCCAATAAA... | AACATCTCAGAAAAGTGTTTATAAGAGAAAATGGAAATATACAAACTATTGTTTTATAAATTTACTATCAGTATTTAGAAACAGCATGTTACAAAACTGAAGCATACTGTTTTCAGCTTGCTGAAGGTTTTCTAGTTTAATCTGTATTTCTGAACAATGATAAATCAATTGTCCTATGTATGATGATTCTTGCATGATCATATAAATCTCTATGTCAATTAACTCTGTGATAGATATATCAACATAATTATGGGACTTTTGGGTTGATTTACATTATTATTTTAGATACTTGATTATAGGATTTCTAGTGTGCCAATAAA... |
Task1_train_4917 | The gene COL3A1 (collagen type III alpha 1 chain) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Ehlers-Danlos syndrome, type 4 | AACATCTCAGAAAAGTGTTTATAAGAGAAAATGGAAATATACAAACTATTGTTTTATAAATTTACTATCAGTATTTAGAAACAGCATGTTACAAAACTGAAGCATACTGTTTTCAGCTTGCTGAAGGTTTTCTAGTTTAATCTGTATTTCTGAACAATGATAAATCAATTGTCCTATGTATGATGATTCTTGCATGATCATATAAATCTCTATGTCAATTAACTCTGTGATAGATATATCAACATAATTATGGGACTTTTGGGTTGATTTACATTATTATTTTAGATACTTGATTATAGGATTTCTAGTGTGCCAATAAA... | AACATCTCAGAAAAGTGTTTATAAGAGAAAATGGAAATATACAAACTATTGTTTTATAAATTTACTATCAGTATTTAGAAACAGCATGTTACAAAACTGAAGCATACTGTTTTCAGCTTGCTGAAGGTTTTCTAGTTTAATCTGTATTTCTGAACAATGATAAATCAATTGTCCTATGTATGATGATTCTTGCATGATCATATAAATCTCTATGTCAATTAACTCTGTGATAGATATATCAACATAATTATGGGACTTTTGGGTTGATTTACATTATTATTTTAGATACTTGATTATAGGATTTCTAGTGTGCCAATAAA... |
Task1_train_4918 | Gene COL3A1 (collagen type III alpha 1 chain) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Ehlers-Danlos syndrome, type 4 | AGAAAAGTGTTTATAAGAGAAAATGGAAATATACAAACTATTGTTTTATAAATTTACTATCAGTATTTAGAAACAGCATGTTACAAAACTGAAGCATACTGTTTTCAGCTTGCTGAAGGTTTTCTAGTTTAATCTGTATTTCTGAACAATGATAAATCAATTGTCCTATGTATGATGATTCTTGCATGATCATATAAATCTCTATGTCAATTAACTCTGTGATAGATATATCAACATAATTATGGGACTTTTGGGTTGATTTACATTATTATTTTAGATACTTGATTATAGGATTTCTAGTGTGCCAATAAATGTTTTTC... | AGAAAAGTGTTTATAAGAGAAAATGGAAATATACAAACTATTGTTTTATAAATTTACTATCAGTATTTAGAAACAGCATGTTACAAAACTGAAGCATACTGTTTTCAGCTTGCTGAAGGTTTTCTAGTTTAATCTGTATTTCTGAACAATGATAAATCAATTGTCCTATGTATGATGATTCTTGCATGATCATATAAATCTCTATGTCAATTAACTCTGTGATAGATATATCAACATAATTATGGGACTTTTGGGTTGATTTACATTATTATTTTAGATACTTGATTATAGGATTTCTAGTGTGCCAATAAATGTTTTTC... |
Task1_train_4919 | Here’s a variant in COL3A1 (collagen type III alpha 1 chain) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Ehlers-Danlos syndrome, type 4 | GAAAAGTGTTTATAAGAGAAAATGGAAATATACAAACTATTGTTTTATAAATTTACTATCAGTATTTAGAAACAGCATGTTACAAAACTGAAGCATACTGTTTTCAGCTTGCTGAAGGTTTTCTAGTTTAATCTGTATTTCTGAACAATGATAAATCAATTGTCCTATGTATGATGATTCTTGCATGATCATATAAATCTCTATGTCAATTAACTCTGTGATAGATATATCAACATAATTATGGGACTTTTGGGTTGATTTACATTATTATTTTAGATACTTGATTATAGGATTTCTAGTGTGCCAATAAATGTTTTTCT... | GAAAAGTGTTTATAAGAGAAAATGGAAATATACAAACTATTGTTTTATAAATTTACTATCAGTATTTAGAAACAGCATGTTACAAAACTGAAGCATACTGTTTTCAGCTTGCTGAAGGTTTTCTAGTTTAATCTGTATTTCTGAACAATGATAAATCAATTGTCCTATGTATGATGATTCTTGCATGATCATATAAATCTCTATGTCAATTAACTCTGTGATAGATATATCAACATAATTATGGGACTTTTGGGTTGATTTACATTATTATTTTAGATACTTGATTATAGGATTTCTAGTGTGCCAATAAATGTTTTTCT... |
Task1_train_4920 | Gene COL3A1 (collagen type III alpha 1 chain), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TTCCAGGGCCCCCCAGGCCCTCCCGGTCCCCCTGGTACATCTGGTCATCCTGGTTCCCCTGTAAGTATAGCCATTGGTGGTGTTTTCTTCCTCATTTTTAGAAAAATCAAATTAATATATATTCTGCTATAATTCAGCCATTCCAGCATGCATAATCCCAGTTAACTAGAGAAATCATAACCAAGAAACTGATTAAGGCTTCAAAGATGGAATTCCATATTTAATTCCTTTCCACCAACAGTTATTAGCAATTGAAATCTTGGTAAAATTAAACCACATTAATTTGCATGTAATATGACTTTTAGTTCAAAACCATTCAG... | TTCCAGGGCCCCCCAGGCCCTCCCGGTCCCCCTGGTACATCTGGTCATCCTGGTTCCCCTGTAAGTATAGCCATTGGTGGTGTTTTCTTCCTCATTTTTAGAAAAATCAAATTAATATATATTCTGCTATAATTCAGCCATTCCAGCATGCATAATCCCAGTTAACTAGAGAAATCATAACCAAGAAACTGATTAAGGCTTCAAAGATGGAATTCCATATTTAATTCCTTTCCACCAACAGTTATTAGCAATTGAAATCTTGGTAAAATTAAACCACATTAATTTGCATGTAATATGACTTTTAGTTCAAAACCATTCAG... |
Task1_train_4921 | With a mutation on Chromosome 2 in gene COL3A1 (collagen type III alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Ehlers-Danlos syndrome, type 4 | CCCCAGGCCCTCCCGGTCCCCCTGGTACATCTGGTCATCCTGGTTCCCCTGTAAGTATAGCCATTGGTGGTGTTTTCTTCCTCATTTTTAGAAAAATCAAATTAATATATATTCTGCTATAATTCAGCCATTCCAGCATGCATAATCCCAGTTAACTAGAGAAATCATAACCAAGAAACTGATTAAGGCTTCAAAGATGGAATTCCATATTTAATTCCTTTCCACCAACAGTTATTAGCAATTGAAATCTTGGTAAAATTAAACCACATTAATTTGCATGTAATATGACTTTTAGTTCAAAACCATTCAGTTTTGATGGA... | CCCCAGGCCCTCCCGGTCCCCCTGGTACATCTGGTCATCCTGGTTCCCCTGTAAGTATAGCCATTGGTGGTGTTTTCTTCCTCATTTTTAGAAAAATCAAATTAATATATATTCTGCTATAATTCAGCCATTCCAGCATGCATAATCCCAGTTAACTAGAGAAATCATAACCAAGAAACTGATTAAGGCTTCAAAGATGGAATTCCATATTTAATTCCTTTCCACCAACAGTTATTAGCAATTGAAATCTTGGTAAAATTAAACCACATTAATTTGCATGTAATATGACTTTTAGTTCAAAACCATTCAGTTTTGATGGA... |
Task1_train_4922 | Chromosome 2 houses a mutation in gene COL3A1 (collagen type III alpha 1 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Ehlers-Danlos syndrome, type 4 | CCCCAGGCCCTCCCGGTCCCCCTGGTACATCTGGTCATCCTGGTTCCCCTGTAAGTATAGCCATTGGTGGTGTTTTCTTCCTCATTTTTAGAAAAATCAAATTAATATATATTCTGCTATAATTCAGCCATTCCAGCATGCATAATCCCAGTTAACTAGAGAAATCATAACCAAGAAACTGATTAAGGCTTCAAAGATGGAATTCCATATTTAATTCCTTTCCACCAACAGTTATTAGCAATTGAAATCTTGGTAAAATTAAACCACATTAATTTGCATGTAATATGACTTTTAGTTCAAAACCATTCAGTTTTGATGGA... | CCCCAGGCCCTCCCGGTCCCCCTGGTACATCTGGTCATCCTGGTTCCCCTGTAAGTATAGCCATTGGTGGTGTTTTCTTCCTCATTTTTAGAAAAATCAAATTAATATATATTCTGCTATAATTCAGCCATTCCAGCATGCATAATCCCAGTTAACTAGAGAAATCATAACCAAGAAACTGATTAAGGCTTCAAAGATGGAATTCCATATTTAATTCCTTTCCACCAACAGTTATTAGCAATTGAAATCTTGGTAAAATTAAACCACATTAATTTGCATGTAATATGACTTTTAGTTCAAAACCATTCAGTTTTGATGGA... |
Task1_train_4923 | This variant affects gene COL3A1 (collagen type III alpha 1 chain) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Ehlers-Danlos syndrome, type 4 | CTCCCGGTCCCCCTGGTACATCTGGTCATCCTGGTTCCCCTGTAAGTATAGCCATTGGTGGTGTTTTCTTCCTCATTTTTAGAAAAATCAAATTAATATATATTCTGCTATAATTCAGCCATTCCAGCATGCATAATCCCAGTTAACTAGAGAAATCATAACCAAGAAACTGATTAAGGCTTCAAAGATGGAATTCCATATTTAATTCCTTTCCACCAACAGTTATTAGCAATTGAAATCTTGGTAAAATTAAACCACATTAATTTGCATGTAATATGACTTTTAGTTCAAAACCATTCAGTTTTGATGGATTGCAATGA... | CTCCCGGTCCCCCTGGTACATCTGGTCATCCTGGTTCCCCTGTAAGTATAGCCATTGGTGGTGTTTTCTTCCTCATTTTTAGAAAAATCAAATTAATATATATTCTGCTATAATTCAGCCATTCCAGCATGCATAATCCCAGTTAACTAGAGAAATCATAACCAAGAAACTGATTAAGGCTTCAAAGATGGAATTCCATATTTAATTCCTTTCCACCAACAGTTATTAGCAATTGAAATCTTGGTAAAATTAAACCACATTAATTTGCATGTAATATGACTTTTAGTTCAAAACCATTCAGTTTTGATGGATTGCAATGA... |
Task1_train_4924 | The gene COL3A1 (collagen type III alpha 1 chain) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Ehlers-Danlos syndrome, type 4 | AAACTGATTAAGGCTTCAAAGATGGAATTCCATATTTAATTCCTTTCCACCAACAGTTATTAGCAATTGAAATCTTGGTAAAATTAAACCACATTAATTTGCATGTAATATGACTTTTAGTTCAAAACCATTCAGTTTTGATGGATTGCAATGAATGGAATGAAATACATTAACTTCATTCTGATCTAAAAATAATTTGGTCTCAATATTTATAAACTGGAGTAAAATTTGCTGATTACATTCACAATCCTGATTTCTTACTGTCAAGATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTC... | AAACTGATTAAGGCTTCAAAGATGGAATTCCATATTTAATTCCTTTCCACCAACAGTTATTAGCAATTGAAATCTTGGTAAAATTAAACCACATTAATTTGCATGTAATATGACTTTTAGTTCAAAACCATTCAGTTTTGATGGATTGCAATGAATGGAATGAAATACATTAACTTCATTCTGATCTAAAAATAATTTGGTCTCAATATTTATAAACTGGAGTAAAATTTGCTGATTACATTCACAATCCTGATTTCTTACTGTCAAGATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTC... |
Task1_train_4925 | A variant found in Chromosome 2 affects COL3A1 (collagen type III alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TAAGGCTTCAAAGATGGAATTCCATATTTAATTCCTTTCCACCAACAGTTATTAGCAATTGAAATCTTGGTAAAATTAAACCACATTAATTTGCATGTAATATGACTTTTAGTTCAAAACCATTCAGTTTTGATGGATTGCAATGAATGGAATGAAATACATTAACTTCATTCTGATCTAAAAATAATTTGGTCTCAATATTTATAAACTGGAGTAAAATTTGCTGATTACATTCACAATCCTGATTTCTTACTGTCAAGATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTCTACTCACT... | TAAGGCTTCAAAGATGGAATTCCATATTTAATTCCTTTCCACCAACAGTTATTAGCAATTGAAATCTTGGTAAAATTAAACCACATTAATTTGCATGTAATATGACTTTTAGTTCAAAACCATTCAGTTTTGATGGATTGCAATGAATGGAATGAAATACATTAACTTCATTCTGATCTAAAAATAATTTGGTCTCAATATTTATAAACTGGAGTAAAATTTGCTGATTACATTCACAATCCTGATTTCTTACTGTCAAGATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTCTACTCACT... |
Task1_train_4926 | Consider this mutation in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TAAGGCTTCAAAGATGGAATTCCATATTTAATTCCTTTCCACCAACAGTTATTAGCAATTGAAATCTTGGTAAAATTAAACCACATTAATTTGCATGTAATATGACTTTTAGTTCAAAACCATTCAGTTTTGATGGATTGCAATGAATGGAATGAAATACATTAACTTCATTCTGATCTAAAAATAATTTGGTCTCAATATTTATAAACTGGAGTAAAATTTGCTGATTACATTCACAATCCTGATTTCTTACTGTCAAGATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTCTACTCACT... | TAAGGCTTCAAAGATGGAATTCCATATTTAATTCCTTTCCACCAACAGTTATTAGCAATTGAAATCTTGGTAAAATTAAACCACATTAATTTGCATGTAATATGACTTTTAGTTCAAAACCATTCAGTTTTGATGGATTGCAATGAATGGAATGAAATACATTAACTTCATTCTGATCTAAAAATAATTTGGTCTCAATATTTATAAACTGGAGTAAAATTTGCTGATTACATTCACAATCCTGATTTCTTACTGTCAAGATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTCTACTCACT... |
Task1_train_4927 | This alteration in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TAAGGCTTCAAAGATGGAATTCCATATTTAATTCCTTTCCACCAACAGTTATTAGCAATTGAAATCTTGGTAAAATTAAACCACATTAATTTGCATGTAATATGACTTTTAGTTCAAAACCATTCAGTTTTGATGGATTGCAATGAATGGAATGAAATACATTAACTTCATTCTGATCTAAAAATAATTTGGTCTCAATATTTATAAACTGGAGTAAAATTTGCTGATTACATTCACAATCCTGATTTCTTACTGTCAAGATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTCTACTCACT... | TAAGGCTTCAAAGATGGAATTCCATATTTAATTCCTTTCCACCAACAGTTATTAGCAATTGAAATCTTGGTAAAATTAAACCACATTAATTTGCATGTAATATGACTTTTAGTTCAAAACCATTCAGTTTTGATGGATTGCAATGAATGGAATGAAATACATTAACTTCATTCTGATCTAAAAATAATTTGGTCTCAATATTTATAAACTGGAGTAAAATTTGCTGATTACATTCACAATCCTGATTTCTTACTGTCAAGATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTCTACTCACT... |
Task1_train_4928 | A variant was discovered on Chromosome 2, affecting COL3A1 (collagen type III alpha 1 chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Ehlers-Danlos syndrome, type 4 | AAGGCTTCAAAGATGGAATTCCATATTTAATTCCTTTCCACCAACAGTTATTAGCAATTGAAATCTTGGTAAAATTAAACCACATTAATTTGCATGTAATATGACTTTTAGTTCAAAACCATTCAGTTTTGATGGATTGCAATGAATGGAATGAAATACATTAACTTCATTCTGATCTAAAAATAATTTGGTCTCAATATTTATAAACTGGAGTAAAATTTGCTGATTACATTCACAATCCTGATTTCTTACTGTCAAGATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTCTACTCACTA... | AAGGCTTCAAAGATGGAATTCCATATTTAATTCCTTTCCACCAACAGTTATTAGCAATTGAAATCTTGGTAAAATTAAACCACATTAATTTGCATGTAATATGACTTTTAGTTCAAAACCATTCAGTTTTGATGGATTGCAATGAATGGAATGAAATACATTAACTTCATTCTGATCTAAAAATAATTTGGTCTCAATATTTATAAACTGGAGTAAAATTTGCTGATTACATTCACAATCCTGATTTCTTACTGTCAAGATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTCTACTCACTA... |
Task1_train_4929 | A sequence alteration has been identified in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Ehlers-Danlos syndrome, type 4 | AAGGCTTCAAAGATGGAATTCCATATTTAATTCCTTTCCACCAACAGTTATTAGCAATTGAAATCTTGGTAAAATTAAACCACATTAATTTGCATGTAATATGACTTTTAGTTCAAAACCATTCAGTTTTGATGGATTGCAATGAATGGAATGAAATACATTAACTTCATTCTGATCTAAAAATAATTTGGTCTCAATATTTATAAACTGGAGTAAAATTTGCTGATTACATTCACAATCCTGATTTCTTACTGTCAAGATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTCTACTCACTA... | AAGGCTTCAAAGATGGAATTCCATATTTAATTCCTTTCCACCAACAGTTATTAGCAATTGAAATCTTGGTAAAATTAAACCACATTAATTTGCATGTAATATGACTTTTAGTTCAAAACCATTCAGTTTTGATGGATTGCAATGAATGGAATGAAATACATTAACTTCATTCTGATCTAAAAATAATTTGGTCTCAATATTTATAAACTGGAGTAAAATTTGCTGATTACATTCACAATCCTGATTTCTTACTGTCAAGATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTCTACTCACTA... |
Task1_train_4930 | The gene COL3A1 (collagen type III alpha 1 chain) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Ehlers-Danlos syndrome, type 4 | AAGATGGAATTCCATATTTAATTCCTTTCCACCAACAGTTATTAGCAATTGAAATCTTGGTAAAATTAAACCACATTAATTTGCATGTAATATGACTTTTAGTTCAAAACCATTCAGTTTTGATGGATTGCAATGAATGGAATGAAATACATTAACTTCATTCTGATCTAAAAATAATTTGGTCTCAATATTTATAAACTGGAGTAAAATTTGCTGATTACATTCACAATCCTGATTTCTTACTGTCAAGATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTCTACTCACTAGGGATCTCC... | AAGATGGAATTCCATATTTAATTCCTTTCCACCAACAGTTATTAGCAATTGAAATCTTGGTAAAATTAAACCACATTAATTTGCATGTAATATGACTTTTAGTTCAAAACCATTCAGTTTTGATGGATTGCAATGAATGGAATGAAATACATTAACTTCATTCTGATCTAAAAATAATTTGGTCTCAATATTTATAAACTGGAGTAAAATTTGCTGATTACATTCACAATCCTGATTTCTTACTGTCAAGATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTCTACTCACTAGGGATCTCC... |
Task1_train_4931 | Here’s a variant in COL3A1 (collagen type III alpha 1 chain) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Ehlers-Danlos syndrome, type 4 | AAGATGGAATTCCATATTTAATTCCTTTCCACCAACAGTTATTAGCAATTGAAATCTTGGTAAAATTAAACCACATTAATTTGCATGTAATATGACTTTTAGTTCAAAACCATTCAGTTTTGATGGATTGCAATGAATGGAATGAAATACATTAACTTCATTCTGATCTAAAAATAATTTGGTCTCAATATTTATAAACTGGAGTAAAATTTGCTGATTACATTCACAATCCTGATTTCTTACTGTCAAGATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTCTACTCACTAGGGATCTCC... | AAGATGGAATTCCATATTTAATTCCTTTCCACCAACAGTTATTAGCAATTGAAATCTTGGTAAAATTAAACCACATTAATTTGCATGTAATATGACTTTTAGTTCAAAACCATTCAGTTTTGATGGATTGCAATGAATGGAATGAAATACATTAACTTCATTCTGATCTAAAAATAATTTGGTCTCAATATTTATAAACTGGAGTAAAATTTGCTGATTACATTCACAATCCTGATTTCTTACTGTCAAGATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTCTACTCACTAGGGATCTCC... |
Task1_train_4932 | This alteration occurs within gene COL3A1 (collagen type III alpha 1 chain) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TAATTCCTTTCCACCAACAGTTATTAGCAATTGAAATCTTGGTAAAATTAAACCACATTAATTTGCATGTAATATGACTTTTAGTTCAAAACCATTCAGTTTTGATGGATTGCAATGAATGGAATGAAATACATTAACTTCATTCTGATCTAAAAATAATTTGGTCTCAATATTTATAAACTGGAGTAAAATTTGCTGATTACATTCACAATCCTGATTTCTTACTGTCAAGATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTCTACTCACTAGGGATCTCCAGGATACCAAGGACCCCC... | TAATTCCTTTCCACCAACAGTTATTAGCAATTGAAATCTTGGTAAAATTAAACCACATTAATTTGCATGTAATATGACTTTTAGTTCAAAACCATTCAGTTTTGATGGATTGCAATGAATGGAATGAAATACATTAACTTCATTCTGATCTAAAAATAATTTGGTCTCAATATTTATAAACTGGAGTAAAATTTGCTGATTACATTCACAATCCTGATTTCTTACTGTCAAGATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTCTACTCACTAGGGATCTCCAGGATACCAAGGACCCCC... |
Task1_train_4933 | A variant on Chromosome 2 in gene COL3A1 (collagen type III alpha 1 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Ehlers-Danlos syndrome, type 4 | CTACTGATAAATATAGTTATATATTTACATATGTAAATATACATATACATATATCTTAGACAGTAGAAATAAACATAATCTTAGAGAGTCCTTTAGAAGGATATGCTCTGTAAATAAGCAAGTAAAATAGTTTAAATACAACATTTCATGACATTTAGAAATACCTTTATATTTAGATATATTTAATATTCCTAAACGTGTAGAAATGCATTTGGATTTATAAATACACATACGTAATATATGATGCTTTTAATTTTTATTAACAGTAAGTTGATATAATAGAGGTATAATATTAACTCAGTAAGTATCATTTTCATTAT... | CTACTGATAAATATAGTTATATATTTACATATGTAAATATACATATACATATATCTTAGACAGTAGAAATAAACATAATCTTAGAGAGTCCTTTAGAAGGATATGCTCTGTAAATAAGCAAGTAAAATAGTTTAAATACAACATTTCATGACATTTAGAAATACCTTTATATTTAGATATATTTAATATTCCTAAACGTGTAGAAATGCATTTGGATTTATAAATACACATACGTAATATATGATGCTTTTAATTTTTATTAACAGTAAGTTGATATAATAGAGGTATAATATTAACTCAGTAAGTATCATTTTCATTAT... |
Task1_train_4934 | With a mutation on Chromosome 2 in gene COL3A1 (collagen type III alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Ehlers-Danlos syndrome, type 4 | TACTGATAAATATAGTTATATATTTACATATGTAAATATACATATACATATATCTTAGACAGTAGAAATAAACATAATCTTAGAGAGTCCTTTAGAAGGATATGCTCTGTAAATAAGCAAGTAAAATAGTTTAAATACAACATTTCATGACATTTAGAAATACCTTTATATTTAGATATATTTAATATTCCTAAACGTGTAGAAATGCATTTGGATTTATAAATACACATACGTAATATATGATGCTTTTAATTTTTATTAACAGTAAGTTGATATAATAGAGGTATAATATTAACTCAGTAAGTATCATTTTCATTATC... | TACTGATAAATATAGTTATATATTTACATATGTAAATATACATATACATATATCTTAGACAGTAGAAATAAACATAATCTTAGAGAGTCCTTTAGAAGGATATGCTCTGTAAATAAGCAAGTAAAATAGTTTAAATACAACATTTCATGACATTTAGAAATACCTTTATATTTAGATATATTTAATATTCCTAAACGTGTAGAAATGCATTTGGATTTATAAATACACATACGTAATATATGATGCTTTTAATTTTTATTAACAGTAAGTTGATATAATAGAGGTATAATATTAACTCAGTAAGTATCATTTTCATTATC... |
Task1_train_4935 | Here’s a variant in COL3A1 (collagen type III alpha 1 chain) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Ehlers-Danlos syndrome, type 4 | CATATGTAAATATACATATACATATATCTTAGACAGTAGAAATAAACATAATCTTAGAGAGTCCTTTAGAAGGATATGCTCTGTAAATAAGCAAGTAAAATAGTTTAAATACAACATTTCATGACATTTAGAAATACCTTTATATTTAGATATATTTAATATTCCTAAACGTGTAGAAATGCATTTGGATTTATAAATACACATACGTAATATATGATGCTTTTAATTTTTATTAACAGTAAGTTGATATAATAGAGGTATAATATTAACTCAGTAAGTATCATTTTCATTATCAGAAACATTAAAAGTATTTTCTAAAA... | CATATGTAAATATACATATACATATATCTTAGACAGTAGAAATAAACATAATCTTAGAGAGTCCTTTAGAAGGATATGCTCTGTAAATAAGCAAGTAAAATAGTTTAAATACAACATTTCATGACATTTAGAAATACCTTTATATTTAGATATATTTAATATTCCTAAACGTGTAGAAATGCATTTGGATTTATAAATACACATACGTAATATATGATGCTTTTAATTTTTATTAACAGTAAGTTGATATAATAGAGGTATAATATTAACTCAGTAAGTATCATTTTCATTATCAGAAACATTAAAAGTATTTTCTAAAA... |
Task1_train_4936 | With a mutation on Chromosome 2 in gene COL3A1 (collagen type III alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Ehlers-Danlos syndrome, type 4 | ATATGTAAATATACATATACATATATCTTAGACAGTAGAAATAAACATAATCTTAGAGAGTCCTTTAGAAGGATATGCTCTGTAAATAAGCAAGTAAAATAGTTTAAATACAACATTTCATGACATTTAGAAATACCTTTATATTTAGATATATTTAATATTCCTAAACGTGTAGAAATGCATTTGGATTTATAAATACACATACGTAATATATGATGCTTTTAATTTTTATTAACAGTAAGTTGATATAATAGAGGTATAATATTAACTCAGTAAGTATCATTTTCATTATCAGAAACATTAAAAGTATTTTCTAAAAG... | ATATGTAAATATACATATACATATATCTTAGACAGTAGAAATAAACATAATCTTAGAGAGTCCTTTAGAAGGATATGCTCTGTAAATAAGCAAGTAAAATAGTTTAAATACAACATTTCATGACATTTAGAAATACCTTTATATTTAGATATATTTAATATTCCTAAACGTGTAGAAATGCATTTGGATTTATAAATACACATACGTAATATATGATGCTTTTAATTTTTATTAACAGTAAGTTGATATAATAGAGGTATAATATTAACTCAGTAAGTATCATTTTCATTATCAGAAACATTAAAAGTATTTTCTAAAAG... |
Task1_train_4937 | Mutation context: Chromosome 2, Gene COL3A1 (collagen type III alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Ehlers-Danlos syndrome, type 4 | TATACATATACATATATCTTAGACAGTAGAAATAAACATAATCTTAGAGAGTCCTTTAGAAGGATATGCTCTGTAAATAAGCAAGTAAAATAGTTTAAATACAACATTTCATGACATTTAGAAATACCTTTATATTTAGATATATTTAATATTCCTAAACGTGTAGAAATGCATTTGGATTTATAAATACACATACGTAATATATGATGCTTTTAATTTTTATTAACAGTAAGTTGATATAATAGAGGTATAATATTAACTCAGTAAGTATCATTTTCATTATCAGAAACATTAAAAGTATTTTCTAAAAGGAGGTTCCT... | TATACATATACATATATCTTAGACAGTAGAAATAAACATAATCTTAGAGAGTCCTTTAGAAGGATATGCTCTGTAAATAAGCAAGTAAAATAGTTTAAATACAACATTTCATGACATTTAGAAATACCTTTATATTTAGATATATTTAATATTCCTAAACGTGTAGAAATGCATTTGGATTTATAAATACACATACGTAATATATGATGCTTTTAATTTTTATTAACAGTAAGTTGATATAATAGAGGTATAATATTAACTCAGTAAGTATCATTTTCATTATCAGAAACATTAAAAGTATTTTCTAAAAGGAGGTTCCT... |
Task1_train_4938 | A variant found in Chromosome 2 affects COL3A1 (collagen type III alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; COL3A1-related disorder | TATACATATACATATATCTTAGACAGTAGAAATAAACATAATCTTAGAGAGTCCTTTAGAAGGATATGCTCTGTAAATAAGCAAGTAAAATAGTTTAAATACAACATTTCATGACATTTAGAAATACCTTTATATTTAGATATATTTAATATTCCTAAACGTGTAGAAATGCATTTGGATTTATAAATACACATACGTAATATATGATGCTTTTAATTTTTATTAACAGTAAGTTGATATAATAGAGGTATAATATTAACTCAGTAAGTATCATTTTCATTATCAGAAACATTAAAAGTATTTTCTAAAAGGAGGTTCCT... | TATACATATACATATATCTTAGACAGTAGAAATAAACATAATCTTAGAGAGTCCTTTAGAAGGATATGCTCTGTAAATAAGCAAGTAAAATAGTTTAAATACAACATTTCATGACATTTAGAAATACCTTTATATTTAGATATATTTAATATTCCTAAACGTGTAGAAATGCATTTGGATTTATAAATACACATACGTAATATATGATGCTTTTAATTTTTATTAACAGTAAGTTGATATAATAGAGGTATAATATTAACTCAGTAAGTATCATTTTCATTATCAGAAACATTAAAAGTATTTTCTAAAAGGAGGTTCCT... |
Task1_train_4939 | The gene COL3A1 (collagen type III alpha 1 chain) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TACATATATCTTAGACAGTAGAAATAAACATAATCTTAGAGAGTCCTTTAGAAGGATATGCTCTGTAAATAAGCAAGTAAAATAGTTTAAATACAACATTTCATGACATTTAGAAATACCTTTATATTTAGATATATTTAATATTCCTAAACGTGTAGAAATGCATTTGGATTTATAAATACACATACGTAATATATGATGCTTTTAATTTTTATTAACAGTAAGTTGATATAATAGAGGTATAATATTAACTCAGTAAGTATCATTTTCATTATCAGAAACATTAAAAGTATTTTCTAAAAGGAGGTTCCTTCCAGGAA... | TACATATATCTTAGACAGTAGAAATAAACATAATCTTAGAGAGTCCTTTAGAAGGATATGCTCTGTAAATAAGCAAGTAAAATAGTTTAAATACAACATTTCATGACATTTAGAAATACCTTTATATTTAGATATATTTAATATTCCTAAACGTGTAGAAATGCATTTGGATTTATAAATACACATACGTAATATATGATGCTTTTAATTTTTATTAACAGTAAGTTGATATAATAGAGGTATAATATTAACTCAGTAAGTATCATTTTCATTATCAGAAACATTAAAAGTATTTTCTAAAAGGAGGTTCCTTCCAGGAA... |
Task1_train_4940 | This variant affects gene COL3A1 (collagen type III alpha 1 chain) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Ehlers-Danlos syndrome, type 4 | ACATATATCTTAGACAGTAGAAATAAACATAATCTTAGAGAGTCCTTTAGAAGGATATGCTCTGTAAATAAGCAAGTAAAATAGTTTAAATACAACATTTCATGACATTTAGAAATACCTTTATATTTAGATATATTTAATATTCCTAAACGTGTAGAAATGCATTTGGATTTATAAATACACATACGTAATATATGATGCTTTTAATTTTTATTAACAGTAAGTTGATATAATAGAGGTATAATATTAACTCAGTAAGTATCATTTTCATTATCAGAAACATTAAAAGTATTTTCTAAAAGGAGGTTCCTTCCAGGAAT... | ACATATATCTTAGACAGTAGAAATAAACATAATCTTAGAGAGTCCTTTAGAAGGATATGCTCTGTAAATAAGCAAGTAAAATAGTTTAAATACAACATTTCATGACATTTAGAAATACCTTTATATTTAGATATATTTAATATTCCTAAACGTGTAGAAATGCATTTGGATTTATAAATACACATACGTAATATATGATGCTTTTAATTTTTATTAACAGTAAGTTGATATAATAGAGGTATAATATTAACTCAGTAAGTATCATTTTCATTATCAGAAACATTAAAAGTATTTTCTAAAAGGAGGTTCCTTCCAGGAAT... |
Task1_train_4941 | With a mutation on Chromosome 2 in gene COL3A1 (collagen type III alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Ehlers-Danlos syndrome, type 4 | TTCTATATATATCATTTGTTGAATTCCAAAATAAAATCCTTAAAGTGCTTTTTGACTGCGGAGAAGACTCATCCATTGAATATATTATTTAACTGGAGGAGAAATAGGTGTCTCTGCCTGCCTCTTTTAATGATGAAATTGATACCACTATTTAATGAACTTGAGAAGTTATAGATACCTTCAATTCAATGGCATTCCTTCTTTCCCTCTTAATCTCCAATGGCAAATTCTTTTCACTGGCTTATGTTATTTCAGTGATTAGAAGCACCTGCATTATCTCTTTATAAGCTTATATCAAAGTGGGAAAGGTCTTCCTCATG... | TTCTATATATATCATTTGTTGAATTCCAAAATAAAATCCTTAAAGTGCTTTTTGACTGCGGAGAAGACTCATCCATTGAATATATTATTTAACTGGAGGAGAAATAGGTGTCTCTGCCTGCCTCTTTTAATGATGAAATTGATACCACTATTTAATGAACTTGAGAAGTTATAGATACCTTCAATTCAATGGCATTCCTTCTTTCCCTCTTAATCTCCAATGGCAAATTCTTTTCACTGGCTTATGTTATTTCAGTGATTAGAAGCACCTGCATTATCTCTTTATAAGCTTATATCAAAGTGGGAAAGGTCTTCCTCATG... |
Task1_train_4942 | Assess the clinical impact of this variant on gene COL3A1 (collagen type III alpha 1 chain), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Ehlers-Danlos syndrome, type 4 | TTCTATATATATCATTTGTTGAATTCCAAAATAAAATCCTTAAAGTGCTTTTTGACTGCGGAGAAGACTCATCCATTGAATATATTATTTAACTGGAGGAGAAATAGGTGTCTCTGCCTGCCTCTTTTAATGATGAAATTGATACCACTATTTAATGAACTTGAGAAGTTATAGATACCTTCAATTCAATGGCATTCCTTCTTTCCCTCTTAATCTCCAATGGCAAATTCTTTTCACTGGCTTATGTTATTTCAGTGATTAGAAGCACCTGCATTATCTCTTTATAAGCTTATATCAAAGTGGGAAAGGTCTTCCTCATG... | TTCTATATATATCATTTGTTGAATTCCAAAATAAAATCCTTAAAGTGCTTTTTGACTGCGGAGAAGACTCATCCATTGAATATATTATTTAACTGGAGGAGAAATAGGTGTCTCTGCCTGCCTCTTTTAATGATGAAATTGATACCACTATTTAATGAACTTGAGAAGTTATAGATACCTTCAATTCAATGGCATTCCTTCTTTCCCTCTTAATCTCCAATGGCAAATTCTTTTCACTGGCTTATGTTATTTCAGTGATTAGAAGCACCTGCATTATCTCTTTATAAGCTTATATCAAAGTGGGAAAGGTCTTCCTCATG... |
Task1_train_4943 | Chromosome 2 houses a mutation in gene COL3A1 (collagen type III alpha 1 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Ehlers-Danlos syndrome, type 4 | ATATCATTTGTTGAATTCCAAAATAAAATCCTTAAAGTGCTTTTTGACTGCGGAGAAGACTCATCCATTGAATATATTATTTAACTGGAGGAGAAATAGGTGTCTCTGCCTGCCTCTTTTAATGATGAAATTGATACCACTATTTAATGAACTTGAGAAGTTATAGATACCTTCAATTCAATGGCATTCCTTCTTTCCCTCTTAATCTCCAATGGCAAATTCTTTTCACTGGCTTATGTTATTTCAGTGATTAGAAGCACCTGCATTATCTCTTTATAAGCTTATATCAAAGTGGGAAAGGTCTTCCTCATGCCTTCTAC... | ATATCATTTGTTGAATTCCAAAATAAAATCCTTAAAGTGCTTTTTGACTGCGGAGAAGACTCATCCATTGAATATATTATTTAACTGGAGGAGAAATAGGTGTCTCTGCCTGCCTCTTTTAATGATGAAATTGATACCACTATTTAATGAACTTGAGAAGTTATAGATACCTTCAATTCAATGGCATTCCTTCTTTCCCTCTTAATCTCCAATGGCAAATTCTTTTCACTGGCTTATGTTATTTCAGTGATTAGAAGCACCTGCATTATCTCTTTATAAGCTTATATCAAAGTGGGAAAGGTCTTCCTCATGCCTTCTAC... |
Task1_train_4944 | This mutation is located in gene COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTATTATGTAATTCAATGGAATTAAACTTAAAAACAGAAAGTGTTTTACTACTAGATTGTGATTCTATTTGAAGGTTCATTAATATTTTTTCATTCATTATTTTTAGGGTATCAAAGGTCCAGCTGGGATACCTGGATTCCCTGGTATGAAAGGACACAGAGTAAGTAGAGTTTCTAAGTTGTTTACAAGGTATTCCACTGGGCTATGTTTACTTGCCTAACCAATTTTACTGGACAATTATGTGCCAAAAAATATGATTCTGACA... | TCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTATTATGTAATTCAATGGAATTAAACTTAAAAACAGAAAGTGTTTTACTACTAGATTGTGATTCTATTTGAAGGTTCATTAATATTTTTTCATTCATTATTTTTAGGGTATCAAAGGTCCAGCTGGGATACCTGGATTCCCTGGTATGAAAGGACACAGAGTAAGTAGAGTTTCTAAGTTGTTTACAAGGTATTCCACTGGGCTATGTTTACTTGCCTAACCAATTTTACTGGACAATTATGTGCCAAAAAATATGATTCTGACA... |
Task1_train_4945 | Gene COL3A1 (collagen type III alpha 1 chain) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TAAATTATTTAAGCTAATTTTGCAAGTAGTGTTATGAAGACCAATTAGAAAAATACCATGTAAACTTTATCAATCATTCTAGATTATTAACAGATTTTAATAATTTTGCTGGTTTTATACATTTCCTAGGGCTTCGATGGACGAAATGGAGAAAAGGGTGAAACAGGTGCTCCTGGATTAAAGGTAAATCACAACAAAAATCATATTTTCATAAGTAAATTCATTAAATATTAAAGCTACATATAAGATTCATATTGTGAGCCTTAACTTGTTTTCTGAAATTTACCTGAATTTTACCTATTAGGTGTGAATAATGGTAA... | TAAATTATTTAAGCTAATTTTGCAAGTAGTGTTATGAAGACCAATTAGAAAAATACCATGTAAACTTTATCAATCATTCTAGATTATTAACAGATTTTAATAATTTTGCTGGTTTTATACATTTCCTAGGGCTTCGATGGACGAAATGGAGAAAAGGGTGAAACAGGTGCTCCTGGATTAAAGGTAAATCACAACAAAAATCATATTTTCATAAGTAAATTCATTAAATATTAAAGCTACATATAAGATTCATATTGTGAGCCTTAACTTGTTTTCTGAAATTTACCTGAATTTTACCTATTAGGTGTGAATAATGGTAA... |
Task1_train_4946 | Here is a variant affecting COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Ehlers-Danlos syndrome, type 4 | ACTAACAGAAAATTAATATTGTTAAAATGTATATCTTTTTCTAGGCTCTATAAACTTTTCCATAATATTCTGTATTTAAAAATATATAATATTTTCTTCCTCTTTTGTAAAATAGTAACATATTTTATATGTATCTAGGGTGAAAATGGTCTTCCAGGCGAAAATGGAGCTCCTGGACCCATGGTAATTATGTTTCTTATGTATAATTTTCAGTTTTATTATTAACCTCATTGTTACCTAAAACTGGCTTTGCTCCCACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAG... | ACTAACAGAAAATTAATATTGTTAAAATGTATATCTTTTTCTAGGCTCTATAAACTTTTCCATAATATTCTGTATTTAAAAATATATAATATTTTCTTCCTCTTTTGTAAAATAGTAACATATTTTATATGTATCTAGGGTGAAAATGGTCTTCCAGGCGAAAATGGAGCTCCTGGACCCATGGTAATTATGTTTCTTATGTATAATTTTCAGTTTTATTATTAACCTCATTGTTACCTAAAACTGGCTTTGCTCCCACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAG... |
Task1_train_4947 | This alteration in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | TGTTAAAATGTATATCTTTTTCTAGGCTCTATAAACTTTTCCATAATATTCTGTATTTAAAAATATATAATATTTTCTTCCTCTTTTGTAAAATAGTAACATATTTTATATGTATCTAGGGTGAAAATGGTCTTCCAGGCGAAAATGGAGCTCCTGGACCCATGGTAATTATGTTTCTTATGTATAATTTTCAGTTTTATTATTAACCTCATTGTTACCTAAAACTGGCTTTGCTCCCACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTG... | TGTTAAAATGTATATCTTTTTCTAGGCTCTATAAACTTTTCCATAATATTCTGTATTTAAAAATATATAATATTTTCTTCCTCTTTTGTAAAATAGTAACATATTTTATATGTATCTAGGGTGAAAATGGTCTTCCAGGCGAAAATGGAGCTCCTGGACCCATGGTAATTATGTTTCTTATGTATAATTTTCAGTTTTATTATTAACCTCATTGTTACCTAAAACTGGCTTTGCTCCCACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTG... |
Task1_train_4948 | The variant affects gene COL3A1 (collagen type III alpha 1 chain), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Ehlers-Danlos syndrome, type 4 | GTATATCTTTTTCTAGGCTCTATAAACTTTTCCATAATATTCTGTATTTAAAAATATATAATATTTTCTTCCTCTTTTGTAAAATAGTAACATATTTTATATGTATCTAGGGTGAAAATGGTCTTCCAGGCGAAAATGGAGCTCCTGGACCCATGGTAATTATGTTTCTTATGTATAATTTTCAGTTTTATTATTAACCTCATTGTTACCTAAAACTGGCTTTGCTCCCACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAG... | GTATATCTTTTTCTAGGCTCTATAAACTTTTCCATAATATTCTGTATTTAAAAATATATAATATTTTCTTCCTCTTTTGTAAAATAGTAACATATTTTATATGTATCTAGGGTGAAAATGGTCTTCCAGGCGAAAATGGAGCTCCTGGACCCATGGTAATTATGTTTCTTATGTATAATTTTCAGTTTTATTATTAACCTCATTGTTACCTAAAACTGGCTTTGCTCCCACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAG... |
Task1_train_4949 | The variant affects gene COL3A1 (collagen type III alpha 1 chain), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Ehlers-Danlos syndrome, type 4 | TTTCTAGGCTCTATAAACTTTTCCATAATATTCTGTATTTAAAAATATATAATATTTTCTTCCTCTTTTGTAAAATAGTAACATATTTTATATGTATCTAGGGTGAAAATGGTCTTCCAGGCGAAAATGGAGCTCCTGGACCCATGGTAATTATGTTTCTTATGTATAATTTTCAGTTTTATTATTAACCTCATTGTTACCTAAAACTGGCTTTGCTCCCACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAG... | TTTCTAGGCTCTATAAACTTTTCCATAATATTCTGTATTTAAAAATATATAATATTTTCTTCCTCTTTTGTAAAATAGTAACATATTTTATATGTATCTAGGGTGAAAATGGTCTTCCAGGCGAAAATGGAGCTCCTGGACCCATGGTAATTATGTTTCTTATGTATAATTTTCAGTTTTATTATTAACCTCATTGTTACCTAAAACTGGCTTTGCTCCCACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAG... |
Task1_train_4950 | This variant impacts the gene COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | TTTTCCATAATATTCTGTATTTAAAAATATATAATATTTTCTTCCTCTTTTGTAAAATAGTAACATATTTTATATGTATCTAGGGTGAAAATGGTCTTCCAGGCGAAAATGGAGCTCCTGGACCCATGGTAATTATGTTTCTTATGTATAATTTTCAGTTTTATTATTAACCTCATTGTTACCTAAAACTGGCTTTGCTCCCACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAG... | TTTTCCATAATATTCTGTATTTAAAAATATATAATATTTTCTTCCTCTTTTGTAAAATAGTAACATATTTTATATGTATCTAGGGTGAAAATGGTCTTCCAGGCGAAAATGGAGCTCCTGGACCCATGGTAATTATGTTTCTTATGTATAATTTTCAGTTTTATTATTAACCTCATTGTTACCTAAAACTGGCTTTGCTCCCACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAG... |
Task1_train_4951 | Given a variant located on Chromosome 2 and affecting COL3A1 (collagen type III alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | TATATATCAGAATTGTAATAATTGACTTTAAAATACATAATTATTAAGCAGATTTTAATGTACTTGAAGAAAACTCAACTCACTTGAGTCAGAATTTTGGTCAAAATATTACTCATGACCAGCCATTCAGAATTAAAAGGATATTTGATGTAAACTTCTCTTTTTAGGGTGCTCGGGGTAATGACGGTGCTCGAGGCAGTGATGGTCAACCAGTAAGTAACTTTCTATCTCTTATGTGTTGTAGGGTAATGAGAAGTTATGGATTGTGGATTATTTAATATTTTATATATGTATATACTCTTAGGTATATATATATGCAT... | TATATATCAGAATTGTAATAATTGACTTTAAAATACATAATTATTAAGCAGATTTTAATGTACTTGAAGAAAACTCAACTCACTTGAGTCAGAATTTTGGTCAAAATATTACTCATGACCAGCCATTCAGAATTAAAAGGATATTTGATGTAAACTTCTCTTTTTAGGGTGCTCGGGGTAATGACGGTGCTCGAGGCAGTGATGGTCAACCAGTAAGTAACTTTCTATCTCTTATGTGTTGTAGGGTAATGAGAAGTTATGGATTGTGGATTATTTAATATTTTATATATGTATATACTCTTAGGTATATATATATGCAT... |
Task1_train_4952 | Gene COL3A1 (collagen type III alpha 1 chain) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | CAGTGATGGTCAACCAGTAAGTAACTTTCTATCTCTTATGTGTTGTAGGGTAATGAGAAGTTATGGATTGTGGATTATTTAATATTTTATATATGTATATACTCTTAGGTATATATATATGCATATGTATATCTCTAATATACACATTAGCATCTCTGTTGACCATTTTTACAATTTAAAAAGTGAAAAAATATTGTAGCCCCAATACTTAATATTGTATATACACTCCTGTGATTAAAACTGACACTGAGCCCATAAACAAAATCTAGGTTCTGACACTCATTCTGCTTGATCAACTGCTAACATTTGAATGGTGCTCC... | CAGTGATGGTCAACCAGTAAGTAACTTTCTATCTCTTATGTGTTGTAGGGTAATGAGAAGTTATGGATTGTGGATTATTTAATATTTTATATATGTATATACTCTTAGGTATATATATATGCATATGTATATCTCTAATATACACATTAGCATCTCTGTTGACCATTTTTACAATTTAAAAAGTGAAAAAATATTGTAGCCCCAATACTTAATATTGTATATACACTCCTGTGATTAAAACTGACACTGAGCCCATAAACAAAATCTAGGTTCTGACACTCATTCTGCTTGATCAACTGCTAACATTTGAATGGTGCTCC... |
Task1_train_4953 | Gene COL3A1 (collagen type III alpha 1 chain) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Ehlers-Danlos syndrome, type 4 | AAGTAACTTTCTATCTCTTATGTGTTGTAGGGTAATGAGAAGTTATGGATTGTGGATTATTTAATATTTTATATATGTATATACTCTTAGGTATATATATATGCATATGTATATCTCTAATATACACATTAGCATCTCTGTTGACCATTTTTACAATTTAAAAAGTGAAAAAATATTGTAGCCCCAATACTTAATATTGTATATACACTCCTGTGATTAAAACTGACACTGAGCCCATAAACAAAATCTAGGTTCTGACACTCATTCTGCTTGATCAACTGCTAACATTTGAATGGTGCTCCCAATGTTAGTTAATATCC... | AAGTAACTTTCTATCTCTTATGTGTTGTAGGGTAATGAGAAGTTATGGATTGTGGATTATTTAATATTTTATATATGTATATACTCTTAGGTATATATATATGCATATGTATATCTCTAATATACACATTAGCATCTCTGTTGACCATTTTTACAATTTAAAAAGTGAAAAAATATTGTAGCCCCAATACTTAATATTGTATATACACTCCTGTGATTAAAACTGACACTGAGCCCATAAACAAAATCTAGGTTCTGACACTCATTCTGCTTGATCAACTGCTAACATTTGAATGGTGCTCCCAATGTTAGTTAATATCC... |
Task1_train_4954 | The variant affects gene COL3A1 (collagen type III alpha 1 chain), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Ehlers-Danlos syndrome, type 4 | TCTATCTCTTATGTGTTGTAGGGTAATGAGAAGTTATGGATTGTGGATTATTTAATATTTTATATATGTATATACTCTTAGGTATATATATATGCATATGTATATCTCTAATATACACATTAGCATCTCTGTTGACCATTTTTACAATTTAAAAAGTGAAAAAATATTGTAGCCCCAATACTTAATATTGTATATACACTCCTGTGATTAAAACTGACACTGAGCCCATAAACAAAATCTAGGTTCTGACACTCATTCTGCTTGATCAACTGCTAACATTTGAATGGTGCTCCCAATGTTAGTTAATATCCTATGTAAGA... | TCTATCTCTTATGTGTTGTAGGGTAATGAGAAGTTATGGATTGTGGATTATTTAATATTTTATATATGTATATACTCTTAGGTATATATATATGCATATGTATATCTCTAATATACACATTAGCATCTCTGTTGACCATTTTTACAATTTAAAAAGTGAAAAAATATTGTAGCCCCAATACTTAATATTGTATATACACTCCTGTGATTAAAACTGACACTGAGCCCATAAACAAAATCTAGGTTCTGACACTCATTCTGCTTGATCAACTGCTAACATTTGAATGGTGCTCCCAATGTTAGTTAATATCCTATGTAAGA... |
Task1_train_4955 | A mutation found in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | TAGGGTAATGAGAAGTTATGGATTGTGGATTATTTAATATTTTATATATGTATATACTCTTAGGTATATATATATGCATATGTATATCTCTAATATACACATTAGCATCTCTGTTGACCATTTTTACAATTTAAAAAGTGAAAAAATATTGTAGCCCCAATACTTAATATTGTATATACACTCCTGTGATTAAAACTGACACTGAGCCCATAAACAAAATCTAGGTTCTGACACTCATTCTGCTTGATCAACTGCTAACATTTGAATGGTGCTCCCAATGTTAGTTAATATCCTATGTAAGACATGGCACTTTAAAGAGT... | TAGGGTAATGAGAAGTTATGGATTGTGGATTATTTAATATTTTATATATGTATATACTCTTAGGTATATATATATGCATATGTATATCTCTAATATACACATTAGCATCTCTGTTGACCATTTTTACAATTTAAAAAGTGAAAAAATATTGTAGCCCCAATACTTAATATTGTATATACACTCCTGTGATTAAAACTGACACTGAGCCCATAAACAAAATCTAGGTTCTGACACTCATTCTGCTTGATCAACTGCTAACATTTGAATGGTGCTCCCAATGTTAGTTAATATCCTATGTAAGACATGGCACTTTAAAGAGT... |
Task1_train_4956 | A mutation found in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | AGGGTAATGAGAAGTTATGGATTGTGGATTATTTAATATTTTATATATGTATATACTCTTAGGTATATATATATGCATATGTATATCTCTAATATACACATTAGCATCTCTGTTGACCATTTTTACAATTTAAAAAGTGAAAAAATATTGTAGCCCCAATACTTAATATTGTATATACACTCCTGTGATTAAAACTGACACTGAGCCCATAAACAAAATCTAGGTTCTGACACTCATTCTGCTTGATCAACTGCTAACATTTGAATGGTGCTCCCAATGTTAGTTAATATCCTATGTAAGACATGGCACTTTAAAGAGTC... | AGGGTAATGAGAAGTTATGGATTGTGGATTATTTAATATTTTATATATGTATATACTCTTAGGTATATATATATGCATATGTATATCTCTAATATACACATTAGCATCTCTGTTGACCATTTTTACAATTTAAAAAGTGAAAAAATATTGTAGCCCCAATACTTAATATTGTATATACACTCCTGTGATTAAAACTGACACTGAGCCCATAAACAAAATCTAGGTTCTGACACTCATTCTGCTTGATCAACTGCTAACATTTGAATGGTGCTCCCAATGTTAGTTAATATCCTATGTAAGACATGGCACTTTAAAGAGTC... |
Task1_train_4957 | With a mutation on Chromosome 2 in gene COL3A1 (collagen type III alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Ehlers-Danlos syndrome, type 4 | GATCAACTGCTAACATTTGAATGGTGCTCCCAATGTTAGTTAATATCCTATGTAAGACATGGCACTTTAAAGAGTCCTACAAAATGGATAAAATAGATGTTACCTCCATTTTGTAGACTGGAGTACAAAAGCCCAGGGAAAAGTAGCCTGCACTAAGTCACAGAATTCATGGCAAAGTAGGGAGAAACCAAGAATTTCTAACTTTAGATTTCACTCTTTTCTTATTTTACCACATTGTTTCTCTACATAATATCCATAAAATATGAATATCATTTTTATCTGCATAAATATCTTCTTTACTTTATATGTGCTCACTTATT... | GATCAACTGCTAACATTTGAATGGTGCTCCCAATGTTAGTTAATATCCTATGTAAGACATGGCACTTTAAAGAGTCCTACAAAATGGATAAAATAGATGTTACCTCCATTTTGTAGACTGGAGTACAAAAGCCCAGGGAAAAGTAGCCTGCACTAAGTCACAGAATTCATGGCAAAGTAGGGAGAAACCAAGAATTTCTAACTTTAGATTTCACTCTTTTCTTATTTTACCACATTGTTTCTCTACATAATATCCATAAAATATGAATATCATTTTTATCTGCATAAATATCTTCTTTACTTTATATGTGCTCACTTATT... |
Task1_train_4958 | A variant has been detected on Chromosome 2 in COL3A1 (collagen type III alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GATCAACTGCTAACATTTGAATGGTGCTCCCAATGTTAGTTAATATCCTATGTAAGACATGGCACTTTAAAGAGTCCTACAAAATGGATAAAATAGATGTTACCTCCATTTTGTAGACTGGAGTACAAAAGCCCAGGGAAAAGTAGCCTGCACTAAGTCACAGAATTCATGGCAAAGTAGGGAGAAACCAAGAATTTCTAACTTTAGATTTCACTCTTTTCTTATTTTACCACATTGTTTCTCTACATAATATCCATAAAATATGAATATCATTTTTATCTGCATAAATATCTTCTTTACTTTATATGTGCTCACTTATT... | GATCAACTGCTAACATTTGAATGGTGCTCCCAATGTTAGTTAATATCCTATGTAAGACATGGCACTTTAAAGAGTCCTACAAAATGGATAAAATAGATGTTACCTCCATTTTGTAGACTGGAGTACAAAAGCCCAGGGAAAAGTAGCCTGCACTAAGTCACAGAATTCATGGCAAAGTAGGGAGAAACCAAGAATTTCTAACTTTAGATTTCACTCTTTTCTTATTTTACCACATTGTTTCTCTACATAATATCCATAAAATATGAATATCATTTTTATCTGCATAAATATCTTCTTTACTTTATATGTGCTCACTTATT... |
Task1_train_4959 | A genetic alteration is present in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Ehlers-Danlos syndrome, type 4 | CTCCCAATGTTAGTTAATATCCTATGTAAGACATGGCACTTTAAAGAGTCCTACAAAATGGATAAAATAGATGTTACCTCCATTTTGTAGACTGGAGTACAAAAGCCCAGGGAAAAGTAGCCTGCACTAAGTCACAGAATTCATGGCAAAGTAGGGAGAAACCAAGAATTTCTAACTTTAGATTTCACTCTTTTCTTATTTTACCACATTGTTTCTCTACATAATATCCATAAAATATGAATATCATTTTTATCTGCATAAATATCTTCTTTACTTTATATGTGCTCACTTATTTACTAGTATGTCAGCTTTCATTTAGT... | CTCCCAATGTTAGTTAATATCCTATGTAAGACATGGCACTTTAAAGAGTCCTACAAAATGGATAAAATAGATGTTACCTCCATTTTGTAGACTGGAGTACAAAAGCCCAGGGAAAAGTAGCCTGCACTAAGTCACAGAATTCATGGCAAAGTAGGGAGAAACCAAGAATTTCTAACTTTAGATTTCACTCTTTTCTTATTTTACCACATTGTTTCTCTACATAATATCCATAAAATATGAATATCATTTTTATCTGCATAAATATCTTCTTTACTTTATATGTGCTCACTTATTTACTAGTATGTCAGCTTTCATTTAGT... |
Task1_train_4960 | A variant affecting Chromosome 2, within the gene COL3A1 (collagen type III alpha 1 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Ehlers-Danlos syndrome, type 4 | CTCCCAATGTTAGTTAATATCCTATGTAAGACATGGCACTTTAAAGAGTCCTACAAAATGGATAAAATAGATGTTACCTCCATTTTGTAGACTGGAGTACAAAAGCCCAGGGAAAAGTAGCCTGCACTAAGTCACAGAATTCATGGCAAAGTAGGGAGAAACCAAGAATTTCTAACTTTAGATTTCACTCTTTTCTTATTTTACCACATTGTTTCTCTACATAATATCCATAAAATATGAATATCATTTTTATCTGCATAAATATCTTCTTTACTTTATATGTGCTCACTTATTTACTAGTATGTCAGCTTTCATTTAGT... | CTCCCAATGTTAGTTAATATCCTATGTAAGACATGGCACTTTAAAGAGTCCTACAAAATGGATAAAATAGATGTTACCTCCATTTTGTAGACTGGAGTACAAAAGCCCAGGGAAAAGTAGCCTGCACTAAGTCACAGAATTCATGGCAAAGTAGGGAGAAACCAAGAATTTCTAACTTTAGATTTCACTCTTTTCTTATTTTACCACATTGTTTCTCTACATAATATCCATAAAATATGAATATCATTTTTATCTGCATAAATATCTTCTTTACTTTATATGTGCTCACTTATTTACTAGTATGTCAGCTTTCATTTAGT... |
Task1_train_4961 | A mutation in COL3A1 (collagen type III alpha 1 chain), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Ehlers-Danlos syndrome, type 4 | GAAACCAAGAATTTCTAACTTTAGATTTCACTCTTTTCTTATTTTACCACATTGTTTCTCTACATAATATCCATAAAATATGAATATCATTTTTATCTGCATAAATATCTTCTTTACTTTATATGTGCTCACTTATTTACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAAAGCATTAGATTG... | GAAACCAAGAATTTCTAACTTTAGATTTCACTCTTTTCTTATTTTACCACATTGTTTCTCTACATAATATCCATAAAATATGAATATCATTTTTATCTGCATAAATATCTTCTTTACTTTATATGTGCTCACTTATTTACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAAAGCATTAGATTG... |
Task1_train_4962 | This is a variant in COL3A1 (collagen type III alpha 1 chain), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TAGATTGCTTCTTGCAACTGATTTTTTTAATCAGTCAAATGGATAGCTTTTATCTATACATGTCTTTAAAGCCCTATTCTTGATTCTAAAAGAGGTGTTGTCCCTAGTATTCAACTATCTTGATATTTCTTCTGCTACCTTCTTTTTTTCCCCAGACTCTTTCTAGGAAACTGATAATGCAATCACACACACATAGTTACATTTTTCTCTGCCTTTACGATTAATGATTCCTTGCTTTACCTGCAGTATAGAGTCCCACTACTCCAACTTTTGGGAGATGTGTTTAAACAGGACTGAAGGGTGAAGTGGCTAAGTGAGTA... | TAGATTGCTTCTTGCAACTGATTTTTTTAATCAGTCAAATGGATAGCTTTTATCTATACATGTCTTTAAAGCCCTATTCTTGATTCTAAAAGAGGTGTTGTCCCTAGTATTCAACTATCTTGATATTTCTTCTGCTACCTTCTTTTTTTCCCCAGACTCTTTCTAGGAAACTGATAATGCAATCACACACACATAGTTACATTTTTCTCTGCCTTTACGATTAATGATTCCTTGCTTTACCTGCAGTATAGAGTCCCACTACTCCAACTTTTGGGAGATGTGTTTAAACAGGACTGAAGGGTGAAGTGGCTAAGTGAGTA... |
Task1_train_4963 | A variant has been detected on Chromosome 2 in COL3A1 (collagen type III alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Ehlers-Danlos syndrome, type 4 | TGATTTTTTTAATCAGTCAAATGGATAGCTTTTATCTATACATGTCTTTAAAGCCCTATTCTTGATTCTAAAAGAGGTGTTGTCCCTAGTATTCAACTATCTTGATATTTCTTCTGCTACCTTCTTTTTTTCCCCAGACTCTTTCTAGGAAACTGATAATGCAATCACACACACATAGTTACATTTTTCTCTGCCTTTACGATTAATGATTCCTTGCTTTACCTGCAGTATAGAGTCCCACTACTCCAACTTTTGGGAGATGTGTTTAAACAGGACTGAAGGGTGAAGTGGCTAAGTGAGTAGAAGTGGTAAGAGAAACT... | TGATTTTTTTAATCAGTCAAATGGATAGCTTTTATCTATACATGTCTTTAAAGCCCTATTCTTGATTCTAAAAGAGGTGTTGTCCCTAGTATTCAACTATCTTGATATTTCTTCTGCTACCTTCTTTTTTTCCCCAGACTCTTTCTAGGAAACTGATAATGCAATCACACACACATAGTTACATTTTTCTCTGCCTTTACGATTAATGATTCCTTGCTTTACCTGCAGTATAGAGTCCCACTACTCCAACTTTTGGGAGATGTGTTTAAACAGGACTGAAGGGTGAAGTGGCTAAGTGAGTAGAAGTGGTAAGAGAAACT... |
Task1_train_4964 | Chromosome 2 houses a mutation in gene COL3A1 (collagen type III alpha 1 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TGATTTTTTTAATCAGTCAAATGGATAGCTTTTATCTATACATGTCTTTAAAGCCCTATTCTTGATTCTAAAAGAGGTGTTGTCCCTAGTATTCAACTATCTTGATATTTCTTCTGCTACCTTCTTTTTTTCCCCAGACTCTTTCTAGGAAACTGATAATGCAATCACACACACATAGTTACATTTTTCTCTGCCTTTACGATTAATGATTCCTTGCTTTACCTGCAGTATAGAGTCCCACTACTCCAACTTTTGGGAGATGTGTTTAAACAGGACTGAAGGGTGAAGTGGCTAAGTGAGTAGAAGTGGTAAGAGAAACT... | TGATTTTTTTAATCAGTCAAATGGATAGCTTTTATCTATACATGTCTTTAAAGCCCTATTCTTGATTCTAAAAGAGGTGTTGTCCCTAGTATTCAACTATCTTGATATTTCTTCTGCTACCTTCTTTTTTTCCCCAGACTCTTTCTAGGAAACTGATAATGCAATCACACACACATAGTTACATTTTTCTCTGCCTTTACGATTAATGATTCCTTGCTTTACCTGCAGTATAGAGTCCCACTACTCCAACTTTTGGGAGATGTGTTTAAACAGGACTGAAGGGTGAAGTGGCTAAGTGAGTAGAAGTGGTAAGAGAAACT... |
Task1_train_4965 | A genetic alteration is present in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Ehlers-Danlos syndrome, type 4 | AGCTTTTATCTATACATGTCTTTAAAGCCCTATTCTTGATTCTAAAAGAGGTGTTGTCCCTAGTATTCAACTATCTTGATATTTCTTCTGCTACCTTCTTTTTTTCCCCAGACTCTTTCTAGGAAACTGATAATGCAATCACACACACATAGTTACATTTTTCTCTGCCTTTACGATTAATGATTCCTTGCTTTACCTGCAGTATAGAGTCCCACTACTCCAACTTTTGGGAGATGTGTTTAAACAGGACTGAAGGGTGAAGTGGCTAAGTGAGTAGAAGTGGTAAGAGAAACTGACTACACAAGGTTTTACCATTAGGG... | AGCTTTTATCTATACATGTCTTTAAAGCCCTATTCTTGATTCTAAAAGAGGTGTTGTCCCTAGTATTCAACTATCTTGATATTTCTTCTGCTACCTTCTTTTTTTCCCCAGACTCTTTCTAGGAAACTGATAATGCAATCACACACACATAGTTACATTTTTCTCTGCCTTTACGATTAATGATTCCTTGCTTTACCTGCAGTATAGAGTCCCACTACTCCAACTTTTGGGAGATGTGTTTAAACAGGACTGAAGGGTGAAGTGGCTAAGTGAGTAGAAGTGGTAAGAGAAACTGACTACACAAGGTTTTACCATTAGGG... |
Task1_train_4966 | A mutation in COL3A1 (collagen type III alpha 1 chain), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Ehlers-Danlos syndrome, type 4 | GCTTTTATCTATACATGTCTTTAAAGCCCTATTCTTGATTCTAAAAGAGGTGTTGTCCCTAGTATTCAACTATCTTGATATTTCTTCTGCTACCTTCTTTTTTTCCCCAGACTCTTTCTAGGAAACTGATAATGCAATCACACACACATAGTTACATTTTTCTCTGCCTTTACGATTAATGATTCCTTGCTTTACCTGCAGTATAGAGTCCCACTACTCCAACTTTTGGGAGATGTGTTTAAACAGGACTGAAGGGTGAAGTGGCTAAGTGAGTAGAAGTGGTAAGAGAAACTGACTACACAAGGTTTTACCATTAGGGT... | GCTTTTATCTATACATGTCTTTAAAGCCCTATTCTTGATTCTAAAAGAGGTGTTGTCCCTAGTATTCAACTATCTTGATATTTCTTCTGCTACCTTCTTTTTTTCCCCAGACTCTTTCTAGGAAACTGATAATGCAATCACACACACATAGTTACATTTTTCTCTGCCTTTACGATTAATGATTCCTTGCTTTACCTGCAGTATAGAGTCCCACTACTCCAACTTTTGGGAGATGTGTTTAAACAGGACTGAAGGGTGAAGTGGCTAAGTGAGTAGAAGTGGTAAGAGAAACTGACTACACAAGGTTTTACCATTAGGGT... |
Task1_train_4967 | A genomic change on Chromosome 2 affects COL3A1 (collagen type III alpha 1 chain). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Ehlers-Danlos syndrome, type 4 | AAAATGATAGTTTTTGACTGTTGCACTATTCCAGAATTCATGATTTTTTATGTTTATATAAAAGAATAGAGGATAGACTAGTTTTCTGATGCTTTCAAGAATGTGCCCCAAGCTAATCACCAATCATAAAAATTCAGAGAAGAACCAAATTCAAAATCTCTTCTATTTATGTATCATTTAATAATTTATACGAAGTACATATTATCTCTAATTTATTTAGATAATGATGATTCTTTTGACCACATTTCATATGTTGTGTTATAGTTGGAGGATTCACTTAATCTCTACAAAGCATAACACTCATCGATACATTTATTTTC... | AAAATGATAGTTTTTGACTGTTGCACTATTCCAGAATTCATGATTTTTTATGTTTATATAAAAGAATAGAGGATAGACTAGTTTTCTGATGCTTTCAAGAATGTGCCCCAAGCTAATCACCAATCATAAAAATTCAGAGAAGAACCAAATTCAAAATCTCTTCTATTTATGTATCATTTAATAATTTATACGAAGTACATATTATCTCTAATTTATTTAGATAATGATGATTCTTTTGACCACATTTCATATGTTGTGTTATAGTTGGAGGATTCACTTAATCTCTACAAAGCATAACACTCATCGATACATTTATTTTC... |
Task1_train_4968 | Here is a variant affecting COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Ehlers-Danlos syndrome, type 4 | TTTTATGTTTATATAAAAGAATAGAGGATAGACTAGTTTTCTGATGCTTTCAAGAATGTGCCCCAAGCTAATCACCAATCATAAAAATTCAGAGAAGAACCAAATTCAAAATCTCTTCTATTTATGTATCATTTAATAATTTATACGAAGTACATATTATCTCTAATTTATTTAGATAATGATGATTCTTTTGACCACATTTCATATGTTGTGTTATAGTTGGAGGATTCACTTAATCTCTACAAAGCATAACACTCATCGATACATTTATTTTCACACAAACAACTTCAAATATATACGAACTATTTGCATTACTATTA... | TTTTATGTTTATATAAAAGAATAGAGGATAGACTAGTTTTCTGATGCTTTCAAGAATGTGCCCCAAGCTAATCACCAATCATAAAAATTCAGAGAAGAACCAAATTCAAAATCTCTTCTATTTATGTATCATTTAATAATTTATACGAAGTACATATTATCTCTAATTTATTTAGATAATGATGATTCTTTTGACCACATTTCATATGTTGTGTTATAGTTGGAGGATTCACTTAATCTCTACAAAGCATAACACTCATCGATACATTTATTTTCACACAAACAACTTCAAATATATACGAACTATTTGCATTACTATTA... |
Task1_train_4969 | A variant was discovered on Chromosome 2, affecting COL3A1 (collagen type III alpha 1 chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Ehlers-Danlos syndrome, type 4 | AGCTGTCCCCACTCCTCAGCCTTATCTCATCCACACATTACTGGCTTCTTTTGCATTTTGCATGACAATAGATTTGTGATATTTAAGTGAGATATTCATAAAAGAACATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACTGAAAGGTATAGTTTAATTCCATCAACAAAAAATTAATAGCAAA... | AGCTGTCCCCACTCCTCAGCCTTATCTCATCCACACATTACTGGCTTCTTTTGCATTTTGCATGACAATAGATTTGTGATATTTAAGTGAGATATTCATAAAAGAACATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACTGAAAGGTATAGTTTAATTCCATCAACAAAAAATTAATAGCAAA... |
Task1_train_4970 | The following genetic variant occurs in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AGCTGTCCCCACTCCTCAGCCTTATCTCATCCACACATTACTGGCTTCTTTTGCATTTTGCATGACAATAGATTTGTGATATTTAAGTGAGATATTCATAAAAGAACATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACTGAAAGGTATAGTTTAATTCCATCAACAAAAAATTAATAGCAAA... | AGCTGTCCCCACTCCTCAGCCTTATCTCATCCACACATTACTGGCTTCTTTTGCATTTTGCATGACAATAGATTTGTGATATTTAAGTGAGATATTCATAAAAGAACATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACTGAAAGGTATAGTTTAATTCCATCAACAAAAAATTAATAGCAAA... |
Task1_train_4971 | A mutation on Chromosome 2 affecting COL3A1 (collagen type III alpha 1 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Ehlers-Danlos syndrome, type 4 | ATCCACACATTACTGGCTTCTTTTGCATTTTGCATGACAATAGATTTGTGATATTTAAGTGAGATATTCATAAAAGAACATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACTGAAAGGTATAGTTTAATTCCATCAACAAAAAATTAATAGCAAAATTTTGCTCCTGTTCAGTTGAATTTATA... | ATCCACACATTACTGGCTTCTTTTGCATTTTGCATGACAATAGATTTGTGATATTTAAGTGAGATATTCATAAAAGAACATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACTGAAAGGTATAGTTTAATTCCATCAACAAAAAATTAATAGCAAAATTTTGCTCCTGTTCAGTTGAATTTATA... |
Task1_train_4972 | A mutation on Chromosome 2 affecting COL3A1 (collagen type III alpha 1 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Ehlers-Danlos syndrome, type 4 | ATTACTGGCTTCTTTTGCATTTTGCATGACAATAGATTTGTGATATTTAAGTGAGATATTCATAAAAGAACATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACTGAAAGGTATAGTTTAATTCCATCAACAAAAAATTAATAGCAAAATTTTGCTCCTGTTCAGTTGAATTTATATTGACTTC... | ATTACTGGCTTCTTTTGCATTTTGCATGACAATAGATTTGTGATATTTAAGTGAGATATTCATAAAAGAACATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACTGAAAGGTATAGTTTAATTCCATCAACAAAAAATTAATAGCAAAATTTTGCTCCTGTTCAGTTGAATTTATATTGACTTC... |
Task1_train_4973 | Given this context: Chromosome 2, gene COL3A1 (collagen type III alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TTACTGGCTTCTTTTGCATTTTGCATGACAATAGATTTGTGATATTTAAGTGAGATATTCATAAAAGAACATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACTGAAAGGTATAGTTTAATTCCATCAACAAAAAATTAATAGCAAAATTTTGCTCCTGTTCAGTTGAATTTATATTGACTTCA... | TTACTGGCTTCTTTTGCATTTTGCATGACAATAGATTTGTGATATTTAAGTGAGATATTCATAAAAGAACATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACTGAAAGGTATAGTTTAATTCCATCAACAAAAAATTAATAGCAAAATTTTGCTCCTGTTCAGTTGAATTTATATTGACTTCA... |
Task1_train_4974 | This sequence variant lies in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | ATATTGACTTCACTCTTGTCTTATAACTTATAACTGAATTATGTGTTACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATTAGAAAGTAAACAGGTAAAAACTTTGAACTAAATTCAGTCATAATTTCTTTATTTTACCATCTTTTTTTTTTTTCAGGGTGAGGCTGGTATTCCAGGTGTTCCA... | ATATTGACTTCACTCTTGTCTTATAACTTATAACTGAATTATGTGTTACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATTAGAAAGTAAACAGGTAAAAACTTTGAACTAAATTCAGTCATAATTTCTTTATTTTACCATCTTTTTTTTTTTTCAGGGTGAGGCTGGTATTCCAGGTGTTCCA... |
Task1_train_4975 | Here’s a variant in COL3A1 (collagen type III alpha 1 chain) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; COL3A1-related disorder | ATATTGACTTCACTCTTGTCTTATAACTTATAACTGAATTATGTGTTACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATTAGAAAGTAAACAGGTAAAAACTTTGAACTAAATTCAGTCATAATTTCTTTATTTTACCATCTTTTTTTTTTTTCAGGGTGAGGCTGGTATTCCAGGTGTTCCA... | ATATTGACTTCACTCTTGTCTTATAACTTATAACTGAATTATGTGTTACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATTAGAAAGTAAACAGGTAAAAACTTTGAACTAAATTCAGTCATAATTTCTTTATTTTACCATCTTTTTTTTTTTTCAGGGTGAGGCTGGTATTCCAGGTGTTCCA... |
Task1_train_4976 | Consider this mutation in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Ehlers-Danlos syndrome, type 4 | ATATTGACTTCACTCTTGTCTTATAACTTATAACTGAATTATGTGTTACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATTAGAAAGTAAACAGGTAAAAACTTTGAACTAAATTCAGTCATAATTTCTTTATTTTACCATCTTTTTTTTTTTTCAGGGTGAGGCTGGTATTCCAGGTGTTCCA... | ATATTGACTTCACTCTTGTCTTATAACTTATAACTGAATTATGTGTTACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATTAGAAAGTAAACAGGTAAAAACTTTGAACTAAATTCAGTCATAATTTCTTTATTTTACCATCTTTTTTTTTTTTCAGGGTGAGGCTGGTATTCCAGGTGTTCCA... |
Task1_train_4977 | Mutation context: Chromosome 2, Gene COL3A1 (collagen type III alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Ehlers-Danlos syndrome, type 4 | ATATTGACTTCACTCTTGTCTTATAACTTATAACTGAATTATGTGTTACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATTAGAAAGTAAACAGGTAAAAACTTTGAACTAAATTCAGTCATAATTTCTTTATTTTACCATCTTTTTTTTTTTTCAGGGTGAGGCTGGTATTCCAGGTGTTCCA... | ATATTGACTTCACTCTTGTCTTATAACTTATAACTGAATTATGTGTTACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATTAGAAAGTAAACAGGTAAAAACTTTGAACTAAATTCAGTCATAATTTCTTTATTTTACCATCTTTTTTTTTTTTCAGGGTGAGGCTGGTATTCCAGGTGTTCCA... |
Task1_train_4978 | A genetic alteration is present in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Ehlers-Danlos syndrome, type 4 | AATTTCTCATTCATGAAAACCTAAATATCTGAAGAATATATATTAGAGTTAAGAAAAATTCCTAATATAATGCATCCTCTGTTCAACAACTTTCCTGGCTTTGTAACTAAAGCCACTTACTTACCCTCTATGAGAATCCTTTACTTATCTGTTAATTGGAAAGCATTTATCTGAGCATCGTTGCAAGAGTACAGTAAACTAAAATGCCTGAAAAGTCTTTGAAAACTCTAAGGTTACATCAAATATGATTTCATAGCATTAAGATATTTGATTTTAGCTGCACATAATTATATTTTTAAGCACAGTGAATACTGTTTTAT... | AATTTCTCATTCATGAAAACCTAAATATCTGAAGAATATATATTAGAGTTAAGAAAAATTCCTAATATAATGCATCCTCTGTTCAACAACTTTCCTGGCTTTGTAACTAAAGCCACTTACTTACCCTCTATGAGAATCCTTTACTTATCTGTTAATTGGAAAGCATTTATCTGAGCATCGTTGCAAGAGTACAGTAAACTAAAATGCCTGAAAAGTCTTTGAAAACTCTAAGGTTACATCAAATATGATTTCATAGCATTAAGATATTTGATTTTAGCTGCACATAATTATATTTTTAAGCACAGTGAATACTGTTTTAT... |
Task1_train_4979 | Gene COL3A1 (collagen type III alpha 1 chain), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Ehlers-Danlos syndrome, type 4 | CTCTATGAGAATCCTTTACTTATCTGTTAATTGGAAAGCATTTATCTGAGCATCGTTGCAAGAGTACAGTAAACTAAAATGCCTGAAAAGTCTTTGAAAACTCTAAGGTTACATCAAATATGATTTCATAGCATTAAGATATTTGATTTTAGCTGCACATAATTATATTTTTAAGCACAGTGAATACTGTTTTATTAAGCATGTGATGTTCACAAAGTTGCTTTAAAATTTTTTCAATATGGCAATCCAAGCTAAGATAACTGATTTTATGTATAAATGTTTCAGCAACACACGAACCCTTTTTAAAAGTTCAAATGACG... | CTCTATGAGAATCCTTTACTTATCTGTTAATTGGAAAGCATTTATCTGAGCATCGTTGCAAGAGTACAGTAAACTAAAATGCCTGAAAAGTCTTTGAAAACTCTAAGGTTACATCAAATATGATTTCATAGCATTAAGATATTTGATTTTAGCTGCACATAATTATATTTTTAAGCACAGTGAATACTGTTTTATTAAGCATGTGATGTTCACAAAGTTGCTTTAAAATTTTTTCAATATGGCAATCCAAGCTAAGATAACTGATTTTATGTATAAATGTTTCAGCAACACACGAACCCTTTTTAAAAGTTCAAATGACG... |
Task1_train_4980 | A variant was discovered in gene COL3A1 (collagen type III alpha 1 chain), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Ehlers-Danlos syndrome, type 4 | AATTGGAAAGCATTTATCTGAGCATCGTTGCAAGAGTACAGTAAACTAAAATGCCTGAAAAGTCTTTGAAAACTCTAAGGTTACATCAAATATGATTTCATAGCATTAAGATATTTGATTTTAGCTGCACATAATTATATTTTTAAGCACAGTGAATACTGTTTTATTAAGCATGTGATGTTCACAAAGTTGCTTTAAAATTTTTTCAATATGGCAATCCAAGCTAAGATAACTGATTTTATGTATAAATGTTTCAGCAACACACGAACCCTTTTTAAAAGTTCAAATGACGTCCTCTCTTTGTAACCAAAATATTGTTG... | AATTGGAAAGCATTTATCTGAGCATCGTTGCAAGAGTACAGTAAACTAAAATGCCTGAAAAGTCTTTGAAAACTCTAAGGTTACATCAAATATGATTTCATAGCATTAAGATATTTGATTTTAGCTGCACATAATTATATTTTTAAGCACAGTGAATACTGTTTTATTAAGCATGTGATGTTCACAAAGTTGCTTTAAAATTTTTTCAATATGGCAATCCAAGCTAAGATAACTGATTTTATGTATAAATGTTTCAGCAACACACGAACCCTTTTTAAAAGTTCAAATGACGTCCTCTCTTTGTAACCAAAATATTGTTG... |
Task1_train_4981 | A variant has been detected on Chromosome 2 in COL3A1 (collagen type III alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Ehlers-Danlos syndrome, type 4 | CTGAGCATCGTTGCAAGAGTACAGTAAACTAAAATGCCTGAAAAGTCTTTGAAAACTCTAAGGTTACATCAAATATGATTTCATAGCATTAAGATATTTGATTTTAGCTGCACATAATTATATTTTTAAGCACAGTGAATACTGTTTTATTAAGCATGTGATGTTCACAAAGTTGCTTTAAAATTTTTTCAATATGGCAATCCAAGCTAAGATAACTGATTTTATGTATAAATGTTTCAGCAACACACGAACCCTTTTTAAAAGTTCAAATGACGTCCTCTCTTTGTAACCAAAATATTGTTGCTATCTAGGTTAGTGAA... | CTGAGCATCGTTGCAAGAGTACAGTAAACTAAAATGCCTGAAAAGTCTTTGAAAACTCTAAGGTTACATCAAATATGATTTCATAGCATTAAGATATTTGATTTTAGCTGCACATAATTATATTTTTAAGCACAGTGAATACTGTTTTATTAAGCATGTGATGTTCACAAAGTTGCTTTAAAATTTTTTCAATATGGCAATCCAAGCTAAGATAACTGATTTTATGTATAAATGTTTCAGCAACACACGAACCCTTTTTAAAAGTTCAAATGACGTCCTCTCTTTGTAACCAAAATATTGTTGCTATCTAGGTTAGTGAA... |
Task1_train_4982 | A variant affecting Chromosome 2, within the gene COL3A1 (collagen type III alpha 1 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Ehlers-Danlos syndrome, type 4 | CTGAGCATCGTTGCAAGAGTACAGTAAACTAAAATGCCTGAAAAGTCTTTGAAAACTCTAAGGTTACATCAAATATGATTTCATAGCATTAAGATATTTGATTTTAGCTGCACATAATTATATTTTTAAGCACAGTGAATACTGTTTTATTAAGCATGTGATGTTCACAAAGTTGCTTTAAAATTTTTTCAATATGGCAATCCAAGCTAAGATAACTGATTTTATGTATAAATGTTTCAGCAACACACGAACCCTTTTTAAAAGTTCAAATGACGTCCTCTCTTTGTAACCAAAATATTGTTGCTATCTAGGTTAGTGAA... | CTGAGCATCGTTGCAAGAGTACAGTAAACTAAAATGCCTGAAAAGTCTTTGAAAACTCTAAGGTTACATCAAATATGATTTCATAGCATTAAGATATTTGATTTTAGCTGCACATAATTATATTTTTAAGCACAGTGAATACTGTTTTATTAAGCATGTGATGTTCACAAAGTTGCTTTAAAATTTTTTCAATATGGCAATCCAAGCTAAGATAACTGATTTTATGTATAAATGTTTCAGCAACACACGAACCCTTTTTAAAAGTTCAAATGACGTCCTCTCTTTGTAACCAAAATATTGTTGCTATCTAGGTTAGTGAA... |
Task1_train_4983 | Here’s a variant in COL3A1 (collagen type III alpha 1 chain) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TGAGCATCGTTGCAAGAGTACAGTAAACTAAAATGCCTGAAAAGTCTTTGAAAACTCTAAGGTTACATCAAATATGATTTCATAGCATTAAGATATTTGATTTTAGCTGCACATAATTATATTTTTAAGCACAGTGAATACTGTTTTATTAAGCATGTGATGTTCACAAAGTTGCTTTAAAATTTTTTCAATATGGCAATCCAAGCTAAGATAACTGATTTTATGTATAAATGTTTCAGCAACACACGAACCCTTTTTAAAAGTTCAAATGACGTCCTCTCTTTGTAACCAAAATATTGTTGCTATCTAGGTTAGTGAAG... | TGAGCATCGTTGCAAGAGTACAGTAAACTAAAATGCCTGAAAAGTCTTTGAAAACTCTAAGGTTACATCAAATATGATTTCATAGCATTAAGATATTTGATTTTAGCTGCACATAATTATATTTTTAAGCACAGTGAATACTGTTTTATTAAGCATGTGATGTTCACAAAGTTGCTTTAAAATTTTTTCAATATGGCAATCCAAGCTAAGATAACTGATTTTATGTATAAATGTTTCAGCAACACACGAACCCTTTTTAAAAGTTCAAATGACGTCCTCTCTTTGTAACCAAAATATTGTTGCTATCTAGGTTAGTGAAG... |
Task1_train_4984 | Here is a genetic alteration in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TGAGCATCGTTGCAAGAGTACAGTAAACTAAAATGCCTGAAAAGTCTTTGAAAACTCTAAGGTTACATCAAATATGATTTCATAGCATTAAGATATTTGATTTTAGCTGCACATAATTATATTTTTAAGCACAGTGAATACTGTTTTATTAAGCATGTGATGTTCACAAAGTTGCTTTAAAATTTTTTCAATATGGCAATCCAAGCTAAGATAACTGATTTTATGTATAAATGTTTCAGCAACACACGAACCCTTTTTAAAAGTTCAAATGACGTCCTCTCTTTGTAACCAAAATATTGTTGCTATCTAGGTTAGTGAAG... | TGAGCATCGTTGCAAGAGTACAGTAAACTAAAATGCCTGAAAAGTCTTTGAAAACTCTAAGGTTACATCAAATATGATTTCATAGCATTAAGATATTTGATTTTAGCTGCACATAATTATATTTTTAAGCACAGTGAATACTGTTTTATTAAGCATGTGATGTTCACAAAGTTGCTTTAAAATTTTTTCAATATGGCAATCCAAGCTAAGATAACTGATTTTATGTATAAATGTTTCAGCAACACACGAACCCTTTTTAAAAGTTCAAATGACGTCCTCTCTTTGTAACCAAAATATTGTTGCTATCTAGGTTAGTGAAG... |
Task1_train_4985 | This gene mutation involves COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TTCACTACTTAGGGTCCTGCTGGAGAGCGTGGTGCTCCAGGCCCTGCAGGGCCCAGAGGAGCTGCTGGAGAACCTGGCAGAGATGGCGTCCCTGGAGGTCCAGGAATGAGGGTACAGAGAAACATTTGTTTGAATGACACTTTAATTTAGACAGAAGAAAGGCAAGACAAATGAAGACAGATCAAAAGCAACTTAAATCAATCAGATTACATATTTTGTAAGGCACCAAACAAAACAAAATTCTTTTAAGTAAACTTAAGCCGAGATAGTTCAAGGAGAAGAGAAGATAGAACACTTGCCTTAGATACTTTATAGACAGG... | TTCACTACTTAGGGTCCTGCTGGAGAGCGTGGTGCTCCAGGCCCTGCAGGGCCCAGAGGAGCTGCTGGAGAACCTGGCAGAGATGGCGTCCCTGGAGGTCCAGGAATGAGGGTACAGAGAAACATTTGTTTGAATGACACTTTAATTTAGACAGAAGAAAGGCAAGACAAATGAAGACAGATCAAAAGCAACTTAAATCAATCAGATTACATATTTTGTAAGGCACCAAACAAAACAAAATTCTTTTAAGTAAACTTAAGCCGAGATAGTTCAAGGAGAAGAGAAGATAGAACACTTGCCTTAGATACTTTATAGACAGG... |
Task1_train_4986 | Gene COL3A1 (collagen type III alpha 1 chain) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Ehlers-Danlos syndrome, type 4 | TTAGGGTCCTGCTGGAGAGCGTGGTGCTCCAGGCCCTGCAGGGCCCAGAGGAGCTGCTGGAGAACCTGGCAGAGATGGCGTCCCTGGAGGTCCAGGAATGAGGGTACAGAGAAACATTTGTTTGAATGACACTTTAATTTAGACAGAAGAAAGGCAAGACAAATGAAGACAGATCAAAAGCAACTTAAATCAATCAGATTACATATTTTGTAAGGCACCAAACAAAACAAAATTCTTTTAAGTAAACTTAAGCCGAGATAGTTCAAGGAGAAGAGAAGATAGAACACTTGCCTTAGATACTTTATAGACAGGAAAAAAGA... | TTAGGGTCCTGCTGGAGAGCGTGGTGCTCCAGGCCCTGCAGGGCCCAGAGGAGCTGCTGGAGAACCTGGCAGAGATGGCGTCCCTGGAGGTCCAGGAATGAGGGTACAGAGAAACATTTGTTTGAATGACACTTTAATTTAGACAGAAGAAAGGCAAGACAAATGAAGACAGATCAAAAGCAACTTAAATCAATCAGATTACATATTTTGTAAGGCACCAAACAAAACAAAATTCTTTTAAGTAAACTTAAGCCGAGATAGTTCAAGGAGAAGAGAAGATAGAACACTTGCCTTAGATACTTTATAGACAGGAAAAAAGA... |
Task1_train_4987 | Given this context: Chromosome 2, gene COL3A1 (collagen type III alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TGCTGGAGAGCGTGGTGCTCCAGGCCCTGCAGGGCCCAGAGGAGCTGCTGGAGAACCTGGCAGAGATGGCGTCCCTGGAGGTCCAGGAATGAGGGTACAGAGAAACATTTGTTTGAATGACACTTTAATTTAGACAGAAGAAAGGCAAGACAAATGAAGACAGATCAAAAGCAACTTAAATCAATCAGATTACATATTTTGTAAGGCACCAAACAAAACAAAATTCTTTTAAGTAAACTTAAGCCGAGATAGTTCAAGGAGAAGAGAAGATAGAACACTTGCCTTAGATACTTTATAGACAGGAAAAAAGATGTGCAAAT... | TGCTGGAGAGCGTGGTGCTCCAGGCCCTGCAGGGCCCAGAGGAGCTGCTGGAGAACCTGGCAGAGATGGCGTCCCTGGAGGTCCAGGAATGAGGGTACAGAGAAACATTTGTTTGAATGACACTTTAATTTAGACAGAAGAAAGGCAAGACAAATGAAGACAGATCAAAAGCAACTTAAATCAATCAGATTACATATTTTGTAAGGCACCAAACAAAACAAAATTCTTTTAAGTAAACTTAAGCCGAGATAGTTCAAGGAGAAGAGAAGATAGAACACTTGCCTTAGATACTTTATAGACAGGAAAAAAGATGTGCAAAT... |
Task1_train_4988 | A variant affecting Chromosome 2, within the gene COL3A1 (collagen type III alpha 1 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Ehlers-Danlos syndrome, type 4 | TGCTGGAGAGCGTGGTGCTCCAGGCCCTGCAGGGCCCAGAGGAGCTGCTGGAGAACCTGGCAGAGATGGCGTCCCTGGAGGTCCAGGAATGAGGGTACAGAGAAACATTTGTTTGAATGACACTTTAATTTAGACAGAAGAAAGGCAAGACAAATGAAGACAGATCAAAAGCAACTTAAATCAATCAGATTACATATTTTGTAAGGCACCAAACAAAACAAAATTCTTTTAAGTAAACTTAAGCCGAGATAGTTCAAGGAGAAGAGAAGATAGAACACTTGCCTTAGATACTTTATAGACAGGAAAAAAGATGTGCAAAT... | TGCTGGAGAGCGTGGTGCTCCAGGCCCTGCAGGGCCCAGAGGAGCTGCTGGAGAACCTGGCAGAGATGGCGTCCCTGGAGGTCCAGGAATGAGGGTACAGAGAAACATTTGTTTGAATGACACTTTAATTTAGACAGAAGAAAGGCAAGACAAATGAAGACAGATCAAAAGCAACTTAAATCAATCAGATTACATATTTTGTAAGGCACCAAACAAAACAAAATTCTTTTAAGTAAACTTAAGCCGAGATAGTTCAAGGAGAAGAGAAGATAGAACACTTGCCTTAGATACTTTATAGACAGGAAAAAAGATGTGCAAAT... |
Task1_train_4989 | This gene mutation involves COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Ehlers-Danlos syndrome, type 4 | GCTGGAGAGCGTGGTGCTCCAGGCCCTGCAGGGCCCAGAGGAGCTGCTGGAGAACCTGGCAGAGATGGCGTCCCTGGAGGTCCAGGAATGAGGGTACAGAGAAACATTTGTTTGAATGACACTTTAATTTAGACAGAAGAAAGGCAAGACAAATGAAGACAGATCAAAAGCAACTTAAATCAATCAGATTACATATTTTGTAAGGCACCAAACAAAACAAAATTCTTTTAAGTAAACTTAAGCCGAGATAGTTCAAGGAGAAGAGAAGATAGAACACTTGCCTTAGATACTTTATAGACAGGAAAAAAGATGTGCAAATC... | GCTGGAGAGCGTGGTGCTCCAGGCCCTGCAGGGCCCAGAGGAGCTGCTGGAGAACCTGGCAGAGATGGCGTCCCTGGAGGTCCAGGAATGAGGGTACAGAGAAACATTTGTTTGAATGACACTTTAATTTAGACAGAAGAAAGGCAAGACAAATGAAGACAGATCAAAAGCAACTTAAATCAATCAGATTACATATTTTGTAAGGCACCAAACAAAACAAAATTCTTTTAAGTAAACTTAAGCCGAGATAGTTCAAGGAGAAGAGAAGATAGAACACTTGCCTTAGATACTTTATAGACAGGAAAAAAGATGTGCAAATC... |
Task1_train_4990 | The variant affects gene COL3A1 (collagen type III alpha 1 chain), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Ehlers-Danlos syndrome, type 4 | AAATGGAATGTATATGTTGGCCTATCCTTGAGTGTGTGTGTGTGTGTGTGTGTATATATATATATGTATATGTATATCTATATATATACACACACACACACACACACACATACTATATATATAGCATGCTTTAATCTTCTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAATATTTGACTGGA... | AAATGGAATGTATATGTTGGCCTATCCTTGAGTGTGTGTGTGTGTGTGTGTGTATATATATATATGTATATGTATATCTATATATATACACACACACACACACACACACATACTATATATATAGCATGCTTTAATCTTCTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAATATTTGACTGGA... |
Task1_train_4991 | This sequence variant lies in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Ehlers-Danlos syndrome, type 4 | GTGTGTGTATATATATATATGTATATGTATATCTATATATATACACACACACACACACACACACATACTATATATATAGCATGCTTTAATCTTCTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAATATTTGACTGGAAGGCTTTTATTTTCCATATGGAGTAAAGAAATGGTCAAAACTCAG... | GTGTGTGTATATATATATATGTATATGTATATCTATATATATACACACACACACACACACACACATACTATATATATAGCATGCTTTAATCTTCTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAATATTTGACTGGAAGGCTTTTATTTTCCATATGGAGTAAAGAAATGGTCAAAACTCAG... |
Task1_train_4992 | A variant affecting Chromosome 2, within the gene COL3A1 (collagen type III alpha 1 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Ehlers-Danlos syndrome, type 4 | ATGTAGGAAGGGAGCTAAATATATAATTGGTTATGGTTGTATGTGTGTGTATGGAGCAGGCAGATAAAAAATATGAAACAGGCTGGGTGCGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTCTAGGCCAGCCTTGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCCAGGAGGCTGAGGCAAGAGAATCACTAGAACCCGGGGGGCAGAGGCTACAGTGAGCCAAGATTGCG... | ATGTAGGAAGGGAGCTAAATATATAATTGGTTATGGTTGTATGTGTGTGTATGGAGCAGGCAGATAAAAAATATGAAACAGGCTGGGTGCGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTCTAGGCCAGCCTTGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCCAGGAGGCTGAGGCAAGAGAATCACTAGAACCCGGGGGGCAGAGGCTACAGTGAGCCAAGATTGCG... |
Task1_train_4993 | The gene COL3A1 (collagen type III alpha 1 chain) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Ehlers-Danlos syndrome, type 4 | AGGGAGCTAAATATATAATTGGTTATGGTTGTATGTGTGTGTATGGAGCAGGCAGATAAAAAATATGAAACAGGCTGGGTGCGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTCTAGGCCAGCCTTGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCCAGGAGGCTGAGGCAAGAGAATCACTAGAACCCGGGGGGCAGAGGCTACAGTGAGCCAAGATTGCGCCACTGCA... | AGGGAGCTAAATATATAATTGGTTATGGTTGTATGTGTGTGTATGGAGCAGGCAGATAAAAAATATGAAACAGGCTGGGTGCGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTCTAGGCCAGCCTTGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCCAGGAGGCTGAGGCAAGAGAATCACTAGAACCCGGGGGGCAGAGGCTACAGTGAGCCAAGATTGCGCCACTGCA... |
Task1_train_4994 | This variant lies on Chromosome 2 and affects the gene COL3A1 (collagen type III alpha 1 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Ehlers-Danlos syndrome, type 4 | GGGAGCTAAATATATAATTGGTTATGGTTGTATGTGTGTGTATGGAGCAGGCAGATAAAAAATATGAAACAGGCTGGGTGCGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTCTAGGCCAGCCTTGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCCAGGAGGCTGAGGCAAGAGAATCACTAGAACCCGGGGGGCAGAGGCTACAGTGAGCCAAGATTGCGCCACTGCAC... | GGGAGCTAAATATATAATTGGTTATGGTTGTATGTGTGTGTATGGAGCAGGCAGATAAAAAATATGAAACAGGCTGGGTGCGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTCTAGGCCAGCCTTGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCCAGGAGGCTGAGGCAAGAGAATCACTAGAACCCGGGGGGCAGAGGCTACAGTGAGCCAAGATTGCGCCACTGCAC... |
Task1_train_4995 | A mutation found in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TGTGTGTATGGAGCAGGCAGATAAAAAATATGAAACAGGCTGGGTGCGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTCTAGGCCAGCCTTGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCCAGGAGGCTGAGGCAAGAGAATCACTAGAACCCGGGGGGCAGAGGCTACAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAGTCTCA... | TGTGTGTATGGAGCAGGCAGATAAAAAATATGAAACAGGCTGGGTGCGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTCTAGGCCAGCCTTGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCCAGGAGGCTGAGGCAAGAGAATCACTAGAACCCGGGGGGCAGAGGCTACAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAGTCTCA... |
Task1_train_4996 | This mutation is located in gene COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TTATTTCTAGCCTTCTAATAGATGCGTTCATCTCCAACCTTCTGACTTCTCTCTGTAATCTGTATTATTTCTACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGT... | TTATTTCTAGCCTTCTAATAGATGCGTTCATCTCCAACCTTCTGACTTCTCTCTGTAATCTGTATTATTTCTACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGT... |
Task1_train_4997 | An alteration has been detected in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Ehlers-Danlos syndrome | GATGCGTTCATCTCCAACCTTCTGACTTCTCTCTGTAATCTGTATTATTTCTACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTC... | GATGCGTTCATCTCCAACCTTCTGACTTCTCTCTGTAATCTGTATTATTTCTACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTC... |
Task1_train_4998 | With a mutation on Chromosome 2 in gene COL3A1 (collagen type III alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Ehlers-Danlos syndrome, type 4 | GATGCGTTCATCTCCAACCTTCTGACTTCTCTCTGTAATCTGTATTATTTCTACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTC... | GATGCGTTCATCTCCAACCTTCTGACTTCTCTCTGTAATCTGTATTATTTCTACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTC... |
Task1_train_4999 | Chromosome 2 houses a mutation in gene COL3A1 (collagen type III alpha 1 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TCATCTCCAACCTTCTGACTTCTCTCTGTAATCTGTATTATTTCTACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCC... | TCATCTCCAACCTTCTGACTTCTCTCTGTAATCTGTATTATTTCTACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCC... |
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