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_5000 | 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 | TCATCTCCAACCTTCTGACTTCTCTCTGTAATCTGTATTATTTCTACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCC... | TCATCTCCAACCTTCTGACTTCTCTCTGTAATCTGTATTATTTCTACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCC... |
Task1_train_5001 | 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 | AACCTTCTGACTTCTCTCTGTAATCTGTATTATTTCTACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTT... | AACCTTCTGACTTCTCTCTGTAATCTGTATTATTTCTACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTT... |
Task1_train_5002 | 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 | ACTTCTCTCTGTAATCTGTATTATTTCTACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATC... | ACTTCTCTCTGTAATCTGTATTATTTCTACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATC... |
Task1_train_5003 | 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 | CTTCTCTCTGTAATCTGTATTATTTCTACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCA... | CTTCTCTCTGTAATCTGTATTATTTCTACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCA... |
Task1_train_5004 | 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; Ehlers-Danlos syndrome, type 4 | GTAATCTGTATTATTTCTACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTA... | GTAATCTGTATTATTTCTACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTA... |
Task1_train_5005 | This variant affects the gene COL3A1 (collagen type III alpha 1 chain) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Ehlers-Danlos syndrome, type 4 | ATTATTTCTACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGC... | ATTATTTCTACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGC... |
Task1_train_5006 | Given this variant in gene COL3A1 (collagen type III alpha 1 chain) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Ehlers-Danlos syndrome, type 4 | TACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCC... | TACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCC... |
Task1_train_5007 | 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; Familial thoracic aortic aneurysm and aortic dissection | ACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCT... | ACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCT... |
Task1_train_5008 | 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; not provided | ACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCT... | ACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCT... |
Task1_train_5009 | 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 | AACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAAT... | AACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAAT... |
Task1_train_5010 | 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 | ACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATG... | ACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATG... |
Task1_train_5011 | 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 | GTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTA... | GTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTA... |
Task1_train_5012 | A sequence alteration has been identified in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; not provided | TAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCAC... | TAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCAC... |
Task1_train_5013 | 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 | AGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTA... | AGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTA... |
Task1_train_5014 | 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 | AGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTA... | AGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTA... |
Task1_train_5015 | Consider a variant on Chromosome 2 in gene COL3A1 (collagen type III alpha 1 chain). Determine its clinical classification and disease relevance. | Pathogenic; Ehlers-Danlos syndrome, type 4 | AGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTA... | AGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTA... |
Task1_train_5016 | 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; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | AGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTA... | AGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTA... |
Task1_train_5017 | 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 | GGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAA... | GGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAA... |
Task1_train_5018 | 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; not provided | CTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATT... | CTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATT... |
Task1_train_5019 | 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 | CTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATGTCACGGCATATC... | CTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATGTCACGGCATATC... |
Task1_train_5020 | Here is a mutation in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Ehlers-Danlos syndrome, type 4 | CCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATGTCACGGCATATCTGACTGTC... | CCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATGTCACGGCATATCTGACTGTC... |
Task1_train_5021 | Consider a variant on Chromosome 2 in gene COL3A1 (collagen type III alpha 1 chain). Determine its clinical classification and disease relevance. | Pathogenic; Ehlers-Danlos syndrome, type 4 | CATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATGTCACGGCATATCTGACTGTCA... | CATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATGTCACGGCATATCTGACTGTCA... |
Task1_train_5022 | The gene COL3A1 (collagen type III alpha 1 chain) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATGTCACGGCATATCTGACTGTCAAATTTTTT... | TACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATGTCACGGCATATCTGACTGTCAAATTTTTT... |
Task1_train_5023 | 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 | ACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATGTCACGGCATATCTGACTGTCAAATTTTTTT... | ACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATGTCACGGCATATCTGACTGTCAAATTTTTTT... |
Task1_train_5024 | 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 | TTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATGTCACGGCATATCTGACTGTCAAATTTTTTTGTGTCCCTAATAGATTATAATTTATC... | TTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATGTCACGGCATATCTGACTGTCAAATTTTTTTGTGTCCCTAATAGATTATAATTTATC... |
Task1_train_5025 | Consider a variant on Chromosome 2 in gene COL3A1 (collagen type III alpha 1 chain). Determine its clinical classification and disease relevance. | Pathogenic; Ehlers-Danlos syndrome, type 4 | TTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATGTCACGGCATATCTGACTGTCAAATTTTTTTGTGTCCCTAATAGATTATAATTTATC... | TTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATGTCACGGCATATCTGACTGTCAAATTTTTTTGTGTCCCTAATAGATTATAATTTATC... |
Task1_train_5026 | Here is a mutation in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATGTCACGGCATATCTGACTGTCAAATTTTTTTGTGTCCCTAATAGATTATAATTTATCT... | TGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATGTCACGGCATATCTGACTGTCAAATTTTTTTGTGTCCCTAATAGATTATAATTTATCT... |
Task1_train_5027 | 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; Familial thoracic aortic aneurysm and aortic dissection | TAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATGTCACGGCATATCTGACTGTCAAATTTTTTTGTGTCCCTAATAGATTATAATTTATCTGAAGCTTA... | TAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATGTCACGGCATATCTGACTGTCAAATTTTTTTGTGTCCCTAATAGATTATAATTTATCTGAAGCTTA... |
Task1_train_5028 | 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, type 4 | TAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATGTCACGGCATATCTGACTGTCAAATTTTTTTGTGTCCCTAATAGATTATAATTTATCTGAAGCTTA... | TAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATGTCACGGCATATCTGACTGTCAAATTTTTTTGTGTCCCTAATAGATTATAATTTATCTGAAGCTTA... |
Task1_train_5029 | 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; Familial thoracic aortic aneurysm and aortic dissection | TAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATGTCACGGCATATCTGACTGTCAAATTTTTTTGTGTCCCTAATAGATTATAATTTATCTGAAGCTTA... | TAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATGTCACGGCATATCTGACTGTCAAATTTTTTTGTGTCCCTAATAGATTATAATTTATCTGAAGCTTA... |
Task1_train_5030 | Consider a variant on Chromosome 2 in gene COL3A1 (collagen type III alpha 1 chain). Determine its clinical classification and disease relevance. | Pathogenic; Ehlers-Danlos syndrome, type 4 | AGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATGTCACGGCATATCTGACTGTCAAATTTTTTTGTGTCCCTAATAGATTATAATTTATCTGAAGCTTAA... | AGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATGTCACGGCATATCTGACTGTCAAATTTTTTTGTGTCCCTAATAGATTATAATTTATCTGAAGCTTAA... |
Task1_train_5031 | 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; Ehlers-Danlos syndrome, type 4 | TCAAATTTTTTTGTGTCCCTAATAGATTATAATTTATCTGAAGCTTAACTTGTGATTCTGTCTTTCATCTGGAAATAAAATTTTAGGCAATGTTAATAGGTAGGCATATCTTCCATGTCCGTTCCAGAGCACATTAATAAGTTATTTAAAAGAATTAATGAAACTCAAATAATTCTATTTGGTTACACTTATTTTTATTATAACATAAATCCATATAGCCAAGTCTATCCTGCCATGCTGGTCAATACATTTTTACGTGTAGCAATTGAAAGAACAGAGAGAGATGAAAATGGGTTTGTAAAATATGATTATCACGTATG... | TCAAATTTTTTTGTGTCCCTAATAGATTATAATTTATCTGAAGCTTAACTTGTGATTCTGTCTTTCATCTGGAAATAAAATTTTAGGCAATGTTAATAGGTAGGCATATCTTCCATGTCCGTTCCAGAGCACATTAATAAGTTATTTAAAAGAATTAATGAAACTCAAATAATTCTATTTGGTTACACTTATTTTTATTATAACATAAATCCATATAGCCAAGTCTATCCTGCCATGCTGGTCAATACATTTTTACGTGTAGCAATTGAAAGAACAGAGAGAGATGAAAATGGGTTTGTAAAATATGATTATCACGTATG... |
Task1_train_5032 | 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 | CAAATTTTTTTGTGTCCCTAATAGATTATAATTTATCTGAAGCTTAACTTGTGATTCTGTCTTTCATCTGGAAATAAAATTTTAGGCAATGTTAATAGGTAGGCATATCTTCCATGTCCGTTCCAGAGCACATTAATAAGTTATTTAAAAGAATTAATGAAACTCAAATAATTCTATTTGGTTACACTTATTTTTATTATAACATAAATCCATATAGCCAAGTCTATCCTGCCATGCTGGTCAATACATTTTTACGTGTAGCAATTGAAAGAACAGAGAGAGATGAAAATGGGTTTGTAAAATATGATTATCACGTATGT... | CAAATTTTTTTGTGTCCCTAATAGATTATAATTTATCTGAAGCTTAACTTGTGATTCTGTCTTTCATCTGGAAATAAAATTTTAGGCAATGTTAATAGGTAGGCATATCTTCCATGTCCGTTCCAGAGCACATTAATAAGTTATTTAAAAGAATTAATGAAACTCAAATAATTCTATTTGGTTACACTTATTTTTATTATAACATAAATCCATATAGCCAAGTCTATCCTGCCATGCTGGTCAATACATTTTTACGTGTAGCAATTGAAAGAACAGAGAGAGATGAAAATGGGTTTGTAAAATATGATTATCACGTATGT... |
Task1_train_5033 | 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; not provided | AACTTGTGATTCTGTCTTTCATCTGGAAATAAAATTTTAGGCAATGTTAATAGGTAGGCATATCTTCCATGTCCGTTCCAGAGCACATTAATAAGTTATTTAAAAGAATTAATGAAACTCAAATAATTCTATTTGGTTACACTTATTTTTATTATAACATAAATCCATATAGCCAAGTCTATCCTGCCATGCTGGTCAATACATTTTTACGTGTAGCAATTGAAAGAACAGAGAGAGATGAAAATGGGTTTGTAAAATATGATTATCACGTATGTGTCACTGGATTTTGAGTGGCACAACGTTTCTACCCCTACAAGACC... | AACTTGTGATTCTGTCTTTCATCTGGAAATAAAATTTTAGGCAATGTTAATAGGTAGGCATATCTTCCATGTCCGTTCCAGAGCACATTAATAAGTTATTTAAAAGAATTAATGAAACTCAAATAATTCTATTTGGTTACACTTATTTTTATTATAACATAAATCCATATAGCCAAGTCTATCCTGCCATGCTGGTCAATACATTTTTACGTGTAGCAATTGAAAGAACAGAGAGAGATGAAAATGGGTTTGTAAAATATGATTATCACGTATGTGTCACTGGATTTTGAGTGGCACAACGTTTCTACCCCTACAAGACC... |
Task1_train_5034 | 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 | GTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCACCTAGGTTTAAAAAATGCATTTGATTTCCTTCTGATCATTTATTATTTCTCACTTATTTTCAGGGTGCTGCTGGTCCTCCTGGGCCACCTGGTGCTGCTGGTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAAGGTGTTGACTTGTTTTCTCTTAATTGTTCAATAAATCAGTCATTGTAGGTTTTAAAAAAAGCAACACTCCTGGAAAGTAATCGACTGTATTT... | GTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCACCTAGGTTTAAAAAATGCATTTGATTTCCTTCTGATCATTTATTATTTCTCACTTATTTTCAGGGTGCTGCTGGTCCTCCTGGGCCACCTGGTGCTGCTGGTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAAGGTGTTGACTTGTTTTCTCTTAATTGTTCAATAAATCAGTCATTGTAGGTTTTAAAAAAAGCAACACTCCTGGAAAGTAATCGACTGTATTT... |
Task1_train_5035 | 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 | GTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCACCTAGGTTTAAAAAATGCATTTGATTTCCTTCTGATCATTTATTATTTCTCACTTATTTTCAGGGTGCTGCTGGTCCTCCTGGGCCACCTGGTGCTGCTGGTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAAGGTGTTGACTTGTTTTCTCTTAATTGTTCAATAAATCAGTCATTGTAGGTTTTAAAAAAAGCAACACTCCTGGAAAGTAATCGACTGTATTT... | GTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCACCTAGGTTTAAAAAATGCATTTGATTTCCTTCTGATCATTTATTATTTCTCACTTATTTTCAGGGTGCTGCTGGTCCTCCTGGGCCACCTGGTGCTGCTGGTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAAGGTGTTGACTTGTTTTCTCTTAATTGTTCAATAAATCAGTCATTGTAGGTTTTAAAAAAAGCAACACTCCTGGAAAGTAATCGACTGTATTT... |
Task1_train_5036 | 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; Familial thoracic aortic aneurysm and aortic dissection | TGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCACCTAGGTTTAAAAAATGCATTTGATTTCCTTCTGATCATTTATTATTTCTCACTTATTTTCAGGGTGCTGCTGGTCCTCCTGGGCCACCTGGTGCTGCTGGTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAAGGTGTTGACTTGTTTTCTCTTAATTGTTCAATAAATCAGTCATTGTAGGTTTTAAAAAAAGCAACACTCCTGGAAAGTAATCGACTGTATTTT... | TGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCACCTAGGTTTAAAAAATGCATTTGATTTCCTTCTGATCATTTATTATTTCTCACTTATTTTCAGGGTGCTGCTGGTCCTCCTGGGCCACCTGGTGCTGCTGGTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAAGGTGTTGACTTGTTTTCTCTTAATTGTTCAATAAATCAGTCATTGTAGGTTTTAAAAAAAGCAACACTCCTGGAAAGTAATCGACTGTATTTT... |
Task1_train_5037 | The gene COL3A1 (collagen type III alpha 1 chain) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Ehlers-Danlos syndrome, type 4 | GTCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCACCTAGGTTTAAAAAATGCATTTGATTTCCTTCTGATCATTTATTATTTCTCACTTATTTTCAGGGTGCTGCTGGTCCTCCTGGGCCACCTGGTGCTGCTGGTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAAGGTGTTGACTTGTTTTCTCTTAATTGTTCAATAAATCAGTCATTGTAGGTTTTAAAAAAAGCAACACTCCTGGAAAGTAATCGACTGTATTTTCAAAATTA... | GTCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCACCTAGGTTTAAAAAATGCATTTGATTTCCTTCTGATCATTTATTATTTCTCACTTATTTTCAGGGTGCTGCTGGTCCTCCTGGGCCACCTGGTGCTGCTGGTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAAGGTGTTGACTTGTTTTCTCTTAATTGTTCAATAAATCAGTCATTGTAGGTTTTAAAAAAAGCAACACTCCTGGAAAGTAATCGACTGTATTTTCAAAATTA... |
Task1_train_5038 | Located on Chromosome 2, this mutation impacts COL3A1 (collagen type III alpha 1 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCACCTAGGTTTAAAAAATGCATTTGATTTCCTTCTGATCATTTATTATTTCTCACTTATTTTCAGGGTGCTGCTGGTCCTCCTGGGCCACCTGGTGCTGCTGGTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAAGGTGTTGACTTGTTTTCTCTTAATTGTTCAATAAATCAGTCATTGTAGGTTTTAAAAAAAGCAACACTCCTGGAAAGTAATCGACTGTATTTTCAAAATTAA... | TCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCACCTAGGTTTAAAAAATGCATTTGATTTCCTTCTGATCATTTATTATTTCTCACTTATTTTCAGGGTGCTGCTGGTCCTCCTGGGCCACCTGGTGCTGCTGGTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAAGGTGTTGACTTGTTTTCTCTTAATTGTTCAATAAATCAGTCATTGTAGGTTTTAAAAAAAGCAACACTCCTGGAAAGTAATCGACTGTATTTTCAAAATTAA... |
Task1_train_5039 | 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 | ATTCACCTAGGTTTAAAAAATGCATTTGATTTCCTTCTGATCATTTATTATTTCTCACTTATTTTCAGGGTGCTGCTGGTCCTCCTGGGCCACCTGGTGCTGCTGGTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAAGGTGTTGACTTGTTTTCTCTTAATTGTTCAATAAATCAGTCATTGTAGGTTTTAAAAAAAGCAACACTCCTGGAAAGTAATCGACTGTATTTTCAAAATTAATGTTATCATTTTATAGTAAGTGAAATTTAAGATGGATTCCTAA... | ATTCACCTAGGTTTAAAAAATGCATTTGATTTCCTTCTGATCATTTATTATTTCTCACTTATTTTCAGGGTGCTGCTGGTCCTCCTGGGCCACCTGGTGCTGCTGGTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAAGGTGTTGACTTGTTTTCTCTTAATTGTTCAATAAATCAGTCATTGTAGGTTTTAAAAAAAGCAACACTCCTGGAAAGTAATCGACTGTATTTTCAAAATTAATGTTATCATTTTATAGTAAGTGAAATTTAAGATGGATTCCTAA... |
Task1_train_5040 | The variant affects gene LOC126806446, COL3A1 (P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:189866210-189867409| 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; Familial thoracic aortic aneurysm and aortic dissection | GGTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAAGGTGTTGACTTGTTTTCTCTTAATTGTTCAATAAATCAGTCATTGTAGGTTTTAAAAAAAGCAACACTCCTGGAAAGTAATCGACTGTATTTTCAAAATTAATGTTATCATTTTATAGTAAGTGAAATTTAAGATGGATTCCTAAAGCAACAATGAATTAGAACACCCAATATATATCCCTACAAATCCTGAGAGTTACTCCTCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATT... | GGTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAAGGTGTTGACTTGTTTTCTCTTAATTGTTCAATAAATCAGTCATTGTAGGTTTTAAAAAAAGCAACACTCCTGGAAAGTAATCGACTGTATTTTCAAAATTAATGTTATCATTTTATAGTAAGTGAAATTTAAGATGGATTCCTAAAGCAACAATGAATTAGAACACCCAATATATATCCCTACAAATCCTGAGAGTTACTCCTCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATT... |
Task1_train_5041 | Given a variant located on Chromosome 2 and affecting LOC126806446, COL3A1 (P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:189866210-189867409| collagen type III alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Ehlers-Danlos syndrome, type 4 | GGTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAAGGTGTTGACTTGTTTTCTCTTAATTGTTCAATAAATCAGTCATTGTAGGTTTTAAAAAAAGCAACACTCCTGGAAAGTAATCGACTGTATTTTCAAAATTAATGTTATCATTTTATAGTAAGTGAAATTTAAGATGGATTCCTAAAGCAACAATGAATTAGAACACCCAATATATATCCCTACAAATCCTGAGAGTTACTCCTCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATT... | GGTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAAGGTGTTGACTTGTTTTCTCTTAATTGTTCAATAAATCAGTCATTGTAGGTTTTAAAAAAAGCAACACTCCTGGAAAGTAATCGACTGTATTTTCAAAATTAATGTTATCATTTTATAGTAAGTGAAATTTAAGATGGATTCCTAAAGCAACAATGAATTAGAACACCCAATATATATCCCTACAAATCCTGAGAGTTACTCCTCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATT... |
Task1_train_5042 | With a mutation on Chromosome 2 in gene COL3A1, LOC126806446 (collagen type III alpha 1 chain| P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:189866210-189867409), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Ehlers-Danlos syndrome, type 4 | GTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAAGGTGTTGACTTGTTTTCTCTTAATTGTTCAATAAATCAGTCATTGTAGGTTTTAAAAAAAGCAACACTCCTGGAAAGTAATCGACTGTATTTTCAAAATTAATGTTATCATTTTATAGTAAGTGAAATTTAAGATGGATTCCTAAAGCAACAATGAATTAGAACACCCAATATATATCCCTACAAATCCTGAGAGTTACTCCTCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTG... | GTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAAGGTGTTGACTTGTTTTCTCTTAATTGTTCAATAAATCAGTCATTGTAGGTTTTAAAAAAAGCAACACTCCTGGAAAGTAATCGACTGTATTTTCAAAATTAATGTTATCATTTTATAGTAAGTGAAATTTAAGATGGATTCCTAAAGCAACAATGAATTAGAACACCCAATATATATCCCTACAAATCCTGAGAGTTACTCCTCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTG... |
Task1_train_5043 | The gene COL3A1, LOC126806446 (collagen type III alpha 1 chain| P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:189866210-189867409) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Ehlers-Danlos syndrome, dominant type 4 | AAAAATTGTATAGTATTTAGCAACAAAAAGGAATGAACAATTGATGCTGTACACACAGCAAATTATACAAACCTCAAGGACAACATACTCAGTGAAGAAAATTCAGTCACCAAGGGATACATACTGCATGATTCCATTCCTACAATATTTGCAAAATAACTTCCTTGTAGAGATGTAGAACAGATTAGTGGTTGCTAGCAGTTAAGAATGAGAAAGAGAGAGATGGATGTGGCTATGGAGACATGACACAAGGGAGTCTTATGGTGATTGCACATTTGAGTATCTTGATTGAGGTGGTAGTCAGGCACATCTACACATGG... | AAAAATTGTATAGTATTTAGCAACAAAAAGGAATGAACAATTGATGCTGTACACACAGCAAATTATACAAACCTCAAGGACAACATACTCAGTGAAGAAAATTCAGTCACCAAGGGATACATACTGCATGATTCCATTCCTACAATATTTGCAAAATAACTTCCTTGTAGAGATGTAGAACAGATTAGTGGTTGCTAGCAGTTAAGAATGAGAAAGAGAGAGATGGATGTGGCTATGGAGACATGACACAAGGGAGTCTTATGGTGATTGCACATTTGAGTATCTTGATTGAGGTGGTAGTCAGGCACATCTACACATGG... |
Task1_train_5044 | Gene COL3A1, LOC126806446 (collagen type III alpha 1 chain| P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:189866210-189867409) 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, NONVASCULAR VARIANT | TATAGTATTTAGCAACAAAAAGGAATGAACAATTGATGCTGTACACACAGCAAATTATACAAACCTCAAGGACAACATACTCAGTGAAGAAAATTCAGTCACCAAGGGATACATACTGCATGATTCCATTCCTACAATATTTGCAAAATAACTTCCTTGTAGAGATGTAGAACAGATTAGTGGTTGCTAGCAGTTAAGAATGAGAAAGAGAGAGATGGATGTGGCTATGGAGACATGACACAAGGGAGTCTTATGGTGATTGCACATTTGAGTATCTTGATTGAGGTGGTAGTCAGGCACATCTACACATGGGATAAAAT... | TATAGTATTTAGCAACAAAAAGGAATGAACAATTGATGCTGTACACACAGCAAATTATACAAACCTCAAGGACAACATACTCAGTGAAGAAAATTCAGTCACCAAGGGATACATACTGCATGATTCCATTCCTACAATATTTGCAAAATAACTTCCTTGTAGAGATGTAGAACAGATTAGTGGTTGCTAGCAGTTAAGAATGAGAAAGAGAGAGATGGATGTGGCTATGGAGACATGACACAAGGGAGTCTTATGGTGATTGCACATTTGAGTATCTTGATTGAGGTGGTAGTCAGGCACATCTACACATGGGATAAAAT... |
Task1_train_5045 | Here’s a variant in COL3A1, LOC126806446 (collagen type III alpha 1 chain| P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:189866210-189867409) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Ehlers-Danlos syndrome, type 4 | AACAATTGATGCTGTACACACAGCAAATTATACAAACCTCAAGGACAACATACTCAGTGAAGAAAATTCAGTCACCAAGGGATACATACTGCATGATTCCATTCCTACAATATTTGCAAAATAACTTCCTTGTAGAGATGTAGAACAGATTAGTGGTTGCTAGCAGTTAAGAATGAGAAAGAGAGAGATGGATGTGGCTATGGAGACATGACACAAGGGAGTCTTATGGTGATTGCACATTTGAGTATCTTGATTGAGGTGGTAGTCAGGCACATCTACACATGGGATAAAATTCTATAGAGCTACATATACACACACAT... | AACAATTGATGCTGTACACACAGCAAATTATACAAACCTCAAGGACAACATACTCAGTGAAGAAAATTCAGTCACCAAGGGATACATACTGCATGATTCCATTCCTACAATATTTGCAAAATAACTTCCTTGTAGAGATGTAGAACAGATTAGTGGTTGCTAGCAGTTAAGAATGAGAAAGAGAGAGATGGATGTGGCTATGGAGACATGACACAAGGGAGTCTTATGGTGATTGCACATTTGAGTATCTTGATTGAGGTGGTAGTCAGGCACATCTACACATGGGATAAAATTCTATAGAGCTACATATACACACACAT... |
Task1_train_5046 | 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 | AAAAGAGTGCTCAATACTTCAGTTTTGTAATATAAGTAAAACTACTATTTGAAAATTTCAAGTTGAAAAATTTAATATGTACAATGAGACTTTGAGAAAACATTTAAATTATCAAGCAATTGAATAAAGAAATGTACTTTAATTTAAAAAGACATTACTGTAAGATCTTACATGACATCCTATTTATCTTCTACAATGGAGATAAAGATAAATGAATCAATAAACTATTGCTGAATCCTATTTTCTCCCAGAGTTATCCCCAAAGAGGCTTGTGTTTACTGAGCTCTGCAGTATTTACACATTGAGAGAAAAGCATAGCA... | AAAAGAGTGCTCAATACTTCAGTTTTGTAATATAAGTAAAACTACTATTTGAAAATTTCAAGTTGAAAAATTTAATATGTACAATGAGACTTTGAGAAAACATTTAAATTATCAAGCAATTGAATAAAGAAATGTACTTTAATTTAAAAAGACATTACTGTAAGATCTTACATGACATCCTATTTATCTTCTACAATGGAGATAAAGATAAATGAATCAATAAACTATTGCTGAATCCTATTTTCTCCCAGAGTTATCCCCAAAGAGGCTTGTGTTTACTGAGCTCTGCAGTATTTACACATTGAGAGAAAAGCATAGCA... |
Task1_train_5047 | This sequence change occurs on Chromosome 2, altering COL3A1 (collagen type III alpha 1 chain). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | TCAGTTTTGTAATATAAGTAAAACTACTATTTGAAAATTTCAAGTTGAAAAATTTAATATGTACAATGAGACTTTGAGAAAACATTTAAATTATCAAGCAATTGAATAAAGAAATGTACTTTAATTTAAAAAGACATTACTGTAAGATCTTACATGACATCCTATTTATCTTCTACAATGGAGATAAAGATAAATGAATCAATAAACTATTGCTGAATCCTATTTTCTCCCAGAGTTATCCCCAAAGAGGCTTGTGTTTACTGAGCTCTGCAGTATTTACACATTGAGAGAAAAGCATAGCATTCAAGCCATAAAAATTT... | TCAGTTTTGTAATATAAGTAAAACTACTATTTGAAAATTTCAAGTTGAAAAATTTAATATGTACAATGAGACTTTGAGAAAACATTTAAATTATCAAGCAATTGAATAAAGAAATGTACTTTAATTTAAAAAGACATTACTGTAAGATCTTACATGACATCCTATTTATCTTCTACAATGGAGATAAAGATAAATGAATCAATAAACTATTGCTGAATCCTATTTTCTCCCAGAGTTATCCCCAAAGAGGCTTGTGTTTACTGAGCTCTGCAGTATTTACACATTGAGAGAAAAGCATAGCATTCAAGCCATAAAAATTT... |
Task1_train_5048 | 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 | CAGTTTTGTAATATAAGTAAAACTACTATTTGAAAATTTCAAGTTGAAAAATTTAATATGTACAATGAGACTTTGAGAAAACATTTAAATTATCAAGCAATTGAATAAAGAAATGTACTTTAATTTAAAAAGACATTACTGTAAGATCTTACATGACATCCTATTTATCTTCTACAATGGAGATAAAGATAAATGAATCAATAAACTATTGCTGAATCCTATTTTCTCCCAGAGTTATCCCCAAAGAGGCTTGTGTTTACTGAGCTCTGCAGTATTTACACATTGAGAGAAAAGCATAGCATTCAAGCCATAAAAATTTT... | CAGTTTTGTAATATAAGTAAAACTACTATTTGAAAATTTCAAGTTGAAAAATTTAATATGTACAATGAGACTTTGAGAAAACATTTAAATTATCAAGCAATTGAATAAAGAAATGTACTTTAATTTAAAAAGACATTACTGTAAGATCTTACATGACATCCTATTTATCTTCTACAATGGAGATAAAGATAAATGAATCAATAAACTATTGCTGAATCCTATTTTCTCCCAGAGTTATCCCCAAAGAGGCTTGTGTTTACTGAGCTCTGCAGTATTTACACATTGAGAGAAAAGCATAGCATTCAAGCCATAAAAATTTT... |
Task1_train_5049 | 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 | AATATAAGTAAAACTACTATTTGAAAATTTCAAGTTGAAAAATTTAATATGTACAATGAGACTTTGAGAAAACATTTAAATTATCAAGCAATTGAATAAAGAAATGTACTTTAATTTAAAAAGACATTACTGTAAGATCTTACATGACATCCTATTTATCTTCTACAATGGAGATAAAGATAAATGAATCAATAAACTATTGCTGAATCCTATTTTCTCCCAGAGTTATCCCCAAAGAGGCTTGTGTTTACTGAGCTCTGCAGTATTTACACATTGAGAGAAAAGCATAGCATTCAAGCCATAAAAATTTTTAAAAAGTA... | AATATAAGTAAAACTACTATTTGAAAATTTCAAGTTGAAAAATTTAATATGTACAATGAGACTTTGAGAAAACATTTAAATTATCAAGCAATTGAATAAAGAAATGTACTTTAATTTAAAAAGACATTACTGTAAGATCTTACATGACATCCTATTTATCTTCTACAATGGAGATAAAGATAAATGAATCAATAAACTATTGCTGAATCCTATTTTCTCCCAGAGTTATCCCCAAAGAGGCTTGTGTTTACTGAGCTCTGCAGTATTTACACATTGAGAGAAAAGCATAGCATTCAAGCCATAAAAATTTTTAAAAAGTA... |
Task1_train_5050 | 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 | CTTCAAAATTAAAAAATATTTTTATTTCCTCTAGGGTCCTACTGGTCCTATTGGTCCTCCTGGCCCAGCTGGCCAGCCTGGAGATAAGGTAACCCTTAATACTACCTGGATATAAAAAGAAAATGTCTCTCTCTTTTGGATGCAAGACAGTGACATGGCTTCTCTTTTTCCAGGGTGAAGGTGGTGCCCCCGGACTTCCAGGTATAGCTGGACCTCGTGGTAGCCCTGTAAGTGTTAAAGACATTCTCAACATACTTTTTAACCCCATACAGACAGTAGCTACTTATGCTTCCCTTTTTGGCAGTTTTGCCCTCAGTTCC... | CTTCAAAATTAAAAAATATTTTTATTTCCTCTAGGGTCCTACTGGTCCTATTGGTCCTCCTGGCCCAGCTGGCCAGCCTGGAGATAAGGTAACCCTTAATACTACCTGGATATAAAAAGAAAATGTCTCTCTCTTTTGGATGCAAGACAGTGACATGGCTTCTCTTTTTCCAGGGTGAAGGTGGTGCCCCCGGACTTCCAGGTATAGCTGGACCTCGTGGTAGCCCTGTAAGTGTTAAAGACATTCTCAACATACTTTTTAACCCCATACAGACAGTAGCTACTTATGCTTCCCTTTTTGGCAGTTTTGCCCTCAGTTCC... |
Task1_train_5051 | 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 | TTCAAAATTAAAAAATATTTTTATTTCCTCTAGGGTCCTACTGGTCCTATTGGTCCTCCTGGCCCAGCTGGCCAGCCTGGAGATAAGGTAACCCTTAATACTACCTGGATATAAAAAGAAAATGTCTCTCTCTTTTGGATGCAAGACAGTGACATGGCTTCTCTTTTTCCAGGGTGAAGGTGGTGCCCCCGGACTTCCAGGTATAGCTGGACCTCGTGGTAGCCCTGTAAGTGTTAAAGACATTCTCAACATACTTTTTAACCCCATACAGACAGTAGCTACTTATGCTTCCCTTTTTGGCAGTTTTGCCCTCAGTTCCC... | TTCAAAATTAAAAAATATTTTTATTTCCTCTAGGGTCCTACTGGTCCTATTGGTCCTCCTGGCCCAGCTGGCCAGCCTGGAGATAAGGTAACCCTTAATACTACCTGGATATAAAAAGAAAATGTCTCTCTCTTTTGGATGCAAGACAGTGACATGGCTTCTCTTTTTCCAGGGTGAAGGTGGTGCCCCCGGACTTCCAGGTATAGCTGGACCTCGTGGTAGCCCTGTAAGTGTTAAAGACATTCTCAACATACTTTTTAACCCCATACAGACAGTAGCTACTTATGCTTCCCTTTTTGGCAGTTTTGCCCTCAGTTCCC... |
Task1_train_5052 | 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 | AAAAAATATTTTTATTTCCTCTAGGGTCCTACTGGTCCTATTGGTCCTCCTGGCCCAGCTGGCCAGCCTGGAGATAAGGTAACCCTTAATACTACCTGGATATAAAAAGAAAATGTCTCTCTCTTTTGGATGCAAGACAGTGACATGGCTTCTCTTTTTCCAGGGTGAAGGTGGTGCCCCCGGACTTCCAGGTATAGCTGGACCTCGTGGTAGCCCTGTAAGTGTTAAAGACATTCTCAACATACTTTTTAACCCCATACAGACAGTAGCTACTTATGCTTCCCTTTTTGGCAGTTTTGCCCTCAGTTCCCTGAGCCTCA... | AAAAAATATTTTTATTTCCTCTAGGGTCCTACTGGTCCTATTGGTCCTCCTGGCCCAGCTGGCCAGCCTGGAGATAAGGTAACCCTTAATACTACCTGGATATAAAAAGAAAATGTCTCTCTCTTTTGGATGCAAGACAGTGACATGGCTTCTCTTTTTCCAGGGTGAAGGTGGTGCCCCCGGACTTCCAGGTATAGCTGGACCTCGTGGTAGCCCTGTAAGTGTTAAAGACATTCTCAACATACTTTTTAACCCCATACAGACAGTAGCTACTTATGCTTCCCTTTTTGGCAGTTTTGCCCTCAGTTCCCTGAGCCTCA... |
Task1_train_5053 | 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 | TTTTATTTCCTCTAGGGTCCTACTGGTCCTATTGGTCCTCCTGGCCCAGCTGGCCAGCCTGGAGATAAGGTAACCCTTAATACTACCTGGATATAAAAAGAAAATGTCTCTCTCTTTTGGATGCAAGACAGTGACATGGCTTCTCTTTTTCCAGGGTGAAGGTGGTGCCCCCGGACTTCCAGGTATAGCTGGACCTCGTGGTAGCCCTGTAAGTGTTAAAGACATTCTCAACATACTTTTTAACCCCATACAGACAGTAGCTACTTATGCTTCCCTTTTTGGCAGTTTTGCCCTCAGTTCCCTGAGCCTCAATTTGGAGA... | TTTTATTTCCTCTAGGGTCCTACTGGTCCTATTGGTCCTCCTGGCCCAGCTGGCCAGCCTGGAGATAAGGTAACCCTTAATACTACCTGGATATAAAAAGAAAATGTCTCTCTCTTTTGGATGCAAGACAGTGACATGGCTTCTCTTTTTCCAGGGTGAAGGTGGTGCCCCCGGACTTCCAGGTATAGCTGGACCTCGTGGTAGCCCTGTAAGTGTTAAAGACATTCTCAACATACTTTTTAACCCCATACAGACAGTAGCTACTTATGCTTCCCTTTTTGGCAGTTTTGCCCTCAGTTCCCTGAGCCTCAATTTGGAGA... |
Task1_train_5054 | 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 | CCTATTGGTCCTCCTGGCCCAGCTGGCCAGCCTGGAGATAAGGTAACCCTTAATACTACCTGGATATAAAAAGAAAATGTCTCTCTCTTTTGGATGCAAGACAGTGACATGGCTTCTCTTTTTCCAGGGTGAAGGTGGTGCCCCCGGACTTCCAGGTATAGCTGGACCTCGTGGTAGCCCTGTAAGTGTTAAAGACATTCTCAACATACTTTTTAACCCCATACAGACAGTAGCTACTTATGCTTCCCTTTTTGGCAGTTTTGCCCTCAGTTCCCTGAGCCTCAATTTGGAGATATTATCTTCAAAAACCATATAAGGAA... | CCTATTGGTCCTCCTGGCCCAGCTGGCCAGCCTGGAGATAAGGTAACCCTTAATACTACCTGGATATAAAAAGAAAATGTCTCTCTCTTTTGGATGCAAGACAGTGACATGGCTTCTCTTTTTCCAGGGTGAAGGTGGTGCCCCCGGACTTCCAGGTATAGCTGGACCTCGTGGTAGCCCTGTAAGTGTTAAAGACATTCTCAACATACTTTTTAACCCCATACAGACAGTAGCTACTTATGCTTCCCTTTTTGGCAGTTTTGCCCTCAGTTCCCTGAGCCTCAATTTGGAGATATTATCTTCAAAAACCATATAAGGAA... |
Task1_train_5055 | 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 | AAACCATATAAGGAACCATATAGCATGCAAGGGAATGTTAAATTTCTTAAATCTAACATTCACAGGAGACCATTTTAAATCAGGATTTCTTTCCTAAATAACTTTGGAAAAAATACATGAATTGCACAAGTAGTACATGTTTGTAATTAGGTATTTCTTAAGCCTATAGAATCTTTGCCTGAGACTCCTTCTAGATTTAAAAGTCTTGACCTTCAGGATTTAAGACTCTGGAAAGATATTTAGTAAATGGTTTTTAAAAATAAATCAGTTAATTTTTCAGTTAAGCTTCTACCATATATTGAAATACATAAATATCTATA... | AAACCATATAAGGAACCATATAGCATGCAAGGGAATGTTAAATTTCTTAAATCTAACATTCACAGGAGACCATTTTAAATCAGGATTTCTTTCCTAAATAACTTTGGAAAAAATACATGAATTGCACAAGTAGTACATGTTTGTAATTAGGTATTTCTTAAGCCTATAGAATCTTTGCCTGAGACTCCTTCTAGATTTAAAAGTCTTGACCTTCAGGATTTAAGACTCTGGAAAGATATTTAGTAAATGGTTTTTAAAAATAAATCAGTTAATTTTTCAGTTAAGCTTCTACCATATATTGAAATACATAAATATCTATA... |
Task1_train_5056 | 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 | AAGGAACCATATAGCATGCAAGGGAATGTTAAATTTCTTAAATCTAACATTCACAGGAGACCATTTTAAATCAGGATTTCTTTCCTAAATAACTTTGGAAAAAATACATGAATTGCACAAGTAGTACATGTTTGTAATTAGGTATTTCTTAAGCCTATAGAATCTTTGCCTGAGACTCCTTCTAGATTTAAAAGTCTTGACCTTCAGGATTTAAGACTCTGGAAAGATATTTAGTAAATGGTTTTTAAAAATAAATCAGTTAATTTTTCAGTTAAGCTTCTACCATATATTGAAATACATAAATATCTATATATATAAAT... | AAGGAACCATATAGCATGCAAGGGAATGTTAAATTTCTTAAATCTAACATTCACAGGAGACCATTTTAAATCAGGATTTCTTTCCTAAATAACTTTGGAAAAAATACATGAATTGCACAAGTAGTACATGTTTGTAATTAGGTATTTCTTAAGCCTATAGAATCTTTGCCTGAGACTCCTTCTAGATTTAAAAGTCTTGACCTTCAGGATTTAAGACTCTGGAAAGATATTTAGTAAATGGTTTTTAAAAATAAATCAGTTAATTTTTCAGTTAAGCTTCTACCATATATTGAAATACATAAATATCTATATATATAAAT... |
Task1_train_5057 | 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 | GAAAGATATTTAGTAAATGGTTTTTAAAAATAAATCAGTTAATTTTTCAGTTAAGCTTCTACCATATATTGAAATACATAAATATCTATATATATAAATGTGTTAAATACTTTAAAATTCTCAAACTATTTTTCTTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACT... | GAAAGATATTTAGTAAATGGTTTTTAAAAATAAATCAGTTAATTTTTCAGTTAAGCTTCTACCATATATTGAAATACATAAATATCTATATATATAAATGTGTTAAATACTTTAAAATTCTCAAACTATTTTTCTTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACT... |
Task1_train_5058 | 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 | TTAGTAAATGGTTTTTAAAAATAAATCAGTTAATTTTTCAGTTAAGCTTCTACCATATATTGAAATACATAAATATCTATATATATAAATGTGTTAAATACTTTAAAATTCTCAAACTATTTTTCTTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGA... | TTAGTAAATGGTTTTTAAAAATAAATCAGTTAATTTTTCAGTTAAGCTTCTACCATATATTGAAATACATAAATATCTATATATATAAATGTGTTAAATACTTTAAAATTCTCAAACTATTTTTCTTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGA... |
Task1_train_5059 | A change on Chromosome 2 affects gene COL3A1 (collagen type III alpha 1 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Ehlers-Danlos syndrome, type 4 | AAATAAATCAGTTAATTTTTCAGTTAAGCTTCTACCATATATTGAAATACATAAATATCTATATATATAAATGTGTTAAATACTTTAAAATTCTCAAACTATTTTTCTTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTC... | AAATAAATCAGTTAATTTTTCAGTTAAGCTTCTACCATATATTGAAATACATAAATATCTATATATATAAATGTGTTAAATACTTTAAAATTCTCAAACTATTTTTCTTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTC... |
Task1_train_5060 | This sequence change occurs on Chromosome 2, altering COL3A1 (collagen type III alpha 1 chain). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Ehlers-Danlos syndrome, type 4 | AGTTAATTTTTCAGTTAAGCTTCTACCATATATTGAAATACATAAATATCTATATATATAAATGTGTTAAATACTTTAAAATTCTCAAACTATTTTTCTTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGG... | AGTTAATTTTTCAGTTAAGCTTCTACCATATATTGAAATACATAAATATCTATATATATAAATGTGTTAAATACTTTAAAATTCTCAAACTATTTTTCTTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGG... |
Task1_train_5061 | 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 | TTTCAGTTAAGCTTCTACCATATATTGAAATACATAAATATCTATATATATAAATGTGTTAAATACTTTAAAATTCTCAAACTATTTTTCTTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAG... | TTTCAGTTAAGCTTCTACCATATATTGAAATACATAAATATCTATATATATAAATGTGTTAAATACTTTAAAATTCTCAAACTATTTTTCTTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAG... |
Task1_train_5062 | 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 | GCTTCTACCATATATTGAAATACATAAATATCTATATATATAAATGTGTTAAATACTTTAAAATTCTCAAACTATTTTTCTTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGG... | GCTTCTACCATATATTGAAATACATAAATATCTATATATATAAATGTGTTAAATACTTTAAAATTCTCAAACTATTTTTCTTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGG... |
Task1_train_5063 | This genomic variant is located on Chromosome 2, within the COL3A1 (collagen type III alpha 1 chain) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | ATATATTGAAATACATAAATATCTATATATATAAATGTGTTAAATACTTTAAAATTCTCAAACTATTTTTCTTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGG... | ATATATTGAAATACATAAATATCTATATATATAAATGTGTTAAATACTTTAAAATTCTCAAACTATTTTTCTTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGG... |
Task1_train_5064 | 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 | ATATCTATATATATAAATGTGTTAAATACTTTAAAATTCTCAAACTATTTTTCTTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGG... | ATATCTATATATATAAATGTGTTAAATACTTTAAAATTCTCAAACTATTTTTCTTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGG... |
Task1_train_5065 | 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; Familial thoracic aortic aneurysm and aortic dissection | TGTGTTAAATACTTTAAAATTCTCAAACTATTTTTCTTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGA... | TGTGTTAAATACTTTAAAATTCTCAAACTATTTTTCTTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGA... |
Task1_train_5066 | 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 | GTGTTAAATACTTTAAAATTCTCAAACTATTTTTCTTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAA... | GTGTTAAATACTTTAAAATTCTCAAACTATTTTTCTTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAA... |
Task1_train_5067 | Given this variant in gene COL3A1 (collagen type III alpha 1 chain) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | GTGTTAAATACTTTAAAATTCTCAAACTATTTTTCTTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAA... | GTGTTAAATACTTTAAAATTCTCAAACTATTTTTCTTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAA... |
Task1_train_5068 | 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 | ACTTTAAAATTCTCAAACTATTTTTCTTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATAC... | ACTTTAAAATTCTCAAACTATTTTTCTTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATAC... |
Task1_train_5069 | 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 | TTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTC... | TTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTC... |
Task1_train_5070 | 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 | ATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCT... | ATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCT... |
Task1_train_5071 | 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 | GAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGG... | GAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGG... |
Task1_train_5072 | 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 | AGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTC... | AGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTC... |
Task1_train_5073 | 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 | AAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTA... | AAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTA... |
Task1_train_5074 | This variant affects the gene COL3A1 (collagen type III alpha 1 chain) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Ehlers-Danlos syndrome, type 4 | GACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTA... | GACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTA... |
Task1_train_5075 | 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 | GACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTA... | GACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTA... |
Task1_train_5076 | Here is a mutation in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Ehlers-Danlos syndrome, type 4 | ACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTAA... | ACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTAA... |
Task1_train_5077 | 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; Ehlers-Danlos syndrome, type 4 | ACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTAA... | ACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTAA... |
Task1_train_5078 | 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 | TCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTAAAGCAGTATC... | TCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTAAAGCAGTATC... |
Task1_train_5079 | 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 | ACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTAAAGCAGTATCATGGATTT... | ACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTAAAGCAGTATCATGGATTT... |
Task1_train_5080 | 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 | ACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTAAAGCAGTATCATGGATTT... | ACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTAAAGCAGTATCATGGATTT... |
Task1_train_5081 | 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 | CTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTAAAGCAGTATCATGGATTTA... | CTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTAAAGCAGTATCATGGATTTA... |
Task1_train_5082 | 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; Ehlers-Danlos syndrome, type 4 | CTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTAAAGCAGTATCATGGATTTA... | CTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTAAAGCAGTATCATGGATTTA... |
Task1_train_5083 | 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 | ATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTAAAGCAGTATCATGGATTTAAAAGCACTC... | ATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTAAAGCAGTATCATGGATTTAAAAGCACTC... |
Task1_train_5084 | 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 | CTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTAAAGCAGTATCATGGATTTAAAAGCACTCTGAATTTT... | CTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTAAAGCAGTATCATGGATTTAAAAGCACTCTGAATTTT... |
Task1_train_5085 | 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 | TGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTAAAGCAGTATCATGGATTTAAAAGCACTCTGAATTTTTGTAAATTCT... | TGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTAAAGCAGTATCATGGATTTAAAAGCACTCTGAATTTTTGTAAATTCT... |
Task1_train_5086 | Here is a mutation in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTAAAGCAGTATCATGGATTTAAAAGCACTCTGAATTTTTGTAAATTCTTCCATTATA... | TGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTAAAGCAGTATCATGGATTTAAAAGCACTCTGAATTTTTGTAAATTCTTCCATTATA... |
Task1_train_5087 | 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 | AAAGTTATTTTAACCTCTTCATAGAGTTCCTGGTTTTCAAAGGCTTAATGCTTTTCCCAAATTTTGATTTTGGTGCTATTCTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAA... | AAAGTTATTTTAACCTCTTCATAGAGTTCCTGGTTTTCAAAGGCTTAATGCTTTTCCCAAATTTTGATTTTGGTGCTATTCTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAA... |
Task1_train_5088 | A change on Chromosome 2 affects gene COL3A1 (collagen type III alpha 1 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Connective tissue nevi | AAGTTATTTTAACCTCTTCATAGAGTTCCTGGTTTTCAAAGGCTTAATGCTTTTCCCAAATTTTGATTTTGGTGCTATTCTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAAC... | AAGTTATTTTAACCTCTTCATAGAGTTCCTGGTTTTCAAAGGCTTAATGCTTTTCCCAAATTTTGATTTTGGTGCTATTCTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAAC... |
Task1_train_5089 | 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; Seizure | AAGTTATTTTAACCTCTTCATAGAGTTCCTGGTTTTCAAAGGCTTAATGCTTTTCCCAAATTTTGATTTTGGTGCTATTCTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAAC... | AAGTTATTTTAACCTCTTCATAGAGTTCCTGGTTTTCAAAGGCTTAATGCTTTTCCCAAATTTTGATTTTGGTGCTATTCTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAAC... |
Task1_train_5090 | 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 | TTAACCTCTTCATAGAGTTCCTGGTTTTCAAAGGCTTAATGCTTTTCCCAAATTTTGATTTTGGTGCTATTCTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAACCATAAATG... | TTAACCTCTTCATAGAGTTCCTGGTTTTCAAAGGCTTAATGCTTTTCCCAAATTTTGATTTTGGTGCTATTCTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAACCATAAATG... |
Task1_train_5091 | 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 | TTAACCTCTTCATAGAGTTCCTGGTTTTCAAAGGCTTAATGCTTTTCCCAAATTTTGATTTTGGTGCTATTCTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAACCATAAATG... | TTAACCTCTTCATAGAGTTCCTGGTTTTCAAAGGCTTAATGCTTTTCCCAAATTTTGATTTTGGTGCTATTCTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAACCATAAATG... |
Task1_train_5092 | 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 | TCCTGGTTTTCAAAGGCTTAATGCTTTTCCCAAATTTTGATTTTGGTGCTATTCTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAACCATAAATGACTTTCAGGTACAATGCA... | TCCTGGTTTTCAAAGGCTTAATGCTTTTCCCAAATTTTGATTTTGGTGCTATTCTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAACCATAAATGACTTTCAGGTACAATGCA... |
Task1_train_5093 | 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; Familial thoracic aortic aneurysm and aortic dissection | TCCTGGTTTTCAAAGGCTTAATGCTTTTCCCAAATTTTGATTTTGGTGCTATTCTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAACCATAAATGACTTTCAGGTACAATGCA... | TCCTGGTTTTCAAAGGCTTAATGCTTTTCCCAAATTTTGATTTTGGTGCTATTCTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAACCATAAATGACTTTCAGGTACAATGCA... |
Task1_train_5094 | 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 | TAATGCTTTTCCCAAATTTTGATTTTGGTGCTATTCTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAACCATAAATGACTTTCAGGTACAATGCAGATCATGCCACACATTAT... | TAATGCTTTTCCCAAATTTTGATTTTGGTGCTATTCTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAACCATAAATGACTTTCAGGTACAATGCAGATCATGCCACACATTAT... |
Task1_train_5095 | Consider a variant on Chromosome 2 in gene COL3A1 (collagen type III alpha 1 chain). Determine its clinical classification and disease relevance. | Pathogenic; Ehlers-Danlos syndrome, type 4 | AATGCTTTTCCCAAATTTTGATTTTGGTGCTATTCTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAACCATAAATGACTTTCAGGTACAATGCAGATCATGCCACACATTATA... | AATGCTTTTCCCAAATTTTGATTTTGGTGCTATTCTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAACCATAAATGACTTTCAGGTACAATGCAGATCATGCCACACATTATA... |
Task1_train_5096 | 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 | CCCAAATTTTGATTTTGGTGCTATTCTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAACCATAAATGACTTTCAGGTACAATGCAGATCATGCCACACATTATACTTTTTGTT... | CCCAAATTTTGATTTTGGTGCTATTCTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAACCATAAATGACTTTCAGGTACAATGCAGATCATGCCACACATTATACTTTTTGTT... |
Task1_train_5097 | A change on Chromosome 2 affects gene COL3A1 (collagen type III alpha 1 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Ehlers-Danlos syndrome, type 4 | TTGATTTTGGTGCTATTCTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAACCATAAATGACTTTCAGGTACAATGCAGATCATGCCACACATTATACTTTTTGTTTGTTGTAC... | TTGATTTTGGTGCTATTCTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAACCATAAATGACTTTCAGGTACAATGCAGATCATGCCACACATTATACTTTTTGTTTGTTGTAC... |
Task1_train_5098 | 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 | TTGATTTTGGTGCTATTCTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAACCATAAATGACTTTCAGGTACAATGCAGATCATGCCACACATTATACTTTTTGTTTGTTGTAC... | TTGATTTTGGTGCTATTCTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAACCATAAATGACTTTCAGGTACAATGCAGATCATGCCACACATTATACTTTTTGTTTGTTGTAC... |
Task1_train_5099 | 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 | TCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAACCATAAATGACTTTCAGGTACAATGCAGATCATGCCACACATTATACTTTTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAA... | TCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAACCATAAATGACTTTCAGGTACAATGCAGATCATGCCACACATTATACTTTTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAA... |
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