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_20700 | A variant found in Chromosome 15 affects FBN1 (fibrillin 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Marfan syndrome | AGCCAGAGACTCACGCAGTCGAAACTCCTATAGCACAGGGGTCACTTCAGTCAACCCTACATGCCACTGCAAAACTGTCTTGTGTAGAATCAAACTAGATGACAGAGATGATTTTGATAAATGAAAACACACCAAATATGTCTTCATCTGCATGAAAGTGAACCCCTGCAATGCAGAGCCTGCACCCGGGAAGCAGTAATTCTTTGAGTTTTTGCTAAGGAGGGCTCTGTACAGAATAATGTGGCAACTAGAACAGGTTACCAAAGCACCAAGCTTGCAGTGGCACTTCACAGACGCTTGCTGAATGAACATAAACAAGT... | AGCCAGAGACTCACGCAGTCGAAACTCCTATAGCACAGGGGTCACTTCAGTCAACCCTACATGCCACTGCAAAACTGTCTTGTGTAGAATCAAACTAGATGACAGAGATGATTTTGATAAATGAAAACACACCAAATATGTCTTCATCTGCATGAAAGTGAACCCCTGCAATGCAGAGCCTGCACCCGGGAAGCAGTAATTCTTTGAGTTTTTGCTAAGGAGGGCTCTGTACAGAATAATGTGGCAACTAGAACAGGTTACCAAAGCACCAAGCTTGCAGTGGCACTTCACAGACGCTTGCTGAATGAACATAAACAAGT... |
Task1_train_20701 | An alteration has been detected in FBN1 (fibrillin 1) on Chromosome 15. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Marfan syndrome | CTTCAGTCAACCCTACATGCCACTGCAAAACTGTCTTGTGTAGAATCAAACTAGATGACAGAGATGATTTTGATAAATGAAAACACACCAAATATGTCTTCATCTGCATGAAAGTGAACCCCTGCAATGCAGAGCCTGCACCCGGGAAGCAGTAATTCTTTGAGTTTTTGCTAAGGAGGGCTCTGTACAGAATAATGTGGCAACTAGAACAGGTTACCAAAGCACCAAGCTTGCAGTGGCACTTCACAGACGCTTGCTGAATGAACATAAACAAGTGAATGTGACACTTGAAAGGCAGCTCTACATCAGAAAGTTAAGAG... | CTTCAGTCAACCCTACATGCCACTGCAAAACTGTCTTGTGTAGAATCAAACTAGATGACAGAGATGATTTTGATAAATGAAAACACACCAAATATGTCTTCATCTGCATGAAAGTGAACCCCTGCAATGCAGAGCCTGCACCCGGGAAGCAGTAATTCTTTGAGTTTTTGCTAAGGAGGGCTCTGTACAGAATAATGTGGCAACTAGAACAGGTTACCAAAGCACCAAGCTTGCAGTGGCACTTCACAGACGCTTGCTGAATGAACATAAACAAGTGAATGTGACACTTGAAAGGCAGCTCTACATCAGAAAGTTAAGAG... |
Task1_train_20702 | Given a variant located on Chromosome 15 and affecting FBN1 (fibrillin 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CTTCAGTCAACCCTACATGCCACTGCAAAACTGTCTTGTGTAGAATCAAACTAGATGACAGAGATGATTTTGATAAATGAAAACACACCAAATATGTCTTCATCTGCATGAAAGTGAACCCCTGCAATGCAGAGCCTGCACCCGGGAAGCAGTAATTCTTTGAGTTTTTGCTAAGGAGGGCTCTGTACAGAATAATGTGGCAACTAGAACAGGTTACCAAAGCACCAAGCTTGCAGTGGCACTTCACAGACGCTTGCTGAATGAACATAAACAAGTGAATGTGACACTTGAAAGGCAGCTCTACATCAGAAAGTTAAGAG... | CTTCAGTCAACCCTACATGCCACTGCAAAACTGTCTTGTGTAGAATCAAACTAGATGACAGAGATGATTTTGATAAATGAAAACACACCAAATATGTCTTCATCTGCATGAAAGTGAACCCCTGCAATGCAGAGCCTGCACCCGGGAAGCAGTAATTCTTTGAGTTTTTGCTAAGGAGGGCTCTGTACAGAATAATGTGGCAACTAGAACAGGTTACCAAAGCACCAAGCTTGCAGTGGCACTTCACAGACGCTTGCTGAATGAACATAAACAAGTGAATGTGACACTTGAAAGGCAGCTCTACATCAGAAAGTTAAGAG... |
Task1_train_20703 | A genetic alteration is present in FBN1 (fibrillin 1) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Marfan syndrome | CTGCAAAACTGTCTTGTGTAGAATCAAACTAGATGACAGAGATGATTTTGATAAATGAAAACACACCAAATATGTCTTCATCTGCATGAAAGTGAACCCCTGCAATGCAGAGCCTGCACCCGGGAAGCAGTAATTCTTTGAGTTTTTGCTAAGGAGGGCTCTGTACAGAATAATGTGGCAACTAGAACAGGTTACCAAAGCACCAAGCTTGCAGTGGCACTTCACAGACGCTTGCTGAATGAACATAAACAAGTGAATGTGACACTTGAAAGGCAGCTCTACATCAGAAAGTTAAGAGTTGTGGGTTCTAGTTCCAAGCA... | CTGCAAAACTGTCTTGTGTAGAATCAAACTAGATGACAGAGATGATTTTGATAAATGAAAACACACCAAATATGTCTTCATCTGCATGAAAGTGAACCCCTGCAATGCAGAGCCTGCACCCGGGAAGCAGTAATTCTTTGAGTTTTTGCTAAGGAGGGCTCTGTACAGAATAATGTGGCAACTAGAACAGGTTACCAAAGCACCAAGCTTGCAGTGGCACTTCACAGACGCTTGCTGAATGAACATAAACAAGTGAATGTGACACTTGAAAGGCAGCTCTACATCAGAAAGTTAAGAGTTGTGGGTTCTAGTTCCAAGCA... |
Task1_train_20704 | This sequence variant lies in FBN1 (fibrillin 1) on Chromosome 15. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CTGCAAAACTGTCTTGTGTAGAATCAAACTAGATGACAGAGATGATTTTGATAAATGAAAACACACCAAATATGTCTTCATCTGCATGAAAGTGAACCCCTGCAATGCAGAGCCTGCACCCGGGAAGCAGTAATTCTTTGAGTTTTTGCTAAGGAGGGCTCTGTACAGAATAATGTGGCAACTAGAACAGGTTACCAAAGCACCAAGCTTGCAGTGGCACTTCACAGACGCTTGCTGAATGAACATAAACAAGTGAATGTGACACTTGAAAGGCAGCTCTACATCAGAAAGTTAAGAGTTGTGGGTTCTAGTTCCAAGCA... | CTGCAAAACTGTCTTGTGTAGAATCAAACTAGATGACAGAGATGATTTTGATAAATGAAAACACACCAAATATGTCTTCATCTGCATGAAAGTGAACCCCTGCAATGCAGAGCCTGCACCCGGGAAGCAGTAATTCTTTGAGTTTTTGCTAAGGAGGGCTCTGTACAGAATAATGTGGCAACTAGAACAGGTTACCAAAGCACCAAGCTTGCAGTGGCACTTCACAGACGCTTGCTGAATGAACATAAACAAGTGAATGTGACACTTGAAAGGCAGCTCTACATCAGAAAGTTAAGAGTTGTGGGTTCTAGTTCCAAGCA... |
Task1_train_20705 | The gene FBN1 (fibrillin 1) on Chromosome 15 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 | AAAACTGTCTTGTGTAGAATCAAACTAGATGACAGAGATGATTTTGATAAATGAAAACACACCAAATATGTCTTCATCTGCATGAAAGTGAACCCCTGCAATGCAGAGCCTGCACCCGGGAAGCAGTAATTCTTTGAGTTTTTGCTAAGGAGGGCTCTGTACAGAATAATGTGGCAACTAGAACAGGTTACCAAAGCACCAAGCTTGCAGTGGCACTTCACAGACGCTTGCTGAATGAACATAAACAAGTGAATGTGACACTTGAAAGGCAGCTCTACATCAGAAAGTTAAGAGTTGTGGGTTCTAGTTCCAAGCATGTC... | AAAACTGTCTTGTGTAGAATCAAACTAGATGACAGAGATGATTTTGATAAATGAAAACACACCAAATATGTCTTCATCTGCATGAAAGTGAACCCCTGCAATGCAGAGCCTGCACCCGGGAAGCAGTAATTCTTTGAGTTTTTGCTAAGGAGGGCTCTGTACAGAATAATGTGGCAACTAGAACAGGTTACCAAAGCACCAAGCTTGCAGTGGCACTTCACAGACGCTTGCTGAATGAACATAAACAAGTGAATGTGACACTTGAAAGGCAGCTCTACATCAGAAAGTTAAGAGTTGTGGGTTCTAGTTCCAAGCATGTC... |
Task1_train_20706 | The variant affects gene FBN1 (fibrillin 1), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Marfan syndrome | AAAACTGTCTTGTGTAGAATCAAACTAGATGACAGAGATGATTTTGATAAATGAAAACACACCAAATATGTCTTCATCTGCATGAAAGTGAACCCCTGCAATGCAGAGCCTGCACCCGGGAAGCAGTAATTCTTTGAGTTTTTGCTAAGGAGGGCTCTGTACAGAATAATGTGGCAACTAGAACAGGTTACCAAAGCACCAAGCTTGCAGTGGCACTTCACAGACGCTTGCTGAATGAACATAAACAAGTGAATGTGACACTTGAAAGGCAGCTCTACATCAGAAAGTTAAGAGTTGTGGGTTCTAGTTCCAAGCATGTC... | AAAACTGTCTTGTGTAGAATCAAACTAGATGACAGAGATGATTTTGATAAATGAAAACACACCAAATATGTCTTCATCTGCATGAAAGTGAACCCCTGCAATGCAGAGCCTGCACCCGGGAAGCAGTAATTCTTTGAGTTTTTGCTAAGGAGGGCTCTGTACAGAATAATGTGGCAACTAGAACAGGTTACCAAAGCACCAAGCTTGCAGTGGCACTTCACAGACGCTTGCTGAATGAACATAAACAAGTGAATGTGACACTTGAAAGGCAGCTCTACATCAGAAAGTTAAGAGTTGTGGGTTCTAGTTCCAAGCATGTC... |
Task1_train_20707 | Consider this mutation in FBN1 (fibrillin 1) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AGCATGTCACAAAAGAACTGGGCAAGGAAATATTACCGTCCCTTTCTGGACTTCTAGGTCCTTATCTGTAAAACAAAGTGCCTGAGCTAAGTGGCTTCTGGTATCCCTCCAAACTCACAATGTTTTGATTCTCTGATGTGCATTAAGAGTTATTTTCCCATGACATTGTAGAATCAAAGATGACATCATTTCAATTTAATGAGAGAGTCAGTAGATCTCCCTTAATTATCAAAAGAATTTAGCAATCTTGAAAAACAAAACAAAACAAAACAAAACACACAAAAAAACACAACCTTGCTGTGTTTCCTGCTTGCGCTCTG... | AGCATGTCACAAAAGAACTGGGCAAGGAAATATTACCGTCCCTTTCTGGACTTCTAGGTCCTTATCTGTAAAACAAAGTGCCTGAGCTAAGTGGCTTCTGGTATCCCTCCAAACTCACAATGTTTTGATTCTCTGATGTGCATTAAGAGTTATTTTCCCATGACATTGTAGAATCAAAGATGACATCATTTCAATTTAATGAGAGAGTCAGTAGATCTCCCTTAATTATCAAAAGAATTTAGCAATCTTGAAAAACAAAACAAAACAAAACAAAACACACAAAAAAACACAACCTTGCTGTGTTTCCTGCTTGCGCTCTG... |
Task1_train_20708 | A variant was discovered in gene FBN1 (fibrillin 1), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Marfan syndrome | AGCATGTCACAAAAGAACTGGGCAAGGAAATATTACCGTCCCTTTCTGGACTTCTAGGTCCTTATCTGTAAAACAAAGTGCCTGAGCTAAGTGGCTTCTGGTATCCCTCCAAACTCACAATGTTTTGATTCTCTGATGTGCATTAAGAGTTATTTTCCCATGACATTGTAGAATCAAAGATGACATCATTTCAATTTAATGAGAGAGTCAGTAGATCTCCCTTAATTATCAAAAGAATTTAGCAATCTTGAAAAACAAAACAAAACAAAACAAAACACACAAAAAAACACAACCTTGCTGTGTTTCCTGCTTGCGCTCTG... | AGCATGTCACAAAAGAACTGGGCAAGGAAATATTACCGTCCCTTTCTGGACTTCTAGGTCCTTATCTGTAAAACAAAGTGCCTGAGCTAAGTGGCTTCTGGTATCCCTCCAAACTCACAATGTTTTGATTCTCTGATGTGCATTAAGAGTTATTTTCCCATGACATTGTAGAATCAAAGATGACATCATTTCAATTTAATGAGAGAGTCAGTAGATCTCCCTTAATTATCAAAAGAATTTAGCAATCTTGAAAAACAAAACAAAACAAAACAAAACACACAAAAAAACACAACCTTGCTGTGTTTCCTGCTTGCGCTCTG... |
Task1_train_20709 | This variant affects the gene FBN1 (fibrillin 1) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Marfan syndrome | AGCATGTCACAAAAGAACTGGGCAAGGAAATATTACCGTCCCTTTCTGGACTTCTAGGTCCTTATCTGTAAAACAAAGTGCCTGAGCTAAGTGGCTTCTGGTATCCCTCCAAACTCACAATGTTTTGATTCTCTGATGTGCATTAAGAGTTATTTTCCCATGACATTGTAGAATCAAAGATGACATCATTTCAATTTAATGAGAGAGTCAGTAGATCTCCCTTAATTATCAAAAGAATTTAGCAATCTTGAAAAACAAAACAAAACAAAACAAAACACACAAAAAAACACAACCTTGCTGTGTTTCCTGCTTGCGCTCTG... | AGCATGTCACAAAAGAACTGGGCAAGGAAATATTACCGTCCCTTTCTGGACTTCTAGGTCCTTATCTGTAAAACAAAGTGCCTGAGCTAAGTGGCTTCTGGTATCCCTCCAAACTCACAATGTTTTGATTCTCTGATGTGCATTAAGAGTTATTTTCCCATGACATTGTAGAATCAAAGATGACATCATTTCAATTTAATGAGAGAGTCAGTAGATCTCCCTTAATTATCAAAAGAATTTAGCAATCTTGAAAAACAAAACAAAACAAAACAAAACACACAAAAAAACACAACCTTGCTGTGTTTCCTGCTTGCGCTCTG... |
Task1_train_20710 | The gene FBN1 (fibrillin 1) on Chromosome 15 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AGCATGTCACAAAAGAACTGGGCAAGGAAATATTACCGTCCCTTTCTGGACTTCTAGGTCCTTATCTGTAAAACAAAGTGCCTGAGCTAAGTGGCTTCTGGTATCCCTCCAAACTCACAATGTTTTGATTCTCTGATGTGCATTAAGAGTTATTTTCCCATGACATTGTAGAATCAAAGATGACATCATTTCAATTTAATGAGAGAGTCAGTAGATCTCCCTTAATTATCAAAAGAATTTAGCAATCTTGAAAAACAAAACAAAACAAAACAAAACACACAAAAAAACACAACCTTGCTGTGTTTCCTGCTTGCGCTCTG... | AGCATGTCACAAAAGAACTGGGCAAGGAAATATTACCGTCCCTTTCTGGACTTCTAGGTCCTTATCTGTAAAACAAAGTGCCTGAGCTAAGTGGCTTCTGGTATCCCTCCAAACTCACAATGTTTTGATTCTCTGATGTGCATTAAGAGTTATTTTCCCATGACATTGTAGAATCAAAGATGACATCATTTCAATTTAATGAGAGAGTCAGTAGATCTCCCTTAATTATCAAAAGAATTTAGCAATCTTGAAAAACAAAACAAAACAAAACAAAACACACAAAAAAACACAACCTTGCTGTGTTTCCTGCTTGCGCTCTG... |
Task1_train_20711 | A sequence alteration has been identified in FBN1 (fibrillin 1) on Chromosome 15. Is it disease-inducing or harmless? | Pathogenic; Marfan syndrome | GCATGTCACAAAAGAACTGGGCAAGGAAATATTACCGTCCCTTTCTGGACTTCTAGGTCCTTATCTGTAAAACAAAGTGCCTGAGCTAAGTGGCTTCTGGTATCCCTCCAAACTCACAATGTTTTGATTCTCTGATGTGCATTAAGAGTTATTTTCCCATGACATTGTAGAATCAAAGATGACATCATTTCAATTTAATGAGAGAGTCAGTAGATCTCCCTTAATTATCAAAAGAATTTAGCAATCTTGAAAAACAAAACAAAACAAAACAAAACACACAAAAAAACACAACCTTGCTGTGTTTCCTGCTTGCGCTCTGT... | GCATGTCACAAAAGAACTGGGCAAGGAAATATTACCGTCCCTTTCTGGACTTCTAGGTCCTTATCTGTAAAACAAAGTGCCTGAGCTAAGTGGCTTCTGGTATCCCTCCAAACTCACAATGTTTTGATTCTCTGATGTGCATTAAGAGTTATTTTCCCATGACATTGTAGAATCAAAGATGACATCATTTCAATTTAATGAGAGAGTCAGTAGATCTCCCTTAATTATCAAAAGAATTTAGCAATCTTGAAAAACAAAACAAAACAAAACAAAACACACAAAAAAACACAACCTTGCTGTGTTTCCTGCTTGCGCTCTGT... |
Task1_train_20712 | The gene FBN1 (fibrillin 1), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GCATGTCACAAAAGAACTGGGCAAGGAAATATTACCGTCCCTTTCTGGACTTCTAGGTCCTTATCTGTAAAACAAAGTGCCTGAGCTAAGTGGCTTCTGGTATCCCTCCAAACTCACAATGTTTTGATTCTCTGATGTGCATTAAGAGTTATTTTCCCATGACATTGTAGAATCAAAGATGACATCATTTCAATTTAATGAGAGAGTCAGTAGATCTCCCTTAATTATCAAAAGAATTTAGCAATCTTGAAAAACAAAACAAAACAAAACAAAACACACAAAAAAACACAACCTTGCTGTGTTTCCTGCTTGCGCTCTGT... | GCATGTCACAAAAGAACTGGGCAAGGAAATATTACCGTCCCTTTCTGGACTTCTAGGTCCTTATCTGTAAAACAAAGTGCCTGAGCTAAGTGGCTTCTGGTATCCCTCCAAACTCACAATGTTTTGATTCTCTGATGTGCATTAAGAGTTATTTTCCCATGACATTGTAGAATCAAAGATGACATCATTTCAATTTAATGAGAGAGTCAGTAGATCTCCCTTAATTATCAAAAGAATTTAGCAATCTTGAAAAACAAAACAAAACAAAACAAAACACACAAAAAAACACAACCTTGCTGTGTTTCCTGCTTGCGCTCTGT... |
Task1_train_20713 | Given this variant in gene FBN1 (fibrillin 1) on Chromosome 15, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Marfan syndrome | GCATGTCACAAAAGAACTGGGCAAGGAAATATTACCGTCCCTTTCTGGACTTCTAGGTCCTTATCTGTAAAACAAAGTGCCTGAGCTAAGTGGCTTCTGGTATCCCTCCAAACTCACAATGTTTTGATTCTCTGATGTGCATTAAGAGTTATTTTCCCATGACATTGTAGAATCAAAGATGACATCATTTCAATTTAATGAGAGAGTCAGTAGATCTCCCTTAATTATCAAAAGAATTTAGCAATCTTGAAAAACAAAACAAAACAAAACAAAACACACAAAAAAACACAACCTTGCTGTGTTTCCTGCTTGCGCTCTGT... | GCATGTCACAAAAGAACTGGGCAAGGAAATATTACCGTCCCTTTCTGGACTTCTAGGTCCTTATCTGTAAAACAAAGTGCCTGAGCTAAGTGGCTTCTGGTATCCCTCCAAACTCACAATGTTTTGATTCTCTGATGTGCATTAAGAGTTATTTTCCCATGACATTGTAGAATCAAAGATGACATCATTTCAATTTAATGAGAGAGTCAGTAGATCTCCCTTAATTATCAAAAGAATTTAGCAATCTTGAAAAACAAAACAAAACAAAACAAAACACACAAAAAAACACAACCTTGCTGTGTTTCCTGCTTGCGCTCTGT... |
Task1_train_20714 | An alteration has been detected in FBN1 (fibrillin 1) on Chromosome 15. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Marfan syndrome | TGTAAAACAAAGTGCCTGAGCTAAGTGGCTTCTGGTATCCCTCCAAACTCACAATGTTTTGATTCTCTGATGTGCATTAAGAGTTATTTTCCCATGACATTGTAGAATCAAAGATGACATCATTTCAATTTAATGAGAGAGTCAGTAGATCTCCCTTAATTATCAAAAGAATTTAGCAATCTTGAAAAACAAAACAAAACAAAACAAAACACACAAAAAAACACAACCTTGCTGTGTTTCCTGCTTGCGCTCTGTCTCAAAATGTGTAGAGCTGAACAGAACTACTTTGGCATCTTCAGGCCAAAAGCCACTCAAAATAG... | TGTAAAACAAAGTGCCTGAGCTAAGTGGCTTCTGGTATCCCTCCAAACTCACAATGTTTTGATTCTCTGATGTGCATTAAGAGTTATTTTCCCATGACATTGTAGAATCAAAGATGACATCATTTCAATTTAATGAGAGAGTCAGTAGATCTCCCTTAATTATCAAAAGAATTTAGCAATCTTGAAAAACAAAACAAAACAAAACAAAACACACAAAAAAACACAACCTTGCTGTGTTTCCTGCTTGCGCTCTGTCTCAAAATGTGTAGAGCTGAACAGAACTACTTTGGCATCTTCAGGCCAAAAGCCACTCAAAATAG... |
Task1_train_20715 | Given this context: Chromosome 15, gene FBN1 (fibrillin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TGTAAAACAAAGTGCCTGAGCTAAGTGGCTTCTGGTATCCCTCCAAACTCACAATGTTTTGATTCTCTGATGTGCATTAAGAGTTATTTTCCCATGACATTGTAGAATCAAAGATGACATCATTTCAATTTAATGAGAGAGTCAGTAGATCTCCCTTAATTATCAAAAGAATTTAGCAATCTTGAAAAACAAAACAAAACAAAACAAAACACACAAAAAAACACAACCTTGCTGTGTTTCCTGCTTGCGCTCTGTCTCAAAATGTGTAGAGCTGAACAGAACTACTTTGGCATCTTCAGGCCAAAAGCCACTCAAAATAG... | TGTAAAACAAAGTGCCTGAGCTAAGTGGCTTCTGGTATCCCTCCAAACTCACAATGTTTTGATTCTCTGATGTGCATTAAGAGTTATTTTCCCATGACATTGTAGAATCAAAGATGACATCATTTCAATTTAATGAGAGAGTCAGTAGATCTCCCTTAATTATCAAAAGAATTTAGCAATCTTGAAAAACAAAACAAAACAAAACAAAACACACAAAAAAACACAACCTTGCTGTGTTTCCTGCTTGCGCTCTGTCTCAAAATGTGTAGAGCTGAACAGAACTACTTTGGCATCTTCAGGCCAAAAGCCACTCAAAATAG... |
Task1_train_20716 | A genomic change on Chromosome 15 affects FBN1 (fibrillin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | GTAAAACAAAGTGCCTGAGCTAAGTGGCTTCTGGTATCCCTCCAAACTCACAATGTTTTGATTCTCTGATGTGCATTAAGAGTTATTTTCCCATGACATTGTAGAATCAAAGATGACATCATTTCAATTTAATGAGAGAGTCAGTAGATCTCCCTTAATTATCAAAAGAATTTAGCAATCTTGAAAAACAAAACAAAACAAAACAAAACACACAAAAAAACACAACCTTGCTGTGTTTCCTGCTTGCGCTCTGTCTCAAAATGTGTAGAGCTGAACAGAACTACTTTGGCATCTTCAGGCCAAAAGCCACTCAAAATAGC... | GTAAAACAAAGTGCCTGAGCTAAGTGGCTTCTGGTATCCCTCCAAACTCACAATGTTTTGATTCTCTGATGTGCATTAAGAGTTATTTTCCCATGACATTGTAGAATCAAAGATGACATCATTTCAATTTAATGAGAGAGTCAGTAGATCTCCCTTAATTATCAAAAGAATTTAGCAATCTTGAAAAACAAAACAAAACAAAACAAAACACACAAAAAAACACAACCTTGCTGTGTTTCCTGCTTGCGCTCTGTCTCAAAATGTGTAGAGCTGAACAGAACTACTTTGGCATCTTCAGGCCAAAAGCCACTCAAAATAGC... |
Task1_train_20717 | This is a variant in FBN1 (fibrillin 1), located on Chromosome 15. Is this mutation a likely cause of disease or not? | Pathogenic; Marfan syndrome | TAGAGTAACATCTGGAGTGGACCTACACTGAGAGACCCTCCCGAGACCTGTCCTAGTTCCGGCTTCTCTTATAATGCTGCCTGTCCTGTGCTCTTTCCACTGCTGAGATCTTGACTGATATGCACTCTCTGTTCAGCTTTCTCAGAGTCTGTGGACTGGTTTCCCCTGTCTATGGCCCAAGGAGCTTGGCTGGAGCATCATGACACATTTGCTGAAGCTCACCTGCAACAGGTGAGGAAGATGACTCAGTGATTTCTCCTAACACCATTTCATGAGTACAACACATGAAGAACAGCAGCACTTGCTGCTCTTGCCTCCAA... | TAGAGTAACATCTGGAGTGGACCTACACTGAGAGACCCTCCCGAGACCTGTCCTAGTTCCGGCTTCTCTTATAATGCTGCCTGTCCTGTGCTCTTTCCACTGCTGAGATCTTGACTGATATGCACTCTCTGTTCAGCTTTCTCAGAGTCTGTGGACTGGTTTCCCCTGTCTATGGCCCAAGGAGCTTGGCTGGAGCATCATGACACATTTGCTGAAGCTCACCTGCAACAGGTGAGGAAGATGACTCAGTGATTTCTCCTAACACCATTTCATGAGTACAACACATGAAGAACAGCAGCACTTGCTGCTCTTGCCTCCAA... |
Task1_train_20718 | This sequence variant lies in FBN1 (fibrillin 1) on Chromosome 15. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Marfan syndrome | CCCGAGACCTGTCCTAGTTCCGGCTTCTCTTATAATGCTGCCTGTCCTGTGCTCTTTCCACTGCTGAGATCTTGACTGATATGCACTCTCTGTTCAGCTTTCTCAGAGTCTGTGGACTGGTTTCCCCTGTCTATGGCCCAAGGAGCTTGGCTGGAGCATCATGACACATTTGCTGAAGCTCACCTGCAACAGGTGAGGAAGATGACTCAGTGATTTCTCCTAACACCATTTCATGAGTACAACACATGAAGAACAGCAGCACTTGCTGCTCTTGCCTCCAAGATGCCCTTCCTCCTCTTCTCCCCTCTAATCTGCATTCT... | CCCGAGACCTGTCCTAGTTCCGGCTTCTCTTATAATGCTGCCTGTCCTGTGCTCTTTCCACTGCTGAGATCTTGACTGATATGCACTCTCTGTTCAGCTTTCTCAGAGTCTGTGGACTGGTTTCCCCTGTCTATGGCCCAAGGAGCTTGGCTGGAGCATCATGACACATTTGCTGAAGCTCACCTGCAACAGGTGAGGAAGATGACTCAGTGATTTCTCCTAACACCATTTCATGAGTACAACACATGAAGAACAGCAGCACTTGCTGCTCTTGCCTCCAAGATGCCCTTCCTCCTCTTCTCCCCTCTAATCTGCATTCT... |
Task1_train_20719 | This mutation occurs in FBN1 (fibrillin 1) on Chromosome 15. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CCCGAGACCTGTCCTAGTTCCGGCTTCTCTTATAATGCTGCCTGTCCTGTGCTCTTTCCACTGCTGAGATCTTGACTGATATGCACTCTCTGTTCAGCTTTCTCAGAGTCTGTGGACTGGTTTCCCCTGTCTATGGCCCAAGGAGCTTGGCTGGAGCATCATGACACATTTGCTGAAGCTCACCTGCAACAGGTGAGGAAGATGACTCAGTGATTTCTCCTAACACCATTTCATGAGTACAACACATGAAGAACAGCAGCACTTGCTGCTCTTGCCTCCAAGATGCCCTTCCTCCTCTTCTCCCCTCTAATCTGCATTCT... | CCCGAGACCTGTCCTAGTTCCGGCTTCTCTTATAATGCTGCCTGTCCTGTGCTCTTTCCACTGCTGAGATCTTGACTGATATGCACTCTCTGTTCAGCTTTCTCAGAGTCTGTGGACTGGTTTCCCCTGTCTATGGCCCAAGGAGCTTGGCTGGAGCATCATGACACATTTGCTGAAGCTCACCTGCAACAGGTGAGGAAGATGACTCAGTGATTTCTCCTAACACCATTTCATGAGTACAACACATGAAGAACAGCAGCACTTGCTGCTCTTGCCTCCAAGATGCCCTTCCTCCTCTTCTCCCCTCTAATCTGCATTCT... |
Task1_train_20720 | This mutation occurs in FBN1 (fibrillin 1) on Chromosome 15. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Marfan syndrome | CCGAGACCTGTCCTAGTTCCGGCTTCTCTTATAATGCTGCCTGTCCTGTGCTCTTTCCACTGCTGAGATCTTGACTGATATGCACTCTCTGTTCAGCTTTCTCAGAGTCTGTGGACTGGTTTCCCCTGTCTATGGCCCAAGGAGCTTGGCTGGAGCATCATGACACATTTGCTGAAGCTCACCTGCAACAGGTGAGGAAGATGACTCAGTGATTTCTCCTAACACCATTTCATGAGTACAACACATGAAGAACAGCAGCACTTGCTGCTCTTGCCTCCAAGATGCCCTTCCTCCTCTTCTCCCCTCTAATCTGCATTCTA... | CCGAGACCTGTCCTAGTTCCGGCTTCTCTTATAATGCTGCCTGTCCTGTGCTCTTTCCACTGCTGAGATCTTGACTGATATGCACTCTCTGTTCAGCTTTCTCAGAGTCTGTGGACTGGTTTCCCCTGTCTATGGCCCAAGGAGCTTGGCTGGAGCATCATGACACATTTGCTGAAGCTCACCTGCAACAGGTGAGGAAGATGACTCAGTGATTTCTCCTAACACCATTTCATGAGTACAACACATGAAGAACAGCAGCACTTGCTGCTCTTGCCTCCAAGATGCCCTTCCTCCTCTTCTCCCCTCTAATCTGCATTCTA... |
Task1_train_20721 | Consider a variant on Chromosome 15 in gene FBN1 (fibrillin 1). Determine its clinical classification and disease relevance. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CCGAGACCTGTCCTAGTTCCGGCTTCTCTTATAATGCTGCCTGTCCTGTGCTCTTTCCACTGCTGAGATCTTGACTGATATGCACTCTCTGTTCAGCTTTCTCAGAGTCTGTGGACTGGTTTCCCCTGTCTATGGCCCAAGGAGCTTGGCTGGAGCATCATGACACATTTGCTGAAGCTCACCTGCAACAGGTGAGGAAGATGACTCAGTGATTTCTCCTAACACCATTTCATGAGTACAACACATGAAGAACAGCAGCACTTGCTGCTCTTGCCTCCAAGATGCCCTTCCTCCTCTTCTCCCCTCTAATCTGCATTCTA... | CCGAGACCTGTCCTAGTTCCGGCTTCTCTTATAATGCTGCCTGTCCTGTGCTCTTTCCACTGCTGAGATCTTGACTGATATGCACTCTCTGTTCAGCTTTCTCAGAGTCTGTGGACTGGTTTCCCCTGTCTATGGCCCAAGGAGCTTGGCTGGAGCATCATGACACATTTGCTGAAGCTCACCTGCAACAGGTGAGGAAGATGACTCAGTGATTTCTCCTAACACCATTTCATGAGTACAACACATGAAGAACAGCAGCACTTGCTGCTCTTGCCTCCAAGATGCCCTTCCTCCTCTTCTCCCCTCTAATCTGCATTCTA... |
Task1_train_20722 | This variant affects gene FBN1 (fibrillin 1) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GATCTTGACTGATATGCACTCTCTGTTCAGCTTTCTCAGAGTCTGTGGACTGGTTTCCCCTGTCTATGGCCCAAGGAGCTTGGCTGGAGCATCATGACACATTTGCTGAAGCTCACCTGCAACAGGTGAGGAAGATGACTCAGTGATTTCTCCTAACACCATTTCATGAGTACAACACATGAAGAACAGCAGCACTTGCTGCTCTTGCCTCCAAGATGCCCTTCCTCCTCTTCTCCCCTCTAATCTGCATTCTACCCATCTCTCACTGGGGATGTGCTGCTCCCACGGCCACCCTTCTGGCTTCCTCCTTCTCAGTGACT... | GATCTTGACTGATATGCACTCTCTGTTCAGCTTTCTCAGAGTCTGTGGACTGGTTTCCCCTGTCTATGGCCCAAGGAGCTTGGCTGGAGCATCATGACACATTTGCTGAAGCTCACCTGCAACAGGTGAGGAAGATGACTCAGTGATTTCTCCTAACACCATTTCATGAGTACAACACATGAAGAACAGCAGCACTTGCTGCTCTTGCCTCCAAGATGCCCTTCCTCCTCTTCTCCCCTCTAATCTGCATTCTACCCATCTCTCACTGGGGATGTGCTGCTCCCACGGCCACCCTTCTGGCTTCCTCCTTCTCAGTGACT... |
Task1_train_20723 | A mutation on Chromosome 15 affecting FBN1 (fibrillin 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Marfan syndrome | GATCTTGACTGATATGCACTCTCTGTTCAGCTTTCTCAGAGTCTGTGGACTGGTTTCCCCTGTCTATGGCCCAAGGAGCTTGGCTGGAGCATCATGACACATTTGCTGAAGCTCACCTGCAACAGGTGAGGAAGATGACTCAGTGATTTCTCCTAACACCATTTCATGAGTACAACACATGAAGAACAGCAGCACTTGCTGCTCTTGCCTCCAAGATGCCCTTCCTCCTCTTCTCCCCTCTAATCTGCATTCTACCCATCTCTCACTGGGGATGTGCTGCTCCCACGGCCACCCTTCTGGCTTCCTCCTTCTCAGTGACT... | GATCTTGACTGATATGCACTCTCTGTTCAGCTTTCTCAGAGTCTGTGGACTGGTTTCCCCTGTCTATGGCCCAAGGAGCTTGGCTGGAGCATCATGACACATTTGCTGAAGCTCACCTGCAACAGGTGAGGAAGATGACTCAGTGATTTCTCCTAACACCATTTCATGAGTACAACACATGAAGAACAGCAGCACTTGCTGCTCTTGCCTCCAAGATGCCCTTCCTCCTCTTCTCCCCTCTAATCTGCATTCTACCCATCTCTCACTGGGGATGTGCTGCTCCCACGGCCACCCTTCTGGCTTCCTCCTTCTCAGTGACT... |
Task1_train_20724 | Given this context: Chromosome 15, gene FBN1 (fibrillin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Marfan syndrome | ATATGCACTCTCTGTTCAGCTTTCTCAGAGTCTGTGGACTGGTTTCCCCTGTCTATGGCCCAAGGAGCTTGGCTGGAGCATCATGACACATTTGCTGAAGCTCACCTGCAACAGGTGAGGAAGATGACTCAGTGATTTCTCCTAACACCATTTCATGAGTACAACACATGAAGAACAGCAGCACTTGCTGCTCTTGCCTCCAAGATGCCCTTCCTCCTCTTCTCCCCTCTAATCTGCATTCTACCCATCTCTCACTGGGGATGTGCTGCTCCCACGGCCACCCTTCTGGCTTCCTCCTTCTCAGTGACTGTGGTGCAACT... | ATATGCACTCTCTGTTCAGCTTTCTCAGAGTCTGTGGACTGGTTTCCCCTGTCTATGGCCCAAGGAGCTTGGCTGGAGCATCATGACACATTTGCTGAAGCTCACCTGCAACAGGTGAGGAAGATGACTCAGTGATTTCTCCTAACACCATTTCATGAGTACAACACATGAAGAACAGCAGCACTTGCTGCTCTTGCCTCCAAGATGCCCTTCCTCCTCTTCTCCCCTCTAATCTGCATTCTACCCATCTCTCACTGGGGATGTGCTGCTCCCACGGCCACCCTTCTGGCTTCCTCCTTCTCAGTGACTGTGGTGCAACT... |
Task1_train_20725 | Here’s a variant in FBN1 (fibrillin 1) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | ATATGCACTCTCTGTTCAGCTTTCTCAGAGTCTGTGGACTGGTTTCCCCTGTCTATGGCCCAAGGAGCTTGGCTGGAGCATCATGACACATTTGCTGAAGCTCACCTGCAACAGGTGAGGAAGATGACTCAGTGATTTCTCCTAACACCATTTCATGAGTACAACACATGAAGAACAGCAGCACTTGCTGCTCTTGCCTCCAAGATGCCCTTCCTCCTCTTCTCCCCTCTAATCTGCATTCTACCCATCTCTCACTGGGGATGTGCTGCTCCCACGGCCACCCTTCTGGCTTCCTCCTTCTCAGTGACTGTGGTGCAACT... | ATATGCACTCTCTGTTCAGCTTTCTCAGAGTCTGTGGACTGGTTTCCCCTGTCTATGGCCCAAGGAGCTTGGCTGGAGCATCATGACACATTTGCTGAAGCTCACCTGCAACAGGTGAGGAAGATGACTCAGTGATTTCTCCTAACACCATTTCATGAGTACAACACATGAAGAACAGCAGCACTTGCTGCTCTTGCCTCCAAGATGCCCTTCCTCCTCTTCTCCCCTCTAATCTGCATTCTACCCATCTCTCACTGGGGATGTGCTGCTCCCACGGCCACCCTTCTGGCTTCCTCCTTCTCAGTGACTGTGGTGCAACT... |
Task1_train_20726 | Mutation context: Chromosome 15, Gene FBN1 (fibrillin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Marfan syndrome | CTGGGGATGTGCTGCTCCCACGGCCACCCTTCTGGCTTCCTCCTTCTCAGTGACTGTGGTGCAACTATCTGCACTATTCATTTGATATTTAGTTATATATACCAAGTAAGTGGAAGAATTTGAACCTTATGGGAAAAAACAGGAAAAGGGACAAGTTGTGAGTGGACATGTAAAAATTACAGTTGCTCTTTGCACTCCTAAAGCCATAAAGAGAACTTTATTGATGCATTTTCATTTTTCATCTTTTAATTGCTGGAAACTTTTGAGAATTTTCTGCCCCCAGAGGTTAGAAAAAATGCTATAAATTTGTTTTGCTTGTT... | CTGGGGATGTGCTGCTCCCACGGCCACCCTTCTGGCTTCCTCCTTCTCAGTGACTGTGGTGCAACTATCTGCACTATTCATTTGATATTTAGTTATATATACCAAGTAAGTGGAAGAATTTGAACCTTATGGGAAAAAACAGGAAAAGGGACAAGTTGTGAGTGGACATGTAAAAATTACAGTTGCTCTTTGCACTCCTAAAGCCATAAAGAGAACTTTATTGATGCATTTTCATTTTTCATCTTTTAATTGCTGGAAACTTTTGAGAATTTTCTGCCCCCAGAGGTTAGAAAAAATGCTATAAATTTGTTTTGCTTGTT... |
Task1_train_20727 | Here is a mutation in FBN1 (fibrillin 1) on Chromosome 15. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Marfan syndrome | CTGGGGATGTGCTGCTCCCACGGCCACCCTTCTGGCTTCCTCCTTCTCAGTGACTGTGGTGCAACTATCTGCACTATTCATTTGATATTTAGTTATATATACCAAGTAAGTGGAAGAATTTGAACCTTATGGGAAAAAACAGGAAAAGGGACAAGTTGTGAGTGGACATGTAAAAATTACAGTTGCTCTTTGCACTCCTAAAGCCATAAAGAGAACTTTATTGATGCATTTTCATTTTTCATCTTTTAATTGCTGGAAACTTTTGAGAATTTTCTGCCCCCAGAGGTTAGAAAAAATGCTATAAATTTGTTTTGCTTGTT... | CTGGGGATGTGCTGCTCCCACGGCCACCCTTCTGGCTTCCTCCTTCTCAGTGACTGTGGTGCAACTATCTGCACTATTCATTTGATATTTAGTTATATATACCAAGTAAGTGGAAGAATTTGAACCTTATGGGAAAAAACAGGAAAAGGGACAAGTTGTGAGTGGACATGTAAAAATTACAGTTGCTCTTTGCACTCCTAAAGCCATAAAGAGAACTTTATTGATGCATTTTCATTTTTCATCTTTTAATTGCTGGAAACTTTTGAGAATTTTCTGCCCCCAGAGGTTAGAAAAAATGCTATAAATTTGTTTTGCTTGTT... |
Task1_train_20728 | A mutation in FBN1 (fibrillin 1), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CTGGGGATGTGCTGCTCCCACGGCCACCCTTCTGGCTTCCTCCTTCTCAGTGACTGTGGTGCAACTATCTGCACTATTCATTTGATATTTAGTTATATATACCAAGTAAGTGGAAGAATTTGAACCTTATGGGAAAAAACAGGAAAAGGGACAAGTTGTGAGTGGACATGTAAAAATTACAGTTGCTCTTTGCACTCCTAAAGCCATAAAGAGAACTTTATTGATGCATTTTCATTTTTCATCTTTTAATTGCTGGAAACTTTTGAGAATTTTCTGCCCCCAGAGGTTAGAAAAAATGCTATAAATTTGTTTTGCTTGTT... | CTGGGGATGTGCTGCTCCCACGGCCACCCTTCTGGCTTCCTCCTTCTCAGTGACTGTGGTGCAACTATCTGCACTATTCATTTGATATTTAGTTATATATACCAAGTAAGTGGAAGAATTTGAACCTTATGGGAAAAAACAGGAAAAGGGACAAGTTGTGAGTGGACATGTAAAAATTACAGTTGCTCTTTGCACTCCTAAAGCCATAAAGAGAACTTTATTGATGCATTTTCATTTTTCATCTTTTAATTGCTGGAAACTTTTGAGAATTTTCTGCCCCCAGAGGTTAGAAAAAATGCTATAAATTTGTTTTGCTTGTT... |
Task1_train_20729 | This is a variant in FBN1 (fibrillin 1), located on Chromosome 15. Is this mutation a likely cause of disease or not? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | ATTTAGTTATATATACCAAGTAAGTGGAAGAATTTGAACCTTATGGGAAAAAACAGGAAAAGGGACAAGTTGTGAGTGGACATGTAAAAATTACAGTTGCTCTTTGCACTCCTAAAGCCATAAAGAGAACTTTATTGATGCATTTTCATTTTTCATCTTTTAATTGCTGGAAACTTTTGAGAATTTTCTGCCCCCAGAGGTTAGAAAAAATGCTATAAATTTGTTTTGCTTGTTACAGATAATATATACAATGAGAGATATTTTCCCCTTGAATTTGGTTCTTCATTTATATGAATAAATTTATGGCTCTGAGTTATAGC... | ATTTAGTTATATATACCAAGTAAGTGGAAGAATTTGAACCTTATGGGAAAAAACAGGAAAAGGGACAAGTTGTGAGTGGACATGTAAAAATTACAGTTGCTCTTTGCACTCCTAAAGCCATAAAGAGAACTTTATTGATGCATTTTCATTTTTCATCTTTTAATTGCTGGAAACTTTTGAGAATTTTCTGCCCCCAGAGGTTAGAAAAAATGCTATAAATTTGTTTTGCTTGTTACAGATAATATATACAATGAGAGATATTTTCCCCTTGAATTTGGTTCTTCATTTATATGAATAAATTTATGGCTCTGAGTTATAGC... |
Task1_train_20730 | Gene FBN1 (fibrillin 1) on Chromosome 15 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Marfan syndrome | ATTTAGTTATATATACCAAGTAAGTGGAAGAATTTGAACCTTATGGGAAAAAACAGGAAAAGGGACAAGTTGTGAGTGGACATGTAAAAATTACAGTTGCTCTTTGCACTCCTAAAGCCATAAAGAGAACTTTATTGATGCATTTTCATTTTTCATCTTTTAATTGCTGGAAACTTTTGAGAATTTTCTGCCCCCAGAGGTTAGAAAAAATGCTATAAATTTGTTTTGCTTGTTACAGATAATATATACAATGAGAGATATTTTCCCCTTGAATTTGGTTCTTCATTTATATGAATAAATTTATGGCTCTGAGTTATAGC... | ATTTAGTTATATATACCAAGTAAGTGGAAGAATTTGAACCTTATGGGAAAAAACAGGAAAAGGGACAAGTTGTGAGTGGACATGTAAAAATTACAGTTGCTCTTTGCACTCCTAAAGCCATAAAGAGAACTTTATTGATGCATTTTCATTTTTCATCTTTTAATTGCTGGAAACTTTTGAGAATTTTCTGCCCCCAGAGGTTAGAAAAAATGCTATAAATTTGTTTTGCTTGTTACAGATAATATATACAATGAGAGATATTTTCCCCTTGAATTTGGTTCTTCATTTATATGAATAAATTTATGGCTCTGAGTTATAGC... |
Task1_train_20731 | With a mutation on Chromosome 15 in gene FBN1 (fibrillin 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Marfan syndrome | TTTCCTATGAAACTGCACAGACTTTTTAGATTTTTAGCTTTGGGTTTTTTTTTTTCCATAATCTAAAATTTCCACTTGAGGATAAGCCATCAGAAATAGACACTTACCTACACAGGAAGTCCCAGTTATATCTGGAGTGTACCCAGTTTTACAAATGCAATGATATGATCCTCTGTCATTGACACATTCCCCATTTCGGCAAACATCGTGAATAACCTTGCATTCATCGATATCTGTAATTTAACAAATATAAATTAAGAAATATATCATAAAATTGACAACATTAATATGTAGGGGGTCACTTCAGTGTAAATACTAAT... | TTTCCTATGAAACTGCACAGACTTTTTAGATTTTTAGCTTTGGGTTTTTTTTTTTCCATAATCTAAAATTTCCACTTGAGGATAAGCCATCAGAAATAGACACTTACCTACACAGGAAGTCCCAGTTATATCTGGAGTGTACCCAGTTTTACAAATGCAATGATATGATCCTCTGTCATTGACACATTCCCCATTTCGGCAAACATCGTGAATAACCTTGCATTCATCGATATCTGTAATTTAACAAATATAAATTAAGAAATATATCATAAAATTGACAACATTAATATGTAGGGGGTCACTTCAGTGTAAATACTAAT... |
Task1_train_20732 | The gene FBN1 (fibrillin 1), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TTTCCTATGAAACTGCACAGACTTTTTAGATTTTTAGCTTTGGGTTTTTTTTTTTCCATAATCTAAAATTTCCACTTGAGGATAAGCCATCAGAAATAGACACTTACCTACACAGGAAGTCCCAGTTATATCTGGAGTGTACCCAGTTTTACAAATGCAATGATATGATCCTCTGTCATTGACACATTCCCCATTTCGGCAAACATCGTGAATAACCTTGCATTCATCGATATCTGTAATTTAACAAATATAAATTAAGAAATATATCATAAAATTGACAACATTAATATGTAGGGGGTCACTTCAGTGTAAATACTAAT... | TTTCCTATGAAACTGCACAGACTTTTTAGATTTTTAGCTTTGGGTTTTTTTTTTTCCATAATCTAAAATTTCCACTTGAGGATAAGCCATCAGAAATAGACACTTACCTACACAGGAAGTCCCAGTTATATCTGGAGTGTACCCAGTTTTACAAATGCAATGATATGATCCTCTGTCATTGACACATTCCCCATTTCGGCAAACATCGTGAATAACCTTGCATTCATCGATATCTGTAATTTAACAAATATAAATTAAGAAATATATCATAAAATTGACAACATTAATATGTAGGGGGTCACTTCAGTGTAAATACTAAT... |
Task1_train_20733 | This gene mutation involves FBN1 (fibrillin 1) on Chromosome 15. Is it associated with any clinical condition, or is it benign? | Pathogenic; Marfan syndrome | TCTTTGTGGTTAATCCTGAAAAAGTTCAAATTACATAATATTGGGGAAATGAGATGAACTTCTGTCCTCTGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTT... | TCTTTGTGGTTAATCCTGAAAAAGTTCAAATTACATAATATTGGGGAAATGAGATGAACTTCTGTCCTCTGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTT... |
Task1_train_20734 | This sequence change occurs on Chromosome 15, altering FBN1 (fibrillin 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TCTTTGTGGTTAATCCTGAAAAAGTTCAAATTACATAATATTGGGGAAATGAGATGAACTTCTGTCCTCTGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTT... | TCTTTGTGGTTAATCCTGAAAAAGTTCAAATTACATAATATTGGGGAAATGAGATGAACTTCTGTCCTCTGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTT... |
Task1_train_20735 | Located on Chromosome 15, this mutation impacts FBN1 (fibrillin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Marfan syndrome | CTTTGTGGTTAATCCTGAAAAAGTTCAAATTACATAATATTGGGGAAATGAGATGAACTTCTGTCCTCTGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTA... | CTTTGTGGTTAATCCTGAAAAAGTTCAAATTACATAATATTGGGGAAATGAGATGAACTTCTGTCCTCTGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTA... |
Task1_train_20736 | Here is a genetic alteration in FBN1 (fibrillin 1) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Marfan syndrome | CTTTGTGGTTAATCCTGAAAAAGTTCAAATTACATAATATTGGGGAAATGAGATGAACTTCTGTCCTCTGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTA... | CTTTGTGGTTAATCCTGAAAAAGTTCAAATTACATAATATTGGGGAAATGAGATGAACTTCTGTCCTCTGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTA... |
Task1_train_20737 | An alteration has been detected in FBN1 (fibrillin 1) on Chromosome 15. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CTTTGTGGTTAATCCTGAAAAAGTTCAAATTACATAATATTGGGGAAATGAGATGAACTTCTGTCCTCTGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTA... | CTTTGTGGTTAATCCTGAAAAAGTTCAAATTACATAATATTGGGGAAATGAGATGAACTTCTGTCCTCTGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTA... |
Task1_train_20738 | Mutation context: Chromosome 15, Gene FBN1 (fibrillin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Marfan syndrome | TGGTTAATCCTGAAAAAGTTCAAATTACATAATATTGGGGAAATGAGATGAACTTCTGTCCTCTGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTATACCA... | TGGTTAATCCTGAAAAAGTTCAAATTACATAATATTGGGGAAATGAGATGAACTTCTGTCCTCTGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTATACCA... |
Task1_train_20739 | The gene FBN1 (fibrillin 1) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Marfan syndrome | CATAATATTGGGGAAATGAGATGAACTTCTGTCCTCTGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTATACCAACAGCTGGGTGTATCTGACCTTTACAA... | CATAATATTGGGGAAATGAGATGAACTTCTGTCCTCTGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTATACCAACAGCTGGGTGTATCTGACCTTTACAA... |
Task1_train_20740 | This sequence variant lies in FBN1 (fibrillin 1) on Chromosome 15. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Marfan syndrome, mild variable | CATAATATTGGGGAAATGAGATGAACTTCTGTCCTCTGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTATACCAACAGCTGGGTGTATCTGACCTTTACAA... | CATAATATTGGGGAAATGAGATGAACTTCTGTCCTCTGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTATACCAACAGCTGGGTGTATCTGACCTTTACAA... |
Task1_train_20741 | With a mutation on Chromosome 15 in gene FBN1 (fibrillin 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | ATGAGATGAACTTCTGTCCTCTGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTATACCAACAGCTGGGTGTATCTGACCTTTACAAGTCTACTCTGAAGTG... | ATGAGATGAACTTCTGTCCTCTGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTATACCAACAGCTGGGTGTATCTGACCTTTACAAGTCTACTCTGAAGTG... |
Task1_train_20742 | A variant was discovered in gene FBN1 (fibrillin 1), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Marfan syndrome | ATGAGATGAACTTCTGTCCTCTGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTATACCAACAGCTGGGTGTATCTGACCTTTACAAGTCTACTCTGAAGTG... | ATGAGATGAACTTCTGTCCTCTGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTATACCAACAGCTGGGTGTATCTGACCTTTACAAGTCTACTCTGAAGTG... |
Task1_train_20743 | A variant affecting Chromosome 15, within the gene FBN1 (fibrillin 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTATACCAACAGCTGGGTGTATCTGACCTTTACAAGTCTACTCTGAAGTGCAATTTAGCACACTCTTATTG... | TGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTATACCAACAGCTGGGTGTATCTGACCTTTACAAGTCTACTCTGAAGTGCAATTTAGCACACTCTTATTG... |
Task1_train_20744 | Here is a genetic alteration in FBN1 (fibrillin 1) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Marfan syndrome | TGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTATACCAACAGCTGGGTGTATCTGACCTTTACAAGTCTACTCTGAAGTGCAATTTAGCACACTCTTATTG... | TGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTATACCAACAGCTGGGTGTATCTGACCTTTACAAGTCTACTCTGAAGTGCAATTTAGCACACTCTTATTG... |
Task1_train_20745 | Here is a mutation in FBN1 (fibrillin 1) on Chromosome 15. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Marfan syndrome | TGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTATACCAACAGCTGGGTGTATCTGACCTTTACAAGTCTACTCTGAAGTGCAATTTAGCACACTCTTATTG... | TGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTATACCAACAGCTGGGTGTATCTGACCTTTACAAGTCTACTCTGAAGTGCAATTTAGCACACTCTTATTG... |
Task1_train_20746 | Given a variant located on Chromosome 15 and affecting FBN1 (fibrillin 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTATACCAACAGCTGGGTGTATCTGACCTTTACAAGTCTACTCTGAAGTGCAATTTAGCACACTCTTATTG... | TGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTATACCAACAGCTGGGTGTATCTGACCTTTACAAGTCTACTCTGAAGTGCAATTTAGCACACTCTTATTG... |
Task1_train_20747 | This variant impacts the gene FBN1 (fibrillin 1) on Chromosome 15. Is the change likely to result in a pathogenic outcome? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTATACCAACAGCTGGGTGTATCTGACCTTTACAAGTCTACTCTGAAGTGCAATTTAGCACACTCTTATTGG... | GGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTATACCAACAGCTGGGTGTATCTGACCTTTACAAGTCTACTCTGAAGTGCAATTTAGCACACTCTTATTGG... |
Task1_train_20748 | The gene FBN1 (fibrillin 1), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Marfan syndrome | GGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTATACCAACAGCTGGGTGTATCTGACCTTTACAAGTCTACTCTGAAGTGCAATTTAGCACACTCTTATTGG... | GGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTATACCAACAGCTGGGTGTATCTGACCTTTACAAGTCTACTCTGAAGTGCAATTTAGCACACTCTTATTGG... |
Task1_train_20749 | This alteration occurs within gene FBN1 (fibrillin 1) located on Chromosome 15. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | CCTTCCTTCCCTCTCTCACATCTTTCCTTCTTAACTTAGCTTTTGAATCACTAATCTGTTCACATGGCTCAAAATTTAAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAA... | CCTTCCTTCCCTCTCTCACATCTTTCCTTCTTAACTTAGCTTTTGAATCACTAATCTGTTCACATGGCTCAAAATTTAAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAA... |
Task1_train_20750 | Chromosome 15 houses a mutation in gene FBN1 (fibrillin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Marfan syndrome | CTTCCCTCTCTCACATCTTTCCTTCTTAACTTAGCTTTTGAATCACTAATCTGTTCACATGGCTCAAAATTTAAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTG... | CTTCCCTCTCTCACATCTTTCCTTCTTAACTTAGCTTTTGAATCACTAATCTGTTCACATGGCTCAAAATTTAAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTG... |
Task1_train_20751 | Chromosome 15 houses a mutation in gene FBN1 (fibrillin 1). 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 | CTTCCCTCTCTCACATCTTTCCTTCTTAACTTAGCTTTTGAATCACTAATCTGTTCACATGGCTCAAAATTTAAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTG... | CTTCCCTCTCTCACATCTTTCCTTCTTAACTTAGCTTTTGAATCACTAATCTGTTCACATGGCTCAAAATTTAAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTG... |
Task1_train_20752 | An alteration has been detected in FBN1 (fibrillin 1) on Chromosome 15. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections | GAATCACTAATCTGTTCACATGGCTCAAAATTTAAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATG... | GAATCACTAATCTGTTCACATGGCTCAAAATTTAAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATG... |
Task1_train_20753 | A sequence alteration has been identified in FBN1 (fibrillin 1) on Chromosome 15. Is it disease-inducing or harmless? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GGCTCAAAATTTAAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATAC... | GGCTCAAAATTTAAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATAC... |
Task1_train_20754 | A variant affecting Chromosome 15, within the gene FBN1 (fibrillin 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Marfan syndrome | GGCTCAAAATTTAAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATAC... | GGCTCAAAATTTAAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATAC... |
Task1_train_20755 | A variant was discovered on Chromosome 15, affecting FBN1 (fibrillin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Dolichocephaly | AAATTTAAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATA... | AAATTTAAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATA... |
Task1_train_20756 | This mutation occurs in FBN1 (fibrillin 1) on Chromosome 15. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Pes planus | AAATTTAAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATA... | AAATTTAAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATA... |
Task1_train_20757 | Here is a mutation in FBN1 (fibrillin 1) on Chromosome 15. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Mitral valve prolapse | AAATTTAAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATA... | AAATTTAAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATA... |
Task1_train_20758 | Given this context: Chromosome 15, gene FBN1 (fibrillin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Scoliosis | AAATTTAAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATA... | AAATTTAAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATA... |
Task1_train_20759 | Located on Chromosome 15, this mutation impacts FBN1 (fibrillin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; High palate | AAATTTAAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATA... | AAATTTAAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATA... |
Task1_train_20760 | A mutation in FBN1 (fibrillin 1), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Myopia | AAATTTAAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATA... | AAATTTAAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATA... |
Task1_train_20761 | Located on Chromosome 15, this mutation impacts FBN1 (fibrillin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Dilatation of the ascending aorta | AAATTTAAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATA... | AAATTTAAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATA... |
Task1_train_20762 | With a mutation on Chromosome 15 in gene FBN1 (fibrillin 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Marfan syndrome | AAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATATGTGTA... | AAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATATGTGTA... |
Task1_train_20763 | Gene FBN1 (fibrillin 1) on Chromosome 15 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATATGTGTA... | AAAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATATGTGTA... |
Task1_train_20764 | A variant was discovered in gene FBN1 (fibrillin 1), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Marfan syndrome | AAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATATGTGTAT... | AAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATATGTGTAT... |
Task1_train_20765 | This variant impacts the gene FBN1 (fibrillin 1) on Chromosome 15. Is the change likely to result in a pathogenic outcome? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATATGTGTAT... | AAAGGTATAAAAGAGACTTCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATATGTGTAT... |
Task1_train_20766 | Chromosome 15 houses a mutation in gene FBN1 (fibrillin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Marfan syndrome | ATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATATGTGTATGTGTGTGTGCACTTCAGATCT... | ATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATATGTGTATGTGTGTGTGCACTTCAGATCT... |
Task1_train_20767 | Chromosome 15 houses a mutation in gene FBN1 (fibrillin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Marfan syndrome | ATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATATGTGTATGTGTGTGTGCACTTCAGATCT... | ATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATATGTGTATGTGTGTGTGCACTTCAGATCT... |
Task1_train_20768 | Given this variant in gene FBN1 (fibrillin 1) on Chromosome 15, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | ATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATATGTGTATGTGTGTGTGCACTTCAGATCT... | ATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATATGTGTATGTGTGTGTGCACTTCAGATCT... |
Task1_train_20769 | The variant affects gene FBN1 (fibrillin 1), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Marfan syndrome | CAAATTTGTCAAAGAAAATGCATATATCTGCCTTAATTACCTGACTTTTAAACATAAAATGTTAGTAAGTAACCAATTTTCATCTGTTATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAG... | CAAATTTGTCAAAGAAAATGCATATATCTGCCTTAATTACCTGACTTTTAAACATAAAATGTTAGTAAGTAACCAATTTTCATCTGTTATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAG... |
Task1_train_20770 | This sequence variant lies in FBN1 (fibrillin 1) on Chromosome 15. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CAAATTTGTCAAAGAAAATGCATATATCTGCCTTAATTACCTGACTTTTAAACATAAAATGTTAGTAAGTAACCAATTTTCATCTGTTATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAG... | CAAATTTGTCAAAGAAAATGCATATATCTGCCTTAATTACCTGACTTTTAAACATAAAATGTTAGTAAGTAACCAATTTTCATCTGTTATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAG... |
Task1_train_20771 | This variant affects gene FBN1 (fibrillin 1) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AAATTTGTCAAAGAAAATGCATATATCTGCCTTAATTACCTGACTTTTAAACATAAAATGTTAGTAAGTAACCAATTTTCATCTGTTATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAGG... | AAATTTGTCAAAGAAAATGCATATATCTGCCTTAATTACCTGACTTTTAAACATAAAATGTTAGTAAGTAACCAATTTTCATCTGTTATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAGG... |
Task1_train_20772 | A variant was discovered on Chromosome 15, affecting FBN1 (fibrillin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Marfan syndrome | CCTGACTTTTAAACATAAAATGTTAGTAAGTAACCAATTTTCATCTGTTATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCGATCTCAGCTCACTTCAACCT... | CCTGACTTTTAAACATAAAATGTTAGTAAGTAACCAATTTTCATCTGTTATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCGATCTCAGCTCACTTCAACCT... |
Task1_train_20773 | This alteration occurs within gene FBN1 (fibrillin 1) located on Chromosome 15. Is it associated with a disease or is it a benign variant? | Pathogenic; Marfan syndrome | CCTGACTTTTAAACATAAAATGTTAGTAAGTAACCAATTTTCATCTGTTATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCGATCTCAGCTCACTTCAACCT... | CCTGACTTTTAAACATAAAATGTTAGTAAGTAACCAATTTTCATCTGTTATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCGATCTCAGCTCACTTCAACCT... |
Task1_train_20774 | A variant has been detected on Chromosome 15 in FBN1 (fibrillin 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CCTGACTTTTAAACATAAAATGTTAGTAAGTAACCAATTTTCATCTGTTATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCGATCTCAGCTCACTTCAACCT... | CCTGACTTTTAAACATAAAATGTTAGTAAGTAACCAATTTTCATCTGTTATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCGATCTCAGCTCACTTCAACCT... |
Task1_train_20775 | This variant affects gene FBN1 (fibrillin 1) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Marfan syndrome | ACCAATTTTCATCTGTTATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCGATCTCAGCTCACTTCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCATACCT... | ACCAATTTTCATCTGTTATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCGATCTCAGCTCACTTCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCATACCT... |
Task1_train_20776 | This sequence variant lies in FBN1 (fibrillin 1) on Chromosome 15. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | ACCAATTTTCATCTGTTATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCGATCTCAGCTCACTTCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCATACCT... | ACCAATTTTCATCTGTTATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCGATCTCAGCTCACTTCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCATACCT... |
Task1_train_20777 | A variant was discovered on Chromosome 15, affecting FBN1 (fibrillin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Marfan syndrome | CCAATTTTCATCTGTTATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCGATCTCAGCTCACTTCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCATACCTC... | CCAATTTTCATCTGTTATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCGATCTCAGCTCACTTCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCATACCTC... |
Task1_train_20778 | The gene FBN1 (fibrillin 1), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Marfan syndrome | CCAATTTTCATCTGTTATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCGATCTCAGCTCACTTCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCATACCTC... | CCAATTTTCATCTGTTATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCGATCTCAGCTCACTTCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCATACCTC... |
Task1_train_20779 | This variant impacts the gene FBN1 (fibrillin 1) on Chromosome 15. Is the change likely to result in a pathogenic outcome? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CAATTTTCATCTGTTATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCGATCTCAGCTCACTTCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCATACCTCA... | CAATTTTCATCTGTTATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCGATCTCAGCTCACTTCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCATACCTCA... |
Task1_train_20780 | Here is a variant affecting FBN1 (fibrillin 1) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Marfan syndrome | CAATTTTCATCTGTTATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCGATCTCAGCTCACTTCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCATACCTCA... | CAATTTTCATCTGTTATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCGATCTCAGCTCACTTCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCATACCTCA... |
Task1_train_20781 | A mutation on Chromosome 15 affecting FBN1 (fibrillin 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | GTTATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCGATCTCAGCTCACTTCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCATACCTCAGTCTCCCAAGTA... | GTTATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCGATCTCAGCTCACTTCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCATACCTCAGTCTCCCAAGTA... |
Task1_train_20782 | Given this context: Chromosome 15, gene FBN1 (fibrillin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TTCATATTGGGTTTTTTGAACGTGGGGAAATGTCTTTTTCTTTCTATTCCCATATCTTGTAGAAATACTGGCGTGTTGTGAGCATGCGATGCACAGTGAGACCTAATAAAGGATGTGCAGTGCAGTCCTCAACTTGGCTTGATGATGCTTCCAGCTACAATTTAGGGGGAAACGTGGCAGTGACAACCCCCGTATTGTCCACGGACTATTTATATTCCAATTCCCAGCCTTCTCCTACTAAGGGAAGCTTTGAGGGACATCTCCCCTCACAGATAAAGCTTCCTGGCTTAGATGACCTTGAACACGATGACTCACCTTTG... | TTCATATTGGGTTTTTTGAACGTGGGGAAATGTCTTTTTCTTTCTATTCCCATATCTTGTAGAAATACTGGCGTGTTGTGAGCATGCGATGCACAGTGAGACCTAATAAAGGATGTGCAGTGCAGTCCTCAACTTGGCTTGATGATGCTTCCAGCTACAATTTAGGGGGAAACGTGGCAGTGACAACCCCCGTATTGTCCACGGACTATTTATATTCCAATTCCCAGCCTTCTCCTACTAAGGGAAGCTTTGAGGGACATCTCCCCTCACAGATAAAGCTTCCTGGCTTAGATGACCTTGAACACGATGACTCACCTTTG... |
Task1_train_20783 | A variant has been detected on Chromosome 15 in FBN1 (fibrillin 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Marfan syndrome | AAATGTCTTTTTCTTTCTATTCCCATATCTTGTAGAAATACTGGCGTGTTGTGAGCATGCGATGCACAGTGAGACCTAATAAAGGATGTGCAGTGCAGTCCTCAACTTGGCTTGATGATGCTTCCAGCTACAATTTAGGGGGAAACGTGGCAGTGACAACCCCCGTATTGTCCACGGACTATTTATATTCCAATTCCCAGCCTTCTCCTACTAAGGGAAGCTTTGAGGGACATCTCCCCTCACAGATAAAGCTTCCTGGCTTAGATGACCTTGAACACGATGACTCACCTTTGCACATCCTACGGTCTTCTCTGAGCACA... | AAATGTCTTTTTCTTTCTATTCCCATATCTTGTAGAAATACTGGCGTGTTGTGAGCATGCGATGCACAGTGAGACCTAATAAAGGATGTGCAGTGCAGTCCTCAACTTGGCTTGATGATGCTTCCAGCTACAATTTAGGGGGAAACGTGGCAGTGACAACCCCCGTATTGTCCACGGACTATTTATATTCCAATTCCCAGCCTTCTCCTACTAAGGGAAGCTTTGAGGGACATCTCCCCTCACAGATAAAGCTTCCTGGCTTAGATGACCTTGAACACGATGACTCACCTTTGCACATCCTACGGTCTTCTCTGAGCACA... |
Task1_train_20784 | Gene FBN1 (fibrillin 1), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AAATGTCTTTTTCTTTCTATTCCCATATCTTGTAGAAATACTGGCGTGTTGTGAGCATGCGATGCACAGTGAGACCTAATAAAGGATGTGCAGTGCAGTCCTCAACTTGGCTTGATGATGCTTCCAGCTACAATTTAGGGGGAAACGTGGCAGTGACAACCCCCGTATTGTCCACGGACTATTTATATTCCAATTCCCAGCCTTCTCCTACTAAGGGAAGCTTTGAGGGACATCTCCCCTCACAGATAAAGCTTCCTGGCTTAGATGACCTTGAACACGATGACTCACCTTTGCACATCCTACGGTCTTCTCTGAGCACA... | AAATGTCTTTTTCTTTCTATTCCCATATCTTGTAGAAATACTGGCGTGTTGTGAGCATGCGATGCACAGTGAGACCTAATAAAGGATGTGCAGTGCAGTCCTCAACTTGGCTTGATGATGCTTCCAGCTACAATTTAGGGGGAAACGTGGCAGTGACAACCCCCGTATTGTCCACGGACTATTTATATTCCAATTCCCAGCCTTCTCCTACTAAGGGAAGCTTTGAGGGACATCTCCCCTCACAGATAAAGCTTCCTGGCTTAGATGACCTTGAACACGATGACTCACCTTTGCACATCCTACGGTCTTCTCTGAGCACA... |
Task1_train_20785 | This variant lies on Chromosome 15 and affects the gene FBN1 (fibrillin 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; See cases | TCAGGTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAAGCAATCTGCCCACCTCGGCATCCCAAAGTGCTGAGATTAAAGGTGTGAGCCACCAAGCCCAGCCTGATCTGTAATGTTTAATTCTCATTCTGTTCTTGCAAAAAGGGAGTGTGCATGTCTTATTATCTCAGGTTTATAGCCGTGAAATTCGACTTGCTCAGTGGCAGTGGCAATGACAGTGAGAATGACAGTGCCTGGACATATAGCCCTTACAGTGCTCTTCTCCATGAGTTTCTCCAGCCT... | TCAGGTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAAGCAATCTGCCCACCTCGGCATCCCAAAGTGCTGAGATTAAAGGTGTGAGCCACCAAGCCCAGCCTGATCTGTAATGTTTAATTCTCATTCTGTTCTTGCAAAAAGGGAGTGTGCATGTCTTATTATCTCAGGTTTATAGCCGTGAAATTCGACTTGCTCAGTGGCAGTGGCAATGACAGTGAGAATGACAGTGCCTGGACATATAGCCCTTACAGTGCTCTTCTCCATGAGTTTCTCCAGCCT... |
Task1_train_20786 | This variant impacts the gene FBN1 (fibrillin 1) on Chromosome 15. Is the change likely to result in a pathogenic outcome? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CAGGTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAAGCAATCTGCCCACCTCGGCATCCCAAAGTGCTGAGATTAAAGGTGTGAGCCACCAAGCCCAGCCTGATCTGTAATGTTTAATTCTCATTCTGTTCTTGCAAAAAGGGAGTGTGCATGTCTTATTATCTCAGGTTTATAGCCGTGAAATTCGACTTGCTCAGTGGCAGTGGCAATGACAGTGAGAATGACAGTGCCTGGACATATAGCCCTTACAGTGCTCTTCTCCATGAGTTTCTCCAGCCTC... | CAGGTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAAGCAATCTGCCCACCTCGGCATCCCAAAGTGCTGAGATTAAAGGTGTGAGCCACCAAGCCCAGCCTGATCTGTAATGTTTAATTCTCATTCTGTTCTTGCAAAAAGGGAGTGTGCATGTCTTATTATCTCAGGTTTATAGCCGTGAAATTCGACTTGCTCAGTGGCAGTGGCAATGACAGTGAGAATGACAGTGCCTGGACATATAGCCCTTACAGTGCTCTTCTCCATGAGTTTCTCCAGCCTC... |
Task1_train_20787 | Here is a mutation in FBN1 (fibrillin 1) on Chromosome 15. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Marfan syndrome | CAGGTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAAGCAATCTGCCCACCTCGGCATCCCAAAGTGCTGAGATTAAAGGTGTGAGCCACCAAGCCCAGCCTGATCTGTAATGTTTAATTCTCATTCTGTTCTTGCAAAAAGGGAGTGTGCATGTCTTATTATCTCAGGTTTATAGCCGTGAAATTCGACTTGCTCAGTGGCAGTGGCAATGACAGTGAGAATGACAGTGCCTGGACATATAGCCCTTACAGTGCTCTTCTCCATGAGTTTCTCCAGCCTC... | CAGGTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAAGCAATCTGCCCACCTCGGCATCCCAAAGTGCTGAGATTAAAGGTGTGAGCCACCAAGCCCAGCCTGATCTGTAATGTTTAATTCTCATTCTGTTCTTGCAAAAAGGGAGTGTGCATGTCTTATTATCTCAGGTTTATAGCCGTGAAATTCGACTTGCTCAGTGGCAGTGGCAATGACAGTGAGAATGACAGTGCCTGGACATATAGCCCTTACAGTGCTCTTCTCCATGAGTTTCTCCAGCCTC... |
Task1_train_20788 | This sequence variant lies in FBN1 (fibrillin 1) on Chromosome 15. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Marfan syndrome | AGGTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAAGCAATCTGCCCACCTCGGCATCCCAAAGTGCTGAGATTAAAGGTGTGAGCCACCAAGCCCAGCCTGATCTGTAATGTTTAATTCTCATTCTGTTCTTGCAAAAAGGGAGTGTGCATGTCTTATTATCTCAGGTTTATAGCCGTGAAATTCGACTTGCTCAGTGGCAGTGGCAATGACAGTGAGAATGACAGTGCCTGGACATATAGCCCTTACAGTGCTCTTCTCCATGAGTTTCTCCAGCCTCC... | AGGTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAAGCAATCTGCCCACCTCGGCATCCCAAAGTGCTGAGATTAAAGGTGTGAGCCACCAAGCCCAGCCTGATCTGTAATGTTTAATTCTCATTCTGTTCTTGCAAAAAGGGAGTGTGCATGTCTTATTATCTCAGGTTTATAGCCGTGAAATTCGACTTGCTCAGTGGCAGTGGCAATGACAGTGAGAATGACAGTGCCTGGACATATAGCCCTTACAGTGCTCTTCTCCATGAGTTTCTCCAGCCTCC... |
Task1_train_20789 | A variant was discovered in gene FBN1 (fibrillin 1), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AGGTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAAGCAATCTGCCCACCTCGGCATCCCAAAGTGCTGAGATTAAAGGTGTGAGCCACCAAGCCCAGCCTGATCTGTAATGTTTAATTCTCATTCTGTTCTTGCAAAAAGGGAGTGTGCATGTCTTATTATCTCAGGTTTATAGCCGTGAAATTCGACTTGCTCAGTGGCAGTGGCAATGACAGTGAGAATGACAGTGCCTGGACATATAGCCCTTACAGTGCTCTTCTCCATGAGTTTCTCCAGCCTCC... | AGGTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAAGCAATCTGCCCACCTCGGCATCCCAAAGTGCTGAGATTAAAGGTGTGAGCCACCAAGCCCAGCCTGATCTGTAATGTTTAATTCTCATTCTGTTCTTGCAAAAAGGGAGTGTGCATGTCTTATTATCTCAGGTTTATAGCCGTGAAATTCGACTTGCTCAGTGGCAGTGGCAATGACAGTGAGAATGACAGTGCCTGGACATATAGCCCTTACAGTGCTCTTCTCCATGAGTTTCTCCAGCCTCC... |
Task1_train_20790 | Gene FBN1 (fibrillin 1), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Marfan syndrome | CAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAAGCAATCTGCCCACCTCGGCATCCCAAAGTGCTGAGATTAAAGGTGTGAGCCACCAAGCCCAGCCTGATCTGTAATGTTTAATTCTCATTCTGTTCTTGCAAAAAGGGAGTGTGCATGTCTTATTATCTCAGGTTTATAGCCGTGAAATTCGACTTGCTCAGTGGCAGTGGCAATGACAGTGAGAATGACAGTGCCTGGACATATAGCCCTTACAGTGCTCTTCTCCATGAGTTTCTCCAGCCTCCCACATTATAAACTAAATCTTCTACTTG... | CAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAAGCAATCTGCCCACCTCGGCATCCCAAAGTGCTGAGATTAAAGGTGTGAGCCACCAAGCCCAGCCTGATCTGTAATGTTTAATTCTCATTCTGTTCTTGCAAAAAGGGAGTGTGCATGTCTTATTATCTCAGGTTTATAGCCGTGAAATTCGACTTGCTCAGTGGCAGTGGCAATGACAGTGAGAATGACAGTGCCTGGACATATAGCCCTTACAGTGCTCTTCTCCATGAGTTTCTCCAGCCTCCCACATTATAAACTAAATCTTCTACTTG... |
Task1_train_20791 | This alteration in FBN1 (fibrillin 1) on Chromosome 15 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAAGCAATCTGCCCACCTCGGCATCCCAAAGTGCTGAGATTAAAGGTGTGAGCCACCAAGCCCAGCCTGATCTGTAATGTTTAATTCTCATTCTGTTCTTGCAAAAAGGGAGTGTGCATGTCTTATTATCTCAGGTTTATAGCCGTGAAATTCGACTTGCTCAGTGGCAGTGGCAATGACAGTGAGAATGACAGTGCCTGGACATATAGCCCTTACAGTGCTCTTCTCCATGAGTTTCTCCAGCCTCCCACATTATAAACTAAATCTTCTACTTG... | CAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAAGCAATCTGCCCACCTCGGCATCCCAAAGTGCTGAGATTAAAGGTGTGAGCCACCAAGCCCAGCCTGATCTGTAATGTTTAATTCTCATTCTGTTCTTGCAAAAAGGGAGTGTGCATGTCTTATTATCTCAGGTTTATAGCCGTGAAATTCGACTTGCTCAGTGGCAGTGGCAATGACAGTGAGAATGACAGTGCCTGGACATATAGCCCTTACAGTGCTCTTCTCCATGAGTTTCTCCAGCCTCCCACATTATAAACTAAATCTTCTACTTG... |
Task1_train_20792 | Here is a variant affecting FBN1 (fibrillin 1) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Marfan syndrome | CAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAAGCAATCTGCCCACCTCGGCATCCCAAAGTGCTGAGATTAAAGGTGTGAGCCACCAAGCCCAGCCTGATCTGTAATGTTTAATTCTCATTCTGTTCTTGCAAAAAGGGAGTGTGCATGTCTTATTATCTCAGGTTTATAGCCGTGAAATTCGACTTGCTCAGTGGCAGTGGCAATGACAGTGAGAATGACAGTGCCTGGACATATAGCCCTTACAGTGCTCTTCTCCATGAGTTTCTCCAGCCTCCCACATTATAAACTAAATCTTCTACTTG... | CAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAAGCAATCTGCCCACCTCGGCATCCCAAAGTGCTGAGATTAAAGGTGTGAGCCACCAAGCCCAGCCTGATCTGTAATGTTTAATTCTCATTCTGTTCTTGCAAAAAGGGAGTGTGCATGTCTTATTATCTCAGGTTTATAGCCGTGAAATTCGACTTGCTCAGTGGCAGTGGCAATGACAGTGAGAATGACAGTGCCTGGACATATAGCCCTTACAGTGCTCTTCTCCATGAGTTTCTCCAGCCTCCCACATTATAAACTAAATCTTCTACTTG... |
Task1_train_20793 | Here is a genetic alteration in FBN1 (fibrillin 1) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAAGCAATCTGCCCACCTCGGCATCCCAAAGTGCTGAGATTAAAGGTGTGAGCCACCAAGCCCAGCCTGATCTGTAATGTTTAATTCTCATTCTGTTCTTGCAAAAAGGGAGTGTGCATGTCTTATTATCTCAGGTTTATAGCCGTGAAATTCGACTTGCTCAGTGGCAGTGGCAATGACAGTGAGAATGACAGTGCCTGGACATATAGCCCTTACAGTGCTCTTCTCCATGAGTTTCTCCAGCCTCCCACATTATAAACTAAATCTTCTACTTG... | CAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAAGCAATCTGCCCACCTCGGCATCCCAAAGTGCTGAGATTAAAGGTGTGAGCCACCAAGCCCAGCCTGATCTGTAATGTTTAATTCTCATTCTGTTCTTGCAAAAAGGGAGTGTGCATGTCTTATTATCTCAGGTTTATAGCCGTGAAATTCGACTTGCTCAGTGGCAGTGGCAATGACAGTGAGAATGACAGTGCCTGGACATATAGCCCTTACAGTGCTCTTCTCCATGAGTTTCTCCAGCCTCCCACATTATAAACTAAATCTTCTACTTG... |
Task1_train_20794 | A variant has been detected on Chromosome 15 in FBN1 (fibrillin 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAAGCAATCTGCCCACCTCGGCATCCCAAAGTGCTGAGATTAAAGGTGTGAGCCACCAAGCCCAGCCTGATCTGTAATGTTTAATTCTCATTCTGTTCTTGCAAAAAGGGAGTGTGCATGTCTTATTATCTCAGGTTTATAGCCGTGAAATTCGACTTGCTCAGTGGCAGTGGCAATGACAGTGAGAATGACAGTGCCTGGACATATAGCCCTTACAGTGCTCTTCTCCATGAGTTTCTCCAGCCTCCCACATTATAAACTAAATCTTCTACTTGGAGTAGATGCTCTA... | GTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAAGCAATCTGCCCACCTCGGCATCCCAAAGTGCTGAGATTAAAGGTGTGAGCCACCAAGCCCAGCCTGATCTGTAATGTTTAATTCTCATTCTGTTCTTGCAAAAAGGGAGTGTGCATGTCTTATTATCTCAGGTTTATAGCCGTGAAATTCGACTTGCTCAGTGGCAGTGGCAATGACAGTGAGAATGACAGTGCCTGGACATATAGCCCTTACAGTGCTCTTCTCCATGAGTTTCTCCAGCCTCCCACATTATAAACTAAATCTTCTACTTGGAGTAGATGCTCTA... |
Task1_train_20795 | Gene FBN1 (fibrillin 1) on Chromosome 15 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Marfan syndrome | AACTCTTGACCTCAAGCAATCTGCCCACCTCGGCATCCCAAAGTGCTGAGATTAAAGGTGTGAGCCACCAAGCCCAGCCTGATCTGTAATGTTTAATTCTCATTCTGTTCTTGCAAAAAGGGAGTGTGCATGTCTTATTATCTCAGGTTTATAGCCGTGAAATTCGACTTGCTCAGTGGCAGTGGCAATGACAGTGAGAATGACAGTGCCTGGACATATAGCCCTTACAGTGCTCTTCTCCATGAGTTTCTCCAGCCTCCCACATTATAAACTAAATCTTCTACTTGGAGTAGATGCTCTAAGGGTTAAAAAAAAAAAGG... | AACTCTTGACCTCAAGCAATCTGCCCACCTCGGCATCCCAAAGTGCTGAGATTAAAGGTGTGAGCCACCAAGCCCAGCCTGATCTGTAATGTTTAATTCTCATTCTGTTCTTGCAAAAAGGGAGTGTGCATGTCTTATTATCTCAGGTTTATAGCCGTGAAATTCGACTTGCTCAGTGGCAGTGGCAATGACAGTGAGAATGACAGTGCCTGGACATATAGCCCTTACAGTGCTCTTCTCCATGAGTTTCTCCAGCCTCCCACATTATAAACTAAATCTTCTACTTGGAGTAGATGCTCTAAGGGTTAAAAAAAAAAAGG... |
Task1_train_20796 | This genomic variant is located on Chromosome 15, within the FBN1 (fibrillin 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AACTCTTGACCTCAAGCAATCTGCCCACCTCGGCATCCCAAAGTGCTGAGATTAAAGGTGTGAGCCACCAAGCCCAGCCTGATCTGTAATGTTTAATTCTCATTCTGTTCTTGCAAAAAGGGAGTGTGCATGTCTTATTATCTCAGGTTTATAGCCGTGAAATTCGACTTGCTCAGTGGCAGTGGCAATGACAGTGAGAATGACAGTGCCTGGACATATAGCCCTTACAGTGCTCTTCTCCATGAGTTTCTCCAGCCTCCCACATTATAAACTAAATCTTCTACTTGGAGTAGATGCTCTAAGGGTTAAAAAAAAAAAGG... | AACTCTTGACCTCAAGCAATCTGCCCACCTCGGCATCCCAAAGTGCTGAGATTAAAGGTGTGAGCCACCAAGCCCAGCCTGATCTGTAATGTTTAATTCTCATTCTGTTCTTGCAAAAAGGGAGTGTGCATGTCTTATTATCTCAGGTTTATAGCCGTGAAATTCGACTTGCTCAGTGGCAGTGGCAATGACAGTGAGAATGACAGTGCCTGGACATATAGCCCTTACAGTGCTCTTCTCCATGAGTTTCTCCAGCCTCCCACATTATAAACTAAATCTTCTACTTGGAGTAGATGCTCTAAGGGTTAAAAAAAAAAAGG... |
Task1_train_20797 | A variant has been detected on Chromosome 15 in FBN1 (fibrillin 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Marfan syndrome | GTTAAAAAAAAAAAGGCCCCTATCACTCGTCAAAAGTTTCTGCTTGTTTAAAGCAGAAATACATCCACAGTTTGGCCTTACATTACATCACTCCCCAAGAAGCCTTAAACATGATGGATTTTTGCCAGATATAAAATAAAAGACTAAACTTACGTAAAATAAAAGACCAGAGGTTAAGTAAAATTAATACATCAAATAAAATCAAGATTCAAGTAGATTGTGTTGATTCTGTTGAAACCAGATGGTTTACATTAGGAAGAGGAAAGGCTAGAAAAAAATATGTTTAGGTTATGACCGCTCTAAAACACAGGCGGAGAGAA... | GTTAAAAAAAAAAAGGCCCCTATCACTCGTCAAAAGTTTCTGCTTGTTTAAAGCAGAAATACATCCACAGTTTGGCCTTACATTACATCACTCCCCAAGAAGCCTTAAACATGATGGATTTTTGCCAGATATAAAATAAAAGACTAAACTTACGTAAAATAAAAGACCAGAGGTTAAGTAAAATTAATACATCAAATAAAATCAAGATTCAAGTAGATTGTGTTGATTCTGTTGAAACCAGATGGTTTACATTAGGAAGAGGAAAGGCTAGAAAAAAATATGTTTAGGTTATGACCGCTCTAAAACACAGGCGGAGAGAA... |
Task1_train_20798 | A variant was discovered on Chromosome 15, affecting FBN1 (fibrillin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GTTAAAAAAAAAAAGGCCCCTATCACTCGTCAAAAGTTTCTGCTTGTTTAAAGCAGAAATACATCCACAGTTTGGCCTTACATTACATCACTCCCCAAGAAGCCTTAAACATGATGGATTTTTGCCAGATATAAAATAAAAGACTAAACTTACGTAAAATAAAAGACCAGAGGTTAAGTAAAATTAATACATCAAATAAAATCAAGATTCAAGTAGATTGTGTTGATTCTGTTGAAACCAGATGGTTTACATTAGGAAGAGGAAAGGCTAGAAAAAAATATGTTTAGGTTATGACCGCTCTAAAACACAGGCGGAGAGAA... | GTTAAAAAAAAAAAGGCCCCTATCACTCGTCAAAAGTTTCTGCTTGTTTAAAGCAGAAATACATCCACAGTTTGGCCTTACATTACATCACTCCCCAAGAAGCCTTAAACATGATGGATTTTTGCCAGATATAAAATAAAAGACTAAACTTACGTAAAATAAAAGACCAGAGGTTAAGTAAAATTAATACATCAAATAAAATCAAGATTCAAGTAGATTGTGTTGATTCTGTTGAAACCAGATGGTTTACATTAGGAAGAGGAAAGGCTAGAAAAAAATATGTTTAGGTTATGACCGCTCTAAAACACAGGCGGAGAGAA... |
Task1_train_20799 | Assess the clinical impact of this variant on gene FBN1 (fibrillin 1), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | ATGTGTGTATATATATGTGTGTATATATATGTGTATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGCCTTCTAACCCATCCACCTAGAATACTCACCATTCTTATTCTGACACATCCCTTGGGGAGAATATCTCCCCTTAGGAAAGAAATAATTTTGAGAAATAACATTGATATTTTAGCTATCTAAGGCACAGAAGAGTAATGGCTCTTGTCAACAGTTGTTTCTTGTGCTGAGGTTCTTAAGTCAAAAGTAAAGGCAAGAGGCTATGGTGGGGAGCTCCTAGGCGAAGAGGCTCATTTCAT... | ATGTGTGTATATATATGTGTGTATATATATGTGTATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGCCTTCTAACCCATCCACCTAGAATACTCACCATTCTTATTCTGACACATCCCTTGGGGAGAATATCTCCCCTTAGGAAAGAAATAATTTTGAGAAATAACATTGATATTTTAGCTATCTAAGGCACAGAAGAGTAATGGCTCTTGTCAACAGTTGTTTCTTGTGCTGAGGTTCTTAAGTCAAAAGTAAAGGCAAGAGGCTATGGTGGGGAGCTCCTAGGCGAAGAGGCTCATTTCAT... |
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