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_21200 | 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 | GCCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCCTCTTCTGTAACTCAGTGGATTGTCTTCAATAAATTATC... | GCCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCCTCTTCTGTAACTCAGTGGATTGTCTTCAATAAATTATC... |
Task1_train_21201 | 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 | CCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCCTCTTCTGTAACTCAGTGGATTGTCTTCAATAAATTATCC... | CCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCCTCTTCTGTAACTCAGTGGATTGTCTTCAATAAATTATCC... |
Task1_train_21202 | 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 | CCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCCTCTTCTGTAACTCAGTGGATTGTCTTCAATAAATTATCC... | CCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCCTCTTCTGTAACTCAGTGGATTGTCTTCAATAAATTATCC... |
Task1_train_21203 | A change on Chromosome 15 affects gene FBN1 (fibrillin 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Marfan syndrome | CCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCCTCTTCTGTAACTCAGTGGATTGTCTTCAATAAATTATCC... | CCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCCTCTTCTGTAACTCAGTGGATTGTCTTCAATAAATTATCC... |
Task1_train_21204 | A sequence alteration has been identified in FBN1 (fibrillin 1) on Chromosome 15. Is it disease-inducing or harmless? | Pathogenic; Marfan syndrome | CTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCCTCTTCTGTAACTCAGTGGATTGTCTTCAATAAATTATCCTAAACCTGAATTTCC... | CTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCCTCTTCTGTAACTCAGTGGATTGTCTTCAATAAATTATCCTAAACCTGAATTTCC... |
Task1_train_21205 | 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; not provided | CTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCCTCTTCTGTAACTCAGTGGATTGTCTTCAATAAATTATCCTAAACCTGAATTTCC... | CTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCCTCTTCTGTAACTCAGTGGATTGTCTTCAATAAATTATCCTAAACCTGAATTTCC... |
Task1_train_21206 | 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 | CGGCATATGGGGCCGATTTAAGAGCTCTGGAAAAATAACTGTGATGCTAGTGATTTAAGGAATAGTTGCATATCAACAGAAACTACAGTTGCTGCTTACTATTTGAAAGACTGTCAAAGGAGTGGCCATGGACCCTATCGGACATGCTGAATTTTGGAGTGTGTGTCTGTACCTGAAGCTAAGTGCTCAGCTATATCTTGTTAACTTCATTTTTAATAATCGTTAATAAATTATTATTAGAAAAATAATGAGCTCAGTATTTACCAAGACAGATCCTTCCTGTGGCATCCAAAGTCATTCCACTGGGACACTGACACTTG... | CGGCATATGGGGCCGATTTAAGAGCTCTGGAAAAATAACTGTGATGCTAGTGATTTAAGGAATAGTTGCATATCAACAGAAACTACAGTTGCTGCTTACTATTTGAAAGACTGTCAAAGGAGTGGCCATGGACCCTATCGGACATGCTGAATTTTGGAGTGTGTGTCTGTACCTGAAGCTAAGTGCTCAGCTATATCTTGTTAACTTCATTTTTAATAATCGTTAATAAATTATTATTAGAAAAATAATGAGCTCAGTATTTACCAAGACAGATCCTTCCTGTGGCATCCAAAGTCATTCCACTGGGACACTGACACTTG... |
Task1_train_21207 | 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 | CGGCATATGGGGCCGATTTAAGAGCTCTGGAAAAATAACTGTGATGCTAGTGATTTAAGGAATAGTTGCATATCAACAGAAACTACAGTTGCTGCTTACTATTTGAAAGACTGTCAAAGGAGTGGCCATGGACCCTATCGGACATGCTGAATTTTGGAGTGTGTGTCTGTACCTGAAGCTAAGTGCTCAGCTATATCTTGTTAACTTCATTTTTAATAATCGTTAATAAATTATTATTAGAAAAATAATGAGCTCAGTATTTACCAAGACAGATCCTTCCTGTGGCATCCAAAGTCATTCCACTGGGACACTGACACTTG... | CGGCATATGGGGCCGATTTAAGAGCTCTGGAAAAATAACTGTGATGCTAGTGATTTAAGGAATAGTTGCATATCAACAGAAACTACAGTTGCTGCTTACTATTTGAAAGACTGTCAAAGGAGTGGCCATGGACCCTATCGGACATGCTGAATTTTGGAGTGTGTGTCTGTACCTGAAGCTAAGTGCTCAGCTATATCTTGTTAACTTCATTTTTAATAATCGTTAATAAATTATTATTAGAAAAATAATGAGCTCAGTATTTACCAAGACAGATCCTTCCTGTGGCATCCAAAGTCATTCCACTGGGACACTGACACTTG... |
Task1_train_21208 | This gene mutation involves FBN1 (fibrillin 1) on Chromosome 15. Is it associated with any clinical condition, or is it benign? | Pathogenic; Marfan syndrome | GGCATATGGGGCCGATTTAAGAGCTCTGGAAAAATAACTGTGATGCTAGTGATTTAAGGAATAGTTGCATATCAACAGAAACTACAGTTGCTGCTTACTATTTGAAAGACTGTCAAAGGAGTGGCCATGGACCCTATCGGACATGCTGAATTTTGGAGTGTGTGTCTGTACCTGAAGCTAAGTGCTCAGCTATATCTTGTTAACTTCATTTTTAATAATCGTTAATAAATTATTATTAGAAAAATAATGAGCTCAGTATTTACCAAGACAGATCCTTCCTGTGGCATCCAAAGTCATTCCACTGGGACACTGACACTTGA... | GGCATATGGGGCCGATTTAAGAGCTCTGGAAAAATAACTGTGATGCTAGTGATTTAAGGAATAGTTGCATATCAACAGAAACTACAGTTGCTGCTTACTATTTGAAAGACTGTCAAAGGAGTGGCCATGGACCCTATCGGACATGCTGAATTTTGGAGTGTGTGTCTGTACCTGAAGCTAAGTGCTCAGCTATATCTTGTTAACTTCATTTTTAATAATCGTTAATAAATTATTATTAGAAAAATAATGAGCTCAGTATTTACCAAGACAGATCCTTCCTGTGGCATCCAAAGTCATTCCACTGGGACACTGACACTTGA... |
Task1_train_21209 | 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 | GGCATATGGGGCCGATTTAAGAGCTCTGGAAAAATAACTGTGATGCTAGTGATTTAAGGAATAGTTGCATATCAACAGAAACTACAGTTGCTGCTTACTATTTGAAAGACTGTCAAAGGAGTGGCCATGGACCCTATCGGACATGCTGAATTTTGGAGTGTGTGTCTGTACCTGAAGCTAAGTGCTCAGCTATATCTTGTTAACTTCATTTTTAATAATCGTTAATAAATTATTATTAGAAAAATAATGAGCTCAGTATTTACCAAGACAGATCCTTCCTGTGGCATCCAAAGTCATTCCACTGGGACACTGACACTTGA... | GGCATATGGGGCCGATTTAAGAGCTCTGGAAAAATAACTGTGATGCTAGTGATTTAAGGAATAGTTGCATATCAACAGAAACTACAGTTGCTGCTTACTATTTGAAAGACTGTCAAAGGAGTGGCCATGGACCCTATCGGACATGCTGAATTTTGGAGTGTGTGTCTGTACCTGAAGCTAAGTGCTCAGCTATATCTTGTTAACTTCATTTTTAATAATCGTTAATAAATTATTATTAGAAAAATAATGAGCTCAGTATTTACCAAGACAGATCCTTCCTGTGGCATCCAAAGTCATTCCACTGGGACACTGACACTTGA... |
Task1_train_21210 | A variant on Chromosome 15 in gene FBN1 (fibrillin 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | AATTCTAACTCAGCCATGGTCTCAGGCTGTTCTGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGT... | AATTCTAACTCAGCCATGGTCTCAGGCTGTTCTGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGT... |
Task1_train_21211 | 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 | CTCAGCCATGGTCTCAGGCTGTTCTGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAA... | CTCAGCCATGGTCTCAGGCTGTTCTGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAA... |
Task1_train_21212 | 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; Familial thoracic aortic aneurysm and aortic dissection | CTCAGCCATGGTCTCAGGCTGTTCTGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAA... | CTCAGCCATGGTCTCAGGCTGTTCTGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAA... |
Task1_train_21213 | 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 | TCAGCCATGGTCTCAGGCTGTTCTGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAAT... | TCAGCCATGGTCTCAGGCTGTTCTGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAAT... |
Task1_train_21214 | The following genetic variant occurs in FBN1 (fibrillin 1) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TCAGCCATGGTCTCAGGCTGTTCTGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAAT... | TCAGCCATGGTCTCAGGCTGTTCTGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAAT... |
Task1_train_21215 | 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 | AGCCATGGTCTCAGGCTGTTCTGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATAT... | AGCCATGGTCTCAGGCTGTTCTGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATAT... |
Task1_train_21216 | Here’s a variant in FBN1 (fibrillin 1) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Marfan syndrome | AGCCATGGTCTCAGGCTGTTCTGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATAT... | AGCCATGGTCTCAGGCTGTTCTGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATAT... |
Task1_train_21217 | 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; Familial thoracic aortic aneurysm and aortic dissection | GGTCTCAGGCTGTTCTGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAA... | GGTCTCAGGCTGTTCTGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAA... |
Task1_train_21218 | The following genetic variant occurs in FBN1 (fibrillin 1) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Marfan syndrome | GGTCTCAGGCTGTTCTGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAA... | GGTCTCAGGCTGTTCTGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAA... |
Task1_train_21219 | 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 | TCAGGCTGTTCTGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTT... | TCAGGCTGTTCTGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTT... |
Task1_train_21220 | This mutation is located in gene FBN1 (fibrillin 1) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TCAGGCTGTTCTGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTT... | TCAGGCTGTTCTGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTT... |
Task1_train_21221 | 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 | TCAGGCTGTTCTGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTT... | TCAGGCTGTTCTGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTT... |
Task1_train_21222 | 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 | TCTGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAA... | TCTGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAA... |
Task1_train_21223 | 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; Familial thoracic aortic aneurysm and aortic dissection | TCTGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAA... | TCTGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAA... |
Task1_train_21224 | 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 | TGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGA... | TGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGA... |
Task1_train_21225 | 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 | TGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGA... | TGTCCATGCTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGA... |
Task1_train_21226 | 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; Marfan syndrome | CTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAA... | CTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAA... |
Task1_train_21227 | 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 | CTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAA... | CTTTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAA... |
Task1_train_21228 | This alteration in FBN1 (fibrillin 1) on Chromosome 15 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Marfan syndrome | TTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAATG... | TTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAATG... |
Task1_train_21229 | 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 | TTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAATG... | TTGGTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAATG... |
Task1_train_21230 | 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 | GTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAATGGGG... | GTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAATGGGG... |
Task1_train_21231 | 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; Familial thoracic aortic aneurysm and aortic dissection | GTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAATGGGG... | GTCTCAGCTTGGGTTGAGGGGAATTAAAAGATACTCATGTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAATGGGG... |
Task1_train_21232 | 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 | GTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAATGGGGAGAGGGTGGAATCTACCTTTTTGGGTTTTTTGTTTTGT... | GTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAATGGGGAGAGGGTGGAATCTACCTTTTTGGGTTTTTTGTTTTGT... |
Task1_train_21233 | 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 | GTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAATGGGGAGAGGGTGGAATCTACCTTTTTGGGTTTTTTGTTTTGT... | GTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAATGGGGAGAGGGTGGAATCTACCTTTTTGGGTTTTTTGTTTTGT... |
Task1_train_21234 | 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; Familial thoracic aortic aneurysm and aortic dissection | GTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAATGGGGAGAGGGTGGAATCTACCTTTTTGGGTTTTTTGTTTTGT... | GTTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAATGGGGAGAGGGTGGAATCTACCTTTTTGGGTTTTTTGTTTTGT... |
Task1_train_21235 | The following genetic variant occurs in FBN1 (fibrillin 1) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAATGGGGAGAGGGTGGAATCTACCTTTTTGGGTTTTTTGTTTTGTT... | TTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAATGGGGAGAGGGTGGAATCTACCTTTTTGGGTTTTTTGTTTTGTT... |
Task1_train_21236 | Gene FBN1 (fibrillin 1) on Chromosome 15 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Marfan syndrome | TTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAATGGGGAGAGGGTGGAATCTACCTTTTTGGGTTTTTTGTTTTGTT... | TTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAATGGGGAGAGGGTGGAATCTACCTTTTTGGGTTTTTTGTTTTGTT... |
Task1_train_21237 | A mutation found in FBN1 (fibrillin 1) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Marfan syndrome | TTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAATGGGGAGAGGGTGGAATCTACCTTTTTGGGTTTTTTGTTTTGTT... | TTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAATGGGGAGAGGGTGGAATCTACCTTTTTGGGTTTTTTGTTTTGTT... |
Task1_train_21238 | 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 | TTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAATGGGGAGAGGGTGGAATCTACCTTTTTGGGTTTTTTGTTTTGTT... | TTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAATGGGGAGAGGGTGGAATCTACCTTTTTGGGTTTTTTGTTTTGTT... |
Task1_train_21239 | 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 | TTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAATGGGGAGAGGGTGGAATCTACCTTTTTGGGTTTTTTGTTTTGTT... | TTCATTCATTCATCATTCATCCAATCTCTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAATGGGGAGAGGGTGGAATCTACCTTTTTGGGTTTTTTGTTTTGTT... |
Task1_train_21240 | The gene FBN1 (fibrillin 1) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Marfan syndrome | CTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAATGGGGAGAGGGTGGAATCTACCTTTTTGGGTTTTTTGTTTTGTTTTGGCCACTTGTACAACAAAATATGCT... | CTCTCAAATGTACCAGTCCTTCCCAGTTTGCCTAATGGAGAGCAATATGTTCTCTGCACTTAATTTGGAAAAGTATTCACCACCAAGTTAATCAAAAGAAAGGCACTTACTTGCCAATGCCAAAAAAAAAAGAGGGGGGAACATTAGCTAAGAAACTCATACACACTGTGTCTCTATTTAGAAGAAATAACTTTCCACAACAGGAATGTTGAAAAAATATTCTGAATCTTTCCTTGTAAGAGAGATCAATGGGGAGAGGGTGGAATCTACCTTTTTGGGTTTTTTGTTTTGTTTTGGCCACTTGTACAACAAAATATGCT... |
Task1_train_21241 | 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 | CTTTTTGGGTTTTTTGTTTTGTTTTGGCCACTTGTACAACAAAATATGCTGCTGAGGTCAGATAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCC... | CTTTTTGGGTTTTTTGTTTTGTTTTGGCCACTTGTACAACAAAATATGCTGCTGAGGTCAGATAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCC... |
Task1_train_21242 | 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 | CTTTTTGGGTTTTTTGTTTTGTTTTGGCCACTTGTACAACAAAATATGCTGCTGAGGTCAGATAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCC... | CTTTTTGGGTTTTTTGTTTTGTTTTGGCCACTTGTACAACAAAATATGCTGCTGAGGTCAGATAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCC... |
Task1_train_21243 | 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; Familial thoracic aortic aneurysm and aortic dissection | CTTTTTGGGTTTTTTGTTTTGTTTTGGCCACTTGTACAACAAAATATGCTGCTGAGGTCAGATAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCC... | CTTTTTGGGTTTTTTGTTTTGTTTTGGCCACTTGTACAACAAAATATGCTGCTGAGGTCAGATAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCC... |
Task1_train_21244 | 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 | CTTTTTGGGTTTTTTGTTTTGTTTTGGCCACTTGTACAACAAAATATGCTGCTGAGGTCAGATAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCC... | CTTTTTGGGTTTTTTGTTTTGTTTTGGCCACTTGTACAACAAAATATGCTGCTGAGGTCAGATAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCC... |
Task1_train_21245 | 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 | CTTTTTGGGTTTTTTGTTTTGTTTTGGCCACTTGTACAACAAAATATGCTGCTGAGGTCAGATAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCC... | CTTTTTGGGTTTTTTGTTTTGTTTTGGCCACTTGTACAACAAAATATGCTGCTGAGGTCAGATAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCC... |
Task1_train_21246 | 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; Marfan syndrome | CTTTTTGGGTTTTTTGTTTTGTTTTGGCCACTTGTACAACAAAATATGCTGCTGAGGTCAGATAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCC... | CTTTTTGGGTTTTTTGTTTTGTTTTGGCCACTTGTACAACAAAATATGCTGCTGAGGTCAGATAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCC... |
Task1_train_21247 | This mutation is located in gene FBN1 (fibrillin 1) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Marfan syndrome | TTTTTGGGTTTTTTGTTTTGTTTTGGCCACTTGTACAACAAAATATGCTGCTGAGGTCAGATAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCCA... | TTTTTGGGTTTTTTGTTTTGTTTTGGCCACTTGTACAACAAAATATGCTGCTGAGGTCAGATAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCCA... |
Task1_train_21248 | 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 | TTTTTGGGTTTTTTGTTTTGTTTTGGCCACTTGTACAACAAAATATGCTGCTGAGGTCAGATAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCCA... | TTTTTGGGTTTTTTGTTTTGTTTTGGCCACTTGTACAACAAAATATGCTGCTGAGGTCAGATAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCCA... |
Task1_train_21249 | 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 | GGGTTTTTTGTTTTGTTTTGGCCACTTGTACAACAAAATATGCTGCTGAGGTCAGATAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCCATGCAG... | GGGTTTTTTGTTTTGTTTTGGCCACTTGTACAACAAAATATGCTGCTGAGGTCAGATAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCCATGCAG... |
Task1_train_21250 | 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 | GTACAACAAAATATGCTGCTGAGGTCAGATAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCCATGCAGACTTTCAACAAAGAGAAAACAGAATGT... | GTACAACAAAATATGCTGCTGAGGTCAGATAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCCATGCAGACTTTCAACAAAGAGAAAACAGAATGT... |
Task1_train_21251 | 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 | GTACAACAAAATATGCTGCTGAGGTCAGATAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCCATGCAGACTTTCAACAAAGAGAAAACAGAATGT... | GTACAACAAAATATGCTGCTGAGGTCAGATAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCCATGCAGACTTTCAACAAAGAGAAAACAGAATGT... |
Task1_train_21252 | 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 | CTGCTGAGGTCAGATAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCCATGCAGACTTTCAACAAAGAGAAAACAGAATGTGTCCTTCTAAATCAC... | CTGCTGAGGTCAGATAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCCATGCAGACTTTCAACAAAGAGAAAACAGAATGTGTCCTTCTAAATCAC... |
Task1_train_21253 | Gene FBN1 (fibrillin 1) on Chromosome 15 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CTGCTGAGGTCAGATAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCCATGCAGACTTTCAACAAAGAGAAAACAGAATGTGTCCTTCTAAATCAC... | CTGCTGAGGTCAGATAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCCATGCAGACTTTCAACAAAGAGAAAACAGAATGTGTCCTTCTAAATCAC... |
Task1_train_21254 | 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 | TAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCCATGCAGACTTTCAACAAAGAGAAAACAGAATGTGTCCTTCTAAATCACCCATGACTGTGAAA... | TAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCCATGCAGACTTTCAACAAAGAGAAAACAGAATGTGTCCTTCTAAATCACCCATGACTGTGAAA... |
Task1_train_21255 | 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 | TAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCCATGCAGACTTTCAACAAAGAGAAAACAGAATGTGTCCTTCTAAATCACCCATGACTGTGAAA... | TAAGTTATTAACAGCGGGTCTGGACCAGAGAAAGGCCAAAGGATTCAGTCATCATTTGGAAAGCAAGACCTTGGGTGGGGGTTGTAGTGTGCCTCTTTGTTTTAACAGGGAAAAAACTTCATTTCATCCCACATATGGGACTAATTGCTGTTTTTAAAATTTTTCAGCTGCTGTGTCATGTCAGGTTGTGTTAGTCACCATGACCTATGTCTATCTGAAACTCCAGGAGAAAGAATCACAGCAAACTGAAGAAACTCCATGCAGACTTTCAACAAAGAGAAAACAGAATGTGTCCTTCTAAATCACCCATGACTGTGAAA... |
Task1_train_21256 | 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 | AGCTGTTCCGTTTTGTAGTTCTCATTATTTTTTTTCTCTGCTGCATATTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGT... | AGCTGTTCCGTTTTGTAGTTCTCATTATTTTTTTTCTCTGCTGCATATTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGT... |
Task1_train_21257 | 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 | AGCTGTTCCGTTTTGTAGTTCTCATTATTTTTTTTCTCTGCTGCATATTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGT... | AGCTGTTCCGTTTTGTAGTTCTCATTATTTTTTTTCTCTGCTGCATATTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGT... |
Task1_train_21258 | 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; Marfan syndrome | AGCTGTTCCGTTTTGTAGTTCTCATTATTTTTTTTCTCTGCTGCATATTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGT... | AGCTGTTCCGTTTTGTAGTTCTCATTATTTTTTTTCTCTGCTGCATATTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGT... |
Task1_train_21259 | 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 | GCTGTTCCGTTTTGTAGTTCTCATTATTTTTTTTCTCTGCTGCATATTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTT... | GCTGTTCCGTTTTGTAGTTCTCATTATTTTTTTTCTCTGCTGCATATTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTT... |
Task1_train_21260 | Gene FBN1 (fibrillin 1) on Chromosome 15 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GCTGTTCCGTTTTGTAGTTCTCATTATTTTTTTTCTCTGCTGCATATTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTT... | GCTGTTCCGTTTTGTAGTTCTCATTATTTTTTTTCTCTGCTGCATATTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTT... |
Task1_train_21261 | 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 | CTGTTCCGTTTTGTAGTTCTCATTATTTTTTTTCTCTGCTGCATATTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTG... | CTGTTCCGTTTTGTAGTTCTCATTATTTTTTTTCTCTGCTGCATATTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTG... |
Task1_train_21262 | A mutation found in FBN1 (fibrillin 1) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Marfan syndrome | CTGTTCCGTTTTGTAGTTCTCATTATTTTTTTTCTCTGCTGCATATTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTG... | CTGTTCCGTTTTGTAGTTCTCATTATTTTTTTTCTCTGCTGCATATTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTG... |
Task1_train_21263 | 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 | CTGTTCCGTTTTGTAGTTCTCATTATTTTTTTTCTCTGCTGCATATTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTG... | CTGTTCCGTTTTGTAGTTCTCATTATTTTTTTTCTCTGCTGCATATTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTG... |
Task1_train_21264 | 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; Marfan syndrome | CTGCATATTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTGCTATAAGTATGAGATAACAAAATGTTTCTGCGATTGCA... | CTGCATATTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTGCTATAAGTATGAGATAACAAAATGTTTCTGCGATTGCA... |
Task1_train_21265 | 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; Familial thoracic aortic aneurysm and aortic dissection | CTGCATATTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTGCTATAAGTATGAGATAACAAAATGTTTCTGCGATTGCA... | CTGCATATTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTGCTATAAGTATGAGATAACAAAATGTTTCTGCGATTGCA... |
Task1_train_21266 | Consider this mutation in FBN1 (fibrillin 1) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; Marfan syndrome | ATTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTGCTATAAGTATGAGATAACAAAATGTTTCTGCGATTGCATAGGTG... | ATTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTGCTATAAGTATGAGATAACAAAATGTTTCTGCGATTGCATAGGTG... |
Task1_train_21267 | 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; Familial thoracic aortic aneurysm and aortic dissection | ATTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTGCTATAAGTATGAGATAACAAAATGTTTCTGCGATTGCATAGGTG... | ATTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTGCTATAAGTATGAGATAACAAAATGTTTCTGCGATTGCATAGGTG... |
Task1_train_21268 | The gene FBN1 (fibrillin 1) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTGCTATAAGTATGAGATAACAAAATGTTTCTGCGATTGCATAGGTGA... | TTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTGCTATAAGTATGAGATAACAAAATGTTTCTGCGATTGCATAGGTGA... |
Task1_train_21269 | 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; Marfan syndrome | TTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTGCTATAAGTATGAGATAACAAAATGTTTCTGCGATTGCATAGGTGA... | TTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTGCTATAAGTATGAGATAACAAAATGTTTCTGCGATTGCATAGGTGA... |
Task1_train_21270 | A genomic change on Chromosome 15 affects FBN1 (fibrillin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTGCTATAAGTATGAGATAACAAAATGTTTCTGCGATTGCATAGGTGA... | TTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTGCTATAAGTATGAGATAACAAAATGTTTCTGCGATTGCATAGGTGA... |
Task1_train_21271 | This variant affects gene FBN1 (fibrillin 1) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Marfan syndrome | TTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTGCTATAAGTATGAGATAACAAAATGTTTCTGCGATTGCATAGGTGA... | TTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTGCTATAAGTATGAGATAACAAAATGTTTCTGCGATTGCATAGGTGA... |
Task1_train_21272 | 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 | TTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTGCTATAAGTATGAGATAACAAAATGTTTCTGCGATTGCATAGGTGAGGAAGAACAGTAATGAAATGTCTCCTC... | TTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTGCTATAAGTATGAGATAACAAAATGTTTCTGCGATTGCATAGGTGAGGAAGAACAGTAATGAAATGTCTCCTC... |
Task1_train_21273 | A mutation found in FBN1 (fibrillin 1) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Marfan syndrome | GTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTGCTATAAGTATGAGATAACAAAATGTTTCTGCGATTGCATAGGTGAGGAAGAACAGTAATGAAATGTCTCCTCAAATAAAGCTCAAT... | GTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTGCTATAAGTATGAGATAACAAAATGTTTCTGCGATTGCATAGGTGAGGAAGAACAGTAATGAAATGTCTCCTCAAATAAAGCTCAAT... |
Task1_train_21274 | 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 | CTTGATGGTTTCTGCAGAGGAGGGAATAATATTTAATAGAATCTATATAAAAATTCAAACATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTT... | CTTGATGGTTTCTGCAGAGGAGGGAATAATATTTAATAGAATCTATATAAAAATTCAAACATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTT... |
Task1_train_21275 | 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 | CTTGATGGTTTCTGCAGAGGAGGGAATAATATTTAATAGAATCTATATAAAAATTCAAACATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTT... | CTTGATGGTTTCTGCAGAGGAGGGAATAATATTTAATAGAATCTATATAAAAATTCAAACATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTT... |
Task1_train_21276 | A mutation found in FBN1 (fibrillin 1) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CTTGATGGTTTCTGCAGAGGAGGGAATAATATTTAATAGAATCTATATAAAAATTCAAACATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTT... | CTTGATGGTTTCTGCAGAGGAGGGAATAATATTTAATAGAATCTATATAAAAATTCAAACATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTT... |
Task1_train_21277 | A mutation found in FBN1 (fibrillin 1) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections | CTTGATGGTTTCTGCAGAGGAGGGAATAATATTTAATAGAATCTATATAAAAATTCAAACATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTT... | CTTGATGGTTTCTGCAGAGGAGGGAATAATATTTAATAGAATCTATATAAAAATTCAAACATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTT... |
Task1_train_21278 | 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; Marfan syndrome | TGCAGAGGAGGGAATAATATTTAATAGAATCTATATAAAAATTCAAACATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTTGATTCGCATTCA... | TGCAGAGGAGGGAATAATATTTAATAGAATCTATATAAAAATTCAAACATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTTGATTCGCATTCA... |
Task1_train_21279 | 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; Familial thoracic aortic aneurysm and aortic dissection | TGCAGAGGAGGGAATAATATTTAATAGAATCTATATAAAAATTCAAACATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTTGATTCGCATTCA... | TGCAGAGGAGGGAATAATATTTAATAGAATCTATATAAAAATTCAAACATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTTGATTCGCATTCA... |
Task1_train_21280 | 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 | TGCAGAGGAGGGAATAATATTTAATAGAATCTATATAAAAATTCAAACATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTTGATTCGCATTCA... | TGCAGAGGAGGGAATAATATTTAATAGAATCTATATAAAAATTCAAACATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTTGATTCGCATTCA... |
Task1_train_21281 | 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 | ATATAAAAATTCAAACATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTTGATTCGCATTCATCAATGTCTGAAACAAAAACAGGTCTACATTA... | ATATAAAAATTCAAACATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTTGATTCGCATTCATCAATGTCTGAAACAAAAACAGGTCTACATTA... |
Task1_train_21282 | This mutation is located in gene FBN1 (fibrillin 1) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TATAAAAATTCAAACATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTTGATTCGCATTCATCAATGTCTGAAACAAAAACAGGTCTACATTAC... | TATAAAAATTCAAACATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTTGATTCGCATTCATCAATGTCTGAAACAAAAACAGGTCTACATTAC... |
Task1_train_21283 | 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 | TATAAAAATTCAAACATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTTGATTCGCATTCATCAATGTCTGAAACAAAAACAGGTCTACATTAC... | TATAAAAATTCAAACATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTTGATTCGCATTCATCAATGTCTGAAACAAAAACAGGTCTACATTAC... |
Task1_train_21284 | 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 | ATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTTGATTCGCATTCATCAATGTCTGAAACAAAAACAGGTCTACATTACTGCTAAAATCTAGTC... | ATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTTGATTCGCATTCATCAATGTCTGAAACAAAAACAGGTCTACATTACTGCTAAAATCTAGTC... |
Task1_train_21285 | 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; Familial thoracic aortic aneurysm and aortic dissection | ATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTTGATTCGCATTCATCAATGTCTGAAACAAAAACAGGTCTACATTACTGCTAAAATCTAGTC... | ATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTTGATTCGCATTCATCAATGTCTGAAACAAAAACAGGTCTACATTACTGCTAAAATCTAGTC... |
Task1_train_21286 | This is a variant in FBN1 (fibrillin 1), located on Chromosome 15. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | AAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTTGATTCGCATTCATCAATGTCTGAAACAAAAACAGGTCTACATTACTGCTAAAATCTAGTCTTGGGCCTAAAAGAGTACTTCA... | AAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTTGATTCGCATTCATCAATGTCTGAAACAAAAACAGGTCTACATTACTGCTAAAATCTAGTCTTGGGCCTAAAAGAGTACTTCA... |
Task1_train_21287 | 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 | AAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTTGATTCGCATTCATCAATGTCTGAAACAAAAACAGGTCTACATTACTGCTAAAATCTAGTCTTGGGCCTAAAAGAGTACTTCA... | AAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTTGATTCGCATTCATCAATGTCTGAAACAAAAACAGGTCTACATTACTGCTAAAATCTAGTCTTGGGCCTAAAAGAGTACTTCA... |
Task1_train_21288 | 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 | AAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTTGATTCGCATTCATCAATGTCTGAAACAAAAACAGGTCTACATTACTGCTAAAATCTAGTCTTGGGCCTAAAAGAGTACTTCA... | AAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTTGATTCGCATTCATCAATGTCTGAAACAAAAACAGGTCTACATTACTGCTAAAATCTAGTCTTGGGCCTAAAAGAGTACTTCA... |
Task1_train_21289 | 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 | CTGCATCTTATATCTAAGGAGCTTCTCTTTGAAGGAGTGAAATCTGATACATCATTATTTTAAGGAGCAAATCATTTCAAGGAGTGAATCTGATACATCGTTATTCATAAACTGTGAAGATTCAGTGATGTAAATTTTTGTTACTAAAGATATGTATATGCTGTGCTAACATCCGAAGTATAAAGTGTCCATTTGCCCAGTCCTCTAAGCTACTCAAAGGCAGTTTTCTCCCAGCAATGAAAGAAGGAATGCATTATGCAGGCAATGTTTCAGAAAATGGGTAAAACTTCTCACCAACGCAGTTTTTCCCAGTTGAATCC... | CTGCATCTTATATCTAAGGAGCTTCTCTTTGAAGGAGTGAAATCTGATACATCATTATTTTAAGGAGCAAATCATTTCAAGGAGTGAATCTGATACATCGTTATTCATAAACTGTGAAGATTCAGTGATGTAAATTTTTGTTACTAAAGATATGTATATGCTGTGCTAACATCCGAAGTATAAAGTGTCCATTTGCCCAGTCCTCTAAGCTACTCAAAGGCAGTTTTCTCCCAGCAATGAAAGAAGGAATGCATTATGCAGGCAATGTTTCAGAAAATGGGTAAAACTTCTCACCAACGCAGTTTTTCCCAGTTGAATCC... |
Task1_train_21290 | This gene mutation involves FBN1 (fibrillin 1) on Chromosome 15. Is it associated with any clinical condition, or is it benign? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CTGCATCTTATATCTAAGGAGCTTCTCTTTGAAGGAGTGAAATCTGATACATCATTATTTTAAGGAGCAAATCATTTCAAGGAGTGAATCTGATACATCGTTATTCATAAACTGTGAAGATTCAGTGATGTAAATTTTTGTTACTAAAGATATGTATATGCTGTGCTAACATCCGAAGTATAAAGTGTCCATTTGCCCAGTCCTCTAAGCTACTCAAAGGCAGTTTTCTCCCAGCAATGAAAGAAGGAATGCATTATGCAGGCAATGTTTCAGAAAATGGGTAAAACTTCTCACCAACGCAGTTTTTCCCAGTTGAATCC... | CTGCATCTTATATCTAAGGAGCTTCTCTTTGAAGGAGTGAAATCTGATACATCATTATTTTAAGGAGCAAATCATTTCAAGGAGTGAATCTGATACATCGTTATTCATAAACTGTGAAGATTCAGTGATGTAAATTTTTGTTACTAAAGATATGTATATGCTGTGCTAACATCCGAAGTATAAAGTGTCCATTTGCCCAGTCCTCTAAGCTACTCAAAGGCAGTTTTCTCCCAGCAATGAAAGAAGGAATGCATTATGCAGGCAATGTTTCAGAAAATGGGTAAAACTTCTCACCAACGCAGTTTTTCCCAGTTGAATCC... |
Task1_train_21291 | A sequence alteration has been identified in FBN1 (fibrillin 1) on Chromosome 15. Is it disease-inducing or harmless? | Pathogenic; Marfan syndrome | TGCATCTTATATCTAAGGAGCTTCTCTTTGAAGGAGTGAAATCTGATACATCATTATTTTAAGGAGCAAATCATTTCAAGGAGTGAATCTGATACATCGTTATTCATAAACTGTGAAGATTCAGTGATGTAAATTTTTGTTACTAAAGATATGTATATGCTGTGCTAACATCCGAAGTATAAAGTGTCCATTTGCCCAGTCCTCTAAGCTACTCAAAGGCAGTTTTCTCCCAGCAATGAAAGAAGGAATGCATTATGCAGGCAATGTTTCAGAAAATGGGTAAAACTTCTCACCAACGCAGTTTTTCCCAGTTGAATCCA... | TGCATCTTATATCTAAGGAGCTTCTCTTTGAAGGAGTGAAATCTGATACATCATTATTTTAAGGAGCAAATCATTTCAAGGAGTGAATCTGATACATCGTTATTCATAAACTGTGAAGATTCAGTGATGTAAATTTTTGTTACTAAAGATATGTATATGCTGTGCTAACATCCGAAGTATAAAGTGTCCATTTGCCCAGTCCTCTAAGCTACTCAAAGGCAGTTTTCTCCCAGCAATGAAAGAAGGAATGCATTATGCAGGCAATGTTTCAGAAAATGGGTAAAACTTCTCACCAACGCAGTTTTTCCCAGTTGAATCCA... |
Task1_train_21292 | 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; Familial thoracic aortic aneurysm and aortic dissection | TGCATCTTATATCTAAGGAGCTTCTCTTTGAAGGAGTGAAATCTGATACATCATTATTTTAAGGAGCAAATCATTTCAAGGAGTGAATCTGATACATCGTTATTCATAAACTGTGAAGATTCAGTGATGTAAATTTTTGTTACTAAAGATATGTATATGCTGTGCTAACATCCGAAGTATAAAGTGTCCATTTGCCCAGTCCTCTAAGCTACTCAAAGGCAGTTTTCTCCCAGCAATGAAAGAAGGAATGCATTATGCAGGCAATGTTTCAGAAAATGGGTAAAACTTCTCACCAACGCAGTTTTTCCCAGTTGAATCCA... | TGCATCTTATATCTAAGGAGCTTCTCTTTGAAGGAGTGAAATCTGATACATCATTATTTTAAGGAGCAAATCATTTCAAGGAGTGAATCTGATACATCGTTATTCATAAACTGTGAAGATTCAGTGATGTAAATTTTTGTTACTAAAGATATGTATATGCTGTGCTAACATCCGAAGTATAAAGTGTCCATTTGCCCAGTCCTCTAAGCTACTCAAAGGCAGTTTTCTCCCAGCAATGAAAGAAGGAATGCATTATGCAGGCAATGTTTCAGAAAATGGGTAAAACTTCTCACCAACGCAGTTTTTCCCAGTTGAATCCA... |
Task1_train_21293 | 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 | ACTCTTGTGTGCCAGCTTTCATGATACTTGTCTGTATTGCAAATTCAAAGTAGGTAAGTAAAGTACTTTGAAAAGTTAAAGTAACACACAAAAGGATGATATTAATAATATACAACTATAAAGTTATAGGCAAATGTCTTCAACAGAATGGTATTTGTATATAATAAAAGTATTATAAACACATATTGAACTGATTGGTGATCATACATAAAATGATAATTTCTATATTATTCACCGGGTGAAGTCATTAGCCAGAGCAGTTTTTTTCTTTAAATAGGCATCCCTCATTTCCTTTTTCTTTCTTTATTGAGACAGAGTCT... | ACTCTTGTGTGCCAGCTTTCATGATACTTGTCTGTATTGCAAATTCAAAGTAGGTAAGTAAAGTACTTTGAAAAGTTAAAGTAACACACAAAAGGATGATATTAATAATATACAACTATAAAGTTATAGGCAAATGTCTTCAACAGAATGGTATTTGTATATAATAAAAGTATTATAAACACATATTGAACTGATTGGTGATCATACATAAAATGATAATTTCTATATTATTCACCGGGTGAAGTCATTAGCCAGAGCAGTTTTTTTCTTTAAATAGGCATCCCTCATTTCCTTTTTCTTTCTTTATTGAGACAGAGTCT... |
Task1_train_21294 | Here’s a variant in FBN1 (fibrillin 1) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Marfan syndrome | ACTCTTGTGTGCCAGCTTTCATGATACTTGTCTGTATTGCAAATTCAAAGTAGGTAAGTAAAGTACTTTGAAAAGTTAAAGTAACACACAAAAGGATGATATTAATAATATACAACTATAAAGTTATAGGCAAATGTCTTCAACAGAATGGTATTTGTATATAATAAAAGTATTATAAACACATATTGAACTGATTGGTGATCATACATAAAATGATAATTTCTATATTATTCACCGGGTGAAGTCATTAGCCAGAGCAGTTTTTTTCTTTAAATAGGCATCCCTCATTTCCTTTTTCTTTCTTTATTGAGACAGAGTCT... | ACTCTTGTGTGCCAGCTTTCATGATACTTGTCTGTATTGCAAATTCAAAGTAGGTAAGTAAAGTACTTTGAAAAGTTAAAGTAACACACAAAAGGATGATATTAATAATATACAACTATAAAGTTATAGGCAAATGTCTTCAACAGAATGGTATTTGTATATAATAAAAGTATTATAAACACATATTGAACTGATTGGTGATCATACATAAAATGATAATTTCTATATTATTCACCGGGTGAAGTCATTAGCCAGAGCAGTTTTTTTCTTTAAATAGGCATCCCTCATTTCCTTTTTCTTTCTTTATTGAGACAGAGTCT... |
Task1_train_21295 | 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; Marfan syndrome | AAGTACTTTGAAAAGTTAAAGTAACACACAAAAGGATGATATTAATAATATACAACTATAAAGTTATAGGCAAATGTCTTCAACAGAATGGTATTTGTATATAATAAAAGTATTATAAACACATATTGAACTGATTGGTGATCATACATAAAATGATAATTTCTATATTATTCACCGGGTGAAGTCATTAGCCAGAGCAGTTTTTTTCTTTAAATAGGCATCCCTCATTTCCTTTTTCTTTCTTTATTGAGACAGAGTCTCGCTCTGTCACCCACGCTGGAGAACAGTGGTGCTATCTTGGCTCACTGAAACCTCCACCT... | AAGTACTTTGAAAAGTTAAAGTAACACACAAAAGGATGATATTAATAATATACAACTATAAAGTTATAGGCAAATGTCTTCAACAGAATGGTATTTGTATATAATAAAAGTATTATAAACACATATTGAACTGATTGGTGATCATACATAAAATGATAATTTCTATATTATTCACCGGGTGAAGTCATTAGCCAGAGCAGTTTTTTTCTTTAAATAGGCATCCCTCATTTCCTTTTTCTTTCTTTATTGAGACAGAGTCTCGCTCTGTCACCCACGCTGGAGAACAGTGGTGCTATCTTGGCTCACTGAAACCTCCACCT... |
Task1_train_21296 | 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; Familial thoracic aortic aneurysm and aortic dissection | AAGTACTTTGAAAAGTTAAAGTAACACACAAAAGGATGATATTAATAATATACAACTATAAAGTTATAGGCAAATGTCTTCAACAGAATGGTATTTGTATATAATAAAAGTATTATAAACACATATTGAACTGATTGGTGATCATACATAAAATGATAATTTCTATATTATTCACCGGGTGAAGTCATTAGCCAGAGCAGTTTTTTTCTTTAAATAGGCATCCCTCATTTCCTTTTTCTTTCTTTATTGAGACAGAGTCTCGCTCTGTCACCCACGCTGGAGAACAGTGGTGCTATCTTGGCTCACTGAAACCTCCACCT... | AAGTACTTTGAAAAGTTAAAGTAACACACAAAAGGATGATATTAATAATATACAACTATAAAGTTATAGGCAAATGTCTTCAACAGAATGGTATTTGTATATAATAAAAGTATTATAAACACATATTGAACTGATTGGTGATCATACATAAAATGATAATTTCTATATTATTCACCGGGTGAAGTCATTAGCCAGAGCAGTTTTTTTCTTTAAATAGGCATCCCTCATTTCCTTTTTCTTTCTTTATTGAGACAGAGTCTCGCTCTGTCACCCACGCTGGAGAACAGTGGTGCTATCTTGGCTCACTGAAACCTCCACCT... |
Task1_train_21297 | 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; not provided | CTTTGAAAAGTTAAAGTAACACACAAAAGGATGATATTAATAATATACAACTATAAAGTTATAGGCAAATGTCTTCAACAGAATGGTATTTGTATATAATAAAAGTATTATAAACACATATTGAACTGATTGGTGATCATACATAAAATGATAATTTCTATATTATTCACCGGGTGAAGTCATTAGCCAGAGCAGTTTTTTTCTTTAAATAGGCATCCCTCATTTCCTTTTTCTTTCTTTATTGAGACAGAGTCTCGCTCTGTCACCCACGCTGGAGAACAGTGGTGCTATCTTGGCTCACTGAAACCTCCACCTCCTGG... | CTTTGAAAAGTTAAAGTAACACACAAAAGGATGATATTAATAATATACAACTATAAAGTTATAGGCAAATGTCTTCAACAGAATGGTATTTGTATATAATAAAAGTATTATAAACACATATTGAACTGATTGGTGATCATACATAAAATGATAATTTCTATATTATTCACCGGGTGAAGTCATTAGCCAGAGCAGTTTTTTTCTTTAAATAGGCATCCCTCATTTCCTTTTTCTTTCTTTATTGAGACAGAGTCTCGCTCTGTCACCCACGCTGGAGAACAGTGGTGCTATCTTGGCTCACTGAAACCTCCACCTCCTGG... |
Task1_train_21298 | A sequence alteration has been identified in FBN1 (fibrillin 1) on Chromosome 15. Is it disease-inducing or harmless? | Pathogenic; Marfan syndrome | CAAATGTCTTCAACAGAATGGTATTTGTATATAATAAAAGTATTATAAACACATATTGAACTGATTGGTGATCATACATAAAATGATAATTTCTATATTATTCACCGGGTGAAGTCATTAGCCAGAGCAGTTTTTTTCTTTAAATAGGCATCCCTCATTTCCTTTTTCTTTCTTTATTGAGACAGAGTCTCGCTCTGTCACCCACGCTGGAGAACAGTGGTGCTATCTTGGCTCACTGAAACCTCCACCTCCTGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTATAGGCGCGCACCACCACGCA... | CAAATGTCTTCAACAGAATGGTATTTGTATATAATAAAAGTATTATAAACACATATTGAACTGATTGGTGATCATACATAAAATGATAATTTCTATATTATTCACCGGGTGAAGTCATTAGCCAGAGCAGTTTTTTTCTTTAAATAGGCATCCCTCATTTCCTTTTTCTTTCTTTATTGAGACAGAGTCTCGCTCTGTCACCCACGCTGGAGAACAGTGGTGCTATCTTGGCTCACTGAAACCTCCACCTCCTGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTATAGGCGCGCACCACCACGCA... |
Task1_train_21299 | 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 | CAAATGTCTTCAACAGAATGGTATTTGTATATAATAAAAGTATTATAAACACATATTGAACTGATTGGTGATCATACATAAAATGATAATTTCTATATTATTCACCGGGTGAAGTCATTAGCCAGAGCAGTTTTTTTCTTTAAATAGGCATCCCTCATTTCCTTTTTCTTTCTTTATTGAGACAGAGTCTCGCTCTGTCACCCACGCTGGAGAACAGTGGTGCTATCTTGGCTCACTGAAACCTCCACCTCCTGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTATAGGCGCGCACCACCACGCA... | CAAATGTCTTCAACAGAATGGTATTTGTATATAATAAAAGTATTATAAACACATATTGAACTGATTGGTGATCATACATAAAATGATAATTTCTATATTATTCACCGGGTGAAGTCATTAGCCAGAGCAGTTTTTTTCTTTAAATAGGCATCCCTCATTTCCTTTTTCTTTCTTTATTGAGACAGAGTCTCGCTCTGTCACCCACGCTGGAGAACAGTGGTGCTATCTTGGCTCACTGAAACCTCCACCTCCTGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTATAGGCGCGCACCACCACGCA... |
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