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_21400 | 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 | AATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTCTTCTGGGCATA... | AATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTCTTCTGGGCATA... |
Task1_train_21401 | 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 | AATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTCTTCTGGGCATA... | AATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTCTTCTGGGCATA... |
Task1_train_21402 | A genomic change on Chromosome 15 affects FBN1 (fibrillin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Marfan syndrome | AATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTCTTCTGGGCATA... | AATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTCTTCTGGGCATA... |
Task1_train_21403 | 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 | ATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTCTTCTGGGCATAA... | ATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTCTTCTGGGCATAA... |
Task1_train_21404 | 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 | ATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTCTTCTGGGCATAA... | ATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTCTTCTGGGCATAA... |
Task1_train_21405 | 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 | ATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTCTTCTGGGCATAAACTGTAGCTCTTTGGATGGC... | ATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTCTTCTGGGCATAAACTGTAGCTCTTTGGATGGC... |
Task1_train_21406 | 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 | ATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTCTTCTGGGCATAAACTGTAGCTCTTTGGATGGC... | ATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTCTTCTGGGCATAAACTGTAGCTCTTTGGATGGC... |
Task1_train_21407 | 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; not specified | AAAGCTTGTCATTCAAAGTTCTCCTCTACTGTGTTTCTGCCCATCCTTCTATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACTGGCTGGTCCTTGCCCCAGCTGAGTGCTCTCAATAACCAC... | AAAGCTTGTCATTCAAAGTTCTCCTCTACTGTGTTTCTGCCCATCCTTCTATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACTGGCTGGTCCTTGCCCCAGCTGAGTGCTCTCAATAACCAC... |
Task1_train_21408 | 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 | TCCTCTACTGTGTTTCTGCCCATCCTTCTATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACTGGCTGGTCCTTGCCCCAGCTGAGTGCTCTCAATAACCACCTCTCTTTGCTTATTTAACAG... | TCCTCTACTGTGTTTCTGCCCATCCTTCTATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACTGGCTGGTCCTTGCCCCAGCTGAGTGCTCTCAATAACCACCTCTCTTTGCTTATTTAACAG... |
Task1_train_21409 | 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 | CCTCTACTGTGTTTCTGCCCATCCTTCTATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACTGGCTGGTCCTTGCCCCAGCTGAGTGCTCTCAATAACCACCTCTCTTTGCTTATTTAACAGT... | CCTCTACTGTGTTTCTGCCCATCCTTCTATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACTGGCTGGTCCTTGCCCCAGCTGAGTGCTCTCAATAACCACCTCTCTTTGCTTATTTAACAGT... |
Task1_train_21410 | 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 | CCTCTACTGTGTTTCTGCCCATCCTTCTATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACTGGCTGGTCCTTGCCCCAGCTGAGTGCTCTCAATAACCACCTCTCTTTGCTTATTTAACAGT... | CCTCTACTGTGTTTCTGCCCATCCTTCTATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACTGGCTGGTCCTTGCCCCAGCTGAGTGCTCTCAATAACCACCTCTCTTTGCTTATTTAACAGT... |
Task1_train_21411 | 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 | CTGCCCATCCTTCTATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACTGGCTGGTCCTTGCCCCAGCTGAGTGCTCTCAATAACCACCTCTCTTTGCTTATTTAACAGTGCAGTCTCTGGACA... | CTGCCCATCCTTCTATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACTGGCTGGTCCTTGCCCCAGCTGAGTGCTCTCAATAACCACCTCTCTTTGCTTATTTAACAGTGCAGTCTCTGGACA... |
Task1_train_21412 | 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 | CTGCCCATCCTTCTATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACTGGCTGGTCCTTGCCCCAGCTGAGTGCTCTCAATAACCACCTCTCTTTGCTTATTTAACAGTGCAGTCTCTGGACA... | CTGCCCATCCTTCTATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACTGGCTGGTCCTTGCCCCAGCTGAGTGCTCTCAATAACCACCTCTCTTTGCTTATTTAACAGTGCAGTCTCTGGACA... |
Task1_train_21413 | 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 | CTGCCCATCCTTCTATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACTGGCTGGTCCTTGCCCCAGCTGAGTGCTCTCAATAACCACCTCTCTTTGCTTATTTAACAGTGCAGTCTCTGGACA... | CTGCCCATCCTTCTATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACTGGCTGGTCCTTGCCCCAGCTGAGTGCTCTCAATAACCACCTCTCTTTGCTTATTTAACAGTGCAGTCTCTGGACA... |
Task1_train_21414 | 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 | TGCCCATCCTTCTATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACTGGCTGGTCCTTGCCCCAGCTGAGTGCTCTCAATAACCACCTCTCTTTGCTTATTTAACAGTGCAGTCTCTGGACAT... | TGCCCATCCTTCTATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACTGGCTGGTCCTTGCCCCAGCTGAGTGCTCTCAATAACCACCTCTCTTTGCTTATTTAACAGTGCAGTCTCTGGACAT... |
Task1_train_21415 | 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 | TGCCCATCCTTCTATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACTGGCTGGTCCTTGCCCCAGCTGAGTGCTCTCAATAACCACCTCTCTTTGCTTATTTAACAGTGCAGTCTCTGGACAT... | TGCCCATCCTTCTATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACTGGCTGGTCCTTGCCCCAGCTGAGTGCTCTCAATAACCACCTCTCTTTGCTTATTTAACAGTGCAGTCTCTGGACAT... |
Task1_train_21416 | 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 | ATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACTGGCTGGTCCTTGCCCCAGCTGAGTGCTCTCAATAACCACCTCTCTTTGCTTATTTAACAGTGCAGTCTCTGGACATTGATTTCATTTTA... | ATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACTGGCTGGTCCTTGCCCCAGCTGAGTGCTCTCAATAACCACCTCTCTTTGCTTATTTAACAGTGCAGTCTCTGGACATTGATTTCATTTTA... |
Task1_train_21417 | 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 | ATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACTGGCTGGTCCTTGCCCCAGCTGAGTGCTCTCAATAACCACCTCTCTTTGCTTATTTAACAGTGCAGTCTCTGGACATTGATTTCATTTTA... | ATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACTGGCTGGTCCTTGCCCCAGCTGAGTGCTCTCAATAACCACCTCTCTTTGCTTATTTAACAGTGCAGTCTCTGGACATTGATTTCATTTTA... |
Task1_train_21418 | Consider this mutation in FBN1 (fibrillin 1) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; Marfan syndrome | TAGACGCATCTTATAAAATAACTTCAATGCTTGCCAGATTTTATGACACTGTCTTTCAGAATGACAATAGGTGGAACTAAGTTCAAAAAAGCCACGGGACTGTATTAGTCTCTTCCGGCATGGGTTATTTAAACTCCATGGAACTCCTTTGAAGCCAACCCCCAGTTAGCATATATGTCCCACATTCCACGTCAGGAGCCAGGACCATACCTCGGCATTCTGTCCGCGTGAGTGTGCTCTGATATCCAGCTCGGCACTGACAGGTGTACGAACCCTGGTTGTTAATACACTCACCACCAGCACAGGGGTTTTTCTCACAT... | TAGACGCATCTTATAAAATAACTTCAATGCTTGCCAGATTTTATGACACTGTCTTTCAGAATGACAATAGGTGGAACTAAGTTCAAAAAAGCCACGGGACTGTATTAGTCTCTTCCGGCATGGGTTATTTAAACTCCATGGAACTCCTTTGAAGCCAACCCCCAGTTAGCATATATGTCCCACATTCCACGTCAGGAGCCAGGACCATACCTCGGCATTCTGTCCGCGTGAGTGTGCTCTGATATCCAGCTCGGCACTGACAGGTGTACGAACCCTGGTTGTTAATACACTCACCACCAGCACAGGGGTTTTTCTCACAT... |
Task1_train_21419 | Gene FBN1 (fibrillin 1), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Marfan syndrome | ATGACACTGTCTTTCAGAATGACAATAGGTGGAACTAAGTTCAAAAAAGCCACGGGACTGTATTAGTCTCTTCCGGCATGGGTTATTTAAACTCCATGGAACTCCTTTGAAGCCAACCCCCAGTTAGCATATATGTCCCACATTCCACGTCAGGAGCCAGGACCATACCTCGGCATTCTGTCCGCGTGAGTGTGCTCTGATATCCAGCTCGGCACTGACAGGTGTACGAACCCTGGTTGTTAATACACTCACCACCAGCACAGGGGTTTTTCTCACATTCATCAACATCTGCAAAGCACAATGTATTTTAGTGCAAAATT... | ATGACACTGTCTTTCAGAATGACAATAGGTGGAACTAAGTTCAAAAAAGCCACGGGACTGTATTAGTCTCTTCCGGCATGGGTTATTTAAACTCCATGGAACTCCTTTGAAGCCAACCCCCAGTTAGCATATATGTCCCACATTCCACGTCAGGAGCCAGGACCATACCTCGGCATTCTGTCCGCGTGAGTGTGCTCTGATATCCAGCTCGGCACTGACAGGTGTACGAACCCTGGTTGTTAATACACTCACCACCAGCACAGGGGTTTTTCTCACATTCATCAACATCTGCAAAGCACAATGTATTTTAGTGCAAAATT... |
Task1_train_21420 | 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 | ATGACACTGTCTTTCAGAATGACAATAGGTGGAACTAAGTTCAAAAAAGCCACGGGACTGTATTAGTCTCTTCCGGCATGGGTTATTTAAACTCCATGGAACTCCTTTGAAGCCAACCCCCAGTTAGCATATATGTCCCACATTCCACGTCAGGAGCCAGGACCATACCTCGGCATTCTGTCCGCGTGAGTGTGCTCTGATATCCAGCTCGGCACTGACAGGTGTACGAACCCTGGTTGTTAATACACTCACCACCAGCACAGGGGTTTTTCTCACATTCATCAACATCTGCAAAGCACAATGTATTTTAGTGCAAAATT... | ATGACACTGTCTTTCAGAATGACAATAGGTGGAACTAAGTTCAAAAAAGCCACGGGACTGTATTAGTCTCTTCCGGCATGGGTTATTTAAACTCCATGGAACTCCTTTGAAGCCAACCCCCAGTTAGCATATATGTCCCACATTCCACGTCAGGAGCCAGGACCATACCTCGGCATTCTGTCCGCGTGAGTGTGCTCTGATATCCAGCTCGGCACTGACAGGTGTACGAACCCTGGTTGTTAATACACTCACCACCAGCACAGGGGTTTTTCTCACATTCATCAACATCTGCAAAGCACAATGTATTTTAGTGCAAAATT... |
Task1_train_21421 | 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; Familial thoracic aortic aneurysm and aortic dissection | ATGACACTGTCTTTCAGAATGACAATAGGTGGAACTAAGTTCAAAAAAGCCACGGGACTGTATTAGTCTCTTCCGGCATGGGTTATTTAAACTCCATGGAACTCCTTTGAAGCCAACCCCCAGTTAGCATATATGTCCCACATTCCACGTCAGGAGCCAGGACCATACCTCGGCATTCTGTCCGCGTGAGTGTGCTCTGATATCCAGCTCGGCACTGACAGGTGTACGAACCCTGGTTGTTAATACACTCACCACCAGCACAGGGGTTTTTCTCACATTCATCAACATCTGCAAAGCACAATGTATTTTAGTGCAAAATT... | ATGACACTGTCTTTCAGAATGACAATAGGTGGAACTAAGTTCAAAAAAGCCACGGGACTGTATTAGTCTCTTCCGGCATGGGTTATTTAAACTCCATGGAACTCCTTTGAAGCCAACCCCCAGTTAGCATATATGTCCCACATTCCACGTCAGGAGCCAGGACCATACCTCGGCATTCTGTCCGCGTGAGTGTGCTCTGATATCCAGCTCGGCACTGACAGGTGTACGAACCCTGGTTGTTAATACACTCACCACCAGCACAGGGGTTTTTCTCACATTCATCAACATCTGCAAAGCACAATGTATTTTAGTGCAAAATT... |
Task1_train_21422 | This alteration in FBN1 (fibrillin 1) on Chromosome 15 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not specified | ATGACACTGTCTTTCAGAATGACAATAGGTGGAACTAAGTTCAAAAAAGCCACGGGACTGTATTAGTCTCTTCCGGCATGGGTTATTTAAACTCCATGGAACTCCTTTGAAGCCAACCCCCAGTTAGCATATATGTCCCACATTCCACGTCAGGAGCCAGGACCATACCTCGGCATTCTGTCCGCGTGAGTGTGCTCTGATATCCAGCTCGGCACTGACAGGTGTACGAACCCTGGTTGTTAATACACTCACCACCAGCACAGGGGTTTTTCTCACATTCATCAACATCTGCAAAGCACAATGTATTTTAGTGCAAAATT... | ATGACACTGTCTTTCAGAATGACAATAGGTGGAACTAAGTTCAAAAAAGCCACGGGACTGTATTAGTCTCTTCCGGCATGGGTTATTTAAACTCCATGGAACTCCTTTGAAGCCAACCCCCAGTTAGCATATATGTCCCACATTCCACGTCAGGAGCCAGGACCATACCTCGGCATTCTGTCCGCGTGAGTGTGCTCTGATATCCAGCTCGGCACTGACAGGTGTACGAACCCTGGTTGTTAATACACTCACCACCAGCACAGGGGTTTTTCTCACATTCATCAACATCTGCAAAGCACAATGTATTTTAGTGCAAAATT... |
Task1_train_21423 | 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/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections | ATGACACTGTCTTTCAGAATGACAATAGGTGGAACTAAGTTCAAAAAAGCCACGGGACTGTATTAGTCTCTTCCGGCATGGGTTATTTAAACTCCATGGAACTCCTTTGAAGCCAACCCCCAGTTAGCATATATGTCCCACATTCCACGTCAGGAGCCAGGACCATACCTCGGCATTCTGTCCGCGTGAGTGTGCTCTGATATCCAGCTCGGCACTGACAGGTGTACGAACCCTGGTTGTTAATACACTCACCACCAGCACAGGGGTTTTTCTCACATTCATCAACATCTGCAAAGCACAATGTATTTTAGTGCAAAATT... | ATGACACTGTCTTTCAGAATGACAATAGGTGGAACTAAGTTCAAAAAAGCCACGGGACTGTATTAGTCTCTTCCGGCATGGGTTATTTAAACTCCATGGAACTCCTTTGAAGCCAACCCCCAGTTAGCATATATGTCCCACATTCCACGTCAGGAGCCAGGACCATACCTCGGCATTCTGTCCGCGTGAGTGTGCTCTGATATCCAGCTCGGCACTGACAGGTGTACGAACCCTGGTTGTTAATACACTCACCACCAGCACAGGGGTTTTTCTCACATTCATCAACATCTGCAAAGCACAATGTATTTTAGTGCAAAATT... |
Task1_train_21424 | Consider a variant on Chromosome 15 in gene FBN1, LOC113939944 (fibrillin 1| Sharpr-MPRA regulatory region 9539). Determine its clinical classification and disease relevance. | Pathogenic; Marfan syndrome | GCTAATTTTGTTAAGCTGATGTCCATCTTTCCTATCTCCACTTAACCCAAGATGATGCTGATTTATTTTTTAAAGAGTGAAAAGCTGGCCAATCTAAAATCCTTCCTGCATCACTCTCTGTAAGAGCCCAGATCTCTGTAGCACCAGTACTGGAACATTTGGACAAACAAAAACCTACCTGCAAGTTATTTTGCTCTATAAATCTGTTTTGCCCAAGGCCTCTGAGGGCTGTGCATCTCTCAGTGGTATACCTGGGAGGACAGCTCCCTGTAAAGCCACACACAGGAACCTGGTCTTCTGCTCCAACTGTCCCAAAGTAG... | GCTAATTTTGTTAAGCTGATGTCCATCTTTCCTATCTCCACTTAACCCAAGATGATGCTGATTTATTTTTTAAAGAGTGAAAAGCTGGCCAATCTAAAATCCTTCCTGCATCACTCTCTGTAAGAGCCCAGATCTCTGTAGCACCAGTACTGGAACATTTGGACAAACAAAAACCTACCTGCAAGTTATTTTGCTCTATAAATCTGTTTTGCCCAAGGCCTCTGAGGGCTGTGCATCTCTCAGTGGTATACCTGGGAGGACAGCTCCCTGTAAAGCCACACACAGGAACCTGGTCTTCTGCTCCAACTGTCCCAAAGTAG... |
Task1_train_21425 | A genetic alteration is present in FBN1, LOC113939944 (fibrillin 1| Sharpr-MPRA regulatory region 9539) 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 | GCTAATTTTGTTAAGCTGATGTCCATCTTTCCTATCTCCACTTAACCCAAGATGATGCTGATTTATTTTTTAAAGAGTGAAAAGCTGGCCAATCTAAAATCCTTCCTGCATCACTCTCTGTAAGAGCCCAGATCTCTGTAGCACCAGTACTGGAACATTTGGACAAACAAAAACCTACCTGCAAGTTATTTTGCTCTATAAATCTGTTTTGCCCAAGGCCTCTGAGGGCTGTGCATCTCTCAGTGGTATACCTGGGAGGACAGCTCCCTGTAAAGCCACACACAGGAACCTGGTCTTCTGCTCCAACTGTCCCAAAGTAG... | GCTAATTTTGTTAAGCTGATGTCCATCTTTCCTATCTCCACTTAACCCAAGATGATGCTGATTTATTTTTTAAAGAGTGAAAAGCTGGCCAATCTAAAATCCTTCCTGCATCACTCTCTGTAAGAGCCCAGATCTCTGTAGCACCAGTACTGGAACATTTGGACAAACAAAAACCTACCTGCAAGTTATTTTGCTCTATAAATCTGTTTTGCCCAAGGCCTCTGAGGGCTGTGCATCTCTCAGTGGTATACCTGGGAGGACAGCTCCCTGTAAAGCCACACACAGGAACCTGGTCTTCTGCTCCAACTGTCCCAAAGTAG... |
Task1_train_21426 | Gene FBN1, LOC113939944 (fibrillin 1| Sharpr-MPRA regulatory region 9539) on Chromosome 15 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Marfan syndrome | TAAAGAGTGAAAAGCTGGCCAATCTAAAATCCTTCCTGCATCACTCTCTGTAAGAGCCCAGATCTCTGTAGCACCAGTACTGGAACATTTGGACAAACAAAAACCTACCTGCAAGTTATTTTGCTCTATAAATCTGTTTTGCCCAAGGCCTCTGAGGGCTGTGCATCTCTCAGTGGTATACCTGGGAGGACAGCTCCCTGTAAAGCCACACACAGGAACCTGGTCTTCTGCTCCAACTGTCCCAAAGTAGGTCTTCCTGCAGGCACCTAAACCTGCTCTAGTCCTCTTCTCTATTCAAAGCCTCAACACAGGAAGGAATC... | TAAAGAGTGAAAAGCTGGCCAATCTAAAATCCTTCCTGCATCACTCTCTGTAAGAGCCCAGATCTCTGTAGCACCAGTACTGGAACATTTGGACAAACAAAAACCTACCTGCAAGTTATTTTGCTCTATAAATCTGTTTTGCCCAAGGCCTCTGAGGGCTGTGCATCTCTCAGTGGTATACCTGGGAGGACAGCTCCCTGTAAAGCCACACACAGGAACCTGGTCTTCTGCTCCAACTGTCCCAAAGTAGGTCTTCCTGCAGGCACCTAAACCTGCTCTAGTCCTCTTCTCTATTCAAAGCCTCAACACAGGAAGGAATC... |
Task1_train_21427 | The gene FBN1, LOC113939944 (fibrillin 1| Sharpr-MPRA regulatory region 9539) 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 | TAAAGAGTGAAAAGCTGGCCAATCTAAAATCCTTCCTGCATCACTCTCTGTAAGAGCCCAGATCTCTGTAGCACCAGTACTGGAACATTTGGACAAACAAAAACCTACCTGCAAGTTATTTTGCTCTATAAATCTGTTTTGCCCAAGGCCTCTGAGGGCTGTGCATCTCTCAGTGGTATACCTGGGAGGACAGCTCCCTGTAAAGCCACACACAGGAACCTGGTCTTCTGCTCCAACTGTCCCAAAGTAGGTCTTCCTGCAGGCACCTAAACCTGCTCTAGTCCTCTTCTCTATTCAAAGCCTCAACACAGGAAGGAATC... | TAAAGAGTGAAAAGCTGGCCAATCTAAAATCCTTCCTGCATCACTCTCTGTAAGAGCCCAGATCTCTGTAGCACCAGTACTGGAACATTTGGACAAACAAAAACCTACCTGCAAGTTATTTTGCTCTATAAATCTGTTTTGCCCAAGGCCTCTGAGGGCTGTGCATCTCTCAGTGGTATACCTGGGAGGACAGCTCCCTGTAAAGCCACACACAGGAACCTGGTCTTCTGCTCCAACTGTCCCAAAGTAGGTCTTCCTGCAGGCACCTAAACCTGCTCTAGTCCTCTTCTCTATTCAAAGCCTCAACACAGGAAGGAATC... |
Task1_train_21428 | 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 | AAAGTGATTGCTGTTTATAAGATCTCAACCTGTGTTCTTGAGAAAAGTCAGCATGCAGTAAAAGGGATATTAAAGAAACAACAATTTAGTTTATTATAAAAGTATCACTTACTGTTTTAAATGAAATATCTTAACCCACAGATACATGATTATATGTGGAAAATCATTAAATTATGTTTTCTAGCCAATTTCAGTTTTGTCTTAGACCAGAATTTTCCATTCTCTTGATGTGTTGAATGTATTTTTTAAAATGTTTTTGAAAATCAAGATTTTTACATATAGGCAGAACTAGCTGTCTTGTTGATCATGATTTCTGGCCA... | AAAGTGATTGCTGTTTATAAGATCTCAACCTGTGTTCTTGAGAAAAGTCAGCATGCAGTAAAAGGGATATTAAAGAAACAACAATTTAGTTTATTATAAAAGTATCACTTACTGTTTTAAATGAAATATCTTAACCCACAGATACATGATTATATGTGGAAAATCATTAAATTATGTTTTCTAGCCAATTTCAGTTTTGTCTTAGACCAGAATTTTCCATTCTCTTGATGTGTTGAATGTATTTTTTAAAATGTTTTTGAAAATCAAGATTTTTACATATAGGCAGAACTAGCTGTCTTGTTGATCATGATTTCTGGCCA... |
Task1_train_21429 | 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; Familial thoracic aortic aneurysm and aortic dissection | AAAGTGATTGCTGTTTATAAGATCTCAACCTGTGTTCTTGAGAAAAGTCAGCATGCAGTAAAAGGGATATTAAAGAAACAACAATTTAGTTTATTATAAAAGTATCACTTACTGTTTTAAATGAAATATCTTAACCCACAGATACATGATTATATGTGGAAAATCATTAAATTATGTTTTCTAGCCAATTTCAGTTTTGTCTTAGACCAGAATTTTCCATTCTCTTGATGTGTTGAATGTATTTTTTAAAATGTTTTTGAAAATCAAGATTTTTACATATAGGCAGAACTAGCTGTCTTGTTGATCATGATTTCTGGCCA... | AAAGTGATTGCTGTTTATAAGATCTCAACCTGTGTTCTTGAGAAAAGTCAGCATGCAGTAAAAGGGATATTAAAGAAACAACAATTTAGTTTATTATAAAAGTATCACTTACTGTTTTAAATGAAATATCTTAACCCACAGATACATGATTATATGTGGAAAATCATTAAATTATGTTTTCTAGCCAATTTCAGTTTTGTCTTAGACCAGAATTTTCCATTCTCTTGATGTGTTGAATGTATTTTTTAAAATGTTTTTGAAAATCAAGATTTTTACATATAGGCAGAACTAGCTGTCTTGTTGATCATGATTTCTGGCCA... |
Task1_train_21430 | A sequence alteration has been identified in FBN1 (fibrillin 1) on Chromosome 15. Is it disease-inducing or harmless? | Pathogenic; Marfan syndrome | AAAGTGATTGCTGTTTATAAGATCTCAACCTGTGTTCTTGAGAAAAGTCAGCATGCAGTAAAAGGGATATTAAAGAAACAACAATTTAGTTTATTATAAAAGTATCACTTACTGTTTTAAATGAAATATCTTAACCCACAGATACATGATTATATGTGGAAAATCATTAAATTATGTTTTCTAGCCAATTTCAGTTTTGTCTTAGACCAGAATTTTCCATTCTCTTGATGTGTTGAATGTATTTTTTAAAATGTTTTTGAAAATCAAGATTTTTACATATAGGCAGAACTAGCTGTCTTGTTGATCATGATTTCTGGCCA... | AAAGTGATTGCTGTTTATAAGATCTCAACCTGTGTTCTTGAGAAAAGTCAGCATGCAGTAAAAGGGATATTAAAGAAACAACAATTTAGTTTATTATAAAAGTATCACTTACTGTTTTAAATGAAATATCTTAACCCACAGATACATGATTATATGTGGAAAATCATTAAATTATGTTTTCTAGCCAATTTCAGTTTTGTCTTAGACCAGAATTTTCCATTCTCTTGATGTGTTGAATGTATTTTTTAAAATGTTTTTGAAAATCAAGATTTTTACATATAGGCAGAACTAGCTGTCTTGTTGATCATGATTTCTGGCCA... |
Task1_train_21431 | This variant impacts the gene FBN1 (fibrillin 1) on Chromosome 15. Is the change likely to result in a pathogenic outcome? | Pathogenic; Marfan syndrome | AGTCAGCATGCAGTAAAAGGGATATTAAAGAAACAACAATTTAGTTTATTATAAAAGTATCACTTACTGTTTTAAATGAAATATCTTAACCCACAGATACATGATTATATGTGGAAAATCATTAAATTATGTTTTCTAGCCAATTTCAGTTTTGTCTTAGACCAGAATTTTCCATTCTCTTGATGTGTTGAATGTATTTTTTAAAATGTTTTTGAAAATCAAGATTTTTACATATAGGCAGAACTAGCTGTCTTGTTGATCATGATTTCTGGCCAACAGAAAATATAGACAAGGCAATTCTCCACTGGCTGTATACTCCA... | AGTCAGCATGCAGTAAAAGGGATATTAAAGAAACAACAATTTAGTTTATTATAAAAGTATCACTTACTGTTTTAAATGAAATATCTTAACCCACAGATACATGATTATATGTGGAAAATCATTAAATTATGTTTTCTAGCCAATTTCAGTTTTGTCTTAGACCAGAATTTTCCATTCTCTTGATGTGTTGAATGTATTTTTTAAAATGTTTTTGAAAATCAAGATTTTTACATATAGGCAGAACTAGCTGTCTTGTTGATCATGATTTCTGGCCAACAGAAAATATAGACAAGGCAATTCTCCACTGGCTGTATACTCCA... |
Task1_train_21432 | 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 | AGTCAGCATGCAGTAAAAGGGATATTAAAGAAACAACAATTTAGTTTATTATAAAAGTATCACTTACTGTTTTAAATGAAATATCTTAACCCACAGATACATGATTATATGTGGAAAATCATTAAATTATGTTTTCTAGCCAATTTCAGTTTTGTCTTAGACCAGAATTTTCCATTCTCTTGATGTGTTGAATGTATTTTTTAAAATGTTTTTGAAAATCAAGATTTTTACATATAGGCAGAACTAGCTGTCTTGTTGATCATGATTTCTGGCCAACAGAAAATATAGACAAGGCAATTCTCCACTGGCTGTATACTCCA... | AGTCAGCATGCAGTAAAAGGGATATTAAAGAAACAACAATTTAGTTTATTATAAAAGTATCACTTACTGTTTTAAATGAAATATCTTAACCCACAGATACATGATTATATGTGGAAAATCATTAAATTATGTTTTCTAGCCAATTTCAGTTTTGTCTTAGACCAGAATTTTCCATTCTCTTGATGTGTTGAATGTATTTTTTAAAATGTTTTTGAAAATCAAGATTTTTACATATAGGCAGAACTAGCTGTCTTGTTGATCATGATTTCTGGCCAACAGAAAATATAGACAAGGCAATTCTCCACTGGCTGTATACTCCA... |
Task1_train_21433 | 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 | TACCCGTGGGTAAAACAGGCAGTGGGTAGATGGCACTACCCTTCTGCTACTAACGGGCAAGCCTGCCTTCTGCTCTCCAGTCTCCACTACCACAAATGCCTGAAAATCTGCCACTTGGGGATGAATTTGATTTTGAAAATCACCACTGGGAAAATTCTATGGAGTCAACAGATATTTACACCTTAGTGCAGATTTCAGGATAGCCCTTTTTCCTGAAGGGGAGCAGTTGAAGACACCCCCAAACTTGGAGAAACCTCTGAGTAACATGCCAGTTTTGATTAGTAGCTTAGTAATTTAACCCATTCAGGACATTTCTTAAT... | TACCCGTGGGTAAAACAGGCAGTGGGTAGATGGCACTACCCTTCTGCTACTAACGGGCAAGCCTGCCTTCTGCTCTCCAGTCTCCACTACCACAAATGCCTGAAAATCTGCCACTTGGGGATGAATTTGATTTTGAAAATCACCACTGGGAAAATTCTATGGAGTCAACAGATATTTACACCTTAGTGCAGATTTCAGGATAGCCCTTTTTCCTGAAGGGGAGCAGTTGAAGACACCCCCAAACTTGGAGAAACCTCTGAGTAACATGCCAGTTTTGATTAGTAGCTTAGTAATTTAACCCATTCAGGACATTTCTTAAT... |
Task1_train_21434 | 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 | TACCCGTGGGTAAAACAGGCAGTGGGTAGATGGCACTACCCTTCTGCTACTAACGGGCAAGCCTGCCTTCTGCTCTCCAGTCTCCACTACCACAAATGCCTGAAAATCTGCCACTTGGGGATGAATTTGATTTTGAAAATCACCACTGGGAAAATTCTATGGAGTCAACAGATATTTACACCTTAGTGCAGATTTCAGGATAGCCCTTTTTCCTGAAGGGGAGCAGTTGAAGACACCCCCAAACTTGGAGAAACCTCTGAGTAACATGCCAGTTTTGATTAGTAGCTTAGTAATTTAACCCATTCAGGACATTTCTTAAT... | TACCCGTGGGTAAAACAGGCAGTGGGTAGATGGCACTACCCTTCTGCTACTAACGGGCAAGCCTGCCTTCTGCTCTCCAGTCTCCACTACCACAAATGCCTGAAAATCTGCCACTTGGGGATGAATTTGATTTTGAAAATCACCACTGGGAAAATTCTATGGAGTCAACAGATATTTACACCTTAGTGCAGATTTCAGGATAGCCCTTTTTCCTGAAGGGGAGCAGTTGAAGACACCCCCAAACTTGGAGAAACCTCTGAGTAACATGCCAGTTTTGATTAGTAGCTTAGTAATTTAACCCATTCAGGACATTTCTTAAT... |
Task1_train_21435 | 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 | AAGTGAAGGGTAATAAGGTTGGTATTTCACAAGAGTAAACACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTC... | AAGTGAAGGGTAATAAGGTTGGTATTTCACAAGAGTAAACACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTC... |
Task1_train_21436 | 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 | AAGTGAAGGGTAATAAGGTTGGTATTTCACAAGAGTAAACACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTC... | AAGTGAAGGGTAATAAGGTTGGTATTTCACAAGAGTAAACACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTC... |
Task1_train_21437 | 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 | AAGTGAAGGGTAATAAGGTTGGTATTTCACAAGAGTAAACACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTC... | AAGTGAAGGGTAATAAGGTTGGTATTTCACAAGAGTAAACACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTC... |
Task1_train_21438 | Consider a variant on Chromosome 15 in gene FBN1 (fibrillin 1). Determine its clinical classification and disease relevance. | Pathogenic; Marfan syndrome | AGTGAAGGGTAATAAGGTTGGTATTTCACAAGAGTAAACACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCT... | AGTGAAGGGTAATAAGGTTGGTATTTCACAAGAGTAAACACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCT... |
Task1_train_21439 | 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 | AGTGAAGGGTAATAAGGTTGGTATTTCACAAGAGTAAACACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCT... | AGTGAAGGGTAATAAGGTTGGTATTTCACAAGAGTAAACACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCT... |
Task1_train_21440 | 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 | GGGTAATAAGGTTGGTATTTCACAAGAGTAAACACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTA... | GGGTAATAAGGTTGGTATTTCACAAGAGTAAACACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTA... |
Task1_train_21441 | 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 | GGGTAATAAGGTTGGTATTTCACAAGAGTAAACACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTA... | GGGTAATAAGGTTGGTATTTCACAAGAGTAAACACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTA... |
Task1_train_21442 | 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 | GTATTTCACAAGAGTAAACACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAA... | GTATTTCACAAGAGTAAACACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAA... |
Task1_train_21443 | 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 | GTATTTCACAAGAGTAAACACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAA... | GTATTTCACAAGAGTAAACACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAA... |
Task1_train_21444 | 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; Familial thoracic aortic aneurysm and aortic dissection | GTATTTCACAAGAGTAAACACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAA... | GTATTTCACAAGAGTAAACACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAA... |
Task1_train_21445 | 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 | GTATTTCACAAGAGTAAACACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAA... | GTATTTCACAAGAGTAAACACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAA... |
Task1_train_21446 | 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 | TATTTCACAAGAGTAAACACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAG... | TATTTCACAAGAGTAAACACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAG... |
Task1_train_21447 | 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 | CACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATA... | CACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATA... |
Task1_train_21448 | 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 | CACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATA... | CACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATA... |
Task1_train_21449 | 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 | CACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATA... | CACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATA... |
Task1_train_21450 | 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; MASS syndrome | CACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATA... | CACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATA... |
Task1_train_21451 | 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; Weill-Marchesani syndrome 2, dominant | CACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATA... | CACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATA... |
Task1_train_21452 | 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; Progeroid and marfanoid aspect-lipodystrophy syndrome | CACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATA... | CACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATA... |
Task1_train_21453 | A sequence alteration has been identified in FBN1 (fibrillin 1) on Chromosome 15. Is it disease-inducing or harmless? | Pathogenic; Ectopia lentis 1, isolated, autosomal dominant | CACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATA... | CACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATA... |
Task1_train_21454 | Here’s a variant in FBN1 (fibrillin 1) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Acromicric dysplasia | CACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATA... | CACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATA... |
Task1_train_21455 | The gene FBN1 (fibrillin 1), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Stiff skin syndrome | CACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATA... | CACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATA... |
Task1_train_21456 | A variant affecting Chromosome 15, within the gene FBN1 (fibrillin 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Geleophysic dysplasia 2 | CACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATA... | CACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATA... |
Task1_train_21457 | Consider this mutation in FBN1 (fibrillin 1) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; Marfan syndrome | CACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATA... | CACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATA... |
Task1_train_21458 | 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 | CACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATA... | CACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATA... |
Task1_train_21459 | 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 | CACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATA... | CACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATA... |
Task1_train_21460 | 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 | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... |
Task1_train_21461 | The gene FBN1 (fibrillin 1), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; MASS syndrome | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... |
Task1_train_21462 | 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; Weill-Marchesani syndrome 2, dominant | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... |
Task1_train_21463 | 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; Geleophysic dysplasia 2 | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... |
Task1_train_21464 | 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 | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... |
Task1_train_21465 | This variant affects gene FBN1 (fibrillin 1) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Acromicric dysplasia | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... |
Task1_train_21466 | This variant affects gene FBN1 (fibrillin 1) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Ectopia lentis 1, isolated, autosomal dominant | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... |
Task1_train_21467 | Consider a variant on Chromosome 15 in gene FBN1 (fibrillin 1). Determine its clinical classification and disease relevance. | Pathogenic; Progeroid and marfanoid aspect-lipodystrophy syndrome | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... |
Task1_train_21468 | 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; Stiff skin syndrome | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... |
Task1_train_21469 | A variant affecting Chromosome 15, within the gene FBN1 (fibrillin 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Aortic dissection | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... |
Task1_train_21470 | 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; Arachnodactyly | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... |
Task1_train_21471 | 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; High palate | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... |
Task1_train_21472 | Consider this mutation in FBN1 (fibrillin 1) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; Lens subluxation | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... |
Task1_train_21473 | 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 | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... |
Task1_train_21474 | 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 | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... |
Task1_train_21475 | 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 | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... |
Task1_train_21476 | 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; not specified | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... | TGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGG... |
Task1_train_21477 | 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 | ACCACCCACAGTCTTGGATTTTAGTCTCTAGACTAAATCTGGCCCCAGGACCTTACTACTATACTCGTCACACCCCACAGTTAACTTGGATTCTACCAGGACCATGGCTTTTCCCTCTGGTCTTGTTAACATCCTGTCTCCACATCTCATGATTTCTACTCGATAGAGAAGTCATTATCAGTTCACATTATCATTGAAGACCTTCCCAACTTAATACCCAGTTTTGCCATCTGGCTATATTTCTTCCCCCAGAGGAGTGCAATGTTGTTAGTTGGTTCAGGGACCAATCTGAGAGATGGGGTCTATTCCCAACTTTATAA... | ACCACCCACAGTCTTGGATTTTAGTCTCTAGACTAAATCTGGCCCCAGGACCTTACTACTATACTCGTCACACCCCACAGTTAACTTGGATTCTACCAGGACCATGGCTTTTCCCTCTGGTCTTGTTAACATCCTGTCTCCACATCTCATGATTTCTACTCGATAGAGAAGTCATTATCAGTTCACATTATCATTGAAGACCTTCCCAACTTAATACCCAGTTTTGCCATCTGGCTATATTTCTTCCCCCAGAGGAGTGCAATGTTGTTAGTTGGTTCAGGGACCAATCTGAGAGATGGGGTCTATTCCCAACTTTATAA... |
Task1_train_21478 | 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 | ACCACCCACAGTCTTGGATTTTAGTCTCTAGACTAAATCTGGCCCCAGGACCTTACTACTATACTCGTCACACCCCACAGTTAACTTGGATTCTACCAGGACCATGGCTTTTCCCTCTGGTCTTGTTAACATCCTGTCTCCACATCTCATGATTTCTACTCGATAGAGAAGTCATTATCAGTTCACATTATCATTGAAGACCTTCCCAACTTAATACCCAGTTTTGCCATCTGGCTATATTTCTTCCCCCAGAGGAGTGCAATGTTGTTAGTTGGTTCAGGGACCAATCTGAGAGATGGGGTCTATTCCCAACTTTATAA... | ACCACCCACAGTCTTGGATTTTAGTCTCTAGACTAAATCTGGCCCCAGGACCTTACTACTATACTCGTCACACCCCACAGTTAACTTGGATTCTACCAGGACCATGGCTTTTCCCTCTGGTCTTGTTAACATCCTGTCTCCACATCTCATGATTTCTACTCGATAGAGAAGTCATTATCAGTTCACATTATCATTGAAGACCTTCCCAACTTAATACCCAGTTTTGCCATCTGGCTATATTTCTTCCCCCAGAGGAGTGCAATGTTGTTAGTTGGTTCAGGGACCAATCTGAGAGATGGGGTCTATTCCCAACTTTATAA... |
Task1_train_21479 | 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 | CTAAATCTGGCCCCAGGACCTTACTACTATACTCGTCACACCCCACAGTTAACTTGGATTCTACCAGGACCATGGCTTTTCCCTCTGGTCTTGTTAACATCCTGTCTCCACATCTCATGATTTCTACTCGATAGAGAAGTCATTATCAGTTCACATTATCATTGAAGACCTTCCCAACTTAATACCCAGTTTTGCCATCTGGCTATATTTCTTCCCCCAGAGGAGTGCAATGTTGTTAGTTGGTTCAGGGACCAATCTGAGAGATGGGGTCTATTCCCAACTTTATAACTGCACTTCTTTTCCAACCCTGAGATGCTTAT... | CTAAATCTGGCCCCAGGACCTTACTACTATACTCGTCACACCCCACAGTTAACTTGGATTCTACCAGGACCATGGCTTTTCCCTCTGGTCTTGTTAACATCCTGTCTCCACATCTCATGATTTCTACTCGATAGAGAAGTCATTATCAGTTCACATTATCATTGAAGACCTTCCCAACTTAATACCCAGTTTTGCCATCTGGCTATATTTCTTCCCCCAGAGGAGTGCAATGTTGTTAGTTGGTTCAGGGACCAATCTGAGAGATGGGGTCTATTCCCAACTTTATAACTGCACTTCTTTTCCAACCCTGAGATGCTTAT... |
Task1_train_21480 | 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 | CTAAATCTGGCCCCAGGACCTTACTACTATACTCGTCACACCCCACAGTTAACTTGGATTCTACCAGGACCATGGCTTTTCCCTCTGGTCTTGTTAACATCCTGTCTCCACATCTCATGATTTCTACTCGATAGAGAAGTCATTATCAGTTCACATTATCATTGAAGACCTTCCCAACTTAATACCCAGTTTTGCCATCTGGCTATATTTCTTCCCCCAGAGGAGTGCAATGTTGTTAGTTGGTTCAGGGACCAATCTGAGAGATGGGGTCTATTCCCAACTTTATAACTGCACTTCTTTTCCAACCCTGAGATGCTTAT... | CTAAATCTGGCCCCAGGACCTTACTACTATACTCGTCACACCCCACAGTTAACTTGGATTCTACCAGGACCATGGCTTTTCCCTCTGGTCTTGTTAACATCCTGTCTCCACATCTCATGATTTCTACTCGATAGAGAAGTCATTATCAGTTCACATTATCATTGAAGACCTTCCCAACTTAATACCCAGTTTTGCCATCTGGCTATATTTCTTCCCCCAGAGGAGTGCAATGTTGTTAGTTGGTTCAGGGACCAATCTGAGAGATGGGGTCTATTCCCAACTTTATAACTGCACTTCTTTTCCAACCCTGAGATGCTTAT... |
Task1_train_21481 | 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 | TACTCATTTTCAAAACAAGTCTATTGAACTAAATAAACTCTGGCTTTAAAATCCACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCT... | TACTCATTTTCAAAACAAGTCTATTGAACTAAATAAACTCTGGCTTTAAAATCCACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCT... |
Task1_train_21482 | 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; Familial thoracic aortic aneurysm and aortic dissection | TACTCATTTTCAAAACAAGTCTATTGAACTAAATAAACTCTGGCTTTAAAATCCACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCT... | TACTCATTTTCAAAACAAGTCTATTGAACTAAATAAACTCTGGCTTTAAAATCCACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCT... |
Task1_train_21483 | 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 | AACTAAATAAACTCTGGCTTTAAAATCCACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA... | AACTAAATAAACTCTGGCTTTAAAATCCACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA... |
Task1_train_21484 | 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 | ACTAAATAAACTCTGGCTTTAAAATCCACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAG... | ACTAAATAAACTCTGGCTTTAAAATCCACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAG... |
Task1_train_21485 | 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 | ACTAAATAAACTCTGGCTTTAAAATCCACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAG... | ACTAAATAAACTCTGGCTTTAAAATCCACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAG... |
Task1_train_21486 | 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 | AACTCTGGCTTTAAAATCCACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAA... | AACTCTGGCTTTAAAATCCACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAA... |
Task1_train_21487 | 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 | AACTCTGGCTTTAAAATCCACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAA... | AACTCTGGCTTTAAAATCCACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAA... |
Task1_train_21488 | 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 | ACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCT... | ACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCT... |
Task1_train_21489 | 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 | ACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCT... | ACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCT... |
Task1_train_21490 | An alteration has been detected in FBN1 (fibrillin 1) on Chromosome 15. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Geleophysic dysplasia 2 | ACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCT... | ACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCT... |
Task1_train_21491 | A sequence alteration has been identified in FBN1 (fibrillin 1) on Chromosome 15. Is it disease-inducing or harmless? | Pathogenic; Ectopia lentis 1, isolated, autosomal dominant | ACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCT... | ACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCT... |
Task1_train_21492 | 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 | ACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCT... | ACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCT... |
Task1_train_21493 | This gene mutation involves FBN1 (fibrillin 1) on Chromosome 15. Is it associated with any clinical condition, or is it benign? | Pathogenic; Weill-Marchesani syndrome 2, dominant | ACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCT... | ACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCT... |
Task1_train_21494 | 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; MASS syndrome | ACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCT... | ACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCT... |
Task1_train_21495 | This gene mutation involves FBN1 (fibrillin 1) on Chromosome 15. Is it associated with any clinical condition, or is it benign? | Pathogenic; Stiff skin syndrome | ACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCT... | ACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCT... |
Task1_train_21496 | 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; Acromicric dysplasia | ACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCT... | ACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCT... |
Task1_train_21497 | This alteration in FBN1 (fibrillin 1) on Chromosome 15 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Progeroid and marfanoid aspect-lipodystrophy syndrome | ACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCT... | ACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCT... |
Task1_train_21498 | A genomic change on Chromosome 15 affects FBN1 (fibrillin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Marfan syndrome | ACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCT... | ACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCT... |
Task1_train_21499 | 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 | ACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCT... | ACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCT... |
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