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_21000 | 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 | CATTTATTTCAGTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAAATTAAGTGTCTTAGTTTGCCCCCTTCGACACCAATGAAAT... | CATTTATTTCAGTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAAATTAAGTGTCTTAGTTTGCCCCCTTCGACACCAATGAAAT... |
Task1_train_21001 | 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 | GTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAAATTAAGTGTCTTAGTTTGCCCCCTTCGACACCAATGAAATGAAAAGTCCTC... | GTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAAATTAAGTGTCTTAGTTTGCCCCCTTCGACACCAATGAAATGAAAAGTCCTC... |
Task1_train_21002 | A sequence alteration has been identified in FBN1 (fibrillin 1) on Chromosome 15. Is it disease-inducing or harmless? | Pathogenic; Marfan syndrome | GTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAAATTAAGTGTCTTAGTTTGCCCCCTTCGACACCAATGAAATGAAAAGTCCTC... | GTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAAATTAAGTGTCTTAGTTTGCCCCCTTCGACACCAATGAAATGAAAAGTCCTC... |
Task1_train_21003 | 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 | GTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAAATTAAGTGTCTTAGTTTGCCCCCTTCGACACCAATGAAATGAAAAGTCCTC... | GTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAAATTAAGTGTCTTAGTTTGCCCCCTTCGACACCAATGAAATGAAAAGTCCTC... |
Task1_train_21004 | Consider this mutation in FBN1 (fibrillin 1) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; Marfan syndrome | ACATCACCATAAAAGAACAGGGCCCAATCTAGAGCTCCAAACAAGAATTTTAAAGCTACTAGTTATAACTACATCTAGAAATGCAGTCTTCCACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTA... | ACATCACCATAAAAGAACAGGGCCCAATCTAGAGCTCCAAACAAGAATTTTAAAGCTACTAGTTATAACTACATCTAGAAATGCAGTCTTCCACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTA... |
Task1_train_21005 | 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 | CCATAAAAGAACAGGGCCCAATCTAGAGCTCCAAACAAGAATTTTAAAGCTACTAGTTATAACTACATCTAGAAATGCAGTCTTCCACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATA... | CCATAAAAGAACAGGGCCCAATCTAGAGCTCCAAACAAGAATTTTAAAGCTACTAGTTATAACTACATCTAGAAATGCAGTCTTCCACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATA... |
Task1_train_21006 | 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 | CCATAAAAGAACAGGGCCCAATCTAGAGCTCCAAACAAGAATTTTAAAGCTACTAGTTATAACTACATCTAGAAATGCAGTCTTCCACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATA... | CCATAAAAGAACAGGGCCCAATCTAGAGCTCCAAACAAGAATTTTAAAGCTACTAGTTATAACTACATCTAGAAATGCAGTCTTCCACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATA... |
Task1_train_21007 | 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 | CCATAAAAGAACAGGGCCCAATCTAGAGCTCCAAACAAGAATTTTAAAGCTACTAGTTATAACTACATCTAGAAATGCAGTCTTCCACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATA... | CCATAAAAGAACAGGGCCCAATCTAGAGCTCCAAACAAGAATTTTAAAGCTACTAGTTATAACTACATCTAGAAATGCAGTCTTCCACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATA... |
Task1_train_21008 | This variant impacts the gene FBN1 (fibrillin 1) on Chromosome 15. Is the change likely to result in a pathogenic outcome? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CCATAAAAGAACAGGGCCCAATCTAGAGCTCCAAACAAGAATTTTAAAGCTACTAGTTATAACTACATCTAGAAATGCAGTCTTCCACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATA... | CCATAAAAGAACAGGGCCCAATCTAGAGCTCCAAACAAGAATTTTAAAGCTACTAGTTATAACTACATCTAGAAATGCAGTCTTCCACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATA... |
Task1_train_21009 | 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 | AATTTTAAAGCTACTAGTTATAACTACATCTAGAAATGCAGTCTTCCACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTC... | AATTTTAAAGCTACTAGTTATAACTACATCTAGAAATGCAGTCTTCCACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTC... |
Task1_train_21010 | Consider a variant on Chromosome 15 in gene FBN1 (fibrillin 1). Determine its clinical classification and disease relevance. | Pathogenic; Marfan syndrome | AATTTTAAAGCTACTAGTTATAACTACATCTAGAAATGCAGTCTTCCACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTC... | AATTTTAAAGCTACTAGTTATAACTACATCTAGAAATGCAGTCTTCCACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTC... |
Task1_train_21011 | 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 | GAAATGCAGTCTTCCACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATG... | GAAATGCAGTCTTCCACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATG... |
Task1_train_21012 | 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 | GAAATGCAGTCTTCCACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATG... | GAAATGCAGTCTTCCACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATG... |
Task1_train_21013 | Consider this mutation in FBN1 (fibrillin 1) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; Marfan syndrome | AAATGCAGTCTTCCACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG... | AAATGCAGTCTTCCACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG... |
Task1_train_21014 | 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 | AAATGCAGTCTTCCACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG... | AAATGCAGTCTTCCACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG... |
Task1_train_21015 | 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 | ACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAG... | ACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAG... |
Task1_train_21016 | 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; See cases | ACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAG... | ACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAG... |
Task1_train_21017 | 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; Marfan syndrome | ACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAG... | ACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAG... |
Task1_train_21018 | Here is a genetic alteration in FBN1 (fibrillin 1) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Marfan syndrome | CTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGC... | CTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGC... |
Task1_train_21019 | 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 | CTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGC... | CTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGC... |
Task1_train_21020 | This mutation is located in gene FBN1, LOC126862124 (fibrillin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Marfan syndrome | ATTCTTAATACTTCCCCCTTGCTTTTCTTGTCTTCTGTGACGGCCCTTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAAT... | ATTCTTAATACTTCCCCCTTGCTTTTCTTGTCTTCTGTGACGGCCCTTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAAT... |
Task1_train_21021 | With a mutation on Chromosome 15 in gene FBN1, LOC126862124 (fibrillin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | ATTCTTAATACTTCCCCCTTGCTTTTCTTGTCTTCTGTGACGGCCCTTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAAT... | ATTCTTAATACTTCCCCCTTGCTTTTCTTGTCTTCTGTGACGGCCCTTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAAT... |
Task1_train_21022 | Here is a mutation in FBN1, LOC126862124 (fibrillin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765) on Chromosome 15. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Marfan syndrome | TTCTTAATACTTCCCCCTTGCTTTTCTTGTCTTCTGTGACGGCCCTTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATT... | TTCTTAATACTTCCCCCTTGCTTTTCTTGTCTTCTGTGACGGCCCTTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATT... |
Task1_train_21023 | A change on Chromosome 15 affects gene FBN1, LOC126862124 (fibrillin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TTCTTAATACTTCCCCCTTGCTTTTCTTGTCTTCTGTGACGGCCCTTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATT... | TTCTTAATACTTCCCCCTTGCTTTTCTTGTCTTCTGTGACGGCCCTTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATT... |
Task1_train_21024 | This variant affects gene FBN1, LOC126862124 (fibrillin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Marfan syndrome | ACGGCCCTTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATC... | ACGGCCCTTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATC... |
Task1_train_21025 | This variant affects the gene FBN1, LOC126862124 (fibrillin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765) 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 | ACGGCCCTTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATC... | ACGGCCCTTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATC... |
Task1_train_21026 | This sequence variant lies in FBN1, LOC126862124 (fibrillin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765) on Chromosome 15. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Marfan syndrome | ACGGCCCTTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATC... | ACGGCCCTTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATC... |
Task1_train_21027 | A mutation found in FBN1, LOC126862124 (fibrillin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Marfan syndrome | CGGCCCTTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCT... | CGGCCCTTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCT... |
Task1_train_21028 | This variant impacts the gene FBN1, LOC126862124 (fibrillin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765) on Chromosome 15. Is the change likely to result in a pathogenic outcome? | Pathogenic; Marfan syndrome | CGGCCCTTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCT... | CGGCCCTTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCT... |
Task1_train_21029 | This variant impacts the gene FBN1, LOC126862124 (fibrillin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765) on Chromosome 15. Is the change likely to result in a pathogenic outcome? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CGGCCCTTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCT... | CGGCCCTTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCT... |
Task1_train_21030 | The gene FBN1, LOC126862124 (fibrillin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765) on Chromosome 15 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Marfan syndrome | CTTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCTAACAC... | CTTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCTAACAC... |
Task1_train_21031 | A sequence alteration has been identified in FBN1, LOC126862124 (fibrillin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765) on Chromosome 15. Is it disease-inducing or harmless? | Pathogenic; Marfan syndrome | TTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCTAACACC... | TTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCTAACACC... |
Task1_train_21032 | This genomic variant is located on Chromosome 15, within the FBN1, LOC126862124 (fibrillin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Marfan syndrome | TTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCTAACACC... | TTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCTAACACC... |
Task1_train_21033 | The gene FBN1, LOC126862124 (fibrillin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCTAACACC... | TTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCTAACACC... |
Task1_train_21034 | This is a variant in FBN1, LOC126862124 (fibrillin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765), located on Chromosome 15. Is this mutation a likely cause of disease or not? | Pathogenic; Marfan syndrome | TGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCTAACACCA... | TGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCTAACACCA... |
Task1_train_21035 | A variant was discovered in gene FBN1, LOC126862124 (fibrillin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Marfan syndrome | AGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCTAACACCAATCTGGGCACTTCTC... | AGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCTAACACCAATCTGGGCACTTCTC... |
Task1_train_21036 | This sequence change occurs on Chromosome 15, altering FBN1, LOC126862124 (fibrillin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCTAACACCAATCTGGGCACTTCTC... | AGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCTAACACCAATCTGGGCACTTCTC... |
Task1_train_21037 | A change on Chromosome 15 affects gene FBN1, LOC126862124 (fibrillin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Marfan syndrome | CTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCTAACACCAATCTGGGCACTTCTCCTATAGACTTTT... | CTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCTAACACCAATCTGGGCACTTCTCCTATAGACTTTT... |
Task1_train_21038 | A change on Chromosome 15 affects gene FBN1, LOC126862124 (fibrillin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCTAACACCAATCTGGGCACTTCTCCTATAGACTTTT... | CTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCTAACACCAATCTGGGCACTTCTCCTATAGACTTTT... |
Task1_train_21039 | Gene FBN1, LOC126862124 (fibrillin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765) 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 | GCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCTAACACCAATCTGGGCACTTCTCCTATAGACTTTTAGATGATTTGCCATGCACAGTGAAGTCTCGTAGGTG... | GCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCTAACACCAATCTGGGCACTTCTCCTATAGACTTTTAGATGATTTGCCATGCACAGTGAAGTCTCGTAGGTG... |
Task1_train_21040 | This genomic variant is located on Chromosome 15, within the FBN1, LOC126862124 (fibrillin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Marfan syndrome | GCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCTAACACCAATCTGGGCACTTCTCCTATAGACTTTTAGATGATTTGCCATGCACAGTGAAGTCTCGTAGGTG... | GCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCTAACACCAATCTGGGCACTTCTCCTATAGACTTTTAGATGATTTGCCATGCACAGTGAAGTCTCGTAGGTG... |
Task1_train_21041 | The gene FBN1, LOC126862124 (fibrillin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCTAACACCAATCTGGGCACTTCTCCTATAGACTTTTAGATGATTTGCCATGCACAGTGAAGTCTCGTAGGTG... | GCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCTAACACCAATCTGGGCACTTCTCCTATAGACTTTTAGATGATTTGCCATGCACAGTGAAGTCTCGTAGGTG... |
Task1_train_21042 | Given this variant in gene FBN1, LOC126862124 (fibrillin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765) on Chromosome 15, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Marfan syndrome | GCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCTAACACCAATCTGGGCACTTCTCCTATAGACTTTTAGATGATTTGCCATGCACAGTGAAGTCTCGTAGGTG... | GCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCTAACACCAATCTGGGCACTTCTCCTATAGACTTTTAGATGATTTGCCATGCACAGTGAAGTCTCGTAGGTG... |
Task1_train_21043 | This variant impacts the gene FBN1 (fibrillin 1) on Chromosome 15. Is the change likely to result in a pathogenic outcome? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GTAGGGATTAACAGGTTGCATCCCCCTCCGTAGGGATAAATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAG... | GTAGGGATTAACAGGTTGCATCCCCCTCCGTAGGGATAAATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAG... |
Task1_train_21044 | 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 | GTAGGGATTAACAGGTTGCATCCCCCTCCGTAGGGATAAATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAG... | GTAGGGATTAACAGGTTGCATCCCCCTCCGTAGGGATAAATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAG... |
Task1_train_21045 | 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 | GTAGGGATTAACAGGTTGCATCCCCCTCCGTAGGGATAAATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAG... | GTAGGGATTAACAGGTTGCATCCCCCTCCGTAGGGATAAATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAG... |
Task1_train_21046 | 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 | GGATAAATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTC... | GGATAAATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTC... |
Task1_train_21047 | 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/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections | GGATAAATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTC... | GGATAAATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTC... |
Task1_train_21048 | Gene FBN1 (fibrillin 1), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Marfan syndrome | GGATAAATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTC... | GGATAAATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTC... |
Task1_train_21049 | A variant was discovered in gene FBN1 (fibrillin 1), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GGATAAATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTC... | GGATAAATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTC... |
Task1_train_21050 | Here is a genetic alteration in FBN1 (fibrillin 1) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Marfan syndrome | ATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCA... | ATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCA... |
Task1_train_21051 | 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 | ATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCA... | ATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCA... |
Task1_train_21052 | 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 | ATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCA... | ATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCA... |
Task1_train_21053 | 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 | ATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCA... | ATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCA... |
Task1_train_21054 | 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 | ATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCA... | ATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCA... |
Task1_train_21055 | 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; Ectopia lentis 1, isolated, autosomal dominant | ATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCT... | ATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCT... |
Task1_train_21056 | The gene FBN1 (fibrillin 1), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Geleophysic dysplasia 2 | ATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCT... | ATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCT... |
Task1_train_21057 | 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; Stiff skin syndrome | ATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCT... | ATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCT... |
Task1_train_21058 | 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; MASS syndrome | ATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCT... | ATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCT... |
Task1_train_21059 | With a mutation on Chromosome 15 in gene FBN1 (fibrillin 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Marfan syndrome | ATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCT... | ATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCT... |
Task1_train_21060 | An alteration has been detected in FBN1 (fibrillin 1) on Chromosome 15. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Weill-Marchesani syndrome 2, dominant | ATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCT... | ATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCT... |
Task1_train_21061 | This mutation occurs in FBN1 (fibrillin 1) on Chromosome 15. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Acromicric dysplasia | ATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCT... | ATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCT... |
Task1_train_21062 | 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; Progeroid and marfanoid aspect-lipodystrophy syndrome | ATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCT... | ATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCT... |
Task1_train_21063 | 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 | ATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCT... | ATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCT... |
Task1_train_21064 | 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 | ATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCT... | ATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCT... |
Task1_train_21065 | 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; not provided | TGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCAT... | TGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCAT... |
Task1_train_21066 | 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 | GGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTAT... | GGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTAT... |
Task1_train_21067 | 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 | GGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTAT... | GGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTAT... |
Task1_train_21068 | 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 | GGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTAT... | GGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTAT... |
Task1_train_21069 | 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 | GGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTAT... | GGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTAT... |
Task1_train_21070 | 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 | AGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAA... | AGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAA... |
Task1_train_21071 | 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 | AGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAA... | AGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAA... |
Task1_train_21072 | 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 | GGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAAATTTA... | GGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAAATTTA... |
Task1_train_21073 | 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 | GGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAAATTTA... | GGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAAATTTA... |
Task1_train_21074 | 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 | GCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAAATTTAC... | GCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAAATTTAC... |
Task1_train_21075 | 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 | GCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAAATTTAC... | GCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAAATTTAC... |
Task1_train_21076 | 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 | CTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAAATTTACA... | CTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAAATTTACA... |
Task1_train_21077 | 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 | CTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAAATTTACA... | CTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAAATTTACA... |
Task1_train_21078 | 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 | GTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAAATTTACATGTGGC... | GTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAAATTTACATGTGGC... |
Task1_train_21079 | 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 | CTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAAATTTACATGTGGCTGATTCAGAATCCTGAATGA... | CTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAAATTTACATGTGGCTGATTCAGAATCCTGAATGA... |
Task1_train_21080 | A variant was discovered on Chromosome 15, affecting FBN1 (fibrillin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Marfan syndrome | CTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAAATTTACATGTGGCTGATTCAGAATCCTGAATGA... | CTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAAATTTACATGTGGCTGATTCAGAATCCTGAATGA... |
Task1_train_21081 | 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 | CAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAAATTTACATGTGGCTGATTCAGAATCCTGAATGATAATTTACCCTGAATGAT... | CAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAAATTTACATGTGGCTGATTCAGAATCCTGAATGATAATTTACCCTGAATGAT... |
Task1_train_21082 | 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 | CAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAAATTTACATGTGGCTGATTCAGAATCCTGAATGATAATTTACCCTGAATGAT... | CAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAAATTTACATGTGGCTGATTCAGAATCCTGAATGATAATTTACCCTGAATGAT... |
Task1_train_21083 | The gene FBN1 (fibrillin 1) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAAATTTACATGTGGCTGATTCAGAATCCTGAATGATAATTTACCCTGAATGATATAAAATGAATAAGCCGAAGGA... | GTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAAATTTACATGTGGCTGATTCAGAATCCTGAATGATAATTTACCCTGAATGATATAAAATGAATAAGCCGAAGGA... |
Task1_train_21084 | 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 | GTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAAATTTACATGTGGCTGATTCAGAATCCTGAATGATAATTTACCCTGAATGATATAAAATGAATAAGCCGAAGGA... | GTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAAATTTACATGTGGCTGATTCAGAATCCTGAATGATAATTTACCCTGAATGATATAAAATGAATAAGCCGAAGGA... |
Task1_train_21085 | 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 | ATGAAAAAGATTTGAAGAGGATCAAATGTTTCTTTGACTTCAAATCTATGTTCATGTGATTGACTCAAAGGCTGCTGTTCTTAACGTAAAGCTGGTGTCACTTCATGCAACTGTAGTGCACAGCTCTGTTACCATGGTCTTAGTATCTGTGCAAATTCAACTACGAAAAACAAGCCTTTCAATATAAAGAGTAAGATTTTCCTTCTTTAAACTGAGTTCAAGCATGAATCAGTAAACAGTAGCATAAAATTTTTGCTAGACTGTTAAATTCTCAAATGAAACAACAAAACAATGGACAATAGATATAGACTAGAAGCAAT... | ATGAAAAAGATTTGAAGAGGATCAAATGTTTCTTTGACTTCAAATCTATGTTCATGTGATTGACTCAAAGGCTGCTGTTCTTAACGTAAAGCTGGTGTCACTTCATGCAACTGTAGTGCACAGCTCTGTTACCATGGTCTTAGTATCTGTGCAAATTCAACTACGAAAAACAAGCCTTTCAATATAAAGAGTAAGATTTTCCTTCTTTAAACTGAGTTCAAGCATGAATCAGTAAACAGTAGCATAAAATTTTTGCTAGACTGTTAAATTCTCAAATGAAACAACAAAACAATGGACAATAGATATAGACTAGAAGCAAT... |
Task1_train_21086 | 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 | AAAGATTTGAAGAGGATCAAATGTTTCTTTGACTTCAAATCTATGTTCATGTGATTGACTCAAAGGCTGCTGTTCTTAACGTAAAGCTGGTGTCACTTCATGCAACTGTAGTGCACAGCTCTGTTACCATGGTCTTAGTATCTGTGCAAATTCAACTACGAAAAACAAGCCTTTCAATATAAAGAGTAAGATTTTCCTTCTTTAAACTGAGTTCAAGCATGAATCAGTAAACAGTAGCATAAAATTTTTGCTAGACTGTTAAATTCTCAAATGAAACAACAAAACAATGGACAATAGATATAGACTAGAAGCAATGGCTT... | AAAGATTTGAAGAGGATCAAATGTTTCTTTGACTTCAAATCTATGTTCATGTGATTGACTCAAAGGCTGCTGTTCTTAACGTAAAGCTGGTGTCACTTCATGCAACTGTAGTGCACAGCTCTGTTACCATGGTCTTAGTATCTGTGCAAATTCAACTACGAAAAACAAGCCTTTCAATATAAAGAGTAAGATTTTCCTTCTTTAAACTGAGTTCAAGCATGAATCAGTAAACAGTAGCATAAAATTTTTGCTAGACTGTTAAATTCTCAAATGAAACAACAAAACAATGGACAATAGATATAGACTAGAAGCAATGGCTT... |
Task1_train_21087 | Consider this mutation in FBN1 (fibrillin 1) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; Marfan syndrome | AAAGATTTGAAGAGGATCAAATGTTTCTTTGACTTCAAATCTATGTTCATGTGATTGACTCAAAGGCTGCTGTTCTTAACGTAAAGCTGGTGTCACTTCATGCAACTGTAGTGCACAGCTCTGTTACCATGGTCTTAGTATCTGTGCAAATTCAACTACGAAAAACAAGCCTTTCAATATAAAGAGTAAGATTTTCCTTCTTTAAACTGAGTTCAAGCATGAATCAGTAAACAGTAGCATAAAATTTTTGCTAGACTGTTAAATTCTCAAATGAAACAACAAAACAATGGACAATAGATATAGACTAGAAGCAATGGCTT... | AAAGATTTGAAGAGGATCAAATGTTTCTTTGACTTCAAATCTATGTTCATGTGATTGACTCAAAGGCTGCTGTTCTTAACGTAAAGCTGGTGTCACTTCATGCAACTGTAGTGCACAGCTCTGTTACCATGGTCTTAGTATCTGTGCAAATTCAACTACGAAAAACAAGCCTTTCAATATAAAGAGTAAGATTTTCCTTCTTTAAACTGAGTTCAAGCATGAATCAGTAAACAGTAGCATAAAATTTTTGCTAGACTGTTAAATTCTCAAATGAAACAACAAAACAATGGACAATAGATATAGACTAGAAGCAATGGCTT... |
Task1_train_21088 | This variant affects gene FBN1 (fibrillin 1) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Marfan syndrome | AAGATTTGAAGAGGATCAAATGTTTCTTTGACTTCAAATCTATGTTCATGTGATTGACTCAAAGGCTGCTGTTCTTAACGTAAAGCTGGTGTCACTTCATGCAACTGTAGTGCACAGCTCTGTTACCATGGTCTTAGTATCTGTGCAAATTCAACTACGAAAAACAAGCCTTTCAATATAAAGAGTAAGATTTTCCTTCTTTAAACTGAGTTCAAGCATGAATCAGTAAACAGTAGCATAAAATTTTTGCTAGACTGTTAAATTCTCAAATGAAACAACAAAACAATGGACAATAGATATAGACTAGAAGCAATGGCTTT... | AAGATTTGAAGAGGATCAAATGTTTCTTTGACTTCAAATCTATGTTCATGTGATTGACTCAAAGGCTGCTGTTCTTAACGTAAAGCTGGTGTCACTTCATGCAACTGTAGTGCACAGCTCTGTTACCATGGTCTTAGTATCTGTGCAAATTCAACTACGAAAAACAAGCCTTTCAATATAAAGAGTAAGATTTTCCTTCTTTAAACTGAGTTCAAGCATGAATCAGTAAACAGTAGCATAAAATTTTTGCTAGACTGTTAAATTCTCAAATGAAACAACAAAACAATGGACAATAGATATAGACTAGAAGCAATGGCTTT... |
Task1_train_21089 | 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 | AAGATTTGAAGAGGATCAAATGTTTCTTTGACTTCAAATCTATGTTCATGTGATTGACTCAAAGGCTGCTGTTCTTAACGTAAAGCTGGTGTCACTTCATGCAACTGTAGTGCACAGCTCTGTTACCATGGTCTTAGTATCTGTGCAAATTCAACTACGAAAAACAAGCCTTTCAATATAAAGAGTAAGATTTTCCTTCTTTAAACTGAGTTCAAGCATGAATCAGTAAACAGTAGCATAAAATTTTTGCTAGACTGTTAAATTCTCAAATGAAACAACAAAACAATGGACAATAGATATAGACTAGAAGCAATGGCTTT... | AAGATTTGAAGAGGATCAAATGTTTCTTTGACTTCAAATCTATGTTCATGTGATTGACTCAAAGGCTGCTGTTCTTAACGTAAAGCTGGTGTCACTTCATGCAACTGTAGTGCACAGCTCTGTTACCATGGTCTTAGTATCTGTGCAAATTCAACTACGAAAAACAAGCCTTTCAATATAAAGAGTAAGATTTTCCTTCTTTAAACTGAGTTCAAGCATGAATCAGTAAACAGTAGCATAAAATTTTTGCTAGACTGTTAAATTCTCAAATGAAACAACAAAACAATGGACAATAGATATAGACTAGAAGCAATGGCTTT... |
Task1_train_21090 | 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 | TCTATGTTCATGTGATTGACTCAAAGGCTGCTGTTCTTAACGTAAAGCTGGTGTCACTTCATGCAACTGTAGTGCACAGCTCTGTTACCATGGTCTTAGTATCTGTGCAAATTCAACTACGAAAAACAAGCCTTTCAATATAAAGAGTAAGATTTTCCTTCTTTAAACTGAGTTCAAGCATGAATCAGTAAACAGTAGCATAAAATTTTTGCTAGACTGTTAAATTCTCAAATGAAACAACAAAACAATGGACAATAGATATAGACTAGAAGCAATGGCTTTCACTAAAATGGCCTCTAGACACTGTGTCTATGTTTCAT... | TCTATGTTCATGTGATTGACTCAAAGGCTGCTGTTCTTAACGTAAAGCTGGTGTCACTTCATGCAACTGTAGTGCACAGCTCTGTTACCATGGTCTTAGTATCTGTGCAAATTCAACTACGAAAAACAAGCCTTTCAATATAAAGAGTAAGATTTTCCTTCTTTAAACTGAGTTCAAGCATGAATCAGTAAACAGTAGCATAAAATTTTTGCTAGACTGTTAAATTCTCAAATGAAACAACAAAACAATGGACAATAGATATAGACTAGAAGCAATGGCTTTCACTAAAATGGCCTCTAGACACTGTGTCTATGTTTCAT... |
Task1_train_21091 | 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 | TCTATGTTCATGTGATTGACTCAAAGGCTGCTGTTCTTAACGTAAAGCTGGTGTCACTTCATGCAACTGTAGTGCACAGCTCTGTTACCATGGTCTTAGTATCTGTGCAAATTCAACTACGAAAAACAAGCCTTTCAATATAAAGAGTAAGATTTTCCTTCTTTAAACTGAGTTCAAGCATGAATCAGTAAACAGTAGCATAAAATTTTTGCTAGACTGTTAAATTCTCAAATGAAACAACAAAACAATGGACAATAGATATAGACTAGAAGCAATGGCTTTCACTAAAATGGCCTCTAGACACTGTGTCTATGTTTCAT... | TCTATGTTCATGTGATTGACTCAAAGGCTGCTGTTCTTAACGTAAAGCTGGTGTCACTTCATGCAACTGTAGTGCACAGCTCTGTTACCATGGTCTTAGTATCTGTGCAAATTCAACTACGAAAAACAAGCCTTTCAATATAAAGAGTAAGATTTTCCTTCTTTAAACTGAGTTCAAGCATGAATCAGTAAACAGTAGCATAAAATTTTTGCTAGACTGTTAAATTCTCAAATGAAACAACAAAACAATGGACAATAGATATAGACTAGAAGCAATGGCTTTCACTAAAATGGCCTCTAGACACTGTGTCTATGTTTCAT... |
Task1_train_21092 | A variant was discovered on Chromosome 15, affecting FBN1 (fibrillin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Marfan syndrome | AGTGCACAGCTCTGTTACCATGGTCTTAGTATCTGTGCAAATTCAACTACGAAAAACAAGCCTTTCAATATAAAGAGTAAGATTTTCCTTCTTTAAACTGAGTTCAAGCATGAATCAGTAAACAGTAGCATAAAATTTTTGCTAGACTGTTAAATTCTCAAATGAAACAACAAAACAATGGACAATAGATATAGACTAGAAGCAATGGCTTTCACTAAAATGGCCTCTAGACACTGTGTCTATGTTTCATTTGACAATAGCTTTTATTTATTGACCAGCACTGCGCCAACAGCATTGTATACATTATATGTCATTTACCT... | AGTGCACAGCTCTGTTACCATGGTCTTAGTATCTGTGCAAATTCAACTACGAAAAACAAGCCTTTCAATATAAAGAGTAAGATTTTCCTTCTTTAAACTGAGTTCAAGCATGAATCAGTAAACAGTAGCATAAAATTTTTGCTAGACTGTTAAATTCTCAAATGAAACAACAAAACAATGGACAATAGATATAGACTAGAAGCAATGGCTTTCACTAAAATGGCCTCTAGACACTGTGTCTATGTTTCATTTGACAATAGCTTTTATTTATTGACCAGCACTGCGCCAACAGCATTGTATACATTATATGTCATTTACCT... |
Task1_train_21093 | 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 | AGTGCACAGCTCTGTTACCATGGTCTTAGTATCTGTGCAAATTCAACTACGAAAAACAAGCCTTTCAATATAAAGAGTAAGATTTTCCTTCTTTAAACTGAGTTCAAGCATGAATCAGTAAACAGTAGCATAAAATTTTTGCTAGACTGTTAAATTCTCAAATGAAACAACAAAACAATGGACAATAGATATAGACTAGAAGCAATGGCTTTCACTAAAATGGCCTCTAGACACTGTGTCTATGTTTCATTTGACAATAGCTTTTATTTATTGACCAGCACTGCGCCAACAGCATTGTATACATTATATGTCATTTACCT... | AGTGCACAGCTCTGTTACCATGGTCTTAGTATCTGTGCAAATTCAACTACGAAAAACAAGCCTTTCAATATAAAGAGTAAGATTTTCCTTCTTTAAACTGAGTTCAAGCATGAATCAGTAAACAGTAGCATAAAATTTTTGCTAGACTGTTAAATTCTCAAATGAAACAACAAAACAATGGACAATAGATATAGACTAGAAGCAATGGCTTTCACTAAAATGGCCTCTAGACACTGTGTCTATGTTTCATTTGACAATAGCTTTTATTTATTGACCAGCACTGCGCCAACAGCATTGTATACATTATATGTCATTTACCT... |
Task1_train_21094 | 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 | AGTGCACAGCTCTGTTACCATGGTCTTAGTATCTGTGCAAATTCAACTACGAAAAACAAGCCTTTCAATATAAAGAGTAAGATTTTCCTTCTTTAAACTGAGTTCAAGCATGAATCAGTAAACAGTAGCATAAAATTTTTGCTAGACTGTTAAATTCTCAAATGAAACAACAAAACAATGGACAATAGATATAGACTAGAAGCAATGGCTTTCACTAAAATGGCCTCTAGACACTGTGTCTATGTTTCATTTGACAATAGCTTTTATTTATTGACCAGCACTGCGCCAACAGCATTGTATACATTATATGTCATTTACCT... | AGTGCACAGCTCTGTTACCATGGTCTTAGTATCTGTGCAAATTCAACTACGAAAAACAAGCCTTTCAATATAAAGAGTAAGATTTTCCTTCTTTAAACTGAGTTCAAGCATGAATCAGTAAACAGTAGCATAAAATTTTTGCTAGACTGTTAAATTCTCAAATGAAACAACAAAACAATGGACAATAGATATAGACTAGAAGCAATGGCTTTCACTAAAATGGCCTCTAGACACTGTGTCTATGTTTCATTTGACAATAGCTTTTATTTATTGACCAGCACTGCGCCAACAGCATTGTATACATTATATGTCATTTACCT... |
Task1_train_21095 | 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 | AGTGCACAGCTCTGTTACCATGGTCTTAGTATCTGTGCAAATTCAACTACGAAAAACAAGCCTTTCAATATAAAGAGTAAGATTTTCCTTCTTTAAACTGAGTTCAAGCATGAATCAGTAAACAGTAGCATAAAATTTTTGCTAGACTGTTAAATTCTCAAATGAAACAACAAAACAATGGACAATAGATATAGACTAGAAGCAATGGCTTTCACTAAAATGGCCTCTAGACACTGTGTCTATGTTTCATTTGACAATAGCTTTTATTTATTGACCAGCACTGCGCCAACAGCATTGTATACATTATATGTCATTTACCT... | AGTGCACAGCTCTGTTACCATGGTCTTAGTATCTGTGCAAATTCAACTACGAAAAACAAGCCTTTCAATATAAAGAGTAAGATTTTCCTTCTTTAAACTGAGTTCAAGCATGAATCAGTAAACAGTAGCATAAAATTTTTGCTAGACTGTTAAATTCTCAAATGAAACAACAAAACAATGGACAATAGATATAGACTAGAAGCAATGGCTTTCACTAAAATGGCCTCTAGACACTGTGTCTATGTTTCATTTGACAATAGCTTTTATTTATTGACCAGCACTGCGCCAACAGCATTGTATACATTATATGTCATTTACCT... |
Task1_train_21096 | 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 | TGACATCTGTAAAACATATATACTATTAATATATGTAGCTATTTGATATCATTGAGTACTTTCCCCTCGAGACATAATAACTATGACAAATACATTAGAAAAGGTAAAATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTG... | TGACATCTGTAAAACATATATACTATTAATATATGTAGCTATTTGATATCATTGAGTACTTTCCCCTCGAGACATAATAACTATGACAAATACATTAGAAAAGGTAAAATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTG... |
Task1_train_21097 | 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 | TGACATCTGTAAAACATATATACTATTAATATATGTAGCTATTTGATATCATTGAGTACTTTCCCCTCGAGACATAATAACTATGACAAATACATTAGAAAAGGTAAAATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTG... | TGACATCTGTAAAACATATATACTATTAATATATGTAGCTATTTGATATCATTGAGTACTTTCCCCTCGAGACATAATAACTATGACAAATACATTAGAAAAGGTAAAATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTG... |
Task1_train_21098 | Mutation context: Chromosome 15, Gene FBN1 (fibrillin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Marfan syndrome | TATTTGATATCATTGAGTACTTTCCCCTCGAGACATAATAACTATGACAAATACATTAGAAAAGGTAAAATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACA... | TATTTGATATCATTGAGTACTTTCCCCTCGAGACATAATAACTATGACAAATACATTAGAAAAGGTAAAATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACA... |
Task1_train_21099 | 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 | TATTTGATATCATTGAGTACTTTCCCCTCGAGACATAATAACTATGACAAATACATTAGAAAAGGTAAAATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACA... | TATTTGATATCATTGAGTACTTTCCCCTCGAGACATAATAACTATGACAAATACATTAGAAAAGGTAAAATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACA... |
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