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 |
|---|---|---|---|---|
Task1_train_21300 | 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 | CTCAGGTTAAATCAAATCATTAAAGAAAACCACACCGGTCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAA... | CTCAGGTTAAATCAAATCATTAAAGAAAACCACACCGGTCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAA... |
Task1_train_21301 | Gene FBN1 (fibrillin 1), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TCAGGTTAAATCAAATCATTAAAGAAAACCACACCGGTCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAA... | TCAGGTTAAATCAAATCATTAAAGAAAACCACACCGGTCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAA... |
Task1_train_21302 | 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 | TCAGGTTAAATCAAATCATTAAAGAAAACCACACCGGTCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAA... | TCAGGTTAAATCAAATCATTAAAGAAAACCACACCGGTCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAA... |
Task1_train_21303 | The following genetic variant occurs in FBN1 (fibrillin 1) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Marfan syndrome | CAGGTTAAATCAAATCATTAAAGAAAACCACACCGGTCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAA... | CAGGTTAAATCAAATCATTAAAGAAAACCACACCGGTCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAA... |
Task1_train_21304 | Gene FBN1 (fibrillin 1), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CAGGTTAAATCAAATCATTAAAGAAAACCACACCGGTCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAA... | CAGGTTAAATCAAATCATTAAAGAAAACCACACCGGTCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAA... |
Task1_train_21305 | 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 | CGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAG... | CGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAG... |
Task1_train_21306 | 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 | CGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAG... | CGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAG... |
Task1_train_21307 | Chromosome 15 houses a mutation in gene FBN1 (fibrillin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Marfan syndrome | GGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGA... | GGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGA... |
Task1_train_21308 | Chromosome 15 houses a mutation in gene FBN1 (fibrillin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGA... | GGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGA... |
Task1_train_21309 | 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 | GGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGA... | GGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGA... |
Task1_train_21310 | 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 | GGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGA... | GGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGA... |
Task1_train_21311 | 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 | CGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACC... | CGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACC... |
Task1_train_21312 | 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 | CGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACC... | CGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACC... |
Task1_train_21313 | 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 | CGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACC... | CGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACC... |
Task1_train_21314 | This sequence variant lies in FBN1 (fibrillin 1) on Chromosome 15. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | CCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGG... | CCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGG... |
Task1_train_21315 | This alteration occurs within gene FBN1 (fibrillin 1) located on Chromosome 15. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | CCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGG... | CCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGG... |
Task1_train_21316 | 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 | CTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAA... | CTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAA... |
Task1_train_21317 | This gene mutation involves FBN1 (fibrillin 1) on Chromosome 15. Is it associated with any clinical condition, or is it benign? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAA... | GGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAA... |
Task1_train_21318 | 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 | GGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAA... | GGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAA... |
Task1_train_21319 | 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 | GGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAA... | GGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAA... |
Task1_train_21320 | 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 | GGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAA... | GGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAA... |
Task1_train_21321 | A genetic alteration is present in FBN1 (fibrillin 1) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections | GGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAA... | GGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAA... |
Task1_train_21322 | 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 | GGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAA... | GGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAA... |
Task1_train_21323 | 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; Weill-Marchesani syndrome 2, dominant | GGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAA... | GGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAA... |
Task1_train_21324 | 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 | GGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAA... | GGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAA... |
Task1_train_21325 | An alteration has been detected in FBN1 (fibrillin 1) on Chromosome 15. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Ectopia lentis 1, isolated, autosomal dominant | GGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAA... | GGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAA... |
Task1_train_21326 | 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 | GGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAA... | GGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAA... |
Task1_train_21327 | This mutation occurs in FBN1 (fibrillin 1) on Chromosome 15. Does this change lead to a known medical condition, or is it benign? | Pathogenic; MASS syndrome | GGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAA... | GGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAA... |
Task1_train_21328 | 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; Progeroid and marfanoid aspect-lipodystrophy syndrome | GGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAA... | GGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAA... |
Task1_train_21329 | The gene FBN1 (fibrillin 1), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Acromicric dysplasia | GGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAA... | GGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAA... |
Task1_train_21330 | 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; Familial thoracic aortic aneurysm and aortic dissection | GCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAAAATTTACAAAT... | GCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAAAATTTACAAAT... |
Task1_train_21331 | 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 | GCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAAAATTTACAAAT... | GCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAAAATTTACAAAT... |
Task1_train_21332 | 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; not provided | TCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAAAATTTACAAATGGCCTTTTGGAAAGCTA... | TCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAAAATTTACAAATGGCCTTTTGGAAAGCTA... |
Task1_train_21333 | 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 | CAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAAAATTTACAAATGGCCTTTTGGAAAGCTAG... | CAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAAAATTTACAAATGGCCTTTTGGAAAGCTAG... |
Task1_train_21334 | 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 | CAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAAAATTTACAAATGGCCTTTTGGAAAGCTAG... | CAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAGAAAAAGAAAACCACACCAAAATCAATACGTGGGATGTAAACAAAATTTACAAATGGCCTTTTGGAAAGCTAG... |
Task1_train_21335 | This variant impacts the gene FBN1 (fibrillin 1) on Chromosome 15. Is the change likely to result in a pathogenic outcome? | Pathogenic; Marfan syndrome | AACACAAAGGGTTTTTAATAAGAACGGAGATGTAAGGTAGATCCAAAGGGAGGTAACCTTGGTCAAAGTTAGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGT... | AACACAAAGGGTTTTTAATAAGAACGGAGATGTAAGGTAGATCCAAAGGGAGGTAACCTTGGTCAAAGTTAGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGT... |
Task1_train_21336 | 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 | AACACAAAGGGTTTTTAATAAGAACGGAGATGTAAGGTAGATCCAAAGGGAGGTAACCTTGGTCAAAGTTAGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGT... | AACACAAAGGGTTTTTAATAAGAACGGAGATGTAAGGTAGATCCAAAGGGAGGTAACCTTGGTCAAAGTTAGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGT... |
Task1_train_21337 | 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 | AACACAAAGGGTTTTTAATAAGAACGGAGATGTAAGGTAGATCCAAAGGGAGGTAACCTTGGTCAAAGTTAGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGT... | AACACAAAGGGTTTTTAATAAGAACGGAGATGTAAGGTAGATCCAAAGGGAGGTAACCTTGGTCAAAGTTAGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGT... |
Task1_train_21338 | Gene FBN1 (fibrillin 1), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Marfan syndrome | TAGATCCAAAGGGAGGTAACCTTGGTCAAAGTTAGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATT... | TAGATCCAAAGGGAGGTAACCTTGGTCAAAGTTAGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATT... |
Task1_train_21339 | This variant affects the gene FBN1 (fibrillin 1) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Marfan syndrome | AGATCCAAAGGGAGGTAACCTTGGTCAAAGTTAGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTG... | AGATCCAAAGGGAGGTAACCTTGGTCAAAGTTAGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTG... |
Task1_train_21340 | A sequence alteration has been identified in FBN1 (fibrillin 1) on Chromosome 15. Is it disease-inducing or harmless? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AGATCCAAAGGGAGGTAACCTTGGTCAAAGTTAGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTG... | AGATCCAAAGGGAGGTAACCTTGGTCAAAGTTAGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTG... |
Task1_train_21341 | 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 | AGATCCAAAGGGAGGTAACCTTGGTCAAAGTTAGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTG... | AGATCCAAAGGGAGGTAACCTTGGTCAAAGTTAGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTG... |
Task1_train_21342 | 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 | GATCCAAAGGGAGGTAACCTTGGTCAAAGTTAGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGA... | GATCCAAAGGGAGGTAACCTTGGTCAAAGTTAGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGA... |
Task1_train_21343 | 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 | GATCCAAAGGGAGGTAACCTTGGTCAAAGTTAGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGA... | GATCCAAAGGGAGGTAACCTTGGTCAAAGTTAGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGA... |
Task1_train_21344 | This gene mutation involves FBN1 (fibrillin 1) on Chromosome 15. Is it associated with any clinical condition, or is it benign? | Pathogenic; Marfan syndrome | AAGGGAGGTAACCTTGGTCAAAGTTAGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAA... | AAGGGAGGTAACCTTGGTCAAAGTTAGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAA... |
Task1_train_21345 | 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 | AAGGGAGGTAACCTTGGTCAAAGTTAGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAA... | AAGGGAGGTAACCTTGGTCAAAGTTAGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAA... |
Task1_train_21346 | 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 | AAGGGAGGTAACCTTGGTCAAAGTTAGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAA... | AAGGGAGGTAACCTTGGTCAAAGTTAGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAA... |
Task1_train_21347 | This sequence variant lies in FBN1 (fibrillin 1) on Chromosome 15. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AAGGGAGGTAACCTTGGTCAAAGTTAGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAA... | AAGGGAGGTAACCTTGGTCAAAGTTAGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAA... |
Task1_train_21348 | Given this context: Chromosome 15, gene FBN1 (fibrillin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Marfan syndrome | AGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCT... | AGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCT... |
Task1_train_21349 | 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 | AGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCT... | AGTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCT... |
Task1_train_21350 | 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 | GTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCTC... | GTGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCTC... |
Task1_train_21351 | 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 | TGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCTCT... | TGGCTTCAACTTTCAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCTCT... |
Task1_train_21352 | 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; FBN1-related disorder | CAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCTCTCTCTCTCAGATCC... | CAGAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCTCTCTCTCTCAGATCC... |
Task1_train_21353 | 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 | GAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCTCTCTCTCTCAGATCCTT... | GAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCTCTCTCTCTCAGATCCTT... |
Task1_train_21354 | 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 | GAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCTCTCTCTCTCAGATCCTT... | GAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCTCTCTCTCTCAGATCCTT... |
Task1_train_21355 | 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 | GAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCTCTCTCTCTCAGATCCTT... | GAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCTCTCTCTCTCAGATCCTT... |
Task1_train_21356 | This is a variant in FBN1 (fibrillin 1), located on Chromosome 15. Is this mutation a likely cause of disease or not? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCTCTCTCTCTCAGATCCTT... | GAGAGTGAACAGAGAAGCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCTCTCTCTCTCAGATCCTT... |
Task1_train_21357 | This gene mutation involves FBN1 (fibrillin 1) on Chromosome 15. Is it associated with any clinical condition, or is it benign? | Pathogenic; Marfan syndrome | GCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCTCTCTCTCTCAGATCCTTAAGCCAGAATGCTAAA... | GCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCTCTCTCTCTCAGATCCTTAAGCCAGAATGCTAAA... |
Task1_train_21358 | 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 | GCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCTCTCTCTCTCAGATCCTTAAGCCAGAATGCTAAA... | GCCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCTCTCTCTCTCAGATCCTTAAGCCAGAATGCTAAA... |
Task1_train_21359 | 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/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections | CCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCTCTCTCTCTCAGATCCTTAAGCCAGAATGCTAAAG... | CCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCTCTCTCTCTCAGATCCTTAAGCCAGAATGCTAAAG... |
Task1_train_21360 | A variant was discovered on Chromosome 15, affecting FBN1 (fibrillin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCTCTCTCTCTCAGATCCTTAAGCCAGAATGCTAAAG... | CCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCTCTCTCTCTCAGATCCTTAAGCCAGAATGCTAAAG... |
Task1_train_21361 | A variant has been detected on Chromosome 15 in FBN1 (fibrillin 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Marfan syndrome | CCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCTCTCTCTCTCAGATCCTTAAGCCAGAATGCTAAAG... | CCATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCTCTCTCTCTCAGATCCTTAAGCCAGAATGCTAAAG... |
Task1_train_21362 | 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; not provided | CATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCTCTCTCTCTCAGATCCTTAAGCCAGAATGCTAAAGT... | CATGTTGTTGATCAGATGAGTTAACTGTGGAGACTGAATTAGCATTGATGATTCAGCTTTGAACAGTCACATCTTTGTGGGCTCAGAACTAAGTGCTCAGGGCTAGGAGAAAATCTTACCCTATGGCATAAAGACAAAAATTATAAAAAGGAAGAAATCCAGTATACATGGGATTAATTTCTTTTTTCATCCTTTAGTCTTATTACAGTGTGTGTACTCTATGCTCTATAAGCTAGAAAAAAATAAGACATTGATAATAATACAGAGCTGTGGAGCTCTCTCTCTCTCTCTCTCAGATCCTTAAGCCAGAATGCTAAAGT... |
Task1_train_21363 | 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 | TTACCAAACTAAAAAAATGGTTCTTGGTTGTTTATTTATTCTGCTTAATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGT... | TTACCAAACTAAAAAAATGGTTCTTGGTTGTTTATTTATTCTGCTTAATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGT... |
Task1_train_21364 | The following genetic variant occurs in FBN1 (fibrillin 1) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Marfan syndrome | TTACCAAACTAAAAAAATGGTTCTTGGTTGTTTATTTATTCTGCTTAATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGT... | TTACCAAACTAAAAAAATGGTTCTTGGTTGTTTATTTATTCTGCTTAATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGT... |
Task1_train_21365 | 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 | TACCAAACTAAAAAAATGGTTCTTGGTTGTTTATTTATTCTGCTTAATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTT... | TACCAAACTAAAAAAATGGTTCTTGGTTGTTTATTTATTCTGCTTAATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTT... |
Task1_train_21366 | 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 | TACCAAACTAAAAAAATGGTTCTTGGTTGTTTATTTATTCTGCTTAATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTT... | TACCAAACTAAAAAAATGGTTCTTGGTTGTTTATTTATTCTGCTTAATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTT... |
Task1_train_21367 | 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; Acromicric dysplasia | TACCAAACTAAAAAAATGGTTCTTGGTTGTTTATTTATTCTGCTTAATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTT... | TACCAAACTAAAAAAATGGTTCTTGGTTGTTTATTTATTCTGCTTAATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTT... |
Task1_train_21368 | The following genetic variant occurs in FBN1 (fibrillin 1) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TACCAAACTAAAAAAATGGTTCTTGGTTGTTTATTTATTCTGCTTAATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTT... | TACCAAACTAAAAAAATGGTTCTTGGTTGTTTATTTATTCTGCTTAATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTT... |
Task1_train_21369 | 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 | TACCAAACTAAAAAAATGGTTCTTGGTTGTTTATTTATTCTGCTTAATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTT... | TACCAAACTAAAAAAATGGTTCTTGGTTGTTTATTTATTCTGCTTAATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTT... |
Task1_train_21370 | This gene mutation involves FBN1 (fibrillin 1) on Chromosome 15. Is it associated with any clinical condition, or is it benign? | Pathogenic; Marfan syndrome | TACCAAACTAAAAAAATGGTTCTTGGTTGTTTATTTATTCTGCTTAATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTT... | TACCAAACTAAAAAAATGGTTCTTGGTTGTTTATTTATTCTGCTTAATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTT... |
Task1_train_21371 | 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; Ectopia lentis 1, isolated, autosomal dominant | ACCAAACTAAAAAAATGGTTCTTGGTTGTTTATTTATTCTGCTTAATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTT... | ACCAAACTAAAAAAATGGTTCTTGGTTGTTTATTTATTCTGCTTAATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTT... |
Task1_train_21372 | Consider this mutation in FBN1 (fibrillin 1) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; Marfan syndrome | CTGCTTAATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGA... | CTGCTTAATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGA... |
Task1_train_21373 | 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 | CTGCTTAATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGA... | CTGCTTAATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGA... |
Task1_train_21374 | 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 | CTGCTTAATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGA... | CTGCTTAATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGA... |
Task1_train_21375 | This variant affects gene FBN1 (fibrillin 1) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CTGCTTAATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGA... | CTGCTTAATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGA... |
Task1_train_21376 | 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 | AATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGAC... | AATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGAC... |
Task1_train_21377 | 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 | AATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGAC... | AATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGAC... |
Task1_train_21378 | 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 | AATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGAC... | AATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGAC... |
Task1_train_21379 | 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 | AATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGAC... | AATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGAC... |
Task1_train_21380 | This alteration occurs within gene FBN1 (fibrillin 1) located on Chromosome 15. Is it associated with a disease or is it a benign variant? | Pathogenic; Marfan syndrome | TATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAAT... | TATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAAT... |
Task1_train_21381 | 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 | TATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAAT... | TATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAAT... |
Task1_train_21382 | A genetic alteration is present in FBN1 (fibrillin 1) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Marfan syndrome | TATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAAT... | TATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAAT... |
Task1_train_21383 | 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 | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... |
Task1_train_21384 | A variant has been detected on Chromosome 15 in FBN1 (fibrillin 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... |
Task1_train_21385 | Chromosome 15 houses a mutation in gene FBN1 (fibrillin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... |
Task1_train_21386 | 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; Weill-Marchesani syndrome 2, dominant | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... |
Task1_train_21387 | 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; Acromicric dysplasia | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... |
Task1_train_21388 | 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; Ectopia lentis 1, isolated, autosomal dominant | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... |
Task1_train_21389 | 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 | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... |
Task1_train_21390 | The following genetic variant occurs in FBN1 (fibrillin 1) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; MASS syndrome | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... |
Task1_train_21391 | This gene mutation involves FBN1 (fibrillin 1) on Chromosome 15. Is it associated with any clinical condition, or is it benign? | Pathogenic; Progeroid and marfanoid aspect-lipodystrophy syndrome | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... |
Task1_train_21392 | This mutation occurs in FBN1 (fibrillin 1) on Chromosome 15. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Stiff skin syndrome | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... |
Task1_train_21393 | Gene FBN1 (fibrillin 1), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Geleophysic dysplasia 2 | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... |
Task1_train_21394 | 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/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... |
Task1_train_21395 | A sequence alteration has been identified in FBN1 (fibrillin 1) on Chromosome 15. Is it disease-inducing or harmless? | Pathogenic; not specified | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... |
Task1_train_21396 | 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 | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... |
Task1_train_21397 | 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; Ectopia lentis 1, isolated, autosomal dominant | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... | GATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTC... |
Task1_train_21398 | The following genetic variant occurs in FBN1 (fibrillin 1) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Marfan syndrome | AAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTCTTC... | AAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTCTTC... |
Task1_train_21399 | This is a variant in FBN1 (fibrillin 1), located on Chromosome 15. Is this mutation a likely cause of disease or not? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTCTTC... | AAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGTTTGGATTATTTATTTGCTACATAGCTTTTGACTCCTTTGAGAAGACCTCAAATACCCTTTCTGAAATAACAATAGTCTTC... |
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