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_21100 | A mutation found in FBN1 (fibrillin 1) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Marfan syndrome | TATTTGATATCATTGAGTACTTTCCCCTCGAGACATAATAACTATGACAAATACATTAGAAAAGGTAAAATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACA... | TATTTGATATCATTGAGTACTTTCCCCTCGAGACATAATAACTATGACAAATACATTAGAAAAGGTAAAATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACA... |
Task1_train_21101 | 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 | TATTTGATATCATTGAGTACTTTCCCCTCGAGACATAATAACTATGACAAATACATTAGAAAAGGTAAAATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACA... | TATTTGATATCATTGAGTACTTTCCCCTCGAGACATAATAACTATGACAAATACATTAGAAAAGGTAAAATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACA... |
Task1_train_21102 | 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 | TATTTGATATCATTGAGTACTTTCCCCTCGAGACATAATAACTATGACAAATACATTAGAAAAGGTAAAATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACA... | TATTTGATATCATTGAGTACTTTCCCCTCGAGACATAATAACTATGACAAATACATTAGAAAAGGTAAAATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACA... |
Task1_train_21103 | 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 | TATTTGATATCATTGAGTACTTTCCCCTCGAGACATAATAACTATGACAAATACATTAGAAAAGGTAAAATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACA... | TATTTGATATCATTGAGTACTTTCCCCTCGAGACATAATAACTATGACAAATACATTAGAAAAGGTAAAATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACA... |
Task1_train_21104 | Gene FBN1 (fibrillin 1) on Chromosome 15 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Marfan syndrome | ATTTGATATCATTGAGTACTTTCCCCTCGAGACATAATAACTATGACAAATACATTAGAAAAGGTAAAATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACAA... | ATTTGATATCATTGAGTACTTTCCCCTCGAGACATAATAACTATGACAAATACATTAGAAAAGGTAAAATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACAA... |
Task1_train_21105 | 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 | CGAGACATAATAACTATGACAAATACATTAGAAAAGGTAAAATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACAATTTAGTTTTCATATTTTGAAAGAAAGG... | CGAGACATAATAACTATGACAAATACATTAGAAAAGGTAAAATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACAATTTAGTTTTCATATTTTGAAAGAAAGG... |
Task1_train_21106 | 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 | CGAGACATAATAACTATGACAAATACATTAGAAAAGGTAAAATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACAATTTAGTTTTCATATTTTGAAAGAAAGG... | CGAGACATAATAACTATGACAAATACATTAGAAAAGGTAAAATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACAATTTAGTTTTCATATTTTGAAAGAAAGG... |
Task1_train_21107 | 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 | AAATACATTAGAAAAGGTAAAATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACAATTTAGTTTTCATATTTTGAAAGAAAGGATAGATGAACTGGTTGTCTT... | AAATACATTAGAAAAGGTAAAATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACAATTTAGTTTTCATATTTTGAAAGAAAGGATAGATGAACTGGTTGTCTT... |
Task1_train_21108 | Located on Chromosome 15, this mutation impacts FBN1 (fibrillin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AAATACATTAGAAAAGGTAAAATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACAATTTAGTTTTCATATTTTGAAAGAAAGGATAGATGAACTGGTTGTCTT... | AAATACATTAGAAAAGGTAAAATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACAATTTAGTTTTCATATTTTGAAAGAAAGGATAGATGAACTGGTTGTCTT... |
Task1_train_21109 | 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 | ATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACAATTTAGTTTTCATATTTTGAAAGAAAGGATAGATGAACTGGTTGTCTTAGTGTAAGTAGTTTAAGACTT... | ATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACAATTTAGTTTTCATATTTTGAAAGAAAGGATAGATGAACTGGTTGTCTTAGTGTAAGTAGTTTAAGACTT... |
Task1_train_21110 | 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 | ATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACAATTTAGTTTTCATATTTTGAAAGAAAGGATAGATGAACTGGTTGTCTTAGTGTAAGTAGTTTAAGACTT... | ATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACAATTTAGTTTTCATATTTTGAAAGAAAGGATAGATGAACTGGTTGTCTTAGTGTAAGTAGTTTAAGACTT... |
Task1_train_21111 | 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 | ATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACAATTTAGTTTTCATATTTTGAAAGAAAGGATAGATGAACTGGTTGTCTTAGTGTAAGTAGTTTAAGACTT... | ATGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACAATTTAGTTTTCATATTTTGAAAGAAAGGATAGATGAACTGGTTGTCTTAGTGTAAGTAGTTTAAGACTT... |
Task1_train_21112 | 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 | TGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACAATTTAGTTTTCATATTTTGAAAGAAAGGATAGATGAACTGGTTGTCTTAGTGTAAGTAGTTTAAGACTTC... | TGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACAATTTAGTTTTCATATTTTGAAAGAAAGGATAGATGAACTGGTTGTCTTAGTGTAAGTAGTTTAAGACTTC... |
Task1_train_21113 | 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 | TGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACAATTTAGTTTTCATATTTTGAAAGAAAGGATAGATGAACTGGTTGTCTTAGTGTAAGTAGTTTAAGACTTC... | TGCTTTCCCTCAGAAAAACAATGTTAAATTTTAGAGGCCAATTTACATTTGCTCTTCATTCTTTACATTGCAAGCTCATTATTCAGACTGGCTTTCATCTGGCCCATAAGCAGCAGGCCAGTTAATCAAATAAACAGATGGGCTCCATGCTGAGTTTAGAGCTCGTTTATGTGACAGTCTAGAAAACTTTTTAGAACAGCATACTCTATTGCAGGATGAAAAGTTTAATTCAGTCTGCATGATGATAACAATTTAGTTTTCATATTTTGAAAGAAAGGATAGATGAACTGGTTGTCTTAGTGTAAGTAGTTTAAGACTTC... |
Task1_train_21114 | 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 | CTGAGATGAAAAATACACTGTATGTGAGGAAAGGCAGATTAGAGATCGTAGAAGAAAAGTTTATCAAATTTGAAGGCATAACAATAGAAACTATACAAAACAAATAGATCAGTTCTAAAGTTTACTGCATTCTTGTCAGAAGTAAATTTTGTTTGCCTTTAGTCAAGGATTTAAAAAGCCTACATGATAGTCAAAGCAGAAGGAGGGTTAAGTGGACAAAAGTAATGGATAGGCATAAAAGAAATGTCCATCTGGAGCTGACGAATGGCCAGTCAGTCCTCATAACATATCTGACAAGAGTACCATTTAATAGCCACAAG... | CTGAGATGAAAAATACACTGTATGTGAGGAAAGGCAGATTAGAGATCGTAGAAGAAAAGTTTATCAAATTTGAAGGCATAACAATAGAAACTATACAAAACAAATAGATCAGTTCTAAAGTTTACTGCATTCTTGTCAGAAGTAAATTTTGTTTGCCTTTAGTCAAGGATTTAAAAAGCCTACATGATAGTCAAAGCAGAAGGAGGGTTAAGTGGACAAAAGTAATGGATAGGCATAAAAGAAATGTCCATCTGGAGCTGACGAATGGCCAGTCAGTCCTCATAACATATCTGACAAGAGTACCATTTAATAGCCACAAG... |
Task1_train_21115 | A change on Chromosome 15 affects gene FBN1 (fibrillin 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Marfan syndrome | CTGAGATGAAAAATACACTGTATGTGAGGAAAGGCAGATTAGAGATCGTAGAAGAAAAGTTTATCAAATTTGAAGGCATAACAATAGAAACTATACAAAACAAATAGATCAGTTCTAAAGTTTACTGCATTCTTGTCAGAAGTAAATTTTGTTTGCCTTTAGTCAAGGATTTAAAAAGCCTACATGATAGTCAAAGCAGAAGGAGGGTTAAGTGGACAAAAGTAATGGATAGGCATAAAAGAAATGTCCATCTGGAGCTGACGAATGGCCAGTCAGTCCTCATAACATATCTGACAAGAGTACCATTTAATAGCCACAAG... | CTGAGATGAAAAATACACTGTATGTGAGGAAAGGCAGATTAGAGATCGTAGAAGAAAAGTTTATCAAATTTGAAGGCATAACAATAGAAACTATACAAAACAAATAGATCAGTTCTAAAGTTTACTGCATTCTTGTCAGAAGTAAATTTTGTTTGCCTTTAGTCAAGGATTTAAAAAGCCTACATGATAGTCAAAGCAGAAGGAGGGTTAAGTGGACAAAAGTAATGGATAGGCATAAAAGAAATGTCCATCTGGAGCTGACGAATGGCCAGTCAGTCCTCATAACATATCTGACAAGAGTACCATTTAATAGCCACAAG... |
Task1_train_21116 | 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; Cardiovascular phenotype | AGATTAGAGATCGTAGAAGAAAAGTTTATCAAATTTGAAGGCATAACAATAGAAACTATACAAAACAAATAGATCAGTTCTAAAGTTTACTGCATTCTTGTCAGAAGTAAATTTTGTTTGCCTTTAGTCAAGGATTTAAAAAGCCTACATGATAGTCAAAGCAGAAGGAGGGTTAAGTGGACAAAAGTAATGGATAGGCATAAAAGAAATGTCCATCTGGAGCTGACGAATGGCCAGTCAGTCCTCATAACATATCTGACAAGAGTACCATTTAATAGCCACAAGAAAGCTCTCTTTGGAATGCTGGTTAAAATATGAGT... | AGATTAGAGATCGTAGAAGAAAAGTTTATCAAATTTGAAGGCATAACAATAGAAACTATACAAAACAAATAGATCAGTTCTAAAGTTTACTGCATTCTTGTCAGAAGTAAATTTTGTTTGCCTTTAGTCAAGGATTTAAAAAGCCTACATGATAGTCAAAGCAGAAGGAGGGTTAAGTGGACAAAAGTAATGGATAGGCATAAAAGAAATGTCCATCTGGAGCTGACGAATGGCCAGTCAGTCCTCATAACATATCTGACAAGAGTACCATTTAATAGCCACAAGAAAGCTCTCTTTGGAATGCTGGTTAAAATATGAGT... |
Task1_train_21117 | 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 | GAGATCGTAGAAGAAAAGTTTATCAAATTTGAAGGCATAACAATAGAAACTATACAAAACAAATAGATCAGTTCTAAAGTTTACTGCATTCTTGTCAGAAGTAAATTTTGTTTGCCTTTAGTCAAGGATTTAAAAAGCCTACATGATAGTCAAAGCAGAAGGAGGGTTAAGTGGACAAAAGTAATGGATAGGCATAAAAGAAATGTCCATCTGGAGCTGACGAATGGCCAGTCAGTCCTCATAACATATCTGACAAGAGTACCATTTAATAGCCACAAGAAAGCTCTCTTTGGAATGCTGGTTAAAATATGAGTATTGTG... | GAGATCGTAGAAGAAAAGTTTATCAAATTTGAAGGCATAACAATAGAAACTATACAAAACAAATAGATCAGTTCTAAAGTTTACTGCATTCTTGTCAGAAGTAAATTTTGTTTGCCTTTAGTCAAGGATTTAAAAAGCCTACATGATAGTCAAAGCAGAAGGAGGGTTAAGTGGACAAAAGTAATGGATAGGCATAAAAGAAATGTCCATCTGGAGCTGACGAATGGCCAGTCAGTCCTCATAACATATCTGACAAGAGTACCATTTAATAGCCACAAGAAAGCTCTCTTTGGAATGCTGGTTAAAATATGAGTATTGTG... |
Task1_train_21118 | 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 | AGATCGTAGAAGAAAAGTTTATCAAATTTGAAGGCATAACAATAGAAACTATACAAAACAAATAGATCAGTTCTAAAGTTTACTGCATTCTTGTCAGAAGTAAATTTTGTTTGCCTTTAGTCAAGGATTTAAAAAGCCTACATGATAGTCAAAGCAGAAGGAGGGTTAAGTGGACAAAAGTAATGGATAGGCATAAAAGAAATGTCCATCTGGAGCTGACGAATGGCCAGTCAGTCCTCATAACATATCTGACAAGAGTACCATTTAATAGCCACAAGAAAGCTCTCTTTGGAATGCTGGTTAAAATATGAGTATTGTGC... | AGATCGTAGAAGAAAAGTTTATCAAATTTGAAGGCATAACAATAGAAACTATACAAAACAAATAGATCAGTTCTAAAGTTTACTGCATTCTTGTCAGAAGTAAATTTTGTTTGCCTTTAGTCAAGGATTTAAAAAGCCTACATGATAGTCAAAGCAGAAGGAGGGTTAAGTGGACAAAAGTAATGGATAGGCATAAAAGAAATGTCCATCTGGAGCTGACGAATGGCCAGTCAGTCCTCATAACATATCTGACAAGAGTACCATTTAATAGCCACAAGAAAGCTCTCTTTGGAATGCTGGTTAAAATATGAGTATTGTGC... |
Task1_train_21119 | Given a variant located on Chromosome 15 and affecting FBN1 (fibrillin 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AGATCGTAGAAGAAAAGTTTATCAAATTTGAAGGCATAACAATAGAAACTATACAAAACAAATAGATCAGTTCTAAAGTTTACTGCATTCTTGTCAGAAGTAAATTTTGTTTGCCTTTAGTCAAGGATTTAAAAAGCCTACATGATAGTCAAAGCAGAAGGAGGGTTAAGTGGACAAAAGTAATGGATAGGCATAAAAGAAATGTCCATCTGGAGCTGACGAATGGCCAGTCAGTCCTCATAACATATCTGACAAGAGTACCATTTAATAGCCACAAGAAAGCTCTCTTTGGAATGCTGGTTAAAATATGAGTATTGTGC... | AGATCGTAGAAGAAAAGTTTATCAAATTTGAAGGCATAACAATAGAAACTATACAAAACAAATAGATCAGTTCTAAAGTTTACTGCATTCTTGTCAGAAGTAAATTTTGTTTGCCTTTAGTCAAGGATTTAAAAAGCCTACATGATAGTCAAAGCAGAAGGAGGGTTAAGTGGACAAAAGTAATGGATAGGCATAAAAGAAATGTCCATCTGGAGCTGACGAATGGCCAGTCAGTCCTCATAACATATCTGACAAGAGTACCATTTAATAGCCACAAGAAAGCTCTCTTTGGAATGCTGGTTAAAATATGAGTATTGTGC... |
Task1_train_21120 | Gene FBN1 (fibrillin 1), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | TTTGAAGGCATAACAATAGAAACTATACAAAACAAATAGATCAGTTCTAAAGTTTACTGCATTCTTGTCAGAAGTAAATTTTGTTTGCCTTTAGTCAAGGATTTAAAAAGCCTACATGATAGTCAAAGCAGAAGGAGGGTTAAGTGGACAAAAGTAATGGATAGGCATAAAAGAAATGTCCATCTGGAGCTGACGAATGGCCAGTCAGTCCTCATAACATATCTGACAAGAGTACCATTTAATAGCCACAAGAAAGCTCTCTTTGGAATGCTGGTTAAAATATGAGTATTGTGCCTCTAAATATCCTTACTTTTCCTATG... | TTTGAAGGCATAACAATAGAAACTATACAAAACAAATAGATCAGTTCTAAAGTTTACTGCATTCTTGTCAGAAGTAAATTTTGTTTGCCTTTAGTCAAGGATTTAAAAAGCCTACATGATAGTCAAAGCAGAAGGAGGGTTAAGTGGACAAAAGTAATGGATAGGCATAAAAGAAATGTCCATCTGGAGCTGACGAATGGCCAGTCAGTCCTCATAACATATCTGACAAGAGTACCATTTAATAGCCACAAGAAAGCTCTCTTTGGAATGCTGGTTAAAATATGAGTATTGTGCCTCTAAATATCCTTACTTTTCCTATG... |
Task1_train_21121 | 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 | AAACTATACAAAACAAATAGATCAGTTCTAAAGTTTACTGCATTCTTGTCAGAAGTAAATTTTGTTTGCCTTTAGTCAAGGATTTAAAAAGCCTACATGATAGTCAAAGCAGAAGGAGGGTTAAGTGGACAAAAGTAATGGATAGGCATAAAAGAAATGTCCATCTGGAGCTGACGAATGGCCAGTCAGTCCTCATAACATATCTGACAAGAGTACCATTTAATAGCCACAAGAAAGCTCTCTTTGGAATGCTGGTTAAAATATGAGTATTGTGCCTCTAAATATCCTTACTTTTCCTATGGAATCTTTCTATCACTGAC... | AAACTATACAAAACAAATAGATCAGTTCTAAAGTTTACTGCATTCTTGTCAGAAGTAAATTTTGTTTGCCTTTAGTCAAGGATTTAAAAAGCCTACATGATAGTCAAAGCAGAAGGAGGGTTAAGTGGACAAAAGTAATGGATAGGCATAAAAGAAATGTCCATCTGGAGCTGACGAATGGCCAGTCAGTCCTCATAACATATCTGACAAGAGTACCATTTAATAGCCACAAGAAAGCTCTCTTTGGAATGCTGGTTAAAATATGAGTATTGTGCCTCTAAATATCCTTACTTTTCCTATGGAATCTTTCTATCACTGAC... |
Task1_train_21122 | 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 | AAACTATACAAAACAAATAGATCAGTTCTAAAGTTTACTGCATTCTTGTCAGAAGTAAATTTTGTTTGCCTTTAGTCAAGGATTTAAAAAGCCTACATGATAGTCAAAGCAGAAGGAGGGTTAAGTGGACAAAAGTAATGGATAGGCATAAAAGAAATGTCCATCTGGAGCTGACGAATGGCCAGTCAGTCCTCATAACATATCTGACAAGAGTACCATTTAATAGCCACAAGAAAGCTCTCTTTGGAATGCTGGTTAAAATATGAGTATTGTGCCTCTAAATATCCTTACTTTTCCTATGGAATCTTTCTATCACTGAC... | AAACTATACAAAACAAATAGATCAGTTCTAAAGTTTACTGCATTCTTGTCAGAAGTAAATTTTGTTTGCCTTTAGTCAAGGATTTAAAAAGCCTACATGATAGTCAAAGCAGAAGGAGGGTTAAGTGGACAAAAGTAATGGATAGGCATAAAAGAAATGTCCATCTGGAGCTGACGAATGGCCAGTCAGTCCTCATAACATATCTGACAAGAGTACCATTTAATAGCCACAAGAAAGCTCTCTTTGGAATGCTGGTTAAAATATGAGTATTGTGCCTCTAAATATCCTTACTTTTCCTATGGAATCTTTCTATCACTGAC... |
Task1_train_21123 | 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; not provided | TGAATTAGGCCAAAACATCAAACTCTTCAAAAGTCTGGTCAATGAAGGAAAATGTATTTTATATTCCATTTATTATATGCCAGGTACTATGGTAAGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGG... | TGAATTAGGCCAAAACATCAAACTCTTCAAAAGTCTGGTCAATGAAGGAAAATGTATTTTATATTCCATTTATTATATGCCAGGTACTATGGTAAGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGG... |
Task1_train_21124 | This gene mutation involves FBN1 (fibrillin 1) on Chromosome 15. Is it associated with any clinical condition, or is it benign? | Pathogenic; Marfan syndrome | AGGCCAAAACATCAAACTCTTCAAAAGTCTGGTCAATGAAGGAAAATGTATTTTATATTCCATTTATTATATGCCAGGTACTATGGTAAGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGC... | AGGCCAAAACATCAAACTCTTCAAAAGTCTGGTCAATGAAGGAAAATGTATTTTATATTCCATTTATTATATGCCAGGTACTATGGTAAGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGC... |
Task1_train_21125 | 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 | GGCCAAAACATCAAACTCTTCAAAAGTCTGGTCAATGAAGGAAAATGTATTTTATATTCCATTTATTATATGCCAGGTACTATGGTAAGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCA... | GGCCAAAACATCAAACTCTTCAAAAGTCTGGTCAATGAAGGAAAATGTATTTTATATTCCATTTATTATATGCCAGGTACTATGGTAAGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCA... |
Task1_train_21126 | A variant found in Chromosome 15 affects FBN1 (fibrillin 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GGCCAAAACATCAAACTCTTCAAAAGTCTGGTCAATGAAGGAAAATGTATTTTATATTCCATTTATTATATGCCAGGTACTATGGTAAGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCA... | GGCCAAAACATCAAACTCTTCAAAAGTCTGGTCAATGAAGGAAAATGTATTTTATATTCCATTTATTATATGCCAGGTACTATGGTAAGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCA... |
Task1_train_21127 | Given a variant located on Chromosome 15 and affecting FBN1 (fibrillin 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CAAAAGTCTGGTCAATGAAGGAAAATGTATTTTATATTCCATTTATTATATGCCAGGTACTATGGTAAGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGA... | CAAAAGTCTGGTCAATGAAGGAAAATGTATTTTATATTCCATTTATTATATGCCAGGTACTATGGTAAGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGA... |
Task1_train_21128 | 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 | CAAAAGTCTGGTCAATGAAGGAAAATGTATTTTATATTCCATTTATTATATGCCAGGTACTATGGTAAGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGA... | CAAAAGTCTGGTCAATGAAGGAAAATGTATTTTATATTCCATTTATTATATGCCAGGTACTATGGTAAGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGA... |
Task1_train_21129 | 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 | TCTGGTCAATGAAGGAAAATGTATTTTATATTCCATTTATTATATGCCAGGTACTATGGTAAGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTA... | TCTGGTCAATGAAGGAAAATGTATTTTATATTCCATTTATTATATGCCAGGTACTATGGTAAGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTA... |
Task1_train_21130 | 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 | TCTGGTCAATGAAGGAAAATGTATTTTATATTCCATTTATTATATGCCAGGTACTATGGTAAGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTA... | TCTGGTCAATGAAGGAAAATGTATTTTATATTCCATTTATTATATGCCAGGTACTATGGTAAGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTA... |
Task1_train_21131 | 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 | CTGGTCAATGAAGGAAAATGTATTTTATATTCCATTTATTATATGCCAGGTACTATGGTAAGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTAC... | CTGGTCAATGAAGGAAAATGTATTTTATATTCCATTTATTATATGCCAGGTACTATGGTAAGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTAC... |
Task1_train_21132 | Here’s a variant in FBN1 (fibrillin 1) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CTGGTCAATGAAGGAAAATGTATTTTATATTCCATTTATTATATGCCAGGTACTATGGTAAGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTAC... | CTGGTCAATGAAGGAAAATGTATTTTATATTCCATTTATTATATGCCAGGTACTATGGTAAGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTAC... |
Task1_train_21133 | 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 | TTATATGCCAGGTACTATGGTAAGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCA... | TTATATGCCAGGTACTATGGTAAGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCA... |
Task1_train_21134 | 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 | TTATATGCCAGGTACTATGGTAAGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCA... | TTATATGCCAGGTACTATGGTAAGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCA... |
Task1_train_21135 | Gene FBN1 (fibrillin 1) on Chromosome 15 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Marfan syndrome | AACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACA... | AACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACA... |
Task1_train_21136 | A change on Chromosome 15 affects gene FBN1 (fibrillin 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Marfan syndrome | AACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACA... | AACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACA... |
Task1_train_21137 | Given a variant located on Chromosome 15 and affecting FBN1 (fibrillin 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACA... | AACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACA... |
Task1_train_21138 | 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 | AACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACA... | AACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACA... |
Task1_train_21139 | Consider this mutation in FBN1 (fibrillin 1) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | TAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACACTATTTAAGAGGCAGGGCCTTTAAAAGAGGTAATCATCCTATGAGG... | TAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACACTATTTAAGAGGCAGGGCCTTTAAAAGAGGTAATCATCCTATGAGG... |
Task1_train_21140 | 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, severe classic | AACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACACTATTTAAGAGGCAGGGCCTTTAAAAGAGGTAATCATCCTATGAGGGC... | AACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACACTATTTAAGAGGCAGGGCCTTTAAAAGAGGTAATCATCCTATGAGGGC... |
Task1_train_21141 | This variant affects gene FBN1 (fibrillin 1) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Neonatal Marfan syndrome | CTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACACTATTTAAGAGGCAGGGCCTTTAAAAGAGGTAATCATCCTATGAGGGCTCTACCCTCATGGTGGGAT... | CTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACACTATTTAAGAGGCAGGGCCTTTAAAAGAGGTAATCATCCTATGAGGGCTCTACCCTCATGGTGGGAT... |
Task1_train_21142 | 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 | GAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACACTATTTAAGAGGCAGGGCCTTTAAAAGAGGTAATCATCCTATGAGGGCTCTACCCTCATGGTGGGATCGGTG... | GAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACACTATTTAAGAGGCAGGGCCTTTAAAAGAGGTAATCATCCTATGAGGGCTCTACCCTCATGGTGGGATCGGTG... |
Task1_train_21143 | 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 | GAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACACTATTTAAGAGGCAGGGCCTTTAAAAGAGGTAATCATCCTATGAGGGCTCTACCCTCATGGTGGGATCGGTG... | GAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACACTATTTAAGAGGCAGGGCCTTTAAAAGAGGTAATCATCCTATGAGGGCTCTACCCTCATGGTGGGATCGGTG... |
Task1_train_21144 | 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 | AGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACACTATTTAAGAGGCAGGGCCTTTAAAAGAGGTAATCATCCTATGAGGGCTCTACCCTCATGGTGGGATCGGTGC... | AGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACACTATTTAAGAGGCAGGGCCTTTAAAAGAGGTAATCATCCTATGAGGGCTCTACCCTCATGGTGGGATCGGTGC... |
Task1_train_21145 | 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 | AGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACACTATTTAAGAGGCAGGGCCTTTAAAAGAGGTAATCATCCTATGAGGGCTCTACCCTCATGGTGGGATCGGTGC... | AGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACACTATTTAAGAGGCAGGGCCTTTAAAAGAGGTAATCATCCTATGAGGGCTCTACCCTCATGGTGGGATCGGTGC... |
Task1_train_21146 | 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; Geleophysic dysplasia 2 | TGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACACTATTTAAGAGGCAGGGCCTTTAAAAGAGGTAATCATCCTATGAGGGCTCTACCCTCATGGTGGGATCGGTGCTGTTATAAAAGATCAAGTTCAGCCCCCTCTTGCTC... | TGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACACTATTTAAGAGGCAGGGCCTTTAAAAGAGGTAATCATCCTATGAGGGCTCTACCCTCATGGTGGGATCGGTGCTGTTATAAAAGATCAAGTTCAGCCCCCTCTTGCTC... |
Task1_train_21147 | 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 | TGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACACTATTTAAGAGGCAGGGCCTTTAAAAGAGGTAATCATCCTATGAGGGCTCTACCCTCATGGTGGGATCGGTGCTGTTATAAAAGATCAAGTTCAGCCCCCTCTTGCTC... | TGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACACTATTTAAGAGGCAGGGCCTTTAAAAGAGGTAATCATCCTATGAGGGCTCTACCCTCATGGTGGGATCGGTGCTGTTATAAAAGATCAAGTTCAGCCCCCTCTTGCTC... |
Task1_train_21148 | Consider a variant on Chromosome 15 in gene FBN1 (fibrillin 1). Determine its clinical classification and disease relevance. | Pathogenic; Marfan syndrome | TGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACACTATTTAAGAGGCAGGGCCTTTAAAAGAGGTAATCATCCTATGAGGGCTCTACCCTCATGGTGGGATCGGTGCTGTTATAAAAGATCAAGTTCAGCCCCCTCTTGCTC... | TGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACACTATTTAAGAGGCAGGGCCTTTAAAAGAGGTAATCATCCTATGAGGGCTCTACCCTCATGGTGGGATCGGTGCTGTTATAAAAGATCAAGTTCAGCCCCCTCTTGCTC... |
Task1_train_21149 | 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 | GCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACACTATTTAAGAGGCAGGGCCTTTAAAAGAGGTAATCATCCTATGAGGGCTCTACCCTCATGGTGGGATCGGTGCTGTTATAAAAGATCAAGTTCAGCCCCCTCTTGCTCT... | GCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACACTATTTAAGAGGCAGGGCCTTTAAAAGAGGTAATCATCCTATGAGGGCTCTACCCTCATGGTGGGATCGGTGCTGTTATAAAAGATCAAGTTCAGCCCCCTCTTGCTCT... |
Task1_train_21150 | 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 | GCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACACTATTTAAGAGGCAGGGCCTTTAAAAGAGGTAATCATCCTATGAGGGCTCTACCCTCATGGTGGGATCGGTGCTGTTATAAAAGATCAAGTTCAGCCCCCTCTTGCTCT... | GCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGCATTCATCAATGTCTAAAAGAAATGAAAATAATATCACCTTCTGATATGGTTTGGATGTCTGTCCCCTCCAATACTCGTGTTGAAATTTAACTGCCATTGTAACACTATTTAAGAGGCAGGGCCTTTAAAAGAGGTAATCATCCTATGAGGGCTCTACCCTCATGGTGGGATCGGTGCTGTTATAAAAGATCAAGTTCAGCCCCCTCTTGCTCT... |
Task1_train_21151 | 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 | TGTGGCCAGGAGACAGATGAACAATTAATTGCACCATGCATGATGTGCCATTTGCAATGCAGGAGAAGTATTGGGTGCTAGGAGAACACATCTCAGTTATGATAATAGGCACGTGGATGAAATTCTCTTGGCCACAGATTCACTTATAAACTTGAAATTCAGTTTGATTGGCTGAGGTTCCAATCTTTTTCAATAACCTGAGTTGAAGTTCTGAGTTGTCCTGGGCCATGTTTCAGAAAACTTTGGGCTGATTTATGGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAA... | TGTGGCCAGGAGACAGATGAACAATTAATTGCACCATGCATGATGTGCCATTTGCAATGCAGGAGAAGTATTGGGTGCTAGGAGAACACATCTCAGTTATGATAATAGGCACGTGGATGAAATTCTCTTGGCCACAGATTCACTTATAAACTTGAAATTCAGTTTGATTGGCTGAGGTTCCAATCTTTTTCAATAACCTGAGTTGAAGTTCTGAGTTGTCCTGGGCCATGTTTCAGAAAACTTTGGGCTGATTTATGGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAA... |
Task1_train_21152 | 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 | CATTTGCAATGCAGGAGAAGTATTGGGTGCTAGGAGAACACATCTCAGTTATGATAATAGGCACGTGGATGAAATTCTCTTGGCCACAGATTCACTTATAAACTTGAAATTCAGTTTGATTGGCTGAGGTTCCAATCTTTTTCAATAACCTGAGTTGAAGTTCTGAGTTGTCCTGGGCCATGTTTCAGAAAACTTTGGGCTGATTTATGGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAA... | CATTTGCAATGCAGGAGAAGTATTGGGTGCTAGGAGAACACATCTCAGTTATGATAATAGGCACGTGGATGAAATTCTCTTGGCCACAGATTCACTTATAAACTTGAAATTCAGTTTGATTGGCTGAGGTTCCAATCTTTTTCAATAACCTGAGTTGAAGTTCTGAGTTGTCCTGGGCCATGTTTCAGAAAACTTTGGGCTGATTTATGGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAA... |
Task1_train_21153 | 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; Neonatal Marfan syndrome | TGCTAGGAGAACACATCTCAGTTATGATAATAGGCACGTGGATGAAATTCTCTTGGCCACAGATTCACTTATAAACTTGAAATTCAGTTTGATTGGCTGAGGTTCCAATCTTTTTCAATAACCTGAGTTGAAGTTCTGAGTTGTCCTGGGCCATGTTTCAGAAAACTTTGGGCTGATTTATGGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTC... | TGCTAGGAGAACACATCTCAGTTATGATAATAGGCACGTGGATGAAATTCTCTTGGCCACAGATTCACTTATAAACTTGAAATTCAGTTTGATTGGCTGAGGTTCCAATCTTTTTCAATAACCTGAGTTGAAGTTCTGAGTTGTCCTGGGCCATGTTTCAGAAAACTTTGGGCTGATTTATGGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTC... |
Task1_train_21154 | 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 | GCTAGGAGAACACATCTCAGTTATGATAATAGGCACGTGGATGAAATTCTCTTGGCCACAGATTCACTTATAAACTTGAAATTCAGTTTGATTGGCTGAGGTTCCAATCTTTTTCAATAACCTGAGTTGAAGTTCTGAGTTGTCCTGGGCCATGTTTCAGAAAACTTTGGGCTGATTTATGGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCA... | GCTAGGAGAACACATCTCAGTTATGATAATAGGCACGTGGATGAAATTCTCTTGGCCACAGATTCACTTATAAACTTGAAATTCAGTTTGATTGGCTGAGGTTCCAATCTTTTTCAATAACCTGAGTTGAAGTTCTGAGTTGTCCTGGGCCATGTTTCAGAAAACTTTGGGCTGATTTATGGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCA... |
Task1_train_21155 | 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 | GCTAGGAGAACACATCTCAGTTATGATAATAGGCACGTGGATGAAATTCTCTTGGCCACAGATTCACTTATAAACTTGAAATTCAGTTTGATTGGCTGAGGTTCCAATCTTTTTCAATAACCTGAGTTGAAGTTCTGAGTTGTCCTGGGCCATGTTTCAGAAAACTTTGGGCTGATTTATGGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCA... | GCTAGGAGAACACATCTCAGTTATGATAATAGGCACGTGGATGAAATTCTCTTGGCCACAGATTCACTTATAAACTTGAAATTCAGTTTGATTGGCTGAGGTTCCAATCTTTTTCAATAACCTGAGTTGAAGTTCTGAGTTGTCCTGGGCCATGTTTCAGAAAACTTTGGGCTGATTTATGGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCA... |
Task1_train_21156 | This sequence change occurs on Chromosome 15, altering FBN1 (fibrillin 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | GCTAGGAGAACACATCTCAGTTATGATAATAGGCACGTGGATGAAATTCTCTTGGCCACAGATTCACTTATAAACTTGAAATTCAGTTTGATTGGCTGAGGTTCCAATCTTTTTCAATAACCTGAGTTGAAGTTCTGAGTTGTCCTGGGCCATGTTTCAGAAAACTTTGGGCTGATTTATGGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCA... | GCTAGGAGAACACATCTCAGTTATGATAATAGGCACGTGGATGAAATTCTCTTGGCCACAGATTCACTTATAAACTTGAAATTCAGTTTGATTGGCTGAGGTTCCAATCTTTTTCAATAACCTGAGTTGAAGTTCTGAGTTGTCCTGGGCCATGTTTCAGAAAACTTTGGGCTGATTTATGGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCA... |
Task1_train_21157 | A genomic change on Chromosome 15 affects FBN1 (fibrillin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | CGTGGATGAAATTCTCTTGGCCACAGATTCACTTATAAACTTGAAATTCAGTTTGATTGGCTGAGGTTCCAATCTTTTTCAATAACCTGAGTTGAAGTTCTGAGTTGTCCTGGGCCATGTTTCAGAAAACTTTGGGCTGATTTATGGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAA... | CGTGGATGAAATTCTCTTGGCCACAGATTCACTTATAAACTTGAAATTCAGTTTGATTGGCTGAGGTTCCAATCTTTTTCAATAACCTGAGTTGAAGTTCTGAGTTGTCCTGGGCCATGTTTCAGAAAACTTTGGGCTGATTTATGGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAA... |
Task1_train_21158 | This mutation occurs in FBN1 (fibrillin 1) on Chromosome 15. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Neonatal Marfan syndrome | GTGGATGAAATTCTCTTGGCCACAGATTCACTTATAAACTTGAAATTCAGTTTGATTGGCTGAGGTTCCAATCTTTTTCAATAACCTGAGTTGAAGTTCTGAGTTGTCCTGGGCCATGTTTCAGAAAACTTTGGGCTGATTTATGGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAG... | GTGGATGAAATTCTCTTGGCCACAGATTCACTTATAAACTTGAAATTCAGTTTGATTGGCTGAGGTTCCAATCTTTTTCAATAACCTGAGTTGAAGTTCTGAGTTGTCCTGGGCCATGTTTCAGAAAACTTTGGGCTGATTTATGGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAG... |
Task1_train_21159 | 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 | GATGAAATTCTCTTGGCCACAGATTCACTTATAAACTTGAAATTCAGTTTGATTGGCTGAGGTTCCAATCTTTTTCAATAACCTGAGTTGAAGTTCTGAGTTGTCCTGGGCCATGTTTCAGAAAACTTTGGGCTGATTTATGGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAA... | GATGAAATTCTCTTGGCCACAGATTCACTTATAAACTTGAAATTCAGTTTGATTGGCTGAGGTTCCAATCTTTTTCAATAACCTGAGTTGAAGTTCTGAGTTGTCCTGGGCCATGTTTCAGAAAACTTTGGGCTGATTTATGGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAA... |
Task1_train_21160 | 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 | GATGAAATTCTCTTGGCCACAGATTCACTTATAAACTTGAAATTCAGTTTGATTGGCTGAGGTTCCAATCTTTTTCAATAACCTGAGTTGAAGTTCTGAGTTGTCCTGGGCCATGTTTCAGAAAACTTTGGGCTGATTTATGGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAA... | GATGAAATTCTCTTGGCCACAGATTCACTTATAAACTTGAAATTCAGTTTGATTGGCTGAGGTTCCAATCTTTTTCAATAACCTGAGTTGAAGTTCTGAGTTGTCCTGGGCCATGTTTCAGAAAACTTTGGGCTGATTTATGGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAA... |
Task1_train_21161 | 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 | GATGAAATTCTCTTGGCCACAGATTCACTTATAAACTTGAAATTCAGTTTGATTGGCTGAGGTTCCAATCTTTTTCAATAACCTGAGTTGAAGTTCTGAGTTGTCCTGGGCCATGTTTCAGAAAACTTTGGGCTGATTTATGGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAA... | GATGAAATTCTCTTGGCCACAGATTCACTTATAAACTTGAAATTCAGTTTGATTGGCTGAGGTTCCAATCTTTTTCAATAACCTGAGTTGAAGTTCTGAGTTGTCCTGGGCCATGTTTCAGAAAACTTTGGGCTGATTTATGGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAA... |
Task1_train_21162 | 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 | GGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCA... | GGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCA... |
Task1_train_21163 | The gene FBN1 (fibrillin 1), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCA... | GGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCA... |
Task1_train_21164 | 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 | GCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTT... | GCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTT... |
Task1_train_21165 | 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 | GCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTT... | GCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTT... |
Task1_train_21166 | 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 | GCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTT... | GCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTT... |
Task1_train_21167 | Mutation context: Chromosome 15, Gene FBN1 (fibrillin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTT... | GCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTT... |
Task1_train_21168 | 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 | CATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCAC... | CATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCAC... |
Task1_train_21169 | 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 | CATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCAC... | CATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCAC... |
Task1_train_21170 | A mutation found in FBN1 (fibrillin 1) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Marfan syndrome | CATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCAC... | CATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCAC... |
Task1_train_21171 | 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 | TGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCACTCACC... | TGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCACTCACC... |
Task1_train_21172 | A mutation in FBN1 (fibrillin 1), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Marfan syndrome | GTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCACTCACCG... | GTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCACTCACCG... |
Task1_train_21173 | 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 | GTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCACTCACCG... | GTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCACTCACCG... |
Task1_train_21174 | 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 | CAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCACTCACCGTGTTTAGTTTATTTCAGGTGGTTAGTT... | CAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCACTCACCGTGTTTAGTTTATTTCAGGTGGTTAGTT... |
Task1_train_21175 | 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; Familial thoracic aortic aneurysm and aortic dissection | CAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCACTCACCGTGTTTAGTTTATTTCAGGTGGTTAGTT... | CAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCACTCACCGTGTTTAGTTTATTTCAGGTGGTTAGTT... |
Task1_train_21176 | 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 | TTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCACTCACCGTGTTTAGTTTATTTCAGGTGGTTAGTTACCATTTGTTAATGT... | TTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCACTCACCGTGTTTAGTTTATTTCAGGTGGTTAGTTACCATTTGTTAATGT... |
Task1_train_21177 | A genetic alteration is present in FBN1 (fibrillin 1) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCACTCACCGTGTTTAGTTTATTTCAGGTGGTTAGTTACCATTTGTTAATGT... | TTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCACTCACCGTGTTTAGTTTATTTCAGGTGGTTAGTTACCATTTGTTAATGT... |
Task1_train_21178 | Given a variant located on Chromosome 15 and affecting FBN1 (fibrillin 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | ATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCACTCACCGTGTTTAGTTTATTTCAGGTGGTTAGTTACCATTTGTTAATGTGCATTGGTATGCATGTGTGTA... | ATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCACTCACCGTGTTTAGTTTATTTCAGGTGGTTAGTTACCATTTGTTAATGTGCATTGGTATGCATGTGTGTA... |
Task1_train_21179 | 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 | ATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCACTCACCGTGTTTAGTTTATTTCAGGTGGTTAGTTACCATTTGTTAATGTGCATTGGTATGCATGTGTGTA... | ATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCACTCACCGTGTTTAGTTTATTTCAGGTGGTTAGTTACCATTTGTTAATGTGCATTGGTATGCATGTGTGTA... |
Task1_train_21180 | This variant affects gene FBN1 (fibrillin 1) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | AGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCACTCACCGTGTTTAGTTTATTTCAGGTGGTTAGTTACCATTTGTTAATGTGCATTGGTATGCATGTGTGTAGACA... | AGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCACTCACCGTGTTTAGTTTATTTCAGGTGGTTAGTTACCATTTGTTAATGTGCATTGGTATGCATGTGTGTAGACA... |
Task1_train_21181 | 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 | CAATTGTCCTCTCTTCCGCCTGGGTATCCATTTCAGGTGTTAAAATCACTTCTCAAGGGCCCACAACTGGTCTCCGCCATCACCCACAAACCCACAGCATGAATTCCCTCATTCTTTCTACCTCAGTCTCCCTCTGTTGCAGACTGATTCCTAACTTCACTGGTTGCACTGGGGCAGCAGGAAGAACCTGGAACATAGGCTATGAGCCATCAAAGCTTCATGGAATCCTTCTCTTTCTGTGTTGATCAAATGATCCCAAACTTACCCATGCAGTTCTTCATCATCATGAATCCACTTTCATAGCCTTCGTCACACTTGCA... | CAATTGTCCTCTCTTCCGCCTGGGTATCCATTTCAGGTGTTAAAATCACTTCTCAAGGGCCCACAACTGGTCTCCGCCATCACCCACAAACCCACAGCATGAATTCCCTCATTCTTTCTACCTCAGTCTCCCTCTGTTGCAGACTGATTCCTAACTTCACTGGTTGCACTGGGGCAGCAGGAAGAACCTGGAACATAGGCTATGAGCCATCAAAGCTTCATGGAATCCTTCTCTTTCTGTGTTGATCAAATGATCCCAAACTTACCCATGCAGTTCTTCATCATCATGAATCCACTTTCATAGCCTTCGTCACACTTGCA... |
Task1_train_21182 | 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 | TCCGCCTGGGTATCCATTTCAGGTGTTAAAATCACTTCTCAAGGGCCCACAACTGGTCTCCGCCATCACCCACAAACCCACAGCATGAATTCCCTCATTCTTTCTACCTCAGTCTCCCTCTGTTGCAGACTGATTCCTAACTTCACTGGTTGCACTGGGGCAGCAGGAAGAACCTGGAACATAGGCTATGAGCCATCAAAGCTTCATGGAATCCTTCTCTTTCTGTGTTGATCAAATGATCCCAAACTTACCCATGCAGTTCTTCATCATCATGAATCCACTTTCATAGCCTTCGTCACACTTGCATTCAAAGTCCCCAG... | TCCGCCTGGGTATCCATTTCAGGTGTTAAAATCACTTCTCAAGGGCCCACAACTGGTCTCCGCCATCACCCACAAACCCACAGCATGAATTCCCTCATTCTTTCTACCTCAGTCTCCCTCTGTTGCAGACTGATTCCTAACTTCACTGGTTGCACTGGGGCAGCAGGAAGAACCTGGAACATAGGCTATGAGCCATCAAAGCTTCATGGAATCCTTCTCTTTCTGTGTTGATCAAATGATCCCAAACTTACCCATGCAGTTCTTCATCATCATGAATCCACTTTCATAGCCTTCGTCACACTTGCATTCAAAGTCCCCAG... |
Task1_train_21183 | 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 | TCCGCCTGGGTATCCATTTCAGGTGTTAAAATCACTTCTCAAGGGCCCACAACTGGTCTCCGCCATCACCCACAAACCCACAGCATGAATTCCCTCATTCTTTCTACCTCAGTCTCCCTCTGTTGCAGACTGATTCCTAACTTCACTGGTTGCACTGGGGCAGCAGGAAGAACCTGGAACATAGGCTATGAGCCATCAAAGCTTCATGGAATCCTTCTCTTTCTGTGTTGATCAAATGATCCCAAACTTACCCATGCAGTTCTTCATCATCATGAATCCACTTTCATAGCCTTCGTCACACTTGCATTCAAAGTCCCCAG... | TCCGCCTGGGTATCCATTTCAGGTGTTAAAATCACTTCTCAAGGGCCCACAACTGGTCTCCGCCATCACCCACAAACCCACAGCATGAATTCCCTCATTCTTTCTACCTCAGTCTCCCTCTGTTGCAGACTGATTCCTAACTTCACTGGTTGCACTGGGGCAGCAGGAAGAACCTGGAACATAGGCTATGAGCCATCAAAGCTTCATGGAATCCTTCTCTTTCTGTGTTGATCAAATGATCCCAAACTTACCCATGCAGTTCTTCATCATCATGAATCCACTTTCATAGCCTTCGTCACACTTGCATTCAAAGTCCCCAG... |
Task1_train_21184 | 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 | CCGCCTGGGTATCCATTTCAGGTGTTAAAATCACTTCTCAAGGGCCCACAACTGGTCTCCGCCATCACCCACAAACCCACAGCATGAATTCCCTCATTCTTTCTACCTCAGTCTCCCTCTGTTGCAGACTGATTCCTAACTTCACTGGTTGCACTGGGGCAGCAGGAAGAACCTGGAACATAGGCTATGAGCCATCAAAGCTTCATGGAATCCTTCTCTTTCTGTGTTGATCAAATGATCCCAAACTTACCCATGCAGTTCTTCATCATCATGAATCCACTTTCATAGCCTTCGTCACACTTGCATTCAAAGTCCCCAGG... | CCGCCTGGGTATCCATTTCAGGTGTTAAAATCACTTCTCAAGGGCCCACAACTGGTCTCCGCCATCACCCACAAACCCACAGCATGAATTCCCTCATTCTTTCTACCTCAGTCTCCCTCTGTTGCAGACTGATTCCTAACTTCACTGGTTGCACTGGGGCAGCAGGAAGAACCTGGAACATAGGCTATGAGCCATCAAAGCTTCATGGAATCCTTCTCTTTCTGTGTTGATCAAATGATCCCAAACTTACCCATGCAGTTCTTCATCATCATGAATCCACTTTCATAGCCTTCGTCACACTTGCATTCAAAGTCCCCAGG... |
Task1_train_21185 | 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 | CCGCCTGGGTATCCATTTCAGGTGTTAAAATCACTTCTCAAGGGCCCACAACTGGTCTCCGCCATCACCCACAAACCCACAGCATGAATTCCCTCATTCTTTCTACCTCAGTCTCCCTCTGTTGCAGACTGATTCCTAACTTCACTGGTTGCACTGGGGCAGCAGGAAGAACCTGGAACATAGGCTATGAGCCATCAAAGCTTCATGGAATCCTTCTCTTTCTGTGTTGATCAAATGATCCCAAACTTACCCATGCAGTTCTTCATCATCATGAATCCACTTTCATAGCCTTCGTCACACTTGCATTCAAAGTCCCCAGG... | CCGCCTGGGTATCCATTTCAGGTGTTAAAATCACTTCTCAAGGGCCCACAACTGGTCTCCGCCATCACCCACAAACCCACAGCATGAATTCCCTCATTCTTTCTACCTCAGTCTCCCTCTGTTGCAGACTGATTCCTAACTTCACTGGTTGCACTGGGGCAGCAGGAAGAACCTGGAACATAGGCTATGAGCCATCAAAGCTTCATGGAATCCTTCTCTTTCTGTGTTGATCAAATGATCCCAAACTTACCCATGCAGTTCTTCATCATCATGAATCCACTTTCATAGCCTTCGTCACACTTGCATTCAAAGTCCCCAGG... |
Task1_train_21186 | The variant affects gene FBN1 (fibrillin 1), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CTCAAGGGCCCACAACTGGTCTCCGCCATCACCCACAAACCCACAGCATGAATTCCCTCATTCTTTCTACCTCAGTCTCCCTCTGTTGCAGACTGATTCCTAACTTCACTGGTTGCACTGGGGCAGCAGGAAGAACCTGGAACATAGGCTATGAGCCATCAAAGCTTCATGGAATCCTTCTCTTTCTGTGTTGATCAAATGATCCCAAACTTACCCATGCAGTTCTTCATCATCATGAATCCACTTTCATAGCCTTCGTCACACTTGCATTCAAAGTCCCCAGGGGTGTTCACACACTGGCCTCTGCCACAGAGGTCAGG... | CTCAAGGGCCCACAACTGGTCTCCGCCATCACCCACAAACCCACAGCATGAATTCCCTCATTCTTTCTACCTCAGTCTCCCTCTGTTGCAGACTGATTCCTAACTTCACTGGTTGCACTGGGGCAGCAGGAAGAACCTGGAACATAGGCTATGAGCCATCAAAGCTTCATGGAATCCTTCTCTTTCTGTGTTGATCAAATGATCCCAAACTTACCCATGCAGTTCTTCATCATCATGAATCCACTTTCATAGCCTTCGTCACACTTGCATTCAAAGTCCCCAGGGGTGTTCACACACTGGCCTCTGCCACAGAGGTCAGG... |
Task1_train_21187 | 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 | CTCAAGGGCCCACAACTGGTCTCCGCCATCACCCACAAACCCACAGCATGAATTCCCTCATTCTTTCTACCTCAGTCTCCCTCTGTTGCAGACTGATTCCTAACTTCACTGGTTGCACTGGGGCAGCAGGAAGAACCTGGAACATAGGCTATGAGCCATCAAAGCTTCATGGAATCCTTCTCTTTCTGTGTTGATCAAATGATCCCAAACTTACCCATGCAGTTCTTCATCATCATGAATCCACTTTCATAGCCTTCGTCACACTTGCATTCAAAGTCCCCAGGGGTGTTCACACACTGGCCTCTGCCACAGAGGTCAGG... | CTCAAGGGCCCACAACTGGTCTCCGCCATCACCCACAAACCCACAGCATGAATTCCCTCATTCTTTCTACCTCAGTCTCCCTCTGTTGCAGACTGATTCCTAACTTCACTGGTTGCACTGGGGCAGCAGGAAGAACCTGGAACATAGGCTATGAGCCATCAAAGCTTCATGGAATCCTTCTCTTTCTGTGTTGATCAAATGATCCCAAACTTACCCATGCAGTTCTTCATCATCATGAATCCACTTTCATAGCCTTCGTCACACTTGCATTCAAAGTCCCCAGGGGTGTTCACACACTGGCCTCTGCCACAGAGGTCAGG... |
Task1_train_21188 | 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 | GCAGGAAGAACCTGGAACATAGGCTATGAGCCATCAAAGCTTCATGGAATCCTTCTCTTTCTGTGTTGATCAAATGATCCCAAACTTACCCATGCAGTTCTTCATCATCATGAATCCACTTTCATAGCCTTCGTCACACTTGCATTCAAAGTCCCCAGGGGTGTTCACACACTGGCCTCTGCCACAGAGGTCAGGAGATATGCGGCATTCGTCAATGTCTGCACAAAAACAGCAAGTGGCAGCAAATGAGTCTCAGGACAGCCTTAATTCTTGCGACAATATGTTAAAGATAAAGAGTTTTAAAGGACGTCCCCTCTCCT... | GCAGGAAGAACCTGGAACATAGGCTATGAGCCATCAAAGCTTCATGGAATCCTTCTCTTTCTGTGTTGATCAAATGATCCCAAACTTACCCATGCAGTTCTTCATCATCATGAATCCACTTTCATAGCCTTCGTCACACTTGCATTCAAAGTCCCCAGGGGTGTTCACACACTGGCCTCTGCCACAGAGGTCAGGAGATATGCGGCATTCGTCAATGTCTGCACAAAAACAGCAAGTGGCAGCAAATGAGTCTCAGGACAGCCTTAATTCTTGCGACAATATGTTAAAGATAAAGAGTTTTAAAGGACGTCCCCTCTCCT... |
Task1_train_21189 | 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 | GCAGGAAGAACCTGGAACATAGGCTATGAGCCATCAAAGCTTCATGGAATCCTTCTCTTTCTGTGTTGATCAAATGATCCCAAACTTACCCATGCAGTTCTTCATCATCATGAATCCACTTTCATAGCCTTCGTCACACTTGCATTCAAAGTCCCCAGGGGTGTTCACACACTGGCCTCTGCCACAGAGGTCAGGAGATATGCGGCATTCGTCAATGTCTGCACAAAAACAGCAAGTGGCAGCAAATGAGTCTCAGGACAGCCTTAATTCTTGCGACAATATGTTAAAGATAAAGAGTTTTAAAGGACGTCCCCTCTCCT... | GCAGGAAGAACCTGGAACATAGGCTATGAGCCATCAAAGCTTCATGGAATCCTTCTCTTTCTGTGTTGATCAAATGATCCCAAACTTACCCATGCAGTTCTTCATCATCATGAATCCACTTTCATAGCCTTCGTCACACTTGCATTCAAAGTCCCCAGGGGTGTTCACACACTGGCCTCTGCCACAGAGGTCAGGAGATATGCGGCATTCGTCAATGTCTGCACAAAAACAGCAAGTGGCAGCAAATGAGTCTCAGGACAGCCTTAATTCTTGCGACAATATGTTAAAGATAAAGAGTTTTAAAGGACGTCCCCTCTCCT... |
Task1_train_21190 | 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 | TGCGTGCATGCCATGATGTCTTGGCATGTCCTCCACAGCTAAAAGCCAACTGTACTCTTTATTGTTGGAGCGTGTCTGCCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAG... | TGCGTGCATGCCATGATGTCTTGGCATGTCCTCCACAGCTAAAAGCCAACTGTACTCTTTATTGTTGGAGCGTGTCTGCCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAG... |
Task1_train_21191 | 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 | TGCGTGCATGCCATGATGTCTTGGCATGTCCTCCACAGCTAAAAGCCAACTGTACTCTTTATTGTTGGAGCGTGTCTGCCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAG... | TGCGTGCATGCCATGATGTCTTGGCATGTCCTCCACAGCTAAAAGCCAACTGTACTCTTTATTGTTGGAGCGTGTCTGCCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAG... |
Task1_train_21192 | 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 | GCATGCCATGATGTCTTGGCATGTCCTCCACAGCTAAAAGCCAACTGTACTCTTTATTGTTGGAGCGTGTCTGCCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAG... | GCATGCCATGATGTCTTGGCATGTCCTCCACAGCTAAAAGCCAACTGTACTCTTTATTGTTGGAGCGTGTCTGCCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAG... |
Task1_train_21193 | Here is a variant affecting FBN1 (fibrillin 1) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Marfan syndrome | GCATGCCATGATGTCTTGGCATGTCCTCCACAGCTAAAAGCCAACTGTACTCTTTATTGTTGGAGCGTGTCTGCCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAG... | GCATGCCATGATGTCTTGGCATGTCCTCCACAGCTAAAAGCCAACTGTACTCTTTATTGTTGGAGCGTGTCTGCCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAG... |
Task1_train_21194 | 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 | CATGCCATGATGTCTTGGCATGTCCTCCACAGCTAAAAGCCAACTGTACTCTTTATTGTTGGAGCGTGTCTGCCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGC... | CATGCCATGATGTCTTGGCATGTCCTCCACAGCTAAAAGCCAACTGTACTCTTTATTGTTGGAGCGTGTCTGCCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGC... |
Task1_train_21195 | 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 | CATGCCATGATGTCTTGGCATGTCCTCCACAGCTAAAAGCCAACTGTACTCTTTATTGTTGGAGCGTGTCTGCCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGC... | CATGCCATGATGTCTTGGCATGTCCTCCACAGCTAAAAGCCAACTGTACTCTTTATTGTTGGAGCGTGTCTGCCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGC... |
Task1_train_21196 | 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 | GCCAACTGTACTCTTTATTGTTGGAGCGTGTCTGCCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCCTCTTC... | GCCAACTGTACTCTTTATTGTTGGAGCGTGTCTGCCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCCTCTTC... |
Task1_train_21197 | A change on Chromosome 15 affects gene FBN1 (fibrillin 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Marfan syndrome | GCCAACTGTACTCTTTATTGTTGGAGCGTGTCTGCCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCCTCTTC... | GCCAACTGTACTCTTTATTGTTGGAGCGTGTCTGCCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCCTCTTC... |
Task1_train_21198 | Gene FBN1 (fibrillin 1), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Marfan syndrome | GCCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCCTCTTCTGTAACTCAGTGGATTGTCTTCAATAAATTATC... | GCCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCCTCTTCTGTAACTCAGTGGATTGTCTTCAATAAATTATC... |
Task1_train_21199 | Gene FBN1 (fibrillin 1), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Marfan syndrome | GCCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCCTCTTCTGTAACTCAGTGGATTGTCTTCAATAAATTATC... | GCCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCCTCTTCTGTAACTCAGTGGATTGTCTTCAATAAATTATC... |
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