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_20800 | 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 | ATGTGTGTATATATATGTGTGTATATATATGTGTATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGCCTTCTAACCCATCCACCTAGAATACTCACCATTCTTATTCTGACACATCCCTTGGGGAGAATATCTCCCCTTAGGAAAGAAATAATTTTGAGAAATAACATTGATATTTTAGCTATCTAAGGCACAGAAGAGTAATGGCTCTTGTCAACAGTTGTTTCTTGTGCTGAGGTTCTTAAGTCAAAAGTAAAGGCAAGAGGCTATGGTGGGGAGCTCCTAGGCGAAGAGGCTCATTTCAT... | ATGTGTGTATATATATGTGTGTATATATATGTGTATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGCCTTCTAACCCATCCACCTAGAATACTCACCATTCTTATTCTGACACATCCCTTGGGGAGAATATCTCCCCTTAGGAAAGAAATAATTTTGAGAAATAACATTGATATTTTAGCTATCTAAGGCACAGAAGAGTAATGGCTCTTGTCAACAGTTGTTTCTTGTGCTGAGGTTCTTAAGTCAAAAGTAAAGGCAAGAGGCTATGGTGGGGAGCTCCTAGGCGAAGAGGCTCATTTCAT... |
Task1_train_20801 | 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; not provided | TGTGTGTATATATATGTGTGTATATATATGTGTATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGCCTTCTAACCCATCCACCTAGAATACTCACCATTCTTATTCTGACACATCCCTTGGGGAGAATATCTCCCCTTAGGAAAGAAATAATTTTGAGAAATAACATTGATATTTTAGCTATCTAAGGCACAGAAGAGTAATGGCTCTTGTCAACAGTTGTTTCTTGTGCTGAGGTTCTTAAGTCAAAAGTAAAGGCAAGAGGCTATGGTGGGGAGCTCCTAGGCGAAGAGGCTCATTTCATA... | TGTGTGTATATATATGTGTGTATATATATGTGTATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGCCTTCTAACCCATCCACCTAGAATACTCACCATTCTTATTCTGACACATCCCTTGGGGAGAATATCTCCCCTTAGGAAAGAAATAATTTTGAGAAATAACATTGATATTTTAGCTATCTAAGGCACAGAAGAGTAATGGCTCTTGTCAACAGTTGTTTCTTGTGCTGAGGTTCTTAAGTCAAAAGTAAAGGCAAGAGGCTATGGTGGGGAGCTCCTAGGCGAAGAGGCTCATTTCATA... |
Task1_train_20802 | 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 | TGTGTGTATATATATGTGTGTATATATATGTGTATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGCCTTCTAACCCATCCACCTAGAATACTCACCATTCTTATTCTGACACATCCCTTGGGGAGAATATCTCCCCTTAGGAAAGAAATAATTTTGAGAAATAACATTGATATTTTAGCTATCTAAGGCACAGAAGAGTAATGGCTCTTGTCAACAGTTGTTTCTTGTGCTGAGGTTCTTAAGTCAAAAGTAAAGGCAAGAGGCTATGGTGGGGAGCTCCTAGGCGAAGAGGCTCATTTCATA... | TGTGTGTATATATATGTGTGTATATATATGTGTATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGCCTTCTAACCCATCCACCTAGAATACTCACCATTCTTATTCTGACACATCCCTTGGGGAGAATATCTCCCCTTAGGAAAGAAATAATTTTGAGAAATAACATTGATATTTTAGCTATCTAAGGCACAGAAGAGTAATGGCTCTTGTCAACAGTTGTTTCTTGTGCTGAGGTTCTTAAGTCAAAAGTAAAGGCAAGAGGCTATGGTGGGGAGCTCCTAGGCGAAGAGGCTCATTTCATA... |
Task1_train_20803 | 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 | TGTGTGTATATATATGTGTGTATATATATGTGTATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGCCTTCTAACCCATCCACCTAGAATACTCACCATTCTTATTCTGACACATCCCTTGGGGAGAATATCTCCCCTTAGGAAAGAAATAATTTTGAGAAATAACATTGATATTTTAGCTATCTAAGGCACAGAAGAGTAATGGCTCTTGTCAACAGTTGTTTCTTGTGCTGAGGTTCTTAAGTCAAAAGTAAAGGCAAGAGGCTATGGTGGGGAGCTCCTAGGCGAAGAGGCTCATTTCATA... | TGTGTGTATATATATGTGTGTATATATATGTGTATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGCCTTCTAACCCATCCACCTAGAATACTCACCATTCTTATTCTGACACATCCCTTGGGGAGAATATCTCCCCTTAGGAAAGAAATAATTTTGAGAAATAACATTGATATTTTAGCTATCTAAGGCACAGAAGAGTAATGGCTCTTGTCAACAGTTGTTTCTTGTGCTGAGGTTCTTAAGTCAAAAGTAAAGGCAAGAGGCTATGGTGGGGAGCTCCTAGGCGAAGAGGCTCATTTCATA... |
Task1_train_20804 | 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 | GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGCCTTCTAACCCATCCACCTAGAATACTCACCATTCTTATTCTGACACATCCCTTGGGGAGAATATCTCCCCTTAGGAAAGAAATAATTTTGAGAAATAACATTGATATTTTAGCTATCTAAGGCACAGAAGAGTAATGGCTCTTGTCAACAGTTGTTTCTTGTGCTGAGGTTCTTAAGTCAAAAGTAAAGGCAAGAGGCTATGGTGGGGAGCTCCTAGGCGAAGAGGCTCATTTCATATGCACATATTAGCACTAACTGAAGATTCTGAGGAGAAAACATT... | GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGCCTTCTAACCCATCCACCTAGAATACTCACCATTCTTATTCTGACACATCCCTTGGGGAGAATATCTCCCCTTAGGAAAGAAATAATTTTGAGAAATAACATTGATATTTTAGCTATCTAAGGCACAGAAGAGTAATGGCTCTTGTCAACAGTTGTTTCTTGTGCTGAGGTTCTTAAGTCAAAAGTAAAGGCAAGAGGCTATGGTGGGGAGCTCCTAGGCGAAGAGGCTCATTTCATATGCACATATTAGCACTAACTGAAGATTCTGAGGAGAAAACATT... |
Task1_train_20805 | 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 | GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGCCTTCTAACCCATCCACCTAGAATACTCACCATTCTTATTCTGACACATCCCTTGGGGAGAATATCTCCCCTTAGGAAAGAAATAATTTTGAGAAATAACATTGATATTTTAGCTATCTAAGGCACAGAAGAGTAATGGCTCTTGTCAACAGTTGTTTCTTGTGCTGAGGTTCTTAAGTCAAAAGTAAAGGCAAGAGGCTATGGTGGGGAGCTCCTAGGCGAAGAGGCTCATTTCATATGCACATATTAGCACTAACTGAAGATTCTGAGGAGAAAACATT... | GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGCCTTCTAACCCATCCACCTAGAATACTCACCATTCTTATTCTGACACATCCCTTGGGGAGAATATCTCCCCTTAGGAAAGAAATAATTTTGAGAAATAACATTGATATTTTAGCTATCTAAGGCACAGAAGAGTAATGGCTCTTGTCAACAGTTGTTTCTTGTGCTGAGGTTCTTAAGTCAAAAGTAAAGGCAAGAGGCTATGGTGGGGAGCTCCTAGGCGAAGAGGCTCATTTCATATGCACATATTAGCACTAACTGAAGATTCTGAGGAGAAAACATT... |
Task1_train_20806 | 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 | ATTCTCATTCTCTTTTCCTTTAATAGCTGACTTCGTCCCAGACCCCAGCTCTATCTCCCCCACACCACTCCACCCCGAAAAAAAAAAATCTTGGCATTAGACAGAGACTCAAATGCACGAAGTCTTGAGTCAGTCTAAGTGGCAAATTCTCTTCGTTGAACTTTGCAAGTGGGAGTGGCTCATTTACACCTGTGGTCTTTTGTGCCAGGCTCTGTCCACCTGAGTCCCATGGCATTCGCTTTTTAAAAAACATTATCCACGGTTCTGTGGAATTTTCTCATTTCATGAGCAATAGAAGTCTGACTCCTAATTTGTCATCT... | ATTCTCATTCTCTTTTCCTTTAATAGCTGACTTCGTCCCAGACCCCAGCTCTATCTCCCCCACACCACTCCACCCCGAAAAAAAAAAATCTTGGCATTAGACAGAGACTCAAATGCACGAAGTCTTGAGTCAGTCTAAGTGGCAAATTCTCTTCGTTGAACTTTGCAAGTGGGAGTGGCTCATTTACACCTGTGGTCTTTTGTGCCAGGCTCTGTCCACCTGAGTCCCATGGCATTCGCTTTTTAAAAAACATTATCCACGGTTCTGTGGAATTTTCTCATTTCATGAGCAATAGAAGTCTGACTCCTAATTTGTCATCT... |
Task1_train_20807 | 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 | ATTCTCATTCTCTTTTCCTTTAATAGCTGACTTCGTCCCAGACCCCAGCTCTATCTCCCCCACACCACTCCACCCCGAAAAAAAAAAATCTTGGCATTAGACAGAGACTCAAATGCACGAAGTCTTGAGTCAGTCTAAGTGGCAAATTCTCTTCGTTGAACTTTGCAAGTGGGAGTGGCTCATTTACACCTGTGGTCTTTTGTGCCAGGCTCTGTCCACCTGAGTCCCATGGCATTCGCTTTTTAAAAAACATTATCCACGGTTCTGTGGAATTTTCTCATTTCATGAGCAATAGAAGTCTGACTCCTAATTTGTCATCT... | ATTCTCATTCTCTTTTCCTTTAATAGCTGACTTCGTCCCAGACCCCAGCTCTATCTCCCCCACACCACTCCACCCCGAAAAAAAAAAATCTTGGCATTAGACAGAGACTCAAATGCACGAAGTCTTGAGTCAGTCTAAGTGGCAAATTCTCTTCGTTGAACTTTGCAAGTGGGAGTGGCTCATTTACACCTGTGGTCTTTTGTGCCAGGCTCTGTCCACCTGAGTCCCATGGCATTCGCTTTTTAAAAAACATTATCCACGGTTCTGTGGAATTTTCTCATTTCATGAGCAATAGAAGTCTGACTCCTAATTTGTCATCT... |
Task1_train_20808 | 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 | TTCTCATTCTCTTTTCCTTTAATAGCTGACTTCGTCCCAGACCCCAGCTCTATCTCCCCCACACCACTCCACCCCGAAAAAAAAAAATCTTGGCATTAGACAGAGACTCAAATGCACGAAGTCTTGAGTCAGTCTAAGTGGCAAATTCTCTTCGTTGAACTTTGCAAGTGGGAGTGGCTCATTTACACCTGTGGTCTTTTGTGCCAGGCTCTGTCCACCTGAGTCCCATGGCATTCGCTTTTTAAAAAACATTATCCACGGTTCTGTGGAATTTTCTCATTTCATGAGCAATAGAAGTCTGACTCCTAATTTGTCATCTT... | TTCTCATTCTCTTTTCCTTTAATAGCTGACTTCGTCCCAGACCCCAGCTCTATCTCCCCCACACCACTCCACCCCGAAAAAAAAAAATCTTGGCATTAGACAGAGACTCAAATGCACGAAGTCTTGAGTCAGTCTAAGTGGCAAATTCTCTTCGTTGAACTTTGCAAGTGGGAGTGGCTCATTTACACCTGTGGTCTTTTGTGCCAGGCTCTGTCCACCTGAGTCCCATGGCATTCGCTTTTTAAAAAACATTATCCACGGTTCTGTGGAATTTTCTCATTTCATGAGCAATAGAAGTCTGACTCCTAATTTGTCATCTT... |
Task1_train_20809 | This gene mutation involves FBN1 (fibrillin 1) on Chromosome 15. Is it associated with any clinical condition, or is it benign? | Pathogenic; Marfan syndrome | TTCTCATTCTCTTTTCCTTTAATAGCTGACTTCGTCCCAGACCCCAGCTCTATCTCCCCCACACCACTCCACCCCGAAAAAAAAAAATCTTGGCATTAGACAGAGACTCAAATGCACGAAGTCTTGAGTCAGTCTAAGTGGCAAATTCTCTTCGTTGAACTTTGCAAGTGGGAGTGGCTCATTTACACCTGTGGTCTTTTGTGCCAGGCTCTGTCCACCTGAGTCCCATGGCATTCGCTTTTTAAAAAACATTATCCACGGTTCTGTGGAATTTTCTCATTTCATGAGCAATAGAAGTCTGACTCCTAATTTGTCATCTT... | TTCTCATTCTCTTTTCCTTTAATAGCTGACTTCGTCCCAGACCCCAGCTCTATCTCCCCCACACCACTCCACCCCGAAAAAAAAAAATCTTGGCATTAGACAGAGACTCAAATGCACGAAGTCTTGAGTCAGTCTAAGTGGCAAATTCTCTTCGTTGAACTTTGCAAGTGGGAGTGGCTCATTTACACCTGTGGTCTTTTGTGCCAGGCTCTGTCCACCTGAGTCCCATGGCATTCGCTTTTTAAAAAACATTATCCACGGTTCTGTGGAATTTTCTCATTTCATGAGCAATAGAAGTCTGACTCCTAATTTGTCATCTT... |
Task1_train_20810 | 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 | CAGACCCCAGCTCTATCTCCCCCACACCACTCCACCCCGAAAAAAAAAAATCTTGGCATTAGACAGAGACTCAAATGCACGAAGTCTTGAGTCAGTCTAAGTGGCAAATTCTCTTCGTTGAACTTTGCAAGTGGGAGTGGCTCATTTACACCTGTGGTCTTTTGTGCCAGGCTCTGTCCACCTGAGTCCCATGGCATTCGCTTTTTAAAAAACATTATCCACGGTTCTGTGGAATTTTCTCATTTCATGAGCAATAGAAGTCTGACTCCTAATTTGTCATCTTACAAGAAAAACCCAGCTCTCAATTTCCTGGCTCCAGC... | CAGACCCCAGCTCTATCTCCCCCACACCACTCCACCCCGAAAAAAAAAAATCTTGGCATTAGACAGAGACTCAAATGCACGAAGTCTTGAGTCAGTCTAAGTGGCAAATTCTCTTCGTTGAACTTTGCAAGTGGGAGTGGCTCATTTACACCTGTGGTCTTTTGTGCCAGGCTCTGTCCACCTGAGTCCCATGGCATTCGCTTTTTAAAAAACATTATCCACGGTTCTGTGGAATTTTCTCATTTCATGAGCAATAGAAGTCTGACTCCTAATTTGTCATCTTACAAGAAAAACCCAGCTCTCAATTTCCTGGCTCCAGC... |
Task1_train_20811 | 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; Familial thoracic aortic aneurysm and aortic dissection | CAGACCCCAGCTCTATCTCCCCCACACCACTCCACCCCGAAAAAAAAAAATCTTGGCATTAGACAGAGACTCAAATGCACGAAGTCTTGAGTCAGTCTAAGTGGCAAATTCTCTTCGTTGAACTTTGCAAGTGGGAGTGGCTCATTTACACCTGTGGTCTTTTGTGCCAGGCTCTGTCCACCTGAGTCCCATGGCATTCGCTTTTTAAAAAACATTATCCACGGTTCTGTGGAATTTTCTCATTTCATGAGCAATAGAAGTCTGACTCCTAATTTGTCATCTTACAAGAAAAACCCAGCTCTCAATTTCCTGGCTCCAGC... | CAGACCCCAGCTCTATCTCCCCCACACCACTCCACCCCGAAAAAAAAAAATCTTGGCATTAGACAGAGACTCAAATGCACGAAGTCTTGAGTCAGTCTAAGTGGCAAATTCTCTTCGTTGAACTTTGCAAGTGGGAGTGGCTCATTTACACCTGTGGTCTTTTGTGCCAGGCTCTGTCCACCTGAGTCCCATGGCATTCGCTTTTTAAAAAACATTATCCACGGTTCTGTGGAATTTTCTCATTTCATGAGCAATAGAAGTCTGACTCCTAATTTGTCATCTTACAAGAAAAACCCAGCTCTCAATTTCCTGGCTCCAGC... |
Task1_train_20812 | 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 | CAGACCCCAGCTCTATCTCCCCCACACCACTCCACCCCGAAAAAAAAAAATCTTGGCATTAGACAGAGACTCAAATGCACGAAGTCTTGAGTCAGTCTAAGTGGCAAATTCTCTTCGTTGAACTTTGCAAGTGGGAGTGGCTCATTTACACCTGTGGTCTTTTGTGCCAGGCTCTGTCCACCTGAGTCCCATGGCATTCGCTTTTTAAAAAACATTATCCACGGTTCTGTGGAATTTTCTCATTTCATGAGCAATAGAAGTCTGACTCCTAATTTGTCATCTTACAAGAAAAACCCAGCTCTCAATTTCCTGGCTCCAGC... | CAGACCCCAGCTCTATCTCCCCCACACCACTCCACCCCGAAAAAAAAAAATCTTGGCATTAGACAGAGACTCAAATGCACGAAGTCTTGAGTCAGTCTAAGTGGCAAATTCTCTTCGTTGAACTTTGCAAGTGGGAGTGGCTCATTTACACCTGTGGTCTTTTGTGCCAGGCTCTGTCCACCTGAGTCCCATGGCATTCGCTTTTTAAAAAACATTATCCACGGTTCTGTGGAATTTTCTCATTTCATGAGCAATAGAAGTCTGACTCCTAATTTGTCATCTTACAAGAAAAACCCAGCTCTCAATTTCCTGGCTCCAGC... |
Task1_train_20813 | Given this variant in gene FBN1 (fibrillin 1) on Chromosome 15, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CAGCTCTATCTCCCCCACACCACTCCACCCCGAAAAAAAAAAATCTTGGCATTAGACAGAGACTCAAATGCACGAAGTCTTGAGTCAGTCTAAGTGGCAAATTCTCTTCGTTGAACTTTGCAAGTGGGAGTGGCTCATTTACACCTGTGGTCTTTTGTGCCAGGCTCTGTCCACCTGAGTCCCATGGCATTCGCTTTTTAAAAAACATTATCCACGGTTCTGTGGAATTTTCTCATTTCATGAGCAATAGAAGTCTGACTCCTAATTTGTCATCTTACAAGAAAAACCCAGCTCTCAATTTCCTGGCTCCAGCAAAATCT... | CAGCTCTATCTCCCCCACACCACTCCACCCCGAAAAAAAAAAATCTTGGCATTAGACAGAGACTCAAATGCACGAAGTCTTGAGTCAGTCTAAGTGGCAAATTCTCTTCGTTGAACTTTGCAAGTGGGAGTGGCTCATTTACACCTGTGGTCTTTTGTGCCAGGCTCTGTCCACCTGAGTCCCATGGCATTCGCTTTTTAAAAAACATTATCCACGGTTCTGTGGAATTTTCTCATTTCATGAGCAATAGAAGTCTGACTCCTAATTTGTCATCTTACAAGAAAAACCCAGCTCTCAATTTCCTGGCTCCAGCAAAATCT... |
Task1_train_20814 | This gene mutation involves FBN1 (fibrillin 1) on Chromosome 15. Is it associated with any clinical condition, or is it benign? | Pathogenic; Marfan syndrome | CAGCTCTATCTCCCCCACACCACTCCACCCCGAAAAAAAAAAATCTTGGCATTAGACAGAGACTCAAATGCACGAAGTCTTGAGTCAGTCTAAGTGGCAAATTCTCTTCGTTGAACTTTGCAAGTGGGAGTGGCTCATTTACACCTGTGGTCTTTTGTGCCAGGCTCTGTCCACCTGAGTCCCATGGCATTCGCTTTTTAAAAAACATTATCCACGGTTCTGTGGAATTTTCTCATTTCATGAGCAATAGAAGTCTGACTCCTAATTTGTCATCTTACAAGAAAAACCCAGCTCTCAATTTCCTGGCTCCAGCAAAATCT... | CAGCTCTATCTCCCCCACACCACTCCACCCCGAAAAAAAAAAATCTTGGCATTAGACAGAGACTCAAATGCACGAAGTCTTGAGTCAGTCTAAGTGGCAAATTCTCTTCGTTGAACTTTGCAAGTGGGAGTGGCTCATTTACACCTGTGGTCTTTTGTGCCAGGCTCTGTCCACCTGAGTCCCATGGCATTCGCTTTTTAAAAAACATTATCCACGGTTCTGTGGAATTTTCTCATTTCATGAGCAATAGAAGTCTGACTCCTAATTTGTCATCTTACAAGAAAAACCCAGCTCTCAATTTCCTGGCTCCAGCAAAATCT... |
Task1_train_20815 | 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 | CAGCTCTATCTCCCCCACACCACTCCACCCCGAAAAAAAAAAATCTTGGCATTAGACAGAGACTCAAATGCACGAAGTCTTGAGTCAGTCTAAGTGGCAAATTCTCTTCGTTGAACTTTGCAAGTGGGAGTGGCTCATTTACACCTGTGGTCTTTTGTGCCAGGCTCTGTCCACCTGAGTCCCATGGCATTCGCTTTTTAAAAAACATTATCCACGGTTCTGTGGAATTTTCTCATTTCATGAGCAATAGAAGTCTGACTCCTAATTTGTCATCTTACAAGAAAAACCCAGCTCTCAATTTCCTGGCTCCAGCAAAATCT... | CAGCTCTATCTCCCCCACACCACTCCACCCCGAAAAAAAAAAATCTTGGCATTAGACAGAGACTCAAATGCACGAAGTCTTGAGTCAGTCTAAGTGGCAAATTCTCTTCGTTGAACTTTGCAAGTGGGAGTGGCTCATTTACACCTGTGGTCTTTTGTGCCAGGCTCTGTCCACCTGAGTCCCATGGCATTCGCTTTTTAAAAAACATTATCCACGGTTCTGTGGAATTTTCTCATTTCATGAGCAATAGAAGTCTGACTCCTAATTTGTCATCTTACAAGAAAAACCCAGCTCTCAATTTCCTGGCTCCAGCAAAATCT... |
Task1_train_20816 | A variant affecting Chromosome 15, within the gene FBN1 (fibrillin 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CAGCTCTATCTCCCCCACACCACTCCACCCCGAAAAAAAAAAATCTTGGCATTAGACAGAGACTCAAATGCACGAAGTCTTGAGTCAGTCTAAGTGGCAAATTCTCTTCGTTGAACTTTGCAAGTGGGAGTGGCTCATTTACACCTGTGGTCTTTTGTGCCAGGCTCTGTCCACCTGAGTCCCATGGCATTCGCTTTTTAAAAAACATTATCCACGGTTCTGTGGAATTTTCTCATTTCATGAGCAATAGAAGTCTGACTCCTAATTTGTCATCTTACAAGAAAAACCCAGCTCTCAATTTCCTGGCTCCAGCAAAATCT... | CAGCTCTATCTCCCCCACACCACTCCACCCCGAAAAAAAAAAATCTTGGCATTAGACAGAGACTCAAATGCACGAAGTCTTGAGTCAGTCTAAGTGGCAAATTCTCTTCGTTGAACTTTGCAAGTGGGAGTGGCTCATTTACACCTGTGGTCTTTTGTGCCAGGCTCTGTCCACCTGAGTCCCATGGCATTCGCTTTTTAAAAAACATTATCCACGGTTCTGTGGAATTTTCTCATTTCATGAGCAATAGAAGTCTGACTCCTAATTTGTCATCTTACAAGAAAAACCCAGCTCTCAATTTCCTGGCTCCAGCAAAATCT... |
Task1_train_20817 | The gene FBN1 (fibrillin 1) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Marfan syndrome | TATAGACAATAGGAAACTGTACACTTAGAATTGTGGCATGTTTTCTTTAGTATATTATACATCTTAGCTCCTGTACAGTGGTAGTTAAGAGTAGCCAATAAGAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAG... | TATAGACAATAGGAAACTGTACACTTAGAATTGTGGCATGTTTTCTTTAGTATATTATACATCTTAGCTCCTGTACAGTGGTAGTTAAGAGTAGCCAATAAGAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAG... |
Task1_train_20818 | This variant affects the gene FBN1 (fibrillin 1) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TATAGACAATAGGAAACTGTACACTTAGAATTGTGGCATGTTTTCTTTAGTATATTATACATCTTAGCTCCTGTACAGTGGTAGTTAAGAGTAGCCAATAAGAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAG... | TATAGACAATAGGAAACTGTACACTTAGAATTGTGGCATGTTTTCTTTAGTATATTATACATCTTAGCTCCTGTACAGTGGTAGTTAAGAGTAGCCAATAAGAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAG... |
Task1_train_20819 | 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 | TATAGACAATAGGAAACTGTACACTTAGAATTGTGGCATGTTTTCTTTAGTATATTATACATCTTAGCTCCTGTACAGTGGTAGTTAAGAGTAGCCAATAAGAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAG... | TATAGACAATAGGAAACTGTACACTTAGAATTGTGGCATGTTTTCTTTAGTATATTATACATCTTAGCTCCTGTACAGTGGTAGTTAAGAGTAGCCAATAAGAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAG... |
Task1_train_20820 | 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 | ATGTTTTCTTTAGTATATTATACATCTTAGCTCCTGTACAGTGGTAGTTAAGAGTAGCCAATAAGAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAGTGAACAAAGTGGTAAGTCTTAATTCTGAGCCATGCTA... | ATGTTTTCTTTAGTATATTATACATCTTAGCTCCTGTACAGTGGTAGTTAAGAGTAGCCAATAAGAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAGTGAACAAAGTGGTAAGTCTTAATTCTGAGCCATGCTA... |
Task1_train_20821 | 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 | ATGTTTTCTTTAGTATATTATACATCTTAGCTCCTGTACAGTGGTAGTTAAGAGTAGCCAATAAGAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAGTGAACAAAGTGGTAAGTCTTAATTCTGAGCCATGCTA... | ATGTTTTCTTTAGTATATTATACATCTTAGCTCCTGTACAGTGGTAGTTAAGAGTAGCCAATAAGAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAGTGAACAAAGTGGTAAGTCTTAATTCTGAGCCATGCTA... |
Task1_train_20822 | 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 | TGTACAGTGGTAGTTAAGAGTAGCCAATAAGAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAGTGAACAAAGTGGTAAGTCTTAATTCTGAGCCATGCTACTTTTATGAGAATACTTTTTTATTTTTTCAACAA... | TGTACAGTGGTAGTTAAGAGTAGCCAATAAGAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAGTGAACAAAGTGGTAAGTCTTAATTCTGAGCCATGCTACTTTTATGAGAATACTTTTTTATTTTTTCAACAA... |
Task1_train_20823 | 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 | TGTACAGTGGTAGTTAAGAGTAGCCAATAAGAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAGTGAACAAAGTGGTAAGTCTTAATTCTGAGCCATGCTACTTTTATGAGAATACTTTTTTATTTTTTCAACAA... | TGTACAGTGGTAGTTAAGAGTAGCCAATAAGAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAGTGAACAAAGTGGTAAGTCTTAATTCTGAGCCATGCTACTTTTATGAGAATACTTTTTTATTTTTTCAACAA... |
Task1_train_20824 | 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 | TAGTTAAGAGTAGCCAATAAGAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAGTGAACAAAGTGGTAAGTCTTAATTCTGAGCCATGCTACTTTTATGAGAATACTTTTTTATTTTTTCAACAAAACACAAAAT... | TAGTTAAGAGTAGCCAATAAGAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAGTGAACAAAGTGGTAAGTCTTAATTCTGAGCCATGCTACTTTTATGAGAATACTTTTTTATTTTTTCAACAAAACACAAAAT... |
Task1_train_20825 | 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 | TAGTTAAGAGTAGCCAATAAGAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAGTGAACAAAGTGGTAAGTCTTAATTCTGAGCCATGCTACTTTTATGAGAATACTTTTTTATTTTTTCAACAAAACACAAAAT... | TAGTTAAGAGTAGCCAATAAGAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAGTGAACAAAGTGGTAAGTCTTAATTCTGAGCCATGCTACTTTTATGAGAATACTTTTTTATTTTTTCAACAAAACACAAAAT... |
Task1_train_20826 | 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 | TAGTTAAGAGTAGCCAATAAGAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAGTGAACAAAGTGGTAAGTCTTAATTCTGAGCCATGCTACTTTTATGAGAATACTTTTTTATTTTTTCAACAAAACACAAAAT... | TAGTTAAGAGTAGCCAATAAGAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAGTGAACAAAGTGGTAAGTCTTAATTCTGAGCCATGCTACTTTTATGAGAATACTTTTTTATTTTTTCAACAAAACACAAAAT... |
Task1_train_20827 | 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 | GAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAGTGAACAAAGTGGTAAGTCTTAATTCTGAGCCATGCTACTTTTATGAGAATACTTTTTTATTTTTTCAACAAAACACAAAATATCCTTGTATCCTGGGCTCT... | GAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAGTGAACAAAGTGGTAAGTCTTAATTCTGAGCCATGCTACTTTTATGAGAATACTTTTTTATTTTTTCAACAAAACACAAAATATCCTTGTATCCTGGGCTCT... |
Task1_train_20828 | 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 | GAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAGTGAACAAAGTGGTAAGTCTTAATTCTGAGCCATGCTACTTTTATGAGAATACTTTTTTATTTTTTCAACAAAACACAAAATATCCTTGTATCCTGGGCTCT... | GAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAGTGAACAAAGTGGTAAGTCTTAATTCTGAGCCATGCTACTTTTATGAGAATACTTTTTTATTTTTTCAACAAAACACAAAATATCCTTGTATCCTGGGCTCT... |
Task1_train_20829 | 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 | GAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAGTGAACAAAGTGGTAAGTCTTAATTCTGAGCCATGCTACTTTTATGAGAATACTTTTTTATTTTTTCAACAAAACACAAAATATCCTTGTATCCTGGGCTCT... | GAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAGTGAACAAAGTGGTAAGTCTTAATTCTGAGCCATGCTACTTTTATGAGAATACTTTTTTATTTTTTCAACAAAACACAAAATATCCTTGTATCCTGGGCTCT... |
Task1_train_20830 | 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; not provided | GGATAGGGCCAAATATTGTAGAATGGGCACATTCATTGACTGTGCAGTTATTTTTCTTTCTATATATATTCTGTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTC... | GGATAGGGCCAAATATTGTAGAATGGGCACATTCATTGACTGTGCAGTTATTTTTCTTTCTATATATATTCTGTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTC... |
Task1_train_20831 | 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 | ATTGACTGTGCAGTTATTTTTCTTTCTATATATATTCTGTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTCTTGAAAATCCTTTCAACCCTACTTATTTATGAAA... | ATTGACTGTGCAGTTATTTTTCTTTCTATATATATTCTGTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTCTTGAAAATCCTTTCAACCCTACTTATTTATGAAA... |
Task1_train_20832 | 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 | ATTGACTGTGCAGTTATTTTTCTTTCTATATATATTCTGTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTCTTGAAAATCCTTTCAACCCTACTTATTTATGAAA... | ATTGACTGTGCAGTTATTTTTCTTTCTATATATATTCTGTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTCTTGAAAATCCTTTCAACCCTACTTATTTATGAAA... |
Task1_train_20833 | 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 | ATTGACTGTGCAGTTATTTTTCTTTCTATATATATTCTGTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTCTTGAAAATCCTTTCAACCCTACTTATTTATGAAA... | ATTGACTGTGCAGTTATTTTTCTTTCTATATATATTCTGTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTCTTGAAAATCCTTTCAACCCTACTTATTTATGAAA... |
Task1_train_20834 | 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 | ATTGACTGTGCAGTTATTTTTCTTTCTATATATATTCTGTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTCTTGAAAATCCTTTCAACCCTACTTATTTATGAAA... | ATTGACTGTGCAGTTATTTTTCTTTCTATATATATTCTGTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTCTTGAAAATCCTTTCAACCCTACTTATTTATGAAA... |
Task1_train_20835 | 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 | TATTTTTCTTTCTATATATATTCTGTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTCTTGAAAATCCTTTCAACCCTACTTATTTATGAAATTCTAGCAATTAAT... | TATTTTTCTTTCTATATATATTCTGTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTCTTGAAAATCCTTTCAACCCTACTTATTTATGAAATTCTAGCAATTAAT... |
Task1_train_20836 | 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 | TGTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTCTTGAAAATCCTTTCAACCCTACTTATTTATGAAATTCTAGCAATTAATGTCCTTCACTTAATGATATGACA... | TGTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTCTTGAAAATCCTTTCAACCCTACTTATTTATGAAATTCTAGCAATTAATGTCCTTCACTTAATGATATGACA... |
Task1_train_20837 | 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 | TGTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTCTTGAAAATCCTTTCAACCCTACTTATTTATGAAATTCTAGCAATTAATGTCCTTCACTTAATGATATGACA... | TGTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTCTTGAAAATCCTTTCAACCCTACTTATTTATGAAATTCTAGCAATTAATGTCCTTCACTTAATGATATGACA... |
Task1_train_20838 | 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 | GTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTCTTGAAAATCCTTTCAACCCTACTTATTTATGAAATTCTAGCAATTAATGTCCTTCACTTAATGATATGACAT... | GTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTCTTGAAAATCCTTTCAACCCTACTTATTTATGAAATTCTAGCAATTAATGTCCTTCACTTAATGATATGACAT... |
Task1_train_20839 | 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 | GTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTCTTGAAAATCCTTTCAACCCTACTTATTTATGAAATTCTAGCAATTAATGTCCTTCACTTAATGATATGACAT... | GTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTCTTGAAAATCCTTTCAACCCTACTTATTTATGAAATTCTAGCAATTAATGTCCTTCACTTAATGATATGACAT... |
Task1_train_20840 | 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 | GTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTCTTGAAAATCCTTTCAACCCTACTTATTTATGAAATTCTAGCAATTAATGTCCTTCACTTAATGATATGACAT... | GTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTCTTGAAAATCCTTTCAACCCTACTTATTTATGAAATTCTAGCAATTAATGTCCTTCACTTAATGATATGACAT... |
Task1_train_20841 | 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 | GTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTCTTGAAAATCCTTTCAACCCTACTTATTTATGAAATTCTAGCAATTAATGTCCTTCACTTAATGATATGACAT... | GTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTCTTGAAAATCCTTTCAACCCTACTTATTTATGAAATTCTAGCAATTAATGTCCTTCACTTAATGATATGACAT... |
Task1_train_20842 | 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 | TTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTCTTGAAAATCCTTTCAACCCTACTTATTTATGAAATTCTAGCAATTAATGTCCTTCACTTAATGATATGACATA... | TTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTCTTGAAAATCCTTTCAACCCTACTTATTTATGAAATTCTAGCAATTAATGTCCTTCACTTAATGATATGACATA... |
Task1_train_20843 | 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 | TATCTGCAAAGAAAAGGGAAAAATAAGGAAGAGGTTCCCACTGGCATGACTTCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATT... | TATCTGCAAAGAAAAGGGAAAAATAAGGAAGAGGTTCCCACTGGCATGACTTCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATT... |
Task1_train_20844 | The gene FBN1 (fibrillin 1) on Chromosome 15 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TATCTGCAAAGAAAAGGGAAAAATAAGGAAGAGGTTCCCACTGGCATGACTTCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATT... | TATCTGCAAAGAAAAGGGAAAAATAAGGAAGAGGTTCCCACTGGCATGACTTCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATT... |
Task1_train_20845 | 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 | GCAAAGAAAAGGGAAAAATAAGGAAGAGGTTCCCACTGGCATGACTTCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAA... | GCAAAGAAAAGGGAAAAATAAGGAAGAGGTTCCCACTGGCATGACTTCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAA... |
Task1_train_20846 | 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 | GCAAAGAAAAGGGAAAAATAAGGAAGAGGTTCCCACTGGCATGACTTCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAA... | GCAAAGAAAAGGGAAAAATAAGGAAGAGGTTCCCACTGGCATGACTTCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAA... |
Task1_train_20847 | 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 | GCAAAGAAAAGGGAAAAATAAGGAAGAGGTTCCCACTGGCATGACTTCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAA... | GCAAAGAAAAGGGAAAAATAAGGAAGAGGTTCCCACTGGCATGACTTCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAA... |
Task1_train_20848 | 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 | GCAAAGAAAAGGGAAAAATAAGGAAGAGGTTCCCACTGGCATGACTTCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAA... | GCAAAGAAAAGGGAAAAATAAGGAAGAGGTTCCCACTGGCATGACTTCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAA... |
Task1_train_20849 | 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 | GCAAAGAAAAGGGAAAAATAAGGAAGAGGTTCCCACTGGCATGACTTCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAA... | GCAAAGAAAAGGGAAAAATAAGGAAGAGGTTCCCACTGGCATGACTTCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAA... |
Task1_train_20850 | 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 | CAAAGAAAAGGGAAAAATAAGGAAGAGGTTCCCACTGGCATGACTTCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAAG... | CAAAGAAAAGGGAAAAATAAGGAAGAGGTTCCCACTGGCATGACTTCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAAG... |
Task1_train_20851 | 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 | CAAAGAAAAGGGAAAAATAAGGAAGAGGTTCCCACTGGCATGACTTCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAAG... | CAAAGAAAAGGGAAAAATAAGGAAGAGGTTCCCACTGGCATGACTTCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAAG... |
Task1_train_20852 | 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 | CAAAGAAAAGGGAAAAATAAGGAAGAGGTTCCCACTGGCATGACTTCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAAG... | CAAAGAAAAGGGAAAAATAAGGAAGAGGTTCCCACTGGCATGACTTCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAAG... |
Task1_train_20853 | 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 | GGCATGACTTCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAAGAAAAATATTTAAGAAGGGAAATCACAATTGCTTACA... | GGCATGACTTCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAAGAAAAATATTTAAGAAGGGAAATCACAATTGCTTACA... |
Task1_train_20854 | A mutation on Chromosome 15 affecting FBN1 (fibrillin 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GGCATGACTTCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAAGAAAAATATTTAAGAAGGGAAATCACAATTGCTTACA... | GGCATGACTTCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAAGAAAAATATTTAAGAAGGGAAATCACAATTGCTTACA... |
Task1_train_20855 | 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; not provided | GGCATGACTTCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAAGAAAAATATTTAAGAAGGGAAATCACAATTGCTTACA... | GGCATGACTTCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAAGAAAAATATTTAAGAAGGGAAATCACAATTGCTTACA... |
Task1_train_20856 | 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 | TCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAAGAAAAATATTTAAGAAGGGAAATCACAATTGCTTACAGAGCAATTTAGCAATTTCACTGTTTAATAGTTTGAGTATTCTTGGTG... | TCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAAGAAAAATATTTAAGAAGGGAAATCACAATTGCTTACAGAGCAATTTAGCAATTTCACTGTTTAATAGTTTGAGTATTCTTGGTG... |
Task1_train_20857 | 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 | TCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAAGAAAAATATTTAAGAAGGGAAATCACAATTGCTTACAGAGCAATTTAGCAATTTCACTGTTTAATAGTTTGAGTATTCTTGGTG... | TCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAAGAAAAATATTTAAGAAGGGAAATCACAATTGCTTACAGAGCAATTTAGCAATTTCACTGTTTAATAGTTTGAGTATTCTTGGTG... |
Task1_train_20858 | This variant impacts the gene FBN1 (fibrillin 1) on Chromosome 15. Is the change likely to result in a pathogenic outcome? | Pathogenic; Marfan syndrome | TCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAAGAAAAATATTTAAGAAGGGAAATCACAATTGCTTACAGAGCAATTTAGCAATTTCACTGTTTAATAGTTTGAGTATTCTTGGTG... | TCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAAGAAAAATATTTAAGAAGGGAAATCACAATTGCTTACAGAGCAATTTAGCAATTTCACTGTTTAATAGTTTGAGTATTCTTGGTG... |
Task1_train_20859 | Consider this mutation in FBN1 (fibrillin 1) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; Marfan syndrome | GAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCACAGGCATCTCTTTCACATTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTG... | GAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCACAGGCATCTCTTTCACATTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTG... |
Task1_train_20860 | 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 | GAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCACAGGCATCTCTTTCACATTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTG... | GAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCACAGGCATCTCTTTCACATTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTG... |
Task1_train_20861 | 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 | AGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCACAGGCATCTCTTTCACATTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGA... | AGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCACAGGCATCTCTTTCACATTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGA... |
Task1_train_20862 | 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 | AGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCACAGGCATCTCTTTCACATTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGA... | AGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCACAGGCATCTCTTTCACATTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGA... |
Task1_train_20863 | 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 | GTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCACAGGCATCTCTTTCACATTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGA... | GTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCACAGGCATCTCTTTCACATTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGA... |
Task1_train_20864 | 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 | ACCAATTGTGTTCCGGCAAGTTCCATTCCCACAGGCATCTCTTTCACATTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATT... | ACCAATTGTGTTCCGGCAAGTTCCATTCCCACAGGCATCTCTTTCACATTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATT... |
Task1_train_20865 | This variant affects gene FBN1 (fibrillin 1) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Marfan syndrome | ACCAATTGTGTTCCGGCAAGTTCCATTCCCACAGGCATCTCTTTCACATTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATT... | ACCAATTGTGTTCCGGCAAGTTCCATTCCCACAGGCATCTCTTTCACATTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATT... |
Task1_train_20866 | 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 | ACCAATTGTGTTCCGGCAAGTTCCATTCCCACAGGCATCTCTTTCACATTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATT... | ACCAATTGTGTTCCGGCAAGTTCCATTCCCACAGGCATCTCTTTCACATTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATT... |
Task1_train_20867 | 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 | GCATCTCTTTCACATTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCC... | GCATCTCTTTCACATTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCC... |
Task1_train_20868 | 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 | GCATCTCTTTCACATTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCC... | GCATCTCTTTCACATTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCC... |
Task1_train_20869 | 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 | TTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTC... | TTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTC... |
Task1_train_20870 | 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 | TTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTC... | TTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTC... |
Task1_train_20871 | The gene FBN1 (fibrillin 1), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Ectopia lentis 1, isolated, autosomal dominant | TTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTC... | TTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTC... |
Task1_train_20872 | 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 | TTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTC... | TTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTC... |
Task1_train_20873 | 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; MASS syndrome | TTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTC... | TTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTC... |
Task1_train_20874 | 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; Stiff skin syndrome | TTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTC... | TTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTC... |
Task1_train_20875 | A genomic change on Chromosome 15 affects FBN1 (fibrillin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Weill-Marchesani syndrome 2, dominant | TTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTC... | TTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTC... |
Task1_train_20876 | 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; Acromicric dysplasia | TTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTC... | TTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTC... |
Task1_train_20877 | 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 | TTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTC... | TTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTC... |
Task1_train_20878 | Consider this mutation in FBN1 (fibrillin 1) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; Progeroid and marfanoid aspect-lipodystrophy syndrome | TTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTC... | TTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTC... |
Task1_train_20879 | This variant affects gene FBN1 (fibrillin 1) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Marfan syndrome | AGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTCAAATATTTTCACTTGAAAAT... | AGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTCAAATATTTTCACTTGAAAAT... |
Task1_train_20880 | The gene FBN1 (fibrillin 1) on Chromosome 15 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTCAAATATTTTCACTTGAAAAT... | AGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTCAAATATTTTCACTTGAAAAT... |
Task1_train_20881 | 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 | GAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTCAAATATTTTCACTTGAAAATG... | GAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTCAAATATTTTCACTTGAAAATG... |
Task1_train_20882 | 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 | GAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTCAAATATTTTCACTTGAAAATG... | GAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTCAAATATTTTCACTTGAAAATG... |
Task1_train_20883 | 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 | AAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTCAAATATTTTCACTTGAAAATGG... | AAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTCAAATATTTTCACTTGAAAATGG... |
Task1_train_20884 | 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 | AAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTCAAATATTTTCACTTGAAAATGG... | AAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTCAAATATTTTCACTTGAAAATGG... |
Task1_train_20885 | A mutation on Chromosome 15 affecting FBN1 (fibrillin 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTCAAATATTTTCACTTGAAAATGG... | AAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTCAAATATTTTCACTTGAAAATGG... |
Task1_train_20886 | 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 | AAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTCAAATATTTTCACTTGAAAATGG... | AAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTCAAATATTTTCACTTGAAAATGG... |
Task1_train_20887 | 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 | AGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTCAAATATTTTCACTTGAAAATGGAA... | AGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTCAAATATTTTCACTTGAAAATGGAA... |
Task1_train_20888 | A variant affecting Chromosome 15, within the gene FBN1 (fibrillin 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTCAAATATTTTCACTTGAAAATGGAA... | AGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCACCCTTGCCACTTTTCTCAAATATTTTCACTTGAAAATGGAA... |
Task1_train_20889 | 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 | AAAGAGAGGAAACCACAAGGAAGTAGCTGGGAAGAAACTGTTCCTTGTCTTTTGTGGGGCAAGACATTTCAGAAGGGGGTTGCATTTGTTCTAACTATCCAGCTTCTGCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTATTTTCATTTTAAACAGATGCACAAAGGAGTACTTTGCAGCATGCCTGAAAAAAAAAAT... | AAAGAGAGGAAACCACAAGGAAGTAGCTGGGAAGAAACTGTTCCTTGTCTTTTGTGGGGCAAGACATTTCAGAAGGGGGTTGCATTTGTTCTAACTATCCAGCTTCTGCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTATTTTCATTTTAAACAGATGCACAAAGGAGTACTTTGCAGCATGCCTGAAAAAAAAAAT... |
Task1_train_20890 | 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 | AAAGAGAGGAAACCACAAGGAAGTAGCTGGGAAGAAACTGTTCCTTGTCTTTTGTGGGGCAAGACATTTCAGAAGGGGGTTGCATTTGTTCTAACTATCCAGCTTCTGCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTATTTTCATTTTAAACAGATGCACAAAGGAGTACTTTGCAGCATGCCTGAAAAAAAAAAT... | AAAGAGAGGAAACCACAAGGAAGTAGCTGGGAAGAAACTGTTCCTTGTCTTTTGTGGGGCAAGACATTTCAGAAGGGGGTTGCATTTGTTCTAACTATCCAGCTTCTGCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTATTTTCATTTTAAACAGATGCACAAAGGAGTACTTTGCAGCATGCCTGAAAAAAAAAAT... |
Task1_train_20891 | 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 | AAAGAGAGGAAACCACAAGGAAGTAGCTGGGAAGAAACTGTTCCTTGTCTTTTGTGGGGCAAGACATTTCAGAAGGGGGTTGCATTTGTTCTAACTATCCAGCTTCTGCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTATTTTCATTTTAAACAGATGCACAAAGGAGTACTTTGCAGCATGCCTGAAAAAAAAAAT... | AAAGAGAGGAAACCACAAGGAAGTAGCTGGGAAGAAACTGTTCCTTGTCTTTTGTGGGGCAAGACATTTCAGAAGGGGGTTGCATTTGTTCTAACTATCCAGCTTCTGCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTATTTTCATTTTAAACAGATGCACAAAGGAGTACTTTGCAGCATGCCTGAAAAAAAAAAT... |
Task1_train_20892 | A variant affecting Chromosome 15, within the gene FBN1 (fibrillin 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AAAGAGAGGAAACCACAAGGAAGTAGCTGGGAAGAAACTGTTCCTTGTCTTTTGTGGGGCAAGACATTTCAGAAGGGGGTTGCATTTGTTCTAACTATCCAGCTTCTGCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTATTTTCATTTTAAACAGATGCACAAAGGAGTACTTTGCAGCATGCCTGAAAAAAAAAAT... | AAAGAGAGGAAACCACAAGGAAGTAGCTGGGAAGAAACTGTTCCTTGTCTTTTGTGGGGCAAGACATTTCAGAAGGGGGTTGCATTTGTTCTAACTATCCAGCTTCTGCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTATTTTCATTTTAAACAGATGCACAAAGGAGTACTTTGCAGCATGCCTGAAAAAAAAAAT... |
Task1_train_20893 | 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 | AGAAACTGTTCCTTGTCTTTTGTGGGGCAAGACATTTCAGAAGGGGGTTGCATTTGTTCTAACTATCCAGCTTCTGCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTATTTTCATTTTAAACAGATGCACAAAGGAGTACTTTGCAGCATGCCTGAAAAAAAAAATGCCAAGTATAGAATAGCATTTAAAGATATTTT... | AGAAACTGTTCCTTGTCTTTTGTGGGGCAAGACATTTCAGAAGGGGGTTGCATTTGTTCTAACTATCCAGCTTCTGCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTATTTTCATTTTAAACAGATGCACAAAGGAGTACTTTGCAGCATGCCTGAAAAAAAAAATGCCAAGTATAGAATAGCATTTAAAGATATTTT... |
Task1_train_20894 | 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 | AGAAACTGTTCCTTGTCTTTTGTGGGGCAAGACATTTCAGAAGGGGGTTGCATTTGTTCTAACTATCCAGCTTCTGCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTATTTTCATTTTAAACAGATGCACAAAGGAGTACTTTGCAGCATGCCTGAAAAAAAAAATGCCAAGTATAGAATAGCATTTAAAGATATTTT... | AGAAACTGTTCCTTGTCTTTTGTGGGGCAAGACATTTCAGAAGGGGGTTGCATTTGTTCTAACTATCCAGCTTCTGCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTATTTTCATTTTAAACAGATGCACAAAGGAGTACTTTGCAGCATGCCTGAAAAAAAAAATGCCAAGTATAGAATAGCATTTAAAGATATTTT... |
Task1_train_20895 | 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 | AGAAACTGTTCCTTGTCTTTTGTGGGGCAAGACATTTCAGAAGGGGGTTGCATTTGTTCTAACTATCCAGCTTCTGCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTATTTTCATTTTAAACAGATGCACAAAGGAGTACTTTGCAGCATGCCTGAAAAAAAAAATGCCAAGTATAGAATAGCATTTAAAGATATTTT... | AGAAACTGTTCCTTGTCTTTTGTGGGGCAAGACATTTCAGAAGGGGGTTGCATTTGTTCTAACTATCCAGCTTCTGCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTATTTTCATTTTAAACAGATGCACAAAGGAGTACTTTGCAGCATGCCTGAAAAAAAAAATGCCAAGTATAGAATAGCATTTAAAGATATTTT... |
Task1_train_20896 | 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 | TTTGTGGGGCAAGACATTTCAGAAGGGGGTTGCATTTGTTCTAACTATCCAGCTTCTGCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTATTTTCATTTTAAACAGATGCACAAAGGAGTACTTTGCAGCATGCCTGAAAAAAAAAATGCCAAGTATAGAATAGCATTTAAAGATATTTTAAAAGTAAGACATAAATA... | TTTGTGGGGCAAGACATTTCAGAAGGGGGTTGCATTTGTTCTAACTATCCAGCTTCTGCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTATTTTCATTTTAAACAGATGCACAAAGGAGTACTTTGCAGCATGCCTGAAAAAAAAAATGCCAAGTATAGAATAGCATTTAAAGATATTTTAAAAGTAAGACATAAATA... |
Task1_train_20897 | The gene FBN1 (fibrillin 1) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Marfan syndrome | TTTGTGGGGCAAGACATTTCAGAAGGGGGTTGCATTTGTTCTAACTATCCAGCTTCTGCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTATTTTCATTTTAAACAGATGCACAAAGGAGTACTTTGCAGCATGCCTGAAAAAAAAAATGCCAAGTATAGAATAGCATTTAAAGATATTTTAAAAGTAAGACATAAATA... | TTTGTGGGGCAAGACATTTCAGAAGGGGGTTGCATTTGTTCTAACTATCCAGCTTCTGCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTATTTTCATTTTAAACAGATGCACAAAGGAGTACTTTGCAGCATGCCTGAAAAAAAAAATGCCAAGTATAGAATAGCATTTAAAGATATTTTAAAAGTAAGACATAAATA... |
Task1_train_20898 | 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 | TTTGTGGGGCAAGACATTTCAGAAGGGGGTTGCATTTGTTCTAACTATCCAGCTTCTGCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTATTTTCATTTTAAACAGATGCACAAAGGAGTACTTTGCAGCATGCCTGAAAAAAAAAATGCCAAGTATAGAATAGCATTTAAAGATATTTTAAAAGTAAGACATAAATA... | TTTGTGGGGCAAGACATTTCAGAAGGGGGTTGCATTTGTTCTAACTATCCAGCTTCTGCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTATTTTCATTTTAAACAGATGCACAAAGGAGTACTTTGCAGCATGCCTGAAAAAAAAAATGCCAAGTATAGAATAGCATTTAAAGATATTTTAAAAGTAAGACATAAATA... |
Task1_train_20899 | 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/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections | CAGAAGGGGGTTGCATTTGTTCTAACTATCCAGCTTCTGCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTATTTTCATTTTAAACAGATGCACAAAGGAGTACTTTGCAGCATGCCTGAAAAAAAAAATGCCAAGTATAGAATAGCATTTAAAGATATTTTAAAAGTAAGACATAAATAAAGACATTTCTAGAATGAG... | CAGAAGGGGGTTGCATTTGTTCTAACTATCCAGCTTCTGCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTATTTTCATTTTAAACAGATGCACAAAGGAGTACTTTGCAGCATGCCTGAAAAAAAAAATGCCAAGTATAGAATAGCATTTAAAGATATTTTAAAAGTAAGACATAAATAAAGACATTTCTAGAATGAG... |
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