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_20600 | Mutation context: Chromosome 15, Gene CAPN3 (calpain 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4 | CTATCTGGGGCCTCATGCAGTGGGGCCTAGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCAC... | CTATCTGGGGCCTCATGCAGTGGGGCCTAGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCAC... |
Task1_train_20601 | Here is a variant affecting CAPN3 (calpain 3) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | CTATCTGGGGCCTCATGCAGTGGGGCCTAGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCAC... | CTATCTGGGGCCTCATGCAGTGGGGCCTAGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCAC... |
Task1_train_20602 | Consider this mutation in CAPN3 (calpain 3) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4 | GAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCCGTTTTAGGCACTTGGCTCCCTTGG... | GAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCCGTTTTAGGCACTTGGCTCCCTTGG... |
Task1_train_20603 | Located on Chromosome 15, this mutation impacts CAPN3 (calpain 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | GAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCCGTTTTAGGCACTTGGCTCCCTTGG... | GAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCCGTTTTAGGCACTTGGCTCCCTTGG... |
Task1_train_20604 | Here is a variant affecting CAPN3 (calpain 3) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4 | GAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCCGTTTTAGGCACTTGGCTCCCTTGG... | GAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCCGTTTTAGGCACTTGGCTCCCTTGG... |
Task1_train_20605 | Gene CAPN3 (calpain 3), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | GAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCCGTTTTAGGCACTTGGCTCCCTTGG... | GAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCCGTTTTAGGCACTTGGCTCCCTTGG... |
Task1_train_20606 | This gene mutation involves CAPN3 (calpain 3) on Chromosome 15. Is it associated with any clinical condition, or is it benign? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy | GGCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTTCTCTCCTGGATTAACTGCTCAGATTACCAATTATTTCATTATTGTTTGGTAGAGGTCACTTTGGACTTTGGTGGAGCCAGGGGATGTGTGCGTAGCACACAAATCCACAAGCCCTTGAGTTTTGGACTGCCACGTCTGCTGGGGGGCTC... | GGCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTTCTCTCCTGGATTAACTGCTCAGATTACCAATTATTTCATTATTGTTTGGTAGAGGTCACTTTGGACTTTGGTGGAGCCAGGGGATGTGTGCGTAGCACACAAATCCACAAGCCCTTGAGTTTTGGACTGCCACGTCTGCTGGGGGGCTC... |
Task1_train_20607 | The gene CAPN3 (calpain 3) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | GGCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTTCTCTCCTGGATTAACTGCTCAGATTACCAATTATTTCATTATTGTTTGGTAGAGGTCACTTTGGACTTTGGTGGAGCCAGGGGATGTGTGCGTAGCACACAAATCCACAAGCCCTTGAGTTTTGGACTGCCACGTCTGCTGGGGGGCTC... | GGCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTTCTCTCCTGGATTAACTGCTCAGATTACCAATTATTTCATTATTGTTTGGTAGAGGTCACTTTGGACTTTGGTGGAGCCAGGGGATGTGTGCGTAGCACACAAATCCACAAGCCCTTGAGTTTTGGACTGCCACGTCTGCTGGGGGGCTC... |
Task1_train_20608 | A variant was discovered on Chromosome 15, affecting CAPN3 (calpain 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4 | GGCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTTCTCTCCTGGATTAACTGCTCAGATTACCAATTATTTCATTATTGTTTGGTAGAGGTCACTTTGGACTTTGGTGGAGCCAGGGGATGTGTGCGTAGCACACAAATCCACAAGCCCTTGAGTTTTGGACTGCCACGTCTGCTGGGGGGCTC... | GGCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTTCTCTCCTGGATTAACTGCTCAGATTACCAATTATTTCATTATTGTTTGGTAGAGGTCACTTTGGACTTTGGTGGAGCCAGGGGATGTGTGCGTAGCACACAAATCCACAAGCCCTTGAGTTTTGGACTGCCACGTCTGCTGGGGGGCTC... |
Task1_train_20609 | Consider this mutation in CAPN3 (calpain 3) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | GGCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTTCTCTCCTGGATTAACTGCTCAGATTACCAATTATTTCATTATTGTTTGGTAGAGGTCACTTTGGACTTTGGTGGAGCCAGGGGATGTGTGCGTAGCACACAAATCCACAAGCCCTTGAGTTTTGGACTGCCACGTCTGCTGGGGGGCTC... | GGCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTTCTCTCCTGGATTAACTGCTCAGATTACCAATTATTTCATTATTGTTTGGTAGAGGTCACTTTGGACTTTGGTGGAGCCAGGGGATGTGTGCGTAGCACACAAATCCACAAGCCCTTGAGTTTTGGACTGCCACGTCTGCTGGGGGGCTC... |
Task1_train_20610 | A mutation in CAPN3 (calpain 3), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4 | GGCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTTCTCTCCTGGATTAACTGCTCAGATTACCAATTATTTCATTATTGTTTGGTAGAGGTCACTTTGGACTTTGGTGGAGCCAGGGGATGTGTGCGTAGCACACAAATCCACAAGCCCTTGAGTTTTGGACTGCCACGTCTGCTGGGGGGCTC... | GGCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTTCTCTCCTGGATTAACTGCTCAGATTACCAATTATTTCATTATTGTTTGGTAGAGGTCACTTTGGACTTTGGTGGAGCCAGGGGATGTGTGCGTAGCACACAAATCCACAAGCCCTTGAGTTTTGGACTGCCACGTCTGCTGGGGGGCTC... |
Task1_train_20611 | Chromosome 15 houses a mutation in gene CDAN1 (codanin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Congenital dyserythropoietic anemia, type I | CCCAACTATGCAACTCTGCTGTTCAGTAGTTGCACAAAAGCAGCCATAGGCAGCTCGTACACAAATTAATATGGCTGCATTCCACTAAAACTTCACTCACAAAACAAGGGGCTGGCTCGCTTCAGTCCATGGGCTGTTTCTTGACTCCTGCTCTAGAGAGTCTTTGAGTTTTAAAATAAAGTTAGGAGAACTGATGGTTTATTCTTACTGCCTGTAACTAAACAAGCATCACCTCCCACATAGAACATTTCTGAAATTGTCTCCAAATACTGGGGCGACTGCCTCCTAGAGACTCATTTGCTATCAAGCCATTCACCACC... | CCCAACTATGCAACTCTGCTGTTCAGTAGTTGCACAAAAGCAGCCATAGGCAGCTCGTACACAAATTAATATGGCTGCATTCCACTAAAACTTCACTCACAAAACAAGGGGCTGGCTCGCTTCAGTCCATGGGCTGTTTCTTGACTCCTGCTCTAGAGAGTCTTTGAGTTTTAAAATAAAGTTAGGAGAACTGATGGTTTATTCTTACTGCCTGTAACTAAACAAGCATCACCTCCCACATAGAACATTTCTGAAATTGTCTCCAAATACTGGGGCGACTGCCTCCTAGAGACTCATTTGCTATCAAGCCATTCACCACC... |
Task1_train_20612 | This mutation occurs in CDAN1 (codanin 1) on Chromosome 15. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Anemia, congenital dyserythropoietic, type 1a | ACCAGCGCTGCTTACTCCCGCCCCAGGGCCAATGCCTGGGCCCCGTGAGGGCACAGCTGGGAACACAAGATCTCCAACAGCTGGGCTGGGTCTCCCCCTTCCTCTCCCTGTGTCACCAGCTGCTCTTGGAGAAGTGACTCTGCCTGGCGCACCAGATCTGCCACCAGTGTAGCCCTGCAGCAGGGACAGCAAGGTTGGGGATGGTTGGAGGGTTAATCGGAAAGAGGCTGAAAATTTATGGGAATTTGGTCAGAAATTTGCTTCAAAATGTGTCAGCCATTTCAGCCCCACACCCACCCTCTGGCTGACCTTCTCAGTTT... | ACCAGCGCTGCTTACTCCCGCCCCAGGGCCAATGCCTGGGCCCCGTGAGGGCACAGCTGGGAACACAAGATCTCCAACAGCTGGGCTGGGTCTCCCCCTTCCTCTCCCTGTGTCACCAGCTGCTCTTGGAGAAGTGACTCTGCCTGGCGCACCAGATCTGCCACCAGTGTAGCCCTGCAGCAGGGACAGCAAGGTTGGGGATGGTTGGAGGGTTAATCGGAAAGAGGCTGAAAATTTATGGGAATTTGGTCAGAAATTTGCTTCAAAATGTGTCAGCCATTTCAGCCCCACACCCACCCTCTGGCTGACCTTCTCAGTTT... |
Task1_train_20613 | This sequence variant lies in CDAN1 (codanin 1) on Chromosome 15. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Anemia, congenital dyserythropoietic, type 1a | ACCTGCAGCCCCTGGCTGGTCTGGGAAGGCTGGGCTCCCAGGCTGGTGGTAGTGGTGGGGGTGATTTTCCTCATGAAGCCCCCACTCCGTCCACTACTGCCTGACACCCACGAAGCGAGCAGTTTCCGGAGCTCTCCTGTATCAGTGAAGTCCAAGTTCTCAGTTCCAGAACCCTCTCCCCTCCCTAAGTATCATGGACTTTACTTGTGGAGTCAAGAGGCTCAGATACCCAGGAATGACTATGAACGGAGCAATATCCAAGGGAGCTGGGCCAAGGGGGTGCCTTTTGGGTACTCATGGAGGGACAGACCAAGGACCGT... | ACCTGCAGCCCCTGGCTGGTCTGGGAAGGCTGGGCTCCCAGGCTGGTGGTAGTGGTGGGGGTGATTTTCCTCATGAAGCCCCCACTCCGTCCACTACTGCCTGACACCCACGAAGCGAGCAGTTTCCGGAGCTCTCCTGTATCAGTGAAGTCCAAGTTCTCAGTTCCAGAACCCTCTCCCCTCCCTAAGTATCATGGACTTTACTTGTGGAGTCAAGAGGCTCAGATACCCAGGAATGACTATGAACGGAGCAATATCCAAGGGAGCTGGGCCAAGGGGGTGCCTTTTGGGTACTCATGGAGGGACAGACCAAGGACCGT... |
Task1_train_20614 | This variant lies on Chromosome 15 and affects the gene UBR1 (ubiquitin protein ligase E3 component n-recognin 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Johanson-Blizzard syndrome | CACCTACTGAAGGACATCTTGGTTGCTTCCAAGTTTTGGGAAATATGAAGAAAGCTGCTATAAAACATTCACTGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCAATTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCTTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGCATGGTGGTACACATCTGTAATCCCAGCTACCTGGGAGGCTGAGGCAAGAGAAATGCATGAACACAGGAGGTGGAGGTTACAGTGAACCAAGATTGTGCCACTGCACTC... | CACCTACTGAAGGACATCTTGGTTGCTTCCAAGTTTTGGGAAATATGAAGAAAGCTGCTATAAAACATTCACTGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCAATTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCTTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGCATGGTGGTACACATCTGTAATCCCAGCTACCTGGGAGGCTGAGGCAAGAGAAATGCATGAACACAGGAGGTGGAGGTTACAGTGAACCAAGATTGTGCCACTGCACTC... |
Task1_train_20615 | A variant affecting Chromosome 15, within the gene EPB42 (erythrocyte membrane protein band 4.2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hereditary spherocytosis type 5 | CTGCTCAAATGCCAAAGTCACAAGAACTCAGCAAGCCTCTAAGGCCATATTTAGCCCAAAAATGTCTGTGTCAGGCAGCTCCACCACCGATACAGTGTGTCTCTTCCAAACCACTCAAGGACCAAGTTCTTTTTCAAGTGCTATGAATTCTCCCCTTGAATGATGAGAGAGCAAGGTTGGGGACAAGTCAACACTGTCTCTGAGGACAGTTTTGCAGGGAACTGAATTTTCCTATGTGAAAGAATTTAGACTTCCTCTGAGGGTCAGGAATGCTGCTAAATGTCCTAGGGTGCACAGCCTGTACAACAAAGACATATCTG... | CTGCTCAAATGCCAAAGTCACAAGAACTCAGCAAGCCTCTAAGGCCATATTTAGCCCAAAAATGTCTGTGTCAGGCAGCTCCACCACCGATACAGTGTGTCTCTTCCAAACCACTCAAGGACCAAGTTCTTTTTCAAGTGCTATGAATTCTCCCCTTGAATGATGAGAGAGCAAGGTTGGGGACAAGTCAACACTGTCTCTGAGGACAGTTTTGCAGGGAACTGAATTTTCCTATGTGAAAGAATTTAGACTTCCTCTGAGGGTCAGGAATGCTGCTAAATGTCCTAGGGTGCACAGCCTGTACAACAAAGACATATCTG... |
Task1_train_20616 | Located on Chromosome 15, this mutation impacts EPB42 (erythrocyte membrane protein band 4.2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hereditary spherocytosis type 5 | GTCCCTTGGGCAGGACAGCTTCCAGGGCATGGGTAAGGAGGGCTCATCACAGTACTCCAACCATGGTGAACAGATCCCCAGCATTAGAGCCACCTGGTACTGGTTAAACCTGCATGCTTCTGGGCTCCATCCTAGGCCCCTGGGTCATAGCTCTAGGGCTGGAGCCCAGGACCCTCCTTCTTAACAAGTTCTCTGGCTCCAGCCACAAAGAGGAGCATTAGAGCTGCCCTTCCTTGGGGGCTGGTTTCACCGGTTCTTAGTCCTCCACCCTGACTCGTTTGAGGTGCTTTGCACCTGGGTCCTGGAGGCCACTTATCCCA... | GTCCCTTGGGCAGGACAGCTTCCAGGGCATGGGTAAGGAGGGCTCATCACAGTACTCCAACCATGGTGAACAGATCCCCAGCATTAGAGCCACCTGGTACTGGTTAAACCTGCATGCTTCTGGGCTCCATCCTAGGCCCCTGGGTCATAGCTCTAGGGCTGGAGCCCAGGACCCTCCTTCTTAACAAGTTCTCTGGCTCCAGCCACAAAGAGGAGCATTAGAGCTGCCCTTCCTTGGGGGCTGGTTTCACCGGTTCTTAGTCCTCCACCCTGACTCGTTTGAGGTGCTTTGCACCTGGGTCCTGGAGGCCACTTATCCCA... |
Task1_train_20617 | Here’s a variant in TGM5 (transglutaminase 5) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Acral peeling skin syndrome | GAAGGTTAGTGCTGATTGAGCTACAGGGGACTGGGCCACGTTTGACCTACTTTGACCAACCCTTTGTTTTCCAGGCCACTAAAGGGCCATGATTCTCACAAACATGTTAATTGGTCTACTGTCATTGCATAATCTCCATTCACTGGCTCCACTTCTCTCATCACGCAGTTCCAGACAACCACACCCAAACCTGGCTCACTCCTTCTACACACACATACCTGGCCCATTAGATGCTAGGCTTTTCCACACACTGGAAGGTTCTCTCTCTATCTTATACAAGATCTAGTCTCTACCTGTCAGTCTTGTGCTTGCTTCCTGAA... | GAAGGTTAGTGCTGATTGAGCTACAGGGGACTGGGCCACGTTTGACCTACTTTGACCAACCCTTTGTTTTCCAGGCCACTAAAGGGCCATGATTCTCACAAACATGTTAATTGGTCTACTGTCATTGCATAATCTCCATTCACTGGCTCCACTTCTCTCATCACGCAGTTCCAGACAACCACACCCAAACCTGGCTCACTCCTTCTACACACACATACCTGGCCCATTAGATGCTAGGCTTTTCCACACACTGGAAGGTTCTCTCTCTATCTTATACAAGATCTAGTCTCTACCTGTCAGTCTTGTGCTTGCTTCCTGAA... |
Task1_train_20618 | A mutation on Chromosome 15 affecting TGM5 (transglutaminase 5) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Acral peeling skin syndrome | TAGCATTAGGAGATATACCTAATGTAAATGACAAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCATGTTGTGCACACATACCATAGAACTTAACGTATAATAATAAAAAAAAGAAACCATTACAAAAAAAAAAAAGAAAAACTACCTGTTGGGTAGTATGCTTATTACCTGGGTAATAAAATAATGCGTACATCAAACCAAACCTCTGTGGTGTGCAATTTACCTACATAGCAAATCTGTATGTGTACCCCTGAACCTAAAATAAAGGTTAAAAATTATCTTTTTAAAGTTAAGA... | TAGCATTAGGAGATATACCTAATGTAAATGACAAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCATGTTGTGCACACATACCATAGAACTTAACGTATAATAATAAAAAAAAGAAACCATTACAAAAAAAAAAAAGAAAAACTACCTGTTGGGTAGTATGCTTATTACCTGGGTAATAAAATAATGCGTACATCAAACCAAACCTCTGTGGTGTGCAATTTACCTACATAGCAAATCTGTATGTGTACCCCTGAACCTAAAATAAAGGTTAAAAATTATCTTTTTAAAGTTAAGA... |
Task1_train_20619 | Here is a genetic alteration in TGM5 (transglutaminase 5) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; TGM5-related disorder | TAGCATTAGGAGATATACCTAATGTAAATGACAAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCATGTTGTGCACACATACCATAGAACTTAACGTATAATAATAAAAAAAAGAAACCATTACAAAAAAAAAAAAGAAAAACTACCTGTTGGGTAGTATGCTTATTACCTGGGTAATAAAATAATGCGTACATCAAACCAAACCTCTGTGGTGTGCAATTTACCTACATAGCAAATCTGTATGTGTACCCCTGAACCTAAAATAAAGGTTAAAAATTATCTTTTTAAAGTTAAGA... | TAGCATTAGGAGATATACCTAATGTAAATGACAAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCATGTTGTGCACACATACCATAGAACTTAACGTATAATAATAAAAAAAAGAAACCATTACAAAAAAAAAAAAGAAAAACTACCTGTTGGGTAGTATGCTTATTACCTGGGTAATAAAATAATGCGTACATCAAACCAAACCTCTGTGGTGTGCAATTTACCTACATAGCAAATCTGTATGTGTACCCCTGAACCTAAAATAAAGGTTAAAAATTATCTTTTTAAAGTTAAGA... |
Task1_train_20620 | An alteration has been detected in TGM5 (transglutaminase 5) on Chromosome 15. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Inborn genetic diseases | TAGCATTAGGAGATATACCTAATGTAAATGACAAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCATGTTGTGCACACATACCATAGAACTTAACGTATAATAATAAAAAAAAGAAACCATTACAAAAAAAAAAAAGAAAAACTACCTGTTGGGTAGTATGCTTATTACCTGGGTAATAAAATAATGCGTACATCAAACCAAACCTCTGTGGTGTGCAATTTACCTACATAGCAAATCTGTATGTGTACCCCTGAACCTAAAATAAAGGTTAAAAATTATCTTTTTAAAGTTAAGA... | TAGCATTAGGAGATATACCTAATGTAAATGACAAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCATGTTGTGCACACATACCATAGAACTTAACGTATAATAATAAAAAAAAGAAACCATTACAAAAAAAAAAAAGAAAAACTACCTGTTGGGTAGTATGCTTATTACCTGGGTAATAAAATAATGCGTACATCAAACCAAACCTCTGTGGTGTGCAATTTACCTACATAGCAAATCTGTATGTGTACCCCTGAACCTAAAATAAAGGTTAAAAATTATCTTTTTAAAGTTAAGA... |
Task1_train_20621 | A variant was discovered in gene FRMD5 (FERM domain containing 5), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Neurodevelopmental disorder with eye movement abnormalities and ataxia | AGCAATGAAGATACTCAAGTAACTTGATGGTGTTTGTCTAGCCGGGGTTCTCAACCTCTAGACCATAGGGAGTTACATACTAGACTTTGGTAACATGGAATCTCACACTCACAGTGACACATCCTAAAATCCTAAACACAAATTAGATCTCAGGGAAACAGCAGAGTGATAGCCTTCCTAACGTGAGCAATTCATTTTCATTCCCAAGCAGCATTCTTACAGAAAGGACAAAGGGCTGTCCTGCCAGCTTCCACACCATTAATCCCAGGAGAGAGACAGGTATGAACCAATTCTGCTGTTTCCCGCTGTGTGAGATTTCT... | AGCAATGAAGATACTCAAGTAACTTGATGGTGTTTGTCTAGCCGGGGTTCTCAACCTCTAGACCATAGGGAGTTACATACTAGACTTTGGTAACATGGAATCTCACACTCACAGTGACACATCCTAAAATCCTAAACACAAATTAGATCTCAGGGAAACAGCAGAGTGATAGCCTTCCTAACGTGAGCAATTCATTTTCATTCCCAAGCAGCATTCTTACAGAAAGGACAAAGGGCTGTCCTGCCAGCTTCCACACCATTAATCCCAGGAGAGAGACAGGTATGAACCAATTCTGCTGTTTCCCGCTGTGTGAGATTTCT... |
Task1_train_20622 | A genetic alteration is present in FRMD5 (FERM domain containing 5) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Neurodevelopmental disorder with eye movement abnormalities and ataxia | GATACTCAAGTAACTTGATGGTGTTTGTCTAGCCGGGGTTCTCAACCTCTAGACCATAGGGAGTTACATACTAGACTTTGGTAACATGGAATCTCACACTCACAGTGACACATCCTAAAATCCTAAACACAAATTAGATCTCAGGGAAACAGCAGAGTGATAGCCTTCCTAACGTGAGCAATTCATTTTCATTCCCAAGCAGCATTCTTACAGAAAGGACAAAGGGCTGTCCTGCCAGCTTCCACACCATTAATCCCAGGAGAGAGACAGGTATGAACCAATTCTGCTGTTTCCCGCTGTGTGAGATTTCTGAGGTCCTA... | GATACTCAAGTAACTTGATGGTGTTTGTCTAGCCGGGGTTCTCAACCTCTAGACCATAGGGAGTTACATACTAGACTTTGGTAACATGGAATCTCACACTCACAGTGACACATCCTAAAATCCTAAACACAAATTAGATCTCAGGGAAACAGCAGAGTGATAGCCTTCCTAACGTGAGCAATTCATTTTCATTCCCAAGCAGCATTCTTACAGAAAGGACAAAGGGCTGTCCTGCCAGCTTCCACACCATTAATCCCAGGAGAGAGACAGGTATGAACCAATTCTGCTGTTTCCCGCTGTGTGAGATTTCTGAGGTCCTA... |
Task1_train_20623 | This sequence change occurs on Chromosome 15, altering SPG11 (SPG11 vesicle trafficking associated, spatacsin). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hereditary spastic paraplegia 11 | AGAATGCTCACAATGTTTCACTAGTAAGTATGATGTTGGCTAAAAGGATTTTTCTAGGTACCCCTTTTAAGTTAAGGGAGTTTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATTGAGACCAATCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAGAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGAGGAGACCTGGGAGGCGGAGCTTGCAGTGA... | AGAATGCTCACAATGTTTCACTAGTAAGTATGATGTTGGCTAAAAGGATTTTTCTAGGTACCCCTTTTAAGTTAAGGGAGTTTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATTGAGACCAATCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAGAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGAGGAGACCTGGGAGGCGGAGCTTGCAGTGA... |
Task1_train_20624 | This mutation occurs in SPG11 (SPG11 vesicle trafficking associated, spatacsin) on Chromosome 15. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Amyotrophic lateral sclerosis type 5 | AGAATGCTCACAATGTTTCACTAGTAAGTATGATGTTGGCTAAAAGGATTTTTCTAGGTACCCCTTTTAAGTTAAGGGAGTTTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATTGAGACCAATCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAGAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGAGGAGACCTGGGAGGCGGAGCTTGCAGTGA... | AGAATGCTCACAATGTTTCACTAGTAAGTATGATGTTGGCTAAAAGGATTTTTCTAGGTACCCCTTTTAAGTTAAGGGAGTTTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATTGAGACCAATCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAGAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGAGGAGACCTGGGAGGCGGAGCTTGCAGTGA... |
Task1_train_20625 | A mutation in SPG11 (SPG11 vesicle trafficking associated, spatacsin), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2X | AGAATGCTCACAATGTTTCACTAGTAAGTATGATGTTGGCTAAAAGGATTTTTCTAGGTACCCCTTTTAAGTTAAGGGAGTTTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATTGAGACCAATCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAGAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGAGGAGACCTGGGAGGCGGAGCTTGCAGTGA... | AGAATGCTCACAATGTTTCACTAGTAAGTATGATGTTGGCTAAAAGGATTTTTCTAGGTACCCCTTTTAAGTTAAGGGAGTTTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATTGAGACCAATCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAGAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGAGGAGACCTGGGAGGCGGAGCTTGCAGTGA... |
Task1_train_20626 | Mutation context: Chromosome 15, Gene SPG11 (SPG11 vesicle trafficking associated, spatacsin). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hereditary spastic paraplegia 11 | AGAATGCTCACAATGTTTCACTAGTAAGTATGATGTTGGCTAAAAGGATTTTTCTAGGTACCCCTTTTAAGTTAAGGGAGTTTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATTGAGACCAATCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAGAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGAGGAGACCTGGGAGGCGGAGCTTGCAGTGA... | AGAATGCTCACAATGTTTCACTAGTAAGTATGATGTTGGCTAAAAGGATTTTTCTAGGTACCCCTTTTAAGTTAAGGGAGTTTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATTGAGACCAATCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAGAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGAGGAGACCTGGGAGGCGGAGCTTGCAGTGA... |
Task1_train_20627 | This genomic variant is located on Chromosome 15, within the B2M (beta-2-microglobulin) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Non-Hodgkin lymphoma | CAGCCTGTCTGATACTTGTCCTCTTCTTAGAAAAGATTACAGTGATGCTCTCACAAAATCTTGCCGCCTTCCCTCAAACAGAGAGTTCCAGGCAGGATGAATCTGTGCTCTGATCCCTGAGGCATTTAATATGTTCTTATTATTAGAAGCTCAGATGCAAAGAGCTCTCTTAGCTTTTAATGTTATGAAAAAAATCAGGTCTTCATTAGATTCCCCAATCCACCTCTTGATGGGGCTAGTAGCCTTTCCTTAATGATAGGGTGTTTCTAGAGAGATATATCTGGTCAAGGTGGCCTGGTACTCCTCCTTCTCCCCACAGC... | CAGCCTGTCTGATACTTGTCCTCTTCTTAGAAAAGATTACAGTGATGCTCTCACAAAATCTTGCCGCCTTCCCTCAAACAGAGAGTTCCAGGCAGGATGAATCTGTGCTCTGATCCCTGAGGCATTTAATATGTTCTTATTATTAGAAGCTCAGATGCAAAGAGCTCTCTTAGCTTTTAATGTTATGAAAAAAATCAGGTCTTCATTAGATTCCCCAATCCACCTCTTGATGGGGCTAGTAGCCTTTCCTTAATGATAGGGTGTTTCTAGAGAGATATATCTGGTCAAGGTGGCCTGGTACTCCTCCTTCTCCCCACAGC... |
Task1_train_20628 | Gene SORD (sorbitol dehydrogenase), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Neuronopathy, distal hereditary motor, autosomal recessive 8 | TCTATTTTCTTTCTATTTTCCTGCTTCTCCTTGGCTTCTTGATCATCTGTTACCCAATTTGGACTGTTCCCTGAACCCCATTGTAAAAACTACCAAGTTGCCTCATCACTCTCTGGTGTTTATAAAGCATGAAAGGTTGGGGCTGGGAAGAAACTTGGAGTCTTCTCATCCTCGTTCTCCATCAACCCCCACTGGACAAGATTGGGGAGGGTGGAGTCAGTGGTTTTCCCAAGGTCAGTGGCAGCGGGGCTGGCCTCCAGGACTCCTTGTACATGCTTCTGCCTCCACACCAGGTGGCTTTCCAACACGGTTGGCTGTGT... | TCTATTTTCTTTCTATTTTCCTGCTTCTCCTTGGCTTCTTGATCATCTGTTACCCAATTTGGACTGTTCCCTGAACCCCATTGTAAAAACTACCAAGTTGCCTCATCACTCTCTGGTGTTTATAAAGCATGAAAGGTTGGGGCTGGGAAGAAACTTGGAGTCTTCTCATCCTCGTTCTCCATCAACCCCCACTGGACAAGATTGGGGAGGGTGGAGTCAGTGGTTTTCCCAAGGTCAGTGGCAGCGGGGCTGGCCTCCAGGACTCCTTGTACATGCTTCTGCCTCCACACCAGGTGGCTTTCCAACACGGTTGGCTGTGT... |
Task1_train_20629 | A genetic alteration is present in SORD (sorbitol dehydrogenase) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Neuronopathy, distal hereditary motor, autosomal recessive 8 | CCTGCAATCCCGTCACCGATTAGCCCAAGAGAACCACTGTTAATATTTGGGTATAGAATCTTTTAGTTAGTTAGTTTTTTTCTGAGACCATGCTAAATACGCTTCCTTTACCTACTCTTTTTTAAAAATCAGGCTGGGCATGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAAGCAGTCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAATCTCCACTACTTAGGAGGCTGAGGTG... | CCTGCAATCCCGTCACCGATTAGCCCAAGAGAACCACTGTTAATATTTGGGTATAGAATCTTTTAGTTAGTTAGTTTTTTTCTGAGACCATGCTAAATACGCTTCCTTTACCTACTCTTTTTTAAAAATCAGGCTGGGCATGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAAGCAGTCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAATCTCCACTACTTAGGAGGCTGAGGTG... |
Task1_train_20630 | A variant found in Chromosome 15 affects SORD (sorbitol dehydrogenase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | TTTGGGTATAGAATCTTTTAGTTAGTTAGTTTTTTTCTGAGACCATGCTAAATACGCTTCCTTTACCTACTCTTTTTTAAAAATCAGGCTGGGCATGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAAGCAGTCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAATCTCCACTACTTAGGAGGCTGAGGTGAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAT... | TTTGGGTATAGAATCTTTTAGTTAGTTAGTTTTTTTCTGAGACCATGCTAAATACGCTTCCTTTACCTACTCTTTTTTAAAAATCAGGCTGGGCATGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAAGCAGTCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAATCTCCACTACTTAGGAGGCTGAGGTGAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAT... |
Task1_train_20631 | Given a variant located on Chromosome 15 and affecting SORD (sorbitol dehydrogenase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Neuronopathy, distal hereditary motor, autosomal recessive 8 | GGCTTCCTCCTTCCTTCTGAGGCTCACAGCAGGAGGGCACTTTGCATCACATGAGACATTCTAGGGAAGGCTGACCCACCAAGCTGAGTAGCAGAGCTGCCTAGACCTCCTCCTACTAAGTTGCCCAGCGGCCTTGGGAGCTGAGGAAGCAGTGGGGGAGAGGGAGGAGCGGGTGCCACCTTGGCAGTGTCGTGAGTTTCAGCTGGAGTCGGCCAGCCCTCTGCTTCACTGTCATAGGCAGTGGTCGCCATGTGGGAAGGGGCAAAAAGAAGCCGAAGCTCAGAGAGGAACAATGGATCTGTGTGTGATTGATCTACCCA... | GGCTTCCTCCTTCCTTCTGAGGCTCACAGCAGGAGGGCACTTTGCATCACATGAGACATTCTAGGGAAGGCTGACCCACCAAGCTGAGTAGCAGAGCTGCCTAGACCTCCTCCTACTAAGTTGCCCAGCGGCCTTGGGAGCTGAGGAAGCAGTGGGGGAGAGGGAGGAGCGGGTGCCACCTTGGCAGTGTCGTGAGTTTCAGCTGGAGTCGGCCAGCCCTCTGCTTCACTGTCATAGGCAGTGGTCGCCATGTGGGAAGGGGCAAAAAGAAGCCGAAGCTCAGAGAGGAACAATGGATCTGTGTGTGATTGATCTACCCA... |
Task1_train_20632 | This genomic variant is located on Chromosome 15, within the DUOX2 (dual oxidase 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | CTGAGACCAGAAACGGAGACACAGGCAGAGGGAGGATACAGAACATCCTAGTCTTTTCTGAGGCACCCCGGTCCTCTCCCAGGCTGGCTTTGGGACGGCTGGAGCTTCTAGTCTCAGGATAGGGAAGGGCAGAGATCCTCTGCCAGTGCCAGAGGCCCGGAAGCAGGGTTCCCAGTGACGGGCACCTTTGGGTATCCAGCACAGCCATTGCCCTTTGGGGATGAGTAGATCTCCCTGAGGCGAGTGGTCCAGGGCCCCACTGCCCGGATGTGCAGGCTGAGTGTGTCCTCATGGGGCGCGGAGGTCAGTGTGAAGGGGTG... | CTGAGACCAGAAACGGAGACACAGGCAGAGGGAGGATACAGAACATCCTAGTCTTTTCTGAGGCACCCCGGTCCTCTCCCAGGCTGGCTTTGGGACGGCTGGAGCTTCTAGTCTCAGGATAGGGAAGGGCAGAGATCCTCTGCCAGTGCCAGAGGCCCGGAAGCAGGGTTCCCAGTGACGGGCACCTTTGGGTATCCAGCACAGCCATTGCCCTTTGGGGATGAGTAGATCTCCCTGAGGCGAGTGGTCCAGGGCCCCACTGCCCGGATGTGCAGGCTGAGTGTGTCCTCATGGGGCGCGGAGGTCAGTGTGAAGGGGTG... |
Task1_train_20633 | Gene DUOX2 (dual oxidase 2) on Chromosome 15 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Genetic transient congenital hypothyroidism | CCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAAGAGAAGAGAAGAAAAAAAGAGAGACCCAGAGGGGTTGGGAAGGGTGTGGTGGGCTGACTGGGAATCAAGGGCTCATAGGGGCTGTCTAAGGCTAGACAGAGGGTCTGGGGCTCAGGCTGAGGAGCAGTCTGAGGTGGGGGCCCAGGCAAGCCTTACCCATTCCTGGTGTTCTCAAACCAGTAGCGGTCACCATCCCGCAGCCGTACAAACTGGTCGAGGACAATGGCACTGAACAGGGGTCCAGGGTCCCCATGGCTCTCCAGGAGCCCCCCAAGG... | CCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAAGAGAAGAGAAGAAAAAAAGAGAGACCCAGAGGGGTTGGGAAGGGTGTGGTGGGCTGACTGGGAATCAAGGGCTCATAGGGGCTGTCTAAGGCTAGACAGAGGGTCTGGGGCTCAGGCTGAGGAGCAGTCTGAGGTGGGGGCCCAGGCAAGCCTTACCCATTCCTGGTGTTCTCAAACCAGTAGCGGTCACCATCCCGCAGCCGTACAAACTGGTCGAGGACAATGGCACTGAACAGGGGTCCAGGGTCCCCATGGCTCTCCAGGAGCCCCCCAAGG... |
Task1_train_20634 | Gene DUOX2 (dual oxidase 2) on Chromosome 15 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Familial thyroid dyshormonogenesis | CCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAAGAGAAGAGAAGAAAAAAAGAGAGACCCAGAGGGGTTGGGAAGGGTGTGGTGGGCTGACTGGGAATCAAGGGCTCATAGGGGCTGTCTAAGGCTAGACAGAGGGTCTGGGGCTCAGGCTGAGGAGCAGTCTGAGGTGGGGGCCCAGGCAAGCCTTACCCATTCCTGGTGTTCTCAAACCAGTAGCGGTCACCATCCCGCAGCCGTACAAACTGGTCGAGGACAATGGCACTGAACAGGGGTCCAGGGTCCCCATGGCTCTCCAGGAGCCCCCCAAGG... | CCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAAGAGAAGAGAAGAAAAAAAGAGAGACCCAGAGGGGTTGGGAAGGGTGTGGTGGGCTGACTGGGAATCAAGGGCTCATAGGGGCTGTCTAAGGCTAGACAGAGGGTCTGGGGCTCAGGCTGAGGAGCAGTCTGAGGTGGGGGCCCAGGCAAGCCTTACCCATTCCTGGTGTTCTCAAACCAGTAGCGGTCACCATCCCGCAGCCGTACAAACTGGTCGAGGACAATGGCACTGAACAGGGGTCCAGGGTCCCCATGGCTCTCCAGGAGCCCCCCAAGG... |
Task1_train_20635 | This sequence variant lies in DUOX2 (dual oxidase 2) on Chromosome 15. Is it clinically significant, and what condition might it cause if any? | Pathogenic; DUOX2-related disorder | CCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAAGAGAAGAGAAGAAAAAAAGAGAGACCCAGAGGGGTTGGGAAGGGTGTGGTGGGCTGACTGGGAATCAAGGGCTCATAGGGGCTGTCTAAGGCTAGACAGAGGGTCTGGGGCTCAGGCTGAGGAGCAGTCTGAGGTGGGGGCCCAGGCAAGCCTTACCCATTCCTGGTGTTCTCAAACCAGTAGCGGTCACCATCCCGCAGCCGTACAAACTGGTCGAGGACAATGGCACTGAACAGGGGTCCAGGGTCCCCATGGCTCTCCAGGAGCCCCCCAAGG... | CCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAAGAGAAGAGAAGAAAAAAAGAGAGACCCAGAGGGGTTGGGAAGGGTGTGGTGGGCTGACTGGGAATCAAGGGCTCATAGGGGCTGTCTAAGGCTAGACAGAGGGTCTGGGGCTCAGGCTGAGGAGCAGTCTGAGGTGGGGGCCCAGGCAAGCCTTACCCATTCCTGGTGTTCTCAAACCAGTAGCGGTCACCATCCCGCAGCCGTACAAACTGGTCGAGGACAATGGCACTGAACAGGGGTCCAGGGTCCCCATGGCTCTCCAGGAGCCCCCCAAGG... |
Task1_train_20636 | With a mutation on Chromosome 15 in gene DUOXA2 (dual oxidase maturation factor 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Thyroglobulin synthesis defect | ATCCGGTGGGTGATGACCTTCAGGCCAAAAGGACAGATGCCAGCAGCTCAGACTGCAGTGTTCCCCTTTGCACTGGGTTGAGACACATGTGTATGGGTGCCTCATCCTCAGGACTGAGACTCCCACATTGGATTAGAAGTTGGAGCCAACTGGGTGCATTGTCTTAGACTTTCCCCCTCTCCCAGAACCTAGGTTGTGCATTTTTCAGTTCTGGGAGGACCCAGCTTTTCTGCATCTTAATCTGTGTTGCTTTCCCTGGAACTGGTGCACCTAGGAGTATCTGCATTCCCACCTCCTCCCCTCGGAGATCAGGCTGGGGC... | ATCCGGTGGGTGATGACCTTCAGGCCAAAAGGACAGATGCCAGCAGCTCAGACTGCAGTGTTCCCCTTTGCACTGGGTTGAGACACATGTGTATGGGTGCCTCATCCTCAGGACTGAGACTCCCACATTGGATTAGAAGTTGGAGCCAACTGGGTGCATTGTCTTAGACTTTCCCCCTCTCCCAGAACCTAGGTTGTGCATTTTTCAGTTCTGGGAGGACCCAGCTTTTCTGCATCTTAATCTGTGTTGCTTTCCCTGGAACTGGTGCACCTAGGAGTATCTGCATTCCCACCTCCTCCCCTCGGAGATCAGGCTGGGGC... |
Task1_train_20637 | This mutation occurs in GATM (glycine amidinotransferase) on Chromosome 15. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Fanconi renotubular syndrome 1 | TAAAAACAGCAACAACTGTTAAACCATGTCCGCTATCATTTTTGTTTAAAGCAAGGATTTACAAGTGAAGAATATTAAAGTGACAGCTCAGTTCTTTCAGTAGTTCACTTTCCATGTGAACATTTATTTTAATCTTAAAACAATTTATCTATAAATGGTATGAATCAATCTGTACTCATTATACATTTGAATTTCACCCTGTTTTCTTTTAAAAGTCATATCTTGGCTGGGCATGGTATAATCCTAGCACTTTGGGAGGCTGAGGCAGGAGGATTCCTTGAGCCTAGGAGTTTGAGACTATTGCCCAGAGATGGTGCCTC... | TAAAAACAGCAACAACTGTTAAACCATGTCCGCTATCATTTTTGTTTAAAGCAAGGATTTACAAGTGAAGAATATTAAAGTGACAGCTCAGTTCTTTCAGTAGTTCACTTTCCATGTGAACATTTATTTTAATCTTAAAACAATTTATCTATAAATGGTATGAATCAATCTGTACTCATTATACATTTGAATTTCACCCTGTTTTCTTTTAAAAGTCATATCTTGGCTGGGCATGGTATAATCCTAGCACTTTGGGAGGCTGAGGCAGGAGGATTCCTTGAGCCTAGGAGTTTGAGACTATTGCCCAGAGATGGTGCCTC... |
Task1_train_20638 | Consider a variant on Chromosome 15 in gene AFG2B, LOC130056997 (AFG2 AAA ATPase homolog B| ATAC-STARR-seq lymphoblastoid silent region 6407). Determine its clinical classification and disease relevance. | Pathogenic; not provided | ACCTCTTAGACCAACCAAAAGCAACATGTAGTTTCCTTCTCATCATATTCCTAATAGCATAGTTTGTGCCTCTGTTTTAAACCAATTCAGAAAATTTTGAGGCCGATTTAACTTTATTGGCTCCCTGTTTTGGCTTTGGTTATTCCACTCCATTAAACCTTTACTTCTTGGCCATTTCTGCACTGTAAATATAAGTAAATCTACTAACTCTTTTACATGAGATCCCTTTACATATTTAAGACAGTTATCCTGTCCTCAGTAAGTCTTCTTTCCCTCTCCCAGATCCTTAAAGCTTCTTGGAGCTGAATAGAAGGAACTCG... | ACCTCTTAGACCAACCAAAAGCAACATGTAGTTTCCTTCTCATCATATTCCTAATAGCATAGTTTGTGCCTCTGTTTTAAACCAATTCAGAAAATTTTGAGGCCGATTTAACTTTATTGGCTCCCTGTTTTGGCTTTGGTTATTCCACTCCATTAAACCTTTACTTCTTGGCCATTTCTGCACTGTAAATATAAGTAAATCTACTAACTCTTTTACATGAGATCCCTTTACATATTTAAGACAGTTATCCTGTCCTCAGTAAGTCTTCTTTCCCTCTCCCAGATCCTTAAAGCTTCTTGGAGCTGAATAGAAGGAACTCG... |
Task1_train_20639 | This genomic variant is located on Chromosome 15, within the AFG2B, LOC130056998 (AFG2 AAA ATPase homolog B| ATAC-STARR-seq lymphoblastoid silent region 6408) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | TCCTAAATTGTTCCAGAATCGATTTAAGCAGACAAGTACAGCTGAGACCAGGTAAGTTACTGTCAAGTCAAGAAGTCTGTCATGTCTGCCATGAAGTTTGGACAGAATGAGATCAGGAACTGGCATGGGTCTTAAGATCCCAGATCTGACAGTACTTCCCATTGATAAGATATTACTACACAGTCTGTAATTGATTATTTGCATAGATAGAAAAAAAAAACTTCCCAGCAACTTAAGCACTCTAAAATATCAGTTTTGTCAACTCACAAATTTGGGTTGCAGTGAAAGTGGGGAAAATAGAGGTAGGAAGATGTAAGTCA... | TCCTAAATTGTTCCAGAATCGATTTAAGCAGACAAGTACAGCTGAGACCAGGTAAGTTACTGTCAAGTCAAGAAGTCTGTCATGTCTGCCATGAAGTTTGGACAGAATGAGATCAGGAACTGGCATGGGTCTTAAGATCCCAGATCTGACAGTACTTCCCATTGATAAGATATTACTACACAGTCTGTAATTGATTATTTGCATAGATAGAAAAAAAAAACTTCCCAGCAACTTAAGCACTCTAAAATATCAGTTTTGTCAACTCACAAATTTGGGTTGCAGTGAAAGTGGGGAAAATAGAGGTAGGAAGATGTAAGTCA... |
Task1_train_20640 | A variant on Chromosome 15 in gene AFG2B (AFG2 AAA ATPase homolog B) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; AFG2B-related disorder | GAGAGCCGCGTAGTGGCCCAGGTGTTGACGCTGCTGGACGGCGCCAGTGGGGACCGCGAGGTCGTGGTTGTGGGAGCCACTAACCGGCCGGACGCTCTAGACCCAGCGCTGCGTAGGCCCGGGAGATTTGACCGAGAGGTGAATGGGCTTGGCGGGTTTGCCCACTGTCGGTGGAACCTCGGCCGCTTCTGGCGCCATTTGGCTGCCCCGGAGGCGTTTGCCTCTTAGGTTTGAGCATCGGTGAGGTTGGAGTTGGGGCTCTTTGCAATGCAGAGAACACGTTCTCTGCCGATATATGATCTGTGAGTCAGGACCTGTAT... | GAGAGCCGCGTAGTGGCCCAGGTGTTGACGCTGCTGGACGGCGCCAGTGGGGACCGCGAGGTCGTGGTTGTGGGAGCCACTAACCGGCCGGACGCTCTAGACCCAGCGCTGCGTAGGCCCGGGAGATTTGACCGAGAGGTGAATGGGCTTGGCGGGTTTGCCCACTGTCGGTGGAACCTCGGCCGCTTCTGGCGCCATTTGGCTGCCCCGGAGGCGTTTGCCTCTTAGGTTTGAGCATCGGTGAGGTTGGAGTTGGGGCTCTTTGCAATGCAGAGAACACGTTCTCTGCCGATATATGATCTGTGAGTCAGGACCTGTAT... |
Task1_train_20641 | A sequence alteration has been identified in AFG2B (AFG2 AAA ATPase homolog B) on Chromosome 15. Is it disease-inducing or harmless? | Pathogenic; SPATA5L1-associated disorder | GAGAGCCGCGTAGTGGCCCAGGTGTTGACGCTGCTGGACGGCGCCAGTGGGGACCGCGAGGTCGTGGTTGTGGGAGCCACTAACCGGCCGGACGCTCTAGACCCAGCGCTGCGTAGGCCCGGGAGATTTGACCGAGAGGTGAATGGGCTTGGCGGGTTTGCCCACTGTCGGTGGAACCTCGGCCGCTTCTGGCGCCATTTGGCTGCCCCGGAGGCGTTTGCCTCTTAGGTTTGAGCATCGGTGAGGTTGGAGTTGGGGCTCTTTGCAATGCAGAGAACACGTTCTCTGCCGATATATGATCTGTGAGTCAGGACCTGTAT... | GAGAGCCGCGTAGTGGCCCAGGTGTTGACGCTGCTGGACGGCGCCAGTGGGGACCGCGAGGTCGTGGTTGTGGGAGCCACTAACCGGCCGGACGCTCTAGACCCAGCGCTGCGTAGGCCCGGGAGATTTGACCGAGAGGTGAATGGGCTTGGCGGGTTTGCCCACTGTCGGTGGAACCTCGGCCGCTTCTGGCGCCATTTGGCTGCCCCGGAGGCGTTTGCCTCTTAGGTTTGAGCATCGGTGAGGTTGGAGTTGGGGCTCTTTGCAATGCAGAGAACACGTTCTCTGCCGATATATGATCTGTGAGTCAGGACCTGTAT... |
Task1_train_20642 | The variant affects gene AFG2B (AFG2 AAA ATPase homolog B), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hearing loss, autosomal recessive 119 | GGTTGCATATATCATGACACTTTATCCCTTAACATTTTAATGTCTATTTCCTAAGAACAGAAATGTTCCCATATGTCACCACAGTATGGTGATGTATAGTGTTGTGTCCTTAGAGCCTCACATGTAGAGGCACAGAGTGTACATTGGTTCCTCATTGGTGATGCTAACTTTTATCAACTAGTTCAGGCAGTGCGCAGTTTCTCCACTGTGGAACTGCTATTTTTCCCTTTGCCACTAATGAGAAATCTGTGGGGAGACACTTTGAGATATCCTGCTCCTCATCAAACTTTCAGGCTGGGCACAGTGGCTTACACCTGTAG... | GGTTGCATATATCATGACACTTTATCCCTTAACATTTTAATGTCTATTTCCTAAGAACAGAAATGTTCCCATATGTCACCACAGTATGGTGATGTATAGTGTTGTGTCCTTAGAGCCTCACATGTAGAGGCACAGAGTGTACATTGGTTCCTCATTGGTGATGCTAACTTTTATCAACTAGTTCAGGCAGTGCGCAGTTTCTCCACTGTGGAACTGCTATTTTTCCCTTTGCCACTAATGAGAAATCTGTGGGGAGACACTTTGAGATATCCTGCTCCTCATCAAACTTTCAGGCTGGGCACAGTGGCTTACACCTGTAG... |
Task1_train_20643 | Assess the clinical impact of this variant on gene SQOR (sulfide quinone oxidoreductase), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Sulfide quinone oxidoreductase deficiency | GCAGCCTCTCTTTGTCCATCTCTCTTAGCCTCTTTCTCAGGCCAGCTTCACAGGGTCTCTGCAGCAGGCCGTCCTGCCTGCCGGTCTACTCTGTGTGATAGGATAGTCCACGGCTCCCCAGTGCACAGCCTGTTGCTGGAAGCCAAAGGAGGAGTCACATCTCATCTCTTTCCCTGACTCTCCCTTTCCCTCTCTCCCCTCCTCTCTAGCTCTCTCTGCTTCAGAATTCCCAGGGAAGCAACTCTGACTAGATGAGGGGTCAAAACCACCCTTTTTGACGCAGGTTTTCCTGAAAGGAGCTTGGTTACCACTTTACGGCA... | GCAGCCTCTCTTTGTCCATCTCTCTTAGCCTCTTTCTCAGGCCAGCTTCACAGGGTCTCTGCAGCAGGCCGTCCTGCCTGCCGGTCTACTCTGTGTGATAGGATAGTCCACGGCTCCCCAGTGCACAGCCTGTTGCTGGAAGCCAAAGGAGGAGTCACATCTCATCTCTTTCCCTGACTCTCCCTTTCCCTCTCTCCCCTCCTCTCTAGCTCTCTCTGCTTCAGAATTCCCAGGGAAGCAACTCTGACTAGATGAGGGGTCAAAACCACCCTTTTTGACGCAGGTTTTCCTGAAAGGAGCTTGGTTACCACTTTACGGCA... |
Task1_train_20644 | A variant on Chromosome 15 in gene SLC24A5 (solute carrier family 24 member 5) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | TCTTTAGTTACCTTCTCAATTAAGTCCTTTCTGGTTATCCAATCTAAAATTTCAATCCTTCCTCTCTGACATTTTTCTCTCTCTCCCCTCCCTGCCTTTACTCCTTGCAACTTATCTCTAACATCATACCTATTTTGCTTATCTTATCTGCTTCCCCTTACTAAAAGTAAAGCTCTGTGAGAGCAGGAATATTTGTCTATTTTGTTCACTGCCTTATTACTAGCACATTAAAAAAGCATCTGGCATATAGTAAGTACTCAATAAATACAACAAATAAATGAACCACCAGATGACTTAACTATCACCCCAAAACTAGTGGC... | TCTTTAGTTACCTTCTCAATTAAGTCCTTTCTGGTTATCCAATCTAAAATTTCAATCCTTCCTCTCTGACATTTTTCTCTCTCTCCCCTCCCTGCCTTTACTCCTTGCAACTTATCTCTAACATCATACCTATTTTGCTTATCTTATCTGCTTCCCCTTACTAAAAGTAAAGCTCTGTGAGAGCAGGAATATTTGTCTATTTTGTTCACTGCCTTATTACTAGCACATTAAAAAAGCATCTGGCATATAGTAAGTACTCAATAAATACAACAAATAAATGAACCACCAGATGACTTAACTATCACCCCAAAACTAGTGGC... |
Task1_train_20645 | A mutation in MYEF2, SLC24A5 (myelin expression factor 2| solute carrier family 24 member 5), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Oculocutaneous albinism type 6 | GATGATAGTAAGGAAGTCGTATCACCTTTTATGTAGGGGATTAAAGGGTTCTGGAAAACTACGTGGAGCAGAAAAATACCATAACTATTATTGTAATATACAATCTGCCACACCAAGAAACACAAAAGGAATCAGTAAGCTCAAATGCCGTCCCAGCAGACTACAGAACAAGGTTCACCTGAGTGCAGGCAACAGGTGGTCCCAGAGACAAGAATAAGGAAATACCAACCACCTGTGACAGGGAGTCAACCAAGCACACCAGAGTTTGAGGGTCTGGGAAGACTGAAGCGTCAAAAACCAATAGGTATAGTAAACGACAA... | GATGATAGTAAGGAAGTCGTATCACCTTTTATGTAGGGGATTAAAGGGTTCTGGAAAACTACGTGGAGCAGAAAAATACCATAACTATTATTGTAATATACAATCTGCCACACCAAGAAACACAAAAGGAATCAGTAAGCTCAAATGCCGTCCCAGCAGACTACAGAACAAGGTTCACCTGAGTGCAGGCAACAGGTGGTCCCAGAGACAAGAATAAGGAAATACCAACCACCTGTGACAGGGAGTCAACCAAGCACACCAGAGTTTGAGGGTCTGGGAAGACTGAAGCGTCAAAAACCAATAGGTATAGTAAACGACAA... |
Task1_train_20646 | This sequence change occurs on Chromosome 15, altering SLC12A1 (solute carrier family 12 member 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | TAATTTACTTATGACTAGAGGCTTGGTTACTAGTAATGTCTGGAGTTAATTTACTATTGGAAGTGAAAGTAACATATTGCTAATTAGTCCCCAGTGTCCTAAACAAAATAACCCAAAATTTAAACAGCAAAGCAAAATTTTTCTCAACTAAAATTGGAATATCTTCATTGACATGACCCATTTCTTGTAACAAAACATGTTTATAAAGTGGAGAGTGACTATGTGTCTAGTAAGAAGGTATGGAATATTATAGCAAAATATATGGTTTCTTTGTACCTTGGATGAGACCCACTGGCTCTCTCGCAGGTCCTCTCAGCATG... | TAATTTACTTATGACTAGAGGCTTGGTTACTAGTAATGTCTGGAGTTAATTTACTATTGGAAGTGAAAGTAACATATTGCTAATTAGTCCCCAGTGTCCTAAACAAAATAACCCAAAATTTAAACAGCAAAGCAAAATTTTTCTCAACTAAAATTGGAATATCTTCATTGACATGACCCATTTCTTGTAACAAAACATGTTTATAAAGTGGAGAGTGACTATGTGTCTAGTAAGAAGGTATGGAATATTATAGCAAAATATATGGTTTCTTTGTACCTTGGATGAGACCCACTGGCTCTCTCGCAGGTCCTCTCAGCATG... |
Task1_train_20647 | This alteration in SLC12A1 (solute carrier family 12 member 1) on Chromosome 15 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Bartter disease type 1 | TTAATTTACTATTGGAAGTGAAAGTAACATATTGCTAATTAGTCCCCAGTGTCCTAAACAAAATAACCCAAAATTTAAACAGCAAAGCAAAATTTTTCTCAACTAAAATTGGAATATCTTCATTGACATGACCCATTTCTTGTAACAAAACATGTTTATAAAGTGGAGAGTGACTATGTGTCTAGTAAGAAGGTATGGAATATTATAGCAAAATATATGGTTTCTTTGTACCTTGGATGAGACCCACTGGCTCTCTCGCAGGTCCTCTCAGCATGGGTCTTCTCCAATGCCCCAGATGGCATTGCTGATGATTGCCACTC... | TTAATTTACTATTGGAAGTGAAAGTAACATATTGCTAATTAGTCCCCAGTGTCCTAAACAAAATAACCCAAAATTTAAACAGCAAAGCAAAATTTTTCTCAACTAAAATTGGAATATCTTCATTGACATGACCCATTTCTTGTAACAAAACATGTTTATAAAGTGGAGAGTGACTATGTGTCTAGTAAGAAGGTATGGAATATTATAGCAAAATATATGGTTTCTTTGTACCTTGGATGAGACCCACTGGCTCTCTCGCAGGTCCTCTCAGCATGGGTCTTCTCCAATGCCCCAGATGGCATTGCTGATGATTGCCACTC... |
Task1_train_20648 | Chromosome 15 houses a mutation in gene LOC126862123, SLC12A1 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48543423-48544622| solute carrier family 12 member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | TGCCAAATCTCCAGGTAAGCTGACTTCCAAACTAAAATATGCCTAAGCAAACAGTTAGTTTGTCTCAATAAAACGAAATAAATCAGTGAAAAGTGTTCAATCTGTGTTTATATGTTTCCTTATATCCTAGTGGGAAGCGTAATCCACTTTATTTTGGTGAGTTTGGGGATGAGTTTTGAAATAGAAAAAGAATCATTTGAGCAATGGCCTTTTTGACCAACCAGAAAGTCAATTTTCTCCTGTGGCAATAAATTATTCATTGCAAGAGAAACCACACTTATTTCAGCAGTAGAAAAACACCACTATTTATTTCCAGGGTG... | TGCCAAATCTCCAGGTAAGCTGACTTCCAAACTAAAATATGCCTAAGCAAACAGTTAGTTTGTCTCAATAAAACGAAATAAATCAGTGAAAAGTGTTCAATCTGTGTTTATATGTTTCCTTATATCCTAGTGGGAAGCGTAATCCACTTTATTTTGGTGAGTTTGGGGATGAGTTTTGAAATAGAAAAAGAATCATTTGAGCAATGGCCTTTTTGACCAACCAGAAAGTCAATTTTCTCCTGTGGCAATAAATTATTCATTGCAAGAGAAACCACACTTATTTCAGCAGTAGAAAAACACCACTATTTATTTCCAGGGTG... |
Task1_train_20649 | A genomic change on Chromosome 15 affects DUT (deoxyuridine triphosphatase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Bone marrow failure and diabetes mellitus syndrome | CTCCGCGCGCGCCGCGGGCTACGACCTGTACAGGTGAGCGGGGACCTGCCGGCGAGGAGGCTGGGAAGGGCCGGCCGTCCGCTGCCACAGCTAGAAACAGTCACCGGAGAGATCACAGGAACACACTAGCTATAAATAGGATTTCTGCCTTTTTCGTGTTTAAAATTTTAGCTTTCATCTTTGGCATAAATTAAATAGAGATTTGGGCAAAGACTGCAGAATAAGTAAAATAGCTATACGGTGTCTAGCAAGGCGTTACTTTGCAACGTTTATTGTGCCCTTCCTAAATAGAAGATAGAGAGGAAGGCCCATGGTGGCTT... | CTCCGCGCGCGCCGCGGGCTACGACCTGTACAGGTGAGCGGGGACCTGCCGGCGAGGAGGCTGGGAAGGGCCGGCCGTCCGCTGCCACAGCTAGAAACAGTCACCGGAGAGATCACAGGAACACACTAGCTATAAATAGGATTTCTGCCTTTTTCGTGTTTAAAATTTTAGCTTTCATCTTTGGCATAAATTAAATAGAGATTTGGGCAAAGACTGCAGAATAAGTAAAATAGCTATACGGTGTCTAGCAAGGCGTTACTTTGCAACGTTTATTGTGCCCTTCCTAAATAGAAGATAGAGAGGAAGGCCCATGGTGGCTT... |
Task1_train_20650 | 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 | GGAGCTCACCACAATGCAAGGAAACCCATTCTTTCAGTGAGTAGCTCTATAATTGGGACCGTGTGTATTAAACTGGGGCTGACATCAGCTGACCCTGGTTTTGCCTTCCGGAATAGTATGAGCCAAATCTACTCCATTTTTTTCAGCTGAGCTCTTCAAAGATTTTTGAGAGCACTTTCCTGTGTCCTACCTAGTTTCTCCGCCCACCACCTTCATGCCATCTTATTTCCTCTTATTTTCACTACCACGAAATGCTTTCCTGCCCTTAGGGATTTAAAAAATTATTTCATATCGACGGATTGAGCCTAACAGCTAAATAC... | GGAGCTCACCACAATGCAAGGAAACCCATTCTTTCAGTGAGTAGCTCTATAATTGGGACCGTGTGTATTAAACTGGGGCTGACATCAGCTGACCCTGGTTTTGCCTTCCGGAATAGTATGAGCCAAATCTACTCCATTTTTTTCAGCTGAGCTCTTCAAAGATTTTTGAGAGCACTTTCCTGTGTCCTACCTAGTTTCTCCGCCCACCACCTTCATGCCATCTTATTTCCTCTTATTTTCACTACCACGAAATGCTTTCCTGCCCTTAGGGATTTAAAAAATTATTTCATATCGACGGATTGAGCCTAACAGCTAAATAC... |
Task1_train_20651 | 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 | GGAGCTCACCACAATGCAAGGAAACCCATTCTTTCAGTGAGTAGCTCTATAATTGGGACCGTGTGTATTAAACTGGGGCTGACATCAGCTGACCCTGGTTTTGCCTTCCGGAATAGTATGAGCCAAATCTACTCCATTTTTTTCAGCTGAGCTCTTCAAAGATTTTTGAGAGCACTTTCCTGTGTCCTACCTAGTTTCTCCGCCCACCACCTTCATGCCATCTTATTTCCTCTTATTTTCACTACCACGAAATGCTTTCCTGCCCTTAGGGATTTAAAAAATTATTTCATATCGACGGATTGAGCCTAACAGCTAAATAC... | GGAGCTCACCACAATGCAAGGAAACCCATTCTTTCAGTGAGTAGCTCTATAATTGGGACCGTGTGTATTAAACTGGGGCTGACATCAGCTGACCCTGGTTTTGCCTTCCGGAATAGTATGAGCCAAATCTACTCCATTTTTTTCAGCTGAGCTCTTCAAAGATTTTTGAGAGCACTTTCCTGTGTCCTACCTAGTTTCTCCGCCCACCACCTTCATGCCATCTTATTTCCTCTTATTTTCACTACCACGAAATGCTTTCCTGCCCTTAGGGATTTAAAAAATTATTTCATATCGACGGATTGAGCCTAACAGCTAAATAC... |
Task1_train_20652 | 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 | AGGATGGCATGTCAGCATAAATGGCCAACCCCCAATGGAAATACACGTCCCAGTTTTCAAGAATCAACACATATGACAAGGTAGCTTAGCTACACACATGAGAAGCCTGAGAAAGTGGTTGTTTTGAACTAGGGTAGTCACCTGTACCTTGCTTTGGTAATACAAAGAATAGTGCTTATTTATACAAATTTACTTGGTGAAAGATTGTACCTATGATATGATGATTCTGATTGGGGGAAAATATAGTTCTACCTATCTATATTTGTTTTTCTTTTAATTATTTGGTCTCTGGATGGTGAATTAATGAAGCAAAACCTGGA... | AGGATGGCATGTCAGCATAAATGGCCAACCCCCAATGGAAATACACGTCCCAGTTTTCAAGAATCAACACATATGACAAGGTAGCTTAGCTACACACATGAGAAGCCTGAGAAAGTGGTTGTTTTGAACTAGGGTAGTCACCTGTACCTTGCTTTGGTAATACAAAGAATAGTGCTTATTTATACAAATTTACTTGGTGAAAGATTGTACCTATGATATGATGATTCTGATTGGGGGAAAATATAGTTCTACCTATCTATATTTGTTTTTCTTTTAATTATTTGGTCTCTGGATGGTGAATTAATGAAGCAAAACCTGGA... |
Task1_train_20653 | 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 | AGGATGGCATGTCAGCATAAATGGCCAACCCCCAATGGAAATACACGTCCCAGTTTTCAAGAATCAACACATATGACAAGGTAGCTTAGCTACACACATGAGAAGCCTGAGAAAGTGGTTGTTTTGAACTAGGGTAGTCACCTGTACCTTGCTTTGGTAATACAAAGAATAGTGCTTATTTATACAAATTTACTTGGTGAAAGATTGTACCTATGATATGATGATTCTGATTGGGGGAAAATATAGTTCTACCTATCTATATTTGTTTTTCTTTTAATTATTTGGTCTCTGGATGGTGAATTAATGAAGCAAAACCTGGA... | AGGATGGCATGTCAGCATAAATGGCCAACCCCCAATGGAAATACACGTCCCAGTTTTCAAGAATCAACACATATGACAAGGTAGCTTAGCTACACACATGAGAAGCCTGAGAAAGTGGTTGTTTTGAACTAGGGTAGTCACCTGTACCTTGCTTTGGTAATACAAAGAATAGTGCTTATTTATACAAATTTACTTGGTGAAAGATTGTACCTATGATATGATGATTCTGATTGGGGGAAAATATAGTTCTACCTATCTATATTTGTTTTTCTTTTAATTATTTGGTCTCTGGATGGTGAATTAATGAAGCAAAACCTGGA... |
Task1_train_20654 | 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 | GGATGGCATGTCAGCATAAATGGCCAACCCCCAATGGAAATACACGTCCCAGTTTTCAAGAATCAACACATATGACAAGGTAGCTTAGCTACACACATGAGAAGCCTGAGAAAGTGGTTGTTTTGAACTAGGGTAGTCACCTGTACCTTGCTTTGGTAATACAAAGAATAGTGCTTATTTATACAAATTTACTTGGTGAAAGATTGTACCTATGATATGATGATTCTGATTGGGGGAAAATATAGTTCTACCTATCTATATTTGTTTTTCTTTTAATTATTTGGTCTCTGGATGGTGAATTAATGAAGCAAAACCTGGAT... | GGATGGCATGTCAGCATAAATGGCCAACCCCCAATGGAAATACACGTCCCAGTTTTCAAGAATCAACACATATGACAAGGTAGCTTAGCTACACACATGAGAAGCCTGAGAAAGTGGTTGTTTTGAACTAGGGTAGTCACCTGTACCTTGCTTTGGTAATACAAAGAATAGTGCTTATTTATACAAATTTACTTGGTGAAAGATTGTACCTATGATATGATGATTCTGATTGGGGGAAAATATAGTTCTACCTATCTATATTTGTTTTTCTTTTAATTATTTGGTCTCTGGATGGTGAATTAATGAAGCAAAACCTGGAT... |
Task1_train_20655 | 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 | GGATGGCATGTCAGCATAAATGGCCAACCCCCAATGGAAATACACGTCCCAGTTTTCAAGAATCAACACATATGACAAGGTAGCTTAGCTACACACATGAGAAGCCTGAGAAAGTGGTTGTTTTGAACTAGGGTAGTCACCTGTACCTTGCTTTGGTAATACAAAGAATAGTGCTTATTTATACAAATTTACTTGGTGAAAGATTGTACCTATGATATGATGATTCTGATTGGGGGAAAATATAGTTCTACCTATCTATATTTGTTTTTCTTTTAATTATTTGGTCTCTGGATGGTGAATTAATGAAGCAAAACCTGGAT... | GGATGGCATGTCAGCATAAATGGCCAACCCCCAATGGAAATACACGTCCCAGTTTTCAAGAATCAACACATATGACAAGGTAGCTTAGCTACACACATGAGAAGCCTGAGAAAGTGGTTGTTTTGAACTAGGGTAGTCACCTGTACCTTGCTTTGGTAATACAAAGAATAGTGCTTATTTATACAAATTTACTTGGTGAAAGATTGTACCTATGATATGATGATTCTGATTGGGGGAAAATATAGTTCTACCTATCTATATTTGTTTTTCTTTTAATTATTTGGTCTCTGGATGGTGAATTAATGAAGCAAAACCTGGAT... |
Task1_train_20656 | 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 | ATGTTTCACAAGTACCTTGTTTTGTTATTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTG... | ATGTTTCACAAGTACCTTGTTTTGTTATTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTG... |
Task1_train_20657 | 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 | ATGTTTCACAAGTACCTTGTTTTGTTATTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTG... | ATGTTTCACAAGTACCTTGTTTTGTTATTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTG... |
Task1_train_20658 | 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 | ATTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTT... | ATTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTT... |
Task1_train_20659 | 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 | ATTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTT... | ATTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTT... |
Task1_train_20660 | 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 | ATTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTT... | ATTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTT... |
Task1_train_20661 | 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 | ATTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTT... | ATTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTT... |
Task1_train_20662 | 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 | ATTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTT... | ATTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTT... |
Task1_train_20663 | 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 | ATTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTT... | ATTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTT... |
Task1_train_20664 | 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 | TTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTC... | TTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTC... |
Task1_train_20665 | 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 | TTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTC... | TTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTC... |
Task1_train_20666 | This mutation is located in gene FBN1 (fibrillin 1) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Ectopia lentis 1, isolated, autosomal dominant | TTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTC... | TTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTC... |
Task1_train_20667 | 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 | TTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTC... | TTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTC... |
Task1_train_20668 | 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; Weill-Marchesani syndrome 2, dominant | TTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTC... | TTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTC... |
Task1_train_20669 | This gene mutation involves FBN1 (fibrillin 1) on Chromosome 15. Is it associated with any clinical condition, or is it benign? | Pathogenic; Progeroid and marfanoid aspect-lipodystrophy syndrome | TTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTC... | TTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTC... |
Task1_train_20670 | 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; MASS syndrome | TTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTC... | TTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTC... |
Task1_train_20671 | 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; Stiff skin syndrome | TTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTC... | TTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTC... |
Task1_train_20672 | 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; Geleophysic dysplasia 2 | TTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTC... | TTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTC... |
Task1_train_20673 | 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; Acromicric dysplasia | TTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTC... | TTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTC... |
Task1_train_20674 | 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 | TGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTCCTACTGTTTCCCCCAATCTTGCCAGAGTCCAAT... | TGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTCCTACTGTTTCCCCCAATCTTGCCAGAGTCCAAT... |
Task1_train_20675 | The gene FBN1 (fibrillin 1), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Marfan syndrome | TGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTCCTACTGTTTCCCCCAATCTTGCCAGAGTCCAAT... | TGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTCCTACTGTTTCCCCCAATCTTGCCAGAGTCCAAT... |
Task1_train_20676 | 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 | TGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTCCTACTGTTTCCCCCAATCTTGCCAGAGTCCAAT... | TGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTCCTACTGTTTCCCCCAATCTTGCCAGAGTCCAAT... |
Task1_train_20677 | 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 | TGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTCCTACTGTTTCCCCCAATCTTGCCAGAGTCCAAT... | TGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTCCTACTGTTTCCCCCAATCTTGCCAGAGTCCAAT... |
Task1_train_20678 | A variant on Chromosome 15 in gene FBN1 (fibrillin 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Marfan syndrome | TCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTCCTACTGTTTCCCCCAATCTTGCCAGAGTCCAATACATTTCCTTTCCTCTT... | TCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTCCTACTGTTTCCCCCAATCTTGCCAGAGTCCAATACATTTCCTTTCCTCTT... |
Task1_train_20679 | A mutation in FBN1 (fibrillin 1), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTCCTACTGTTTCCCCCAATCTTGCCAGAGTCCAATACATTTCCTTTCCTCTT... | TCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTCCTACTGTTTCCCCCAATCTTGCCAGAGTCCAATACATTTCCTTTCCTCTT... |
Task1_train_20680 | 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 | CTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTCCTACTGTTTCCCCCAATCTTGCCAGAGTCCAATACATTTCCTTTCCTCTTT... | CTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTCCTACTGTTTCCCCCAATCTTGCCAGAGTCCAATACATTTCCTTTCCTCTTT... |
Task1_train_20681 | 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 | CTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTCCTACTGTTTCCCCCAATCTTGCCAGAGTCCAATACATTTCCTTTCCTCTTT... | CTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTCCTACTGTTTCCCCCAATCTTGCCAGAGTCCAATACATTTCCTTTCCTCTTT... |
Task1_train_20682 | 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 | TTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTCCTACTGTTTCCCCCAATCTTGCCAGAGTCCAATACATTTCCTTTCCTCTTTATCTTGCAACATGAAATATGTAGAAACAATACAATGGATGAAGTGATAAATGCTCATCCTGTGGG... | TTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTCCTACTGTTTCCCCCAATCTTGCCAGAGTCCAATACATTTCCTTTCCTCTTTATCTTGCAACATGAAATATGTAGAAACAATACAATGGATGAAGTGATAAATGCTCATCCTGTGGG... |
Task1_train_20683 | A mutation in FBN1 (fibrillin 1), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTCCTACTGTTTCCCCCAATCTTGCCAGAGTCCAATACATTTCCTTTCCTCTTTATCTTGCAACATGAAATATGTAGAAACAATACAATGGATGAAGTGATAAATGCTCATCCTGTGGG... | TTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTCCTACTGTTTCCCCCAATCTTGCCAGAGTCCAATACATTTCCTTTCCTCTTTATCTTGCAACATGAAATATGTAGAAACAATACAATGGATGAAGTGATAAATGCTCATCCTGTGGG... |
Task1_train_20684 | 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 | TTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTCCTACTGTTTCCCCCAATCTTGCCAGAGTCCAATACATTTCCTTTCCTCTTTATCTTGCAACATGAAATATGTAGAAACAATACAATGGATGAAGTGATAAATGCTCATCCTGTGGG... | TTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTCCTACTGTTTCCCCCAATCTTGCCAGAGTCCAATACATTTCCTTTCCTCTTTATCTTGCAACATGAAATATGTAGAAACAATACAATGGATGAAGTGATAAATGCTCATCCTGTGGG... |
Task1_train_20685 | 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 | GATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTCCTACTGTTTCCCCCAATCTTGCCAGAGTCCAATACATTTCCTTTCCTCTTTATCTTGCAACATGAAATATGTAGAAACAATACAATGGATGAAGTGATAAATGCTCATCCTGTGGGTGTGTGC... | GATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTCCTACTGTTTCCCCCAATCTTGCCAGAGTCCAATACATTTCCTTTCCTCTTTATCTTGCAACATGAAATATGTAGAAACAATACAATGGATGAAGTGATAAATGCTCATCCTGTGGGTGTGTGC... |
Task1_train_20686 | 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 | GATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTCCTACTGTTTCCCCCAATCTTGCCAGAGTCCAATACATTTCCTTTCCTCTTTATCTTGCAACATGAAATATGTAGAAACAATACAATGGATGAAGTGATAAATGCTCATCCTGTGGGTGTGTGC... | GATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTCCTACTGTTTCCCCCAATCTTGCCAGAGTCCAATACATTTCCTTTCCTCTTTATCTTGCAACATGAAATATGTAGAAACAATACAATGGATGAAGTGATAAATGCTCATCCTGTGGGTGTGTGC... |
Task1_train_20687 | 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 | GATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTCCTACTGTTTCCCCCAATCTTGCCAGAGTCCAATACATTTCCTTTCCTCTTTATCTTGCAACATGAAATATGTAGAAACAATACAATGGATGAAGTGATAAATGCTCATCCTGTGGGTGTGTGC... | GATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTTAGGATTCAAAATATGTTGCCAATGAACAGAATATCTGTTGTATTTCAAAGCAGTTTATAGGTTCCTACTGTTTCCCCCAATCTTGCCAGAGTCCAATACATTTCCTTTCCTCTTTATCTTGCAACATGAAATATGTAGAAACAATACAATGGATGAAGTGATAAATGCTCATCCTGTGGGTGTGTGC... |
Task1_train_20688 | 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 | GATTGGTGAGGGTTTTGTTTGTTTTATAAAAAGAGACAATTCGAATTTTACCAAAATAGCATTAAAGTCTGAAAACTACTCCTTAAAAGTGGATTGAAACCCACCACTCTGTCCTCTAAAATCAAAGGTTTCAGCATCCAGCTTGCACTGTTCATGTTAGCTGTGGCCTTAAGGGAGTACCGATAGGAAACTTCACAAATGCAGGATGGGCTTTCTTTTACTCATTTTCTCTAGGGGAAAATGGGTCAACTCTATCTATCTGCAAGCTGAATTTTTTGAAATTTACTTCTAGAAAGCAATGAAATTAGTGGCCCTCTTAC... | GATTGGTGAGGGTTTTGTTTGTTTTATAAAAAGAGACAATTCGAATTTTACCAAAATAGCATTAAAGTCTGAAAACTACTCCTTAAAAGTGGATTGAAACCCACCACTCTGTCCTCTAAAATCAAAGGTTTCAGCATCCAGCTTGCACTGTTCATGTTAGCTGTGGCCTTAAGGGAGTACCGATAGGAAACTTCACAAATGCAGGATGGGCTTTCTTTTACTCATTTTCTCTAGGGGAAAATGGGTCAACTCTATCTATCTGCAAGCTGAATTTTTTGAAATTTACTTCTAGAAAGCAATGAAATTAGTGGCCCTCTTAC... |
Task1_train_20689 | 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 | GATTGGTGAGGGTTTTGTTTGTTTTATAAAAAGAGACAATTCGAATTTTACCAAAATAGCATTAAAGTCTGAAAACTACTCCTTAAAAGTGGATTGAAACCCACCACTCTGTCCTCTAAAATCAAAGGTTTCAGCATCCAGCTTGCACTGTTCATGTTAGCTGTGGCCTTAAGGGAGTACCGATAGGAAACTTCACAAATGCAGGATGGGCTTTCTTTTACTCATTTTCTCTAGGGGAAAATGGGTCAACTCTATCTATCTGCAAGCTGAATTTTTTGAAATTTACTTCTAGAAAGCAATGAAATTAGTGGCCCTCTTAC... | GATTGGTGAGGGTTTTGTTTGTTTTATAAAAAGAGACAATTCGAATTTTACCAAAATAGCATTAAAGTCTGAAAACTACTCCTTAAAAGTGGATTGAAACCCACCACTCTGTCCTCTAAAATCAAAGGTTTCAGCATCCAGCTTGCACTGTTCATGTTAGCTGTGGCCTTAAGGGAGTACCGATAGGAAACTTCACAAATGCAGGATGGGCTTTCTTTTACTCATTTTCTCTAGGGGAAAATGGGTCAACTCTATCTATCTGCAAGCTGAATTTTTTGAAATTTACTTCTAGAAAGCAATGAAATTAGTGGCCCTCTTAC... |
Task1_train_20690 | This variant affects gene FBN1 (fibrillin 1) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Marfan syndrome | GATTGGTGAGGGTTTTGTTTGTTTTATAAAAAGAGACAATTCGAATTTTACCAAAATAGCATTAAAGTCTGAAAACTACTCCTTAAAAGTGGATTGAAACCCACCACTCTGTCCTCTAAAATCAAAGGTTTCAGCATCCAGCTTGCACTGTTCATGTTAGCTGTGGCCTTAAGGGAGTACCGATAGGAAACTTCACAAATGCAGGATGGGCTTTCTTTTACTCATTTTCTCTAGGGGAAAATGGGTCAACTCTATCTATCTGCAAGCTGAATTTTTTGAAATTTACTTCTAGAAAGCAATGAAATTAGTGGCCCTCTTAC... | GATTGGTGAGGGTTTTGTTTGTTTTATAAAAAGAGACAATTCGAATTTTACCAAAATAGCATTAAAGTCTGAAAACTACTCCTTAAAAGTGGATTGAAACCCACCACTCTGTCCTCTAAAATCAAAGGTTTCAGCATCCAGCTTGCACTGTTCATGTTAGCTGTGGCCTTAAGGGAGTACCGATAGGAAACTTCACAAATGCAGGATGGGCTTTCTTTTACTCATTTTCTCTAGGGGAAAATGGGTCAACTCTATCTATCTGCAAGCTGAATTTTTTGAAATTTACTTCTAGAAAGCAATGAAATTAGTGGCCCTCTTAC... |
Task1_train_20691 | 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 | AGACAATTCGAATTTTACCAAAATAGCATTAAAGTCTGAAAACTACTCCTTAAAAGTGGATTGAAACCCACCACTCTGTCCTCTAAAATCAAAGGTTTCAGCATCCAGCTTGCACTGTTCATGTTAGCTGTGGCCTTAAGGGAGTACCGATAGGAAACTTCACAAATGCAGGATGGGCTTTCTTTTACTCATTTTCTCTAGGGGAAAATGGGTCAACTCTATCTATCTGCAAGCTGAATTTTTTGAAATTTACTTCTAGAAAGCAATGAAATTAGTGGCCCTCTTACCCCAAAGAGTGAACTTCCAGCCACCTGGGAGTG... | AGACAATTCGAATTTTACCAAAATAGCATTAAAGTCTGAAAACTACTCCTTAAAAGTGGATTGAAACCCACCACTCTGTCCTCTAAAATCAAAGGTTTCAGCATCCAGCTTGCACTGTTCATGTTAGCTGTGGCCTTAAGGGAGTACCGATAGGAAACTTCACAAATGCAGGATGGGCTTTCTTTTACTCATTTTCTCTAGGGGAAAATGGGTCAACTCTATCTATCTGCAAGCTGAATTTTTTGAAATTTACTTCTAGAAAGCAATGAAATTAGTGGCCCTCTTACCCCAAAGAGTGAACTTCCAGCCACCTGGGAGTG... |
Task1_train_20692 | 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 | AGACAATTCGAATTTTACCAAAATAGCATTAAAGTCTGAAAACTACTCCTTAAAAGTGGATTGAAACCCACCACTCTGTCCTCTAAAATCAAAGGTTTCAGCATCCAGCTTGCACTGTTCATGTTAGCTGTGGCCTTAAGGGAGTACCGATAGGAAACTTCACAAATGCAGGATGGGCTTTCTTTTACTCATTTTCTCTAGGGGAAAATGGGTCAACTCTATCTATCTGCAAGCTGAATTTTTTGAAATTTACTTCTAGAAAGCAATGAAATTAGTGGCCCTCTTACCCCAAAGAGTGAACTTCCAGCCACCTGGGAGTG... | AGACAATTCGAATTTTACCAAAATAGCATTAAAGTCTGAAAACTACTCCTTAAAAGTGGATTGAAACCCACCACTCTGTCCTCTAAAATCAAAGGTTTCAGCATCCAGCTTGCACTGTTCATGTTAGCTGTGGCCTTAAGGGAGTACCGATAGGAAACTTCACAAATGCAGGATGGGCTTTCTTTTACTCATTTTCTCTAGGGGAAAATGGGTCAACTCTATCTATCTGCAAGCTGAATTTTTTGAAATTTACTTCTAGAAAGCAATGAAATTAGTGGCCCTCTTACCCCAAAGAGTGAACTTCCAGCCACCTGGGAGTG... |
Task1_train_20693 | A variant was discovered on Chromosome 15, affecting FBN1 (fibrillin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GACAATTCGAATTTTACCAAAATAGCATTAAAGTCTGAAAACTACTCCTTAAAAGTGGATTGAAACCCACCACTCTGTCCTCTAAAATCAAAGGTTTCAGCATCCAGCTTGCACTGTTCATGTTAGCTGTGGCCTTAAGGGAGTACCGATAGGAAACTTCACAAATGCAGGATGGGCTTTCTTTTACTCATTTTCTCTAGGGGAAAATGGGTCAACTCTATCTATCTGCAAGCTGAATTTTTTGAAATTTACTTCTAGAAAGCAATGAAATTAGTGGCCCTCTTACCCCAAAGAGTGAACTTCCAGCCACCTGGGAGTGA... | GACAATTCGAATTTTACCAAAATAGCATTAAAGTCTGAAAACTACTCCTTAAAAGTGGATTGAAACCCACCACTCTGTCCTCTAAAATCAAAGGTTTCAGCATCCAGCTTGCACTGTTCATGTTAGCTGTGGCCTTAAGGGAGTACCGATAGGAAACTTCACAAATGCAGGATGGGCTTTCTTTTACTCATTTTCTCTAGGGGAAAATGGGTCAACTCTATCTATCTGCAAGCTGAATTTTTTGAAATTTACTTCTAGAAAGCAATGAAATTAGTGGCCCTCTTACCCCAAAGAGTGAACTTCCAGCCACCTGGGAGTGA... |
Task1_train_20694 | 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 | TGAGCTGCTAATGAACAAAGACATTTTTATTAAAACCAGATAGCTAGCCAGAGACTCACGCAGTCGAAACTCCTATAGCACAGGGGTCACTTCAGTCAACCCTACATGCCACTGCAAAACTGTCTTGTGTAGAATCAAACTAGATGACAGAGATGATTTTGATAAATGAAAACACACCAAATATGTCTTCATCTGCATGAAAGTGAACCCCTGCAATGCAGAGCCTGCACCCGGGAAGCAGTAATTCTTTGAGTTTTTGCTAAGGAGGGCTCTGTACAGAATAATGTGGCAACTAGAACAGGTTACCAAAGCACCAAGCT... | TGAGCTGCTAATGAACAAAGACATTTTTATTAAAACCAGATAGCTAGCCAGAGACTCACGCAGTCGAAACTCCTATAGCACAGGGGTCACTTCAGTCAACCCTACATGCCACTGCAAAACTGTCTTGTGTAGAATCAAACTAGATGACAGAGATGATTTTGATAAATGAAAACACACCAAATATGTCTTCATCTGCATGAAAGTGAACCCCTGCAATGCAGAGCCTGCACCCGGGAAGCAGTAATTCTTTGAGTTTTTGCTAAGGAGGGCTCTGTACAGAATAATGTGGCAACTAGAACAGGTTACCAAAGCACCAAGCT... |
Task1_train_20695 | 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 | TAAAACCAGATAGCTAGCCAGAGACTCACGCAGTCGAAACTCCTATAGCACAGGGGTCACTTCAGTCAACCCTACATGCCACTGCAAAACTGTCTTGTGTAGAATCAAACTAGATGACAGAGATGATTTTGATAAATGAAAACACACCAAATATGTCTTCATCTGCATGAAAGTGAACCCCTGCAATGCAGAGCCTGCACCCGGGAAGCAGTAATTCTTTGAGTTTTTGCTAAGGAGGGCTCTGTACAGAATAATGTGGCAACTAGAACAGGTTACCAAAGCACCAAGCTTGCAGTGGCACTTCACAGACGCTTGCTGAA... | TAAAACCAGATAGCTAGCCAGAGACTCACGCAGTCGAAACTCCTATAGCACAGGGGTCACTTCAGTCAACCCTACATGCCACTGCAAAACTGTCTTGTGTAGAATCAAACTAGATGACAGAGATGATTTTGATAAATGAAAACACACCAAATATGTCTTCATCTGCATGAAAGTGAACCCCTGCAATGCAGAGCCTGCACCCGGGAAGCAGTAATTCTTTGAGTTTTTGCTAAGGAGGGCTCTGTACAGAATAATGTGGCAACTAGAACAGGTTACCAAAGCACCAAGCTTGCAGTGGCACTTCACAGACGCTTGCTGAA... |
Task1_train_20696 | 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 | TAAAACCAGATAGCTAGCCAGAGACTCACGCAGTCGAAACTCCTATAGCACAGGGGTCACTTCAGTCAACCCTACATGCCACTGCAAAACTGTCTTGTGTAGAATCAAACTAGATGACAGAGATGATTTTGATAAATGAAAACACACCAAATATGTCTTCATCTGCATGAAAGTGAACCCCTGCAATGCAGAGCCTGCACCCGGGAAGCAGTAATTCTTTGAGTTTTTGCTAAGGAGGGCTCTGTACAGAATAATGTGGCAACTAGAACAGGTTACCAAAGCACCAAGCTTGCAGTGGCACTTCACAGACGCTTGCTGAA... | TAAAACCAGATAGCTAGCCAGAGACTCACGCAGTCGAAACTCCTATAGCACAGGGGTCACTTCAGTCAACCCTACATGCCACTGCAAAACTGTCTTGTGTAGAATCAAACTAGATGACAGAGATGATTTTGATAAATGAAAACACACCAAATATGTCTTCATCTGCATGAAAGTGAACCCCTGCAATGCAGAGCCTGCACCCGGGAAGCAGTAATTCTTTGAGTTTTTGCTAAGGAGGGCTCTGTACAGAATAATGTGGCAACTAGAACAGGTTACCAAAGCACCAAGCTTGCAGTGGCACTTCACAGACGCTTGCTGAA... |
Task1_train_20697 | 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 | TAAAACCAGATAGCTAGCCAGAGACTCACGCAGTCGAAACTCCTATAGCACAGGGGTCACTTCAGTCAACCCTACATGCCACTGCAAAACTGTCTTGTGTAGAATCAAACTAGATGACAGAGATGATTTTGATAAATGAAAACACACCAAATATGTCTTCATCTGCATGAAAGTGAACCCCTGCAATGCAGAGCCTGCACCCGGGAAGCAGTAATTCTTTGAGTTTTTGCTAAGGAGGGCTCTGTACAGAATAATGTGGCAACTAGAACAGGTTACCAAAGCACCAAGCTTGCAGTGGCACTTCACAGACGCTTGCTGAA... | TAAAACCAGATAGCTAGCCAGAGACTCACGCAGTCGAAACTCCTATAGCACAGGGGTCACTTCAGTCAACCCTACATGCCACTGCAAAACTGTCTTGTGTAGAATCAAACTAGATGACAGAGATGATTTTGATAAATGAAAACACACCAAATATGTCTTCATCTGCATGAAAGTGAACCCCTGCAATGCAGAGCCTGCACCCGGGAAGCAGTAATTCTTTGAGTTTTTGCTAAGGAGGGCTCTGTACAGAATAATGTGGCAACTAGAACAGGTTACCAAAGCACCAAGCTTGCAGTGGCACTTCACAGACGCTTGCTGAA... |
Task1_train_20698 | 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 | AGCCAGAGACTCACGCAGTCGAAACTCCTATAGCACAGGGGTCACTTCAGTCAACCCTACATGCCACTGCAAAACTGTCTTGTGTAGAATCAAACTAGATGACAGAGATGATTTTGATAAATGAAAACACACCAAATATGTCTTCATCTGCATGAAAGTGAACCCCTGCAATGCAGAGCCTGCACCCGGGAAGCAGTAATTCTTTGAGTTTTTGCTAAGGAGGGCTCTGTACAGAATAATGTGGCAACTAGAACAGGTTACCAAAGCACCAAGCTTGCAGTGGCACTTCACAGACGCTTGCTGAATGAACATAAACAAGT... | AGCCAGAGACTCACGCAGTCGAAACTCCTATAGCACAGGGGTCACTTCAGTCAACCCTACATGCCACTGCAAAACTGTCTTGTGTAGAATCAAACTAGATGACAGAGATGATTTTGATAAATGAAAACACACCAAATATGTCTTCATCTGCATGAAAGTGAACCCCTGCAATGCAGAGCCTGCACCCGGGAAGCAGTAATTCTTTGAGTTTTTGCTAAGGAGGGCTCTGTACAGAATAATGTGGCAACTAGAACAGGTTACCAAAGCACCAAGCTTGCAGTGGCACTTCACAGACGCTTGCTGAATGAACATAAACAAGT... |
Task1_train_20699 | 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 | AGCCAGAGACTCACGCAGTCGAAACTCCTATAGCACAGGGGTCACTTCAGTCAACCCTACATGCCACTGCAAAACTGTCTTGTGTAGAATCAAACTAGATGACAGAGATGATTTTGATAAATGAAAACACACCAAATATGTCTTCATCTGCATGAAAGTGAACCCCTGCAATGCAGAGCCTGCACCCGGGAAGCAGTAATTCTTTGAGTTTTTGCTAAGGAGGGCTCTGTACAGAATAATGTGGCAACTAGAACAGGTTACCAAAGCACCAAGCTTGCAGTGGCACTTCACAGACGCTTGCTGAATGAACATAAACAAGT... | AGCCAGAGACTCACGCAGTCGAAACTCCTATAGCACAGGGGTCACTTCAGTCAACCCTACATGCCACTGCAAAACTGTCTTGTGTAGAATCAAACTAGATGACAGAGATGATTTTGATAAATGAAAACACACCAAATATGTCTTCATCTGCATGAAAGTGAACCCCTGCAATGCAGAGCCTGCACCCGGGAAGCAGTAATTCTTTGAGTTTTTGCTAAGGAGGGCTCTGTACAGAATAATGTGGCAACTAGAACAGGTTACCAAAGCACCAAGCTTGCAGTGGCACTTCACAGACGCTTGCTGAATGAACATAAACAAGT... |
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