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_25900 | Here is a mutation in KCTD1 (potassium channel tetramerization domain containing 1) on Chromosome 18. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Scalp-ear-nipple syndrome | TTTTTATTAACTTCCCTCCTGTCTCAAGGTTTAATTTACAGAAACTGAAGCAAAAGGCCATCAGACCAGACCAGTAAATCTTGCTACAGTTGAAGGTTTGCTTTTTTGTCTCTTAATATGCATTTTGTGACTTAAACCCTAGAATTAAATTCATCTAAAGAGGCAGCTGTGATTTTCTGTAGTTGATGGTGGTATTAACAGAGGGTCGGAAGGAATGGAAACAGGCATTTTCAAAAAGAACACTACTTATATAACAAAATTCTTGAAAAATAAAGCCATTATTATAATATGATTTTTCGTAGTACCTATTCCAATATACT... | TTTTTATTAACTTCCCTCCTGTCTCAAGGTTTAATTTACAGAAACTGAAGCAAAAGGCCATCAGACCAGACCAGTAAATCTTGCTACAGTTGAAGGTTTGCTTTTTTGTCTCTTAATATGCATTTTGTGACTTAAACCCTAGAATTAAATTCATCTAAAGAGGCAGCTGTGATTTTCTGTAGTTGATGGTGGTATTAACAGAGGGTCGGAAGGAATGGAAACAGGCATTTTCAAAAAGAACACTACTTATATAACAAAATTCTTGAAAAATAAAGCCATTATTATAATATGATTTTTCGTAGTACCTATTCCAATATACT... |
Task1_train_25901 | Consider this mutation in KCTD1 (potassium channel tetramerization domain containing 1) on Chromosome 18. Is this a benign change or a disease-causing variant? | Pathogenic; Scalp-ear-nipple syndrome | TTTTATTAACTTCCCTCCTGTCTCAAGGTTTAATTTACAGAAACTGAAGCAAAAGGCCATCAGACCAGACCAGTAAATCTTGCTACAGTTGAAGGTTTGCTTTTTTGTCTCTTAATATGCATTTTGTGACTTAAACCCTAGAATTAAATTCATCTAAAGAGGCAGCTGTGATTTTCTGTAGTTGATGGTGGTATTAACAGAGGGTCGGAAGGAATGGAAACAGGCATTTTCAAAAAGAACACTACTTATATAACAAAATTCTTGAAAAATAAAGCCATTATTATAATATGATTTTTCGTAGTACCTATTCCAATATACTT... | TTTTATTAACTTCCCTCCTGTCTCAAGGTTTAATTTACAGAAACTGAAGCAAAAGGCCATCAGACCAGACCAGTAAATCTTGCTACAGTTGAAGGTTTGCTTTTTTGTCTCTTAATATGCATTTTGTGACTTAAACCCTAGAATTAAATTCATCTAAAGAGGCAGCTGTGATTTTCTGTAGTTGATGGTGGTATTAACAGAGGGTCGGAAGGAATGGAAACAGGCATTTTCAAAAAGAACACTACTTATATAACAAAATTCTTGAAAAATAAAGCCATTATTATAATATGATTTTTCGTAGTACCTATTCCAATATACTT... |
Task1_train_25902 | The following genetic variant occurs in KCTD1 (potassium channel tetramerization domain containing 1) on Chromosome 18. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | TTTATTAACTTCCCTCCTGTCTCAAGGTTTAATTTACAGAAACTGAAGCAAAAGGCCATCAGACCAGACCAGTAAATCTTGCTACAGTTGAAGGTTTGCTTTTTTGTCTCTTAATATGCATTTTGTGACTTAAACCCTAGAATTAAATTCATCTAAAGAGGCAGCTGTGATTTTCTGTAGTTGATGGTGGTATTAACAGAGGGTCGGAAGGAATGGAAACAGGCATTTTCAAAAAGAACACTACTTATATAACAAAATTCTTGAAAAATAAAGCCATTATTATAATATGATTTTTCGTAGTACCTATTCCAATATACTTA... | TTTATTAACTTCCCTCCTGTCTCAAGGTTTAATTTACAGAAACTGAAGCAAAAGGCCATCAGACCAGACCAGTAAATCTTGCTACAGTTGAAGGTTTGCTTTTTTGTCTCTTAATATGCATTTTGTGACTTAAACCCTAGAATTAAATTCATCTAAAGAGGCAGCTGTGATTTTCTGTAGTTGATGGTGGTATTAACAGAGGGTCGGAAGGAATGGAAACAGGCATTTTCAAAAAGAACACTACTTATATAACAAAATTCTTGAAAAATAAAGCCATTATTATAATATGATTTTTCGTAGTACCTATTCCAATATACTTA... |
Task1_train_25903 | With a mutation on Chromosome 18 in gene KCTD1 (potassium channel tetramerization domain containing 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Scalp-ear-nipple syndrome | TAACTTCCCTCCTGTCTCAAGGTTTAATTTACAGAAACTGAAGCAAAAGGCCATCAGACCAGACCAGTAAATCTTGCTACAGTTGAAGGTTTGCTTTTTTGTCTCTTAATATGCATTTTGTGACTTAAACCCTAGAATTAAATTCATCTAAAGAGGCAGCTGTGATTTTCTGTAGTTGATGGTGGTATTAACAGAGGGTCGGAAGGAATGGAAACAGGCATTTTCAAAAAGAACACTACTTATATAACAAAATTCTTGAAAAATAAAGCCATTATTATAATATGATTTTTCGTAGTACCTATTCCAATATACTTAGGGAA... | TAACTTCCCTCCTGTCTCAAGGTTTAATTTACAGAAACTGAAGCAAAAGGCCATCAGACCAGACCAGTAAATCTTGCTACAGTTGAAGGTTTGCTTTTTTGTCTCTTAATATGCATTTTGTGACTTAAACCCTAGAATTAAATTCATCTAAAGAGGCAGCTGTGATTTTCTGTAGTTGATGGTGGTATTAACAGAGGGTCGGAAGGAATGGAAACAGGCATTTTCAAAAAGAACACTACTTATATAACAAAATTCTTGAAAAATAAAGCCATTATTATAATATGATTTTTCGTAGTACCTATTCCAATATACTTAGGGAA... |
Task1_train_25904 | A variant on Chromosome 18 in gene KCTD1 (potassium channel tetramerization domain containing 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Scalp-ear-nipple syndrome | TAACTTCCCTCCTGTCTCAAGGTTTAATTTACAGAAACTGAAGCAAAAGGCCATCAGACCAGACCAGTAAATCTTGCTACAGTTGAAGGTTTGCTTTTTTGTCTCTTAATATGCATTTTGTGACTTAAACCCTAGAATTAAATTCATCTAAAGAGGCAGCTGTGATTTTCTGTAGTTGATGGTGGTATTAACAGAGGGTCGGAAGGAATGGAAACAGGCATTTTCAAAAAGAACACTACTTATATAACAAAATTCTTGAAAAATAAAGCCATTATTATAATATGATTTTTCGTAGTACCTATTCCAATATACTTAGGGAA... | TAACTTCCCTCCTGTCTCAAGGTTTAATTTACAGAAACTGAAGCAAAAGGCCATCAGACCAGACCAGTAAATCTTGCTACAGTTGAAGGTTTGCTTTTTTGTCTCTTAATATGCATTTTGTGACTTAAACCCTAGAATTAAATTCATCTAAAGAGGCAGCTGTGATTTTCTGTAGTTGATGGTGGTATTAACAGAGGGTCGGAAGGAATGGAAACAGGCATTTTCAAAAAGAACACTACTTATATAACAAAATTCTTGAAAAATAAAGCCATTATTATAATATGATTTTTCGTAGTACCTATTCCAATATACTTAGGGAA... |
Task1_train_25905 | A variant affecting Chromosome 18, within the gene KCTD1 (potassium channel tetramerization domain containing 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Scalp-ear-nipple syndrome | TAACTTCCCTCCTGTCTCAAGGTTTAATTTACAGAAACTGAAGCAAAAGGCCATCAGACCAGACCAGTAAATCTTGCTACAGTTGAAGGTTTGCTTTTTTGTCTCTTAATATGCATTTTGTGACTTAAACCCTAGAATTAAATTCATCTAAAGAGGCAGCTGTGATTTTCTGTAGTTGATGGTGGTATTAACAGAGGGTCGGAAGGAATGGAAACAGGCATTTTCAAAAAGAACACTACTTATATAACAAAATTCTTGAAAAATAAAGCCATTATTATAATATGATTTTTCGTAGTACCTATTCCAATATACTTAGGGAA... | TAACTTCCCTCCTGTCTCAAGGTTTAATTTACAGAAACTGAAGCAAAAGGCCATCAGACCAGACCAGTAAATCTTGCTACAGTTGAAGGTTTGCTTTTTTGTCTCTTAATATGCATTTTGTGACTTAAACCCTAGAATTAAATTCATCTAAAGAGGCAGCTGTGATTTTCTGTAGTTGATGGTGGTATTAACAGAGGGTCGGAAGGAATGGAAACAGGCATTTTCAAAAAGAACACTACTTATATAACAAAATTCTTGAAAAATAAAGCCATTATTATAATATGATTTTTCGTAGTACCTATTCCAATATACTTAGGGAA... |
Task1_train_25906 | Consider this mutation in KCTD1 (potassium channel tetramerization domain containing 1) on Chromosome 18. Is this a benign change or a disease-causing variant? | Pathogenic; Scalp-ear-nipple syndrome | CTTCCCTCCTGTCTCAAGGTTTAATTTACAGAAACTGAAGCAAAAGGCCATCAGACCAGACCAGTAAATCTTGCTACAGTTGAAGGTTTGCTTTTTTGTCTCTTAATATGCATTTTGTGACTTAAACCCTAGAATTAAATTCATCTAAAGAGGCAGCTGTGATTTTCTGTAGTTGATGGTGGTATTAACAGAGGGTCGGAAGGAATGGAAACAGGCATTTTCAAAAAGAACACTACTTATATAACAAAATTCTTGAAAAATAAAGCCATTATTATAATATGATTTTTCGTAGTACCTATTCCAATATACTTAGGGAAGGT... | CTTCCCTCCTGTCTCAAGGTTTAATTTACAGAAACTGAAGCAAAAGGCCATCAGACCAGACCAGTAAATCTTGCTACAGTTGAAGGTTTGCTTTTTTGTCTCTTAATATGCATTTTGTGACTTAAACCCTAGAATTAAATTCATCTAAAGAGGCAGCTGTGATTTTCTGTAGTTGATGGTGGTATTAACAGAGGGTCGGAAGGAATGGAAACAGGCATTTTCAAAAAGAACACTACTTATATAACAAAATTCTTGAAAAATAAAGCCATTATTATAATATGATTTTTCGTAGTACCTATTCCAATATACTTAGGGAAGGT... |
Task1_train_25907 | A variant affecting Chromosome 18, within the gene KCTD1 (potassium channel tetramerization domain containing 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Scalp-ear-nipple syndrome | AAACTGAAGCAAAAGGCCATCAGACCAGACCAGTAAATCTTGCTACAGTTGAAGGTTTGCTTTTTTGTCTCTTAATATGCATTTTGTGACTTAAACCCTAGAATTAAATTCATCTAAAGAGGCAGCTGTGATTTTCTGTAGTTGATGGTGGTATTAACAGAGGGTCGGAAGGAATGGAAACAGGCATTTTCAAAAAGAACACTACTTATATAACAAAATTCTTGAAAAATAAAGCCATTATTATAATATGATTTTTCGTAGTACCTATTCCAATATACTTAGGGAAGGTGGGGACTAAATAATACTAATAGATGACTAAT... | AAACTGAAGCAAAAGGCCATCAGACCAGACCAGTAAATCTTGCTACAGTTGAAGGTTTGCTTTTTTGTCTCTTAATATGCATTTTGTGACTTAAACCCTAGAATTAAATTCATCTAAAGAGGCAGCTGTGATTTTCTGTAGTTGATGGTGGTATTAACAGAGGGTCGGAAGGAATGGAAACAGGCATTTTCAAAAAGAACACTACTTATATAACAAAATTCTTGAAAAATAAAGCCATTATTATAATATGATTTTTCGTAGTACCTATTCCAATATACTTAGGGAAGGTGGGGACTAAATAATACTAATAGATGACTAAT... |
Task1_train_25908 | Located on Chromosome 18, this mutation impacts AQP4 (aquaporin 4). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting | AAATCTCAGTGTCAAGTTGCTATTTCAAAATGAAGTCATATGTACTTTAAAGTAAAGAATCTTTATTGCTAAAAATCTAGAAAATGTGTAAAAGTATAAAGAAAACTAAAATAATATCATTACACTATACAAAAAACCCAATTAATATTTTAATGTTATTCCTAATCTTTCTACCTACAAATATACTTTAAATTAGTTCTAAATTTCATACAACCATTGCTATTTTTAGTAGAATTAAGATTGGTATAATATAACATGGGGCAACTTTTAGTTTAATCAACAAGCTAAGAATGTTCCTACTATTTAAATCTTAACTAGTT... | AAATCTCAGTGTCAAGTTGCTATTTCAAAATGAAGTCATATGTACTTTAAAGTAAAGAATCTTTATTGCTAAAAATCTAGAAAATGTGTAAAAGTATAAAGAAAACTAAAATAATATCATTACACTATACAAAAAACCCAATTAATATTTTAATGTTATTCCTAATCTTTCTACCTACAAATATACTTTAAATTAGTTCTAAATTTCATACAACCATTGCTATTTTTAGTAGAATTAAGATTGGTATAATATAACATGGGGCAACTTTTAGTTTAATCAACAAGCTAAGAATGTTCCTACTATTTAAATCTTAACTAGTT... |
Task1_train_25909 | Here’s a variant in CDH2 (cadherin 2) located on Chromosome 18. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Corpus callosum, agenesis of | CAGAGGCCGGTGCATGTTTCAGCTAAGAAAGCTAGGGGATTCCTTTGAACACTGAAATAATATTAGACTTTCATGTTTTACACTTTGCGCCAGGTCTAGAACCATAAATTTTCCAGTGAGTTGATGTTAAAATCAGCACCAATTCAGTTTCCTTCAAAATGTCAGTTACTTCTTCATTGCCATAATCCATCATGCCTAAGTCTTTCTTGATAACATTGGCATCTATGCCACATTTCAGTTGAAATGGAAACATATCCCTAGGTGCACATCTAGGAACAAATTCTATCTAAAATCTGGGGGTATCAGTTTACATCCTGAAG... | CAGAGGCCGGTGCATGTTTCAGCTAAGAAAGCTAGGGGATTCCTTTGAACACTGAAATAATATTAGACTTTCATGTTTTACACTTTGCGCCAGGTCTAGAACCATAAATTTTCCAGTGAGTTGATGTTAAAATCAGCACCAATTCAGTTTCCTTCAAAATGTCAGTTACTTCTTCATTGCCATAATCCATCATGCCTAAGTCTTTCTTGATAACATTGGCATCTATGCCACATTTCAGTTGAAATGGAAACATATCCCTAGGTGCACATCTAGGAACAAATTCTATCTAAAATCTGGGGGTATCAGTTTACATCCTGAAG... |
Task1_train_25910 | This mutation is located in gene CDH2 (cadherin 2) on Chromosome 18. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Axon pathfinding, cardiac, ocular and genital defects | CAGAGGCCGGTGCATGTTTCAGCTAAGAAAGCTAGGGGATTCCTTTGAACACTGAAATAATATTAGACTTTCATGTTTTACACTTTGCGCCAGGTCTAGAACCATAAATTTTCCAGTGAGTTGATGTTAAAATCAGCACCAATTCAGTTTCCTTCAAAATGTCAGTTACTTCTTCATTGCCATAATCCATCATGCCTAAGTCTTTCTTGATAACATTGGCATCTATGCCACATTTCAGTTGAAATGGAAACATATCCCTAGGTGCACATCTAGGAACAAATTCTATCTAAAATCTGGGGGTATCAGTTTACATCCTGAAG... | CAGAGGCCGGTGCATGTTTCAGCTAAGAAAGCTAGGGGATTCCTTTGAACACTGAAATAATATTAGACTTTCATGTTTTACACTTTGCGCCAGGTCTAGAACCATAAATTTTCCAGTGAGTTGATGTTAAAATCAGCACCAATTCAGTTTCCTTCAAAATGTCAGTTACTTCTTCATTGCCATAATCCATCATGCCTAAGTCTTTCTTGATAACATTGGCATCTATGCCACATTTCAGTTGAAATGGAAACATATCCCTAGGTGCACATCTAGGAACAAATTCTATCTAAAATCTGGGGGTATCAGTTTACATCCTGAAG... |
Task1_train_25911 | Gene CDH2 (cadherin 2), found on Chromosome 18, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Corpus callosum, agenesis of | GATTCCTTTGAACACTGAAATAATATTAGACTTTCATGTTTTACACTTTGCGCCAGGTCTAGAACCATAAATTTTCCAGTGAGTTGATGTTAAAATCAGCACCAATTCAGTTTCCTTCAAAATGTCAGTTACTTCTTCATTGCCATAATCCATCATGCCTAAGTCTTTCTTGATAACATTGGCATCTATGCCACATTTCAGTTGAAATGGAAACATATCCCTAGGTGCACATCTAGGAACAAATTCTATCTAAAATCTGGGGGTATCAGTTTACATCCTGAAGCAAAAGATTTAATGACTCCTATTGGAGCACATTTTTA... | GATTCCTTTGAACACTGAAATAATATTAGACTTTCATGTTTTACACTTTGCGCCAGGTCTAGAACCATAAATTTTCCAGTGAGTTGATGTTAAAATCAGCACCAATTCAGTTTCCTTCAAAATGTCAGTTACTTCTTCATTGCCATAATCCATCATGCCTAAGTCTTTCTTGATAACATTGGCATCTATGCCACATTTCAGTTGAAATGGAAACATATCCCTAGGTGCACATCTAGGAACAAATTCTATCTAAAATCTGGGGGTATCAGTTTACATCCTGAAGCAAAAGATTTAATGACTCCTATTGGAGCACATTTTTA... |
Task1_train_25912 | Consider this mutation in CDH2 (cadherin 2) on Chromosome 18. Is this a benign change or a disease-causing variant? | Pathogenic; Axon pathfinding, cardiac, ocular and genital defects | GATTCCTTTGAACACTGAAATAATATTAGACTTTCATGTTTTACACTTTGCGCCAGGTCTAGAACCATAAATTTTCCAGTGAGTTGATGTTAAAATCAGCACCAATTCAGTTTCCTTCAAAATGTCAGTTACTTCTTCATTGCCATAATCCATCATGCCTAAGTCTTTCTTGATAACATTGGCATCTATGCCACATTTCAGTTGAAATGGAAACATATCCCTAGGTGCACATCTAGGAACAAATTCTATCTAAAATCTGGGGGTATCAGTTTACATCCTGAAGCAAAAGATTTAATGACTCCTATTGGAGCACATTTTTA... | GATTCCTTTGAACACTGAAATAATATTAGACTTTCATGTTTTACACTTTGCGCCAGGTCTAGAACCATAAATTTTCCAGTGAGTTGATGTTAAAATCAGCACCAATTCAGTTTCCTTCAAAATGTCAGTTACTTCTTCATTGCCATAATCCATCATGCCTAAGTCTTTCTTGATAACATTGGCATCTATGCCACATTTCAGTTGAAATGGAAACATATCCCTAGGTGCACATCTAGGAACAAATTCTATCTAAAATCTGGGGGTATCAGTTTACATCCTGAAGCAAAAGATTTAATGACTCCTATTGGAGCACATTTTTA... |
Task1_train_25913 | This mutation is located in gene CDH2 (cadherin 2) on Chromosome 18. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | ACTGAAATAATATTAGACTTTCATGTTTTACACTTTGCGCCAGGTCTAGAACCATAAATTTTCCAGTGAGTTGATGTTAAAATCAGCACCAATTCAGTTTCCTTCAAAATGTCAGTTACTTCTTCATTGCCATAATCCATCATGCCTAAGTCTTTCTTGATAACATTGGCATCTATGCCACATTTCAGTTGAAATGGAAACATATCCCTAGGTGCACATCTAGGAACAAATTCTATCTAAAATCTGGGGGTATCAGTTTACATCCTGAAGCAAAAGATTTAATGACTCCTATTGGAGCACATTTTTATTATTGGCCATAA... | ACTGAAATAATATTAGACTTTCATGTTTTACACTTTGCGCCAGGTCTAGAACCATAAATTTTCCAGTGAGTTGATGTTAAAATCAGCACCAATTCAGTTTCCTTCAAAATGTCAGTTACTTCTTCATTGCCATAATCCATCATGCCTAAGTCTTTCTTGATAACATTGGCATCTATGCCACATTTCAGTTGAAATGGAAACATATCCCTAGGTGCACATCTAGGAACAAATTCTATCTAAAATCTGGGGGTATCAGTTTACATCCTGAAGCAAAAGATTTAATGACTCCTATTGGAGCACATTTTTATTATTGGCCATAA... |
Task1_train_25914 | Gene CDH2 (cadherin 2), found on Chromosome 18, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Corpus callosum, agenesis of | ACTGAAATAATATTAGACTTTCATGTTTTACACTTTGCGCCAGGTCTAGAACCATAAATTTTCCAGTGAGTTGATGTTAAAATCAGCACCAATTCAGTTTCCTTCAAAATGTCAGTTACTTCTTCATTGCCATAATCCATCATGCCTAAGTCTTTCTTGATAACATTGGCATCTATGCCACATTTCAGTTGAAATGGAAACATATCCCTAGGTGCACATCTAGGAACAAATTCTATCTAAAATCTGGGGGTATCAGTTTACATCCTGAAGCAAAAGATTTAATGACTCCTATTGGAGCACATTTTTATTATTGGCCATAA... | ACTGAAATAATATTAGACTTTCATGTTTTACACTTTGCGCCAGGTCTAGAACCATAAATTTTCCAGTGAGTTGATGTTAAAATCAGCACCAATTCAGTTTCCTTCAAAATGTCAGTTACTTCTTCATTGCCATAATCCATCATGCCTAAGTCTTTCTTGATAACATTGGCATCTATGCCACATTTCAGTTGAAATGGAAACATATCCCTAGGTGCACATCTAGGAACAAATTCTATCTAAAATCTGGGGGTATCAGTTTACATCCTGAAGCAAAAGATTTAATGACTCCTATTGGAGCACATTTTTATTATTGGCCATAA... |
Task1_train_25915 | A sequence alteration has been identified in CDH2 (cadherin 2) on Chromosome 18. Is it disease-inducing or harmless? | Pathogenic; Axon pathfinding, cardiac, ocular and genital defects | ACTGAAATAATATTAGACTTTCATGTTTTACACTTTGCGCCAGGTCTAGAACCATAAATTTTCCAGTGAGTTGATGTTAAAATCAGCACCAATTCAGTTTCCTTCAAAATGTCAGTTACTTCTTCATTGCCATAATCCATCATGCCTAAGTCTTTCTTGATAACATTGGCATCTATGCCACATTTCAGTTGAAATGGAAACATATCCCTAGGTGCACATCTAGGAACAAATTCTATCTAAAATCTGGGGGTATCAGTTTACATCCTGAAGCAAAAGATTTAATGACTCCTATTGGAGCACATTTTTATTATTGGCCATAA... | ACTGAAATAATATTAGACTTTCATGTTTTACACTTTGCGCCAGGTCTAGAACCATAAATTTTCCAGTGAGTTGATGTTAAAATCAGCACCAATTCAGTTTCCTTCAAAATGTCAGTTACTTCTTCATTGCCATAATCCATCATGCCTAAGTCTTTCTTGATAACATTGGCATCTATGCCACATTTCAGTTGAAATGGAAACATATCCCTAGGTGCACATCTAGGAACAAATTCTATCTAAAATCTGGGGGTATCAGTTTACATCCTGAAGCAAAAGATTTAATGACTCCTATTGGAGCACATTTTTATTATTGGCCATAA... |
Task1_train_25916 | Gene CDH2 (cadherin 2) on Chromosome 18 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Arrhythmogenic right ventricular dysplasia, familial, 14 | ATTTTACAATTAATTCTGTTCTGTTATGGGTTTTTTTGTTTTTGTTTTTTTTGTGAGATGCAGTCTTGCTCTGTCACCCAGGCTGGAGGGTAAGAGTGCATTGGCACGATCTCGGCTTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCCACCTCAGCCTCTTGAGTAGCTGGGATTACAGGCGTGCACCACTGCAGGCAGATAATTTTATTTTTTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGAGCCACCAGCCTTGGCCTCCCAAATTGCTAGG... | ATTTTACAATTAATTCTGTTCTGTTATGGGTTTTTTTGTTTTTGTTTTTTTTGTGAGATGCAGTCTTGCTCTGTCACCCAGGCTGGAGGGTAAGAGTGCATTGGCACGATCTCGGCTTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCCACCTCAGCCTCTTGAGTAGCTGGGATTACAGGCGTGCACCACTGCAGGCAGATAATTTTATTTTTTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGAGCCACCAGCCTTGGCCTCCCAAATTGCTAGG... |
Task1_train_25917 | This mutation is located in gene CDH2 (cadherin 2) on Chromosome 18. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | CTATCAGACCTGATCTGAGGATCAAGAAAACAATGACATTAAGTGAGAGACTAAATGAGCTCATTATCAGAGATGGGGCACATCACACTTCATGCCCTTTTTCAGCTACAAACTTATACCATCTCTCCCCAGAAAATCACTGAAACTCTCCTAGTGCCTGTTCTTCCTCTGCTTCTCAGTGACAGGCTTCAAAAGAGATGTCATCTATCACCAGAAAGACTGGAGGCAACATTAACATCTAAAAGAAAACTCACTAGGAGCAGTGCAAAAGTTCCAAATCTACAAGTGAGAGTTTTTAAACAATCAAACTCTGTCCTGGG... | CTATCAGACCTGATCTGAGGATCAAGAAAACAATGACATTAAGTGAGAGACTAAATGAGCTCATTATCAGAGATGGGGCACATCACACTTCATGCCCTTTTTCAGCTACAAACTTATACCATCTCTCCCCAGAAAATCACTGAAACTCTCCTAGTGCCTGTTCTTCCTCTGCTTCTCAGTGACAGGCTTCAAAAGAGATGTCATCTATCACCAGAAAGACTGGAGGCAACATTAACATCTAAAAGAAAACTCACTAGGAGCAGTGCAAAAGTTCCAAATCTACAAGTGAGAGTTTTTAAACAATCAAACTCTGTCCTGGG... |
Task1_train_25918 | A mutation in DSG1-AS1, DSG4 (DSG1 antisense RNA 1| desmoglein 4), located on Chromosome 18, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hypotrichosis 6 | TGTGAAAATAAAAGTTTATAGTTCAGGATTCTCTGGTATGTTGCATGTACATGTAGTCAAGTGTCCTGATCATATTTAAATTATTTGACTGTACTACAGTCTGAATTCACTGGAAAAAATTGTTTCTTTGCCTATTTTCTGATATATTTTCAAGCATGTTACTAAAATTCCTTTGGTGGAAAAAGATGGCTTTTTTCCAATTTTCCACAGATCTATTGCCGGGCTCTGAATTCACGGGGTGAAGATTTAGAAAGGCCTCTTGAGCTTAGAGTCAAAGTTATGGACATAAATGATAACGCTCCAGTCTTTTCGCAAAGTGT... | TGTGAAAATAAAAGTTTATAGTTCAGGATTCTCTGGTATGTTGCATGTACATGTAGTCAAGTGTCCTGATCATATTTAAATTATTTGACTGTACTACAGTCTGAATTCACTGGAAAAAATTGTTTCTTTGCCTATTTTCTGATATATTTTCAAGCATGTTACTAAAATTCCTTTGGTGGAAAAAGATGGCTTTTTTCCAATTTTCCACAGATCTATTGCCGGGCTCTGAATTCACGGGGTGAAGATTTAGAAAGGCCTCTTGAGCTTAGAGTCAAAGTTATGGACATAAATGATAACGCTCCAGTCTTTTCGCAAAGTGT... |
Task1_train_25919 | A mutation in DSG1-AS1, DSG4 (DSG1 antisense RNA 1| desmoglein 4), located on Chromosome 18, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hypotrichosis 6 | CCACATATTTTAATTTATAACTGAGCTAGAAAAAGAAATCATGTCTAAAATGATAAAATAAAATATCTTCTTACTTGCGGAAGGTCCCTACAGGGATTTAGCAGGTGCTTAGCACCTTGCTTAAAGATTGCTACTGGGCTCATGAAGAACTAAATCCAAGCGAGCAAACTGAGGAATAAACCAGGAATGTTTAAGAAGGCTCTGTTCTGGTCTCTTACTCAAAATGTTTGGCTGACCCACACCAGGTAGAGCGTGATGGTGGAAGCACACGCAATTGTACCCATCAGATCAATCACTAAGGGTAATCATTGATCTTCACA... | CCACATATTTTAATTTATAACTGAGCTAGAAAAAGAAATCATGTCTAAAATGATAAAATAAAATATCTTCTTACTTGCGGAAGGTCCCTACAGGGATTTAGCAGGTGCTTAGCACCTTGCTTAAAGATTGCTACTGGGCTCATGAAGAACTAAATCCAAGCGAGCAAACTGAGGAATAAACCAGGAATGTTTAAGAAGGCTCTGTTCTGGTCTCTTACTCAAAATGTTTGGCTGACCCACACCAGGTAGAGCGTGATGGTGGAAGCACACGCAATTGTACCCATCAGATCAATCACTAAGGGTAATCATTGATCTTCACA... |
Task1_train_25920 | Given this variant in gene DSG1-AS1, DSG4 (DSG1 antisense RNA 1| desmoglein 4) on Chromosome 18, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hypotrichosis 6 | ATTTAATTAAACTATAATTTTCCTTAATTAAGCATTTTTAAATGATTTCACAAGACCATGGCAAAAAATAAAACAGATAAAAATCTGTTTATTCAGCTATATGATAAAGAATCTATTGAACTTCTTTTTCGTACTTTAAAGAGAACTATGTTTAGCCACTAATTTAGTATTTAATCATTTAAGGAGTGCAAGTACTTTTAAAACAGTAAAGGGTTTTATAAAGCAAACCACATTTTTTTTAATCACTGGTAGAGCTGAAAGTTATGGTACTATATTCCCATGGAAAACTCAAACAGAGAGAATTCAGGAGAAGGCCAACC... | ATTTAATTAAACTATAATTTTCCTTAATTAAGCATTTTTAAATGATTTCACAAGACCATGGCAAAAAATAAAACAGATAAAAATCTGTTTATTCAGCTATATGATAAAGAATCTATTGAACTTCTTTTTCGTACTTTAAAGAGAACTATGTTTAGCCACTAATTTAGTATTTAATCATTTAAGGAGTGCAAGTACTTTTAAAACAGTAAAGGGTTTTATAAAGCAAACCACATTTTTTTTAATCACTGGTAGAGCTGAAAGTTATGGTACTATATTCCCATGGAAAACTCAAACAGAGAGAATTCAGGAGAAGGCCAACC... |
Task1_train_25921 | This sequence change occurs on Chromosome 18, altering DSG2 (desmoglein 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Arrhythmogenic right ventricular cardiomyopathy | TTTGTGTGTGTATAATGCACACACATCCATAGGGATGGTGGGAGTTAGCTGGGTGTGGGGTACATTACATACTGGTGGCCTCGAGGAAAAGTAAGCAGGTCCTGGAGAACACAAGATAAAAACCATAGGATGCGGAGTAAAGGATGAGAGAATGTCTAAGATTTCACAAGGCAGATTATTTTGTTTGTTTTTTAAGATACTGTTTTCTGGAGGAGTCAGTATGGATCCAGGAGAATATAGATTTCTCCTCGGGCACTTCCCATTAGGGAAGGCAATGGGAAAAATTAGTTTCCTCTTGACAAAGAATAGTAGTAGTGGTT... | TTTGTGTGTGTATAATGCACACACATCCATAGGGATGGTGGGAGTTAGCTGGGTGTGGGGTACATTACATACTGGTGGCCTCGAGGAAAAGTAAGCAGGTCCTGGAGAACACAAGATAAAAACCATAGGATGCGGAGTAAAGGATGAGAGAATGTCTAAGATTTCACAAGGCAGATTATTTTGTTTGTTTTTTAAGATACTGTTTTCTGGAGGAGTCAGTATGGATCCAGGAGAATATAGATTTCTCCTCGGGCACTTCCCATTAGGGAAGGCAATGGGAAAAATTAGTTTCCTCTTGACAAAGAATAGTAGTAGTGGTT... |
Task1_train_25922 | The gene DSG2 (desmoglein 2) on Chromosome 18 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Arrhythmogenic right ventricular dysplasia 10 | TTTGTGTGTGTATAATGCACACACATCCATAGGGATGGTGGGAGTTAGCTGGGTGTGGGGTACATTACATACTGGTGGCCTCGAGGAAAAGTAAGCAGGTCCTGGAGAACACAAGATAAAAACCATAGGATGCGGAGTAAAGGATGAGAGAATGTCTAAGATTTCACAAGGCAGATTATTTTGTTTGTTTTTTAAGATACTGTTTTCTGGAGGAGTCAGTATGGATCCAGGAGAATATAGATTTCTCCTCGGGCACTTCCCATTAGGGAAGGCAATGGGAAAAATTAGTTTCCTCTTGACAAAGAATAGTAGTAGTGGTT... | TTTGTGTGTGTATAATGCACACACATCCATAGGGATGGTGGGAGTTAGCTGGGTGTGGGGTACATTACATACTGGTGGCCTCGAGGAAAAGTAAGCAGGTCCTGGAGAACACAAGATAAAAACCATAGGATGCGGAGTAAAGGATGAGAGAATGTCTAAGATTTCACAAGGCAGATTATTTTGTTTGTTTTTTAAGATACTGTTTTCTGGAGGAGTCAGTATGGATCCAGGAGAATATAGATTTCTCCTCGGGCACTTCCCATTAGGGAAGGCAATGGGAAAAATTAGTTTCCTCTTGACAAAGAATAGTAGTAGTGGTT... |
Task1_train_25923 | A variant was discovered in gene DSG2 (desmoglein 2), Chromosome 18. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cardiovascular phenotype | TTTGTGTGTGTATAATGCACACACATCCATAGGGATGGTGGGAGTTAGCTGGGTGTGGGGTACATTACATACTGGTGGCCTCGAGGAAAAGTAAGCAGGTCCTGGAGAACACAAGATAAAAACCATAGGATGCGGAGTAAAGGATGAGAGAATGTCTAAGATTTCACAAGGCAGATTATTTTGTTTGTTTTTTAAGATACTGTTTTCTGGAGGAGTCAGTATGGATCCAGGAGAATATAGATTTCTCCTCGGGCACTTCCCATTAGGGAAGGCAATGGGAAAAATTAGTTTCCTCTTGACAAAGAATAGTAGTAGTGGTT... | TTTGTGTGTGTATAATGCACACACATCCATAGGGATGGTGGGAGTTAGCTGGGTGTGGGGTACATTACATACTGGTGGCCTCGAGGAAAAGTAAGCAGGTCCTGGAGAACACAAGATAAAAACCATAGGATGCGGAGTAAAGGATGAGAGAATGTCTAAGATTTCACAAGGCAGATTATTTTGTTTGTTTTTTAAGATACTGTTTTCTGGAGGAGTCAGTATGGATCCAGGAGAATATAGATTTCTCCTCGGGCACTTCCCATTAGGGAAGGCAATGGGAAAAATTAGTTTCCTCTTGACAAAGAATAGTAGTAGTGGTT... |
Task1_train_25924 | A mutation found in DSG2 (desmoglein 2) on Chromosome 18 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Arrhythmogenic right ventricular dysplasia 10 | AATATGAAAAATGCAAAATATGACCTTAATGTTTTTTGTGATCATTGCATGTTAAAATAATATTTTAGATATCATAGATTAAATAAAATATACTTGTTTAAAATTGTTATCATGTGTTTCTTTTTAAAATGTGGCTACTAGAAGATTTAAAATTACATAAAAACAGCACCATTCTAGGGCCTCTCCTATCAGGGTTCTGTTTACTAGAGGTTCCTAAAACATTTCTCAGTTTGCAGTTCTCTAATGAAACATTAGGAGGCTCCTCCACGGCTAGTACGTAGGAGGCAGTGAGGAAAGGGATGAAAATAGGAATCCTAGTT... | AATATGAAAAATGCAAAATATGACCTTAATGTTTTTTGTGATCATTGCATGTTAAAATAATATTTTAGATATCATAGATTAAATAAAATATACTTGTTTAAAATTGTTATCATGTGTTTCTTTTTAAAATGTGGCTACTAGAAGATTTAAAATTACATAAAAACAGCACCATTCTAGGGCCTCTCCTATCAGGGTTCTGTTTACTAGAGGTTCCTAAAACATTTCTCAGTTTGCAGTTCTCTAATGAAACATTAGGAGGCTCCTCCACGGCTAGTACGTAGGAGGCAGTGAGGAAAGGGATGAAAATAGGAATCCTAGTT... |
Task1_train_25925 | Located on Chromosome 18, this mutation impacts TTR (transthyretin). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Amyloidosis, hereditary systemic 1 | GAAGAGTCAGTAAAGAAGATTTGGTTCTCTGTATTTCAGGGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGG... | GAAGAGTCAGTAAAGAAGATTTGGTTCTCTGTATTTCAGGGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGG... |
Task1_train_25926 | This variant impacts the gene TTR (transthyretin) on Chromosome 18. Is the change likely to result in a pathogenic outcome? | Pathogenic; Cardiovascular phenotype | GAAGAGTCAGTAAAGAAGATTTGGTTCTCTGTATTTCAGGGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGG... | GAAGAGTCAGTAAAGAAGATTTGGTTCTCTGTATTTCAGGGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGG... |
Task1_train_25927 | This mutation is located in gene TTR (transthyretin) on Chromosome 18. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Amyloidosis | GAAGAGTCAGTAAAGAAGATTTGGTTCTCTGTATTTCAGGGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGG... | GAAGAGTCAGTAAAGAAGATTTGGTTCTCTGTATTTCAGGGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGG... |
Task1_train_25928 | Here is a mutation in TTR (transthyretin) on Chromosome 18. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Amyloidosis, hereditary systemic 1 | AAGAGTCAGTAAAGAAGATTTGGTTCTCTGTATTTCAGGGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGA... | AAGAGTCAGTAAAGAAGATTTGGTTCTCTGTATTTCAGGGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGA... |
Task1_train_25929 | This sequence variant lies in TTR (transthyretin) on Chromosome 18. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not specified | AAGAGTCAGTAAAGAAGATTTGGTTCTCTGTATTTCAGGGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGA... | AAGAGTCAGTAAAGAAGATTTGGTTCTCTGTATTTCAGGGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGA... |
Task1_train_25930 | This variant lies on Chromosome 18 and affects the gene TTR (transthyretin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Amyloidosis, hereditary systemic 1 | ATTTGGTTCTCTGTATTTCAGGGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTT... | ATTTGGTTCTCTGTATTTCAGGGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTT... |
Task1_train_25931 | With a mutation on Chromosome 18 in gene TTR (transthyretin), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Cardiovascular phenotype | ATTTGGTTCTCTGTATTTCAGGGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTT... | ATTTGGTTCTCTGTATTTCAGGGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTT... |
Task1_train_25932 | Consider this mutation in TTR (transthyretin) on Chromosome 18. Is this a benign change or a disease-causing variant? | Pathogenic; Amyloidosis, hereditary systemic 1 | TTTGGTTCTCTGTATTTCAGGGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTA... | TTTGGTTCTCTGTATTTCAGGGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTA... |
Task1_train_25933 | This gene mutation involves TTR (transthyretin) on Chromosome 18. Is it associated with any clinical condition, or is it benign? | Pathogenic; Cardiovascular phenotype | TTGGTTCTCTGTATTTCAGGGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAG... | TTGGTTCTCTGTATTTCAGGGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAG... |
Task1_train_25934 | The gene TTR (transthyretin) is located on Chromosome 18, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Amyloidosis, hereditary systemic 1 | TTGGTTCTCTGTATTTCAGGGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAG... | TTGGTTCTCTGTATTTCAGGGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAG... |
Task1_train_25935 | This genomic variant is located on Chromosome 18, within the TTR (transthyretin) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Amyloidosis, hereditary systemic 1 | TTCTCTGTATTTCAGGGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTG... | TTCTCTGTATTTCAGGGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTG... |
Task1_train_25936 | A genetic alteration is present in TTR (transthyretin) on Chromosome 18. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Cardiovascular phenotype | TTCTCTGTATTTCAGGGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTG... | TTCTCTGTATTTCAGGGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTG... |
Task1_train_25937 | A genetic alteration is present in TTR (transthyretin) on Chromosome 18. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Amyloidosis, hereditary systemic 1 | CAGGGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTA... | CAGGGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTA... |
Task1_train_25938 | This mutation is located in gene TTR (transthyretin) on Chromosome 18. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Cardiovascular phenotype | CAGGGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTA... | CAGGGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTA... |
Task1_train_25939 | This alteration in TTR (transthyretin) on Chromosome 18 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Amyloidosis, hereditary systemic 1 | GGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCT... | GGGCATCAATGCCAGGTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCT... |
Task1_train_25940 | Here is a variant affecting TTR (transthyretin) on Chromosome 18. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Amyloidosis, hereditary systemic 1 | GTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACAC... | GTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACAC... |
Task1_train_25941 | A variant was discovered on Chromosome 18, affecting TTR (transthyretin). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Amyloidosis, hereditary systemic 1 | GTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACAC... | GTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACAC... |
Task1_train_25942 | The following genetic variant occurs in TTR (transthyretin) on Chromosome 18. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hyperthyroxinemia, dystransthyretinemic | GTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACAC... | GTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACAC... |
Task1_train_25943 | The gene TTR (transthyretin) on Chromosome 18 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Carpal tunnel syndrome 1 | GTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACAC... | GTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACAC... |
Task1_train_25944 | Given this variant in gene TTR (transthyretin) on Chromosome 18, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Cardiomyopathy | GTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACAC... | GTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACAC... |
Task1_train_25945 | Consider this mutation in TTR (transthyretin) on Chromosome 18. Is this a benign change or a disease-causing variant? | Pathogenic; Charcot-Marie-Tooth disease | GTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACAC... | GTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACAC... |
Task1_train_25946 | A genetic alteration is present in TTR (transthyretin) on Chromosome 18. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Cardiovascular phenotype | GTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACAC... | GTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACAC... |
Task1_train_25947 | This sequence change occurs on Chromosome 18, altering TTR (transthyretin). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Charcot-Marie-Tooth disease | GTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACAC... | GTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACAC... |
Task1_train_25948 | A sequence alteration has been identified in TTR (transthyretin) on Chromosome 18. Is it disease-inducing or harmless? | Pathogenic; Amyloidosis, hereditary systemic 1 | GTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACAC... | GTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACAC... |
Task1_train_25949 | An alteration has been detected in TTR (transthyretin) on Chromosome 18. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Cardiovascular phenotype | GTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACAC... | GTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACAC... |
Task1_train_25950 | Chromosome 18 houses a mutation in gene TTR (transthyretin). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Amyloidosis, hereditary systemic 1 | GTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACAC... | GTTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACAC... |
Task1_train_25951 | A sequence alteration has been identified in TTR (transthyretin) on Chromosome 18. Is it disease-inducing or harmless? | Pathogenic; Amyloidosis, hereditary systemic 1 | TTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACA... | TTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACA... |
Task1_train_25952 | The gene TTR (transthyretin) is located on Chromosome 18, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Amyloidosis, hereditary systemic 1 | TTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACA... | TTGAAATATGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACA... |
Task1_train_25953 | Consider a variant on Chromosome 18 in gene TTR (transthyretin). Determine its clinical classification and disease relevance. | Pathogenic; Amyloidosis, hereditary systemic 1 | TGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACA... | TGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACA... |
Task1_train_25954 | Mutation context: Chromosome 18, Gene TTR (transthyretin). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Amyloidosis, hereditary systemic 1 | TGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACA... | TGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACA... |
Task1_train_25955 | The gene TTR (transthyretin) on Chromosome 18 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Cardiovascular phenotype | TGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACA... | TGCCATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACA... |
Task1_train_25956 | This is a variant in TTR (transthyretin), located on Chromosome 18. Is this mutation a likely cause of disease or not? | Pathogenic; Amyloidosis, hereditary systemic 1 | CATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACAC... | CATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACAC... |
Task1_train_25957 | A genetic alteration is present in TTR (transthyretin) on Chromosome 18. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Amyloidosis, hereditary systemic 1 | ATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACACA... | ATTCTGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACACA... |
Task1_train_25958 | This sequence change occurs on Chromosome 18, altering TTR (transthyretin). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Amyloidosis, hereditary systemic 1 | TGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACACATGCA... | TGGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACACATGCA... |
Task1_train_25959 | The gene TTR (transthyretin) is located on Chromosome 18, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Amyloidosis, hereditary systemic 1 | GGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACACATGCAC... | GGCCCAGCTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACACATGCAC... |
Task1_train_25960 | The gene TTR (transthyretin), on Chromosome 18, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Amyloidosis, hereditary systemic 1 | CTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACACATGCACACACACA... | CTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACACATGCACACACACA... |
Task1_train_25961 | This variant affects gene TTR (transthyretin) located on Chromosome 18. Evaluate its biological effect and specify any disease association. | Pathogenic; Cardiovascular phenotype | CTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACACATGCACACACACA... | CTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACACATGCACACACACA... |
Task1_train_25962 | Located on Chromosome 18, this mutation impacts TTR (transthyretin). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Amyloidosis, hereditary systemic 1 | CTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACACATGCACACACACA... | CTCAGTGGCTCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACACATGCACACACACA... |
Task1_train_25963 | A variant affecting Chromosome 18, within the gene TTR (transthyretin), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Amyloidosis, hereditary systemic 1 | TCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACACATGCACACACACATTGTGGAGA... | TCACACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACACATGCACACACACATTGTGGAGA... |
Task1_train_25964 | The gene TTR (transthyretin) on Chromosome 18 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Amyloidosis, hereditary systemic 1 | CACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACACATGCACACACACATTGTGGAGAAAT... | CACGTGTAATCCCAGCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACACATGCACACACACATTGTGGAGAAAT... |
Task1_train_25965 | A mutation found in TTR (transthyretin) on Chromosome 18 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Amyloidosis, hereditary systemic 1 | GCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACACATGCACACACACATTGTGGAGAAATTGCTGACTAAGCAA... | GCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACACATGCACACACACATTGTGGAGAAATTGCTGACTAAGCAA... |
Task1_train_25966 | A variant has been detected on Chromosome 18 in TTR (transthyretin). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Amyloidosis, hereditary systemic 1 | GCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACACATGCACACACACATTGTGGAGAAATTGCTGACTAAGCAA... | GCACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACACATGCACACACACATTGTGGAGAAATTGCTGACTAAGCAA... |
Task1_train_25967 | The gene TTR (transthyretin) on Chromosome 18 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Amyloidosis, hereditary systemic 1 | CACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACACATGCACACACACATTGTGGAGAAATTGCTGACTAAGCAAA... | CACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACACATGCACACACACATTGTGGAGAAATTGCTGACTAAGCAAA... |
Task1_train_25968 | This mutation occurs in TTR (transthyretin) on Chromosome 18. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Cardiovascular phenotype | CACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACACATGCACACACACATTGTGGAGAAATTGCTGACTAAGCAAA... | CACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACACATGCACACACACATTGTGGAGAAATTGCTGACTAAGCAAA... |
Task1_train_25969 | A genetic alteration is present in TTR (transthyretin) on Chromosome 18. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Amyloidosis, hereditary systemic 1 | CACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACACATGCACACACACATTGTGGAGAAATTGCTGACTAAGCAAA... | CACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACACATGCACACACACATTGTGGAGAAATTGCTGACTAAGCAAA... |
Task1_train_25970 | This sequence variant lies in TTR (transthyretin) on Chromosome 18. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Cardiovascular phenotype | CACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACACATGCACACACACATTGTGGAGAAATTGCTGACTAAGCAAA... | CACTTTGGAAGGCCAAAGCGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAAGAGGCTGAGGTGGGAGGATGACCTGAGCCCGGGAGGTCAAGGCTGCAGCGAGCTGTGATCGTGCCACTGCACTCGAGCCAGGGCGTTGGAGTGAGACCCTGTCAAAAAAAAAAAAAAAAAGGAAGGAAAAAAGGAAGGAAGGAAGGGAGGGAGGGAAGATGCCATTCTTAGATTGAAGTGGACTTTATCTGGGCAGAACACACACACACATACACACATGCACACACACATTGTGGAGAAATTGCTGACTAAGCAAA... |
Task1_train_25971 | Here’s a variant in TTR (transthyretin) located on Chromosome 18. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Amyloidosis, hereditary systemic 1 | TGCCCCTCACTTGGTAGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTT... | TGCCCCTCACTTGGTAGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTT... |
Task1_train_25972 | A variant on Chromosome 18 in gene TTR (transthyretin) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Amyloidosis, hereditary systemic 1 | GCCCCTCACTTGGTAGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTA... | GCCCCTCACTTGGTAGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTA... |
Task1_train_25973 | A mutation in TTR (transthyretin), located on Chromosome 18, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Amyloidosis, hereditary systemic 1 | GCCCCTCACTTGGTAGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTA... | GCCCCTCACTTGGTAGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTA... |
Task1_train_25974 | This variant lies on Chromosome 18 and affects the gene TTR (transthyretin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Amyloidosis, hereditary systemic 1 | CCTCACTTGGTAGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGA... | CCTCACTTGGTAGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGA... |
Task1_train_25975 | Mutation context: Chromosome 18, Gene TTR (transthyretin). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Amyloidosis, hereditary systemic 1 | CTCACTTGGTAGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAG... | CTCACTTGGTAGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAG... |
Task1_train_25976 | A sequence alteration has been identified in TTR (transthyretin) on Chromosome 18. Is it disease-inducing or harmless? | Pathogenic; Cardiovascular phenotype | CTCACTTGGTAGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAG... | CTCACTTGGTAGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAG... |
Task1_train_25977 | This variant impacts the gene TTR (transthyretin) on Chromosome 18. Is the change likely to result in a pathogenic outcome? | Pathogenic; Amyloidosis, hereditary systemic 1 | CTCACTTGGTAGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAG... | CTCACTTGGTAGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAG... |
Task1_train_25978 | Chromosome 18 houses a mutation in gene TTR (transthyretin). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Cardiovascular phenotype | CTCACTTGGTAGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAG... | CTCACTTGGTAGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAG... |
Task1_train_25979 | A variant has been detected on Chromosome 18 in TTR (transthyretin). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Cardiovascular phenotype | CTTGGTAGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTC... | CTTGGTAGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTC... |
Task1_train_25980 | This mutation is located in gene TTR (transthyretin) on Chromosome 18. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Amyloidosis, hereditary systemic 1 | CTTGGTAGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTC... | CTTGGTAGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTC... |
Task1_train_25981 | A sequence alteration has been identified in TTR (transthyretin) on Chromosome 18. Is it disease-inducing or harmless? | Pathogenic; Amyloidosis, hereditary systemic 1 | GTAGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAG... | GTAGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAG... |
Task1_train_25982 | This mutation occurs in TTR (transthyretin) on Chromosome 18. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Cardiovascular phenotype | AGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGAT... | AGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGAT... |
Task1_train_25983 | Here’s a variant in TTR (transthyretin) located on Chromosome 18. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Amyloidosis, hereditary systemic 1 | AGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGAT... | AGAGAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGAT... |
Task1_train_25984 | A genetic alteration is present in TTR (transthyretin) on Chromosome 18. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Amyloidosis, hereditary systemic 1 | GAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCC... | GAGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCC... |
Task1_train_25985 | This variant lies on Chromosome 18 and affects the gene TTR (transthyretin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Amyloidosis, hereditary systemic 1 | AGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCC... | AGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCC... |
Task1_train_25986 | This is a variant in TTR (transthyretin), located on Chromosome 18. Is this mutation a likely cause of disease or not? | Pathogenic; Amyloidosis, hereditary systemic 1 | AGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCC... | AGAGGCTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCC... |
Task1_train_25987 | This sequence variant lies in TTR (transthyretin) on Chromosome 18. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Amyloidosis, hereditary systemic 1 | CTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTG... | CTCACATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTG... |
Task1_train_25988 | The gene TTR (transthyretin), on Chromosome 18, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Amyloidosis, hereditary systemic 1 | CATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCC... | CATCATCTGCTAAAGAATTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCC... |
Task1_train_25989 | A change on Chromosome 18 affects gene TTR (transthyretin). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Amyloidosis, hereditary systemic 1 | TTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCCTGGGTAACACCAAAGCT... | TTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCCTGGGTAACACCAAAGCT... |
Task1_train_25990 | A mutation in TTR (transthyretin), located on Chromosome 18, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hyperthyroxinemia, dystransthyretinemic | TTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCCTGGGTAACACCAAAGCT... | TTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCCTGGGTAACACCAAAGCT... |
Task1_train_25991 | This variant impacts the gene TTR (transthyretin) on Chromosome 18. Is the change likely to result in a pathogenic outcome? | Pathogenic; Carpal tunnel syndrome | TTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCCTGGGTAACACCAAAGCT... | TTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCCTGGGTAACACCAAAGCT... |
Task1_train_25992 | Gene TTR (transthyretin) on Chromosome 18 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Amyloidosis, hereditary systemic 1 | TTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCCTGGGTAACACCAAAGCT... | TTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCCTGGGTAACACCAAAGCT... |
Task1_train_25993 | An alteration has been detected in TTR (transthyretin) on Chromosome 18. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Cardiovascular phenotype | TTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCCTGGGTAACACCAAAGCT... | TTTACAAGTAGATTGAAAAACGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCCTGGGTAACACCAAAGCT... |
Task1_train_25994 | This alteration in TTR (transthyretin) on Chromosome 18 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Amyloidosis, hereditary systemic 1 | CGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCCTGGGTAACACCAAAGCTAAGTGTCCTTGTCTTAGAAT... | CGTAGGCAGAGGTCAAGTATGCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCCTGGGTAACACCAAAGCTAAGTGTCCTTGTCTTAGAAT... |
Task1_train_25995 | Assess the clinical impact of this variant on gene TTR (transthyretin), found on Chromosome 18. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Cardiovascular phenotype | GCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCCTGGGTAACACCAAAGCTAAGTGTCCTTGTCTTAGAATTTTAGGAAAAGGTATAATGT... | GCCCTCTGAAGGATGCCCTCTTTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCCTGGGTAACACCAAAGCTAAGTGTCCTTGTCTTAGAATTTTAGGAAAAGGTATAATGT... |
Task1_train_25996 | A sequence alteration has been identified in TTR (transthyretin) on Chromosome 18. Is it disease-inducing or harmless? | Pathogenic; Amyloidosis, hereditary systemic 1 | TTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCCTGGGTAACACCAAAGCTAAGTGTCCTTGTCTTAGAATTTTAGGAAAAGGTATAATGTGTATTAACCCATTAACAAAAG... | TTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCCTGGGTAACACCAAAGCTAAGTGTCCTTGTCTTAGAATTTTAGGAAAAGGTATAATGTGTATTAACCCATTAACAAAAG... |
Task1_train_25997 | The gene TTR (transthyretin) on Chromosome 18 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Cardiovascular phenotype | TTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCCTGGGTAACACCAAAGCTAAGTGTCCTTGTCTTAGAATTTTAGGAAAAGGTATAATGTGTATTAACCCATTAACAAAAG... | TTTTGTTTTGCTTAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCCTGGGTAACACCAAAGCTAAGTGTCCTTGTCTTAGAATTTTAGGAAAAGGTATAATGTGTATTAACCCATTAACAAAAG... |
Task1_train_25998 | Located on Chromosome 18, this mutation impacts TTR (transthyretin). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Amyloidosis, hereditary systemic 1 | TAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCCTGGGTAACACCAAAGCTAAGTGTCCTTGTCTTAGAATTTTAGGAAAAGGTATAATGTGTATTAACCCATTAACAAAAGGAAAGGAATTCA... | TAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCCTGGGTAACACCAAAGCTAAGTGTCCTTGTCTTAGAATTTTAGGAAAAGGTATAATGTGTATTAACCCATTAACAAAAGGAAAGGAATTCA... |
Task1_train_25999 | This variant impacts the gene TTR (transthyretin) on Chromosome 18. Is the change likely to result in a pathogenic outcome? | Pathogenic; Cardiovascular phenotype | TAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCCTGGGTAACACCAAAGCTAAGTGTCCTTGTCTTAGAATTTTAGGAAAAGGTATAATGTGTATTAACCCATTAACAAAAGGAAAGGAATTCA... | TAGCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCCTGGGTAACACCAAAGCTAAGTGTCCTTGTCTTAGAATTTTAGGAAAAGGTATAATGTGTATTAACCCATTAACAAAAGGAAAGGAATTCA... |
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