ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
|---|---|---|---|---|
Task1_train_15400 | This alteration in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Leucine-induced hypoglycemia | GCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGG... | GCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGG... |
Task1_train_15401 | A mutation in ABCC8 (ATP binding cassette subfamily C member 8), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Type 2 diabetes mellitus | GCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGG... | GCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGG... |
Task1_train_15402 | The gene ABCC8 (ATP binding cassette subfamily C member 8) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Diabetes mellitus, permanent neonatal 3 | GCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGG... | GCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGG... |
Task1_train_15403 | A genomic change on Chromosome 11 affects ABCC8 (ATP binding cassette subfamily C member 8). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1 | CTGTATTTAACATCTCCCCTCTCAACCTGCTTCCCCCAGCTCCCATTCATACTCATGTGGGGGCCCCTGGGCTAGGGGTAGGGGGATCACCTGGATAATCCTAATGGAGCTCAGATCCCACCTTCTACAGAAAGGCAGACCTGTGACTAGTGCAAGAAACACCCTGTACTCCCTGACAACACCATGATGTCACTGGCTTAGCACAGAGTGTGCCAGACTCCAAATGTCAATTCGATGCTGTGATACCTAAAAATCAGTCTGACTTAAGGACATAGTGTGAACAAAGTCTAACTGCCAGATGTACAGCCCCAGCCTTAGAC... | CTGTATTTAACATCTCCCCTCTCAACCTGCTTCCCCCAGCTCCCATTCATACTCATGTGGGGGCCCCTGGGCTAGGGGTAGGGGGATCACCTGGATAATCCTAATGGAGCTCAGATCCCACCTTCTACAGAAAGGCAGACCTGTGACTAGTGCAAGAAACACCCTGTACTCCCTGACAACACCATGATGTCACTGGCTTAGCACAGAGTGTGCCAGACTCCAAATGTCAATTCGATGCTGTGATACCTAAAAATCAGTCTGACTTAAGGACATAGTGTGAACAAAGTCTAACTGCCAGATGTACAGCCCCAGCCTTAGAC... |
Task1_train_15404 | A genomic change on Chromosome 11 affects ABCC8 (ATP binding cassette subfamily C member 8). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1 | CTGTATTTAACATCTCCCCTCTCAACCTGCTTCCCCCAGCTCCCATTCATACTCATGTGGGGGCCCCTGGGCTAGGGGTAGGGGGATCACCTGGATAATCCTAATGGAGCTCAGATCCCACCTTCTACAGAAAGGCAGACCTGTGACTAGTGCAAGAAACACCCTGTACTCCCTGACAACACCATGATGTCACTGGCTTAGCACAGAGTGTGCCAGACTCCAAATGTCAATTCGATGCTGTGATACCTAAAAATCAGTCTGACTTAAGGACATAGTGTGAACAAAGTCTAACTGCCAGATGTACAGCCCCAGCCTTAGAC... | CTGTATTTAACATCTCCCCTCTCAACCTGCTTCCCCCAGCTCCCATTCATACTCATGTGGGGGCCCCTGGGCTAGGGGTAGGGGGATCACCTGGATAATCCTAATGGAGCTCAGATCCCACCTTCTACAGAAAGGCAGACCTGTGACTAGTGCAAGAAACACCCTGTACTCCCTGACAACACCATGATGTCACTGGCTTAGCACAGAGTGTGCCAGACTCCAAATGTCAATTCGATGCTGTGATACCTAAAAATCAGTCTGACTTAAGGACATAGTGTGAACAAAGTCTAACTGCCAGATGTACAGCCCCAGCCTTAGAC... |
Task1_train_15405 | This sequence variant lies in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Leucine-induced hypoglycemia | CTGTATTTAACATCTCCCCTCTCAACCTGCTTCCCCCAGCTCCCATTCATACTCATGTGGGGGCCCCTGGGCTAGGGGTAGGGGGATCACCTGGATAATCCTAATGGAGCTCAGATCCCACCTTCTACAGAAAGGCAGACCTGTGACTAGTGCAAGAAACACCCTGTACTCCCTGACAACACCATGATGTCACTGGCTTAGCACAGAGTGTGCCAGACTCCAAATGTCAATTCGATGCTGTGATACCTAAAAATCAGTCTGACTTAAGGACATAGTGTGAACAAAGTCTAACTGCCAGATGTACAGCCCCAGCCTTAGAC... | CTGTATTTAACATCTCCCCTCTCAACCTGCTTCCCCCAGCTCCCATTCATACTCATGTGGGGGCCCCTGGGCTAGGGGTAGGGGGATCACCTGGATAATCCTAATGGAGCTCAGATCCCACCTTCTACAGAAAGGCAGACCTGTGACTAGTGCAAGAAACACCCTGTACTCCCTGACAACACCATGATGTCACTGGCTTAGCACAGAGTGTGCCAGACTCCAAATGTCAATTCGATGCTGTGATACCTAAAAATCAGTCTGACTTAAGGACATAGTGTGAACAAAGTCTAACTGCCAGATGTACAGCCCCAGCCTTAGAC... |
Task1_train_15406 | The gene ABCC8 (ATP binding cassette subfamily C member 8) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Diabetes mellitus, transient neonatal, 2 | CTGTATTTAACATCTCCCCTCTCAACCTGCTTCCCCCAGCTCCCATTCATACTCATGTGGGGGCCCCTGGGCTAGGGGTAGGGGGATCACCTGGATAATCCTAATGGAGCTCAGATCCCACCTTCTACAGAAAGGCAGACCTGTGACTAGTGCAAGAAACACCCTGTACTCCCTGACAACACCATGATGTCACTGGCTTAGCACAGAGTGTGCCAGACTCCAAATGTCAATTCGATGCTGTGATACCTAAAAATCAGTCTGACTTAAGGACATAGTGTGAACAAAGTCTAACTGCCAGATGTACAGCCCCAGCCTTAGAC... | CTGTATTTAACATCTCCCCTCTCAACCTGCTTCCCCCAGCTCCCATTCATACTCATGTGGGGGCCCCTGGGCTAGGGGTAGGGGGATCACCTGGATAATCCTAATGGAGCTCAGATCCCACCTTCTACAGAAAGGCAGACCTGTGACTAGTGCAAGAAACACCCTGTACTCCCTGACAACACCATGATGTCACTGGCTTAGCACAGAGTGTGCCAGACTCCAAATGTCAATTCGATGCTGTGATACCTAAAAATCAGTCTGACTTAAGGACATAGTGTGAACAAAGTCTAACTGCCAGATGTACAGCCCCAGCCTTAGAC... |
Task1_train_15407 | This mutation is located in gene ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Type 2 diabetes mellitus | CTGTATTTAACATCTCCCCTCTCAACCTGCTTCCCCCAGCTCCCATTCATACTCATGTGGGGGCCCCTGGGCTAGGGGTAGGGGGATCACCTGGATAATCCTAATGGAGCTCAGATCCCACCTTCTACAGAAAGGCAGACCTGTGACTAGTGCAAGAAACACCCTGTACTCCCTGACAACACCATGATGTCACTGGCTTAGCACAGAGTGTGCCAGACTCCAAATGTCAATTCGATGCTGTGATACCTAAAAATCAGTCTGACTTAAGGACATAGTGTGAACAAAGTCTAACTGCCAGATGTACAGCCCCAGCCTTAGAC... | CTGTATTTAACATCTCCCCTCTCAACCTGCTTCCCCCAGCTCCCATTCATACTCATGTGGGGGCCCCTGGGCTAGGGGTAGGGGGATCACCTGGATAATCCTAATGGAGCTCAGATCCCACCTTCTACAGAAAGGCAGACCTGTGACTAGTGCAAGAAACACCCTGTACTCCCTGACAACACCATGATGTCACTGGCTTAGCACAGAGTGTGCCAGACTCCAAATGTCAATTCGATGCTGTGATACCTAAAAATCAGTCTGACTTAAGGACATAGTGTGAACAAAGTCTAACTGCCAGATGTACAGCCCCAGCCTTAGAC... |
Task1_train_15408 | The variant affects gene ABCC8 (ATP binding cassette subfamily C member 8), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Diabetes mellitus, permanent neonatal 3 | CTGTATTTAACATCTCCCCTCTCAACCTGCTTCCCCCAGCTCCCATTCATACTCATGTGGGGGCCCCTGGGCTAGGGGTAGGGGGATCACCTGGATAATCCTAATGGAGCTCAGATCCCACCTTCTACAGAAAGGCAGACCTGTGACTAGTGCAAGAAACACCCTGTACTCCCTGACAACACCATGATGTCACTGGCTTAGCACAGAGTGTGCCAGACTCCAAATGTCAATTCGATGCTGTGATACCTAAAAATCAGTCTGACTTAAGGACATAGTGTGAACAAAGTCTAACTGCCAGATGTACAGCCCCAGCCTTAGAC... | CTGTATTTAACATCTCCCCTCTCAACCTGCTTCCCCCAGCTCCCATTCATACTCATGTGGGGGCCCCTGGGCTAGGGGTAGGGGGATCACCTGGATAATCCTAATGGAGCTCAGATCCCACCTTCTACAGAAAGGCAGACCTGTGACTAGTGCAAGAAACACCCTGTACTCCCTGACAACACCATGATGTCACTGGCTTAGCACAGAGTGTGCCAGACTCCAAATGTCAATTCGATGCTGTGATACCTAAAAATCAGTCTGACTTAAGGACATAGTGTGAACAAAGTCTAACTGCCAGATGTACAGCCCCAGCCTTAGAC... |
Task1_train_15409 | A genomic change on Chromosome 11 affects ABCC8 (ATP binding cassette subfamily C member 8). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Type 2 diabetes mellitus | CTGTATTTAACATCTCCCCTCTCAACCTGCTTCCCCCAGCTCCCATTCATACTCATGTGGGGGCCCCTGGGCTAGGGGTAGGGGGATCACCTGGATAATCCTAATGGAGCTCAGATCCCACCTTCTACAGAAAGGCAGACCTGTGACTAGTGCAAGAAACACCCTGTACTCCCTGACAACACCATGATGTCACTGGCTTAGCACAGAGTGTGCCAGACTCCAAATGTCAATTCGATGCTGTGATACCTAAAAATCAGTCTGACTTAAGGACATAGTGTGAACAAAGTCTAACTGCCAGATGTACAGCCCCAGCCTTAGAC... | CTGTATTTAACATCTCCCCTCTCAACCTGCTTCCCCCAGCTCCCATTCATACTCATGTGGGGGCCCCTGGGCTAGGGGTAGGGGGATCACCTGGATAATCCTAATGGAGCTCAGATCCCACCTTCTACAGAAAGGCAGACCTGTGACTAGTGCAAGAAACACCCTGTACTCCCTGACAACACCATGATGTCACTGGCTTAGCACAGAGTGTGCCAGACTCCAAATGTCAATTCGATGCTGTGATACCTAAAAATCAGTCTGACTTAAGGACATAGTGTGAACAAAGTCTAACTGCCAGATGTACAGCCCCAGCCTTAGAC... |
Task1_train_15410 | A variant was discovered on Chromosome 11, affecting ABCC8 (ATP binding cassette subfamily C member 8). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Diabetes mellitus, permanent neonatal 3 | CCCCATGAAGCAGGCAAGCCAGGGACTATGATGCTTGTTTCATAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGT... | CCCCATGAAGCAGGCAAGCCAGGGACTATGATGCTTGTTTCATAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGT... |
Task1_train_15411 | A change on Chromosome 11 affects gene ABCC8 (ATP binding cassette subfamily C member 8). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Type 2 diabetes mellitus | GTTTCATAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGTCTTTCTCTGTCACCATCTGGTGAGTATTTCCCATCT... | GTTTCATAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGTCTTTCTCTGTCACCATCTGGTGAGTATTTCCCATCT... |
Task1_train_15412 | The gene ABCC8 (ATP binding cassette subfamily C member 8) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Familial hyperinsulinism | GTTTCATAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGTCTTTCTCTGTCACCATCTGGTGAGTATTTCCCATCT... | GTTTCATAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGTCTTTCTCTGTCACCATCTGGTGAGTATTTCCCATCT... |
Task1_train_15413 | A variant has been detected on Chromosome 11 in ABCC8 (ATP binding cassette subfamily C member 8). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1 | GTTTCATAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGTCTTTCTCTGTCACCATCTGGTGAGTATTTCCCATCT... | GTTTCATAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGTCTTTCTCTGTCACCATCTGGTGAGTATTTCCCATCT... |
Task1_train_15414 | This mutation is located in gene ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Leucine-induced hypoglycemia | GTTTCATAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGTCTTTCTCTGTCACCATCTGGTGAGTATTTCCCATCT... | GTTTCATAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGTCTTTCTCTGTCACCATCTGGTGAGTATTTCCCATCT... |
Task1_train_15415 | Given a variant located on Chromosome 11 and affecting ABCC8 (ATP binding cassette subfamily C member 8), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Permanent neonatal diabetes mellitus | GTTTCATAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGTCTTTCTCTGTCACCATCTGGTGAGTATTTCCCATCT... | GTTTCATAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGTCTTTCTCTGTCACCATCTGGTGAGTATTTCCCATCT... |
Task1_train_15416 | A variant was discovered in gene ABCC8 (ATP binding cassette subfamily C member 8), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Diabetes mellitus, transient neonatal, 2 | GTTTCATAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGTCTTTCTCTGTCACCATCTGGTGAGTATTTCCCATCT... | GTTTCATAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGTCTTTCTCTGTCACCATCTGGTGAGTATTTCCCATCT... |
Task1_train_15417 | This mutation is located in gene ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Type 2 diabetes mellitus | GTTTCATAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGTCTTTCTCTGTCACCATCTGGTGAGTATTTCCCATCT... | GTTTCATAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGTCTTTCTCTGTCACCATCTGGTGAGTATTTCCCATCT... |
Task1_train_15418 | This gene mutation involves ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1 | GTTTCATAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGTCTTTCTCTGTCACCATCTGGTGAGTATTTCCCATCT... | GTTTCATAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGTCTTTCTCTGTCACCATCTGGTGAGTATTTCCCATCT... |
Task1_train_15419 | The gene ABCC8 (ATP binding cassette subfamily C member 8) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Leucine-induced hypoglycemia | GTTTCATAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGTCTTTCTCTGTCACCATCTGGTGAGTATTTCCCATCT... | GTTTCATAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGTCTTTCTCTGTCACCATCTGGTGAGTATTTCCCATCT... |
Task1_train_15420 | Here’s a variant in ABCC8 (ATP binding cassette subfamily C member 8) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Diabetes mellitus, permanent neonatal 3 | GTTTCATAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGTCTTTCTCTGTCACCATCTGGTGAGTATTTCCCATCT... | GTTTCATAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGTCTTTCTCTGTCACCATCTGGTGAGTATTTCCCATCT... |
Task1_train_15421 | A sequence alteration has been identified in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Diabetes mellitus, transient neonatal, 2 | GTTTCATAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGTCTTTCTCTGTCACCATCTGGTGAGTATTTCCCATCT... | GTTTCATAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGTCTTTCTCTGTCACCATCTGGTGAGTATTTCCCATCT... |
Task1_train_15422 | This sequence change occurs on Chromosome 11, altering ABCC8 (ATP binding cassette subfamily C member 8). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Type 2 diabetes mellitus | GTTTCATAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGTCTTTCTCTGTCACCATCTGGTGAGTATTTCCCATCT... | GTTTCATAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGTCTTTCTCTGTCACCATCTGGTGAGTATTTCCCATCT... |
Task1_train_15423 | The gene ABCC8 (ATP binding cassette subfamily C member 8) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1 | GTTTCATAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGTCTTTCTCTGTCACCATCTGGTGAGTATTTCCCATCT... | GTTTCATAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGTCTTTCTCTGTCACCATCTGGTGAGTATTTCCCATCT... |
Task1_train_15424 | Here is a genetic alteration in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Type 2 diabetes mellitus | TAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGTCTTTCTCTGTCACCATCTGGTGAGTATTTCCCATCTGAGGGC... | TAAGGCCAGAGAGCAGTCATGAATGGCCACACTGGGAACAGCCAACACCCTGCCCAGGGATCTTCAAAACTCTTGCCTCTTTACTCCTTGAAATAATTTTGAAACACCTTATACTTTCTCACACATTTTTAAGTTGGCAACTAAAATGTTTTATCGTATGTTTATAAATGCTTATGAGGCCCAGAAAGCCTGAATGACTTGTGCAAAGTCCCATAGCTGGTACACAGCAGCAGTGCTCACTGAAGACCCAGGTCTTCCTTCTCCAAGGGCGGAGGTGTCTTTCTCTGTCACCATCTGGTGAGTATTTCCCATCTGAGGGC... |
Task1_train_15425 | An alteration has been detected in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Congenital isolated hyperinsulinism | CATGCAGGTCCGTGTTCCCTCTGCTCTCCTGGACTGATGGCAGGGCCTGGGACTCACTTGCGTCCAGTGCCCAGCTCAGAGAGGTTGGCACATAGAAGACACTGAGCTGCTGGATGTAGTAACAAAAGACATGGGCTTGTGGAATATAGGTGAGCTAGGATCTCCTTGGGCCTTTCAGGAAGTACCCTGGAGCAGATTCACTTTCCTGAGTCCTCAGACAGTCACTCACCCATCAGACAGGATGCCCTCTGCAATCTCACACACCAGGACGAAGAGCAGCATGAAGGTCAGGATCCACCGCAGGTTGTGCCCAGGGAAAT... | CATGCAGGTCCGTGTTCCCTCTGCTCTCCTGGACTGATGGCAGGGCCTGGGACTCACTTGCGTCCAGTGCCCAGCTCAGAGAGGTTGGCACATAGAAGACACTGAGCTGCTGGATGTAGTAACAAAAGACATGGGCTTGTGGAATATAGGTGAGCTAGGATCTCCTTGGGCCTTTCAGGAAGTACCCTGGAGCAGATTCACTTTCCTGAGTCCTCAGACAGTCACTCACCCATCAGACAGGATGCCCTCTGCAATCTCACACACCAGGACGAAGAGCAGCATGAAGGTCAGGATCCACCGCAGGTTGTGCCCAGGGAAAT... |
Task1_train_15426 | A change on Chromosome 11 affects gene ABCC8 (ATP binding cassette subfamily C member 8). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1 | CAGCTCAGAGAGGTTGGCACATAGAAGACACTGAGCTGCTGGATGTAGTAACAAAAGACATGGGCTTGTGGAATATAGGTGAGCTAGGATCTCCTTGGGCCTTTCAGGAAGTACCCTGGAGCAGATTCACTTTCCTGAGTCCTCAGACAGTCACTCACCCATCAGACAGGATGCCCTCTGCAATCTCACACACCAGGACGAAGAGCAGCATGAAGGTCAGGATCCACCGCAGGTTGTGCCCAGGGAAATGAAGCCATGTGCTGTGGTGGATGTGCACCTTGGAGCTCTGACTTCCCCATCCTGCAGGGAGAGACAGTCAG... | CAGCTCAGAGAGGTTGGCACATAGAAGACACTGAGCTGCTGGATGTAGTAACAAAAGACATGGGCTTGTGGAATATAGGTGAGCTAGGATCTCCTTGGGCCTTTCAGGAAGTACCCTGGAGCAGATTCACTTTCCTGAGTCCTCAGACAGTCACTCACCCATCAGACAGGATGCCCTCTGCAATCTCACACACCAGGACGAAGAGCAGCATGAAGGTCAGGATCCACCGCAGGTTGTGCCCAGGGAAATGAAGCCATGTGCTGTGGTGGATGTGCACCTTGGAGCTCTGACTTCCCCATCCTGCAGGGAGAGACAGTCAG... |
Task1_train_15427 | A variant was discovered in gene ABCC8 (ATP binding cassette subfamily C member 8), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Leucine-induced hypoglycemia | CAGCTCAGAGAGGTTGGCACATAGAAGACACTGAGCTGCTGGATGTAGTAACAAAAGACATGGGCTTGTGGAATATAGGTGAGCTAGGATCTCCTTGGGCCTTTCAGGAAGTACCCTGGAGCAGATTCACTTTCCTGAGTCCTCAGACAGTCACTCACCCATCAGACAGGATGCCCTCTGCAATCTCACACACCAGGACGAAGAGCAGCATGAAGGTCAGGATCCACCGCAGGTTGTGCCCAGGGAAATGAAGCCATGTGCTGTGGTGGATGTGCACCTTGGAGCTCTGACTTCCCCATCCTGCAGGGAGAGACAGTCAG... | CAGCTCAGAGAGGTTGGCACATAGAAGACACTGAGCTGCTGGATGTAGTAACAAAAGACATGGGCTTGTGGAATATAGGTGAGCTAGGATCTCCTTGGGCCTTTCAGGAAGTACCCTGGAGCAGATTCACTTTCCTGAGTCCTCAGACAGTCACTCACCCATCAGACAGGATGCCCTCTGCAATCTCACACACCAGGACGAAGAGCAGCATGAAGGTCAGGATCCACCGCAGGTTGTGCCCAGGGAAATGAAGCCATGTGCTGTGGTGGATGTGCACCTTGGAGCTCTGACTTCCCCATCCTGCAGGGAGAGACAGTCAG... |
Task1_train_15428 | A mutation found in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Diabetes mellitus, permanent neonatal 3 | CAGCTCAGAGAGGTTGGCACATAGAAGACACTGAGCTGCTGGATGTAGTAACAAAAGACATGGGCTTGTGGAATATAGGTGAGCTAGGATCTCCTTGGGCCTTTCAGGAAGTACCCTGGAGCAGATTCACTTTCCTGAGTCCTCAGACAGTCACTCACCCATCAGACAGGATGCCCTCTGCAATCTCACACACCAGGACGAAGAGCAGCATGAAGGTCAGGATCCACCGCAGGTTGTGCCCAGGGAAATGAAGCCATGTGCTGTGGTGGATGTGCACCTTGGAGCTCTGACTTCCCCATCCTGCAGGGAGAGACAGTCAG... | CAGCTCAGAGAGGTTGGCACATAGAAGACACTGAGCTGCTGGATGTAGTAACAAAAGACATGGGCTTGTGGAATATAGGTGAGCTAGGATCTCCTTGGGCCTTTCAGGAAGTACCCTGGAGCAGATTCACTTTCCTGAGTCCTCAGACAGTCACTCACCCATCAGACAGGATGCCCTCTGCAATCTCACACACCAGGACGAAGAGCAGCATGAAGGTCAGGATCCACCGCAGGTTGTGCCCAGGGAAATGAAGCCATGTGCTGTGGTGGATGTGCACCTTGGAGCTCTGACTTCCCCATCCTGCAGGGAGAGACAGTCAG... |
Task1_train_15429 | Consider this mutation in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Diabetes mellitus, transient neonatal, 2 | CAGCTCAGAGAGGTTGGCACATAGAAGACACTGAGCTGCTGGATGTAGTAACAAAAGACATGGGCTTGTGGAATATAGGTGAGCTAGGATCTCCTTGGGCCTTTCAGGAAGTACCCTGGAGCAGATTCACTTTCCTGAGTCCTCAGACAGTCACTCACCCATCAGACAGGATGCCCTCTGCAATCTCACACACCAGGACGAAGAGCAGCATGAAGGTCAGGATCCACCGCAGGTTGTGCCCAGGGAAATGAAGCCATGTGCTGTGGTGGATGTGCACCTTGGAGCTCTGACTTCCCCATCCTGCAGGGAGAGACAGTCAG... | CAGCTCAGAGAGGTTGGCACATAGAAGACACTGAGCTGCTGGATGTAGTAACAAAAGACATGGGCTTGTGGAATATAGGTGAGCTAGGATCTCCTTGGGCCTTTCAGGAAGTACCCTGGAGCAGATTCACTTTCCTGAGTCCTCAGACAGTCACTCACCCATCAGACAGGATGCCCTCTGCAATCTCACACACCAGGACGAAGAGCAGCATGAAGGTCAGGATCCACCGCAGGTTGTGCCCAGGGAAATGAAGCCATGTGCTGTGGTGGATGTGCACCTTGGAGCTCTGACTTCCCCATCCTGCAGGGAGAGACAGTCAG... |
Task1_train_15430 | A variant was discovered on Chromosome 11, affecting ABCC8 (ATP binding cassette subfamily C member 8). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Type 2 diabetes mellitus | CAGCTCAGAGAGGTTGGCACATAGAAGACACTGAGCTGCTGGATGTAGTAACAAAAGACATGGGCTTGTGGAATATAGGTGAGCTAGGATCTCCTTGGGCCTTTCAGGAAGTACCCTGGAGCAGATTCACTTTCCTGAGTCCTCAGACAGTCACTCACCCATCAGACAGGATGCCCTCTGCAATCTCACACACCAGGACGAAGAGCAGCATGAAGGTCAGGATCCACCGCAGGTTGTGCCCAGGGAAATGAAGCCATGTGCTGTGGTGGATGTGCACCTTGGAGCTCTGACTTCCCCATCCTGCAGGGAGAGACAGTCAG... | CAGCTCAGAGAGGTTGGCACATAGAAGACACTGAGCTGCTGGATGTAGTAACAAAAGACATGGGCTTGTGGAATATAGGTGAGCTAGGATCTCCTTGGGCCTTTCAGGAAGTACCCTGGAGCAGATTCACTTTCCTGAGTCCTCAGACAGTCACTCACCCATCAGACAGGATGCCCTCTGCAATCTCACACACCAGGACGAAGAGCAGCATGAAGGTCAGGATCCACCGCAGGTTGTGCCCAGGGAAATGAAGCCATGTGCTGTGGTGGATGTGCACCTTGGAGCTCTGACTTCCCCATCCTGCAGGGAGAGACAGTCAG... |
Task1_train_15431 | A variant found in Chromosome 11 affects OTOG (otogelin). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 18B | GCTCTGCCCCCAGAGACCCCAGCTGCCGCCAGCCTGTCAACAGCCACTGATGGGCTGGCAGCCACACCCTTCATGTCCCTTGAGTCAACTCGTCCCTCCCAGCTCCTCTCTGGCCTGCCTCCCGACACCAGCCTGCCCCTGGCCAAGGTGGGCACATCTGCCCCAGTGGCCACACCCGGCCCCAAAGCCTCTGTCATCACCACTCCACTCCAGCCACAGGCCACGACTCTGCCTGCTCAGACACTTAGCCCAGTACTGCCTTTCACTCCAGCAGCAATGACCCAGGCGCACCCACCCACTCACATAGCACCCCCAGCAGC... | GCTCTGCCCCCAGAGACCCCAGCTGCCGCCAGCCTGTCAACAGCCACTGATGGGCTGGCAGCCACACCCTTCATGTCCCTTGAGTCAACTCGTCCCTCCCAGCTCCTCTCTGGCCTGCCTCCCGACACCAGCCTGCCCCTGGCCAAGGTGGGCACATCTGCCCCAGTGGCCACACCCGGCCCCAAAGCCTCTGTCATCACCACTCCACTCCAGCCACAGGCCACGACTCTGCCTGCTCAGACACTTAGCCCAGTACTGCCTTTCACTCCAGCAGCAATGACCCAGGCGCACCCACCCACTCACATAGCACCCCCAGCAGC... |
Task1_train_15432 | This is a variant in HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Hermansky-Pudlak syndrome 5 | TTGAATTAAAGCAGATCTGTAACTATAGATCCATGTTTCTAGAAAGCTAAAATATCTTTAAGTAAGATGACATAAAAATGTATCTCTATTCACTTTTGGTAATGAATGAAAAGTTGCTTAAAGTCTAAAGTATTAGAAATATGGCATCTGTTATTCAAGTAGGATTTGGAATTAAGAAAATTCACTTCTTCAAAAACATGGGACTATGGCTGCAGAAAGGGCAATGCATATAGTTTTTAGGGTATGATAGCTGGTTTCTATTATATGTCAGGATGACATATGCGACCTTCCGCCAAGGTAGATACTGCGGGCTATGCACC... | TTGAATTAAAGCAGATCTGTAACTATAGATCCATGTTTCTAGAAAGCTAAAATATCTTTAAGTAAGATGACATAAAAATGTATCTCTATTCACTTTTGGTAATGAATGAAAAGTTGCTTAAAGTCTAAAGTATTAGAAATATGGCATCTGTTATTCAAGTAGGATTTGGAATTAAGAAAATTCACTTCTTCAAAAACATGGGACTATGGCTGCAGAAAGGGCAATGCATATAGTTTTTAGGGTATGATAGCTGGTTTCTATTATATGTCAGGATGACATATGCGACCTTCCGCCAAGGTAGATACTGCGGGCTATGCACC... |
Task1_train_15433 | A mutation in HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hermansky-Pudlak syndrome 5 | AAGTGTTATAATGTCTATAATTCACTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCTACCTTCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTACTAGCTGGGATTACAGGAGCATGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGATAGGCTAGTCTTGAACTCCCGACCTCAGAAGATCTGTCCGCCTCGGTCTCCCAAATTGCTGGGATTACAGGCATGAGCCACACCCGGC... | AAGTGTTATAATGTCTATAATTCACTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCTACCTTCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTACTAGCTGGGATTACAGGAGCATGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGATAGGCTAGTCTTGAACTCCCGACCTCAGAAGATCTGTCCGCCTCGGTCTCCCAAATTGCTGGGATTACAGGCATGAGCCACACCCGGC... |
Task1_train_15434 | A variant was discovered on Chromosome 11, affecting CSRP3 (cysteine and glycine rich protein 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Primary dilated cardiomyopathy | ACTAAAAATACAAGAAATTAGCTGGGCATGGTGGCATGTACTTCTGATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGGCTGAAGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCTTGGATGACAGAGCAAGACTCCGTCTCAAGAATAAAAATAATAAAAAGGTTTATGCATGAGCTAACTTTTTAAAATAAATTTAACAATACTTATCTTAGATCTGTTAATAAAAATTGTTTACACTTCTTGCCACTTTACTAAATGTGTTTGCAGATATTTTCTCATTTGAGGATTGCCTGC... | ACTAAAAATACAAGAAATTAGCTGGGCATGGTGGCATGTACTTCTGATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGGCTGAAGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCTTGGATGACAGAGCAAGACTCCGTCTCAAGAATAAAAATAATAAAAAGGTTTATGCATGAGCTAACTTTTTAAAATAAATTTAACAATACTTATCTTAGATCTGTTAATAAAAATTGTTTACACTTCTTGCCACTTTACTAAATGTGTTTGCAGATATTTTCTCATTTGAGGATTGCCTGC... |
Task1_train_15435 | Here is a variant affecting SLC6A5 (solute carrier family 6 member 5) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hyperekplexia 3 | AGGTTCCCGTTTGGTTTTCCGCAGGGCGCCCTCAGGCCAGGATGCTACAACAGGGCTTCCAGTGACTAGAAGGGGAGTGGGTTATCAGGGTAGTGGATGGGGAGGGAGTTCCAGCAAAAGGAGGTTGGCCCGCGCAAGTGCCCGCGCTTTGCCCGCCCGGGATCTGCGAAGAGCGGCGGGGCAGATCTCAGGGTTCCGGAGGAGCCAGGCTCTGTGATGCGAGGCAGCCTGTTCCACACTGCGGCTCGAGGCCCCTCAGCCCTCAGTGCGGGGTGGAGGGCTCGCCGCTCCTTTTCAGGAGCAGAGGAGGACTGCACAAT... | AGGTTCCCGTTTGGTTTTCCGCAGGGCGCCCTCAGGCCAGGATGCTACAACAGGGCTTCCAGTGACTAGAAGGGGAGTGGGTTATCAGGGTAGTGGATGGGGAGGGAGTTCCAGCAAAAGGAGGTTGGCCCGCGCAAGTGCCCGCGCTTTGCCCGCCCGGGATCTGCGAAGAGCGGCGGGGCAGATCTCAGGGTTCCGGAGGAGCCAGGCTCTGTGATGCGAGGCAGCCTGTTCCACACTGCGGCTCGAGGCCCCTCAGCCCTCAGTGCGGGGTGGAGGGCTCGCCGCTCCTTTTCAGGAGCAGAGGAGGACTGCACAAT... |
Task1_train_15436 | A mutation in SLC6A5 (solute carrier family 6 member 5), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hyperekplexia 3 | TGAACCAATAGCCGTCACCCCATGGATCCCGAGAGCCCAGAGTGGGCCTGGATGGGAGCTTAACCTCAGCCTCTCAAGTGTCTTTTAATGCACTTTTAATGTAGCCTACCTGTGAGTCGAGCGCTGTCAGTGTGATTAAGTTGAGGACTGGGGAGTCCTAGGCCAGACTGTGAAATGGTACTTCTGTTTCCAGTGCCCTGGGCCTGTTCCACTTTGTGTGGATTGTAAGTGACACTGTACTCTTCCAATAGCCCCATGAAGAATCTACTATTGTTGCCACTTTGCAGGTGTGGACACTGAGGGTCAGAGACTCAGAGAGG... | TGAACCAATAGCCGTCACCCCATGGATCCCGAGAGCCCAGAGTGGGCCTGGATGGGAGCTTAACCTCAGCCTCTCAAGTGTCTTTTAATGCACTTTTAATGTAGCCTACCTGTGAGTCGAGCGCTGTCAGTGTGATTAAGTTGAGGACTGGGGAGTCCTAGGCCAGACTGTGAAATGGTACTTCTGTTTCCAGTGCCCTGGGCCTGTTCCACTTTGTGTGGATTGTAAGTGACACTGTACTCTTCCAATAGCCCCATGAAGAATCTACTATTGTTGCCACTTTGCAGGTGTGGACACTGAGGGTCAGAGACTCAGAGAGG... |
Task1_train_15437 | This gene mutation involves SLC6A5 (solute carrier family 6 member 5) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Exaggerated startle response | CAGCTGATGCCTGGCATAGTGCCCAGCTCATAGGAGGCCCTCAATAAATATTTGTTGAACTTAATGTCATTTAATGACCTGCTGTTATAAATCAGGCACCATGCTAGGTCCTATCCATGCATTAGCTCATTGAATCCTCACGATTATCTGTAAGAAAGGTGCTATTATCCTTGATTTACAGATACTGAAACTAAGATTCAGAGAGCTTAATAAATGTCTAAGGTCACACAGCTAGTCAGTGCCAGATGTACAGTTTCATTTGAACCTAAATGCGTCTAATTCTAATATCATGTTCTTCTGACCTTATGGGACTGCCTCAC... | CAGCTGATGCCTGGCATAGTGCCCAGCTCATAGGAGGCCCTCAATAAATATTTGTTGAACTTAATGTCATTTAATGACCTGCTGTTATAAATCAGGCACCATGCTAGGTCCTATCCATGCATTAGCTCATTGAATCCTCACGATTATCTGTAAGAAAGGTGCTATTATCCTTGATTTACAGATACTGAAACTAAGATTCAGAGAGCTTAATAAATGTCTAAGGTCACACAGCTAGTCAGTGCCAGATGTACAGTTTCATTTGAACCTAAATGCGTCTAATTCTAATATCATGTTCTTCTGACCTTATGGGACTGCCTCAC... |
Task1_train_15438 | This variant impacts the gene SLC6A5 (solute carrier family 6 member 5) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hyperekplexia 3 | ATAGTGCCCAGCTCATAGGAGGCCCTCAATAAATATTTGTTGAACTTAATGTCATTTAATGACCTGCTGTTATAAATCAGGCACCATGCTAGGTCCTATCCATGCATTAGCTCATTGAATCCTCACGATTATCTGTAAGAAAGGTGCTATTATCCTTGATTTACAGATACTGAAACTAAGATTCAGAGAGCTTAATAAATGTCTAAGGTCACACAGCTAGTCAGTGCCAGATGTACAGTTTCATTTGAACCTAAATGCGTCTAATTCTAATATCATGTTCTTCTGACCTTATGGGACTGCCTCACTTAGGTATGTGTATA... | ATAGTGCCCAGCTCATAGGAGGCCCTCAATAAATATTTGTTGAACTTAATGTCATTTAATGACCTGCTGTTATAAATCAGGCACCATGCTAGGTCCTATCCATGCATTAGCTCATTGAATCCTCACGATTATCTGTAAGAAAGGTGCTATTATCCTTGATTTACAGATACTGAAACTAAGATTCAGAGAGCTTAATAAATGTCTAAGGTCACACAGCTAGTCAGTGCCAGATGTACAGTTTCATTTGAACCTAAATGCGTCTAATTCTAATATCATGTTCTTCTGACCTTATGGGACTGCCTCACTTAGGTATGTGTATA... |
Task1_train_15439 | Here’s a variant in SLC6A5 (solute carrier family 6 member 5) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hyperekplexia 3 | AGACTATGGTATTTAAACTTCATTAGTCACAACTGCTCATTAACCATTGACCCAAATCAGTCTGAACACCATTAAAGGGTGAAGCATTGCTATCTTCTTTATTAGAAATGAGGCTGTGGTGTGGCAGAAATAACCCAGGCTGAGAGCTTGAAAATCTAGATTCATATCCTGGCCCACACTATTAATTAGTCCATTACCTTTCCCTGGGCCTCAGTTTCCTCTTCAGTAAACTAAGGGGTCAGACAAGGTGGATCATTTGCTGCACACTTGCTCTGTGCTAGGCGGTGCATAGTACAGGTATCATCTCATTCTCTCCTGGC... | AGACTATGGTATTTAAACTTCATTAGTCACAACTGCTCATTAACCATTGACCCAAATCAGTCTGAACACCATTAAAGGGTGAAGCATTGCTATCTTCTTTATTAGAAATGAGGCTGTGGTGTGGCAGAAATAACCCAGGCTGAGAGCTTGAAAATCTAGATTCATATCCTGGCCCACACTATTAATTAGTCCATTACCTTTCCCTGGGCCTCAGTTTCCTCTTCAGTAAACTAAGGGGTCAGACAAGGTGGATCATTTGCTGCACACTTGCTCTGTGCTAGGCGGTGCATAGTACAGGTATCATCTCATTCTCTCCTGGC... |
Task1_train_15440 | A variant found in Chromosome 11 affects SLC6A5 (solute carrier family 6 member 5). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hyperekplexia 3 | TATGGTATTTAAACTTCATTAGTCACAACTGCTCATTAACCATTGACCCAAATCAGTCTGAACACCATTAAAGGGTGAAGCATTGCTATCTTCTTTATTAGAAATGAGGCTGTGGTGTGGCAGAAATAACCCAGGCTGAGAGCTTGAAAATCTAGATTCATATCCTGGCCCACACTATTAATTAGTCCATTACCTTTCCCTGGGCCTCAGTTTCCTCTTCAGTAAACTAAGGGGTCAGACAAGGTGGATCATTTGCTGCACACTTGCTCTGTGCTAGGCGGTGCATAGTACAGGTATCATCTCATTCTCTCCTGGCAACA... | TATGGTATTTAAACTTCATTAGTCACAACTGCTCATTAACCATTGACCCAAATCAGTCTGAACACCATTAAAGGGTGAAGCATTGCTATCTTCTTTATTAGAAATGAGGCTGTGGTGTGGCAGAAATAACCCAGGCTGAGAGCTTGAAAATCTAGATTCATATCCTGGCCCACACTATTAATTAGTCCATTACCTTTCCCTGGGCCTCAGTTTCCTCTTCAGTAAACTAAGGGGTCAGACAAGGTGGATCATTTGCTGCACACTTGCTCTGTGCTAGGCGGTGCATAGTACAGGTATCATCTCATTCTCTCCTGGCAACA... |
Task1_train_15441 | Located on Chromosome 11, this mutation impacts ANO5 (anoctamin 5). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Gnathodiaphyseal dysplasia | AAGTAGTACTTTAAAACTAAGATTGTTGAAATATCCAGTTTCCTTATGAATACTTAAAGAATTTTTAAGTTAAGTCTATAGCAATAATGTTGATATTATATTTCTAATAACATTGATTCTGCCATTTTTAAAACATTAAAAATAGACATGGTAAACAGTAAATTTCATAAAATATATTTTTGTACTTTTTCTGATTTTGATGTCATGTACTATTACAATAATTTCTACATTTTTCAGAAAAAAACTGGGAGAAAAAGTTCATTCACTCTGAGTAAGCTAAGGAAGTTGTGAATGGCAGATTAGCAAGGGAATATGATGGC... | AAGTAGTACTTTAAAACTAAGATTGTTGAAATATCCAGTTTCCTTATGAATACTTAAAGAATTTTTAAGTTAAGTCTATAGCAATAATGTTGATATTATATTTCTAATAACATTGATTCTGCCATTTTTAAAACATTAAAAATAGACATGGTAAACAGTAAATTTCATAAAATATATTTTTGTACTTTTTCTGATTTTGATGTCATGTACTATTACAATAATTTCTACATTTTTCAGAAAAAAACTGGGAGAAAAAGTTCATTCACTCTGAGTAAGCTAAGGAAGTTGTGAATGGCAGATTAGCAAGGGAATATGATGGC... |
Task1_train_15442 | Consider this mutation in ANO5 (anoctamin 5) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Gnathodiaphyseal dysplasia | AAGTAGTACTTTAAAACTAAGATTGTTGAAATATCCAGTTTCCTTATGAATACTTAAAGAATTTTTAAGTTAAGTCTATAGCAATAATGTTGATATTATATTTCTAATAACATTGATTCTGCCATTTTTAAAACATTAAAAATAGACATGGTAAACAGTAAATTTCATAAAATATATTTTTGTACTTTTTCTGATTTTGATGTCATGTACTATTACAATAATTTCTACATTTTTCAGAAAAAAACTGGGAGAAAAAGTTCATTCACTCTGAGTAAGCTAAGGAAGTTGTGAATGGCAGATTAGCAAGGGAATATGATGGC... | AAGTAGTACTTTAAAACTAAGATTGTTGAAATATCCAGTTTCCTTATGAATACTTAAAGAATTTTTAAGTTAAGTCTATAGCAATAATGTTGATATTATATTTCTAATAACATTGATTCTGCCATTTTTAAAACATTAAAAATAGACATGGTAAACAGTAAATTTCATAAAATATATTTTTGTACTTTTTCTGATTTTGATGTCATGTACTATTACAATAATTTCTACATTTTTCAGAAAAAAACTGGGAGAAAAAGTTCATTCACTCTGAGTAAGCTAAGGAAGTTGTGAATGGCAGATTAGCAAGGGAATATGATGGC... |
Task1_train_15443 | This variant lies on Chromosome 11 and affects the gene ANO5 (anoctamin 5). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Gnathodiaphyseal dysplasia | AAAACTAAGATTGTTGAAATATCCAGTTTCCTTATGAATACTTAAAGAATTTTTAAGTTAAGTCTATAGCAATAATGTTGATATTATATTTCTAATAACATTGATTCTGCCATTTTTAAAACATTAAAAATAGACATGGTAAACAGTAAATTTCATAAAATATATTTTTGTACTTTTTCTGATTTTGATGTCATGTACTATTACAATAATTTCTACATTTTTCAGAAAAAAACTGGGAGAAAAAGTTCATTCACTCTGAGTAAGCTAAGGAAGTTGTGAATGGCAGATTAGCAAGGGAATATGATGGCATTATAATTTAA... | AAAACTAAGATTGTTGAAATATCCAGTTTCCTTATGAATACTTAAAGAATTTTTAAGTTAAGTCTATAGCAATAATGTTGATATTATATTTCTAATAACATTGATTCTGCCATTTTTAAAACATTAAAAATAGACATGGTAAACAGTAAATTTCATAAAATATATTTTTGTACTTTTTCTGATTTTGATGTCATGTACTATTACAATAATTTCTACATTTTTCAGAAAAAAACTGGGAGAAAAAGTTCATTCACTCTGAGTAAGCTAAGGAAGTTGTGAATGGCAGATTAGCAAGGGAATATGATGGCATTATAATTTAA... |
Task1_train_15444 | A variant was discovered on Chromosome 11, affecting ANO5 (anoctamin 5). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy | AGTTTTAGCAGTATGTATATGACATCCAATCTCTTGCATAGCCATAGTAACCAAATACTGCTTCTAAAATTAATGGTAGTTGTTCTATTGTAGTATAAACAAACAAGCAAATATTAAAATGTTTAATAGTACCAAGTTCATGAAACTGTTCTCCCTGCTAACAATGTATCTACTGCATACAGCAGTAATGAAATGAGTAGAGTAGAAGTTTCTGCCTTACGAAATTCACAACCAATATTAAATGATAGAATGAATAAGTGAATGAAATATAACCTGTTGTTAAGAAAGTTACAATCTAATTGGGTTAGAATCTGAAGTCT... | AGTTTTAGCAGTATGTATATGACATCCAATCTCTTGCATAGCCATAGTAACCAAATACTGCTTCTAAAATTAATGGTAGTTGTTCTATTGTAGTATAAACAAACAAGCAAATATTAAAATGTTTAATAGTACCAAGTTCATGAAACTGTTCTCCCTGCTAACAATGTATCTACTGCATACAGCAGTAATGAAATGAGTAGAGTAGAAGTTTCTGCCTTACGAAATTCACAACCAATATTAAATGATAGAATGAATAAGTGAATGAAATATAACCTGTTGTTAAGAAAGTTACAATCTAATTGGGTTAGAATCTGAAGTCT... |
Task1_train_15445 | A mutation on Chromosome 11 affecting ANO5 (anoctamin 5) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2L | AGTTTTAGCAGTATGTATATGACATCCAATCTCTTGCATAGCCATAGTAACCAAATACTGCTTCTAAAATTAATGGTAGTTGTTCTATTGTAGTATAAACAAACAAGCAAATATTAAAATGTTTAATAGTACCAAGTTCATGAAACTGTTCTCCCTGCTAACAATGTATCTACTGCATACAGCAGTAATGAAATGAGTAGAGTAGAAGTTTCTGCCTTACGAAATTCACAACCAATATTAAATGATAGAATGAATAAGTGAATGAAATATAACCTGTTGTTAAGAAAGTTACAATCTAATTGGGTTAGAATCTGAAGTCT... | AGTTTTAGCAGTATGTATATGACATCCAATCTCTTGCATAGCCATAGTAACCAAATACTGCTTCTAAAATTAATGGTAGTTGTTCTATTGTAGTATAAACAAACAAGCAAATATTAAAATGTTTAATAGTACCAAGTTCATGAAACTGTTCTCCCTGCTAACAATGTATCTACTGCATACAGCAGTAATGAAATGAGTAGAGTAGAAGTTTCTGCCTTACGAAATTCACAACCAATATTAAATGATAGAATGAATAAGTGAATGAAATATAACCTGTTGTTAAGAAAGTTACAATCTAATTGGGTTAGAATCTGAAGTCT... |
Task1_train_15446 | This mutation occurs in ANO5 (anoctamin 5) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Gnathodiaphyseal dysplasia | AGTTTTAGCAGTATGTATATGACATCCAATCTCTTGCATAGCCATAGTAACCAAATACTGCTTCTAAAATTAATGGTAGTTGTTCTATTGTAGTATAAACAAACAAGCAAATATTAAAATGTTTAATAGTACCAAGTTCATGAAACTGTTCTCCCTGCTAACAATGTATCTACTGCATACAGCAGTAATGAAATGAGTAGAGTAGAAGTTTCTGCCTTACGAAATTCACAACCAATATTAAATGATAGAATGAATAAGTGAATGAAATATAACCTGTTGTTAAGAAAGTTACAATCTAATTGGGTTAGAATCTGAAGTCT... | AGTTTTAGCAGTATGTATATGACATCCAATCTCTTGCATAGCCATAGTAACCAAATACTGCTTCTAAAATTAATGGTAGTTGTTCTATTGTAGTATAAACAAACAAGCAAATATTAAAATGTTTAATAGTACCAAGTTCATGAAACTGTTCTCCCTGCTAACAATGTATCTACTGCATACAGCAGTAATGAAATGAGTAGAGTAGAAGTTTCTGCCTTACGAAATTCACAACCAATATTAAATGATAGAATGAATAAGTGAATGAAATATAACCTGTTGTTAAGAAAGTTACAATCTAATTGGGTTAGAATCTGAAGTCT... |
Task1_train_15447 | This variant affects the gene ANO5 (anoctamin 5) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2L | AGTTTTAGCAGTATGTATATGACATCCAATCTCTTGCATAGCCATAGTAACCAAATACTGCTTCTAAAATTAATGGTAGTTGTTCTATTGTAGTATAAACAAACAAGCAAATATTAAAATGTTTAATAGTACCAAGTTCATGAAACTGTTCTCCCTGCTAACAATGTATCTACTGCATACAGCAGTAATGAAATGAGTAGAGTAGAAGTTTCTGCCTTACGAAATTCACAACCAATATTAAATGATAGAATGAATAAGTGAATGAAATATAACCTGTTGTTAAGAAAGTTACAATCTAATTGGGTTAGAATCTGAAGTCT... | AGTTTTAGCAGTATGTATATGACATCCAATCTCTTGCATAGCCATAGTAACCAAATACTGCTTCTAAAATTAATGGTAGTTGTTCTATTGTAGTATAAACAAACAAGCAAATATTAAAATGTTTAATAGTACCAAGTTCATGAAACTGTTCTCCCTGCTAACAATGTATCTACTGCATACAGCAGTAATGAAATGAGTAGAGTAGAAGTTTCTGCCTTACGAAATTCACAACCAATATTAAATGATAGAATGAATAAGTGAATGAAATATAACCTGTTGTTAAGAAAGTTACAATCTAATTGGGTTAGAATCTGAAGTCT... |
Task1_train_15448 | This mutation is located in gene ANO5 (anoctamin 5) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Miyoshi muscular dystrophy 3 | AGTTTTAGCAGTATGTATATGACATCCAATCTCTTGCATAGCCATAGTAACCAAATACTGCTTCTAAAATTAATGGTAGTTGTTCTATTGTAGTATAAACAAACAAGCAAATATTAAAATGTTTAATAGTACCAAGTTCATGAAACTGTTCTCCCTGCTAACAATGTATCTACTGCATACAGCAGTAATGAAATGAGTAGAGTAGAAGTTTCTGCCTTACGAAATTCACAACCAATATTAAATGATAGAATGAATAAGTGAATGAAATATAACCTGTTGTTAAGAAAGTTACAATCTAATTGGGTTAGAATCTGAAGTCT... | AGTTTTAGCAGTATGTATATGACATCCAATCTCTTGCATAGCCATAGTAACCAAATACTGCTTCTAAAATTAATGGTAGTTGTTCTATTGTAGTATAAACAAACAAGCAAATATTAAAATGTTTAATAGTACCAAGTTCATGAAACTGTTCTCCCTGCTAACAATGTATCTACTGCATACAGCAGTAATGAAATGAGTAGAGTAGAAGTTTCTGCCTTACGAAATTCACAACCAATATTAAATGATAGAATGAATAAGTGAATGAAATATAACCTGTTGTTAAGAAAGTTACAATCTAATTGGGTTAGAATCTGAAGTCT... |
Task1_train_15449 | Here is a genetic alteration in ANO5 (anoctamin 5) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Gnathodiaphyseal dysplasia | AGTTTTAGCAGTATGTATATGACATCCAATCTCTTGCATAGCCATAGTAACCAAATACTGCTTCTAAAATTAATGGTAGTTGTTCTATTGTAGTATAAACAAACAAGCAAATATTAAAATGTTTAATAGTACCAAGTTCATGAAACTGTTCTCCCTGCTAACAATGTATCTACTGCATACAGCAGTAATGAAATGAGTAGAGTAGAAGTTTCTGCCTTACGAAATTCACAACCAATATTAAATGATAGAATGAATAAGTGAATGAAATATAACCTGTTGTTAAGAAAGTTACAATCTAATTGGGTTAGAATCTGAAGTCT... | AGTTTTAGCAGTATGTATATGACATCCAATCTCTTGCATAGCCATAGTAACCAAATACTGCTTCTAAAATTAATGGTAGTTGTTCTATTGTAGTATAAACAAACAAGCAAATATTAAAATGTTTAATAGTACCAAGTTCATGAAACTGTTCTCCCTGCTAACAATGTATCTACTGCATACAGCAGTAATGAAATGAGTAGAGTAGAAGTTTCTGCCTTACGAAATTCACAACCAATATTAAATGATAGAATGAATAAGTGAATGAAATATAACCTGTTGTTAAGAAAGTTACAATCTAATTGGGTTAGAATCTGAAGTCT... |
Task1_train_15450 | A mutation in ANO5 (anoctamin 5), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2L | TATCATGTGTAAGATAACCCATCTAGGAGGCCTGGAGATTTCTCCTTCAAGAGAAGGAACCATTCCTATAATGTAGCTTTCCATGACCTATAGTAGGCCCTTTTGGGAGACTCCTACTTTAACTGGGCTCTGTGATATTGACTAGTGCTTGGAGTCTTGACTTAGAGGGGAGATTTTGAATTTCTTTGTGATTTCTTCAATATTACAGGAGATGGAACCTTACATGCCTCTATACACGCGTATTCCATGGTACTTTCTTTCAGGAGCCACAGTGACATTATGGGTGAGCATTTCTTTAAAAATTGCTATAATTTCTTCAA... | TATCATGTGTAAGATAACCCATCTAGGAGGCCTGGAGATTTCTCCTTCAAGAGAAGGAACCATTCCTATAATGTAGCTTTCCATGACCTATAGTAGGCCCTTTTGGGAGACTCCTACTTTAACTGGGCTCTGTGATATTGACTAGTGCTTGGAGTCTTGACTTAGAGGGGAGATTTTGAATTTCTTTGTGATTTCTTCAATATTACAGGAGATGGAACCTTACATGCCTCTATACACGCGTATTCCATGGTACTTTCTTTCAGGAGCCACAGTGACATTATGGGTGAGCATTTCTTTAAAAATTGCTATAATTTCTTCAA... |
Task1_train_15451 | Mutation context: Chromosome 11, Gene ANO5 (anoctamin 5). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Gnathodiaphyseal dysplasia | TGATATTGACTAGTGCTTGGAGTCTTGACTTAGAGGGGAGATTTTGAATTTCTTTGTGATTTCTTCAATATTACAGGAGATGGAACCTTACATGCCTCTATACACGCGTATTCCATGGTACTTTCTTTCAGGAGCCACAGTGACATTATGGGTGAGCATTTCTTTAAAAATTGCTATAATTTCTTCAACAGGTGATTAAATGAGCTATCTCAACAGTGTTACCTACAATGTCTCTTGAGTCTTTCCTTTCCCTCTCCCTCCCTGGTCTTTTTATCTTGGTTATAGCTCTTATACAAAATAAACTGTAATTTATGTGGATT... | TGATATTGACTAGTGCTTGGAGTCTTGACTTAGAGGGGAGATTTTGAATTTCTTTGTGATTTCTTCAATATTACAGGAGATGGAACCTTACATGCCTCTATACACGCGTATTCCATGGTACTTTCTTTCAGGAGCCACAGTGACATTATGGGTGAGCATTTCTTTAAAAATTGCTATAATTTCTTCAACAGGTGATTAAATGAGCTATCTCAACAGTGTTACCTACAATGTCTCTTGAGTCTTTCCTTTCCCTCTCCCTCCCTGGTCTTTTTATCTTGGTTATAGCTCTTATACAAAATAAACTGTAATTTATGTGGATT... |
Task1_train_15452 | The following genetic variant occurs in ANO5 (anoctamin 5) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy | TGTCACATCAGTGTCTAGGTACTTTTTAATTGCTATTGTAAATGATATCTTTTTAGAATATATATGTTTTCTACTTGTGTGTTGTGGGTGTATAGGAATGAAATATATTAATAAACCCTAATATTGTTTCTACTCATTTTTGTCTAACTTCACTTGGGTTTTCTATTCAGACAATCACATCACTGTTAATAATCACAGATTTCTCCTTTATTTCCAAATATTTTGCCTTTCTTATTTTATTTTACTGGCTAAGATCTCCAGCAATCTTGAATGTGATCATGCAAGTGCTTATTTTGTTCTTGATTCTAAAGGAAATGCTT... | TGTCACATCAGTGTCTAGGTACTTTTTAATTGCTATTGTAAATGATATCTTTTTAGAATATATATGTTTTCTACTTGTGTGTTGTGGGTGTATAGGAATGAAATATATTAATAAACCCTAATATTGTTTCTACTCATTTTTGTCTAACTTCACTTGGGTTTTCTATTCAGACAATCACATCACTGTTAATAATCACAGATTTCTCCTTTATTTCCAAATATTTTGCCTTTCTTATTTTATTTTACTGGCTAAGATCTCCAGCAATCTTGAATGTGATCATGCAAGTGCTTATTTTGTTCTTGATTCTAAAGGAAATGCTT... |
Task1_train_15453 | This variant impacts the gene FANCF (FA complementation group F) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Fanconi anemia | CAAGGCGGACGGATCACAAGGTCAGGTGTTTGAGACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCCTGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGTCAGAATTGCTTGATCCTGGGAGGCAGAGGTTGCACTGAGCAGTGATCACACCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAGTTTGATTCTTTTATCATCAAGCATTAATTTAATATCCAAAGGCATATATTCGTATTTACTGTGCTTTAAACATTTG... | CAAGGCGGACGGATCACAAGGTCAGGTGTTTGAGACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCCTGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGTCAGAATTGCTTGATCCTGGGAGGCAGAGGTTGCACTGAGCAGTGATCACACCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAGTTTGATTCTTTTATCATCAAGCATTAATTTAATATCCAAAGGCATATATTCGTATTTACTGTGCTTTAAACATTTG... |
Task1_train_15454 | This variant lies on Chromosome 11 and affects the gene FANCF (FA complementation group F). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Fanconi anemia | AAGGCGGACGGATCACAAGGTCAGGTGTTTGAGACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCCTGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGTCAGAATTGCTTGATCCTGGGAGGCAGAGGTTGCACTGAGCAGTGATCACACCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAGTTTGATTCTTTTATCATCAAGCATTAATTTAATATCCAAAGGCATATATTCGTATTTACTGTGCTTTAAACATTTGT... | AAGGCGGACGGATCACAAGGTCAGGTGTTTGAGACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCCTGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGTCAGAATTGCTTGATCCTGGGAGGCAGAGGTTGCACTGAGCAGTGATCACACCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAGTTTGATTCTTTTATCATCAAGCATTAATTTAATATCCAAAGGCATATATTCGTATTTACTGTGCTTTAAACATTTGT... |
Task1_train_15455 | This variant lies on Chromosome 11 and affects the gene FANCF (FA complementation group F). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Fanconi anemia complementation group F | AAGGCGGACGGATCACAAGGTCAGGTGTTTGAGACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCCTGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGTCAGAATTGCTTGATCCTGGGAGGCAGAGGTTGCACTGAGCAGTGATCACACCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAGTTTGATTCTTTTATCATCAAGCATTAATTTAATATCCAAAGGCATATATTCGTATTTACTGTGCTTTAAACATTTGT... | AAGGCGGACGGATCACAAGGTCAGGTGTTTGAGACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCCTGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGTCAGAATTGCTTGATCCTGGGAGGCAGAGGTTGCACTGAGCAGTGATCACACCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAGTTTGATTCTTTTATCATCAAGCATTAATTTAATATCCAAAGGCATATATTCGTATTTACTGTGCTTTAAACATTTGT... |
Task1_train_15456 | The gene ANO3 (anoctamin 3), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Dystonia 24 | CATTTGCCACTATAGGAATATGTGCCTCCCTTTAATTTACTCAATTCATTTTCAACCTGATCTATTATGTTGTTGTAGACCCAGTTCCAGTTGTTAAAGTACTGGGTTATCAATTCTAAGGCCCTGGCAAGGGTGGTGGGGAACGGGTCCCACATAACTGCCCATGTCGAGAGCTGTATGCCTGAATTGGGAGAGTCACCAGGGCCAAGACTCCCTGGGTTCATTGCCTAGGTGCTTAAGGACACAGCGTAGAGCTTCCTTAGATCCCTTTGGAGATACAACCTGCTCTAATACTTGGGAACGGAAGTGAAAGTCTGAAG... | CATTTGCCACTATAGGAATATGTGCCTCCCTTTAATTTACTCAATTCATTTTCAACCTGATCTATTATGTTGTTGTAGACCCAGTTCCAGTTGTTAAAGTACTGGGTTATCAATTCTAAGGCCCTGGCAAGGGTGGTGGGGAACGGGTCCCACATAACTGCCCATGTCGAGAGCTGTATGCCTGAATTGGGAGAGTCACCAGGGCCAAGACTCCCTGGGTTCATTGCCTAGGTGCTTAAGGACACAGCGTAGAGCTTCCTTAGATCCCTTTGGAGATACAACCTGCTCTAATACTTGGGAACGGAAGTGAAAGTCTGAAG... |
Task1_train_15457 | Located on Chromosome 11, this mutation impacts ANO3 (anoctamin 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Dystonia 24 | TATAGGAATATGTGCCTCCCTTTAATTTACTCAATTCATTTTCAACCTGATCTATTATGTTGTTGTAGACCCAGTTCCAGTTGTTAAAGTACTGGGTTATCAATTCTAAGGCCCTGGCAAGGGTGGTGGGGAACGGGTCCCACATAACTGCCCATGTCGAGAGCTGTATGCCTGAATTGGGAGAGTCACCAGGGCCAAGACTCCCTGGGTTCATTGCCTAGGTGCTTAAGGACACAGCGTAGAGCTTCCTTAGATCCCTTTGGAGATACAACCTGCTCTAATACTTGGGAACGGAAGTGAAAGTCTGAAGCATTAGTACC... | TATAGGAATATGTGCCTCCCTTTAATTTACTCAATTCATTTTCAACCTGATCTATTATGTTGTTGTAGACCCAGTTCCAGTTGTTAAAGTACTGGGTTATCAATTCTAAGGCCCTGGCAAGGGTGGTGGGGAACGGGTCCCACATAACTGCCCATGTCGAGAGCTGTATGCCTGAATTGGGAGAGTCACCAGGGCCAAGACTCCCTGGGTTCATTGCCTAGGTGCTTAAGGACACAGCGTAGAGCTTCCTTAGATCCCTTTGGAGATACAACCTGCTCTAATACTTGGGAACGGAAGTGAAAGTCTGAAGCATTAGTACC... |
Task1_train_15458 | This sequence variant lies in ANO3 (anoctamin 3) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Dystonic disorder | TGACATCCTTCTTTAAAAATATGTACAAACCAGACTGGATGCGGTGAGTCACTCTTGTAATCCTAGCAGTCAGGAGTTCGAGACCAGTCTGGCCAACATGTTGAAACCCTGTCTCTGCCAAAAAATACAAAACTTAGCCGGGCGTGGTGACACCTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCATTGTAGTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAGAAAAAAAAAATTTATATATATATAAAATATATATA... | TGACATCCTTCTTTAAAAATATGTACAAACCAGACTGGATGCGGTGAGTCACTCTTGTAATCCTAGCAGTCAGGAGTTCGAGACCAGTCTGGCCAACATGTTGAAACCCTGTCTCTGCCAAAAAATACAAAACTTAGCCGGGCGTGGTGACACCTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCATTGTAGTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAGAAAAAAAAAATTTATATATATATAAAATATATATA... |
Task1_train_15459 | This variant lies on Chromosome 11 and affects the gene ANO3 (anoctamin 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Dystonia 24 | GATAGACTGGCTTTAGTGCAAGACCACCATTATGTGAATGGACAAACCCACAAAAACTATTGGACCCCCTTCTCTTCCTTATAAATCATAAAGTCATCAAGGCTTAATTTCAACAAAATTATAAATGGCCTGTCTTCCAGCCACCCCACTTTGGCCTATCCTTTGTGGGTAGCGAACCAATCACATGATCCTATGATCATCTTCTTTTTCCCATCCCACAAAATAATGTTTGTGTTAAACCCACACTTCAAGGCAGCAAACACATTGGTAAATGGAATTCATCCTTAGTATAATATAAAAGAGCAATGGATTGGGGAAAT... | GATAGACTGGCTTTAGTGCAAGACCACCATTATGTGAATGGACAAACCCACAAAAACTATTGGACCCCCTTCTCTTCCTTATAAATCATAAAGTCATCAAGGCTTAATTTCAACAAAATTATAAATGGCCTGTCTTCCAGCCACCCCACTTTGGCCTATCCTTTGTGGGTAGCGAACCAATCACATGATCCTATGATCATCTTCTTTTTCCCATCCCACAAAATAATGTTTGTGTTAAACCCACACTTCAAGGCAGCAAACACATTGGTAAATGGAATTCATCCTTAGTATAATATAAAAGAGCAATGGATTGGGGAAAT... |
Task1_train_15460 | A mutation found in ANO3 (anoctamin 3) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Dystonia 24 | ATTATGTGCTGTAATCTTCTGTACATTTTCTTCTTCAACATCGACGTTGCTAATATAGATTCTTTACATTTACATATAAACTTTAGATTCAATTTATCAGTTACCATTTTTTAAAAATTTGAGAGAATTGACATTTTAACAACCAATCTTGAAACATGCTGACTCCATTTATTTAAGCGTTCGTTGAATTCTCTGAGACATGTGGTTTGGTTGTTTGTTTTTAGATCCCAGTGTAGAGGTCCTATATGGCATTTTTAGATTTATGCCCAGATATTTGGTATTTGTAATGTCACTATAAATAGTATTTATTTAAATTTTAT... | ATTATGTGCTGTAATCTTCTGTACATTTTCTTCTTCAACATCGACGTTGCTAATATAGATTCTTTACATTTACATATAAACTTTAGATTCAATTTATCAGTTACCATTTTTTAAAAATTTGAGAGAATTGACATTTTAACAACCAATCTTGAAACATGCTGACTCCATTTATTTAAGCGTTCGTTGAATTCTCTGAGACATGTGGTTTGGTTGTTTGTTTTTAGATCCCAGTGTAGAGGTCCTATATGGCATTTTTAGATTTATGCCCAGATATTTGGTATTTGTAATGTCACTATAAATAGTATTTATTTAAATTTTAT... |
Task1_train_15461 | The gene LGR4 (leucine rich repeat containing G protein-coupled receptor 4), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Delayed puberty, self-limited | TGATTTAATATTTATCAGATGTGTAAATATACATGATAGCAATTTTTAAAACTTGTAAATAGTTGGCCTTACAAAATTACAACACACTGTAAATAAATCCTTCCCACATTTTATACAAACTACATGATTTTGATATACAAAGATTCTGTTTTTATTACACTGACAATGTACAACAAAGACTATTTACAATGCAAAAAGTATATAAACCACAATTTAACAGTCTGCTACTGGCAGCCACTATAGTTTAGGAGGTAGCTTTAATTAAACGAAATGAACAGAAGCCACATTTCCCAACTTGTGTTCTAAAAATAATTTACATA... | TGATTTAATATTTATCAGATGTGTAAATATACATGATAGCAATTTTTAAAACTTGTAAATAGTTGGCCTTACAAAATTACAACACACTGTAAATAAATCCTTCCCACATTTTATACAAACTACATGATTTTGATATACAAAGATTCTGTTTTTATTACACTGACAATGTACAACAAAGACTATTTACAATGCAAAAAGTATATAAACCACAATTTAACAGTCTGCTACTGGCAGCCACTATAGTTTAGGAGGTAGCTTTAATTAAACGAAATGAACAGAAGCCACATTTCCCAACTTGTGTTCTAAAAATAATTTACATA... |
Task1_train_15462 | With a mutation on Chromosome 11 in gene LGR4 (leucine rich repeat containing G protein-coupled receptor 4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | AAAAGAAAAAAATTAGCTGGAGATTGTGGTGTGCACCTGTAGTCCCTCAGCTATTCAGGAGGTTGAGGCAGGAGGATTGTTTGAGCTCAGGCGTTGGAGGATGCAGTGAGCTGTGATTACACCACTGCATTCTAGCCTGAGCGACAAGAGTGAGAGACCCTGTCTCAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAATGTTCATTAATTTAGTGTACTATGTTTCTGTGCTAAAGTTCTAGGAAGATAGTGAGTGGCAAGGTTTGTCTCAGTCACCTCTATATTCCCAAGTGCTTATGAGAGTACCTGGAACAAATAT... | AAAAGAAAAAAATTAGCTGGAGATTGTGGTGTGCACCTGTAGTCCCTCAGCTATTCAGGAGGTTGAGGCAGGAGGATTGTTTGAGCTCAGGCGTTGGAGGATGCAGTGAGCTGTGATTACACCACTGCATTCTAGCCTGAGCGACAAGAGTGAGAGACCCTGTCTCAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAATGTTCATTAATTTAGTGTACTATGTTTCTGTGCTAAAGTTCTAGGAAGATAGTGAGTGGCAAGGTTTGTCTCAGTCACCTCTATATTCCCAAGTGCTTATGAGAGTACCTGGAACAAATAT... |
Task1_train_15463 | The gene LGR4 (leucine rich repeat containing G protein-coupled receptor 4) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Delayed puberty, self-limited | AAACCAGCATTACTTCTAGGATATAGCCTAGGGTTCTGCATTTTAGCAGTCTCCCCCTAGTGAGTCTGTTGCAAAGTGTGGTCAAAGTACCACACTTAGAGAAACTATGCCCCAGAGTCCCATTGCATTTGGTATTTAGGACATGAAGTGAGGCAATGCAAATTTGTATTCATTATTCTAGTAGAAGCTAATGAAGTTCCTTGTTTTGAAGAATACTTTTTCATTTTTTCCGAGAAGTTCCCTTGACAAAATTGAGGAATTACAATCGATTTGTTCTGATTATCATTACCACACGAAACAGAAACCTCTTTGTGGCTGTT... | AAACCAGCATTACTTCTAGGATATAGCCTAGGGTTCTGCATTTTAGCAGTCTCCCCCTAGTGAGTCTGTTGCAAAGTGTGGTCAAAGTACCACACTTAGAGAAACTATGCCCCAGAGTCCCATTGCATTTGGTATTTAGGACATGAAGTGAGGCAATGCAAATTTGTATTCATTATTCTAGTAGAAGCTAATGAAGTTCCTTGTTTTGAAGAATACTTTTTCATTTTTTCCGAGAAGTTCCCTTGACAAAATTGAGGAATTACAATCGATTTGTTCTGATTATCATTACCACACGAAACAGAAACCTCTTTGTGGCTGTT... |
Task1_train_15464 | This genomic variant is located on Chromosome 11, within the ARL14EP-DT, FSHB (ARL14EP divergent transcript| follicle stimulating hormone subunit beta) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hypogonadotropic hypogonadism 24 without anosmia | GATGATCACAATTATCAGAGTAATTACTTTATGACAGTCAGCAATAAGATTCTAATCTTTAAATATTCCTCTGCTTAAATCATTATATTGGAGTTTTGATCTATAATATATTCCCACCCTGACCCAAAAATTGAAGAAGGACAAGGAAAAATGTTGTTCCAAGAAACAAAGATGTAAGTAAAAAGGCATAAGGAAGGAAAAAAAACTTTTGAAGCAAAATGTGATTGAGGAGGATGAGCAGACCAATTATTTTTGGTTTGGTCAGCTTACATAATGATTATCGTTCTTTGGTTTCTCAGTTTCTAGTGGGCTTCATTGTT... | GATGATCACAATTATCAGAGTAATTACTTTATGACAGTCAGCAATAAGATTCTAATCTTTAAATATTCCTCTGCTTAAATCATTATATTGGAGTTTTGATCTATAATATATTCCCACCCTGACCCAAAAATTGAAGAAGGACAAGGAAAAATGTTGTTCCAAGAAACAAAGATGTAAGTAAAAAGGCATAAGGAAGGAAAAAAAACTTTTGAAGCAAAATGTGATTGAGGAGGATGAGCAGACCAATTATTTTTGGTTTGGTCAGCTTACATAATGATTATCGTTCTTTGGTTTCTCAGTTTCTAGTGGGCTTCATTGTT... |
Task1_train_15465 | Given this variant in gene ARL14EP-DT, FSHB (ARL14EP divergent transcript| follicle stimulating hormone subunit beta) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hypogonadotropic hypogonadism 24 without anosmia | TTTTGATCTATAATATATTCCCACCCTGACCCAAAAATTGAAGAAGGACAAGGAAAAATGTTGTTCCAAGAAACAAAGATGTAAGTAAAAAGGCATAAGGAAGGAAAAAAAACTTTTGAAGCAAAATGTGATTGAGGAGGATGAGCAGACCAATTATTTTTGGTTTGGTCAGCTTACATAATGATTATCGTTCTTTGGTTTCTCAGTTTCTAGTGGGCTTCATTGTTTGCTTCCCAGACCAGGATGAAGACACTCCAGTTTTTCTTCCTTTTCTGTTGCTGGAAAGCAATCTGCTGCAATAGCTGTGAGCTGACCAACAT... | TTTTGATCTATAATATATTCCCACCCTGACCCAAAAATTGAAGAAGGACAAGGAAAAATGTTGTTCCAAGAAACAAAGATGTAAGTAAAAAGGCATAAGGAAGGAAAAAAAACTTTTGAAGCAAAATGTGATTGAGGAGGATGAGCAGACCAATTATTTTTGGTTTGGTCAGCTTACATAATGATTATCGTTCTTTGGTTTCTCAGTTTCTAGTGGGCTTCATTGTTTGCTTCCCAGACCAGGATGAAGACACTCCAGTTTTTCTTCCTTTTCTGTTGCTGGAAAGCAATCTGCTGCAATAGCTGTGAGCTGACCAACAT... |
Task1_train_15466 | Given a variant located on Chromosome 11 and affecting PAX6 (paired box 6), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Aniridia 1 | CTTTGAGCTTTAGAATTAAATGGCTAACTGGGAAATGTTACCATTTTGTATATATGTTGTGGGTATAAATGGGCACAGATCTACACCCTGCTGTAAGTGGAATTTTTTTCTAACACGTTTTTGATTTATGGTATCTATAAGGATTATTTTTTAAGGATCATCAGGATGTAAAACAGAGTGTGTGTGAAAGTAACCATTGGTTTAGAATGTTGATCTAACATGGAAATAAAATTTGTAACACCACACTATAAGGTTAAAAAGAAAACTGTATAATAAAGGAAATACAAAGGCTTTGGCATGGTTTTTTACAATCAACAATG... | CTTTGAGCTTTAGAATTAAATGGCTAACTGGGAAATGTTACCATTTTGTATATATGTTGTGGGTATAAATGGGCACAGATCTACACCCTGCTGTAAGTGGAATTTTTTTCTAACACGTTTTTGATTTATGGTATCTATAAGGATTATTTTTTAAGGATCATCAGGATGTAAAACAGAGTGTGTGTGAAAGTAACCATTGGTTTAGAATGTTGATCTAACATGGAAATAAAATTTGTAACACCACACTATAAGGTTAAAAAGAAAACTGTATAATAAAGGAAATACAAAGGCTTTGGCATGGTTTTTTACAATCAACAATG... |
Task1_train_15467 | The following genetic variant occurs in PAX6 (paired box 6) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Aniridia 1 | CTTTGAGCTTTAGAATTAAATGGCTAACTGGGAAATGTTACCATTTTGTATATATGTTGTGGGTATAAATGGGCACAGATCTACACCCTGCTGTAAGTGGAATTTTTTTCTAACACGTTTTTGATTTATGGTATCTATAAGGATTATTTTTTAAGGATCATCAGGATGTAAAACAGAGTGTGTGTGAAAGTAACCATTGGTTTAGAATGTTGATCTAACATGGAAATAAAATTTGTAACACCACACTATAAGGTTAAAAAGAAAACTGTATAATAAAGGAAATACAAAGGCTTTGGCATGGTTTTTTACAATCAACAATG... | CTTTGAGCTTTAGAATTAAATGGCTAACTGGGAAATGTTACCATTTTGTATATATGTTGTGGGTATAAATGGGCACAGATCTACACCCTGCTGTAAGTGGAATTTTTTTCTAACACGTTTTTGATTTATGGTATCTATAAGGATTATTTTTTAAGGATCATCAGGATGTAAAACAGAGTGTGTGTGAAAGTAACCATTGGTTTAGAATGTTGATCTAACATGGAAATAAAATTTGTAACACCACACTATAAGGTTAAAAAGAAAACTGTATAATAAAGGAAATACAAAGGCTTTGGCATGGTTTTTTACAATCAACAATG... |
Task1_train_15468 | This sequence change occurs on Chromosome 11, altering PAX6 (paired box 6). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Irido-corneo-trabecular dysgenesis | CTTTGAGCTTTAGAATTAAATGGCTAACTGGGAAATGTTACCATTTTGTATATATGTTGTGGGTATAAATGGGCACAGATCTACACCCTGCTGTAAGTGGAATTTTTTTCTAACACGTTTTTGATTTATGGTATCTATAAGGATTATTTTTTAAGGATCATCAGGATGTAAAACAGAGTGTGTGTGAAAGTAACCATTGGTTTAGAATGTTGATCTAACATGGAAATAAAATTTGTAACACCACACTATAAGGTTAAAAAGAAAACTGTATAATAAAGGAAATACAAAGGCTTTGGCATGGTTTTTTACAATCAACAATG... | CTTTGAGCTTTAGAATTAAATGGCTAACTGGGAAATGTTACCATTTTGTATATATGTTGTGGGTATAAATGGGCACAGATCTACACCCTGCTGTAAGTGGAATTTTTTTCTAACACGTTTTTGATTTATGGTATCTATAAGGATTATTTTTTAAGGATCATCAGGATGTAAAACAGAGTGTGTGTGAAAGTAACCATTGGTTTAGAATGTTGATCTAACATGGAAATAAAATTTGTAACACCACACTATAAGGTTAAAAAGAAAACTGTATAATAAAGGAAATACAAAGGCTTTGGCATGGTTTTTTACAATCAACAATG... |
Task1_train_15469 | The gene PAX6 (paired box 6) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Optic nerve aplasia, bilateral | GAATTAAATGGCTAACTGGGAAATGTTACCATTTTGTATATATGTTGTGGGTATAAATGGGCACAGATCTACACCCTGCTGTAAGTGGAATTTTTTTCTAACACGTTTTTGATTTATGGTATCTATAAGGATTATTTTTTAAGGATCATCAGGATGTAAAACAGAGTGTGTGTGAAAGTAACCATTGGTTTAGAATGTTGATCTAACATGGAAATAAAATTTGTAACACCACACTATAAGGTTAAAAAGAAAACTGTATAATAAAGGAAATACAAAGGCTTTGGCATGGTTTTTTACAATCAACAATGGTTAATTTTGAT... | GAATTAAATGGCTAACTGGGAAATGTTACCATTTTGTATATATGTTGTGGGTATAAATGGGCACAGATCTACACCCTGCTGTAAGTGGAATTTTTTTCTAACACGTTTTTGATTTATGGTATCTATAAGGATTATTTTTTAAGGATCATCAGGATGTAAAACAGAGTGTGTGTGAAAGTAACCATTGGTTTAGAATGTTGATCTAACATGGAAATAAAATTTGTAACACCACACTATAAGGTTAAAAAGAAAACTGTATAATAAAGGAAATACAAAGGCTTTGGCATGGTTTTTTACAATCAACAATGGTTAATTTTGAT... |
Task1_train_15470 | This gene mutation involves PAX6 (paired box 6) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Aniridia 1 | CAAGTTAAAGTGATCAGAAGTGTTAGTAAATATAACGACCTCCATCCTGAGAATTAACCATGACTTCCTAACAGACCCAAAAGCCCAGACTGACTTATAACTAGAAAACTGTTGCTACCCTCGAACTGTTCGGAATGGCAGCACTGAGGAGGTAAACCTTTCTCCTAACAAAACGCCTCATGAGCTCTCATGGTACTATGCCATGGCAGCAAACTTGGGATGAATTAAAAGAAGTGTGTCGGGAACAAGCAGGTCAGATGATAGTACAGTATACTATCATTTCTCTTCTCTGCAAACTGGAGAAATGTTTAATTTCCAAA... | CAAGTTAAAGTGATCAGAAGTGTTAGTAAATATAACGACCTCCATCCTGAGAATTAACCATGACTTCCTAACAGACCCAAAAGCCCAGACTGACTTATAACTAGAAAACTGTTGCTACCCTCGAACTGTTCGGAATGGCAGCACTGAGGAGGTAAACCTTTCTCCTAACAAAACGCCTCATGAGCTCTCATGGTACTATGCCATGGCAGCAAACTTGGGATGAATTAAAAGAAGTGTGTCGGGAACAAGCAGGTCAGATGATAGTACAGTATACTATCATTTCTCTTCTCTGCAAACTGGAGAAATGTTTAATTTCCAAA... |
Task1_train_15471 | Here is a variant affecting PAX6 (paired box 6) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Aniridia 1 | CAAGTTAAAGTGATCAGAAGTGTTAGTAAATATAACGACCTCCATCCTGAGAATTAACCATGACTTCCTAACAGACCCAAAAGCCCAGACTGACTTATAACTAGAAAACTGTTGCTACCCTCGAACTGTTCGGAATGGCAGCACTGAGGAGGTAAACCTTTCTCCTAACAAAACGCCTCATGAGCTCTCATGGTACTATGCCATGGCAGCAAACTTGGGATGAATTAAAAGAAGTGTGTCGGGAACAAGCAGGTCAGATGATAGTACAGTATACTATCATTTCTCTTCTCTGCAAACTGGAGAAATGTTTAATTTCCAAA... | CAAGTTAAAGTGATCAGAAGTGTTAGTAAATATAACGACCTCCATCCTGAGAATTAACCATGACTTCCTAACAGACCCAAAAGCCCAGACTGACTTATAACTAGAAAACTGTTGCTACCCTCGAACTGTTCGGAATGGCAGCACTGAGGAGGTAAACCTTTCTCCTAACAAAACGCCTCATGAGCTCTCATGGTACTATGCCATGGCAGCAAACTTGGGATGAATTAAAAGAAGTGTGTCGGGAACAAGCAGGTCAGATGATAGTACAGTATACTATCATTTCTCTTCTCTGCAAACTGGAGAAATGTTTAATTTCCAAA... |
Task1_train_15472 | This genomic variant is located on Chromosome 11, within the PAX6 (paired box 6) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Irido-corneo-trabecular dysgenesis | CAAGTTAAAGTGATCAGAAGTGTTAGTAAATATAACGACCTCCATCCTGAGAATTAACCATGACTTCCTAACAGACCCAAAAGCCCAGACTGACTTATAACTAGAAAACTGTTGCTACCCTCGAACTGTTCGGAATGGCAGCACTGAGGAGGTAAACCTTTCTCCTAACAAAACGCCTCATGAGCTCTCATGGTACTATGCCATGGCAGCAAACTTGGGATGAATTAAAAGAAGTGTGTCGGGAACAAGCAGGTCAGATGATAGTACAGTATACTATCATTTCTCTTCTCTGCAAACTGGAGAAATGTTTAATTTCCAAA... | CAAGTTAAAGTGATCAGAAGTGTTAGTAAATATAACGACCTCCATCCTGAGAATTAACCATGACTTCCTAACAGACCCAAAAGCCCAGACTGACTTATAACTAGAAAACTGTTGCTACCCTCGAACTGTTCGGAATGGCAGCACTGAGGAGGTAAACCTTTCTCCTAACAAAACGCCTCATGAGCTCTCATGGTACTATGCCATGGCAGCAAACTTGGGATGAATTAAAAGAAGTGTGTCGGGAACAAGCAGGTCAGATGATAGTACAGTATACTATCATTTCTCTTCTCTGCAAACTGGAGAAATGTTTAATTTCCAAA... |
Task1_train_15473 | Gene PAX6 (paired box 6), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | CAAGTTAAAGTGATCAGAAGTGTTAGTAAATATAACGACCTCCATCCTGAGAATTAACCATGACTTCCTAACAGACCCAAAAGCCCAGACTGACTTATAACTAGAAAACTGTTGCTACCCTCGAACTGTTCGGAATGGCAGCACTGAGGAGGTAAACCTTTCTCCTAACAAAACGCCTCATGAGCTCTCATGGTACTATGCCATGGCAGCAAACTTGGGATGAATTAAAAGAAGTGTGTCGGGAACAAGCAGGTCAGATGATAGTACAGTATACTATCATTTCTCTTCTCTGCAAACTGGAGAAATGTTTAATTTCCAAA... | CAAGTTAAAGTGATCAGAAGTGTTAGTAAATATAACGACCTCCATCCTGAGAATTAACCATGACTTCCTAACAGACCCAAAAGCCCAGACTGACTTATAACTAGAAAACTGTTGCTACCCTCGAACTGTTCGGAATGGCAGCACTGAGGAGGTAAACCTTTCTCCTAACAAAACGCCTCATGAGCTCTCATGGTACTATGCCATGGCAGCAAACTTGGGATGAATTAAAAGAAGTGTGTCGGGAACAAGCAGGTCAGATGATAGTACAGTATACTATCATTTCTCTTCTCTGCAAACTGGAGAAATGTTTAATTTCCAAA... |
Task1_train_15474 | Here is a mutation in PAX6 (paired box 6) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Irido-corneo-trabecular dysgenesis | TATCAGAGAAGGTCCAGAGGAAGACACCCACCATTTGTAAAATGATGATTTTGGTCAAGAGAATGAATAAATGGATAGACAATCGGGCTCACCCACTCCAAAATTCAAAGAGTAGTTTTCTCTGAAGAGTAAAGTTATTGATCATTTTGATTTTCTTTATGCTTAATGAATGCATGTACTTTTTGAATTATACAAATTATGTAATTTTTAAAAGTCAGTGTTTGAAATAGATTGATTCCCCATACCGCTCTGTATGTGGAAACAGCCCTAATATAATTGCAGCATCTACTTGTTCGTCTTATTATTTTCTCACATACACA... | TATCAGAGAAGGTCCAGAGGAAGACACCCACCATTTGTAAAATGATGATTTTGGTCAAGAGAATGAATAAATGGATAGACAATCGGGCTCACCCACTCCAAAATTCAAAGAGTAGTTTTCTCTGAAGAGTAAAGTTATTGATCATTTTGATTTTCTTTATGCTTAATGAATGCATGTACTTTTTGAATTATACAAATTATGTAATTTTTAAAAGTCAGTGTTTGAAATAGATTGATTCCCCATACCGCTCTGTATGTGGAAACAGCCCTAATATAATTGCAGCATCTACTTGTTCGTCTTATTATTTTCTCACATACACA... |
Task1_train_15475 | This variant lies on Chromosome 11 and affects the gene PAX6 (paired box 6). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Coloboma, ocular, autosomal dominant | CCAGAGGAAGACACCCACCATTTGTAAAATGATGATTTTGGTCAAGAGAATGAATAAATGGATAGACAATCGGGCTCACCCACTCCAAAATTCAAAGAGTAGTTTTCTCTGAAGAGTAAAGTTATTGATCATTTTGATTTTCTTTATGCTTAATGAATGCATGTACTTTTTGAATTATACAAATTATGTAATTTTTAAAAGTCAGTGTTTGAAATAGATTGATTCCCCATACCGCTCTGTATGTGGAAACAGCCCTAATATAATTGCAGCATCTACTTGTTCGTCTTATTATTTTCTCACATACACATTTTGCTATCTTC... | CCAGAGGAAGACACCCACCATTTGTAAAATGATGATTTTGGTCAAGAGAATGAATAAATGGATAGACAATCGGGCTCACCCACTCCAAAATTCAAAGAGTAGTTTTCTCTGAAGAGTAAAGTTATTGATCATTTTGATTTTCTTTATGCTTAATGAATGCATGTACTTTTTGAATTATACAAATTATGTAATTTTTAAAAGTCAGTGTTTGAAATAGATTGATTCCCCATACCGCTCTGTATGTGGAAACAGCCCTAATATAATTGCAGCATCTACTTGTTCGTCTTATTATTTTCTCACATACACATTTTGCTATCTTC... |
Task1_train_15476 | With a mutation on Chromosome 11 in gene PAX6 (paired box 6), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Aniridia 1 | TGTATGTGGAAACAGCCCTAATATAATTGCAGCATCTACTTGTTCGTCTTATTATTTTCTCACATACACATTTTGCTATCTTCACAGAAACCTGGATGTTGTTATAATACATGAAACTGAACGAGACACTCTGTGGCCTTATTAAAGTCAGATGATGAATGCTAACATCAAGTTCAAAGAGGCAAACAGGCCTTGAGGGCCTGCCAGAATTTCAGCTTGCATTTGTTTCTAATTCCTGCAATGAGTTCCTCTAGGCAACCTGACTTCTGGAAAATTCCAACGCAGTTATAGCAACACCAACTAATGGGCTGTTAATCCCT... | TGTATGTGGAAACAGCCCTAATATAATTGCAGCATCTACTTGTTCGTCTTATTATTTTCTCACATACACATTTTGCTATCTTCACAGAAACCTGGATGTTGTTATAATACATGAAACTGAACGAGACACTCTGTGGCCTTATTAAAGTCAGATGATGAATGCTAACATCAAGTTCAAAGAGGCAAACAGGCCTTGAGGGCCTGCCAGAATTTCAGCTTGCATTTGTTTCTAATTCCTGCAATGAGTTCCTCTAGGCAACCTGACTTCTGGAAAATTCCAACGCAGTTATAGCAACACCAACTAATGGGCTGTTAATCCCT... |
Task1_train_15477 | An alteration has been detected in PAX6 (paired box 6) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Aniridia 1 | TGTTCGTCTTATTATTTTCTCACATACACATTTTGCTATCTTCACAGAAACCTGGATGTTGTTATAATACATGAAACTGAACGAGACACTCTGTGGCCTTATTAAAGTCAGATGATGAATGCTAACATCAAGTTCAAAGAGGCAAACAGGCCTTGAGGGCCTGCCAGAATTTCAGCTTGCATTTGTTTCTAATTCCTGCAATGAGTTCCTCTAGGCAACCTGACTTCTGGAAAATTCCAACGCAGTTATAGCAACACCAACTAATGGGCTGTTAATCCCTTAATTTACATCAATTGCACTATGGCCAACAATATCCAGAT... | TGTTCGTCTTATTATTTTCTCACATACACATTTTGCTATCTTCACAGAAACCTGGATGTTGTTATAATACATGAAACTGAACGAGACACTCTGTGGCCTTATTAAAGTCAGATGATGAATGCTAACATCAAGTTCAAAGAGGCAAACAGGCCTTGAGGGCCTGCCAGAATTTCAGCTTGCATTTGTTTCTAATTCCTGCAATGAGTTCCTCTAGGCAACCTGACTTCTGGAAAATTCCAACGCAGTTATAGCAACACCAACTAATGGGCTGTTAATCCCTTAATTTACATCAATTGCACTATGGCCAACAATATCCAGAT... |
Task1_train_15478 | A mutation on Chromosome 11 affecting PAX6 (paired box 6) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Aniridia 1 | CCTATCAAGAATCCATCCAGCAACAAAGGTCTAGTACAAACCATCTGCCTTATCCAACTTACATCATAAAGGGTGAACCTAGTGCAGGACCTCTAAATGTAGGGGCTAATAGATATTTGGGACAGAACTAAGAGGAGAGGCAGGCTGTCATACCAAGTGAATAGCATCAAGCTTCCCAGGCAGCTAGGAGGGCCACAAACTCGTCACACCATTCACAGCAAAGACACACTAAATTTCCAGCAAATACCTGCTATGCCTTTTCTTATTGTAGATACAGACAGAAAACTAGCATTCTCATTATATTATGTATATCTCACCAT... | CCTATCAAGAATCCATCCAGCAACAAAGGTCTAGTACAAACCATCTGCCTTATCCAACTTACATCATAAAGGGTGAACCTAGTGCAGGACCTCTAAATGTAGGGGCTAATAGATATTTGGGACAGAACTAAGAGGAGAGGCAGGCTGTCATACCAAGTGAATAGCATCAAGCTTCCCAGGCAGCTAGGAGGGCCACAAACTCGTCACACCATTCACAGCAAAGACACACTAAATTTCCAGCAAATACCTGCTATGCCTTTTCTTATTGTAGATACAGACAGAAAACTAGCATTCTCATTATATTATGTATATCTCACCAT... |
Task1_train_15479 | Located on Chromosome 11, this mutation impacts PAX6 (paired box 6). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Irido-corneo-trabecular dysgenesis | CCTATCAAGAATCCATCCAGCAACAAAGGTCTAGTACAAACCATCTGCCTTATCCAACTTACATCATAAAGGGTGAACCTAGTGCAGGACCTCTAAATGTAGGGGCTAATAGATATTTGGGACAGAACTAAGAGGAGAGGCAGGCTGTCATACCAAGTGAATAGCATCAAGCTTCCCAGGCAGCTAGGAGGGCCACAAACTCGTCACACCATTCACAGCAAAGACACACTAAATTTCCAGCAAATACCTGCTATGCCTTTTCTTATTGTAGATACAGACAGAAAACTAGCATTCTCATTATATTATGTATATCTCACCAT... | CCTATCAAGAATCCATCCAGCAACAAAGGTCTAGTACAAACCATCTGCCTTATCCAACTTACATCATAAAGGGTGAACCTAGTGCAGGACCTCTAAATGTAGGGGCTAATAGATATTTGGGACAGAACTAAGAGGAGAGGCAGGCTGTCATACCAAGTGAATAGCATCAAGCTTCCCAGGCAGCTAGGAGGGCCACAAACTCGTCACACCATTCACAGCAAAGACACACTAAATTTCCAGCAAATACCTGCTATGCCTTTTCTTATTGTAGATACAGACAGAAAACTAGCATTCTCATTATATTATGTATATCTCACCAT... |
Task1_train_15480 | Gene PAX6 (paired box 6) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Aniridia 1 | TATCAAGAATCCATCCAGCAACAAAGGTCTAGTACAAACCATCTGCCTTATCCAACTTACATCATAAAGGGTGAACCTAGTGCAGGACCTCTAAATGTAGGGGCTAATAGATATTTGGGACAGAACTAAGAGGAGAGGCAGGCTGTCATACCAAGTGAATAGCATCAAGCTTCCCAGGCAGCTAGGAGGGCCACAAACTCGTCACACCATTCACAGCAAAGACACACTAAATTTCCAGCAAATACCTGCTATGCCTTTTCTTATTGTAGATACAGACAGAAAACTAGCATTCTCATTATATTATGTATATCTCACCATGT... | TATCAAGAATCCATCCAGCAACAAAGGTCTAGTACAAACCATCTGCCTTATCCAACTTACATCATAAAGGGTGAACCTAGTGCAGGACCTCTAAATGTAGGGGCTAATAGATATTTGGGACAGAACTAAGAGGAGAGGCAGGCTGTCATACCAAGTGAATAGCATCAAGCTTCCCAGGCAGCTAGGAGGGCCACAAACTCGTCACACCATTCACAGCAAAGACACACTAAATTTCCAGCAAATACCTGCTATGCCTTTTCTTATTGTAGATACAGACAGAAAACTAGCATTCTCATTATATTATGTATATCTCACCATGT... |
Task1_train_15481 | The following genetic variant occurs in PAX6 (paired box 6) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Aniridia 1 | ATTTGACTCTCACTTCCCGCCCTCAGACTGCCGGCGACGAAAATCCGCCCGAATCGGGCGCCACCTCTGGTGGAAGCTGCTGTCCTCGGCTTCTGCCCAACTCCAAGAAGCGGAAGGGGGGTGTATCCTGCGCCCCAAGCTCATGGGAGCCCACGCACCGGGGAGAGCCCGGAGTGGAGGCTCTGGGCTCAGCCCTCCCAGGCCTAGGCCACCGTGCCCTGAGTCCCTCCCCAAGACTTCTCGGACTAAGTGGGCCAGACTCTTGTCAGGGGAGGGATCACCAGGACCTCAGATTGCTGGGGGCGGAGGGGTGGACGCTC... | ATTTGACTCTCACTTCCCGCCCTCAGACTGCCGGCGACGAAAATCCGCCCGAATCGGGCGCCACCTCTGGTGGAAGCTGCTGTCCTCGGCTTCTGCCCAACTCCAAGAAGCGGAAGGGGGGTGTATCCTGCGCCCCAAGCTCATGGGAGCCCACGCACCGGGGAGAGCCCGGAGTGGAGGCTCTGGGCTCAGCCCTCCCAGGCCTAGGCCACCGTGCCCTGAGTCCCTCCCCAAGACTTCTCGGACTAAGTGGGCCAGACTCTTGTCAGGGGAGGGATCACCAGGACCTCAGATTGCTGGGGGCGGAGGGGTGGACGCTC... |
Task1_train_15482 | A variant was discovered on Chromosome 11, affecting PAX6 (paired box 6). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Irido-corneo-trabecular dysgenesis | ATTTGACTCTCACTTCCCGCCCTCAGACTGCCGGCGACGAAAATCCGCCCGAATCGGGCGCCACCTCTGGTGGAAGCTGCTGTCCTCGGCTTCTGCCCAACTCCAAGAAGCGGAAGGGGGGTGTATCCTGCGCCCCAAGCTCATGGGAGCCCACGCACCGGGGAGAGCCCGGAGTGGAGGCTCTGGGCTCAGCCCTCCCAGGCCTAGGCCACCGTGCCCTGAGTCCCTCCCCAAGACTTCTCGGACTAAGTGGGCCAGACTCTTGTCAGGGGAGGGATCACCAGGACCTCAGATTGCTGGGGGCGGAGGGGTGGACGCTC... | ATTTGACTCTCACTTCCCGCCCTCAGACTGCCGGCGACGAAAATCCGCCCGAATCGGGCGCCACCTCTGGTGGAAGCTGCTGTCCTCGGCTTCTGCCCAACTCCAAGAAGCGGAAGGGGGGTGTATCCTGCGCCCCAAGCTCATGGGAGCCCACGCACCGGGGAGAGCCCGGAGTGGAGGCTCTGGGCTCAGCCCTCCCAGGCCTAGGCCACCGTGCCCTGAGTCCCTCCCCAAGACTTCTCGGACTAAGTGGGCCAGACTCTTGTCAGGGGAGGGATCACCAGGACCTCAGATTGCTGGGGGCGGAGGGGTGGACGCTC... |
Task1_train_15483 | A variant affecting Chromosome 11, within the gene PAX6 (paired box 6), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Aniridia 1 | TTTGACTCTCACTTCCCGCCCTCAGACTGCCGGCGACGAAAATCCGCCCGAATCGGGCGCCACCTCTGGTGGAAGCTGCTGTCCTCGGCTTCTGCCCAACTCCAAGAAGCGGAAGGGGGGTGTATCCTGCGCCCCAAGCTCATGGGAGCCCACGCACCGGGGAGAGCCCGGAGTGGAGGCTCTGGGCTCAGCCCTCCCAGGCCTAGGCCACCGTGCCCTGAGTCCCTCCCCAAGACTTCTCGGACTAAGTGGGCCAGACTCTTGTCAGGGGAGGGATCACCAGGACCTCAGATTGCTGGGGGCGGAGGGGTGGACGCTCG... | TTTGACTCTCACTTCCCGCCCTCAGACTGCCGGCGACGAAAATCCGCCCGAATCGGGCGCCACCTCTGGTGGAAGCTGCTGTCCTCGGCTTCTGCCCAACTCCAAGAAGCGGAAGGGGGGTGTATCCTGCGCCCCAAGCTCATGGGAGCCCACGCACCGGGGAGAGCCCGGAGTGGAGGCTCTGGGCTCAGCCCTCCCAGGCCTAGGCCACCGTGCCCTGAGTCCCTCCCCAAGACTTCTCGGACTAAGTGGGCCAGACTCTTGTCAGGGGAGGGATCACCAGGACCTCAGATTGCTGGGGGCGGAGGGGTGGACGCTCG... |
Task1_train_15484 | A variant found in Chromosome 11 affects PAX6 (paired box 6). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Irido-corneo-trabecular dysgenesis | TTTGACTCTCACTTCCCGCCCTCAGACTGCCGGCGACGAAAATCCGCCCGAATCGGGCGCCACCTCTGGTGGAAGCTGCTGTCCTCGGCTTCTGCCCAACTCCAAGAAGCGGAAGGGGGGTGTATCCTGCGCCCCAAGCTCATGGGAGCCCACGCACCGGGGAGAGCCCGGAGTGGAGGCTCTGGGCTCAGCCCTCCCAGGCCTAGGCCACCGTGCCCTGAGTCCCTCCCCAAGACTTCTCGGACTAAGTGGGCCAGACTCTTGTCAGGGGAGGGATCACCAGGACCTCAGATTGCTGGGGGCGGAGGGGTGGACGCTCG... | TTTGACTCTCACTTCCCGCCCTCAGACTGCCGGCGACGAAAATCCGCCCGAATCGGGCGCCACCTCTGGTGGAAGCTGCTGTCCTCGGCTTCTGCCCAACTCCAAGAAGCGGAAGGGGGGTGTATCCTGCGCCCCAAGCTCATGGGAGCCCACGCACCGGGGAGAGCCCGGAGTGGAGGCTCTGGGCTCAGCCCTCCCAGGCCTAGGCCACCGTGCCCTGAGTCCCTCCCCAAGACTTCTCGGACTAAGTGGGCCAGACTCTTGTCAGGGGAGGGATCACCAGGACCTCAGATTGCTGGGGGCGGAGGGGTGGACGCTCG... |
Task1_train_15485 | This alteration in PAX6 (paired box 6) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Congenital aniridia | CCCGCCCTCAGACTGCCGGCGACGAAAATCCGCCCGAATCGGGCGCCACCTCTGGTGGAAGCTGCTGTCCTCGGCTTCTGCCCAACTCCAAGAAGCGGAAGGGGGGTGTATCCTGCGCCCCAAGCTCATGGGAGCCCACGCACCGGGGAGAGCCCGGAGTGGAGGCTCTGGGCTCAGCCCTCCCAGGCCTAGGCCACCGTGCCCTGAGTCCCTCCCCAAGACTTCTCGGACTAAGTGGGCCAGACTCTTGTCAGGGGAGGGATCACCAGGACCTCAGATTGCTGGGGGCGGAGGGGTGGACGCTCGTGAGTGCGAAGTTC... | CCCGCCCTCAGACTGCCGGCGACGAAAATCCGCCCGAATCGGGCGCCACCTCTGGTGGAAGCTGCTGTCCTCGGCTTCTGCCCAACTCCAAGAAGCGGAAGGGGGGTGTATCCTGCGCCCCAAGCTCATGGGAGCCCACGCACCGGGGAGAGCCCGGAGTGGAGGCTCTGGGCTCAGCCCTCCCAGGCCTAGGCCACCGTGCCCTGAGTCCCTCCCCAAGACTTCTCGGACTAAGTGGGCCAGACTCTTGTCAGGGGAGGGATCACCAGGACCTCAGATTGCTGGGGGCGGAGGGGTGGACGCTCGTGAGTGCGAAGTTC... |
Task1_train_15486 | This alteration occurs within gene PAX6 (paired box 6) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Aniridia 1 | AGACGCTTATTCATGTCGCCTTAATGAGAAACAAAACGTTCTCTAATGAGCAATTACAGAGCGACAGGATTGTTCCCATAACAAATTCTTGCGAGTGACAGAAGCATCCTTTGTACCAGATATTTCGCATACTGTTACCGATTTTCCCTTCCCTCGCCCGACTCCATGGAGGCGCCGGGCATCCGGAGCCGGTCCGAGAGCTCACGGATGCGCCGGCAGCCTCCTCGCAGTCCCGCGCGCCGCCCCTGGCCCCGAGCCCCTCGGCTCCGTTGTGCTCCTGGGAGTGAGACGCCACGTCCCATTATCCCGCATATTATCTC... | AGACGCTTATTCATGTCGCCTTAATGAGAAACAAAACGTTCTCTAATGAGCAATTACAGAGCGACAGGATTGTTCCCATAACAAATTCTTGCGAGTGACAGAAGCATCCTTTGTACCAGATATTTCGCATACTGTTACCGATTTTCCCTTCCCTCGCCCGACTCCATGGAGGCGCCGGGCATCCGGAGCCGGTCCGAGAGCTCACGGATGCGCCGGCAGCCTCCTCGCAGTCCCGCGCGCCGCCCCTGGCCCCGAGCCCCTCGGCTCCGTTGTGCTCCTGGGAGTGAGACGCCACGTCCCATTATCCCGCATATTATCTC... |
Task1_train_15487 | Consider this mutation in PAX6 (paired box 6) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Aniridia 1 | CTCTAATGAGCAATTACAGAGCGACAGGATTGTTCCCATAACAAATTCTTGCGAGTGACAGAAGCATCCTTTGTACCAGATATTTCGCATACTGTTACCGATTTTCCCTTCCCTCGCCCGACTCCATGGAGGCGCCGGGCATCCGGAGCCGGTCCGAGAGCTCACGGATGCGCCGGCAGCCTCCTCGCAGTCCCGCGCGCCGCCCCTGGCCCCGAGCCCCTCGGCTCCGTTGTGCTCCTGGGAGTGAGACGCCACGTCCCATTATCCCGCATATTATCTCCTTGTCACGAGGACAACAAATACCGATTAATCTTCGGAGT... | CTCTAATGAGCAATTACAGAGCGACAGGATTGTTCCCATAACAAATTCTTGCGAGTGACAGAAGCATCCTTTGTACCAGATATTTCGCATACTGTTACCGATTTTCCCTTCCCTCGCCCGACTCCATGGAGGCGCCGGGCATCCGGAGCCGGTCCGAGAGCTCACGGATGCGCCGGCAGCCTCCTCGCAGTCCCGCGCGCCGCCCCTGGCCCCGAGCCCCTCGGCTCCGTTGTGCTCCTGGGAGTGAGACGCCACGTCCCATTATCCCGCATATTATCTCCTTGTCACGAGGACAACAAATACCGATTAATCTTCGGAGT... |
Task1_train_15488 | With a mutation on Chromosome 11 in gene PAX6 (paired box 6), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Irido-corneo-trabecular dysgenesis | CTCTAATGAGCAATTACAGAGCGACAGGATTGTTCCCATAACAAATTCTTGCGAGTGACAGAAGCATCCTTTGTACCAGATATTTCGCATACTGTTACCGATTTTCCCTTCCCTCGCCCGACTCCATGGAGGCGCCGGGCATCCGGAGCCGGTCCGAGAGCTCACGGATGCGCCGGCAGCCTCCTCGCAGTCCCGCGCGCCGCCCCTGGCCCCGAGCCCCTCGGCTCCGTTGTGCTCCTGGGAGTGAGACGCCACGTCCCATTATCCCGCATATTATCTCCTTGTCACGAGGACAACAAATACCGATTAATCTTCGGAGT... | CTCTAATGAGCAATTACAGAGCGACAGGATTGTTCCCATAACAAATTCTTGCGAGTGACAGAAGCATCCTTTGTACCAGATATTTCGCATACTGTTACCGATTTTCCCTTCCCTCGCCCGACTCCATGGAGGCGCCGGGCATCCGGAGCCGGTCCGAGAGCTCACGGATGCGCCGGCAGCCTCCTCGCAGTCCCGCGCGCCGCCCCTGGCCCCGAGCCCCTCGGCTCCGTTGTGCTCCTGGGAGTGAGACGCCACGTCCCATTATCCCGCATATTATCTCCTTGTCACGAGGACAACAAATACCGATTAATCTTCGGAGT... |
Task1_train_15489 | This variant affects gene PAX6 (paired box 6) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Aniridia 1 | ATTACAGAGCGACAGGATTGTTCCCATAACAAATTCTTGCGAGTGACAGAAGCATCCTTTGTACCAGATATTTCGCATACTGTTACCGATTTTCCCTTCCCTCGCCCGACTCCATGGAGGCGCCGGGCATCCGGAGCCGGTCCGAGAGCTCACGGATGCGCCGGCAGCCTCCTCGCAGTCCCGCGCGCCGCCCCTGGCCCCGAGCCCCTCGGCTCCGTTGTGCTCCTGGGAGTGAGACGCCACGTCCCATTATCCCGCATATTATCTCCTTGTCACGAGGACAACAAATACCGATTAATCTTCGGAGTAAACTGTTTCCT... | ATTACAGAGCGACAGGATTGTTCCCATAACAAATTCTTGCGAGTGACAGAAGCATCCTTTGTACCAGATATTTCGCATACTGTTACCGATTTTCCCTTCCCTCGCCCGACTCCATGGAGGCGCCGGGCATCCGGAGCCGGTCCGAGAGCTCACGGATGCGCCGGCAGCCTCCTCGCAGTCCCGCGCGCCGCCCCTGGCCCCGAGCCCCTCGGCTCCGTTGTGCTCCTGGGAGTGAGACGCCACGTCCCATTATCCCGCATATTATCTCCTTGTCACGAGGACAACAAATACCGATTAATCTTCGGAGTAAACTGTTTCCT... |
Task1_train_15490 | A variant was discovered on Chromosome 11, affecting PAX6 (paired box 6). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Aniridia 1 | TTCCCTTCCCTCGCCCGACTCCATGGAGGCGCCGGGCATCCGGAGCCGGTCCGAGAGCTCACGGATGCGCCGGCAGCCTCCTCGCAGTCCCGCGCGCCGCCCCTGGCCCCGAGCCCCTCGGCTCCGTTGTGCTCCTGGGAGTGAGACGCCACGTCCCATTATCCCGCATATTATCTCCTTGTCACGAGGACAACAAATACCGATTAATCTTCGGAGTAAACTGTTTCCTATTCTTGACCAAGCTACCTCGGGGTGTGGAGGGGAGCGGAGGGGAGCCAACTGACCCTCCCCTCCGCCCCACCCCCCCCATCCCCCGCTCT... | TTCCCTTCCCTCGCCCGACTCCATGGAGGCGCCGGGCATCCGGAGCCGGTCCGAGAGCTCACGGATGCGCCGGCAGCCTCCTCGCAGTCCCGCGCGCCGCCCCTGGCCCCGAGCCCCTCGGCTCCGTTGTGCTCCTGGGAGTGAGACGCCACGTCCCATTATCCCGCATATTATCTCCTTGTCACGAGGACAACAAATACCGATTAATCTTCGGAGTAAACTGTTTCCTATTCTTGACCAAGCTACCTCGGGGTGTGGAGGGGAGCGGAGGGGAGCCAACTGACCCTCCCCTCCGCCCCACCCCCCCCATCCCCCGCTCT... |
Task1_train_15491 | Gene PAX6 (paired box 6), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Irido-corneo-trabecular dysgenesis | TTCCCTTCCCTCGCCCGACTCCATGGAGGCGCCGGGCATCCGGAGCCGGTCCGAGAGCTCACGGATGCGCCGGCAGCCTCCTCGCAGTCCCGCGCGCCGCCCCTGGCCCCGAGCCCCTCGGCTCCGTTGTGCTCCTGGGAGTGAGACGCCACGTCCCATTATCCCGCATATTATCTCCTTGTCACGAGGACAACAAATACCGATTAATCTTCGGAGTAAACTGTTTCCTATTCTTGACCAAGCTACCTCGGGGTGTGGAGGGGAGCGGAGGGGAGCCAACTGACCCTCCCCTCCGCCCCACCCCCCCCATCCCCCGCTCT... | TTCCCTTCCCTCGCCCGACTCCATGGAGGCGCCGGGCATCCGGAGCCGGTCCGAGAGCTCACGGATGCGCCGGCAGCCTCCTCGCAGTCCCGCGCGCCGCCCCTGGCCCCGAGCCCCTCGGCTCCGTTGTGCTCCTGGGAGTGAGACGCCACGTCCCATTATCCCGCATATTATCTCCTTGTCACGAGGACAACAAATACCGATTAATCTTCGGAGTAAACTGTTTCCTATTCTTGACCAAGCTACCTCGGGGTGTGGAGGGGAGCGGAGGGGAGCCAACTGACCCTCCCCTCCGCCCCACCCCCCCCATCCCCCGCTCT... |
Task1_train_15492 | Given this context: Chromosome 11, gene PAX6 (paired box 6) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Coloboma of optic nerve | GCCCGACTCCATGGAGGCGCCGGGCATCCGGAGCCGGTCCGAGAGCTCACGGATGCGCCGGCAGCCTCCTCGCAGTCCCGCGCGCCGCCCCTGGCCCCGAGCCCCTCGGCTCCGTTGTGCTCCTGGGAGTGAGACGCCACGTCCCATTATCCCGCATATTATCTCCTTGTCACGAGGACAACAAATACCGATTAATCTTCGGAGTAAACTGTTTCCTATTCTTGACCAAGCTACCTCGGGGTGTGGAGGGGAGCGGAGGGGAGCCAACTGACCCTCCCCTCCGCCCCACCCCCCCCATCCCCCGCTCTTCTTCCTCCAGC... | GCCCGACTCCATGGAGGCGCCGGGCATCCGGAGCCGGTCCGAGAGCTCACGGATGCGCCGGCAGCCTCCTCGCAGTCCCGCGCGCCGCCCCTGGCCCCGAGCCCCTCGGCTCCGTTGTGCTCCTGGGAGTGAGACGCCACGTCCCATTATCCCGCATATTATCTCCTTGTCACGAGGACAACAAATACCGATTAATCTTCGGAGTAAACTGTTTCCTATTCTTGACCAAGCTACCTCGGGGTGTGGAGGGGAGCGGAGGGGAGCCAACTGACCCTCCCCTCCGCCCCACCCCCCCCATCCCCCGCTCTTCTTCCTCCAGC... |
Task1_train_15493 | Consider a variant on Chromosome 11 in gene PAX6 (paired box 6). Determine its clinical classification and disease relevance. | Pathogenic; Foveal hypoplasia 1 with cataract | TGGAGGCGCCGGGCATCCGGAGCCGGTCCGAGAGCTCACGGATGCGCCGGCAGCCTCCTCGCAGTCCCGCGCGCCGCCCCTGGCCCCGAGCCCCTCGGCTCCGTTGTGCTCCTGGGAGTGAGACGCCACGTCCCATTATCCCGCATATTATCTCCTTGTCACGAGGACAACAAATACCGATTAATCTTCGGAGTAAACTGTTTCCTATTCTTGACCAAGCTACCTCGGGGTGTGGAGGGGAGCGGAGGGGAGCCAACTGACCCTCCCCTCCGCCCCACCCCCCCCATCCCCCGCTCTTCTTCCTCCAGCCCTTCTCACAG... | TGGAGGCGCCGGGCATCCGGAGCCGGTCCGAGAGCTCACGGATGCGCCGGCAGCCTCCTCGCAGTCCCGCGCGCCGCCCCTGGCCCCGAGCCCCTCGGCTCCGTTGTGCTCCTGGGAGTGAGACGCCACGTCCCATTATCCCGCATATTATCTCCTTGTCACGAGGACAACAAATACCGATTAATCTTCGGAGTAAACTGTTTCCTATTCTTGACCAAGCTACCTCGGGGTGTGGAGGGGAGCGGAGGGGAGCCAACTGACCCTCCCCTCCGCCCCACCCCCCCCATCCCCCGCTCTTCTTCCTCCAGCCCTTCTCACAG... |
Task1_train_15494 | Consider this mutation in PAX6 (paired box 6) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Aniridia 1 | TGGAGGCGCCGGGCATCCGGAGCCGGTCCGAGAGCTCACGGATGCGCCGGCAGCCTCCTCGCAGTCCCGCGCGCCGCCCCTGGCCCCGAGCCCCTCGGCTCCGTTGTGCTCCTGGGAGTGAGACGCCACGTCCCATTATCCCGCATATTATCTCCTTGTCACGAGGACAACAAATACCGATTAATCTTCGGAGTAAACTGTTTCCTATTCTTGACCAAGCTACCTCGGGGTGTGGAGGGGAGCGGAGGGGAGCCAACTGACCCTCCCCTCCGCCCCACCCCCCCCATCCCCCGCTCTTCTTCCTCCAGCCCTTCTCACAG... | TGGAGGCGCCGGGCATCCGGAGCCGGTCCGAGAGCTCACGGATGCGCCGGCAGCCTCCTCGCAGTCCCGCGCGCCGCCCCTGGCCCCGAGCCCCTCGGCTCCGTTGTGCTCCTGGGAGTGAGACGCCACGTCCCATTATCCCGCATATTATCTCCTTGTCACGAGGACAACAAATACCGATTAATCTTCGGAGTAAACTGTTTCCTATTCTTGACCAAGCTACCTCGGGGTGTGGAGGGGAGCGGAGGGGAGCCAACTGACCCTCCCCTCCGCCCCACCCCCCCCATCCCCCGCTCTTCTTCCTCCAGCCCTTCTCACAG... |
Task1_train_15495 | A genetic alteration is present in PAX6 (paired box 6) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Aniridia 1 | GCTCACGGATGCGCCGGCAGCCTCCTCGCAGTCCCGCGCGCCGCCCCTGGCCCCGAGCCCCTCGGCTCCGTTGTGCTCCTGGGAGTGAGACGCCACGTCCCATTATCCCGCATATTATCTCCTTGTCACGAGGACAACAAATACCGATTAATCTTCGGAGTAAACTGTTTCCTATTCTTGACCAAGCTACCTCGGGGTGTGGAGGGGAGCGGAGGGGAGCCAACTGACCCTCCCCTCCGCCCCACCCCCCCCATCCCCCGCTCTTCTTCCTCCAGCCCTTCTCACAGAACCTGGGGTGTTTCAGGTCCCATCTCTCCTCC... | GCTCACGGATGCGCCGGCAGCCTCCTCGCAGTCCCGCGCGCCGCCCCTGGCCCCGAGCCCCTCGGCTCCGTTGTGCTCCTGGGAGTGAGACGCCACGTCCCATTATCCCGCATATTATCTCCTTGTCACGAGGACAACAAATACCGATTAATCTTCGGAGTAAACTGTTTCCTATTCTTGACCAAGCTACCTCGGGGTGTGGAGGGGAGCGGAGGGGAGCCAACTGACCCTCCCCTCCGCCCCACCCCCCCCATCCCCCGCTCTTCTTCCTCCAGCCCTTCTCACAGAACCTGGGGTGTTTCAGGTCCCATCTCTCCTCC... |
Task1_train_15496 | This variant impacts the gene PAX6 (paired box 6) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | GATGCGCCGGCAGCCTCCTCGCAGTCCCGCGCGCCGCCCCTGGCCCCGAGCCCCTCGGCTCCGTTGTGCTCCTGGGAGTGAGACGCCACGTCCCATTATCCCGCATATTATCTCCTTGTCACGAGGACAACAAATACCGATTAATCTTCGGAGTAAACTGTTTCCTATTCTTGACCAAGCTACCTCGGGGTGTGGAGGGGAGCGGAGGGGAGCCAACTGACCCTCCCCTCCGCCCCACCCCCCCCATCCCCCGCTCTTCTTCCTCCAGCCCTTCTCACAGAACCTGGGGTGTTTCAGGTCCCATCTCTCCTCCCAGACCA... | GATGCGCCGGCAGCCTCCTCGCAGTCCCGCGCGCCGCCCCTGGCCCCGAGCCCCTCGGCTCCGTTGTGCTCCTGGGAGTGAGACGCCACGTCCCATTATCCCGCATATTATCTCCTTGTCACGAGGACAACAAATACCGATTAATCTTCGGAGTAAACTGTTTCCTATTCTTGACCAAGCTACCTCGGGGTGTGGAGGGGAGCGGAGGGGAGCCAACTGACCCTCCCCTCCGCCCCACCCCCCCCATCCCCCGCTCTTCTTCCTCCAGCCCTTCTCACAGAACCTGGGGTGTTTCAGGTCCCATCTCTCCTCCCAGACCA... |
Task1_train_15497 | This genomic variant is located on Chromosome 11, within the PAX6 (paired box 6) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES | ACAACAAATACCGATTAATCTTCGGAGTAAACTGTTTCCTATTCTTGACCAAGCTACCTCGGGGTGTGGAGGGGAGCGGAGGGGAGCCAACTGACCCTCCCCTCCGCCCCACCCCCCCCATCCCCCGCTCTTCTTCCTCCAGCCCTTCTCACAGAACCTGGGGTGTTTCAGGTCCCATCTCTCCTCCCAGACCAGAGCGGCTCCCGGCATCCCGCCGTCCTGCTCACAGTATCTTCACCTCACCACTTCCACATAGTCGCCACCCACAGAGAGTGAGAAAGTGGGACCCAGAGGGGCGAACGGGGGAGGGGCAAGGATAG... | ACAACAAATACCGATTAATCTTCGGAGTAAACTGTTTCCTATTCTTGACCAAGCTACCTCGGGGTGTGGAGGGGAGCGGAGGGGAGCCAACTGACCCTCCCCTCCGCCCCACCCCCCCCATCCCCCGCTCTTCTTCCTCCAGCCCTTCTCACAGAACCTGGGGTGTTTCAGGTCCCATCTCTCCTCCCAGACCAGAGCGGCTCCCGGCATCCCGCCGTCCTGCTCACAGTATCTTCACCTCACCACTTCCACATAGTCGCCACCCACAGAGAGTGAGAAAGTGGGACCCAGAGGGGCGAACGGGGGAGGGGCAAGGATAG... |
Task1_train_15498 | Chromosome 11 houses a mutation in gene PAX6 (paired box 6). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Foveal hypoplasia 1 with or without anterior segment anomalies | ACAACAAATACCGATTAATCTTCGGAGTAAACTGTTTCCTATTCTTGACCAAGCTACCTCGGGGTGTGGAGGGGAGCGGAGGGGAGCCAACTGACCCTCCCCTCCGCCCCACCCCCCCCATCCCCCGCTCTTCTTCCTCCAGCCCTTCTCACAGAACCTGGGGTGTTTCAGGTCCCATCTCTCCTCCCAGACCAGAGCGGCTCCCGGCATCCCGCCGTCCTGCTCACAGTATCTTCACCTCACCACTTCCACATAGTCGCCACCCACAGAGAGTGAGAAAGTGGGACCCAGAGGGGCGAACGGGGGAGGGGCAAGGATAG... | ACAACAAATACCGATTAATCTTCGGAGTAAACTGTTTCCTATTCTTGACCAAGCTACCTCGGGGTGTGGAGGGGAGCGGAGGGGAGCCAACTGACCCTCCCCTCCGCCCCACCCCCCCCATCCCCCGCTCTTCTTCCTCCAGCCCTTCTCACAGAACCTGGGGTGTTTCAGGTCCCATCTCTCCTCCCAGACCAGAGCGGCTCCCGGCATCCCGCCGTCCTGCTCACAGTATCTTCACCTCACCACTTCCACATAGTCGCCACCCACAGAGAGTGAGAAAGTGGGACCCAGAGGGGCGAACGGGGGAGGGGCAAGGATAG... |
Task1_train_15499 | Given a variant located on Chromosome 11 and affecting PAX6 (paired box 6), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Aniridia 1 | ACATATGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAG... | ACATATGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAG... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.