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_26200 | A variant was discovered on Chromosome 19, affecting ELANE (elastase, neutrophil expressed). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Neutropenia, severe congenital, 1, autosomal dominant | AGGGCTTCAGGGAAGCTCACCAAGGCAGAAGGGCGGGAGAGATTGTCAGAGCCCCAGCTGGTGTCCAGGGACTGACCGTGAGCCTGGGTGAAAGTGAGTTCCCCGTTGGAGGCAACAGACGAGGAGAGGATGGAAGGCCTGGCCCCCAAGAATGAGCCCTGAGGTTCAGGGAGCGGCTGGAGTGAGCCGGCCCCAGATCTCCGTCCAGCTGCGGGTCCCAGAGGCCTGGGTTACACTCGCAGCTCCTGGGGGAGGCCCTTGACGTGCCTCAGTTCCCAAACAGGAACCCTGGGAAGGACCAGAGAAGTGCCTATTGCGCA... | AGGGCTTCAGGGAAGCTCACCAAGGCAGAAGGGCGGGAGAGATTGTCAGAGCCCCAGCTGGTGTCCAGGGACTGACCGTGAGCCTGGGTGAAAGTGAGTTCCCCGTTGGAGGCAACAGACGAGGAGAGGATGGAAGGCCTGGCCCCCAAGAATGAGCCCTGAGGTTCAGGGAGCGGCTGGAGTGAGCCGGCCCCAGATCTCCGTCCAGCTGCGGGTCCCAGAGGCCTGGGTTACACTCGCAGCTCCTGGGGGAGGCCCTTGACGTGCCTCAGTTCCCAAACAGGAACCCTGGGAAGGACCAGAGAAGTGCCTATTGCGCA... |
Task1_train_26201 | Given a variant located on Chromosome 19 and affecting ELANE (elastase, neutrophil expressed), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Autoinflammatory syndrome | AGGGCTTCAGGGAAGCTCACCAAGGCAGAAGGGCGGGAGAGATTGTCAGAGCCCCAGCTGGTGTCCAGGGACTGACCGTGAGCCTGGGTGAAAGTGAGTTCCCCGTTGGAGGCAACAGACGAGGAGAGGATGGAAGGCCTGGCCCCCAAGAATGAGCCCTGAGGTTCAGGGAGCGGCTGGAGTGAGCCGGCCCCAGATCTCCGTCCAGCTGCGGGTCCCAGAGGCCTGGGTTACACTCGCAGCTCCTGGGGGAGGCCCTTGACGTGCCTCAGTTCCCAAACAGGAACCCTGGGAAGGACCAGAGAAGTGCCTATTGCGCA... | AGGGCTTCAGGGAAGCTCACCAAGGCAGAAGGGCGGGAGAGATTGTCAGAGCCCCAGCTGGTGTCCAGGGACTGACCGTGAGCCTGGGTGAAAGTGAGTTCCCCGTTGGAGGCAACAGACGAGGAGAGGATGGAAGGCCTGGCCCCCAAGAATGAGCCCTGAGGTTCAGGGAGCGGCTGGAGTGAGCCGGCCCCAGATCTCCGTCCAGCTGCGGGTCCCAGAGGCCTGGGTTACACTCGCAGCTCCTGGGGGAGGCCCTTGACGTGCCTCAGTTCCCAAACAGGAACCCTGGGAAGGACCAGAGAAGTGCCTATTGCGCA... |
Task1_train_26202 | Gene ELANE (elastase, neutrophil expressed) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Neutropenia, severe congenital, 1, autosomal dominant | AGGGCGGGAGAGATTGTCAGAGCCCCAGCTGGTGTCCAGGGACTGACCGTGAGCCTGGGTGAAAGTGAGTTCCCCGTTGGAGGCAACAGACGAGGAGAGGATGGAAGGCCTGGCCCCCAAGAATGAGCCCTGAGGTTCAGGGAGCGGCTGGAGTGAGCCGGCCCCAGATCTCCGTCCAGCTGCGGGTCCCAGAGGCCTGGGTTACACTCGCAGCTCCTGGGGGAGGCCCTTGACGTGCCTCAGTTCCCAAACAGGAACCCTGGGAAGGACCAGAGAAGTGCCTATTGCGCAGTGAGTGCCCGACACAGCTGCATGTGGCC... | AGGGCGGGAGAGATTGTCAGAGCCCCAGCTGGTGTCCAGGGACTGACCGTGAGCCTGGGTGAAAGTGAGTTCCCCGTTGGAGGCAACAGACGAGGAGAGGATGGAAGGCCTGGCCCCCAAGAATGAGCCCTGAGGTTCAGGGAGCGGCTGGAGTGAGCCGGCCCCAGATCTCCGTCCAGCTGCGGGTCCCAGAGGCCTGGGTTACACTCGCAGCTCCTGGGGGAGGCCCTTGACGTGCCTCAGTTCCCAAACAGGAACCCTGGGAAGGACCAGAGAAGTGCCTATTGCGCAGTGAGTGCCCGACACAGCTGCATGTGGCC... |
Task1_train_26203 | Mutation context: Chromosome 19, Gene ELANE (elastase, neutrophil expressed). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Cyclical neutropenia | GCGGGAGAGATTGTCAGAGCCCCAGCTGGTGTCCAGGGACTGACCGTGAGCCTGGGTGAAAGTGAGTTCCCCGTTGGAGGCAACAGACGAGGAGAGGATGGAAGGCCTGGCCCCCAAGAATGAGCCCTGAGGTTCAGGGAGCGGCTGGAGTGAGCCGGCCCCAGATCTCCGTCCAGCTGCGGGTCCCAGAGGCCTGGGTTACACTCGCAGCTCCTGGGGGAGGCCCTTGACGTGCCTCAGTTCCCAAACAGGAACCCTGGGAAGGACCAGAGAAGTGCCTATTGCGCAGTGAGTGCCCGACACAGCTGCATGTGGCCGGT... | GCGGGAGAGATTGTCAGAGCCCCAGCTGGTGTCCAGGGACTGACCGTGAGCCTGGGTGAAAGTGAGTTCCCCGTTGGAGGCAACAGACGAGGAGAGGATGGAAGGCCTGGCCCCCAAGAATGAGCCCTGAGGTTCAGGGAGCGGCTGGAGTGAGCCGGCCCCAGATCTCCGTCCAGCTGCGGGTCCCAGAGGCCTGGGTTACACTCGCAGCTCCTGGGGGAGGCCCTTGACGTGCCTCAGTTCCCAAACAGGAACCCTGGGAAGGACCAGAGAAGTGCCTATTGCGCAGTGAGTGCCCGACACAGCTGCATGTGGCCGGT... |
Task1_train_26204 | This mutation occurs in ELANE (elastase, neutrophil expressed) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Neutropenia, severe congenital, 1, autosomal dominant | GCGGGAGAGATTGTCAGAGCCCCAGCTGGTGTCCAGGGACTGACCGTGAGCCTGGGTGAAAGTGAGTTCCCCGTTGGAGGCAACAGACGAGGAGAGGATGGAAGGCCTGGCCCCCAAGAATGAGCCCTGAGGTTCAGGGAGCGGCTGGAGTGAGCCGGCCCCAGATCTCCGTCCAGCTGCGGGTCCCAGAGGCCTGGGTTACACTCGCAGCTCCTGGGGGAGGCCCTTGACGTGCCTCAGTTCCCAAACAGGAACCCTGGGAAGGACCAGAGAAGTGCCTATTGCGCAGTGAGTGCCCGACACAGCTGCATGTGGCCGGT... | GCGGGAGAGATTGTCAGAGCCCCAGCTGGTGTCCAGGGACTGACCGTGAGCCTGGGTGAAAGTGAGTTCCCCGTTGGAGGCAACAGACGAGGAGAGGATGGAAGGCCTGGCCCCCAAGAATGAGCCCTGAGGTTCAGGGAGCGGCTGGAGTGAGCCGGCCCCAGATCTCCGTCCAGCTGCGGGTCCCAGAGGCCTGGGTTACACTCGCAGCTCCTGGGGGAGGCCCTTGACGTGCCTCAGTTCCCAAACAGGAACCCTGGGAAGGACCAGAGAAGTGCCTATTGCGCAGTGAGTGCCCGACACAGCTGCATGTGGCCGGT... |
Task1_train_26205 | Here is a mutation in ELANE (elastase, neutrophil expressed) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Cyclical neutropenia | AGAGAAGTGCCTATTGCGCAGTGAGTGCCCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGTATCACAGGGCCCTGGGTAAACTGAGGCAGGTGACACAGCTGCATGTGGCCGGTATCACGGGGCCCTGGATAAACAGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCA... | AGAGAAGTGCCTATTGCGCAGTGAGTGCCCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGTATCACAGGGCCCTGGGTAAACTGAGGCAGGTGACACAGCTGCATGTGGCCGGTATCACGGGGCCCTGGATAAACAGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCA... |
Task1_train_26206 | This variant impacts the gene ELANE (elastase, neutrophil expressed) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; Neutropenia, severe congenital, 1, autosomal dominant | AGAGAAGTGCCTATTGCGCAGTGAGTGCCCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGTATCACAGGGCCCTGGGTAAACTGAGGCAGGTGACACAGCTGCATGTGGCCGGTATCACGGGGCCCTGGATAAACAGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCA... | AGAGAAGTGCCTATTGCGCAGTGAGTGCCCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGTATCACAGGGCCCTGGGTAAACTGAGGCAGGTGACACAGCTGCATGTGGCCGGTATCACGGGGCCCTGGATAAACAGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCA... |
Task1_train_26207 | The gene ELANE (elastase, neutrophil expressed) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cyclical neutropenia | CGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGTATCACAGGGCCCTGGGTAAACTGAGGCAGGTGACACAGCTGCATGTGGCCGGTATCACGGGGCCCTGGATAAACAGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACGGGGCCCTGGGTAAACTGAGGCAGGCGAGGCCACCCCCATCAAGTCC... | CGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGTATCACAGGGCCCTGGGTAAACTGAGGCAGGTGACACAGCTGCATGTGGCCGGTATCACGGGGCCCTGGATAAACAGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACGGGGCCCTGGGTAAACTGAGGCAGGCGAGGCCACCCCCATCAAGTCC... |
Task1_train_26208 | This variant affects the gene ELANE (elastase, neutrophil expressed) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Neutropenia, severe congenital, 1, autosomal dominant | CGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGTATCACAGGGCCCTGGGTAAACTGAGGCAGGTGACACAGCTGCATGTGGCCGGTATCACGGGGCCCTGGATAAACAGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACGGGGCCCTGGGTAAACTGAGGCAGGCGAGGCCACCCCCATCAAGTCC... | CGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGTATCACAGGGCCCTGGGTAAACTGAGGCAGGTGACACAGCTGCATGTGGCCGGTATCACGGGGCCCTGGATAAACAGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACGGGGCCCTGGGTAAACTGAGGCAGGCGAGGCCACCCCCATCAAGTCC... |
Task1_train_26209 | A genomic change on Chromosome 19 affects ELANE (elastase, neutrophil expressed). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Cyclical neutropenia | ACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGTATCACAGGGCCCTGGGTAAACTGAGGCAGGTGACACAGCTGCATGTGGCCGGTATCACGGGGCCCTGGATAAACAGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACGGGGCCCTGGGTAAACTGAGGCAGGCGAGGCCACCCCCATCAAGTCCCTCAGGT... | ACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGTATCACAGGGCCCTGGGTAAACTGAGGCAGGTGACACAGCTGCATGTGGCCGGTATCACGGGGCCCTGGATAAACAGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACGGGGCCCTGGGTAAACTGAGGCAGGCGAGGCCACCCCCATCAAGTCCCTCAGGT... |
Task1_train_26210 | A genetic alteration is present in ELANE (elastase, neutrophil expressed) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Neutropenia, severe congenital, 1, autosomal dominant | ACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGTATCACAGGGCCCTGGGTAAACTGAGGCAGGTGACACAGCTGCATGTGGCCGGTATCACGGGGCCCTGGATAAACAGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACGGGGCCCTGGGTAAACTGAGGCAGGCGAGGCCACCCCCATCAAGTCCCTCAGGT... | ACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGGCAGGCGACACAGCTGCATGTGGCCGTATCACAGGGCCCTGGGTAAACTGAGGCAGGTGACACAGCTGCATGTGGCCGGTATCACGGGGCCCTGGATAAACAGAGGCAGGCGACACAGCTGCATGTGGCCGGTATCACGGGGCCCTGGGTAAACTGAGGCAGGCGAGGCCACCCCCATCAAGTCCCTCAGGT... |
Task1_train_26211 | This sequence variant lies in ELANE (elastase, neutrophil expressed) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Cyclical neutropenia | TGGTCCCCTCTCCGCGCCTCGGTCTGCACCTCTGTGAAACGGGAAAATACCCGCCATGGGCCGTTGAGGGGTTAAATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCA... | TGGTCCCCTCTCCGCGCCTCGGTCTGCACCTCTGTGAAACGGGAAAATACCCGCCATGGGCCGTTGAGGGGTTAAATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCA... |
Task1_train_26212 | A variant found in Chromosome 19 affects ELANE (elastase, neutrophil expressed). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Neutropenia, severe congenital, 1, autosomal dominant | TGGTCCCCTCTCCGCGCCTCGGTCTGCACCTCTGTGAAACGGGAAAATACCCGCCATGGGCCGTTGAGGGGTTAAATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCA... | TGGTCCCCTCTCCGCGCCTCGGTCTGCACCTCTGTGAAACGGGAAAATACCCGCCATGGGCCGTTGAGGGGTTAAATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCA... |
Task1_train_26213 | Here is a variant affecting CFD, ELANE (complement factor D| elastase, neutrophil expressed) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Neutropenia, severe congenital, 1, autosomal dominant | TGGTCCCCTCTCCGCGCCTCGGTCTGCACCTCTGTGAAACGGGAAAATACCCGCCATGGGCCGTTGAGGGGTTAAATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCA... | TGGTCCCCTCTCCGCGCCTCGGTCTGCACCTCTGTGAAACGGGAAAATACCCGCCATGGGCCGTTGAGGGGTTAAATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCA... |
Task1_train_26214 | Here is a variant affecting CFD, ELANE (complement factor D| elastase, neutrophil expressed) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Cyclical neutropenia | TGGTCCCCTCTCCGCGCCTCGGTCTGCACCTCTGTGAAACGGGAAAATACCCGCCATGGGCCGTTGAGGGGTTAAATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCA... | TGGTCCCCTCTCCGCGCCTCGGTCTGCACCTCTGTGAAACGGGAAAATACCCGCCATGGGCCGTTGAGGGGTTAAATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCA... |
Task1_train_26215 | The gene CFD, ELANE (complement factor D| elastase, neutrophil expressed) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not specified | TGGTCCCCTCTCCGCGCCTCGGTCTGCACCTCTGTGAAACGGGAAAATACCCGCCATGGGCCGTTGAGGGGTTAAATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCA... | TGGTCCCCTCTCCGCGCCTCGGTCTGCACCTCTGTGAAACGGGAAAATACCCGCCATGGGCCGTTGAGGGGTTAAATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCA... |
Task1_train_26216 | This variant impacts the gene CFD, ELANE (complement factor D| elastase, neutrophil expressed) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; Cyclical neutropenia | TGGTCCCCTCTCCGCGCCTCGGTCTGCACCTCTGTGAAACGGGAAAATACCCGCCATGGGCCGTTGAGGGGTTAAATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCA... | TGGTCCCCTCTCCGCGCCTCGGTCTGCACCTCTGTGAAACGGGAAAATACCCGCCATGGGCCGTTGAGGGGTTAAATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCA... |
Task1_train_26217 | This variant impacts the gene CFD, ELANE (complement factor D| elastase, neutrophil expressed) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; Neutropenia, severe congenital, 1, autosomal dominant | TGGTCCCCTCTCCGCGCCTCGGTCTGCACCTCTGTGAAACGGGAAAATACCCGCCATGGGCCGTTGAGGGGTTAAATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCA... | TGGTCCCCTCTCCGCGCCTCGGTCTGCACCTCTGTGAAACGGGAAAATACCCGCCATGGGCCGTTGAGGGGTTAAATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCA... |
Task1_train_26218 | The gene ELANE (elastase, neutrophil expressed) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Cyclical neutropenia | CGGGAAAATACCCGCCATGGGCCGTTGAGGGGTTAAATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTG... | CGGGAAAATACCCGCCATGGGCCGTTGAGGGGTTAAATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTG... |
Task1_train_26219 | This variant impacts the gene ELANE (elastase, neutrophil expressed) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; Neutropenia, severe congenital, 1, autosomal dominant | CGGGAAAATACCCGCCATGGGCCGTTGAGGGGTTAAATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTG... | CGGGAAAATACCCGCCATGGGCCGTTGAGGGGTTAAATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTG... |
Task1_train_26220 | Gene ELANE (elastase, neutrophil expressed) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Neutropenia, severe congenital, 1, autosomal dominant | ATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGAT... | ATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGAT... |
Task1_train_26221 | This gene mutation involves ELANE (elastase, neutrophil expressed) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; Neutropenia, severe congenital, 1, autosomal dominant | ATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGAT... | ATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGAT... |
Task1_train_26222 | A variant on Chromosome 19 in gene ELANE (elastase, neutrophil expressed) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Cyclical neutropenia | ATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGAT... | ATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGAT... |
Task1_train_26223 | This mutation occurs in ELANE (elastase, neutrophil expressed) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Neutropenia, severe congenital, 1, autosomal dominant | ATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGAT... | ATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGAT... |
Task1_train_26224 | Consider this mutation in ELANE (elastase, neutrophil expressed) on Chromosome 19. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | ATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGAT... | ATGAGATCCTGCAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGAT... |
Task1_train_26225 | A mutation on Chromosome 19 affecting CFD, ELANE (complement factor D| elastase, neutrophil expressed) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Neutropenia, severe congenital, 1, autosomal dominant | ATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGATTCTTTGTGTCTCTCCATTCACCAGTCCTGTGGCCCAGGGCAGGGGCCGCCTCTGTCTTTGGGAAAAGGGGCAAAAGTCCCCACCTTTCCACCCCTGTCCGCGGCTTGCAGTTCTGGTTATTTCCTGGGCGCCGGGCCCCGTGGCTCAGGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGTGTT... | ATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGATTCTTTGTGTCTCTCCATTCACCAGTCCTGTGGCCCAGGGCAGGGGCCGCCTCTGTCTTTGGGAAAAGGGGCAAAAGTCCCCACCTTTCCACCCCTGTCCGCGGCTTGCAGTTCTGGTTATTTCCTGGGCGCCGGGCCCCGTGGCTCAGGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGTGTT... |
Task1_train_26226 | A variant has been detected on Chromosome 19 in CFD, ELANE (complement factor D| elastase, neutrophil expressed). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Cyclical neutropenia | ATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGATTCTTTGTGTCTCTCCATTCACCAGTCCTGTGGCCCAGGGCAGGGGCCGCCTCTGTCTTTGGGAAAAGGGGCAAAAGTCCCCACCTTTCCACCCCTGTCCGCGGCTTGCAGTTCTGGTTATTTCCTGGGCGCCGGGCCCCGTGGCTCAGGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGTGTT... | ATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGATTCTTTGTGTCTCTCCATTCACCAGTCCTGTGGCCCAGGGCAGGGGCCGCCTCTGTCTTTGGGAAAAGGGGCAAAAGTCCCCACCTTTCCACCCCTGTCCGCGGCTTGCAGTTCTGGTTATTTCCTGGGCGCCGGGCCCCGTGGCTCAGGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGTGTT... |
Task1_train_26227 | A mutation in CFD, ELANE (complement factor D| elastase, neutrophil expressed), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Neutropenia, severe congenital, 1, autosomal dominant | ATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGATTCTTTGTGTCTCTCCATTCACCAGTCCTGTGGCCCAGGGCAGGGGCCGCCTCTGTCTTTGGGAAAAGGGGCAAAAGTCCCCACCTTTCCACCCCTGTCCGCGGCTTGCAGTTCTGGTTATTTCCTGGGCGCCGGGCCCCGTGGCTCAGGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGTGTT... | ATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGATTCTTTGTGTCTCTCCATTCACCAGTCCTGTGGCCCAGGGCAGGGGCCGCCTCTGTCTTTGGGAAAAGGGGCAAAAGTCCCCACCTTTCCACCCCTGTCCGCGGCTTGCAGTTCTGGTTATTTCCTGGGCGCCGGGCCCCGTGGCTCAGGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGTGTT... |
Task1_train_26228 | Chromosome 19 houses a mutation in gene ELANE (elastase, neutrophil expressed). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Cyclical neutropenia | ATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGATTCTTTGTGTCTCTCCATTCACCAGTCCTGTGGCCCAGGGCAGGGGCCGCCTCTGTCTTTGGGAAAAGGGGCAAAAGTCCCCACCTTTCCACCCCTGTCCGCGGCTTGCAGTTCTGGTTATTTCCTGGGCGCCGGGCCCCGTGGCTCAGGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGTGTTCGAGACCAGCC... | ATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGATTCTTTGTGTCTCTCCATTCACCAGTCCTGTGGCCCAGGGCAGGGGCCGCCTCTGTCTTTGGGAAAAGGGGCAAAAGTCCCCACCTTTCCACCCCTGTCCGCGGCTTGCAGTTCTGGTTATTTCCTGGGCGCCGGGCCCCGTGGCTCAGGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGTGTTCGAGACCAGCC... |
Task1_train_26229 | Given a variant located on Chromosome 19 and affecting ELANE (elastase, neutrophil expressed), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cyclical neutropenia | TTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGATTCTTTGTGTCTCTCCATTCACCAGTCCTGTGGCCCAGGGCAGGGGCCGCCTCTGTCTTTGGGAAAAGGGGCAAAAGTCCCCACCTTTCCACCCCTGTCCGCGGCTTGCAGTTCTGGTTATTTCCTGGGCGCCGGGCCCCGTGGCTCAGGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGTGTTCGAGACCAGCCTGAGCAACAT... | TTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGATTCTTTGTGTCTCTCCATTCACCAGTCCTGTGGCCCAGGGCAGGGGCCGCCTCTGTCTTTGGGAAAAGGGGCAAAAGTCCCCACCTTTCCACCCCTGTCCGCGGCTTGCAGTTCTGGTTATTTCCTGGGCGCCGGGCCCCGTGGCTCAGGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGTGTTCGAGACCAGCCTGAGCAACAT... |
Task1_train_26230 | This variant lies on Chromosome 19 and affects the gene ELANE (elastase, neutrophil expressed). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Neutropenia, severe congenital, 1, autosomal dominant | TTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGATTCTTTGTGTCTCTCCATTCACCAGTCCTGTGGCCCAGGGCAGGGGCCGCCTCTGTCTTTGGGAAAAGGGGCAAAAGTCCCCACCTTTCCACCCCTGTCCGCGGCTTGCAGTTCTGGTTATTTCCTGGGCGCCGGGCCCCGTGGCTCAGGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGTGTTCGAGACCAGCCTGAGCAACAT... | TTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGATTCTTTGTGTCTCTCCATTCACCAGTCCTGTGGCCCAGGGCAGGGGCCGCCTCTGTCTTTGGGAAAAGGGGCAAAAGTCCCCACCTTTCCACCCCTGTCCGCGGCTTGCAGTTCTGGTTATTTCCTGGGCGCCGGGCCCCGTGGCTCAGGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGTGTTCGAGACCAGCCTGAGCAACAT... |
Task1_train_26231 | This alteration in ELANE (elastase, neutrophil expressed) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Cyclical neutropenia | GAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGATTCTTTGTGTCTCTCCATTCACCAGTCCTGTGGCCCAGGGCAGGGGCCGCCTCTGTCTTTGGGAAAAGGGGCAAAAGTCCCCACCTTTCCACCCCTGTCCGCGGCTTGCAGTTCTGGTTATTTCCTGGGCGCCGGGCCCCGTGGCTCAGGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGTGTTCGAGACCAGCCTGAGCAACATAGTGAAACCCCG... | GAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGATTCTTTGTGTCTCTCCATTCACCAGTCCTGTGGCCCAGGGCAGGGGCCGCCTCTGTCTTTGGGAAAAGGGGCAAAAGTCCCCACCTTTCCACCCCTGTCCGCGGCTTGCAGTTCTGGTTATTTCCTGGGCGCCGGGCCCCGTGGCTCAGGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGTGTTCGAGACCAGCCTGAGCAACATAGTGAAACCCCG... |
Task1_train_26232 | An alteration has been detected in ELANE (elastase, neutrophil expressed) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Neutropenia, severe congenital, 1, autosomal dominant | GAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGATTCTTTGTGTCTCTCCATTCACCAGTCCTGTGGCCCAGGGCAGGGGCCGCCTCTGTCTTTGGGAAAAGGGGCAAAAGTCCCCACCTTTCCACCCCTGTCCGCGGCTTGCAGTTCTGGTTATTTCCTGGGCGCCGGGCCCCGTGGCTCAGGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGTGTTCGAGACCAGCCTGAGCAACATAGTGAAACCCCG... | GAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGATTCTTTGTGTCTCTCCATTCACCAGTCCTGTGGCCCAGGGCAGGGGCCGCCTCTGTCTTTGGGAAAAGGGGCAAAAGTCCCCACCTTTCCACCCCTGTCCGCGGCTTGCAGTTCTGGTTATTTCCTGGGCGCCGGGCCCCGTGGCTCAGGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGTGTTCGAGACCAGCCTGAGCAACATAGTGAAACCCCG... |
Task1_train_26233 | This genomic variant is located on Chromosome 19, within the ELANE (elastase, neutrophil expressed) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cyclical neutropenia | GAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGATTCTTTGTGTCTCTCCATTCACCAGTCCTGTGGCCCAGGGCAGGGGCCGCCTCTGTCTTTGGGAAAAGGGGCAAAAGTCCCCACCTTTCCACCCCTGTCCGCGGCTTGCAGTTCTGGTTATTTCCTGGGCGCCGGGCCCCGTGGCTCAGGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGTGTTCGAGACCAGCCTGAGCAACATAGTGAAACCCCG... | GAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGATTCTTTGTGTCTCTCCATTCACCAGTCCTGTGGCCCAGGGCAGGGGCCGCCTCTGTCTTTGGGAAAAGGGGCAAAAGTCCCCACCTTTCCACCCCTGTCCGCGGCTTGCAGTTCTGGTTATTTCCTGGGCGCCGGGCCCCGTGGCTCAGGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGTGTTCGAGACCAGCCTGAGCAACATAGTGAAACCCCG... |
Task1_train_26234 | Chromosome 19 houses a mutation in gene ELANE (elastase, neutrophil expressed). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Neutropenia, severe congenital, 1, autosomal dominant | GAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGATTCTTTGTGTCTCTCCATTCACCAGTCCTGTGGCCCAGGGCAGGGGCCGCCTCTGTCTTTGGGAAAAGGGGCAAAAGTCCCCACCTTTCCACCCCTGTCCGCGGCTTGCAGTTCTGGTTATTTCCTGGGCGCCGGGCCCCGTGGCTCAGGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGTGTTCGAGACCAGCCTGAGCAACATAGTGAAACCCCG... | GAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGATTCTTTGTGTCTCTCCATTCACCAGTCCTGTGGCCCAGGGCAGGGGCCGCCTCTGTCTTTGGGAAAAGGGGCAAAAGTCCCCACCTTTCCACCCCTGTCCGCGGCTTGCAGTTCTGGTTATTTCCTGGGCGCCGGGCCCCGTGGCTCAGGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGTGTTCGAGACCAGCCTGAGCAACATAGTGAAACCCCG... |
Task1_train_26235 | This variant affects gene ELANE (elastase, neutrophil expressed) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; Cyclical neutropenia | AATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGATTCTTTGTGTCTCTCCATTCACCAGTCCTGTGGCCCAGGGCAGGGGCCGCCTCTGTCTTTGGGAAAAGGGGCAAAAGTCCCCACCTTTCCACCCCTGTCCGCGGCTTGCAGTTCTGGTTATTTCCTGGGCGCCGGGCCCCGTGGCTCAGGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGTGTTCGAGACCAGCCTGAGCAACATAGTGAAACCCCGTCTCTACTAAAATACAAAA... | AATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGATTCTTTGTGTCTCTCCATTCACCAGTCCTGTGGCCCAGGGCAGGGGCCGCCTCTGTCTTTGGGAAAAGGGGCAAAAGTCCCCACCTTTCCACCCCTGTCCGCGGCTTGCAGTTCTGGTTATTTCCTGGGCGCCGGGCCCCGTGGCTCAGGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGTGTTCGAGACCAGCCTGAGCAACATAGTGAAACCCCGTCTCTACTAAAATACAAAA... |
Task1_train_26236 | Consider this mutation in ELANE (elastase, neutrophil expressed) on Chromosome 19. Is this a benign change or a disease-causing variant? | Pathogenic; Neutropenia, severe congenital, 1, autosomal dominant | AATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGATTCTTTGTGTCTCTCCATTCACCAGTCCTGTGGCCCAGGGCAGGGGCCGCCTCTGTCTTTGGGAAAAGGGGCAAAAGTCCCCACCTTTCCACCCCTGTCCGCGGCTTGCAGTTCTGGTTATTTCCTGGGCGCCGGGCCCCGTGGCTCAGGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGTGTTCGAGACCAGCCTGAGCAACATAGTGAAACCCCGTCTCTACTAAAATACAAAA... | AATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGATTCTTTGTGTCTCTCCATTCACCAGTCCTGTGGCCCAGGGCAGGGGCCGCCTCTGTCTTTGGGAAAAGGGGCAAAAGTCCCCACCTTTCCACCCCTGTCCGCGGCTTGCAGTTCTGGTTATTTCCTGGGCGCCGGGCCCCGTGGCTCAGGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGTGTTCGAGACCAGCCTGAGCAACATAGTGAAACCCCGTCTCTACTAAAATACAAAA... |
Task1_train_26237 | This sequence change occurs on Chromosome 19, altering ELANE (elastase, neutrophil expressed). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Cyclical neutropenia | AATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGATTCTTTGTGTCTCTCCATTCACCAGTCCTGTGGCCCAGGGCAGGGGCCGCCTCTGTCTTTGGGAAAAGGGGCAAAAGTCCCCACCTTTCCACCCCTGTCCGCGGCTTGCAGTTCTGGTTATTTCCTGGGCGCCGGGCCCCGTGGCTCAGGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGTGTTCGAGACCAGCCTGAGCAACATAGTGAAACCCCGTCTCTACTAAAATACAAAA... | AATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGATTCTTTGTGTCTCTCCATTCACCAGTCCTGTGGCCCAGGGCAGGGGCCGCCTCTGTCTTTGGGAAAAGGGGCAAAAGTCCCCACCTTTCCACCCCTGTCCGCGGCTTGCAGTTCTGGTTATTTCCTGGGCGCCGGGCCCCGTGGCTCAGGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGTGTTCGAGACCAGCCTGAGCAACATAGTGAAACCCCGTCTCTACTAAAATACAAAA... |
Task1_train_26238 | Gene KISS1R (KISS1 receptor), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hypogonadotropic hypogonadism 8 without anosmia | GCTACGTCCGGACCCAACGCGTCCTGGGGGGCACCGGCCAACGCCTCCGGCTGCCCGGGCTGTGGCGCCAACGCCTCGGACGGCCCAGTCCCTTCGCCGCGGGCCGTGGACGCCTGGCTCGTGCCGCTCTTCTTCGCGGCGCTGATGCTGCTGGGCCTGGTGGGGAACTCGCTGGTCATCTACGTCATCTGCCGCCACAAGCCGATGCGGACCGTGACCAACTTCTACATCGGTGAGTGCGGGCGCTGCGCCGCACCTGCTGCCGTCCCGGGGGCTCCGAGGGCCGAGCGGCCTGGGGCGCCCTCTCGCGACGCATCGGG... | GCTACGTCCGGACCCAACGCGTCCTGGGGGGCACCGGCCAACGCCTCCGGCTGCCCGGGCTGTGGCGCCAACGCCTCGGACGGCCCAGTCCCTTCGCCGCGGGCCGTGGACGCCTGGCTCGTGCCGCTCTTCTTCGCGGCGCTGATGCTGCTGGGCCTGGTGGGGAACTCGCTGGTCATCTACGTCATCTGCCGCCACAAGCCGATGCGGACCGTGACCAACTTCTACATCGGTGAGTGCGGGCGCTGCGCCGCACCTGCTGCCGTCCCGGGGGCTCCGAGGGCCGAGCGGCCTGGGGCGCCCTCTCGCGACGCATCGGG... |
Task1_train_26239 | A genetic alteration is present in KISS1R (KISS1 receptor) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | GGTCACTCGGACCAAGGTGGGGGCCAGGGGTCAGGGCCAGGAGCGCTGGGCGGTTCCCGCGGCCAGTGGCGCCCACGCCCAGCGCCCGCGCATCCCCACCGCAGCCAACCTGGCGGCCACGGACGTGACCTTCCTCCTGTGCTGCGTCCCCTTCACGGCCCTGCTGTACCCGCTGCCCGGCTGGGTGCTGGGCGACTTCATGTGCAAGTTCGTCAACTACATCCAGCAGGTGCGCTCCGGAGCAGGAGGGGAGAGGGCGCACTTGGGGACGGGCGGGGGTGCGCTCCGCAGTGGGAGGGGAGGGGACGCACTTGGGGACA... | GGTCACTCGGACCAAGGTGGGGGCCAGGGGTCAGGGCCAGGAGCGCTGGGCGGTTCCCGCGGCCAGTGGCGCCCACGCCCAGCGCCCGCGCATCCCCACCGCAGCCAACCTGGCGGCCACGGACGTGACCTTCCTCCTGTGCTGCGTCCCCTTCACGGCCCTGCTGTACCCGCTGCCCGGCTGGGTGCTGGGCGACTTCATGTGCAAGTTCGTCAACTACATCCAGCAGGTGCGCTCCGGAGCAGGAGGGGAGAGGGCGCACTTGGGGACGGGCGGGGGTGCGCTCCGCAGTGGGAGGGGAGGGGACGCACTTGGGGACA... |
Task1_train_26240 | A change on Chromosome 19 affects gene CNN2 (calponin 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Pulmonary artery atresia | GGCCAGGAGTTCAAGACCAGCCTGGCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGGCACACGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGAGGGGGTTGCAGTGAGCGGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCCAGACTCCATCTCAAAAATAAAAATAAAAAACTGAAACAGCTGTATGATGGGTGTGTGGAGTGTGTGGAGTCCCAGACACCCGAGAGATGTGCCTGTGGGGGCTCTGCGCGGCAGGCAGA... | GGCCAGGAGTTCAAGACCAGCCTGGCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGGCACACGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGAGGGGGTTGCAGTGAGCGGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCCAGACTCCATCTCAAAAATAAAAATAAAAAACTGAAACAGCTGTATGATGGGTGTGTGGAGTGTGTGGAGTCCCAGACACCCGAGAGATGTGCCTGTGGGGGCTCTGCGCGGCAGGCAGA... |
Task1_train_26241 | With a mutation on Chromosome 19 in gene CNN2 (calponin 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Pulmonary artery atresia | TCAAGACCAGCCTGGCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGGCACACGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGAGGGGGTTGCAGTGAGCGGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCCAGACTCCATCTCAAAAATAAAAATAAAAAACTGAAACAGCTGTATGATGGGTGTGTGGAGTGTGTGGAGTCCCAGACACCCGAGAGATGTGCCTGTGGGGGCTCTGCGCGGCAGGCAGAGGTGACAGGC... | TCAAGACCAGCCTGGCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGGCACACGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGAGGGGGTTGCAGTGAGCGGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCCAGACTCCATCTCAAAAATAAAAATAAAAAACTGAAACAGCTGTATGATGGGTGTGTGGAGTGTGTGGAGTCCCAGACACCCGAGAGATGTGCCTGTGGGGGCTCTGCGCGGCAGGCAGAGGTGACAGGC... |
Task1_train_26242 | This sequence change occurs on Chromosome 19, altering STK11 (serine/threonine kinase 11). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Melanoma, cutaneous malignant, susceptibility to, 1 | AGGCGGAGATTGTACCAAGATAGTTTGTTCCAGCTAAACAACCTGGCGCTAGTGCAGGAAAAGGTGGAAGGCACGGGGCTAGCACAGGAGGGTTCAATATTTTCAACCTTATCAAGCCATATTTTGGCAACTCTTGTTTTTCACGAGAAGCCCCCGCTGGGCTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCCGATAGGGCAGAGGCCGCCCTGAGCGTTTCTCTTTCCCCTGGTCCAAGAGTGGCTCAAAAGAAGGATTTTTGACTGGAATTGGCCACTTTGTGTTACTTTTTGACCCTTGACCTCGCCCC... | AGGCGGAGATTGTACCAAGATAGTTTGTTCCAGCTAAACAACCTGGCGCTAGTGCAGGAAAAGGTGGAAGGCACGGGGCTAGCACAGGAGGGTTCAATATTTTCAACCTTATCAAGCCATATTTTGGCAACTCTTGTTTTTCACGAGAAGCCCCCGCTGGGCTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCCGATAGGGCAGAGGCCGCCCTGAGCGTTTCTCTTTCCCCTGGTCCAAGAGTGGCTCAAAAGAAGGATTTTTGACTGGAATTGGCCACTTTGTGTTACTTTTTGACCCTTGACCTCGCCCC... |
Task1_train_26243 | A mutation in STK11 (serine/threonine kinase 11), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Melanoma, cutaneous malignant, susceptibility to, 1 | ATCCTCCCACCTGAGCCTCCCGAGTAGCTAGGACTTGAGGCACGTACCTCCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCGTGTTGCTCAGGCTGGTCTCGAACTCCTGAGCTCAGGTGATCCACCCGCCTCGGCCTCCTATAGTGCTGGGAGAAATGAAGTGTCTGCGACAGGGCGGCAGCTGCAGAGGGGGCTGTGCTCTCTGGCCTGTTGTGCCCCACCCTTGTGACAGGCAGGTGGGCGTGGCCAACTGGGCGGCAGCTGCAGAGGGGGCAGTGACAGGCGGGTGGGTGTGGCAGGACCC... | ATCCTCCCACCTGAGCCTCCCGAGTAGCTAGGACTTGAGGCACGTACCTCCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCGTGTTGCTCAGGCTGGTCTCGAACTCCTGAGCTCAGGTGATCCACCCGCCTCGGCCTCCTATAGTGCTGGGAGAAATGAAGTGTCTGCGACAGGGCGGCAGCTGCAGAGGGGGCTGTGCTCTCTGGCCTGTTGTGCCCCACCCTTGTGACAGGCAGGTGGGCGTGGCCAACTGGGCGGCAGCTGCAGAGGGGGCAGTGACAGGCGGGTGGGTGTGGCAGGACCC... |
Task1_train_26244 | Here’s a variant in STK11 (serine/threonine kinase 11) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hereditary cancer-predisposing syndrome | GACTCCAGGGATCCAGGCCATCATCCTGACGTTGGGTCGGCTGATACACCCCTGTCCTCTCTGTCCCAGGGAAATTCAACTACTGAGGAGGTTACGGCACAAAAATGTCATCCAGCTGGTGGATGTGTTATACAACGAAGAGAAGCAGAAAATATATCCTTTCCGGTGTTGGGACCGCGGGGCCTCCGTGGGAGGGGCTGGGGCCCTGGGTCCGCCTGCCTCGAGGCCTGCTCCTCTTCCCGTCTCCTTGAAGGAGACTGGCACACGAGGGCCGTGGCCTTCCCTGGTTCCCCGGAAGTCAGCCATTGTGGCAATGGCTG... | GACTCCAGGGATCCAGGCCATCATCCTGACGTTGGGTCGGCTGATACACCCCTGTCCTCTCTGTCCCAGGGAAATTCAACTACTGAGGAGGTTACGGCACAAAAATGTCATCCAGCTGGTGGATGTGTTATACAACGAAGAGAAGCAGAAAATATATCCTTTCCGGTGTTGGGACCGCGGGGCCTCCGTGGGAGGGGCTGGGGCCCTGGGTCCGCCTGCCTCGAGGCCTGCTCCTCTTCCCGTCTCCTTGAAGGAGACTGGCACACGAGGGCCGTGGCCTTCCCTGGTTCCCCGGAAGTCAGCCATTGTGGCAATGGCTG... |
Task1_train_26245 | This sequence variant lies in STK11 (serine/threonine kinase 11) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Peutz-Jeghers syndrome | GGCTGATACACCCCTGTCCTCTCTGTCCCAGGGAAATTCAACTACTGAGGAGGTTACGGCACAAAAATGTCATCCAGCTGGTGGATGTGTTATACAACGAAGAGAAGCAGAAAATATATCCTTTCCGGTGTTGGGACCGCGGGGCCTCCGTGGGAGGGGCTGGGGCCCTGGGTCCGCCTGCCTCGAGGCCTGCTCCTCTTCCCGTCTCCTTGAAGGAGACTGGCACACGAGGGCCGTGGCCTTCCCTGGTTCCCCGGAAGTCAGCCATTGTGGCAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCCTG... | GGCTGATACACCCCTGTCCTCTCTGTCCCAGGGAAATTCAACTACTGAGGAGGTTACGGCACAAAAATGTCATCCAGCTGGTGGATGTGTTATACAACGAAGAGAAGCAGAAAATATATCCTTTCCGGTGTTGGGACCGCGGGGCCTCCGTGGGAGGGGCTGGGGCCCTGGGTCCGCCTGCCTCGAGGCCTGCTCCTCTTCCCGTCTCCTTGAAGGAGACTGGCACACGAGGGCCGTGGCCTTCCCTGGTTCCCCGGAAGTCAGCCATTGTGGCAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCCTG... |
Task1_train_26246 | A genetic alteration is present in STK11 (serine/threonine kinase 11) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hereditary cancer-predisposing syndrome | GGCTGATACACCCCTGTCCTCTCTGTCCCAGGGAAATTCAACTACTGAGGAGGTTACGGCACAAAAATGTCATCCAGCTGGTGGATGTGTTATACAACGAAGAGAAGCAGAAAATATATCCTTTCCGGTGTTGGGACCGCGGGGCCTCCGTGGGAGGGGCTGGGGCCCTGGGTCCGCCTGCCTCGAGGCCTGCTCCTCTTCCCGTCTCCTTGAAGGAGACTGGCACACGAGGGCCGTGGCCTTCCCTGGTTCCCCGGAAGTCAGCCATTGTGGCAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCCTG... | GGCTGATACACCCCTGTCCTCTCTGTCCCAGGGAAATTCAACTACTGAGGAGGTTACGGCACAAAAATGTCATCCAGCTGGTGGATGTGTTATACAACGAAGAGAAGCAGAAAATATATCCTTTCCGGTGTTGGGACCGCGGGGCCTCCGTGGGAGGGGCTGGGGCCCTGGGTCCGCCTGCCTCGAGGCCTGCTCCTCTTCCCGTCTCCTTGAAGGAGACTGGCACACGAGGGCCGTGGCCTTCCCTGGTTCCCCGGAAGTCAGCCATTGTGGCAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCCTG... |
Task1_train_26247 | The gene STK11 (serine/threonine kinase 11) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Peutz-Jeghers syndrome | CCCCTGTCCTCTCTGTCCCAGGGAAATTCAACTACTGAGGAGGTTACGGCACAAAAATGTCATCCAGCTGGTGGATGTGTTATACAACGAAGAGAAGCAGAAAATATATCCTTTCCGGTGTTGGGACCGCGGGGCCTCCGTGGGAGGGGCTGGGGCCCTGGGTCCGCCTGCCTCGAGGCCTGCTCCTCTTCCCGTCTCCTTGAAGGAGACTGGCACACGAGGGCCGTGGCCTTCCCTGGTTCCCCGGAAGTCAGCCATTGTGGCAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCCTGTGTCTTGGGC... | CCCCTGTCCTCTCTGTCCCAGGGAAATTCAACTACTGAGGAGGTTACGGCACAAAAATGTCATCCAGCTGGTGGATGTGTTATACAACGAAGAGAAGCAGAAAATATATCCTTTCCGGTGTTGGGACCGCGGGGCCTCCGTGGGAGGGGCTGGGGCCCTGGGTCCGCCTGCCTCGAGGCCTGCTCCTCTTCCCGTCTCCTTGAAGGAGACTGGCACACGAGGGCCGTGGCCTTCCCTGGTTCCCCGGAAGTCAGCCATTGTGGCAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCCTGTGTCTTGGGC... |
Task1_train_26248 | A mutation in STK11 (serine/threonine kinase 11), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hereditary cancer-predisposing syndrome | TACGGCACAAAAATGTCATCCAGCTGGTGGATGTGTTATACAACGAAGAGAAGCAGAAAATATATCCTTTCCGGTGTTGGGACCGCGGGGCCTCCGTGGGAGGGGCTGGGGCCCTGGGTCCGCCTGCCTCGAGGCCTGCTCCTCTTCCCGTCTCCTTGAAGGAGACTGGCACACGAGGGCCGTGGCCTTCCCTGGTTCCCCGGAAGTCAGCCATTGTGGCAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCCTGTGTCTTGGGCCCGTGGGGTGTCAAGTCCCTTTTTTCTCAGAGTCTCCTCCCAGG... | TACGGCACAAAAATGTCATCCAGCTGGTGGATGTGTTATACAACGAAGAGAAGCAGAAAATATATCCTTTCCGGTGTTGGGACCGCGGGGCCTCCGTGGGAGGGGCTGGGGCCCTGGGTCCGCCTGCCTCGAGGCCTGCTCCTCTTCCCGTCTCCTTGAAGGAGACTGGCACACGAGGGCCGTGGCCTTCCCTGGTTCCCCGGAAGTCAGCCATTGTGGCAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCCTGTGTCTTGGGCCCGTGGGGTGTCAAGTCCCTTTTTTCTCAGAGTCTCCTCCCAGG... |
Task1_train_26249 | Here is a genetic alteration in STK11 (serine/threonine kinase 11) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Peutz-Jeghers syndrome | ATTGTGGCAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCCTGTGTCTTGGGCCCGTGGGGTGTCAAGTCCCTTTTTTCTCAGAGTCTCCTCCCAGGCTAACCAGGGGTGTAGCCACGGTCTGCCTGAGACAGGCCACGCGGGCTGACCGTTGTGGGCCATTTTGGTCGTGGCTGGGCGTGTCCTCGTGTCATCTGTGGACACCCCCATGGGTCTTACGGGCACAGCCTCCCTACGGGGACTTTGCTTCCTAAGGCCCTGTGCCCAGAGCAAGAGCCAGAAGTGGTCCTGAGGCTGGGGCTGTGTTCCC... | ATTGTGGCAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCCTGTGTCTTGGGCCCGTGGGGTGTCAAGTCCCTTTTTTCTCAGAGTCTCCTCCCAGGCTAACCAGGGGTGTAGCCACGGTCTGCCTGAGACAGGCCACGCGGGCTGACCGTTGTGGGCCATTTTGGTCGTGGCTGGGCGTGTCCTCGTGTCATCTGTGGACACCCCCATGGGTCTTACGGGCACAGCCTCCCTACGGGGACTTTGCTTCCTAAGGCCCTGTGCCCAGAGCAAGAGCCAGAAGTGGTCCTGAGGCTGGGGCTGTGTTCCC... |
Task1_train_26250 | Here’s a variant in STK11 (serine/threonine kinase 11) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Peutz-Jeghers syndrome | CAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCCTGTGTCTTGGGCCCGTGGGGTGTCAAGTCCCTTTTTTCTCAGAGTCTCCTCCCAGGCTAACCAGGGGTGTAGCCACGGTCTGCCTGAGACAGGCCACGCGGGCTGACCGTTGTGGGCCATTTTGGTCGTGGCTGGGCGTGTCCTCGTGTCATCTGTGGACACCCCCATGGGTCTTACGGGCACAGCCTCCCTACGGGGACTTTGCTTCCTAAGGCCCTGTGCCCAGAGCAAGAGCCAGAAGTGGTCCTGAGGCTGGGGCTGTGTTCCCTGAGCCA... | CAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCCTGTGTCTTGGGCCCGTGGGGTGTCAAGTCCCTTTTTTCTCAGAGTCTCCTCCCAGGCTAACCAGGGGTGTAGCCACGGTCTGCCTGAGACAGGCCACGCGGGCTGACCGTTGTGGGCCATTTTGGTCGTGGCTGGGCGTGTCCTCGTGTCATCTGTGGACACCCCCATGGGTCTTACGGGCACAGCCTCCCTACGGGGACTTTGCTTCCTAAGGCCCTGTGCCCAGAGCAAGAGCCAGAAGTGGTCCTGAGGCTGGGGCTGTGTTCCCTGAGCCA... |
Task1_train_26251 | Consider a variant on Chromosome 19 in gene STK11 (serine/threonine kinase 11). Determine its clinical classification and disease relevance. | Pathogenic; Peutz-Jeghers syndrome | TCCATCTTTGCTGGGCCTGCTGCCTGAGGCCAGTGGCCTGCTTCCAGCCCATCGCTGGCAGCCGCCTGCCCTGACCAGATCTCCTGGATGCAGGTCTGTGGCCTCAGAGTCAGGGCCCCTTGCTGCTGCAGGACCACAGGGGCAGGGAGGGGCCTGCTGTTCCAGCAAGACTTTGGGGTGCAGCCGGCCTGTGGCCCACAGGAAAATGAGACCTGTGGACATCCGGGGCCCTGCCAGACGTGGCTCGGCCGGACGAGGGTGGCCACTGCAGGCGCAGGTGTGGCTCCCTGCTGGACCTAGCCTTTCCTCTGTCCTGTGTG... | TCCATCTTTGCTGGGCCTGCTGCCTGAGGCCAGTGGCCTGCTTCCAGCCCATCGCTGGCAGCCGCCTGCCCTGACCAGATCTCCTGGATGCAGGTCTGTGGCCTCAGAGTCAGGGCCCCTTGCTGCTGCAGGACCACAGGGGCAGGGAGGGGCCTGCTGTTCCAGCAAGACTTTGGGGTGCAGCCGGCCTGTGGCCCACAGGAAAATGAGACCTGTGGACATCCGGGGCCCTGCCAGACGTGGCTCGGCCGGACGAGGGTGGCCACTGCAGGCGCAGGTGTGGCTCCCTGCTGGACCTAGCCTTTCCTCTGTCCTGTGTG... |
Task1_train_26252 | This variant impacts the gene STK11 (serine/threonine kinase 11) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hereditary cancer-predisposing syndrome | CTGCCTGAGGCCAGTGGCCTGCTTCCAGCCCATCGCTGGCAGCCGCCTGCCCTGACCAGATCTCCTGGATGCAGGTCTGTGGCCTCAGAGTCAGGGCCCCTTGCTGCTGCAGGACCACAGGGGCAGGGAGGGGCCTGCTGTTCCAGCAAGACTTTGGGGTGCAGCCGGCCTGTGGCCCACAGGAAAATGAGACCTGTGGACATCCGGGGCCCTGCCAGACGTGGCTCGGCCGGACGAGGGTGGCCACTGCAGGCGCAGGTGTGGCTCCCTGCTGGACCTAGCCTTTCCTCTGTCCTGTGTGCCTGGACTTCTGTGACTTC... | CTGCCTGAGGCCAGTGGCCTGCTTCCAGCCCATCGCTGGCAGCCGCCTGCCCTGACCAGATCTCCTGGATGCAGGTCTGTGGCCTCAGAGTCAGGGCCCCTTGCTGCTGCAGGACCACAGGGGCAGGGAGGGGCCTGCTGTTCCAGCAAGACTTTGGGGTGCAGCCGGCCTGTGGCCCACAGGAAAATGAGACCTGTGGACATCCGGGGCCCTGCCAGACGTGGCTCGGCCGGACGAGGGTGGCCACTGCAGGCGCAGGTGTGGCTCCCTGCTGGACCTAGCCTTTCCTCTGTCCTGTGTGCCTGGACTTCTGTGACTTC... |
Task1_train_26253 | A genetic alteration is present in STK11 (serine/threonine kinase 11) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Peutz-Jeghers syndrome | CTGCCTGAGGCCAGTGGCCTGCTTCCAGCCCATCGCTGGCAGCCGCCTGCCCTGACCAGATCTCCTGGATGCAGGTCTGTGGCCTCAGAGTCAGGGCCCCTTGCTGCTGCAGGACCACAGGGGCAGGGAGGGGCCTGCTGTTCCAGCAAGACTTTGGGGTGCAGCCGGCCTGTGGCCCACAGGAAAATGAGACCTGTGGACATCCGGGGCCCTGCCAGACGTGGCTCGGCCGGACGAGGGTGGCCACTGCAGGCGCAGGTGTGGCTCCCTGCTGGACCTAGCCTTTCCTCTGTCCTGTGTGCCTGGACTTCTGTGACTTC... | CTGCCTGAGGCCAGTGGCCTGCTTCCAGCCCATCGCTGGCAGCCGCCTGCCCTGACCAGATCTCCTGGATGCAGGTCTGTGGCCTCAGAGTCAGGGCCCCTTGCTGCTGCAGGACCACAGGGGCAGGGAGGGGCCTGCTGTTCCAGCAAGACTTTGGGGTGCAGCCGGCCTGTGGCCCACAGGAAAATGAGACCTGTGGACATCCGGGGCCCTGCCAGACGTGGCTCGGCCGGACGAGGGTGGCCACTGCAGGCGCAGGTGTGGCTCCCTGCTGGACCTAGCCTTTCCTCTGTCCTGTGTGCCTGGACTTCTGTGACTTC... |
Task1_train_26254 | Gene STK11 (serine/threonine kinase 11) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Neoplasm | CTGCCTGAGGCCAGTGGCCTGCTTCCAGCCCATCGCTGGCAGCCGCCTGCCCTGACCAGATCTCCTGGATGCAGGTCTGTGGCCTCAGAGTCAGGGCCCCTTGCTGCTGCAGGACCACAGGGGCAGGGAGGGGCCTGCTGTTCCAGCAAGACTTTGGGGTGCAGCCGGCCTGTGGCCCACAGGAAAATGAGACCTGTGGACATCCGGGGCCCTGCCAGACGTGGCTCGGCCGGACGAGGGTGGCCACTGCAGGCGCAGGTGTGGCTCCCTGCTGGACCTAGCCTTTCCTCTGTCCTGTGTGCCTGGACTTCTGTGACTTC... | CTGCCTGAGGCCAGTGGCCTGCTTCCAGCCCATCGCTGGCAGCCGCCTGCCCTGACCAGATCTCCTGGATGCAGGTCTGTGGCCTCAGAGTCAGGGCCCCTTGCTGCTGCAGGACCACAGGGGCAGGGAGGGGCCTGCTGTTCCAGCAAGACTTTGGGGTGCAGCCGGCCTGTGGCCCACAGGAAAATGAGACCTGTGGACATCCGGGGCCCTGCCAGACGTGGCTCGGCCGGACGAGGGTGGCCACTGCAGGCGCAGGTGTGGCTCCCTGCTGGACCTAGCCTTTCCTCTGTCCTGTGTGCCTGGACTTCTGTGACTTC... |
Task1_train_26255 | Located on Chromosome 19, this mutation impacts STK11 (serine/threonine kinase 11). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hereditary cancer-predisposing syndrome | TGCCTGAGGCCAGTGGCCTGCTTCCAGCCCATCGCTGGCAGCCGCCTGCCCTGACCAGATCTCCTGGATGCAGGTCTGTGGCCTCAGAGTCAGGGCCCCTTGCTGCTGCAGGACCACAGGGGCAGGGAGGGGCCTGCTGTTCCAGCAAGACTTTGGGGTGCAGCCGGCCTGTGGCCCACAGGAAAATGAGACCTGTGGACATCCGGGGCCCTGCCAGACGTGGCTCGGCCGGACGAGGGTGGCCACTGCAGGCGCAGGTGTGGCTCCCTGCTGGACCTAGCCTTTCCTCTGTCCTGTGTGCCTGGACTTCTGTGACTTCC... | TGCCTGAGGCCAGTGGCCTGCTTCCAGCCCATCGCTGGCAGCCGCCTGCCCTGACCAGATCTCCTGGATGCAGGTCTGTGGCCTCAGAGTCAGGGCCCCTTGCTGCTGCAGGACCACAGGGGCAGGGAGGGGCCTGCTGTTCCAGCAAGACTTTGGGGTGCAGCCGGCCTGTGGCCCACAGGAAAATGAGACCTGTGGACATCCGGGGCCCTGCCAGACGTGGCTCGGCCGGACGAGGGTGGCCACTGCAGGCGCAGGTGTGGCTCCCTGCTGGACCTAGCCTTTCCTCTGTCCTGTGTGCCTGGACTTCTGTGACTTCC... |
Task1_train_26256 | Given this context: Chromosome 19, gene STK11 (serine/threonine kinase 11) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Peutz-Jeghers syndrome | TGCCTGAGGCCAGTGGCCTGCTTCCAGCCCATCGCTGGCAGCCGCCTGCCCTGACCAGATCTCCTGGATGCAGGTCTGTGGCCTCAGAGTCAGGGCCCCTTGCTGCTGCAGGACCACAGGGGCAGGGAGGGGCCTGCTGTTCCAGCAAGACTTTGGGGTGCAGCCGGCCTGTGGCCCACAGGAAAATGAGACCTGTGGACATCCGGGGCCCTGCCAGACGTGGCTCGGCCGGACGAGGGTGGCCACTGCAGGCGCAGGTGTGGCTCCCTGCTGGACCTAGCCTTTCCTCTGTCCTGTGTGCCTGGACTTCTGTGACTTCC... | TGCCTGAGGCCAGTGGCCTGCTTCCAGCCCATCGCTGGCAGCCGCCTGCCCTGACCAGATCTCCTGGATGCAGGTCTGTGGCCTCAGAGTCAGGGCCCCTTGCTGCTGCAGGACCACAGGGGCAGGGAGGGGCCTGCTGTTCCAGCAAGACTTTGGGGTGCAGCCGGCCTGTGGCCCACAGGAAAATGAGACCTGTGGACATCCGGGGCCCTGCCAGACGTGGCTCGGCCGGACGAGGGTGGCCACTGCAGGCGCAGGTGTGGCTCCCTGCTGGACCTAGCCTTTCCTCTGTCCTGTGTGCCTGGACTTCTGTGACTTCC... |
Task1_train_26257 | A variant affecting Chromosome 19, within the gene STK11 (serine/threonine kinase 11), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Peutz-Jeghers syndrome | GAGGCCAGTGGCCTGCTTCCAGCCCATCGCTGGCAGCCGCCTGCCCTGACCAGATCTCCTGGATGCAGGTCTGTGGCCTCAGAGTCAGGGCCCCTTGCTGCTGCAGGACCACAGGGGCAGGGAGGGGCCTGCTGTTCCAGCAAGACTTTGGGGTGCAGCCGGCCTGTGGCCCACAGGAAAATGAGACCTGTGGACATCCGGGGCCCTGCCAGACGTGGCTCGGCCGGACGAGGGTGGCCACTGCAGGCGCAGGTGTGGCTCCCTGCTGGACCTAGCCTTTCCTCTGTCCTGTGTGCCTGGACTTCTGTGACTTCCCAGCT... | GAGGCCAGTGGCCTGCTTCCAGCCCATCGCTGGCAGCCGCCTGCCCTGACCAGATCTCCTGGATGCAGGTCTGTGGCCTCAGAGTCAGGGCCCCTTGCTGCTGCAGGACCACAGGGGCAGGGAGGGGCCTGCTGTTCCAGCAAGACTTTGGGGTGCAGCCGGCCTGTGGCCCACAGGAAAATGAGACCTGTGGACATCCGGGGCCCTGCCAGACGTGGCTCGGCCGGACGAGGGTGGCCACTGCAGGCGCAGGTGTGGCTCCCTGCTGGACCTAGCCTTTCCTCTGTCCTGTGTGCCTGGACTTCTGTGACTTCCCAGCT... |
Task1_train_26258 | Located on Chromosome 19, this mutation impacts ATP5F1D (ATP synthase F1 subunit delta). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Decreased activity of mitochondrial ATP synthase complex | CGCGTCGCCCGCGCTGTGCCCCTCGCCGCGGTCGCCGTTTCCTAGAACAGCTGCACCTGCAGCCTTCCACCCTGTCCCGTCCTGCACACTTTCTCGGCTTTTACTGTGATTTATTTTTGGCTTTTGCCACCACCTACCACTACGACCTGTTTGTTTTTAAATTTTATTTATTTTTTTGTTTGAGACAGAGTCTTGCTCAGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCCCCCCCCCCCCCCGCCCGGGTTCGAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGC... | CGCGTCGCCCGCGCTGTGCCCCTCGCCGCGGTCGCCGTTTCCTAGAACAGCTGCACCTGCAGCCTTCCACCCTGTCCCGTCCTGCACACTTTCTCGGCTTTTACTGTGATTTATTTTTGGCTTTTGCCACCACCTACCACTACGACCTGTTTGTTTTTAAATTTTATTTATTTTTTTGTTTGAGACAGAGTCTTGCTCAGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCCCCCCCCCCCCCCGCCCGGGTTCGAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGC... |
Task1_train_26259 | Gene ATP5F1D (ATP synthase F1 subunit delta), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 | CGCGTCGCCCGCGCTGTGCCCCTCGCCGCGGTCGCCGTTTCCTAGAACAGCTGCACCTGCAGCCTTCCACCCTGTCCCGTCCTGCACACTTTCTCGGCTTTTACTGTGATTTATTTTTGGCTTTTGCCACCACCTACCACTACGACCTGTTTGTTTTTAAATTTTATTTATTTTTTTGTTTGAGACAGAGTCTTGCTCAGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCCCCCCCCCCCCCCGCCCGGGTTCGAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGC... | CGCGTCGCCCGCGCTGTGCCCCTCGCCGCGGTCGCCGTTTCCTAGAACAGCTGCACCTGCAGCCTTCCACCCTGTCCCGTCCTGCACACTTTCTCGGCTTTTACTGTGATTTATTTTTGGCTTTTGCCACCACCTACCACTACGACCTGTTTGTTTTTAAATTTTATTTATTTTTTTGTTTGAGACAGAGTCTTGCTCAGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCCCCCCCCCCCCCCGCCCGGGTTCGAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGC... |
Task1_train_26260 | The gene ATP5F1D (ATP synthase F1 subunit delta), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 | CGCTTCCGGGCCCCCGGACCCGCGCGCCCCGGAAGCCGAGGCTACTCAGCCCTGGACCCTCGGCCCTGCCTCTGCTGCCCGAGCCCTGCGCTGCCCTCGTCCCGGGCACCTCCCCGAGATAAGCGTCTCCTGGGTGCCCTCCCCGATCTCCCTGGCCAAAGCCTGGGTGTCGCCGGATCGTTGCATTCCCATTTCGCGGATCAGTAGAATGAGGCGCAACTGTTGAGGACCAAAGCTGCAACTTCGGATCCCTGCGCTGGGTTGTCTCAGTGCCTCACATCAGCGCCAGGTCCTGCCCTGACCCATTACTTAGCAGGACA... | CGCTTCCGGGCCCCCGGACCCGCGCGCCCCGGAAGCCGAGGCTACTCAGCCCTGGACCCTCGGCCCTGCCTCTGCTGCCCGAGCCCTGCGCTGCCCTCGTCCCGGGCACCTCCCCGAGATAAGCGTCTCCTGGGTGCCCTCCCCGATCTCCCTGGCCAAAGCCTGGGTGTCGCCGGATCGTTGCATTCCCATTTCGCGGATCAGTAGAATGAGGCGCAACTGTTGAGGACCAAAGCTGCAACTTCGGATCCCTGCGCTGGGTTGTCTCAGTGCCTCACATCAGCGCCAGGTCCTGCCCTGACCCATTACTTAGCAGGACA... |
Task1_train_26261 | This variant affects the gene ATP5F1D (ATP synthase F1 subunit delta) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Mitochondrial disease | CGCTTCCGGGCCCCCGGACCCGCGCGCCCCGGAAGCCGAGGCTACTCAGCCCTGGACCCTCGGCCCTGCCTCTGCTGCCCGAGCCCTGCGCTGCCCTCGTCCCGGGCACCTCCCCGAGATAAGCGTCTCCTGGGTGCCCTCCCCGATCTCCCTGGCCAAAGCCTGGGTGTCGCCGGATCGTTGCATTCCCATTTCGCGGATCAGTAGAATGAGGCGCAACTGTTGAGGACCAAAGCTGCAACTTCGGATCCCTGCGCTGGGTTGTCTCAGTGCCTCACATCAGCGCCAGGTCCTGCCCTGACCCATTACTTAGCAGGACA... | CGCTTCCGGGCCCCCGGACCCGCGCGCCCCGGAAGCCGAGGCTACTCAGCCCTGGACCCTCGGCCCTGCCTCTGCTGCCCGAGCCCTGCGCTGCCCTCGTCCCGGGCACCTCCCCGAGATAAGCGTCTCCTGGGTGCCCTCCCCGATCTCCCTGGCCAAAGCCTGGGTGTCGCCGGATCGTTGCATTCCCATTTCGCGGATCAGTAGAATGAGGCGCAACTGTTGAGGACCAAAGCTGCAACTTCGGATCCCTGCGCTGGGTTGTCTCAGTGCCTCACATCAGCGCCAGGTCCTGCCCTGACCCATTACTTAGCAGGACA... |
Task1_train_26262 | Gene NDUFS7 (NADH:ubiquinone oxidoreductase core subunit S7), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | ATCACACTCATGAACTGGGCATGGGGTACTCACAACTCTAAATTATTCTAAAAATATTGATATAAATTTAAGACCAAAACCATGGCCAGGCGTGGTGCCTCACTCCTGAATCCCAGCACTCTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACAAACCCTGTCTCTATTCAAAATACAAAAACTAGCCGGGCATCGTAGTGTGTGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGATCCAGGGAGGTGGAGGCTGCAGTGAGCTGAGATCTTGCCAC... | ATCACACTCATGAACTGGGCATGGGGTACTCACAACTCTAAATTATTCTAAAAATATTGATATAAATTTAAGACCAAAACCATGGCCAGGCGTGGTGCCTCACTCCTGAATCCCAGCACTCTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACAAACCCTGTCTCTATTCAAAATACAAAAACTAGCCGGGCATCGTAGTGTGTGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGATCCAGGGAGGTGGAGGCTGCAGTGAGCTGAGATCTTGCCAC... |
Task1_train_26263 | Given this context: Chromosome 19, gene NDUFS7 (NADH:ubiquinone oxidoreductase core subunit S7) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 3 | CAGATGTGTACACGGACCACACGCACACTCACGCACACAATGCACATATGCACACTCGCACACATGCACACTTGCACACACATGCACACACAAGCACATGTGCACACACGCTTGCACACATACACACATGCACACTTGCACTCATGCACACTCATGCGCACATATACACATGCACACGCACACTCGCACACACGTGCACATATATGCACAGTCATGCACACACATGCACACTCACACACATGCACACACGTCCTTGTGTGGACACATGCATGTGTGCCTGTTGGCATGCATGCACACAGGCACACTCACTGATGCACACA... | CAGATGTGTACACGGACCACACGCACACTCACGCACACAATGCACATATGCACACTCGCACACATGCACACTTGCACACACATGCACACACAAGCACATGTGCACACACGCTTGCACACATACACACATGCACACTTGCACTCATGCACACTCATGCGCACATATACACATGCACACGCACACTCGCACACACGTGCACATATATGCACAGTCATGCACACACATGCACACTCACACACATGCACACACGTCCTTGTGTGGACACATGCATGTGTGCCTGTTGGCATGCATGCACACAGGCACACTCACTGATGCACACA... |
Task1_train_26264 | Given this variant in gene GAMT (guanidinoacetate N-methyltransferase) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Deficiency of guanidinoacetate methyltransferase | CATCAGCTGGAGATGTCTGCTATGGGCAAGACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTT... | CATCAGCTGGAGATGTCTGCTATGGGCAAGACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTT... |
Task1_train_26265 | This gene mutation involves GAMT (guanidinoacetate N-methyltransferase) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; Deficiency of guanidinoacetate methyltransferase | GGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACAGCTGGGATCAGCCCAGGGCTGGTGCGACACCCTGGACTCCCGGCCAGGAAGGCACGGAGGAGGGCATGGGTGTGGCCGGGCCGGGGTGGGGGCTCAGCCTTTGGTCACCAGGGGCGTGATCATCTGTGGGAAGGCGTAGTAGCGGCAGTCGGCCGGTGGGACCAGCGCCATCACCTCCGTACGGATGTTC... | GGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACAGCTGGGATCAGCCCAGGGCTGGTGCGACACCCTGGACTCCCGGCCAGGAAGGCACGGAGGAGGGCATGGGTGTGGCCGGGCCGGGGTGGGGGCTCAGCCTTTGGTCACCAGGGGCGTGATCATCTGTGGGAAGGCGTAGTAGCGGCAGTCGGCCGGTGGGACCAGCGCCATCACCTCCGTACGGATGTTC... |
Task1_train_26266 | A variant affecting Chromosome 19, within the gene GAMT (guanidinoacetate N-methyltransferase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Deficiency of guanidinoacetate methyltransferase | CTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCG... | CTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCG... |
Task1_train_26267 | A mutation in GAMT, LOC130062945 (guanidinoacetate N-methyltransferase| ATAC-STARR-seq lymphoblastoid silent region 9707), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Deficiency of guanidinoacetate methyltransferase | GGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGG... | GGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGG... |
Task1_train_26268 | This mutation occurs in GAMT, LOC130062945 (guanidinoacetate N-methyltransferase| ATAC-STARR-seq lymphoblastoid silent region 9707) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Deficiency of guanidinoacetate methyltransferase | TGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGA... | TGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGA... |
Task1_train_26269 | This gene mutation involves GAMT, LOC130062945 (guanidinoacetate N-methyltransferase| ATAC-STARR-seq lymphoblastoid silent region 9707) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; Cerebral creatine deficiency syndrome | GTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCT... | GTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCT... |
Task1_train_26270 | This genomic variant is located on Chromosome 19, within the GAMT, LOC130062945 (guanidinoacetate N-methyltransferase| ATAC-STARR-seq lymphoblastoid silent region 9707) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cerebral creatine deficiency syndrome | TCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTC... | TCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTC... |
Task1_train_26271 | A mutation found in APC2 (APC regulator of WNT signaling pathway 2) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Intellectual developmental disorder, autosomal recessive 74 | GCCAACCCACCGGCGCACATCGGCCATCCCTCGCGCTTTTACGCGGGAGCGTCCGCAGGGCCGGAAGGAGGCCCCTGCCCCGTCCAAGGCTGCACCAGCTGCCCCGCCGCCCGCCCGGACCCAGCCCAGCCTCATTGCTGACGAGACCCCGCCCTGCTACTCCCTGAGCTCCTCCGCCAGCTCCCTCAGCGAGCCCGAGCCCTCGGAGCCGCCGGCCGTCCATCCACGAGGCCGGGAGCCCGCGGTCACCAAGGACCCGGGCCCAGGAGGCGGACGCGACAGCTCGCCCAGCCCGCGGGCCGCGGAGGAGCTTCTGCAGC... | GCCAACCCACCGGCGCACATCGGCCATCCCTCGCGCTTTTACGCGGGAGCGTCCGCAGGGCCGGAAGGAGGCCCCTGCCCCGTCCAAGGCTGCACCAGCTGCCCCGCCGCCCGCCCGGACCCAGCCCAGCCTCATTGCTGACGAGACCCCGCCCTGCTACTCCCTGAGCTCCTCCGCCAGCTCCCTCAGCGAGCCCGAGCCCTCGGAGCCGCCGGCCGTCCATCCACGAGGCCGGGAGCCCGCGGTCACCAAGGACCCGGGCCCAGGAGGCGGACGCGACAGCTCGCCCAGCCCGCGGGCCGCGGAGGAGCTTCTGCAGC... |
Task1_train_26272 | This is a variant in REEP6 (receptor accessory protein 6), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; Retinitis pigmentosa 77 | GGGGTTTGCTGCCTCCAAGACAGGAGGTTCTCAAAGGGGGTAGCCCTGCCCCCCACCCCGCCCCAGGGGACACTGGGTGATGTCTGGAGATACCTGTAGTCGTCATGACTTGGGGGCTGATGGCATGGAGTGGGCAGAGGCCAGGGACACTGCTCAGCACCCTGCAGTGTCCAGGACAGCCACTTCCCCCTCTCCACCGAAAACAACCAAGAATGACCCGGCCCTGAACATCAGCAGTGCCAAGGCAGAGAAACCCTGCGCTAAGATAACAGATGAAACAGTTGCCTTTCTCAGCTCTAGAATCAAGTCTTCATGACAGC... | GGGGTTTGCTGCCTCCAAGACAGGAGGTTCTCAAAGGGGGTAGCCCTGCCCCCCACCCCGCCCCAGGGGACACTGGGTGATGTCTGGAGATACCTGTAGTCGTCATGACTTGGGGGCTGATGGCATGGAGTGGGCAGAGGCCAGGGACACTGCTCAGCACCCTGCAGTGTCCAGGACAGCCACTTCCCCCTCTCCACCGAAAACAACCAAGAATGACCCGGCCCTGAACATCAGCAGTGCCAAGGCAGAGAAACCCTGCGCTAAGATAACAGATGAAACAGTTGCCTTTCTCAGCTCTAGAATCAAGTCTTCATGACAGC... |
Task1_train_26273 | Consider this mutation in TCF3 (transcription factor 3) on Chromosome 19. Is this a benign change or a disease-causing variant? | Pathogenic; Inborn genetic diseases | GCAGCAGGTGTGGCCCCAGGCCCAGGGATGCTCCCCAGCATTGGGGGAGGCTGGCCAGGCCCCTGGCATCCTGTCTACGTCACGATGGCCCTCTGGTGTAATGGGGACATGGTGGGGTGGGGTGGGGGGTGTCCTGTGCTGGCTCCTGAGCAGCATCCTCTCAGCCAGAGTTCAGAGCATGAGCCTGGGTCCCTGGGGCAAAGGAGTGAAGGACAGGGTGTCCAGGAGGTCCCCAGCACCGGGCTCCAGGGTGTGGTCCCCATGCCAGGGGTCACTGGTCCCAACAAAATGCCCCATTTCAGAGAGCTGTGCAGGTTCCA... | GCAGCAGGTGTGGCCCCAGGCCCAGGGATGCTCCCCAGCATTGGGGGAGGCTGGCCAGGCCCCTGGCATCCTGTCTACGTCACGATGGCCCTCTGGTGTAATGGGGACATGGTGGGGTGGGGTGGGGGGTGTCCTGTGCTGGCTCCTGAGCAGCATCCTCTCAGCCAGAGTTCAGAGCATGAGCCTGGGTCCCTGGGGCAAAGGAGTGAAGGACAGGGTGTCCAGGAGGTCCCCAGCACCGGGCTCCAGGGTGTGGTCCCCATGCCAGGGGTCACTGGTCCCAACAAAATGCCCCATTTCAGAGAGCTGTGCAGGTTCCA... |
Task1_train_26274 | A variant affecting Chromosome 19, within the gene TCF3 (transcription factor 3), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Agammaglobulinemia 8, autosomal dominant | GCAGCAGGTGTGGCCCCAGGCCCAGGGATGCTCCCCAGCATTGGGGGAGGCTGGCCAGGCCCCTGGCATCCTGTCTACGTCACGATGGCCCTCTGGTGTAATGGGGACATGGTGGGGTGGGGTGGGGGGTGTCCTGTGCTGGCTCCTGAGCAGCATCCTCTCAGCCAGAGTTCAGAGCATGAGCCTGGGTCCCTGGGGCAAAGGAGTGAAGGACAGGGTGTCCAGGAGGTCCCCAGCACCGGGCTCCAGGGTGTGGTCCCCATGCCAGGGGTCACTGGTCCCAACAAAATGCCCCATTTCAGAGAGCTGTGCAGGTTCCA... | GCAGCAGGTGTGGCCCCAGGCCCAGGGATGCTCCCCAGCATTGGGGGAGGCTGGCCAGGCCCCTGGCATCCTGTCTACGTCACGATGGCCCTCTGGTGTAATGGGGACATGGTGGGGTGGGGTGGGGGGTGTCCTGTGCTGGCTCCTGAGCAGCATCCTCTCAGCCAGAGTTCAGAGCATGAGCCTGGGTCCCTGGGGCAAAGGAGTGAAGGACAGGGTGTCCAGGAGGTCCCCAGCACCGGGCTCCAGGGTGTGGTCCCCATGCCAGGGGTCACTGGTCCCAACAAAATGCCCCATTTCAGAGAGCTGTGCAGGTTCCA... |
Task1_train_26275 | A genomic change on Chromosome 19 affects ADAT3, SCAMP4 (adenosine deaminase tRNA specific 3| secretory carrier membrane protein 4). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Neurodevelopmental disorder with brain abnormalities | CTGTGTGTGTTGTAGGGTGGTGAGACAAGTTTTCTCTTAGGGGTGATGGAATGTTCTGGAATTTTATAGTGGTGATGGTTGCACAACTCCAAGTGTCCTAAGAGCCACTGAATAGGACACTTGATAGTTTTTGGTTTTTGAGGTGTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCTTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGCGTGGCACCATGCCCAGCTAATTTTT... | CTGTGTGTGTTGTAGGGTGGTGAGACAAGTTTTCTCTTAGGGGTGATGGAATGTTCTGGAATTTTATAGTGGTGATGGTTGCACAACTCCAAGTGTCCTAAGAGCCACTGAATAGGACACTTGATAGTTTTTGGTTTTTGAGGTGTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCTTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGCGTGGCACCATGCCCAGCTAATTTTT... |
Task1_train_26276 | Here is a variant affecting ADAT3, SCAMP4 (adenosine deaminase tRNA specific 3| secretory carrier membrane protein 4) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Intellectual disability-strabismus syndrome | CTGTGTGTGTTGTAGGGTGGTGAGACAAGTTTTCTCTTAGGGGTGATGGAATGTTCTGGAATTTTATAGTGGTGATGGTTGCACAACTCCAAGTGTCCTAAGAGCCACTGAATAGGACACTTGATAGTTTTTGGTTTTTGAGGTGTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCTTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGCGTGGCACCATGCCCAGCTAATTTTT... | CTGTGTGTGTTGTAGGGTGGTGAGACAAGTTTTCTCTTAGGGGTGATGGAATGTTCTGGAATTTTATAGTGGTGATGGTTGCACAACTCCAAGTGTCCTAAGAGCCACTGAATAGGACACTTGATAGTTTTTGGTTTTTGAGGTGTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCTTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGCGTGGCACCATGCCCAGCTAATTTTT... |
Task1_train_26277 | The following genetic variant occurs in AMH, LOC130063038, MIR4321 (anti-Mullerian hormone| ATAC-STARR-seq lymphoblastoid silent region 9776| microRNA 4321) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Persistent Mullerian duct syndrome | GCTGCTCTTTTGTACTGCCCCCCGCTCATTAAACAGCCTCCCCCAGCCCTGAGTGCACTGATGTCCGCAGCGCCGCCCTACTGTGTCAGTGTGTGTGGGAGTGCCAGGCACAGCACCATCCCCCAGTTTGGGCCGACTGGGGAGGGCCTGGGGCCCGCCAGGAGACACCTGTGGGAGGCCTGAGAGATGGCTGTACCTTGGAGATGGCCTGGTGGAGGACAGACCCCACCAGCCAGCTAGGAGGGGATCTGGGGTCCTGTTCTGGGGAGGGAAGAGCAGACTCCACGATATCCTTGGGGTCTCCAGATAGCCCACCAGGG... | GCTGCTCTTTTGTACTGCCCCCCGCTCATTAAACAGCCTCCCCCAGCCCTGAGTGCACTGATGTCCGCAGCGCCGCCCTACTGTGTCAGTGTGTGTGGGAGTGCCAGGCACAGCACCATCCCCCAGTTTGGGCCGACTGGGGAGGGCCTGGGGCCCGCCAGGAGACACCTGTGGGAGGCCTGAGAGATGGCTGTACCTTGGAGATGGCCTGGTGGAGGACAGACCCCACCAGCCAGCTAGGAGGGGATCTGGGGTCCTGTTCTGGGGAGGGAAGAGCAGACTCCACGATATCCTTGGGGTCTCCAGATAGCCCACCAGGG... |
Task1_train_26278 | The gene AMH (anti-Mullerian hormone) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; AMH-related disorder | GCCCAGCTCTATCACTGGGGAGGGAGATAGGCTGCCAGGGACAGAAAGGGCTCTTTGAGAAGGCCACTCTGCCTGGAGTGGGGGCGCCGGGCACTGTCCCCCAAGGTCGCGGCAGAGGAGATAGGGGTCTGTCCTGCACAAACACCCCACCTTCCACTCGGCTCACTTAAGGCAGGCAGCCCAGCCCCTGGCAGCACCCACGATGCGGGACCTGCCTCTCACCAGCCTGGCCCTAGTGCTGTCTGCCCTGGGGGCTCTGCTGGGGACTGAGGCCCTCAGAGCAGAGGAGCCAGCTGTGGGCACCAGTGGCCTCATCTTCC... | GCCCAGCTCTATCACTGGGGAGGGAGATAGGCTGCCAGGGACAGAAAGGGCTCTTTGAGAAGGCCACTCTGCCTGGAGTGGGGGCGCCGGGCACTGTCCCCCAAGGTCGCGGCAGAGGAGATAGGGGTCTGTCCTGCACAAACACCCCACCTTCCACTCGGCTCACTTAAGGCAGGCAGCCCAGCCCCTGGCAGCACCCACGATGCGGGACCTGCCTCTCACCAGCCTGGCCCTAGTGCTGTCTGCCCTGGGGGCTCTGCTGGGGACTGAGGCCCTCAGAGCAGAGGAGCCAGCTGTGGGCACCAGTGGCCTCATCTTCC... |
Task1_train_26279 | The gene LSM7 (LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; In utero death | CCCCGGTGCGAGGCTGGAGGCTGGGGCTTGGGATGAGGTCTCGGCCGGTGGTGGCAGGGCTGGGCTAGGTGGCCGGGGCCGGGGAGGGATGAACAGCGGATGCAGGGGTTGGCCACGAGGTCCGATAACTAATTCCCCAGCCACAGGGGCTAGTGCCGCTGGGCCCCAGCAAAGCCAGTGTCTATGGGGCCCAGATACCCCTGCCGAGAAGCCAGCTGGTTCCACTTATTCGGAGGCAGCCAGGGAGCGTGAGCCCATCCAGACCCGAGGCTGAGCTCCGTCCTGTTCTGCTGCTATAGCTTCCTGGCAACCTGGACCAC... | CCCCGGTGCGAGGCTGGAGGCTGGGGCTTGGGATGAGGTCTCGGCCGGTGGTGGCAGGGCTGGGCTAGGTGGCCGGGGCCGGGGAGGGATGAACAGCGGATGCAGGGGTTGGCCACGAGGTCCGATAACTAATTCCCCAGCCACAGGGGCTAGTGCCGCTGGGCCCCAGCAAAGCCAGTGTCTATGGGGCCCAGATACCCCTGCCGAGAAGCCAGCTGGTTCCACTTATTCGGAGGCAGCCAGGGAGCGTGAGCCCATCCAGACCCGAGGCTGAGCTCCGTCCTGTTCTGCTGCTATAGCTTCCTGGCAACCTGGACCAC... |
Task1_train_26280 | With a mutation on Chromosome 19 in gene LSM7 (LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Leukodystrophy | GGCCCAGGCACCAGGGCCGGGAACCAGGTTATCAGATGGCCGGCCAGAATACAGGCACCCTGGGCCTCCTGGTCTCTGCAAGGTCCCTGGAGCCCTAGGGGGCCAATATTCACCCTATAACAAAGAGGCTGGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACTTGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCAGGCACTTGGAGTCCCAGCTACTCGGGAGGCTGAG... | GGCCCAGGCACCAGGGCCGGGAACCAGGTTATCAGATGGCCGGCCAGAATACAGGCACCCTGGGCCTCCTGGTCTCTGCAAGGTCCCTGGAGCCCTAGGGGGCCAATATTCACCCTATAACAAAGAGGCTGGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACTTGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCAGGCACTTGGAGTCCCAGCTACTCGGGAGGCTGAG... |
Task1_train_26281 | This variant impacts the gene LMNB2 (lamin B2) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; LMNB2-related disorder | CAGCACATGGAGGTTCTATGACTGCGGCAGCCGCTCTGAGACGGTGCCTGGTGCCACCATCATCCCCACCCACCCCCGCCAAGTCCTGTGCCTCCAGTCCCCTGACCCCACCTCACACCCCATCCGTGGCCACCCTCGCCCTCCTGCCCCACCACCTACCGTGACCATCTGGCCGGCGCGCAGGATGTACTTGGGCGTGAACTTGTAGGCGATCTCCTCCCCCTCCAAGACCTGCCTCTTGATTCTCCAGTTCCCCAGAGACTGATCCTGGAAGACACGGCACACACCTGACCCTCAGCCACCAGGACTGTGACACCGCC... | CAGCACATGGAGGTTCTATGACTGCGGCAGCCGCTCTGAGACGGTGCCTGGTGCCACCATCATCCCCACCCACCCCCGCCAAGTCCTGTGCCTCCAGTCCCCTGACCCCACCTCACACCCCATCCGTGGCCACCCTCGCCCTCCTGCCCCACCACCTACCGTGACCATCTGGCCGGCGCGCAGGATGTACTTGGGCGTGAACTTGTAGGCGATCTCCTCCCCCTCCAAGACCTGCCTCTTGATTCTCCAGTTCCCCAGAGACTGATCCTGGAAGACACGGCACACACCTGACCCTCAGCCACCAGGACTGTGACACCGCC... |
Task1_train_26282 | Gene LMNB2 (lamin B2), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; See cases | CAGCACATGGAGGTTCTATGACTGCGGCAGCCGCTCTGAGACGGTGCCTGGTGCCACCATCATCCCCACCCACCCCCGCCAAGTCCTGTGCCTCCAGTCCCCTGACCCCACCTCACACCCCATCCGTGGCCACCCTCGCCCTCCTGCCCCACCACCTACCGTGACCATCTGGCCGGCGCGCAGGATGTACTTGGGCGTGAACTTGTAGGCGATCTCCTCCCCCTCCAAGACCTGCCTCTTGATTCTCCAGTTCCCCAGAGACTGATCCTGGAAGACACGGCACACACCTGACCCTCAGCCACCAGGACTGTGACACCGCC... | CAGCACATGGAGGTTCTATGACTGCGGCAGCCGCTCTGAGACGGTGCCTGGTGCCACCATCATCCCCACCCACCCCCGCCAAGTCCTGTGCCTCCAGTCCCCTGACCCCACCTCACACCCCATCCGTGGCCACCCTCGCCCTCCTGCCCCACCACCTACCGTGACCATCTGGCCGGCGCGCAGGATGTACTTGGGCGTGAACTTGTAGGCGATCTCCTCCCCCTCCAAGACCTGCCTCTTGATTCTCCAGTTCCCCAGAGACTGATCCTGGAAGACACGGCACACACCTGACCCTCAGCCACCAGGACTGTGACACCGCC... |
Task1_train_26283 | This variant affects gene LMNB2 (lamin B2) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; Progressive myoclonic epilepsy type 9 | ACAGTAGAAACGCTTCTGAAGGAAGCTGGCCACCTTTGCAGTCAGCAAGGCGGGTAGCCCAGGCAAGCAGAGCCCTGCGGGCCGCGCACCCACCTCCACGGCCGCCCTCCCGCCTCCACGGCCGCGCACCCGCCTGCACAGCCGCCCTCCCGCCTTCACGGCTGCGCACCCACCTCCACGGCCGCTCACCCACCTGCACTGCCGCCCTCCCACCCCCACAGCCGCGCACCCACCTCCACGGCCGCCCTCTCGCCTCCACGGCCACCCTCCCGCCACCACGGCCGCGCACCCACCTCCACGGCCGCCCTCCCGCCACCACA... | ACAGTAGAAACGCTTCTGAAGGAAGCTGGCCACCTTTGCAGTCAGCAAGGCGGGTAGCCCAGGCAAGCAGAGCCCTGCGGGCCGCGCACCCACCTCCACGGCCGCCCTCCCGCCTCCACGGCCGCGCACCCGCCTGCACAGCCGCCCTCCCGCCTTCACGGCTGCGCACCCACCTCCACGGCCGCTCACCCACCTGCACTGCCGCCCTCCCACCCCCACAGCCGCGCACCCACCTCCACGGCCGCCCTCTCGCCTCCACGGCCACCCTCCCGCCACCACGGCCGCGCACCCACCTCCACGGCCGCCCTCCCGCCACCACA... |
Task1_train_26284 | Assess the clinical impact of this variant on gene LMNB2 (lamin B2), found on Chromosome 19. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Microcephaly 27, primary, autosomal dominant | CAGGACCCCAACCCATGGCAGGAATCAAGTGGGTGCTCCTGCCTGCCCCCCGTTCTGGAGTCCTGTCCTTGGATTGGGCATGGCCAGTGGGAGGGACAAAGAGCCTCCCCAGGGTTAGGTTGGGGGGCAGGACAGATTGCACCCAGACCCCAAGACACCCCGACCTCATGTCCCCTTGGTGGGCAGACTTTCCCGCCTCTTCTCCTTCAGTCTGCACTGAAGCCTCGGGGCCCATTCAGAACCTCAACACTTTCCACCGGACCCAAGATCCCAACTCTCACCCTTCCTTCATATTCTCTTGGGGGCAGAACCTGCCAGAC... | CAGGACCCCAACCCATGGCAGGAATCAAGTGGGTGCTCCTGCCTGCCCCCCGTTCTGGAGTCCTGTCCTTGGATTGGGCATGGCCAGTGGGAGGGACAAAGAGCCTCCCCAGGGTTAGGTTGGGGGGCAGGACAGATTGCACCCAGACCCCAAGACACCCCGACCTCATGTCCCCTTGGTGGGCAGACTTTCCCGCCTCTTCTCCTTCAGTCTGCACTGAAGCCTCGGGGCCCATTCAGAACCTCAACACTTTCCACCGGACCCAAGATCCCAACTCTCACCCTTCCTTCATATTCTCTTGGGGGCAGAACCTGCCAGAC... |
Task1_train_26285 | Located on Chromosome 19, this mutation impacts TLE6 (TLE family member 6, subcortical maternal complex member). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Preimplantation embryonic lethality 1 | CCCACAGCCCAGGGCTTCCAGGACCCTATACCCTGACTCTCTCTCTGCAACTCTGCCTGGACCCGCAGACAGGACCCCAGGCAGCTGACAAGCCCTGTGCAAGCTGCCCAGGAATCCGAGGTCTTCTGGTCCTAACAGGCAGGTCAGCAGGCCTGATGAGACTTTTCCATTTTCCAGGGGCAGGAAAGCAAGGCACCAGGATCCTGTGACCCAGGAACAGACCCATGTCCTGAAGATGCCTCCAGTAATCCCAGCGGGCAGGGGCCGACCGACTCCAGGCGGGATGGGGTGGGGGCATCCTGTGCTGAGGAGCCAATGCA... | CCCACAGCCCAGGGCTTCCAGGACCCTATACCCTGACTCTCTCTCTGCAACTCTGCCTGGACCCGCAGACAGGACCCCAGGCAGCTGACAAGCCCTGTGCAAGCTGCCCAGGAATCCGAGGTCTTCTGGTCCTAACAGGCAGGTCAGCAGGCCTGATGAGACTTTTCCATTTTCCAGGGGCAGGAAAGCAAGGCACCAGGATCCTGTGACCCAGGAACAGACCCATGTCCTGAAGATGCCTCCAGTAATCCCAGCGGGCAGGGGCCGACCGACTCCAGGCGGGATGGGGTGGGGGCATCCTGTGCTGAGGAGCCAATGCA... |
Task1_train_26286 | This alteration in TLE6 (TLE family member 6, subcortical maternal complex member) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Preimplantation embryonic lethality 1 | ACTATTCCCCTTCCCTGCTTGAAGGGATTCCTGTAGACCTGCCTCAGAGCTCGGGTGGACTCAGGGTGGAAGAGGCAAGGGGAGGCCTAGGTGAGGCCAAGGGGAGGCCCAGGCGGACGGAGAAGGGAGGCTGAGGGCTGGGAGGGGCCGGCACTAGATCCTGTGTCTGTTTTCTGCCAACTTTGACACTCTGTGCAGGCAGAGATTTTTGGGTGGTGGCACTGTCCCTTTCATGCCCAAATGTAGTGACTGGTGTTTCCGGGGGCCCAAACCTCAGAGTCTTGACCTGATTGCCTCCCGATGTCCCTTCTGGCCAGGGA... | ACTATTCCCCTTCCCTGCTTGAAGGGATTCCTGTAGACCTGCCTCAGAGCTCGGGTGGACTCAGGGTGGAAGAGGCAAGGGGAGGCCTAGGTGAGGCCAAGGGGAGGCCCAGGCGGACGGAGAAGGGAGGCTGAGGGCTGGGAGGGGCCGGCACTAGATCCTGTGTCTGTTTTCTGCCAACTTTGACACTCTGTGCAGGCAGAGATTTTTGGGTGGTGGCACTGTCCCTTTCATGCCCAAATGTAGTGACTGGTGTTTCCGGGGGCCCAAACCTCAGAGTCTTGACCTGATTGCCTCCCGATGTCCCTTCTGGCCAGGGA... |
Task1_train_26287 | Here is a genetic alteration in GNA11 (G protein subunit alpha 11) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Autosomal dominant hypocalcemia 2 | TTGCGAGACCCCCCACAGGGAGCTCAGGTGCTGTGGGCAGTTCCTGGGCTTTGTCGAGGGCCTCCCGAAGGCAGCACTGTGGCCACCGTGGGACACATGCAGCCTGTCTCATCTCTAGGAGCTGCCAGGTGAGGGGTCCTGCGACAGGCACCTGTGCAAAGATATCTACCATGGGCAGCAAGGAAGGTTCCAGAAAGTACCGGAGGGAGAGTTGTGTTGGGGCTTGGGGGCTTTCTAGAGCAGAGGCTGTGAGAGGAAGTGAGCTGGGTCCCAGCACCAGGCAGCCTTTAGGCAGCTGTGATTGGAACAGCACTGTGGGC... | TTGCGAGACCCCCCACAGGGAGCTCAGGTGCTGTGGGCAGTTCCTGGGCTTTGTCGAGGGCCTCCCGAAGGCAGCACTGTGGCCACCGTGGGACACATGCAGCCTGTCTCATCTCTAGGAGCTGCCAGGTGAGGGGTCCTGCGACAGGCACCTGTGCAAAGATATCTACCATGGGCAGCAAGGAAGGTTCCAGAAAGTACCGGAGGGAGAGTTGTGTTGGGGCTTGGGGGCTTTCTAGAGCAGAGGCTGTGAGAGGAAGTGAGCTGGGTCCCAGCACCAGGCAGCCTTTAGGCAGCTGTGATTGGAACAGCACTGTGGGC... |
Task1_train_26288 | The gene GNA11 (G protein subunit alpha 11) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Familial hypocalciuric hypercalcemia 2 | TTGCGAGACCCCCCACAGGGAGCTCAGGTGCTGTGGGCAGTTCCTGGGCTTTGTCGAGGGCCTCCCGAAGGCAGCACTGTGGCCACCGTGGGACACATGCAGCCTGTCTCATCTCTAGGAGCTGCCAGGTGAGGGGTCCTGCGACAGGCACCTGTGCAAAGATATCTACCATGGGCAGCAAGGAAGGTTCCAGAAAGTACCGGAGGGAGAGTTGTGTTGGGGCTTGGGGGCTTTCTAGAGCAGAGGCTGTGAGAGGAAGTGAGCTGGGTCCCAGCACCAGGCAGCCTTTAGGCAGCTGTGATTGGAACAGCACTGTGGGC... | TTGCGAGACCCCCCACAGGGAGCTCAGGTGCTGTGGGCAGTTCCTGGGCTTTGTCGAGGGCCTCCCGAAGGCAGCACTGTGGCCACCGTGGGACACATGCAGCCTGTCTCATCTCTAGGAGCTGCCAGGTGAGGGGTCCTGCGACAGGCACCTGTGCAAAGATATCTACCATGGGCAGCAAGGAAGGTTCCAGAAAGTACCGGAGGGAGAGTTGTGTTGGGGCTTGGGGGCTTTCTAGAGCAGAGGCTGTGAGAGGAAGTGAGCTGGGTCCCAGCACCAGGCAGCCTTTAGGCAGCTGTGATTGGAACAGCACTGTGGGC... |
Task1_train_26289 | A mutation on Chromosome 19 affecting GNA11 (G protein subunit alpha 11) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | GGAGCTCAGGTGCTGTGGGCAGTTCCTGGGCTTTGTCGAGGGCCTCCCGAAGGCAGCACTGTGGCCACCGTGGGACACATGCAGCCTGTCTCATCTCTAGGAGCTGCCAGGTGAGGGGTCCTGCGACAGGCACCTGTGCAAAGATATCTACCATGGGCAGCAAGGAAGGTTCCAGAAAGTACCGGAGGGAGAGTTGTGTTGGGGCTTGGGGGCTTTCTAGAGCAGAGGCTGTGAGAGGAAGTGAGCTGGGTCCCAGCACCAGGCAGCCTTTAGGCAGCTGTGATTGGAACAGCACTGTGGGCAGAGGGCAACAGCGTAGG... | GGAGCTCAGGTGCTGTGGGCAGTTCCTGGGCTTTGTCGAGGGCCTCCCGAAGGCAGCACTGTGGCCACCGTGGGACACATGCAGCCTGTCTCATCTCTAGGAGCTGCCAGGTGAGGGGTCCTGCGACAGGCACCTGTGCAAAGATATCTACCATGGGCAGCAAGGAAGGTTCCAGAAAGTACCGGAGGGAGAGTTGTGTTGGGGCTTGGGGGCTTTCTAGAGCAGAGGCTGTGAGAGGAAGTGAGCTGGGTCCCAGCACCAGGCAGCCTTTAGGCAGCTGTGATTGGAACAGCACTGTGGGCAGAGGGCAACAGCGTAGG... |
Task1_train_26290 | Here’s a variant in GNA11 (G protein subunit alpha 11) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Familial hypocalciuric hypercalcemia 2 | TGCCTCTGTGGATCGGTCTGTCCTGAACATTTCATAGAAATGGGATTGCACGCCATGTGGCCTTTTGTGTCCGGCGTCTCTCACTGAGTGTGACGTCCTCAAGGTGCATCCACACAGTGGCCTGTGTCAGAGCCTCGTCCCTGTTCATGGCTGAGTCATGTTCCAGTGCATGGAGGGACCGCGTATTTGCCCATTTATCCCCTGGAGGACATTTGAGTGCCTTCATGTGTGGGCTGTTGGGAACGGAGCTGCCGTGACCGTCTGTGGACGTGTGTTTATGTGGATGATGTGTTCCCTTCCCTCAGTTGCATGCTACGCCT... | TGCCTCTGTGGATCGGTCTGTCCTGAACATTTCATAGAAATGGGATTGCACGCCATGTGGCCTTTTGTGTCCGGCGTCTCTCACTGAGTGTGACGTCCTCAAGGTGCATCCACACAGTGGCCTGTGTCAGAGCCTCGTCCCTGTTCATGGCTGAGTCATGTTCCAGTGCATGGAGGGACCGCGTATTTGCCCATTTATCCCCTGGAGGACATTTGAGTGCCTTCATGTGTGGGCTGTTGGGAACGGAGCTGCCGTGACCGTCTGTGGACGTGTGTTTATGTGGATGATGTGTTCCCTTCCCTCAGTTGCATGCTACGCCT... |
Task1_train_26291 | A mutation in GNA11 (G protein subunit alpha 11), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Capillary malformation | CTCGGCGCTGCACTGCCCTCCTGTGGGTCCTGGGTTTGAAGTGTGTGTGTTCTACACGTGCTTGTTCCCCACACCGTCCCCTCCCCACCTCTAAGAAGTGAATCGAAGCCCGGCCTCCCCGGCACCCTGCAGACCGCACCGCCGGGAGGCTTTGCTTGTGGGGCCTTGTTCGGAGGAACCACACCGCCAGGCGGCCTCGCGTTTTTCTGACACGTGTTCACACGGAACTGTCAGTGGTCCTGACTGCACAGCCTGCGGAATGCCGCCCGGGCCAGCCGAGGCCTGGAAGAGGGGCCGTCACAAGCTTTCTGGTGGATGTG... | CTCGGCGCTGCACTGCCCTCCTGTGGGTCCTGGGTTTGAAGTGTGTGTGTTCTACACGTGCTTGTTCCCCACACCGTCCCCTCCCCACCTCTAAGAAGTGAATCGAAGCCCGGCCTCCCCGGCACCCTGCAGACCGCACCGCCGGGAGGCTTTGCTTGTGGGGCCTTGTTCGGAGGAACCACACCGCCAGGCGGCCTCGCGTTTTTCTGACACGTGTTCACACGGAACTGTCAGTGGTCCTGACTGCACAGCCTGCGGAATGCCGCCCGGGCCAGCCGAGGCCTGGAAGAGGGGCCGTCACAAGCTTTCTGGTGGATGTG... |
Task1_train_26292 | This genomic variant is located on Chromosome 19, within the GNA11 (G protein subunit alpha 11) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Segmental undergrowth associated with capillary malformation | CTCGGCGCTGCACTGCCCTCCTGTGGGTCCTGGGTTTGAAGTGTGTGTGTTCTACACGTGCTTGTTCCCCACACCGTCCCCTCCCCACCTCTAAGAAGTGAATCGAAGCCCGGCCTCCCCGGCACCCTGCAGACCGCACCGCCGGGAGGCTTTGCTTGTGGGGCCTTGTTCGGAGGAACCACACCGCCAGGCGGCCTCGCGTTTTTCTGACACGTGTTCACACGGAACTGTCAGTGGTCCTGACTGCACAGCCTGCGGAATGCCGCCCGGGCCAGCCGAGGCCTGGAAGAGGGGCCGTCACAAGCTTTCTGGTGGATGTG... | CTCGGCGCTGCACTGCCCTCCTGTGGGTCCTGGGTTTGAAGTGTGTGTGTTCTACACGTGCTTGTTCCCCACACCGTCCCCTCCCCACCTCTAAGAAGTGAATCGAAGCCCGGCCTCCCCGGCACCCTGCAGACCGCACCGCCGGGAGGCTTTGCTTGTGGGGCCTTGTTCGGAGGAACCACACCGCCAGGCGGCCTCGCGTTTTTCTGACACGTGTTCACACGGAACTGTCAGTGGTCCTGACTGCACAGCCTGCGGAATGCCGCCCGGGCCAGCCGAGGCCTGGAAGAGGGGCCGTCACAAGCTTTCTGGTGGATGTG... |
Task1_train_26293 | A variant on Chromosome 19 in gene GNA11 (G protein subunit alpha 11) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; CLOVES syndrome | CTCGGCGCTGCACTGCCCTCCTGTGGGTCCTGGGTTTGAAGTGTGTGTGTTCTACACGTGCTTGTTCCCCACACCGTCCCCTCCCCACCTCTAAGAAGTGAATCGAAGCCCGGCCTCCCCGGCACCCTGCAGACCGCACCGCCGGGAGGCTTTGCTTGTGGGGCCTTGTTCGGAGGAACCACACCGCCAGGCGGCCTCGCGTTTTTCTGACACGTGTTCACACGGAACTGTCAGTGGTCCTGACTGCACAGCCTGCGGAATGCCGCCCGGGCCAGCCGAGGCCTGGAAGAGGGGCCGTCACAAGCTTTCTGGTGGATGTG... | CTCGGCGCTGCACTGCCCTCCTGTGGGTCCTGGGTTTGAAGTGTGTGTGTTCTACACGTGCTTGTTCCCCACACCGTCCCCTCCCCACCTCTAAGAAGTGAATCGAAGCCCGGCCTCCCCGGCACCCTGCAGACCGCACCGCCGGGAGGCTTTGCTTGTGGGGCCTTGTTCGGAGGAACCACACCGCCAGGCGGCCTCGCGTTTTTCTGACACGTGTTCACACGGAACTGTCAGTGGTCCTGACTGCACAGCCTGCGGAATGCCGCCCGGGCCAGCCGAGGCCTGGAAGAGGGGCCGTCACAAGCTTTCTGGTGGATGTG... |
Task1_train_26294 | The gene GNA11 (G protein subunit alpha 11) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | CACCCCAGGGCTGGGGGTGCCACCCCCTGCCATCTGCCTGTTCTCCCCACCCGTCCTCCCAGCTCGGCCTCCCAGCGCAGGCAGGGAGGATGCGGCGTGAAGATGGAGGCAGGGATGGAGCAATGTGGCCACAAGCCAAGGAATGCCAAGCTCTGGGATGGTTCCCGGGGACCCGAGCAGGCGCTGGGCCCTCAGAAGCTGCGGTGTCCTCTCTGGACATGGGCGATGGTGTATATTGTTACGAGAATTCAAGTTTTTCTTCTTTTTTATTCACACGGGGCCCATGACCCCAGGATACAGCTGAGGCGAGCCAGGCATAG... | CACCCCAGGGCTGGGGGTGCCACCCCCTGCCATCTGCCTGTTCTCCCCACCCGTCCTCCCAGCTCGGCCTCCCAGCGCAGGCAGGGAGGATGCGGCGTGAAGATGGAGGCAGGGATGGAGCAATGTGGCCACAAGCCAAGGAATGCCAAGCTCTGGGATGGTTCCCGGGGACCCGAGCAGGCGCTGGGCCCTCAGAAGCTGCGGTGTCCTCTCTGGACATGGGCGATGGTGTATATTGTTACGAGAATTCAAGTTTTTCTTCTTTTTTATTCACACGGGGCCCATGACCCCAGGATACAGCTGAGGCGAGCCAGGCATAG... |
Task1_train_26295 | Chromosome 19 houses a mutation in gene GNA11 (G protein subunit alpha 11). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Autosomal dominant hypocalcemia 2 | AGGGCTGGGGGTGCCACCCCCTGCCATCTGCCTGTTCTCCCCACCCGTCCTCCCAGCTCGGCCTCCCAGCGCAGGCAGGGAGGATGCGGCGTGAAGATGGAGGCAGGGATGGAGCAATGTGGCCACAAGCCAAGGAATGCCAAGCTCTGGGATGGTTCCCGGGGACCCGAGCAGGCGCTGGGCCCTCAGAAGCTGCGGTGTCCTCTCTGGACATGGGCGATGGTGTATATTGTTACGAGAATTCAAGTTTTTCTTCTTTTTTATTCACACGGGGCCCATGACCCCAGGATACAGCTGAGGCGAGCCAGGCATAGGCCAGG... | AGGGCTGGGGGTGCCACCCCCTGCCATCTGCCTGTTCTCCCCACCCGTCCTCCCAGCTCGGCCTCCCAGCGCAGGCAGGGAGGATGCGGCGTGAAGATGGAGGCAGGGATGGAGCAATGTGGCCACAAGCCAAGGAATGCCAAGCTCTGGGATGGTTCCCGGGGACCCGAGCAGGCGCTGGGCCCTCAGAAGCTGCGGTGTCCTCTCTGGACATGGGCGATGGTGTATATTGTTACGAGAATTCAAGTTTTTCTTCTTTTTTATTCACACGGGGCCCATGACCCCAGGATACAGCTGAGGCGAGCCAGGCATAGGCCAGG... |
Task1_train_26296 | This sequence change occurs on Chromosome 19, altering GNA11 (G protein subunit alpha 11). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal dominant hypocalcemia 2 | GGGCAGCGTTGGGGGCCGGGCCTTCCCCACCTGCCAAGCCTGGGTCCCCTCACCTGGGTCCCCCCAGCTGCCCCTTGGGCTGTGTGCAGTGGGGAGGGCCCCTCTGATTCCCTCTGCCTTCGCTCCCGCCAGAACCGGATGGAGGAGAGCAAAGCCCTGTTCCGGACCATCATCACCTACCCCTGGTTCCAGAACTCCTCCGTCATCCTCTTCCTCAACAAGAAGGACCTGCTGGAGGACAAGATCCTGTACTCGCACCTGGTGGACTACTTCCCCGAGTTCGATGGTGCGCCGGGCTGCGGCATGGGGAGGGGCTCGCG... | GGGCAGCGTTGGGGGCCGGGCCTTCCCCACCTGCCAAGCCTGGGTCCCCTCACCTGGGTCCCCCCAGCTGCCCCTTGGGCTGTGTGCAGTGGGGAGGGCCCCTCTGATTCCCTCTGCCTTCGCTCCCGCCAGAACCGGATGGAGGAGAGCAAAGCCCTGTTCCGGACCATCATCACCTACCCCTGGTTCCAGAACTCCTCCGTCATCCTCTTCCTCAACAAGAAGGACCTGCTGGAGGACAAGATCCTGTACTCGCACCTGGTGGACTACTTCCCCGAGTTCGATGGTGCGCCGGGCTGCGGCATGGGGAGGGGCTCGCG... |
Task1_train_26297 | This mutation occurs in DOHH (deoxyhypusine hydroxylase) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment | TGTAAGCCCAGCACTTTGGGAGGCCGAGGCAGGAGATCGAGACCATCCACCATCCTGGCTAACACAGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGCAGCGTGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTGGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCGAAAAAAAAAAAAAAACAAAAAAAAAATTTAGCTGGGCATGATGGTGCATGCCTGTAATCCCAGTTACTTGT... | TGTAAGCCCAGCACTTTGGGAGGCCGAGGCAGGAGATCGAGACCATCCACCATCCTGGCTAACACAGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGCAGCGTGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTGGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCGAAAAAAAAAAAAAAACAAAAAAAAAATTTAGCTGGGCATGATGGTGCATGCCTGTAATCCCAGTTACTTGT... |
Task1_train_26298 | Here’s a variant in DOHH (deoxyhypusine hydroxylase) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; DOHH related neurodevelopmental disorder | TGTAAGCCCAGCACTTTGGGAGGCCGAGGCAGGAGATCGAGACCATCCACCATCCTGGCTAACACAGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGCAGCGTGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTGGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCGAAAAAAAAAAAAAAACAAAAAAAAAATTTAGCTGGGCATGATGGTGCATGCCTGTAATCCCAGTTACTTGT... | TGTAAGCCCAGCACTTTGGGAGGCCGAGGCAGGAGATCGAGACCATCCACCATCCTGGCTAACACAGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGCAGCGTGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTGGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCGAAAAAAAAAAAAAAACAAAAAAAAAATTTAGCTGGGCATGATGGTGCATGCCTGTAATCCCAGTTACTTGT... |
Task1_train_26299 | A sequence alteration has been identified in DOHH (deoxyhypusine hydroxylase) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment | TTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGCAGCGTGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTGGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCGAAAAAAAAAAAAAAACAAAAAAAAAATTTAGCTGGGCATGATGGTGCATGCCTGTAATCCCAGTTACTTGTTAAGCTGAGGCAGGAGAAGTGCTTGAGCCTGGCAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGC... | TTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGCAGCGTGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTGGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCGAAAAAAAAAAAAAAACAAAAAAAAAATTTAGCTGGGCATGATGGTGCATGCCTGTAATCCCAGTTACTTGTTAAGCTGAGGCAGGAGAAGTGCTTGAGCCTGGCAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGC... |
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