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_15600 | A genomic change on Chromosome 11 affects RAG1 (recombination activating 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Combined immunodeficiency with skin granulomas | TTTGAGATAGGTGGATGGGATGATGGATTGAAAATACAGCTGCTCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTG... | TTTGAGATAGGTGGATGGGATGATGGATTGAAAATACAGCTGCTCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTG... |
Task1_train_15601 | A genetic alteration is present in RAG1 (recombination activating 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | TTTGAGATAGGTGGATGGGATGATGGATTGAAAATACAGCTGCTCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTG... | TTTGAGATAGGTGGATGGGATGATGGATTGAAAATACAGCTGCTCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTG... |
Task1_train_15602 | This variant affects the gene RAG1 (recombination activating 1) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency | TCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCA... | TCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCA... |
Task1_train_15603 | The following genetic variant occurs in RAG1 (recombination activating 1) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency | TCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCA... | TCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCA... |
Task1_train_15604 | This variant impacts the gene RAG1 (recombination activating 1) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Histiocytic medullary reticulosis | TCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCA... | TCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCA... |
Task1_train_15605 | This sequence change occurs on Chromosome 11, altering RAG1 (recombination activating 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Combined immunodeficiency with skin granulomas | TCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCA... | TCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCA... |
Task1_train_15606 | A mutation on Chromosome 11 affecting RAG1 (recombination activating 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | TCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCA... | TCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCA... |
Task1_train_15607 | A genetic alteration is present in RAG1 (recombination activating 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Combined immunodeficiency with skin granulomas | TCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCA... | TCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCA... |
Task1_train_15608 | A sequence alteration has been identified in RAG1 (recombination activating 1) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | TCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCA... | TCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCA... |
Task1_train_15609 | The variant affects gene RAG1 (recombination activating 1), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency | TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTT... | TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTT... |
Task1_train_15610 | A variant has been detected on Chromosome 11 in RAG1 (recombination activating 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTT... | TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTT... |
Task1_train_15611 | The gene RAG1 (recombination activating 1) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Histiocytic medullary reticulosis | TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTT... | TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTT... |
Task1_train_15612 | This gene mutation involves RAG1 (recombination activating 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency | TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTT... | TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTT... |
Task1_train_15613 | The variant affects gene RAG1 (recombination activating 1), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Combined immunodeficiency with skin granulomas | TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTT... | TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTT... |
Task1_train_15614 | This variant lies on Chromosome 11 and affects the gene RAG1 (recombination activating 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTT... | TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTT... |
Task1_train_15615 | A variant found in Chromosome 11 affects RAG1 (recombination activating 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTT... | TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTT... |
Task1_train_15616 | Gene RAG1 (recombination activating 1) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Combined immunodeficiency with skin granulomas | TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTT... | TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTT... |
Task1_train_15617 | A mutation in RAG1 (recombination activating 1), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Histiocytic medullary reticulosis | TATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGG... | TATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGG... |
Task1_train_15618 | Here is a genetic alteration in RAG1 (recombination activating 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency | TATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGG... | TATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGG... |
Task1_train_15619 | This variant lies on Chromosome 11 and affects the gene RAG1 (recombination activating 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Combined immunodeficiency with skin granulomas | TATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGG... | TATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGG... |
Task1_train_15620 | A genetic alteration is present in RAG1 (recombination activating 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | TATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGG... | TATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGG... |
Task1_train_15621 | A variant has been detected on Chromosome 11 in RAG1 (recombination activating 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Histiocytic medullary reticulosis | ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGG... | ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGG... |
Task1_train_15622 | This genomic variant is located on Chromosome 11, within the RAG1 (recombination activating 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency | ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGG... | ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGG... |
Task1_train_15623 | A genetic alteration is present in RAG1 (recombination activating 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Combined immunodeficiency with skin granulomas | ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGG... | ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGG... |
Task1_train_15624 | This gene mutation involves RAG1 (recombination activating 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGG... | ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGG... |
Task1_train_15625 | A change on Chromosome 11 affects gene RAG1 (recombination activating 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency | ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGG... | ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGG... |
Task1_train_15626 | Consider a variant on Chromosome 11 in gene RAG1 (recombination activating 1). Determine its clinical classification and disease relevance. | Pathogenic; Histiocytic medullary reticulosis | ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGG... | ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGG... |
Task1_train_15627 | Here’s a variant in RAG1 (recombination activating 1) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Combined immunodeficiency with skin granulomas | ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGG... | ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGG... |
Task1_train_15628 | Consider a variant on Chromosome 11 in gene RAG1 (recombination activating 1). Determine its clinical classification and disease relevance. | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGG... | ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGG... |
Task1_train_15629 | The gene RAG1 (recombination activating 1), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency | ACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTAT... | ACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTAT... |
Task1_train_15630 | A mutation on Chromosome 11 affecting RAG1 (recombination activating 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTAT... | ACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTAT... |
Task1_train_15631 | Chromosome 11 houses a mutation in gene RAG1 (recombination activating 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Combined immunodeficiency with skin granulomas | ACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTAT... | ACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTAT... |
Task1_train_15632 | Located on Chromosome 11, this mutation impacts RAG1 (recombination activating 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency | ACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTAT... | ACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTAT... |
Task1_train_15633 | A genomic change on Chromosome 11 affects RAG1 (recombination activating 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Histiocytic medullary reticulosis | ACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTAT... | ACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTAT... |
Task1_train_15634 | The gene RAG1 (recombination activating 1) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTAT... | ACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTAT... |
Task1_train_15635 | This gene mutation involves RAG1 (recombination activating 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Combined immunodeficiency with skin granulomas | ACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTAT... | ACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTAT... |
Task1_train_15636 | The gene RAG1 (recombination activating 1), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Histiocytic medullary reticulosis | AGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTA... | AGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTA... |
Task1_train_15637 | A genetic alteration is present in RAG1 (recombination activating 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Severe combined immunodeficiency disease | ATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGG... | ATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGG... |
Task1_train_15638 | This mutation is located in gene RAG1 (recombination activating 1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency | ATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGG... | ATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGG... |
Task1_train_15639 | This sequence change occurs on Chromosome 11, altering RAG1 (recombination activating 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Recombinase activating gene 1 deficiency | TTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGA... | TTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGA... |
Task1_train_15640 | This mutation is located in gene RAG1 (recombination activating 1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency | TATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGA... | TATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGA... |
Task1_train_15641 | The variant affects gene RAG1 (recombination activating 1), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Combined immunodeficiency with skin granulomas | TATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGA... | TATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGA... |
Task1_train_15642 | The following genetic variant occurs in RAG1 (recombination activating 1) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Combined immunodeficiency with skin granulomas | TATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGA... | TATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGA... |
Task1_train_15643 | Given this context: Chromosome 11, gene RAG1 (recombination activating 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | TATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGA... | TATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGA... |
Task1_train_15644 | A variant found in Chromosome 11 affects RAG1 (recombination activating 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Histiocytic medullary reticulosis | ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAA... | ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAA... |
Task1_train_15645 | A variant affecting Chromosome 11, within the gene RAG1 (recombination activating 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Combined immunodeficiency with skin granulomas | ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAA... | ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAA... |
Task1_train_15646 | This mutation is located in gene RAG1 (recombination activating 1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAA... | ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAA... |
Task1_train_15647 | This is a variant in RAG1 (recombination activating 1), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Combined immunodeficiency with skin granulomas | ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAA... | ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAA... |
Task1_train_15648 | This mutation is located in gene RAG1 (recombination activating 1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Histiocytic medullary reticulosis | ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAA... | ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAA... |
Task1_train_15649 | This variant affects the gene RAG1 (recombination activating 1) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAA... | ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAA... |
Task1_train_15650 | Here’s a variant in RAG1 (recombination activating 1) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency | ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAA... | ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAA... |
Task1_train_15651 | Gene RAG1 (recombination activating 1) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency | ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAA... | ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAA... |
Task1_train_15652 | Mutation context: Chromosome 11, Gene RAG1 (recombination activating 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Severe combined immunodeficiency disease | ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAA... | ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAA... |
Task1_train_15653 | Consider this mutation in RAG1 (recombination activating 1) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | AAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGG... | AAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGG... |
Task1_train_15654 | This mutation is located in gene RAG1 (recombination activating 1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Combined immunodeficiency with skin granulomas | GAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCAC... | GAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCAC... |
Task1_train_15655 | This variant affects gene RAG1 (recombination activating 1) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | GAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCAC... | GAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCAC... |
Task1_train_15656 | Here is a genetic alteration in RAG1 (recombination activating 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Combined immunodeficiency with skin granulomas | GAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCAC... | GAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCAC... |
Task1_train_15657 | A variant was discovered on Chromosome 11, affecting RAG1 (recombination activating 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency | GAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCAC... | GAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCAC... |
Task1_train_15658 | Mutation context: Chromosome 11, Gene RAG1 (recombination activating 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | GAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCAC... | GAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCAC... |
Task1_train_15659 | A mutation on Chromosome 11 affecting RAG1 (recombination activating 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Histiocytic medullary reticulosis | GAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCAC... | GAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCAC... |
Task1_train_15660 | Given a variant located on Chromosome 11 and affecting RAG1 (recombination activating 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency | GAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCAC... | GAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCAC... |
Task1_train_15661 | Given a variant located on Chromosome 11 and affecting RAG1 (recombination activating 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Combined immunodeficiency with skin granulomas | TTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTG... | TTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTG... |
Task1_train_15662 | A sequence alteration has been identified in RAG1 (recombination activating 1) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | TTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTG... | TTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTG... |
Task1_train_15663 | Gene RAG1 (recombination activating 1), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | TTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTG... | TTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTG... |
Task1_train_15664 | A mutation in RAG1 (recombination activating 1), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Severe combined immunodeficiency disease | TTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTG... | TTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTG... |
Task1_train_15665 | Gene RAG1 (recombination activating 1) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | TGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATAT... | TGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATAT... |
Task1_train_15666 | Consider this mutation in RAG1 (recombination activating 1) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Combined immunodeficiency with skin granulomas | TGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATAT... | TGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATAT... |
Task1_train_15667 | A variant on Chromosome 11 in gene RAG1 (recombination activating 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | TGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATAT... | TGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATAT... |
Task1_train_15668 | Chromosome 11 houses a mutation in gene RAG1 (recombination activating 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency | TGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATAT... | TGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATAT... |
Task1_train_15669 | Given a variant located on Chromosome 11 and affecting RAG1 (recombination activating 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Severe combined immunodeficiency disease | TGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATAT... | TGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATAT... |
Task1_train_15670 | Gene RAG1 (recombination activating 1), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency | ACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAG... | ACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAG... |
Task1_train_15671 | This is a variant in RAG1 (recombination activating 1), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Combined immunodeficiency with skin granulomas | ACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAG... | ACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAG... |
Task1_train_15672 | Gene RAG1 (recombination activating 1) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAG... | ACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAG... |
Task1_train_15673 | Given this context: Chromosome 11, gene RAG1 (recombination activating 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Combined immunodeficiency with skin granulomas | CTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGG... | CTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGG... |
Task1_train_15674 | Assess the clinical impact of this variant on gene RAG1 (recombination activating 1), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | CTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGG... | CTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGG... |
Task1_train_15675 | Mutation context: Chromosome 11, Gene RAG1 (recombination activating 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Combined immunodeficiency with skin granulomas | CTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGG... | CTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGG... |
Task1_train_15676 | A variant was discovered in gene RAG1 (recombination activating 1), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Histiocytic medullary reticulosis | CTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGG... | CTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGG... |
Task1_train_15677 | With a mutation on Chromosome 11 in gene RAG1 (recombination activating 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | CTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGG... | CTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGG... |
Task1_train_15678 | Consider a variant on Chromosome 11 in gene RAG1 (recombination activating 1). Determine its clinical classification and disease relevance. | Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency | CTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGG... | CTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGG... |
Task1_train_15679 | This sequence change occurs on Chromosome 11, altering RAG1 (recombination activating 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency | CTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGG... | CTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGG... |
Task1_train_15680 | A variant was discovered on Chromosome 11, affecting RAG1 (recombination activating 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency | TCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGC... | TCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGC... |
Task1_train_15681 | Given a variant located on Chromosome 11 and affecting RAG1 (recombination activating 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Combined immunodeficiency with skin granulomas | TCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGC... | TCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGC... |
Task1_train_15682 | A change on Chromosome 11 affects gene RAG1 (recombination activating 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Histiocytic medullary reticulosis | TCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGC... | TCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGC... |
Task1_train_15683 | The gene RAG1 (recombination activating 1) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | TCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGC... | TCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGC... |
Task1_train_15684 | Gene RAG1 (recombination activating 1), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency | TCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGC... | TCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGC... |
Task1_train_15685 | A mutation in RAG1 (recombination activating 1), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Combined immunodeficiency with skin granulomas | TCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGC... | TCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGC... |
Task1_train_15686 | Located on Chromosome 11, this mutation impacts RAG1 (recombination activating 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | TCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGC... | TCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGC... |
Task1_train_15687 | This genomic variant is located on Chromosome 11, within the RAG1 (recombination activating 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | AAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAA... | AAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAA... |
Task1_train_15688 | Gene RAG1 (recombination activating 1), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Combined immunodeficiency with skin granulomas | AAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAA... | AAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAA... |
Task1_train_15689 | This mutation is located in gene RAG1 (recombination activating 1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency | AAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAA... | AAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAA... |
Task1_train_15690 | Here is a genetic alteration in RAG1 (recombination activating 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Severe combined immunodeficiency disease | AAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAA... | AAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAA... |
Task1_train_15691 | This sequence variant lies in RAG1 (recombination activating 1) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency | ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAAC... | ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAAC... |
Task1_train_15692 | A variant affecting Chromosome 11, within the gene RAG1 (recombination activating 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Severe combined immunodeficiency disease | ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAAC... | ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAAC... |
Task1_train_15693 | Given this variant in gene RAG1 (recombination activating 1) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Combined immunodeficiency with skin granulomas | ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAAC... | ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAAC... |
Task1_train_15694 | Gene RAG1 (recombination activating 1), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAAC... | ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAAC... |
Task1_train_15695 | A variant was discovered on Chromosome 11, affecting RAG1 (recombination activating 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency | ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAAC... | ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAAC... |
Task1_train_15696 | The variant affects gene RAG1 (recombination activating 1), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Histiocytic medullary reticulosis | ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAAC... | ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAAC... |
Task1_train_15697 | Located on Chromosome 11, this mutation impacts RAG1 (recombination activating 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Combined immunodeficiency with skin granulomas | ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAAC... | ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAAC... |
Task1_train_15698 | A variant was discovered on Chromosome 11, affecting RAG1 (recombination activating 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAAC... | ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAAC... |
Task1_train_15699 | A genomic change on Chromosome 11 affects RAG1 (recombination activating 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Combined immunodeficiency with skin granulomas | AGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACC... | AGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACC... |
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