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_15700 | 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 | AGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACC... | AGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACC... |
Task1_train_15701 | 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 | AGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACC... | AGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACC... |
Task1_train_15702 | 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; Combined immunodeficiency with skin granulomas | GAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCA... | GAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCA... |
Task1_train_15703 | 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; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | GAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCA... | GAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCA... |
Task1_train_15704 | 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 | GAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCA... | GAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCA... |
Task1_train_15705 | 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 | GAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCA... | GAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCA... |
Task1_train_15706 | 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 | TTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAG... | TTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAG... |
Task1_train_15707 | 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 | TTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAG... | TTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAG... |
Task1_train_15708 | 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 | TTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAG... | TTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAG... |
Task1_train_15709 | 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; Combined immunodeficiency due to partial RAG1 deficiency | TTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAG... | TTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAG... |
Task1_train_15710 | 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; Histiocytic medullary reticulosis | TTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAG... | TTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAG... |
Task1_train_15711 | Here is a variant affecting RAG1 (recombination activating 1) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Combined immunodeficiency with skin granulomas | TTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAG... | TTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAG... |
Task1_train_15712 | 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 | TTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAG... | TTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAG... |
Task1_train_15713 | 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; Histiocytic medullary reticulosis | CTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCT... | CTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCT... |
Task1_train_15714 | 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; RAG1-related disorder | TCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACA... | TCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACA... |
Task1_train_15715 | 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 | TCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACA... | TCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACA... |
Task1_train_15716 | 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 | TCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACA... | TCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACA... |
Task1_train_15717 | 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 due to partial RAG1 deficiency | TCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACA... | TCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACA... |
Task1_train_15718 | 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 | CATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGA... | CATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGA... |
Task1_train_15719 | This alteration occurs within gene RAG1 (recombination activating 1) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | AGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAG... | AGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAG... |
Task1_train_15720 | 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; Combined immunodeficiency with skin granulomas | AGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAG... | AGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAG... |
Task1_train_15721 | 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; Combined immunodeficiency due to partial RAG1 deficiency | AGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAG... | AGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAG... |
Task1_train_15722 | This alteration occurs within gene RAG1 (recombination activating 1) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency | AGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAG... | AGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAG... |
Task1_train_15723 | 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 | AGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAG... | AGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAG... |
Task1_train_15724 | Here is a mutation in RAG1 (recombination activating 1) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Combined immunodeficiency with skin granulomas | AGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAG... | AGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAG... |
Task1_train_15725 | 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; Histiocytic medullary reticulosis | AGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAG... | AGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAG... |
Task1_train_15726 | A variant found in Chromosome 11 affects RAG2 (recombination activating 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Combined immunodeficiency with skin granulomas | TGTTTCCCGTAAATTTGTTAGTTGTACCTTACACACTGTAGACTTTCAGTGAGGAGTAAGAGTCTTCACTGTAACTGTGGCTGAAGCTCTTAAGATAAGGTTTTTCCAGAAAATTTTTTTTTCCGGAAAATATTTCAGGAGGAAAGACATTTGTTTCTAAGGTCATCTAGTTATCAACTGATGTCTTGAACCCTTAAAATTAACAGTCATTTTAACTAGTTTCATCCTAGCGAGTGTCTAATTAGACCTTGGCAAGATCACTGATTTTATAATATTCACTGGCAGCAATCTCCACATGTTAACTACACACACACACACAC... | TGTTTCCCGTAAATTTGTTAGTTGTACCTTACACACTGTAGACTTTCAGTGAGGAGTAAGAGTCTTCACTGTAACTGTGGCTGAAGCTCTTAAGATAAGGTTTTTCCAGAAAATTTTTTTTTCCGGAAAATATTTCAGGAGGAAAGACATTTGTTTCTAAGGTCATCTAGTTATCAACTGATGTCTTGAACCCTTAAAATTAACAGTCATTTTAACTAGTTTCATCCTAGCGAGTGTCTAATTAGACCTTGGCAAGATCACTGATTTTATAATATTCACTGGCAGCAATCTCCACATGTTAACTACACACACACACACAC... |
Task1_train_15727 | This mutation is located in gene RAG2 (recombination activating 2) 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 | TGTTTCCCGTAAATTTGTTAGTTGTACCTTACACACTGTAGACTTTCAGTGAGGAGTAAGAGTCTTCACTGTAACTGTGGCTGAAGCTCTTAAGATAAGGTTTTTCCAGAAAATTTTTTTTTCCGGAAAATATTTCAGGAGGAAAGACATTTGTTTCTAAGGTCATCTAGTTATCAACTGATGTCTTGAACCCTTAAAATTAACAGTCATTTTAACTAGTTTCATCCTAGCGAGTGTCTAATTAGACCTTGGCAAGATCACTGATTTTATAATATTCACTGGCAGCAATCTCCACATGTTAACTACACACACACACACAC... | TGTTTCCCGTAAATTTGTTAGTTGTACCTTACACACTGTAGACTTTCAGTGAGGAGTAAGAGTCTTCACTGTAACTGTGGCTGAAGCTCTTAAGATAAGGTTTTTCCAGAAAATTTTTTTTTCCGGAAAATATTTCAGGAGGAAAGACATTTGTTTCTAAGGTCATCTAGTTATCAACTGATGTCTTGAACCCTTAAAATTAACAGTCATTTTAACTAGTTTCATCCTAGCGAGTGTCTAATTAGACCTTGGCAAGATCACTGATTTTATAATATTCACTGGCAGCAATCTCCACATGTTAACTACACACACACACACAC... |
Task1_train_15728 | A genomic change on Chromosome 11 affects RAG2 (recombination activating 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Common variable immunodeficiency | AATTAACAGTCATTTTAACTAGTTTCATCCTAGCGAGTGTCTAATTAGACCTTGGCAAGATCACTGATTTTATAATATTCACTGGCAGCAATCTCCACATGTTAACTACACACACACACACACACACACACACACTCACACAAATACATTTCTTTTCCTCCATTTAAATCTTCTGCCTGTAAATGTCATGAAATTCTTTAAACTTACATTATTTTGGGAAATAATATTATTCTTCTCCATGAGATTTATTTGGTGGTCCTTTCTTATTGTATTCTTACTCACTTCCTTTTTCCAGAGTACTAAGTAGCAATGGGCTCCAG... | AATTAACAGTCATTTTAACTAGTTTCATCCTAGCGAGTGTCTAATTAGACCTTGGCAAGATCACTGATTTTATAATATTCACTGGCAGCAATCTCCACATGTTAACTACACACACACACACACACACACACACACTCACACAAATACATTTCTTTTCCTCCATTTAAATCTTCTGCCTGTAAATGTCATGAAATTCTTTAAACTTACATTATTTTGGGAAATAATATTATTCTTCTCCATGAGATTTATTTGGTGGTCCTTTCTTATTGTATTCTTACTCACTTCCTTTTTCCAGAGTACTAAGTAGCAATGGGCTCCAG... |
Task1_train_15729 | A variant affecting Chromosome 11, within the gene RAG2 (recombination activating 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not specified | TACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTC... | TACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTC... |
Task1_train_15730 | The gene RAG2 (recombination activating 2) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Combined immunodeficiency with skin granulomas | TACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTC... | TACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTC... |
Task1_train_15731 | A change on Chromosome 11 affects gene RAG2 (recombination activating 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | TACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTC... | TACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTC... |
Task1_train_15732 | Here is a genetic alteration in RAG2 (recombination activating 2) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Recombinase activating gene 2 deficiency | GTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTCAGTGAAGAATAAATTAGTAAATTGAGTATTTGGGTAAAATATTTTCAAAATGTATAGGGTCTAGAATGACTTTATTTATCATTGCATTATAA... | GTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTCAGTGAAGAATAAATTAGTAAATTGAGTATTTGGGTAAAATATTTTCAAAATGTATAGGGTCTAGAATGACTTTATTTATCATTGCATTATAA... |
Task1_train_15733 | This alteration occurs within gene EXT2 (exostosin glycosyltransferase 2) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Exostoses, multiple, type 2 | AGCAGGAGGAGAACTGTGAGAAAACATGCAGAACACTGGGTTAGGGAGGGTGGAGAATACAAGGCCGTGGAGAGGAAGGCTCAGTGTCAGAGGAGACGTCCCAGAATCAGGCAGCCCTGCAAAGTGCTAAAAATGCTGGAGAGCGCCTCCAGTGATTATAATACTTGGCCTGACCTGAGTCAGATCATCATATTAATACTTCTTTAGCTGCAGGTTTTCTTTTCAGTCTCTTGCAGCTTTGGAACTAATCTCTGATTTGGGGATACATAATGGGAAAACAGAATGTGCTGTTCAGAAATTCACTTTTCAGTCAATGTAAA... | AGCAGGAGGAGAACTGTGAGAAAACATGCAGAACACTGGGTTAGGGAGGGTGGAGAATACAAGGCCGTGGAGAGGAAGGCTCAGTGTCAGAGGAGACGTCCCAGAATCAGGCAGCCCTGCAAAGTGCTAAAAATGCTGGAGAGCGCCTCCAGTGATTATAATACTTGGCCTGACCTGAGTCAGATCATCATATTAATACTTCTTTAGCTGCAGGTTTTCTTTTCAGTCTCTTGCAGCTTTGGAACTAATCTCTGATTTGGGGATACATAATGGGAAAACAGAATGTGCTGTTCAGAAATTCACTTTTCAGTCAATGTAAA... |
Task1_train_15734 | The gene EXT2 (exostosin glycosyltransferase 2) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Exostoses, multiple, type 2 | AACTGTGAGAAAACATGCAGAACACTGGGTTAGGGAGGGTGGAGAATACAAGGCCGTGGAGAGGAAGGCTCAGTGTCAGAGGAGACGTCCCAGAATCAGGCAGCCCTGCAAAGTGCTAAAAATGCTGGAGAGCGCCTCCAGTGATTATAATACTTGGCCTGACCTGAGTCAGATCATCATATTAATACTTCTTTAGCTGCAGGTTTTCTTTTCAGTCTCTTGCAGCTTTGGAACTAATCTCTGATTTGGGGATACATAATGGGAAAACAGAATGTGCTGTTCAGAAATTCACTTTTCAGTCAATGTAAACCATGTGTTCT... | AACTGTGAGAAAACATGCAGAACACTGGGTTAGGGAGGGTGGAGAATACAAGGCCGTGGAGAGGAAGGCTCAGTGTCAGAGGAGACGTCCCAGAATCAGGCAGCCCTGCAAAGTGCTAAAAATGCTGGAGAGCGCCTCCAGTGATTATAATACTTGGCCTGACCTGAGTCAGATCATCATATTAATACTTCTTTAGCTGCAGGTTTTCTTTTCAGTCTCTTGCAGCTTTGGAACTAATCTCTGATTTGGGGATACATAATGGGAAAACAGAATGTGCTGTTCAGAAATTCACTTTTCAGTCAATGTAAACCATGTGTTCT... |
Task1_train_15735 | Consider this mutation in EXT2 (exostosin glycosyltransferase 2) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Seizures-scoliosis-macrocephaly syndrome | AACTGTGAGAAAACATGCAGAACACTGGGTTAGGGAGGGTGGAGAATACAAGGCCGTGGAGAGGAAGGCTCAGTGTCAGAGGAGACGTCCCAGAATCAGGCAGCCCTGCAAAGTGCTAAAAATGCTGGAGAGCGCCTCCAGTGATTATAATACTTGGCCTGACCTGAGTCAGATCATCATATTAATACTTCTTTAGCTGCAGGTTTTCTTTTCAGTCTCTTGCAGCTTTGGAACTAATCTCTGATTTGGGGATACATAATGGGAAAACAGAATGTGCTGTTCAGAAATTCACTTTTCAGTCAATGTAAACCATGTGTTCT... | AACTGTGAGAAAACATGCAGAACACTGGGTTAGGGAGGGTGGAGAATACAAGGCCGTGGAGAGGAAGGCTCAGTGTCAGAGGAGACGTCCCAGAATCAGGCAGCCCTGCAAAGTGCTAAAAATGCTGGAGAGCGCCTCCAGTGATTATAATACTTGGCCTGACCTGAGTCAGATCATCATATTAATACTTCTTTAGCTGCAGGTTTTCTTTTCAGTCTCTTGCAGCTTTGGAACTAATCTCTGATTTGGGGATACATAATGGGAAAACAGAATGTGCTGTTCAGAAATTCACTTTTCAGTCAATGTAAACCATGTGTTCT... |
Task1_train_15736 | Given a variant located on Chromosome 11 and affecting EXT2 (exostosin glycosyltransferase 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Exostoses, multiple, type 2 | AACTGTGAGAAAACATGCAGAACACTGGGTTAGGGAGGGTGGAGAATACAAGGCCGTGGAGAGGAAGGCTCAGTGTCAGAGGAGACGTCCCAGAATCAGGCAGCCCTGCAAAGTGCTAAAAATGCTGGAGAGCGCCTCCAGTGATTATAATACTTGGCCTGACCTGAGTCAGATCATCATATTAATACTTCTTTAGCTGCAGGTTTTCTTTTCAGTCTCTTGCAGCTTTGGAACTAATCTCTGATTTGGGGATACATAATGGGAAAACAGAATGTGCTGTTCAGAAATTCACTTTTCAGTCAATGTAAACCATGTGTTCT... | AACTGTGAGAAAACATGCAGAACACTGGGTTAGGGAGGGTGGAGAATACAAGGCCGTGGAGAGGAAGGCTCAGTGTCAGAGGAGACGTCCCAGAATCAGGCAGCCCTGCAAAGTGCTAAAAATGCTGGAGAGCGCCTCCAGTGATTATAATACTTGGCCTGACCTGAGTCAGATCATCATATTAATACTTCTTTAGCTGCAGGTTTTCTTTTCAGTCTCTTGCAGCTTTGGAACTAATCTCTGATTTGGGGATACATAATGGGAAAACAGAATGTGCTGTTCAGAAATTCACTTTTCAGTCAATGTAAACCATGTGTTCT... |
Task1_train_15737 | A variant has been detected on Chromosome 11 in EXT2 (exostosin glycosyltransferase 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Exostoses, multiple, type 2 | AGTGTGACTGACAAACTGAACTTTTAATTTTATTTACTTTTAATTAGTTTAATTTAAATGGCCTCACGTGGCTAGTTGCTATTAGTGAAGTTCTAGGGAGTCTGCTGGTTCCTTTTTTTCTTAATTGTGATGTGTTAAGTGCCTTTTGCTCTTAGTTAGGCCAAAACCAGAATTGATCCTGAGGACGTAAAAGCAGTCTGGCTGTGGTATAGGTTGCTCTTTTCTCTGGGTTTGTATGACTAGTCTAGCTGGCTAGGCAGGTGTTCACCTTCACTCATTGCTTTATGTGATTTGGACCTGAAGCTTAATCCTCTATAAAA... | AGTGTGACTGACAAACTGAACTTTTAATTTTATTTACTTTTAATTAGTTTAATTTAAATGGCCTCACGTGGCTAGTTGCTATTAGTGAAGTTCTAGGGAGTCTGCTGGTTCCTTTTTTTCTTAATTGTGATGTGTTAAGTGCCTTTTGCTCTTAGTTAGGCCAAAACCAGAATTGATCCTGAGGACGTAAAAGCAGTCTGGCTGTGGTATAGGTTGCTCTTTTCTCTGGGTTTGTATGACTAGTCTAGCTGGCTAGGCAGGTGTTCACCTTCACTCATTGCTTTATGTGATTTGGACCTGAAGCTTAATCCTCTATAAAA... |
Task1_train_15738 | A variant has been detected on Chromosome 11 in EXT2 (exostosin glycosyltransferase 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Exostoses, multiple, type 2 | GAGGACCTAGAAGCCCTCCAGGTCAAACATGGAGAGTCAGTGTTAGTACTCGATAAATGCACCAACCTCTCAGAGGGTGTCCTTTCTGTCCGTAAGCGCTGCCACAAGCACCAGGTCTTCGATTACCCACAGGTGCTACAGGTGAGTGTCATTCATTACCTCTCGCAAAGGCTCAGGAGAGTTTGCTTACATGGGTTAAAATTGAGCCCAGCGAACCTGAGTTGTTTTCAGCATGCAACTAGAATTACCCAAGGGGAAGAAAACATAGCATTGCTCTTTACTGGACATGTAGACCTTCAGGTACTTGGATGTCTGGTGTC... | GAGGACCTAGAAGCCCTCCAGGTCAAACATGGAGAGTCAGTGTTAGTACTCGATAAATGCACCAACCTCTCAGAGGGTGTCCTTTCTGTCCGTAAGCGCTGCCACAAGCACCAGGTCTTCGATTACCCACAGGTGCTACAGGTGAGTGTCATTCATTACCTCTCGCAAAGGCTCAGGAGAGTTTGCTTACATGGGTTAAAATTGAGCCCAGCGAACCTGAGTTGTTTTCAGCATGCAACTAGAATTACCCAAGGGGAAGAAAACATAGCATTGCTCTTTACTGGACATGTAGACCTTCAGGTACTTGGATGTCTGGTGTC... |
Task1_train_15739 | A variant has been detected on Chromosome 11 in EXT2 (exostosin glycosyltransferase 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Exostoses, multiple, type 2 | TCAGTGTTAGTACTCGATAAATGCACCAACCTCTCAGAGGGTGTCCTTTCTGTCCGTAAGCGCTGCCACAAGCACCAGGTCTTCGATTACCCACAGGTGCTACAGGTGAGTGTCATTCATTACCTCTCGCAAAGGCTCAGGAGAGTTTGCTTACATGGGTTAAAATTGAGCCCAGCGAACCTGAGTTGTTTTCAGCATGCAACTAGAATTACCCAAGGGGAAGAAAACATAGCATTGCTCTTTACTGGACATGTAGACCTTCAGGTACTTGGATGTCTGGTGTCTTGTGTTCGTGCAAAGCTGCTTGGCCTATGAGAGTC... | TCAGTGTTAGTACTCGATAAATGCACCAACCTCTCAGAGGGTGTCCTTTCTGTCCGTAAGCGCTGCCACAAGCACCAGGTCTTCGATTACCCACAGGTGCTACAGGTGAGTGTCATTCATTACCTCTCGCAAAGGCTCAGGAGAGTTTGCTTACATGGGTTAAAATTGAGCCCAGCGAACCTGAGTTGTTTTCAGCATGCAACTAGAATTACCCAAGGGGAAGAAAACATAGCATTGCTCTTTACTGGACATGTAGACCTTCAGGTACTTGGATGTCTGGTGTCTTGTGTTCGTGCAAAGCTGCTTGGCCTATGAGAGTC... |
Task1_train_15740 | This alteration occurs within gene ALX4 (ALX homeobox 4) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Parietal foramina 2 | ATTCACCTCCAGCTCCTCCCCAGGCCCCTCACATCCATAGGCACCTGAGCAAGGTGAGCAGACCTCAACTCGGAGAGCTTTGGCCTCGCAGGTTCCCTTGGGCCCCCACCAGTAGCAGGGAAGATGGAGGGGTTGGGTGAGGTGGGCGGCAGGGACCTAAACCTCTCAGAAACCAAGGGTCAGTGGCTGAGGTTCCAGGGCCTGAACTAGGAGGCTTCAGAACTAACTCAGGATGGAAGGGGCTGCCTCAGGAGTGGACAGCCAGATCTGAGACCGGACCTCCTCGTGCCAAAGGGGCGAGGGCATGTGCAGGGATGAGT... | ATTCACCTCCAGCTCCTCCCCAGGCCCCTCACATCCATAGGCACCTGAGCAAGGTGAGCAGACCTCAACTCGGAGAGCTTTGGCCTCGCAGGTTCCCTTGGGCCCCCACCAGTAGCAGGGAAGATGGAGGGGTTGGGTGAGGTGGGCGGCAGGGACCTAAACCTCTCAGAAACCAAGGGTCAGTGGCTGAGGTTCCAGGGCCTGAACTAGGAGGCTTCAGAACTAACTCAGGATGGAAGGGGCTGCCTCAGGAGTGGACAGCCAGATCTGAGACCGGACCTCCTCGTGCCAAAGGGGCGAGGGCATGTGCAGGGATGAGT... |
Task1_train_15741 | A variant affecting Chromosome 11, within the gene ALX4 (ALX homeobox 4), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | GTTAAATTGAAACTTAAACTTGAGTGTGTGAATTTTGTCACCTGTATTTTGGCTACTCATGGGTCTTTTCTTTCTTTCTGATCCTTTCTTTGCTGTGAATTCATGCTGGTCGGGGCAGATACAGCTCTCTGGACAAGGGTTGATTGATCCACGGATACTTATTTTTTAGACTTGATGCTCTGCGTTTGGCTTTCTCTAATTGGTGGGAATACAGTGATGAACAATCAGTGCTTGATCTCAAGGAAATCACAGTTTAGTAGGAGGGGACAAACAAGTAAAATAACGTAAGCCAGTCAACAATCCTGTAAAGAAGACAAAAT... | GTTAAATTGAAACTTAAACTTGAGTGTGTGAATTTTGTCACCTGTATTTTGGCTACTCATGGGTCTTTTCTTTCTTTCTGATCCTTTCTTTGCTGTGAATTCATGCTGGTCGGGGCAGATACAGCTCTCTGGACAAGGGTTGATTGATCCACGGATACTTATTTTTTAGACTTGATGCTCTGCGTTTGGCTTTCTCTAATTGGTGGGAATACAGTGATGAACAATCAGTGCTTGATCTCAAGGAAATCACAGTTTAGTAGGAGGGGACAAACAAGTAAAATAACGTAAGCCAGTCAACAATCCTGTAAAGAAGACAAAAT... |
Task1_train_15742 | This alteration occurs within gene ALX4 (ALX homeobox 4) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Frontonasal dysplasia with alopecia and genital anomaly | CATGGGTCTTTTCTTTCTTTCTGATCCTTTCTTTGCTGTGAATTCATGCTGGTCGGGGCAGATACAGCTCTCTGGACAAGGGTTGATTGATCCACGGATACTTATTTTTTAGACTTGATGCTCTGCGTTTGGCTTTCTCTAATTGGTGGGAATACAGTGATGAACAATCAGTGCTTGATCTCAAGGAAATCACAGTTTAGTAGGAGGGGACAAACAAGTAAAATAACGTAAGCCAGTCAACAATCCTGTAAAGAAGACAAAATAGGAGTTGGGCACAGTGTCTCATGCCTATAATCCCAGCAGTATGGGAGGCTGAGGTG... | CATGGGTCTTTTCTTTCTTTCTGATCCTTTCTTTGCTGTGAATTCATGCTGGTCGGGGCAGATACAGCTCTCTGGACAAGGGTTGATTGATCCACGGATACTTATTTTTTAGACTTGATGCTCTGCGTTTGGCTTTCTCTAATTGGTGGGAATACAGTGATGAACAATCAGTGCTTGATCTCAAGGAAATCACAGTTTAGTAGGAGGGGACAAACAAGTAAAATAACGTAAGCCAGTCAACAATCCTGTAAAGAAGACAAAATAGGAGTTGGGCACAGTGTCTCATGCCTATAATCCCAGCAGTATGGGAGGCTGAGGTG... |
Task1_train_15743 | The gene ALX4 (ALX homeobox 4) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Parietal foramina 2 | CTGATCCTTTCTTTGCTGTGAATTCATGCTGGTCGGGGCAGATACAGCTCTCTGGACAAGGGTTGATTGATCCACGGATACTTATTTTTTAGACTTGATGCTCTGCGTTTGGCTTTCTCTAATTGGTGGGAATACAGTGATGAACAATCAGTGCTTGATCTCAAGGAAATCACAGTTTAGTAGGAGGGGACAAACAAGTAAAATAACGTAAGCCAGTCAACAATCCTGTAAAGAAGACAAAATAGGAGTTGGGCACAGTGTCTCATGCCTATAATCCCAGCAGTATGGGAGGCTGAGGTGAGGGATTACTTGAGGCCAGG... | CTGATCCTTTCTTTGCTGTGAATTCATGCTGGTCGGGGCAGATACAGCTCTCTGGACAAGGGTTGATTGATCCACGGATACTTATTTTTTAGACTTGATGCTCTGCGTTTGGCTTTCTCTAATTGGTGGGAATACAGTGATGAACAATCAGTGCTTGATCTCAAGGAAATCACAGTTTAGTAGGAGGGGACAAACAAGTAAAATAACGTAAGCCAGTCAACAATCCTGTAAAGAAGACAAAATAGGAGTTGGGCACAGTGTCTCATGCCTATAATCCCAGCAGTATGGGAGGCTGAGGTGAGGGATTACTTGAGGCCAGG... |
Task1_train_15744 | This mutation is located in gene ALX4 (ALX homeobox 4) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Parietal foramina 2 | TTTCTTTGCTGTGAATTCATGCTGGTCGGGGCAGATACAGCTCTCTGGACAAGGGTTGATTGATCCACGGATACTTATTTTTTAGACTTGATGCTCTGCGTTTGGCTTTCTCTAATTGGTGGGAATACAGTGATGAACAATCAGTGCTTGATCTCAAGGAAATCACAGTTTAGTAGGAGGGGACAAACAAGTAAAATAACGTAAGCCAGTCAACAATCCTGTAAAGAAGACAAAATAGGAGTTGGGCACAGTGTCTCATGCCTATAATCCCAGCAGTATGGGAGGCTGAGGTGAGGGATTACTTGAGGCCAGGAGTTTGA... | TTTCTTTGCTGTGAATTCATGCTGGTCGGGGCAGATACAGCTCTCTGGACAAGGGTTGATTGATCCACGGATACTTATTTTTTAGACTTGATGCTCTGCGTTTGGCTTTCTCTAATTGGTGGGAATACAGTGATGAACAATCAGTGCTTGATCTCAAGGAAATCACAGTTTAGTAGGAGGGGACAAACAAGTAAAATAACGTAAGCCAGTCAACAATCCTGTAAAGAAGACAAAATAGGAGTTGGGCACAGTGTCTCATGCCTATAATCCCAGCAGTATGGGAGGCTGAGGTGAGGGATTACTTGAGGCCAGGAGTTTGA... |
Task1_train_15745 | Chromosome 11 houses a mutation in gene SLC35C1 (solute carrier family 35 member C1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Leukocyte adhesion deficiency type II | CCACCTCCATAACAACTTTCATTCATTCATTCCACGACTAGTAATTGGTGGCTAAACACATGCCAGGCACCATGCCAGGCTTTGGGGATACAAGTTTGGAAAAGGTAACCTCAGCTCCTACACTCCTGGAGGGCATGGTGGTGACAGTTACGCTAGCATAGTAAGGGCTGTGATGGGGCATGCATAAAAGGGGCTGTGGGAGCTCTGGGCAAGGGAGGGGACCCGGGGACAGGGCAGTCTAAGCAGGCCTTCTGGAGGAAGTTTAGAAACTGGGTTTAGAGGAAGAAGTAGGGACAGAACATTCTAGATAGAAGGAAGAG... | CCACCTCCATAACAACTTTCATTCATTCATTCCACGACTAGTAATTGGTGGCTAAACACATGCCAGGCACCATGCCAGGCTTTGGGGATACAAGTTTGGAAAAGGTAACCTCAGCTCCTACACTCCTGGAGGGCATGGTGGTGACAGTTACGCTAGCATAGTAAGGGCTGTGATGGGGCATGCATAAAAGGGGCTGTGGGAGCTCTGGGCAAGGGAGGGGACCCGGGGACAGGGCAGTCTAAGCAGGCCTTCTGGAGGAAGTTTAGAAACTGGGTTTAGAGGAAGAAGTAGGGACAGAACATTCTAGATAGAAGGAAGAG... |
Task1_train_15746 | This genomic variant is located on Chromosome 11, within the SLC35C1 (solute carrier family 35 member C1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Leukocyte adhesion deficiency type II | CACGACTAGTAATTGGTGGCTAAACACATGCCAGGCACCATGCCAGGCTTTGGGGATACAAGTTTGGAAAAGGTAACCTCAGCTCCTACACTCCTGGAGGGCATGGTGGTGACAGTTACGCTAGCATAGTAAGGGCTGTGATGGGGCATGCATAAAAGGGGCTGTGGGAGCTCTGGGCAAGGGAGGGGACCCGGGGACAGGGCAGTCTAAGCAGGCCTTCTGGAGGAAGTTTAGAAACTGGGTTTAGAGGAAGAAGTAGGGACAGAACATTCTAGATAGAAGGAAGAGCACGTGCACTTCTTCATGGCTGGGCCACAGCA... | CACGACTAGTAATTGGTGGCTAAACACATGCCAGGCACCATGCCAGGCTTTGGGGATACAAGTTTGGAAAAGGTAACCTCAGCTCCTACACTCCTGGAGGGCATGGTGGTGACAGTTACGCTAGCATAGTAAGGGCTGTGATGGGGCATGCATAAAAGGGGCTGTGGGAGCTCTGGGCAAGGGAGGGGACCCGGGGACAGGGCAGTCTAAGCAGGCCTTCTGGAGGAAGTTTAGAAACTGGGTTTAGAGGAAGAAGTAGGGACAGAACATTCTAGATAGAAGGAAGAGCACGTGCACTTCTTCATGGCTGGGCCACAGCA... |
Task1_train_15747 | The variant affects gene PEX16 (peroxisomal biogenesis factor 16), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Peroxisome biogenesis disorder 8B | GTAATCCAGTTGCTTGAGATGGCCAACCTGCCAGCTGGCCCAGCCGCTCTCCTCTGACAGCTGAGGGGCCCAGGGAGGGAAGTCCCTTGTTTCCAACCCTGGCTCCTCCAGTGGCCTCATTCATGCTCCTGGTCCTGAGTACCGGAGGCTGACAAGTTCTGGCGGTTCCTTCAGCCCCGTCACCCTCTGCATGTTGTTCCCGCACTCACTTCCCAGTGGCCACCTCCCTTTATAAGTCCTGGAGACAACACGTCTCCACGAGCCTGCCTCAGCATCCTGTGCCCACCAAGGCTTGCCCTGCCAGGAACCTGGAGTTCTGT... | GTAATCCAGTTGCTTGAGATGGCCAACCTGCCAGCTGGCCCAGCCGCTCTCCTCTGACAGCTGAGGGGCCCAGGGAGGGAAGTCCCTTGTTTCCAACCCTGGCTCCTCCAGTGGCCTCATTCATGCTCCTGGTCCTGAGTACCGGAGGCTGACAAGTTCTGGCGGTTCCTTCAGCCCCGTCACCCTCTGCATGTTGTTCCCGCACTCACTTCCCAGTGGCCACCTCCCTTTATAAGTCCTGGAGACAACACGTCTCCACGAGCCTGCCTCAGCATCCTGTGCCCACCAAGGCTTGCCCTGCCAGGAACCTGGAGTTCTGT... |
Task1_train_15748 | This alteration occurs within gene PHF21A (PHD finger protein 21A) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | CAAAGCAAGGAGGCAAAATTCAAGTTAACTATTCTTATCCCTTGCTTTTAGAGCTATTGAGAGGCATGTTCTGGGAGTAGCTGAAACCTAAGAGCTTAAAAGATGCTCTGGGCTTAGCAATTAATGTTTAAGTATTTCTGTCCCTGGATACCCTCCCCAGTTGACTGGCAGCTGTCTCCCCCACTTTACATGACAAACATCCTGATAAACTACATCTCTAAAAATTGGGGCTGTTTAAAAGTCTCAGGAAAGGCCCTCCCATCAGCACTCCTAACTGAGAGACCTGATTTGTGTAAGAGCATTTTGACTCAAACTTCAAG... | CAAAGCAAGGAGGCAAAATTCAAGTTAACTATTCTTATCCCTTGCTTTTAGAGCTATTGAGAGGCATGTTCTGGGAGTAGCTGAAACCTAAGAGCTTAAAAGATGCTCTGGGCTTAGCAATTAATGTTTAAGTATTTCTGTCCCTGGATACCCTCCCCAGTTGACTGGCAGCTGTCTCCCCCACTTTACATGACAAACATCCTGATAAACTACATCTCTAAAAATTGGGGCTGTTTAAAAGTCTCAGGAAAGGCCCTCCCATCAGCACTCCTAACTGAGAGACCTGATTTGTGTAAGAGCATTTTGACTCAAACTTCAAG... |
Task1_train_15749 | Here is a genetic alteration in CREB3L1 (cAMP responsive element binding protein 3 like 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Osteogenesis imperfecta type 16 | GTCCAGTCCTCTTCTTGCCCAATCTACTGCTGCCATCGCTCCTGCTTGCCCAGCCTGACCCTATGAGAGAGAGGCCCCAGTCACCTTCTGGGGTTGCTGAGCTAGAGCTTAGTGATCTTCTGGAGTTGCTGAGCTTAAGGCCCTGAACCCTGTGAAGTCAGAGGTCACAGAGGACCTCCCACGAATTCAGCTCCTATGATGTCTATGCCAAGGGCGAGCTTGTAAAGGAGCTGGGCCTCTGTGGTGTCAGATGAGGCAGCACCCAGGAATTGGCTACCCAGATGTCAACTGTCTTTCTGACCCTGCAGAGGGGCTTCTGA... | GTCCAGTCCTCTTCTTGCCCAATCTACTGCTGCCATCGCTCCTGCTTGCCCAGCCTGACCCTATGAGAGAGAGGCCCCAGTCACCTTCTGGGGTTGCTGAGCTAGAGCTTAGTGATCTTCTGGAGTTGCTGAGCTTAAGGCCCTGAACCCTGTGAAGTCAGAGGTCACAGAGGACCTCCCACGAATTCAGCTCCTATGATGTCTATGCCAAGGGCGAGCTTGTAAAGGAGCTGGGCCTCTGTGGTGTCAGATGAGGCAGCACCCAGGAATTGGCTACCCAGATGTCAACTGTCTTTCTGACCCTGCAGAGGGGCTTCTGA... |
Task1_train_15750 | This mutation occurs in ZNF408 (zinc finger protein 408) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Familial exudative vitreoretinopathy | TAGAGTCTTAGTAGCTTTTCAAAATCTGTTTTAAGGTGGATCTTTCAACATGGGATAGGAGGGTGGGGCTTGATTAGTATTGGGTAAGGATTATGACTGAATAGCTTAGGGTTGGTACATACAGCAAGGCTAGAATTTTCAGGCAAGGGACAGTCTCAGACTATGAATTGTCATTCATTGCTTTCTGTTGAAGAGCGACGGGTCTGTTCTTTGGAATAACAATATAGATATTTGCAACTTTTACCTTCCTAAGAGCTTCCTGGAATAGTAAGAAAGAGAGTAAGCTTTGTATGTACACGGTTTCCAGCCTCCCATGTTTC... | TAGAGTCTTAGTAGCTTTTCAAAATCTGTTTTAAGGTGGATCTTTCAACATGGGATAGGAGGGTGGGGCTTGATTAGTATTGGGTAAGGATTATGACTGAATAGCTTAGGGTTGGTACATACAGCAAGGCTAGAATTTTCAGGCAAGGGACAGTCTCAGACTATGAATTGTCATTCATTGCTTTCTGTTGAAGAGCGACGGGTCTGTTCTTTGGAATAACAATATAGATATTTGCAACTTTTACCTTCCTAAGAGCTTCCTGGAATAGTAAGAAAGAGAGTAAGCTTTGTATGTACACGGTTTCCAGCCTCCCATGTTTC... |
Task1_train_15751 | This genomic variant is located on Chromosome 11, within the F2 (coagulation factor II, thrombin) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Thrombophilia due to thrombin defect | CGTCTTCTGTCCTGAAGGCCTGGCTCAGAACAGGCACAGTCAGCCCTGCCCACGTTCCATTGGCCAGAGCAAGTATATGTTCAAGGCCAGGGTCAAGAGGTAAACTACACCTCAGCCTGTAAAATCACAGAGCAAGGGATGTGGATGCAGGCAGGGGTAAAGAATTTGTGCCGATTACCAGTCCACAAACATGGGTTAGTGTTTGTTCTCTAGGCATCCCTGTCGGGCCCATTGCTCATTCCTGGGGTTGGTCTTTTTTTTTTTTCTTTCTAAGATGGAGTCTCACTCCCTTGCCCAGGCTGTTGGAGTGCAGTGGCCCT... | CGTCTTCTGTCCTGAAGGCCTGGCTCAGAACAGGCACAGTCAGCCCTGCCCACGTTCCATTGGCCAGAGCAAGTATATGTTCAAGGCCAGGGTCAAGAGGTAAACTACACCTCAGCCTGTAAAATCACAGAGCAAGGGATGTGGATGCAGGCAGGGGTAAAGAATTTGTGCCGATTACCAGTCCACAAACATGGGTTAGTGTTTGTTCTCTAGGCATCCCTGTCGGGCCCATTGCTCATTCCTGGGGTTGGTCTTTTTTTTTTTTCTTTCTAAGATGGAGTCTCACTCCCTTGCCCAGGCTGTTGGAGTGCAGTGGCCCT... |
Task1_train_15752 | A mutation found in F2 (coagulation factor II, thrombin) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Congenital prothrombin deficiency | CGATTACCAGTCCACAAACATGGGTTAGTGTTTGTTCTCTAGGCATCCCTGTCGGGCCCATTGCTCATTCCTGGGGTTGGTCTTTTTTTTTTTTCTTTCTAAGATGGAGTCTCACTCCCTTGCCCAGGCTGTTGGAGTGCAGTGGCCCTATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTAGGATTACAGGCGTGTGCCACCACTCCTGGCTAATTTTTTTTTATGTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCAAACTCCTGACCTT... | CGATTACCAGTCCACAAACATGGGTTAGTGTTTGTTCTCTAGGCATCCCTGTCGGGCCCATTGCTCATTCCTGGGGTTGGTCTTTTTTTTTTTTCTTTCTAAGATGGAGTCTCACTCCCTTGCCCAGGCTGTTGGAGTGCAGTGGCCCTATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTAGGATTACAGGCGTGTGCCACCACTCCTGGCTAATTTTTTTTTATGTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCAAACTCCTGACCTT... |
Task1_train_15753 | This variant impacts the gene F2 (coagulation factor II, thrombin) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Congenital prothrombin deficiency | GTGTTTGTTCTCTAGGCATCCCTGTCGGGCCCATTGCTCATTCCTGGGGTTGGTCTTTTTTTTTTTTCTTTCTAAGATGGAGTCTCACTCCCTTGCCCAGGCTGTTGGAGTGCAGTGGCCCTATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTAGGATTACAGGCGTGTGCCACCACTCCTGGCTAATTTTTTTTTATGTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCAAACTCCTGACCTTGTGATCCTCCCGCCTCGGCCTCCCAAA... | GTGTTTGTTCTCTAGGCATCCCTGTCGGGCCCATTGCTCATTCCTGGGGTTGGTCTTTTTTTTTTTTCTTTCTAAGATGGAGTCTCACTCCCTTGCCCAGGCTGTTGGAGTGCAGTGGCCCTATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTAGGATTACAGGCGTGTGCCACCACTCCTGGCTAATTTTTTTTTATGTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCAAACTCCTGACCTTGTGATCCTCCCGCCTCGGCCTCCCAAA... |
Task1_train_15754 | Chromosome 11 houses a mutation in gene F2 (coagulation factor II, thrombin). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Congenital prothrombin deficiency | GCAGTACCAGGGGCGCCTGGCGGTGACCACACATGGGCTCCCCTGCCTGGCCTGGGCCAGCGCACAGGCCAAGGCCCTGAGCAAGCACCAGGACTTCAACTCAGCTGTGCAGCTGGTGGAGAACTTCTGCCGCAACCCAGACGGGGATGAGGAGGGCGTGTGGTGCTATGTGGCCGGGAAGCCTGGCGACTTTGGGTACTGCGACCTCAACTATTGTGGTGAGCTGCCTGGGTAGGGGGCCTGAGTTGCAGGGACAAATCCTGGTGGGAATAACAACAGCCGCTTCTGCTTATCGAACGCTTACCTCATTGAGTGCGCTC... | GCAGTACCAGGGGCGCCTGGCGGTGACCACACATGGGCTCCCCTGCCTGGCCTGGGCCAGCGCACAGGCCAAGGCCCTGAGCAAGCACCAGGACTTCAACTCAGCTGTGCAGCTGGTGGAGAACTTCTGCCGCAACCCAGACGGGGATGAGGAGGGCGTGTGGTGCTATGTGGCCGGGAAGCCTGGCGACTTTGGGTACTGCGACCTCAACTATTGTGGTGAGCTGCCTGGGTAGGGGGCCTGAGTTGCAGGGACAAATCCTGGTGGGAATAACAACAGCCGCTTCTGCTTATCGAACGCTTACCTCATTGAGTGCGCTC... |
Task1_train_15755 | A genetic alteration is present in F2 (coagulation factor II, thrombin) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Congenital prothrombin deficiency | ACCCAGACGGGGATGAGGAGGGCGTGTGGTGCTATGTGGCCGGGAAGCCTGGCGACTTTGGGTACTGCGACCTCAACTATTGTGGTGAGCTGCCTGGGTAGGGGGCCTGAGTTGCAGGGACAAATCCTGGTGGGAATAACAACAGCCGCTTCTGCTTATCGAACGCTTACCTCATTGAGTGCGCTCATTACAGCCTTACAGTAACCAGGTGGGGGGTAAGGTCCTGTGCCCATTTCACAGATAAGTACACTGAGGCCCCAGGAGGTTATTGCCTAGTAGCCCAACTGTGCATGCACGCTTAACCTCTGCACCAAATGGCC... | ACCCAGACGGGGATGAGGAGGGCGTGTGGTGCTATGTGGCCGGGAAGCCTGGCGACTTTGGGTACTGCGACCTCAACTATTGTGGTGAGCTGCCTGGGTAGGGGGCCTGAGTTGCAGGGACAAATCCTGGTGGGAATAACAACAGCCGCTTCTGCTTATCGAACGCTTACCTCATTGAGTGCGCTCATTACAGCCTTACAGTAACCAGGTGGGGGGTAAGGTCCTGTGCCCATTTCACAGATAAGTACACTGAGGCCCCAGGAGGTTATTGCCTAGTAGCCCAACTGTGCATGCACGCTTAACCTCTGCACCAAATGGCC... |
Task1_train_15756 | A mutation found in F2 (coagulation factor II, thrombin) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Congenital prothrombin deficiency | CCCAGACGGGGATGAGGAGGGCGTGTGGTGCTATGTGGCCGGGAAGCCTGGCGACTTTGGGTACTGCGACCTCAACTATTGTGGTGAGCTGCCTGGGTAGGGGGCCTGAGTTGCAGGGACAAATCCTGGTGGGAATAACAACAGCCGCTTCTGCTTATCGAACGCTTACCTCATTGAGTGCGCTCATTACAGCCTTACAGTAACCAGGTGGGGGGTAAGGTCCTGTGCCCATTTCACAGATAAGTACACTGAGGCCCCAGGAGGTTATTGCCTAGTAGCCCAACTGTGCATGCACGCTTAACCTCTGCACCAAATGGCCT... | CCCAGACGGGGATGAGGAGGGCGTGTGGTGCTATGTGGCCGGGAAGCCTGGCGACTTTGGGTACTGCGACCTCAACTATTGTGGTGAGCTGCCTGGGTAGGGGGCCTGAGTTGCAGGGACAAATCCTGGTGGGAATAACAACAGCCGCTTCTGCTTATCGAACGCTTACCTCATTGAGTGCGCTCATTACAGCCTTACAGTAACCAGGTGGGGGGTAAGGTCCTGTGCCCATTTCACAGATAAGTACACTGAGGCCCCAGGAGGTTATTGCCTAGTAGCCCAACTGTGCATGCACGCTTAACCTCTGCACCAAATGGCCT... |
Task1_train_15757 | This sequence variant lies in F2 (coagulation factor II, thrombin) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II | GGGCGTGTGGTGCTATGTGGCCGGGAAGCCTGGCGACTTTGGGTACTGCGACCTCAACTATTGTGGTGAGCTGCCTGGGTAGGGGGCCTGAGTTGCAGGGACAAATCCTGGTGGGAATAACAACAGCCGCTTCTGCTTATCGAACGCTTACCTCATTGAGTGCGCTCATTACAGCCTTACAGTAACCAGGTGGGGGGTAAGGTCCTGTGCCCATTTCACAGATAAGTACACTGAGGCCCCAGGAGGTTATTGCCTAGTAGCCCAACTGTGCATGCACGCTTAACCTCTGCACCAAATGGCCTCCAAGGCCCGTAGGGGAA... | GGGCGTGTGGTGCTATGTGGCCGGGAAGCCTGGCGACTTTGGGTACTGCGACCTCAACTATTGTGGTGAGCTGCCTGGGTAGGGGGCCTGAGTTGCAGGGACAAATCCTGGTGGGAATAACAACAGCCGCTTCTGCTTATCGAACGCTTACCTCATTGAGTGCGCTCATTACAGCCTTACAGTAACCAGGTGGGGGGTAAGGTCCTGTGCCCATTTCACAGATAAGTACACTGAGGCCCCAGGAGGTTATTGCCTAGTAGCCCAACTGTGCATGCACGCTTAACCTCTGCACCAAATGGCCTCCAAGGCCCGTAGGGGAA... |
Task1_train_15758 | This sequence change occurs on Chromosome 11, altering F2 (coagulation factor II, thrombin). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Congenital prothrombin deficiency | GCTTGCTCTGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGTGTGTCCTGGAGCCCTGCGCTACCATTCACTCCTGGGGGCAGGTGTGCTGCTGGACCCCCACCCTCAGGCCCTGCCTGCAGGCCTGGGCTTTACAGATGACAACAGCTGAGCATCCAGGATCCCACCAACTCCACACAGCAGCCACATGAGATGGGTTGTTTACTTCTTTTTTTTTGTT... | GCTTGCTCTGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGTGTGTCCTGGAGCCCTGCGCTACCATTCACTCCTGGGGGCAGGTGTGCTGCTGGACCCCCACCCTCAGGCCCTGCCTGCAGGCCTGGGCTTTACAGATGACAACAGCTGAGCATCCAGGATCCCACCAACTCCACACAGCAGCCACATGAGATGGGTTGTTTACTTCTTTTTTTTTGTT... |
Task1_train_15759 | Here is a mutation in F2 (coagulation factor II, thrombin) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Congenital prothrombin deficiency | GGGTTACAGGTGCACGCCACCATGCCCGGCTAATTTTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGACTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGAAAGCTCCACCTCCCGGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTACACTGCC... | GGGTTACAGGTGCACGCCACCATGCCCGGCTAATTTTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGACTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGAAAGCTCCACCTCCCGGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTACACTGCC... |
Task1_train_15760 | This sequence change occurs on Chromosome 11, altering F2 (coagulation factor II, thrombin). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Thrombophilia due to thrombin defect | GTTACAGGTGCACGCCACCATGCCCGGCTAATTTTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGACTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGAAAGCTCCACCTCCCGGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTACACTGCCAC... | GTTACAGGTGCACGCCACCATGCCCGGCTAATTTTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGACTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGAAAGCTCCACCTCCCGGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTACACTGCCAC... |
Task1_train_15761 | Here is a genetic alteration in F2 (coagulation factor II, thrombin) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Congenital prothrombin deficiency | GTTACAGGTGCACGCCACCATGCCCGGCTAATTTTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGACTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGAAAGCTCCACCTCCCGGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTACACTGCCAC... | GTTACAGGTGCACGCCACCATGCCCGGCTAATTTTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGACTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGAAAGCTCCACCTCCCGGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTACACTGCCAC... |
Task1_train_15762 | A genomic change on Chromosome 11 affects F2 (coagulation factor II, thrombin). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Thrombophilia due to thrombin defect | GTTACAGGTGCACGCCACCATGCCCGGCTAATTTTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGACTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGAAAGCTCCACCTCCCGGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTACACTGCCAC... | GTTACAGGTGCACGCCACCATGCCCGGCTAATTTTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGACTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGAAAGCTCCACCTCCCGGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTACACTGCCAC... |
Task1_train_15763 | This sequence change occurs on Chromosome 11, altering F2 (coagulation factor II, thrombin). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Congenital prothrombin deficiency | CACCATGCCCGGCTAATTTTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGACTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGAAAGCTCCACCTCCCGGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTACACTGCCACGCCCAGCTAATTTTT... | CACCATGCCCGGCTAATTTTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGACTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGAAAGCTCCACCTCCCGGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTACACTGCCACGCCCAGCTAATTTTT... |
Task1_train_15764 | A variant on Chromosome 11 in gene LRP4 (LDL receptor related protein 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Sclerosteosis 2 | TTTACTGCAATACAGATACTGGTTATATGGCCTACTCATCAGTAAGTCCTAGGGGATTCTTGGAGCTCCCTCAGGGCACAATGGTAGATGTGAAAGTCTCCAGGTCCCCTGACTTTACCTGTTTTTTTTGTTGTTGTTGTTTGTTTTACATACTAGGCTTCCATATAATCTCTAAACAAATGAAAGTTTGAAACTCTGCTGTAAGTGACAACACTACAAAGTGAACAAGTCAGGATTAAAACTCACTATCCAAAGTGCCAAATCACTCATCCATTTAGTGGTCAGAACACAACCTCACCCATGGGCGACCAGAAGCAAAT... | TTTACTGCAATACAGATACTGGTTATATGGCCTACTCATCAGTAAGTCCTAGGGGATTCTTGGAGCTCCCTCAGGGCACAATGGTAGATGTGAAAGTCTCCAGGTCCCCTGACTTTACCTGTTTTTTTTGTTGTTGTTGTTTGTTTTACATACTAGGCTTCCATATAATCTCTAAACAAATGAAAGTTTGAAACTCTGCTGTAAGTGACAACACTACAAAGTGAACAAGTCAGGATTAAAACTCACTATCCAAAGTGCCAAATCACTCATCCATTTAGTGGTCAGAACACAACCTCACCCATGGGCGACCAGAAGCAAAT... |
Task1_train_15765 | Consider this mutation in LRP4 (LDL receptor related protein 4) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Cenani-Lenz syndactyly syndrome | GTCTCACAGAATTGACAATATAATGTAATATTAGGACAGGCACTTTCTTCTTTGTCACAATCTCTTCCACTGCCTTTTGTATTTTATTTTCTTTTATTTTTGAGACTCGCTCTGTTGCCCAGGCTGGAATGCAGTGGCACGATTTCAGCTCACTGCAACCTCCACCTCCTGGACCCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCACCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCCCAAGTGATCC... | GTCTCACAGAATTGACAATATAATGTAATATTAGGACAGGCACTTTCTTCTTTGTCACAATCTCTTCCACTGCCTTTTGTATTTTATTTTCTTTTATTTTTGAGACTCGCTCTGTTGCCCAGGCTGGAATGCAGTGGCACGATTTCAGCTCACTGCAACCTCCACCTCCTGGACCCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCACCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCCCAAGTGATCC... |
Task1_train_15766 | This variant affects gene LRP4 (LDL receptor related protein 4) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Cenani-Lenz syndactyly syndrome | TAGCTGGGATTACAAGCACCCGCCACCATGCCTGGCTAATTTTTGTATTTTGCAGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTCTCGAATTACTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCTACACCACACTTTGAGGATGTACTCCCAGAATGTCTAGTCCAGGTAGCCTGGGAGCTGTCCCGAGAGGTTGCAAGAAAGTTCGGGAGCCTGAGATACAACTTACCCCTCCATGGGATGCAAGGCAATGGCCCGGGGCTTCTCCAGGTTCTG... | TAGCTGGGATTACAAGCACCCGCCACCATGCCTGGCTAATTTTTGTATTTTGCAGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTCTCGAATTACTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCTACACCACACTTTGAGGATGTACTCCCAGAATGTCTAGTCCAGGTAGCCTGGGAGCTGTCCCGAGAGGTTGCAAGAAAGTTCGGGAGCCTGAGATACAACTTACCCCTCCATGGGATGCAAGGCAATGGCCCGGGGCTTCTCCAGGTTCTG... |
Task1_train_15767 | A mutation in LRP4 (LDL receptor related protein 4), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Cenani-Lenz syndactyly syndrome | TAATTTTTGTATTTTGCAGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTCTCGAATTACTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCTACACCACACTTTGAGGATGTACTCCCAGAATGTCTAGTCCAGGTAGCCTGGGAGCTGTCCCGAGAGGTTGCAAGAAAGTTCGGGAGCCTGAGATACAACTTACCCCTCCATGGGATGCAAGGCAATGGCCCGGGGCTTCTCCAGGTTCTGCCACAGCAACACTTTCCGGTGGGCCCCATCCAGATT... | TAATTTTTGTATTTTGCAGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTCTCGAATTACTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCTACACCACACTTTGAGGATGTACTCCCAGAATGTCTAGTCCAGGTAGCCTGGGAGCTGTCCCGAGAGGTTGCAAGAAAGTTCGGGAGCCTGAGATACAACTTACCCCTCCATGGGATGCAAGGCAATGGCCCGGGGCTTCTCCAGGTTCTGCCACAGCAACACTTTCCGGTGGGCCCCATCCAGATT... |
Task1_train_15768 | This variant affects gene LRP4 (LDL receptor related protein 4) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Cenani-Lenz syndactyly syndrome | GGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCGGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGA... | GGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCGGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGA... |
Task1_train_15769 | This mutation occurs in DDB2 (damage specific DNA binding protein 2) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Xeroderma pigmentosum, group E | CGCAGCATGTGTGCCCAGGCCTGGTTCCTCACGGCCAGGCCCATCATCACTCACTGGCTTTTTCCTTCCTCGTGTTAGATTGGAGCTGGAGGGAGCATCACTGGGCTGAAGTTTAACCCTCTCAATACCAACCAGTTTTACGCCTCCTCAATGGAGGGAACAACTAGGCTGCAAGACTTTAAAGGCAACATTCTACGAGTTTTTGCCAGCTCAGACACCATCAAGTGAGTAGTTTAACTAGCAGGGGAAAGGGCTTCTAAGCTTAGGTGTAGTTCCGGCAAGAGCATCCAGATCCCATTTCCTTAACCCAACCTGGCCCA... | CGCAGCATGTGTGCCCAGGCCTGGTTCCTCACGGCCAGGCCCATCATCACTCACTGGCTTTTTCCTTCCTCGTGTTAGATTGGAGCTGGAGGGAGCATCACTGGGCTGAAGTTTAACCCTCTCAATACCAACCAGTTTTACGCCTCCTCAATGGAGGGAACAACTAGGCTGCAAGACTTTAAAGGCAACATTCTACGAGTTTTTGCCAGCTCAGACACCATCAAGTGAGTAGTTTAACTAGCAGGGGAAAGGGCTTCTAAGCTTAGGTGTAGTTCCGGCAAGAGCATCCAGATCCCATTTCCTTAACCCAACCTGGCCCA... |
Task1_train_15770 | Here is a mutation in DDB2 (damage specific DNA binding protein 2) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | GAGGGAGCATCACTGGGCTGAAGTTTAACCCTCTCAATACCAACCAGTTTTACGCCTCCTCAATGGAGGGAACAACTAGGCTGCAAGACTTTAAAGGCAACATTCTACGAGTTTTTGCCAGCTCAGACACCATCAAGTGAGTAGTTTAACTAGCAGGGGAAAGGGCTTCTAAGCTTAGGTGTAGTTCCGGCAAGAGCATCCAGATCCCATTTCCTTAACCCAACCTGGCCCAGGGAAGAAAGGAAAGATGTCAGCCACTTTCCGCCCTTCTTTCTCTTTCTCAAACTGCTCCTTGGCTGCCCTCACTTTGGTCCAGGTGG... | GAGGGAGCATCACTGGGCTGAAGTTTAACCCTCTCAATACCAACCAGTTTTACGCCTCCTCAATGGAGGGAACAACTAGGCTGCAAGACTTTAAAGGCAACATTCTACGAGTTTTTGCCAGCTCAGACACCATCAAGTGAGTAGTTTAACTAGCAGGGGAAAGGGCTTCTAAGCTTAGGTGTAGTTCCGGCAAGAGCATCCAGATCCCATTTCCTTAACCCAACCTGGCCCAGGGAAGAAAGGAAAGATGTCAGCCACTTTCCGCCCTTCTTTCTCTTTCTCAAACTGCTCCTTGGCTGCCCTCACTTTGGTCCAGGTGG... |
Task1_train_15771 | Given this variant in gene DDB2 (damage specific DNA binding protein 2) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Xeroderma pigmentosum, group E | CTAGAGAATGGAGCAACAGCTCAGAACTTGAGACTGAATGCCCTGCACTCACTGTGGTGTAATGACCTGACCTGTTCCTGGGTGGAAGCTTATATGGATGGAATCTTTTCCATAAAGTGCTCTGGACTTCCCAAGAGAAAGTGGCTGGAGAAATTACAGAATGCGGCCGGGTGCAGTGGCTCATGCTTGAAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAACAATACAAAAAATTAGCTGGGCGTGGTGGTAGG... | CTAGAGAATGGAGCAACAGCTCAGAACTTGAGACTGAATGCCCTGCACTCACTGTGGTGTAATGACCTGACCTGTTCCTGGGTGGAAGCTTATATGGATGGAATCTTTTCCATAAAGTGCTCTGGACTTCCCAAGAGAAAGTGGCTGGAGAAATTACAGAATGCGGCCGGGTGCAGTGGCTCATGCTTGAAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAACAATACAAAAAATTAGCTGGGCGTGGTGGTAGG... |
Task1_train_15772 | A variant has been detected on Chromosome 11 in NR1H3 (nuclear receptor subfamily 1 group H member 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Multiple sclerosis | GGTCTCAAACTCTTGAGCTCAGGCAATCCGTCTGCCTCGGCCTCCTAAAGTGCTGGGATTATAGGGATAAGCCACCGCATCCAGCCTTTTTTCTTTTTCTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTTACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGAATTACAGGAGTGCACCACCACGCCCAGCTAATTTTTGTATTTTCAGTGAGACAGGGTTTTGCCATGTCGGCCAGGCTGGTCTCAAACTCC... | GGTCTCAAACTCTTGAGCTCAGGCAATCCGTCTGCCTCGGCCTCCTAAAGTGCTGGGATTATAGGGATAAGCCACCGCATCCAGCCTTTTTTCTTTTTCTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTTACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGAATTACAGGAGTGCACCACCACGCCCAGCTAATTTTTGTATTTTCAGTGAGACAGGGTTTTGCCATGTCGGCCAGGCTGGTCTCAAACTCC... |
Task1_train_15773 | This mutation is located in gene MADD (MAP kinase activating death domain) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Deeah syndrome | TGATCGTAGGGGCCAGGTAACCAAGAAGAGATTGACTTTTGTCTTAATATCTGGGATAGCCATAAAATCTGCAGTTGTTCCCTTCTCCGATTTCCATGTTGCTTTGCATAGCTCATCTTCTCCTGTTATTTTACCCTGATGGGAGCATCGAAGCCAGTAGGGAAAAAACAAAATCAGGTGGATTGAAAGCAAAACCCTGCTCTTAACTAACATCTTCTTGATGTCGAGCAAATATACTCTTTATACCTCAGTTTTCTTATTTTGTAAAAAGAAAAAGTACATTATAAGCTACTCCTCTATGTATACTTTTTTGGTAATTT... | TGATCGTAGGGGCCAGGTAACCAAGAAGAGATTGACTTTTGTCTTAATATCTGGGATAGCCATAAAATCTGCAGTTGTTCCCTTCTCCGATTTCCATGTTGCTTTGCATAGCTCATCTTCTCCTGTTATTTTACCCTGATGGGAGCATCGAAGCCAGTAGGGAAAAAACAAAATCAGGTGGATTGAAAGCAAAACCCTGCTCTTAACTAACATCTTCTTGATGTCGAGCAAATATACTCTTTATACCTCAGTTTTCTTATTTTGTAAAAAGAAAAAGTACATTATAAGCTACTCCTCTATGTATACTTTTTTGGTAATTT... |
Task1_train_15774 | Chromosome 11 houses a mutation in gene MADD (MAP kinase activating death domain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Deeah syndrome | GCATCGAAGCCAGTAGGGAAAAAACAAAATCAGGTGGATTGAAAGCAAAACCCTGCTCTTAACTAACATCTTCTTGATGTCGAGCAAATATACTCTTTATACCTCAGTTTTCTTATTTTGTAAAAAGAAAAAGTACATTATAAGCTACTCCTCTATGTATACTTTTTTGGTAATTTATTAGTTAATTCACTTTAAAAGATGTTAATCATCTTAAGGTGCCAGTGATAATTTTATTGTCAAAATCTCCCCTTCGTTTCAGAATAGATGCCTTCATGACAGTGTAGACTTCACTTAGGTTACCAGCTCCATGCGGCAGGCAG... | GCATCGAAGCCAGTAGGGAAAAAACAAAATCAGGTGGATTGAAAGCAAAACCCTGCTCTTAACTAACATCTTCTTGATGTCGAGCAAATATACTCTTTATACCTCAGTTTTCTTATTTTGTAAAAAGAAAAAGTACATTATAAGCTACTCCTCTATGTATACTTTTTTGGTAATTTATTAGTTAATTCACTTTAAAAGATGTTAATCATCTTAAGGTGCCAGTGATAATTTTATTGTCAAAATCTCCCCTTCGTTTCAGAATAGATGCCTTCATGACAGTGTAGACTTCACTTAGGTTACCAGCTCCATGCGGCAGGCAG... |
Task1_train_15775 | The gene MADD (MAP kinase activating death domain) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia | GTGTTAACTTCTACCGCTCCTTCCAAAAGCGAATCTCTAAGGAGAAGGGGGAAGGTGGGGCAGGGTCCCGTGGGAAGGAAGGAACCCATGCCACCTGTGCCTCAGAAGAGGGTGGCACTGAGAGCTCAGAGAGTGGCTCATCCCTGCAGCCTCTCAGTGCTGACTCTACCCCTGATGTGAACCAGTCTCCTCGGGGCAAACGCCGGGCCAAGGCGGGGAGCCGCTCCCGCAACAGTACTCTCACGTCCCTGTGCGTGCTCAGCCACTACCCTTTCTTCTCCACCTTCCGAGAGTGTTTGTATACTCTCAAGCGCCTGGTG... | GTGTTAACTTCTACCGCTCCTTCCAAAAGCGAATCTCTAAGGAGAAGGGGGAAGGTGGGGCAGGGTCCCGTGGGAAGGAAGGAACCCATGCCACCTGTGCCTCAGAAGAGGGTGGCACTGAGAGCTCAGAGAGTGGCTCATCCCTGCAGCCTCTCAGTGCTGACTCTACCCCTGATGTGAACCAGTCTCCTCGGGGCAAACGCCGGGCCAAGGCGGGGAGCCGCTCCCGCAACAGTACTCTCACGTCCCTGTGCGTGCTCAGCCACTACCCTTTCTTCTCCACCTTCCGAGAGTGTTTGTATACTCTCAAGCGCCTGGTG... |
Task1_train_15776 | This variant affects gene MYBPC3 (myosin binding protein C3) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Hypertrophic cardiomyopathy | GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATA... | GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATA... |
Task1_train_15777 | Here’s a variant in MYBPC3 (myosin binding protein C3) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Cardiomyopathy | GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATA... | GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATA... |
Task1_train_15778 | Given this variant in gene MYBPC3 (myosin binding protein C3) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Left ventricular noncompaction 10 | GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATA... | GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATA... |
Task1_train_15779 | A variant was discovered in gene MYBPC3 (myosin binding protein C3), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hypertrophic cardiomyopathy 4 | GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATA... | GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATA... |
Task1_train_15780 | A mutation on Chromosome 11 affecting MYBPC3 (myosin binding protein C3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; MYBPC3-related disorder | GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATA... | GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATA... |
Task1_train_15781 | Assess the clinical impact of this variant on gene MYBPC3 (myosin binding protein C3), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Cardiovascular phenotype | GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATA... | GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATA... |
Task1_train_15782 | This sequence change occurs on Chromosome 11, altering MYBPC3 (myosin binding protein C3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hypertrophic cardiomyopathy 1 | GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATA... | GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATA... |
Task1_train_15783 | This mutation is located in gene MYBPC3 (myosin binding protein C3) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hypertrophic cardiomyopathy 4 | GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATA... | GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATA... |
Task1_train_15784 | This alteration occurs within gene MYBPC3 (myosin binding protein C3) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Left ventricular noncompaction 10 | GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATA... | GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATA... |
Task1_train_15785 | A sequence alteration has been identified in MYBPC3 (myosin binding protein C3) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Hypertrophic cardiomyopathy 4 | AAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCC... | AAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCC... |
Task1_train_15786 | The gene MYBPC3 (myosin binding protein C3), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hypertrophic cardiomyopathy | GAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCT... | GAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCT... |
Task1_train_15787 | This mutation is located in gene MYBPC3 (myosin binding protein C3) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Primary familial hypertrophic cardiomyopathy | CCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCG... | CCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCG... |
Task1_train_15788 | Here is a variant affecting MYBPC3 (myosin binding protein C3) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hypertrophic cardiomyopathy | CCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCG... | CCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCG... |
Task1_train_15789 | A genetic alteration is present in MYBPC3 (myosin binding protein C3) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Cardiomyopathy | CCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCG... | CCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCG... |
Task1_train_15790 | An alteration has been detected in MYBPC3 (myosin binding protein C3) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hypertrophic cardiomyopathy 4 | CCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCG... | CCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCG... |
Task1_train_15791 | Assess the clinical impact of this variant on gene MYBPC3 (myosin binding protein C3), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Cardiovascular phenotype | CCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCG... | CCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCG... |
Task1_train_15792 | A genomic change on Chromosome 11 affects MYBPC3 (myosin binding protein C3). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hypertrophic cardiomyopathy 4 | ACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCC... | ACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCC... |
Task1_train_15793 | This gene mutation involves PSMC3 (proteasome 26S subunit, ATPase 3) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Atrial septal defect, ostium secundum type | GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGT... | GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGT... |
Task1_train_15794 | Gene PSMC3 (proteasome 26S subunit, ATPase 3), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Polymicrogyria | GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGT... | GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGT... |
Task1_train_15795 | This mutation occurs in PSMC3 (proteasome 26S subunit, ATPase 3) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Failure to thrive | GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGT... | GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGT... |
Task1_train_15796 | Given a variant located on Chromosome 11 and affecting PSMC3 (proteasome 26S subunit, ATPase 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Developmental dysplasia of the hip | GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGT... | GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGT... |
Task1_train_15797 | Located on Chromosome 11, this mutation impacts PSMC3 (proteasome 26S subunit, ATPase 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Patent foramen ovale | GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGT... | GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGT... |
Task1_train_15798 | With a mutation on Chromosome 11 in gene PSMC3 (proteasome 26S subunit, ATPase 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Microcephaly | GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGT... | GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGT... |
Task1_train_15799 | Given a variant located on Chromosome 11 and affecting PSMC3 (proteasome 26S subunit, ATPase 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Microretrognathia | GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGT... | GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGT... |
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