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_30600 | A variant has been detected on Chromosome X in GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Fabry disease | GTAAGTGCCAGTGGTGTGGATCATAGCTTGCTACAGCTTTGAGCTTGCAGGCTCAAGTGGTCCACCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAAT... | GTAAGTGCCAGTGGTGTGGATCATAGCTTGCTACAGCTTTGAGCTTGCAGGCTCAAGTGGTCCACCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAAT... |
Task1_train_30601 | A variant was discovered on Chromosome X, affecting GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Fabry disease | CAGTGGTGTGGATCATAGCTTGCTACAGCTTTGAGCTTGCAGGCTCAAGTGGTCCACCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATC... | CAGTGGTGTGGATCATAGCTTGCTACAGCTTTGAGCTTGCAGGCTCAAGTGGTCCACCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATC... |
Task1_train_30602 | With a mutation on Chromosome X in gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Fabry disease | CAGTGGTGTGGATCATAGCTTGCTACAGCTTTGAGCTTGCAGGCTCAAGTGGTCCACCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATC... | CAGTGGTGTGGATCATAGCTTGCTACAGCTTTGAGCTTGCAGGCTCAAGTGGTCCACCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATC... |
Task1_train_30603 | A variant on Chromosome X in gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Fabry disease | AGCTTGCTACAGCTTTGAGCTTGCAGGCTCAAGTGGTCCACCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTT... | AGCTTGCTACAGCTTTGAGCTTGCAGGCTCAAGTGGTCCACCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTT... |
Task1_train_30604 | A variant was discovered in gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cardiovascular phenotype | AGCTTGCTACAGCTTTGAGCTTGCAGGCTCAAGTGGTCCACCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTT... | AGCTTGCTACAGCTTTGAGCTTGCAGGCTCAAGTGGTCCACCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTT... |
Task1_train_30605 | Here’s a variant in RPL36A-HNRNPH2, GLA (RPL36A-HNRNPH2 readthrough| galactosidase alpha) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Fabry disease | TTGAGCTTGCAGGCTCAAGTGGTCCACCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTG... | TTGAGCTTGCAGGCTCAAGTGGTCCACCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTG... |
Task1_train_30606 | Located on Chromosome X, this mutation impacts GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Fabry disease | AGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTAC... | AGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTAC... |
Task1_train_30607 | Chromosome X houses a mutation in gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Cardiovascular phenotype | AGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTAC... | AGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTAC... |
Task1_train_30608 | This gene mutation involves GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Fabry disease | AGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTAC... | AGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTAC... |
Task1_train_30609 | A sequence alteration has been identified in GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Primary familial hypertrophic cardiomyopathy | AGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTAC... | AGCCTCCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTAC... |
Task1_train_30610 | Gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | CCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCT... | CCTGAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCT... |
Task1_train_30611 | The variant affects gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Fabry disease | GAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAG... | GAGTAGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAG... |
Task1_train_30612 | This mutation is located in gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Fabry disease | AGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCA... | AGCTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCA... |
Task1_train_30613 | This mutation occurs in GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Fabry disease | CTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCACT... | CTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCACT... |
Task1_train_30614 | The following genetic variant occurs in GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Fabry disease, cardiac variant | CTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCACT... | CTGGGACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCACT... |
Task1_train_30615 | This variant impacts the gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Fabry disease | GACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCACTGCAG... | GACTATAGGTGCCTGTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCACTGCAG... |
Task1_train_30616 | Gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Fabry disease | GTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCACTGCAGCCTCTGCCTCCCAG... | GTTACCATACCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCACTGCAGCCTCTGCCTCCCAG... |
Task1_train_30617 | A variant on Chromosome X in gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Fabry disease | CCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTG... | CCTGGCTAATTTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTG... |
Task1_train_30618 | A sequence alteration has been identified in GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Fabry disease | TTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGC... | TTTAGTTTTTGTGTTGGGTGTCTCTCTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGC... |
Task1_train_30619 | A mutation in GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Fabry disease | CTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATT... | CTTTGTTACTCAGCTAGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATT... |
Task1_train_30620 | The gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Fabry disease | AGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCTGCCAC... | AGTCTGGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCTGCCAC... |
Task1_train_30621 | A variant was discovered on Chromosome X, affecting GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Fabry disease | GGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCTGCCACCTGCC... | GGAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCTGCCACCTGCC... |
Task1_train_30622 | Assess the clinical impact of this variant on gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Fabry disease | GAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCTGCCACCTGCCT... | GAACTCCTGGCCTTCAGTGAAACTCCTATCTCAGCATCCCAAGATGTTGGGATTACAGGTGTGAGCCACCAGGTCTGGCCAAACTCCCCGGTGGAAGAATCTTAAGAGACAAAATATCCATTCTTTAAAATGCCTCTTAACAGTTCCAAATTATACATCTTTTTTTTTTTCTTTTTTTGAGATGGAGTGTTGCTCGTTACCTAGGCTGGAGTGCAATTGGTACAACCTCAGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCTGCCACCTGCCT... |
Task1_train_30623 | The gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Fabry disease | ACAACCTCAGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCTGCCACCTGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAG... | ACAACCTCAGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCTGCCACCTGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAG... |
Task1_train_30624 | A genetic alteration is present in GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Fabry disease | CCTCAGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCTGCCACCTGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAA... | CCTCAGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCTGCCACCTGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAA... |
Task1_train_30625 | With a mutation on Chromosome X in gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Fabry disease | CTCAGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCTGCCACCTGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAAT... | CTCAGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCTGCCACCTGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAAT... |
Task1_train_30626 | The gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Fabry disease | TCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCTGCCACCTGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAAC... | TCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCTGCCACCTGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAAC... |
Task1_train_30627 | Located on Chromosome X, this mutation impacts GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | ACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCTGCCACCTGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAA... | ACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCTGCCACCTGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAA... |
Task1_train_30628 | This alteration in GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Fabry disease | GCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCTGCCACCTGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGG... | GCCTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCTGCCACCTGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGG... |
Task1_train_30629 | A variant on Chromosome X in gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Fabry disease | GCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCTGCCACCTGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTA... | GCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCTGCCACCTGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTA... |
Task1_train_30630 | Consider a variant on Chromosome X in gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough). Determine its clinical classification and disease relevance. | Pathogenic; Cardiovascular phenotype | GCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCTGCCACCTGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTA... | GCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCTGCCACCTGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTA... |
Task1_train_30631 | Mutation context: Chromosome X, Gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Fabry disease | GCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTATCTGGATGAGTAAATATGGGTTTAATAGTTTTATTCCTAAAGTTTAAACTTCGGAAAATTTTATTCAAGG... | GCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTATCTGGATGAGTAAATATGGGTTTAATAGTTTTATTCCTAAAGTTTAAACTTCGGAAAATTTTATTCAAGG... |
Task1_train_30632 | This alteration occurs within gene RPL36A-HNRNPH2, GLA (RPL36A-HNRNPH2 readthrough| galactosidase alpha) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | GCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTATCTGGATGAGTAAATATGGGTTTAATAGTTTTATTCCTAAAGTTTAAACTTCGGAAAATTTTATTCAAGG... | GCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTATCTGGATGAGTAAATATGGGTTTAATAGTTTTATTCCTAAAGTTTAAACTTCGGAAAATTTTATTCAAGG... |
Task1_train_30633 | A variant was discovered in gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Fabry disease | AGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTATCTGGATGAGTAAATATGGGTTTAATAGTTTTATTCCTAAAGTTTAAACTTCGGAAAATTTTATTCAAGGAAATAGAACTTTTTTTTTTGAGATGG... | AGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTATCTGGATGAGTAAATATGGGTTTAATAGTTTTATTCCTAAAGTTTAAACTTCGGAAAATTTTATTCAAGGAAATAGAACTTTTTTTTTTGAGATGG... |
Task1_train_30634 | Here is a variant affecting GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Fabry disease | GTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTATCTGGATGAGTAAATATGGGTTTAATAGTTTTATTCCTAAAGTTTAAACTTCGGAAAATTTTATTCAAGGAAATAGAACTTTTTTTTTTGAGATGGAGTCTTGCT... | GTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTATCTGGATGAGTAAATATGGGTTTAATAGTTTTATTCCTAAAGTTTAAACTTCGGAAAATTTTATTCAAGGAAATAGAACTTTTTTTTTTGAGATGGAGTCTTGCT... |
Task1_train_30635 | A variant on Chromosome X in gene RPL36A-HNRNPH2, GLA (RPL36A-HNRNPH2 readthrough| galactosidase alpha) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | TTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTATCTGGATGAGTAAATATGGGTTTAATAGTTTTATTCCTAAAGTTTAAACTTCGGAAAATTTTATTCAAGGAAATAGAACTTTTTTTTTTGAGATGGAGTCTTGCTC... | TTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTATCTGGATGAGTAAATATGGGTTTAATAGTTTTATTCCTAAAGTTTAAACTTCGGAAAATTTTATTCAAGGAAATAGAACTTTTTTTTTTGAGATGGAGTCTTGCTC... |
Task1_train_30636 | This variant impacts the gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Fabry disease | TCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTATCTGGATGAGTAAATATGGGTTTAATAGTTTTATTCCTAAAGTTTAAACTTCGGAAAATTTTATTCAAGGAAATAGAACTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGT... | TCTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTATCTGGATGAGTAAATATGGGTTTAATAGTTTTATTCCTAAAGTTTAAACTTCGGAAAATTTTATTCAAGGAAATAGAACTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGT... |
Task1_train_30637 | Consider this mutation in GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Fabry disease | CTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTATCTGGATGAGTAAATATGGGTTTAATAGTTTTATTCCTAAAGTTTAAACTTCGGAAAATTTTATTCAAGGAAATAGAACTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTG... | CTCCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTATCTGGATGAGTAAATATGGGTTTAATAGTTTTATTCCTAAAGTTTAAACTTCGGAAAATTTTATTCAAGGAAATAGAACTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTG... |
Task1_train_30638 | This genomic variant is located on Chromosome X, within the GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hypertrophic cardiomyopathy | CCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTATCTGGATGAGTAAATATGGGTTTAATAGTTTTATTCCTAAAGTTTAAACTTCGGAAAATTTTATTCAAGGAAATAGAACTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGC... | CCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTATCTGGATGAGTAAATATGGGTTTAATAGTTTTATTCCTAAAGTTTAAACTTCGGAAAATTTTATTCAAGGAAATAGAACTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGC... |
Task1_train_30639 | The variant affects gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Fabry disease | CCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTATCTGGATGAGTAAATATGGGTTTAATAGTTTTATTCCTAAAGTTTAAACTTCGGAAAATTTTATTCAAGGAAATAGAACTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGC... | CCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTATCTGGATGAGTAAATATGGGTTTAATAGTTTTATTCCTAAAGTTTAAACTTCGGAAAATTTTATTCAAGGAAATAGAACTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGC... |
Task1_train_30640 | Gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Cardiomyopathy | CCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTATCTGGATGAGTAAATATGGGTTTAATAGTTTTATTCCTAAAGTTTAAACTTCGGAAAATTTTATTCAAGGAAATAGAACTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGC... | CCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTATCTGGATGAGTAAATATGGGTTTAATAGTTTTATTCCTAAAGTTTAAACTTCGGAAAATTTTATTCAAGGAAATAGAACTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGC... |
Task1_train_30641 | The gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Fabry disease | CCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTATCTGGATGAGTAAATATGGGTTTAATAGTTTTATTCCTAAAGTTTAAACTTCGGAAAATTTTATTCAAGGAAATAGAACTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGC... | CCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTATCTGGATGAGTAAATATGGGTTTAATAGTTTTATTCCTAAAGTTTAAACTTCGGAAAATTTTATTCAAGGAAATAGAACTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGC... |
Task1_train_30642 | A variant found in Chromosome X affects GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Cardiovascular phenotype | CCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTATCTGGATGAGTAAATATGGGTTTAATAGTTTTATTCCTAAAGTTTAAACTTCGGAAAATTTTATTCAAGGAAATAGAACTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGC... | CCATCTCCTGACCTCGTGATCCGCCCGACTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGTGCCTGGCCTATACATCCTTCTTAATACATTTCAGTCTTAATGATGTTTAGCTCTTGGTAGTTAAATATGCTACACATTTTGATAATTGGGAGAGAATCTCAACAAGGGGGGTGGGTATCTGGATGAGTAAATATGGGTTTAATAGTTTTATTCCTAAAGTTTAAACTTCGGAAAATTTTATTCAAGGAAATAGAACTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGC... |
Task1_train_30643 | A mutation found in GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | TATGGAGAAACCACTTTCCACAGCATCCTGCTCTAAGTACTCTCACATAAAGCCTCCTCCCAGGAACTTTACCTGTATTTACCTTGAATGTCAAAATAGGAAACAAGCCTACCGCAGGGTCTTGAACAAGGAGGGCTCAAGTTTTTACCATATCTGGGTCATTCCAACCCCCTGGTCCAGCAACATCAACAATTCTCTCCTGGTTAAAAGATGTCCAGTCCAAGATACTCTTTATACTTTTCCAGGAATCATCAATGTCAGCAAAATTTCGCCAGTGATTGCAGTACTGTCGGATTTCTGTATAATTGGGCTGTGAAAAC... | TATGGAGAAACCACTTTCCACAGCATCCTGCTCTAAGTACTCTCACATAAAGCCTCCTCCCAGGAACTTTACCTGTATTTACCTTGAATGTCAAAATAGGAAACAAGCCTACCGCAGGGTCTTGAACAAGGAGGGCTCAAGTTTTTACCATATCTGGGTCATTCCAACCCCCTGGTCCAGCAACATCAACAATTCTCTCCTGGTTAAAAGATGTCCAGTCCAAGATACTCTTTATACTTTTCCAGGAATCATCAATGTCAGCAAAATTTCGCCAGTGATTGCAGTACTGTCGGATTTCTGTATAATTGGGCTGTGAAAAC... |
Task1_train_30644 | Here is a variant affecting GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Fabry disease | TTTCCACAGCATCCTGCTCTAAGTACTCTCACATAAAGCCTCCTCCCAGGAACTTTACCTGTATTTACCTTGAATGTCAAAATAGGAAACAAGCCTACCGCAGGGTCTTGAACAAGGAGGGCTCAAGTTTTTACCATATCTGGGTCATTCCAACCCCCTGGTCCAGCAACATCAACAATTCTCTCCTGGTTAAAAGATGTCCAGTCCAAGATACTCTTTATACTTTTCCAGGAATCATCAATGTCAGCAAAATTTCGCCAGTGATTGCAGTACTGTCGGATTTCTGTATAATTGGGCTGTGAAAACAGATATGACTCTTC... | TTTCCACAGCATCCTGCTCTAAGTACTCTCACATAAAGCCTCCTCCCAGGAACTTTACCTGTATTTACCTTGAATGTCAAAATAGGAAACAAGCCTACCGCAGGGTCTTGAACAAGGAGGGCTCAAGTTTTTACCATATCTGGGTCATTCCAACCCCCTGGTCCAGCAACATCAACAATTCTCTCCTGGTTAAAAGATGTCCAGTCCAAGATACTCTTTATACTTTTCCAGGAATCATCAATGTCAGCAAAATTTCGCCAGTGATTGCAGTACTGTCGGATTTCTGTATAATTGGGCTGTGAAAACAGATATGACTCTTC... |
Task1_train_30645 | Given this variant in gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Fabry disease | CAGGAACTTTACCTGTATTTACCTTGAATGTCAAAATAGGAAACAAGCCTACCGCAGGGTCTTGAACAAGGAGGGCTCAAGTTTTTACCATATCTGGGTCATTCCAACCCCCTGGTCCAGCAACATCAACAATTCTCTCCTGGTTAAAAGATGTCCAGTCCAAGATACTCTTTATACTTTTCCAGGAATCATCAATGTCAGCAAAATTTCGCCAGTGATTGCAGTACTGTCGGATTTCTGTATAATTGGGCTGTGAAAACAGATATGACTCTTCTGTTTACTTTCTACTAACATCCTTGTGAGATGAAAACAGTTTAAAG... | CAGGAACTTTACCTGTATTTACCTTGAATGTCAAAATAGGAAACAAGCCTACCGCAGGGTCTTGAACAAGGAGGGCTCAAGTTTTTACCATATCTGGGTCATTCCAACCCCCTGGTCCAGCAACATCAACAATTCTCTCCTGGTTAAAAGATGTCCAGTCCAAGATACTCTTTATACTTTTCCAGGAATCATCAATGTCAGCAAAATTTCGCCAGTGATTGCAGTACTGTCGGATTTCTGTATAATTGGGCTGTGAAAACAGATATGACTCTTCTGTTTACTTTCTACTAACATCCTTGTGAGATGAAAACAGTTTAAAG... |
Task1_train_30646 | A variant found in Chromosome X affects GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | CTGTATTTACCTTGAATGTCAAAATAGGAAACAAGCCTACCGCAGGGTCTTGAACAAGGAGGGCTCAAGTTTTTACCATATCTGGGTCATTCCAACCCCCTGGTCCAGCAACATCAACAATTCTCTCCTGGTTAAAAGATGTCCAGTCCAAGATACTCTTTATACTTTTCCAGGAATCATCAATGTCAGCAAAATTTCGCCAGTGATTGCAGTACTGTCGGATTTCTGTATAATTGGGCTGTGAAAACAGATATGACTCTTCTGTTTACTTTCTACTAACATCCTTGTGAGATGAAAACAGTTTAAAGGAGGCACTTGTA... | CTGTATTTACCTTGAATGTCAAAATAGGAAACAAGCCTACCGCAGGGTCTTGAACAAGGAGGGCTCAAGTTTTTACCATATCTGGGTCATTCCAACCCCCTGGTCCAGCAACATCAACAATTCTCTCCTGGTTAAAAGATGTCCAGTCCAAGATACTCTTTATACTTTTCCAGGAATCATCAATGTCAGCAAAATTTCGCCAGTGATTGCAGTACTGTCGGATTTCTGTATAATTGGGCTGTGAAAACAGATATGACTCTTCTGTTTACTTTCTACTAACATCCTTGTGAGATGAAAACAGTTTAAAGGAGGCACTTGTA... |
Task1_train_30647 | Consider a variant on Chromosome X in gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough). Determine its clinical classification and disease relevance. | Pathogenic; Fabry disease | GCAGGTGGGATATCAGGTTTAAGATGTTGAGAAAAAAGACTATTTTGCAGAGATAATGAGGGAATAATAGGGATTCATTCCATAAATAACTATTCAACACTTAACCATATGCGAGAGATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTC... | GCAGGTGGGATATCAGGTTTAAGATGTTGAGAAAAAAGACTATTTTGCAGAGATAATGAGGGAATAATAGGGATTCATTCCATAAATAACTATTCAACACTTAACCATATGCGAGAGATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTC... |
Task1_train_30648 | This sequence variant lies in GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Cardiovascular phenotype | CAGGTGGGATATCAGGTTTAAGATGTTGAGAAAAAAGACTATTTTGCAGAGATAATGAGGGAATAATAGGGATTCATTCCATAAATAACTATTCAACACTTAACCATATGCGAGAGATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCT... | CAGGTGGGATATCAGGTTTAAGATGTTGAGAAAAAAGACTATTTTGCAGAGATAATGAGGGAATAATAGGGATTCATTCCATAAATAACTATTCAACACTTAACCATATGCGAGAGATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCT... |
Task1_train_30649 | A variant on Chromosome X in gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Fabry disease | CAGGTGGGATATCAGGTTTAAGATGTTGAGAAAAAAGACTATTTTGCAGAGATAATGAGGGAATAATAGGGATTCATTCCATAAATAACTATTCAACACTTAACCATATGCGAGAGATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCT... | CAGGTGGGATATCAGGTTTAAGATGTTGAGAAAAAAGACTATTTTGCAGAGATAATGAGGGAATAATAGGGATTCATTCCATAAATAACTATTCAACACTTAACCATATGCGAGAGATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCT... |
Task1_train_30650 | Given a variant located on Chromosome X and affecting GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Fabry disease | GAGAAAAAAGACTATTTTGCAGAGATAATGAGGGAATAATAGGGATTCATTCCATAAATAACTATTCAACACTTAACCATATGCGAGAGATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCC... | GAGAAAAAAGACTATTTTGCAGAGATAATGAGGGAATAATAGGGATTCATTCCATAAATAACTATTCAACACTTAACCATATGCGAGAGATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCC... |
Task1_train_30651 | This sequence change occurs on Chromosome X, altering RPL36A-HNRNPH2, GLA (RPL36A-HNRNPH2 readthrough| galactosidase alpha). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Fabry disease | AAAAGACTATTTTGCAGAGATAATGAGGGAATAATAGGGATTCATTCCATAAATAACTATTCAACACTTAACCATATGCGAGAGATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTA... | AAAAGACTATTTTGCAGAGATAATGAGGGAATAATAGGGATTCATTCCATAAATAACTATTCAACACTTAACCATATGCGAGAGATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTA... |
Task1_train_30652 | A variant on Chromosome X in gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | CTATTTTGCAGAGATAATGAGGGAATAATAGGGATTCATTCCATAAATAACTATTCAACACTTAACCATATGCGAGAGATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATC... | CTATTTTGCAGAGATAATGAGGGAATAATAGGGATTCATTCCATAAATAACTATTCAACACTTAACCATATGCGAGAGATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATC... |
Task1_train_30653 | This variant impacts the gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Fabry disease | TAAATAACTATTCAACACTTAACCATATGCGAGAGATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAA... | TAAATAACTATTCAACACTTAACCATATGCGAGAGATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAA... |
Task1_train_30654 | Here is a variant affecting RPL36A-HNRNPH2, GLA (RPL36A-HNRNPH2 readthrough| galactosidase alpha) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Fabry disease | CATATGCGAGAGATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAAGGCCCTGGGGCAGCAATAGGCTT... | CATATGCGAGAGATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAAGGCCCTGGGGCAGCAATAGGCTT... |
Task1_train_30655 | A variant was discovered in gene RPL36A-HNRNPH2, GLA (RPL36A-HNRNPH2 readthrough| galactosidase alpha), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cardiovascular phenotype | TGCGAGAGATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAAGGCCCTGGGGCAGCAATAGGCTTGCAG... | TGCGAGAGATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAAGGCCCTGGGGCAGCAATAGGCTTGCAG... |
Task1_train_30656 | Gene RPL36A-HNRNPH2, GLA (RPL36A-HNRNPH2 readthrough| galactosidase alpha) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Fabry disease | TGCGAGAGATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAAGGCCCTGGGGCAGCAATAGGCTTGCAG... | TGCGAGAGATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAAGGCCCTGGGGCAGCAATAGGCTTGCAG... |
Task1_train_30657 | Here is a variant affecting GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Fabry disease | ATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAAGGCCCTGGGGCAGCAATAGGCTTGCAGTGTTGAGG... | ATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAAGGCCCTGGGGCAGCAATAGGCTTGCAGTGTTGAGG... |
Task1_train_30658 | Gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | CAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAAGGCCCTGGGGCAGCAATAGGCTTGCAGTGTTGAGGGACAGAA... | CAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAAGGCCCTGGGGCAGCAATAGGCTTGCAGTGTTGAGGGACAGAA... |
Task1_train_30659 | A variant was discovered in gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Fabry disease | CTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAAGGCCCTGGGGCAGCAATAGGCTTGCAGTGTTGAGGGACAGAAAGAAAACCAGTGTAGCCA... | CTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAAGGCCCTGGGGCAGCAATAGGCTTGCAGTGTTGAGGGACAGAAAGAAAACCAGTGTAGCCA... |
Task1_train_30660 | Consider a variant on Chromosome X in gene RPL36A-HNRNPH2, GLA (RPL36A-HNRNPH2 readthrough| galactosidase alpha). Determine its clinical classification and disease relevance. | Pathogenic; Fabry disease | GCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAAGGCCCTGGGGCAGCAATAGGCTTGCAGTGTTGAGGGACAGAAAGAAAACCAGTGTAGCCAGG... | GCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAAGGCCCTGGGGCAGCAATAGGCTTGCAGTGTTGAGGGACAGAAAGAAAACCAGTGTAGCCAGG... |
Task1_train_30661 | This is a variant in GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Fabry disease | TAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAAGGCCCTGGGGCAGCAATAGGCTTGCAGTGTTGAGGGACAGAAAGAAAACCAGTGTAGCCAGGGAAAGAGCCATGACCCCTTGG... | TAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAAGGCCCTGGGGCAGCAATAGGCTTGCAGTGTTGAGGGACAGAAAGAAAACCAGTGTAGCCAGGGAAAGAGCCATGACCCCTTGG... |
Task1_train_30662 | This genomic variant is located on Chromosome X, within the GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Fabry disease | GACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAAGGCCCTGGGGCAGCAATAGGCTTGCAGTGTTGAGGGACAGAAAGAAAACCAGTGTAGCCAGGGAAAGAGCCATGACCCCTTGGACTTTGGGG... | GACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAAGGCCCTGGGGCAGCAATAGGCTTGCAGTGTTGAGGGACAGAAAGAAAACCAGTGTAGCCAGGGAAAGAGCCATGACCCCTTGGACTTTGGGG... |
Task1_train_30663 | Here is a genetic alteration in GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Fabry disease | TCCCTAGCTTCAGTCCTTTGCTGTGAACCTGAAATGAGAGGGAGGAAAAGAGTCACCATTGTAGAAGCACAATCGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTG... | TCCCTAGCTTCAGTCCTTTGCTGTGAACCTGAAATGAGAGGGAGGAAAAGAGTCACCATTGTAGAAGCACAATCGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTG... |
Task1_train_30664 | With a mutation on Chromosome X in gene RPL36A-HNRNPH2, GLA (RPL36A-HNRNPH2 readthrough| galactosidase alpha), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Fabry disease | GTCCTTTGCTGTGAACCTGAAATGAGAGGGAGGAAAAGAGTCACCATTGTAGAAGCACAATCGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATA... | GTCCTTTGCTGTGAACCTGAAATGAGAGGGAGGAAAAGAGTCACCATTGTAGAAGCACAATCGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATA... |
Task1_train_30665 | With a mutation on Chromosome X in gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Fabry disease | TCCTTTGCTGTGAACCTGAAATGAGAGGGAGGAAAAGAGTCACCATTGTAGAAGCACAATCGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAG... | TCCTTTGCTGTGAACCTGAAATGAGAGGGAGGAAAAGAGTCACCATTGTAGAAGCACAATCGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAG... |
Task1_train_30666 | This mutation is located in gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Cardiovascular phenotype | TCCTTTGCTGTGAACCTGAAATGAGAGGGAGGAAAAGAGTCACCATTGTAGAAGCACAATCGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAG... | TCCTTTGCTGTGAACCTGAAATGAGAGGGAGGAAAAGAGTCACCATTGTAGAAGCACAATCGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAG... |
Task1_train_30667 | A sequence alteration has been identified in GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Cardiovascular phenotype | TTTGCTGTGAACCTGAAATGAGAGGGAGGAAAAGAGTCACCATTGTAGAAGCACAATCGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATT... | TTTGCTGTGAACCTGAAATGAGAGGGAGGAAAAGAGTCACCATTGTAGAAGCACAATCGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATT... |
Task1_train_30668 | This alteration in GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Fabry disease | TTTGCTGTGAACCTGAAATGAGAGGGAGGAAAAGAGTCACCATTGTAGAAGCACAATCGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATT... | TTTGCTGTGAACCTGAAATGAGAGGGAGGAAAAGAGTCACCATTGTAGAAGCACAATCGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATT... |
Task1_train_30669 | A variant found in Chromosome X affects GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Fabry disease | GTAGAAGCACAATCGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATTTACCTTGACAAAGACTCTTCTTGACCAAACTTTAGTTAGACTTC... | GTAGAAGCACAATCGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATTTACCTTGACAAAGACTCTTCTTGACCAAACTTTAGTTAGACTTC... |
Task1_train_30670 | Located on Chromosome X, this mutation impacts GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Fabry disease | CAATCGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATTTACCTTGACAAAGACTCTTCTTGACCAAACTTTAGTTAGACTTCTCTGATGAG... | CAATCGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATTTACCTTGACAAAGACTCTTCTTGACCAAACTTTAGTTAGACTTCTCTGATGAG... |
Task1_train_30671 | A variant has been detected on Chromosome X in GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Fabry disease | CGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATTTACCTTGACAAAGACTCTTCTTGACCAAACTTTAGTTAGACTTCTCTGATGAGCCTT... | CGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATTTACCTTGACAAAGACTCTTCTTGACCAAACTTTAGTTAGACTTCTCTGATGAGCCTT... |
Task1_train_30672 | This variant impacts the gene RPL36A-HNRNPH2, GLA (RPL36A-HNRNPH2 readthrough| galactosidase alpha) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Fabry disease | GAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATTTACCTTGACAAAGACTCTTCTTGACCAAACTTTAGTTAGACTTCTCTGATGAGCCTTCTT... | GAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATTTACCTTGACAAAGACTCTTCTTGACCAAACTTTAGTTAGACTTCTCTGATGAGCCTTCTT... |
Task1_train_30673 | Here is a mutation in GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Fabry disease | GAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATTTACCTTGACAAAGACTCTTCTTGACCAAACTTTAGTTAGACTTCTCTGATGAGCCTTCTT... | GAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATTTACCTTGACAAAGACTCTTCTTGACCAAACTTTAGTTAGACTTCTCTGATGAGCCTTCTT... |
Task1_train_30674 | This variant affects gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; GLA-related disorder | GGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATTTACCTTGACAAAGACTCTTCTTGACCAAACTTTAGTTAGACTTCTCTGATGAGCCTTCTTTT... | GGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATTTACCTTGACAAAGACTCTTCTTGACCAAACTTTAGTTAGACTTCTCTGATGAGCCTTCTTTT... |
Task1_train_30675 | The variant affects gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Fabry disease | GGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATTTACCTTGACAAAGACTCTTCTTGACCAAACTTTAGTTAGACTTCTCTGATGAGCCTTCTTTT... | GGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATTTACCTTGACAAAGACTCTTCTTGACCAAACTTTAGTTAGACTTCTCTGATGAGCCTTCTTTT... |
Task1_train_30676 | This variant impacts the gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Fabry disease | GGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATTTACCTTGACAAAGACTCTTCTTGACCAAACTTTAGTTAGACTTCTCTGATGAGCCTTCTTTTCGACTAGACCTCCACCTTGGCTTCCTATGT... | GGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATTTACCTTGACAAAGACTCTTCTTGACCAAACTTTAGTTAGACTTCTCTGATGAGCCTTCTTTTCGACTAGACCTCCACCTTGGCTTCCTATGT... |
Task1_train_30677 | This gene mutation involves GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Fabry disease | TGTAATCCCAGCACTCTGGGAGGCCAAGGCGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGA... | TGTAATCCCAGCACTCTGGGAGGCCAAGGCGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGA... |
Task1_train_30678 | Given this variant in gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Fabry disease | CCCAGCACTCTGGGAGGCCAAGGCGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACG... | CCCAGCACTCTGGGAGGCCAAGGCGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACG... |
Task1_train_30679 | A variant has been detected on Chromosome X in GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Fabry disease | GCGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACC... | GCGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACC... |
Task1_train_30680 | This variant impacts the gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Fabry disease | CTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATG... | CTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATG... |
Task1_train_30681 | The gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Fabry disease | GTTCGAGACCAGCTTGGGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTC... | GTTCGAGACCAGCTTGGGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTC... |
Task1_train_30682 | Gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | GAGACCAGCTTGGGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTA... | GAGACCAGCTTGGGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTA... |
Task1_train_30683 | With a mutation on Chromosome X in gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Fabry disease | AGACCAGCTTGGGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTAC... | AGACCAGCTTGGGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTAC... |
Task1_train_30684 | This sequence change occurs on Chromosome X, altering GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Fabry disease | TTGGGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAA... | TTGGGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAA... |
Task1_train_30685 | A variant affecting Chromosome X, within the gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Fabry disease | TGGGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAA... | TGGGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAA... |
Task1_train_30686 | A genomic change on Chromosome X affects GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | GGGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAA... | GGGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAA... |
Task1_train_30687 | This mutation is located in gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Fabry disease | GGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAA... | GGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAA... |
Task1_train_30688 | Consider this mutation in GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Fabry disease | GCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAA... | GCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAA... |
Task1_train_30689 | Consider this mutation in GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Fabry disease | TGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAA... | TGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAA... |
Task1_train_30690 | This alteration in GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Fabry disease | ACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGT... | ACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGT... |
Task1_train_30691 | Here is a variant affecting GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Fabry disease, cardiac variant | ATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC... | ATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC... |
Task1_train_30692 | The gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | AGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAG... | AGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAG... |
Task1_train_30693 | This is a variant in GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Fabry disease | GGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCGTG... | GGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCGTG... |
Task1_train_30694 | A variant was discovered in gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Fabry disease | TTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCAC... | TTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCAC... |
Task1_train_30695 | This variant lies on Chromosome X and affects the gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Fabry disease | TTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCAC... | TTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCAC... |
Task1_train_30696 | Gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Cardiovascular phenotype | TTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACT... | TTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACT... |
Task1_train_30697 | Given this context: Chromosome X, gene GLA, RPL36A-HNRNPH2 (galactosidase alpha| RPL36A-HNRNPH2 readthrough) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Fabry disease | TTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACT... | TTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACT... |
Task1_train_30698 | Here’s a variant in HNRNPH2, RPL36A-HNRNPH2 (heterogeneous nuclear ribonucleoprotein H2| RPL36A-HNRNPH2 readthrough) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Intellectual disability, X-linked, syndromic, Bain type | TACATATTATCAAATTGCTTTCAGGATATAGTGGGGTTTATCAAAAAGGAAATAGTTTATATCAATTATCACTCTTCTGGTAGTGTATTAGTTTGTGAACTGCATAGCACTGATTTACTGTTGCTGTTTAATTTCCATTATCTTGATGGGTGAAAAATAACGATTAGTTCTGATTTTAACTTGCTGGAAGATTGATTAAATTTGAACATTTCCCAGATTCCTCTCCTGTATCCTCCTATACCTGTATTCTCTCATACTTAATCTGTTATCAAGTCCCGCAGATTCCACTTTTTTTGGTATGTGTAGATACATCTTTTCTC... | TACATATTATCAAATTGCTTTCAGGATATAGTGGGGTTTATCAAAAAGGAAATAGTTTATATCAATTATCACTCTTCTGGTAGTGTATTAGTTTGTGAACTGCATAGCACTGATTTACTGTTGCTGTTTAATTTCCATTATCTTGATGGGTGAAAAATAACGATTAGTTCTGATTTTAACTTGCTGGAAGATTGATTAAATTTGAACATTTCCCAGATTCCTCTCCTGTATCCTCCTATACCTGTATTCTCTCATACTTAATCTGTTATCAAGTCCCGCAGATTCCACTTTTTTTGGTATGTGTAGATACATCTTTTCTC... |
Task1_train_30699 | The gene HNRNPH2, RPL36A-HNRNPH2 (heterogeneous nuclear ribonucleoprotein H2| RPL36A-HNRNPH2 readthrough) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Intellectual disability, X-linked, syndromic, Bain type | GCAGATTCCACTTTTTTTGGTATGTGTAGATACATCTTTTCTCCATTTTACTCCTGTTGCCTTAGGCGATTCCTTTAACATATATTTATGAGACAAGTTCTAACTAATCTCCCTAGTTCCACGTCGACCCCCTTCTGTTTGAGTGCCACGCTGTTGCCAGGGTGATCTGTCTGAAAGAGTTTTGGTGAAGTCACCCTACATACTCCCCGGTTTAAAAGTCTTAAAAGGCGCTTAGTGTTTGTATATCAAAGTCTTTGGGATCTGATCTATGCCTTGCCAGTCTTTTCACTTGCTTTTCCCTCTCCTATTTGTGCTTCATC... | GCAGATTCCACTTTTTTTGGTATGTGTAGATACATCTTTTCTCCATTTTACTCCTGTTGCCTTAGGCGATTCCTTTAACATATATTTATGAGACAAGTTCTAACTAATCTCCCTAGTTCCACGTCGACCCCCTTCTGTTTGAGTGCCACGCTGTTGCCAGGGTGATCTGTCTGAAAGAGTTTTGGTGAAGTCACCCTACATACTCCCCGGTTTAAAAGTCTTAAAAGGCGCTTAGTGTTTGTATATCAAAGTCTTTGGGATCTGATCTATGCCTTGCCAGTCTTTTCACTTGCTTTTCCCTCTCCTATTTGTGCTTCATC... |
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