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_29400 | Here is a genetic alteration in ARX (aristaless related homeobox) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Corpus callosum agenesis-abnormal genitalia syndrome | GGTATGTTAAGCTTGTTAAGAGTTCAGTGGGGTAATTTTTCGATTAAACAAAATTCTGCGCACCTCCTGACTCCAATGCCCACTACAAACCCTGCCCATCTCAGGGGAAGTCAATTTAACTGAAACCCTACCCCATCATTGCAGTTATTACTGCGACAATTAAGGCAAATAGGAAACCATTAAGATGCTGTAAAACGGCTTACAACCTGTTTACCGAAAATATGACCGCGCCGAGAATAATTGGCCCTCCGGCTCGCTAATATGAAAGAGCGGGGCCGCCGAAGCCTGGGACCTGGGGTTGCCCTGCCGGTAGGCCCCCA... | GGTATGTTAAGCTTGTTAAGAGTTCAGTGGGGTAATTTTTCGATTAAACAAAATTCTGCGCACCTCCTGACTCCAATGCCCACTACAAACCCTGCCCATCTCAGGGGAAGTCAATTTAACTGAAACCCTACCCCATCATTGCAGTTATTACTGCGACAATTAAGGCAAATAGGAAACCATTAAGATGCTGTAAAACGGCTTACAACCTGTTTACCGAAAATATGACCGCGCCGAGAATAATTGGCCCTCCGGCTCGCTAATATGAAAGAGCGGGGCCGCCGAAGCCTGGGACCTGGGGTTGCCCTGCCGGTAGGCCCCCA... |
Task1_train_29401 | Gene ARX (aristaless related homeobox), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Developmental and epileptic encephalopathy, 1 | GGTATGTTAAGCTTGTTAAGAGTTCAGTGGGGTAATTTTTCGATTAAACAAAATTCTGCGCACCTCCTGACTCCAATGCCCACTACAAACCCTGCCCATCTCAGGGGAAGTCAATTTAACTGAAACCCTACCCCATCATTGCAGTTATTACTGCGACAATTAAGGCAAATAGGAAACCATTAAGATGCTGTAAAACGGCTTACAACCTGTTTACCGAAAATATGACCGCGCCGAGAATAATTGGCCCTCCGGCTCGCTAATATGAAAGAGCGGGGCCGCCGAAGCCTGGGACCTGGGGTTGCCCTGCCGGTAGGCCCCCA... | GGTATGTTAAGCTTGTTAAGAGTTCAGTGGGGTAATTTTTCGATTAAACAAAATTCTGCGCACCTCCTGACTCCAATGCCCACTACAAACCCTGCCCATCTCAGGGGAAGTCAATTTAACTGAAACCCTACCCCATCATTGCAGTTATTACTGCGACAATTAAGGCAAATAGGAAACCATTAAGATGCTGTAAAACGGCTTACAACCTGTTTACCGAAAATATGACCGCGCCGAGAATAATTGGCCCTCCGGCTCGCTAATATGAAAGAGCGGGGCCGCCGAAGCCTGGGACCTGGGGTTGCCCTGCCGGTAGGCCCCCA... |
Task1_train_29402 | This mutation is located in gene ARX (aristaless related homeobox) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; X-linked lissencephaly with abnormal genitalia | GGTAATTTTTCGATTAAACAAAATTCTGCGCACCTCCTGACTCCAATGCCCACTACAAACCCTGCCCATCTCAGGGGAAGTCAATTTAACTGAAACCCTACCCCATCATTGCAGTTATTACTGCGACAATTAAGGCAAATAGGAAACCATTAAGATGCTGTAAAACGGCTTACAACCTGTTTACCGAAAATATGACCGCGCCGAGAATAATTGGCCCTCCGGCTCGCTAATATGAAAGAGCGGGGCCGCCGAAGCCTGGGACCTGGGGTTGCCCTGCCGGTAGGCCCCCAGTCCACACCTGAAACTTCAGCACCAGAGGT... | GGTAATTTTTCGATTAAACAAAATTCTGCGCACCTCCTGACTCCAATGCCCACTACAAACCCTGCCCATCTCAGGGGAAGTCAATTTAACTGAAACCCTACCCCATCATTGCAGTTATTACTGCGACAATTAAGGCAAATAGGAAACCATTAAGATGCTGTAAAACGGCTTACAACCTGTTTACCGAAAATATGACCGCGCCGAGAATAATTGGCCCTCCGGCTCGCTAATATGAAAGAGCGGGGCCGCCGAAGCCTGGGACCTGGGGTTGCCCTGCCGGTAGGCCCCCAGTCCACACCTGAAACTTCAGCACCAGAGGT... |
Task1_train_29403 | A genetic alteration is present in ARX (aristaless related homeobox) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; epileptic encephalopathy, early infanitle, 1 | CACCTCCTGACTCCAATGCCCACTACAAACCCTGCCCATCTCAGGGGAAGTCAATTTAACTGAAACCCTACCCCATCATTGCAGTTATTACTGCGACAATTAAGGCAAATAGGAAACCATTAAGATGCTGTAAAACGGCTTACAACCTGTTTACCGAAAATATGACCGCGCCGAGAATAATTGGCCCTCCGGCTCGCTAATATGAAAGAGCGGGGCCGCCGAAGCCTGGGACCTGGGGTTGCCCTGCCGGTAGGCCCCCAGTCCACACCTGAAACTTCAGCACCAGAGGTAAACCGTCTCCATAAGTGCCCTCCGTTGCC... | CACCTCCTGACTCCAATGCCCACTACAAACCCTGCCCATCTCAGGGGAAGTCAATTTAACTGAAACCCTACCCCATCATTGCAGTTATTACTGCGACAATTAAGGCAAATAGGAAACCATTAAGATGCTGTAAAACGGCTTACAACCTGTTTACCGAAAATATGACCGCGCCGAGAATAATTGGCCCTCCGGCTCGCTAATATGAAAGAGCGGGGCCGCCGAAGCCTGGGACCTGGGGTTGCCCTGCCGGTAGGCCCCCAGTCCACACCTGAAACTTCAGCACCAGAGGTAAACCGTCTCCATAAGTGCCCTCCGTTGCC... |
Task1_train_29404 | The variant affects gene ARX (aristaless related homeobox), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | CACCTCCTGACTCCAATGCCCACTACAAACCCTGCCCATCTCAGGGGAAGTCAATTTAACTGAAACCCTACCCCATCATTGCAGTTATTACTGCGACAATTAAGGCAAATAGGAAACCATTAAGATGCTGTAAAACGGCTTACAACCTGTTTACCGAAAATATGACCGCGCCGAGAATAATTGGCCCTCCGGCTCGCTAATATGAAAGAGCGGGGCCGCCGAAGCCTGGGACCTGGGGTTGCCCTGCCGGTAGGCCCCCAGTCCACACCTGAAACTTCAGCACCAGAGGTAAACCGTCTCCATAAGTGCCCTCCGTTGCC... | CACCTCCTGACTCCAATGCCCACTACAAACCCTGCCCATCTCAGGGGAAGTCAATTTAACTGAAACCCTACCCCATCATTGCAGTTATTACTGCGACAATTAAGGCAAATAGGAAACCATTAAGATGCTGTAAAACGGCTTACAACCTGTTTACCGAAAATATGACCGCGCCGAGAATAATTGGCCCTCCGGCTCGCTAATATGAAAGAGCGGGGCCGCCGAAGCCTGGGACCTGGGGTTGCCCTGCCGGTAGGCCCCCAGTCCACACCTGAAACTTCAGCACCAGAGGTAAACCGTCTCCATAAGTGCCCTCCGTTGCC... |
Task1_train_29405 | This sequence variant lies in ARX (aristaless related homeobox) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; X-linked lissencephaly with abnormal genitalia | CTCCTGACTCCAATGCCCACTACAAACCCTGCCCATCTCAGGGGAAGTCAATTTAACTGAAACCCTACCCCATCATTGCAGTTATTACTGCGACAATTAAGGCAAATAGGAAACCATTAAGATGCTGTAAAACGGCTTACAACCTGTTTACCGAAAATATGACCGCGCCGAGAATAATTGGCCCTCCGGCTCGCTAATATGAAAGAGCGGGGCCGCCGAAGCCTGGGACCTGGGGTTGCCCTGCCGGTAGGCCCCCAGTCCACACCTGAAACTTCAGCACCAGAGGTAAACCGTCTCCATAAGTGCCCTCCGTTGCCGTT... | CTCCTGACTCCAATGCCCACTACAAACCCTGCCCATCTCAGGGGAAGTCAATTTAACTGAAACCCTACCCCATCATTGCAGTTATTACTGCGACAATTAAGGCAAATAGGAAACCATTAAGATGCTGTAAAACGGCTTACAACCTGTTTACCGAAAATATGACCGCGCCGAGAATAATTGGCCCTCCGGCTCGCTAATATGAAAGAGCGGGGCCGCCGAAGCCTGGGACCTGGGGTTGCCCTGCCGGTAGGCCCCCAGTCCACACCTGAAACTTCAGCACCAGAGGTAAACCGTCTCCATAAGTGCCCTCCGTTGCCGTT... |
Task1_train_29406 | Gene ARX (aristaless related homeobox) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Intellectual disability, X-linked, with or without seizures, ARX-related | CTCCTGACTCCAATGCCCACTACAAACCCTGCCCATCTCAGGGGAAGTCAATTTAACTGAAACCCTACCCCATCATTGCAGTTATTACTGCGACAATTAAGGCAAATAGGAAACCATTAAGATGCTGTAAAACGGCTTACAACCTGTTTACCGAAAATATGACCGCGCCGAGAATAATTGGCCCTCCGGCTCGCTAATATGAAAGAGCGGGGCCGCCGAAGCCTGGGACCTGGGGTTGCCCTGCCGGTAGGCCCCCAGTCCACACCTGAAACTTCAGCACCAGAGGTAAACCGTCTCCATAAGTGCCCTCCGTTGCCGTT... | CTCCTGACTCCAATGCCCACTACAAACCCTGCCCATCTCAGGGGAAGTCAATTTAACTGAAACCCTACCCCATCATTGCAGTTATTACTGCGACAATTAAGGCAAATAGGAAACCATTAAGATGCTGTAAAACGGCTTACAACCTGTTTACCGAAAATATGACCGCGCCGAGAATAATTGGCCCTCCGGCTCGCTAATATGAAAGAGCGGGGCCGCCGAAGCCTGGGACCTGGGGTTGCCCTGCCGGTAGGCCCCCAGTCCACACCTGAAACTTCAGCACCAGAGGTAAACCGTCTCCATAAGTGCCCTCCGTTGCCGTT... |
Task1_train_29407 | A genomic change on Chromosome X affects ARX (aristaless related homeobox). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Developmental and epileptic encephalopathy, 1 | CTCCTGACTCCAATGCCCACTACAAACCCTGCCCATCTCAGGGGAAGTCAATTTAACTGAAACCCTACCCCATCATTGCAGTTATTACTGCGACAATTAAGGCAAATAGGAAACCATTAAGATGCTGTAAAACGGCTTACAACCTGTTTACCGAAAATATGACCGCGCCGAGAATAATTGGCCCTCCGGCTCGCTAATATGAAAGAGCGGGGCCGCCGAAGCCTGGGACCTGGGGTTGCCCTGCCGGTAGGCCCCCAGTCCACACCTGAAACTTCAGCACCAGAGGTAAACCGTCTCCATAAGTGCCCTCCGTTGCCGTT... | CTCCTGACTCCAATGCCCACTACAAACCCTGCCCATCTCAGGGGAAGTCAATTTAACTGAAACCCTACCCCATCATTGCAGTTATTACTGCGACAATTAAGGCAAATAGGAAACCATTAAGATGCTGTAAAACGGCTTACAACCTGTTTACCGAAAATATGACCGCGCCGAGAATAATTGGCCCTCCGGCTCGCTAATATGAAAGAGCGGGGCCGCCGAAGCCTGGGACCTGGGGTTGCCCTGCCGGTAGGCCCCCAGTCCACACCTGAAACTTCAGCACCAGAGGTAAACCGTCTCCATAAGTGCCCTCCGTTGCCGTT... |
Task1_train_29408 | The following genetic variant occurs in ARX (aristaless related homeobox) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Intellectual disability, X-linked, with or without seizures, ARX-related | GCCGCGCGGTTGGCGGTGGCGGCGGAGGGGCCTCCCCGCGTGGACCCGCCGTGGCCGTGGCGGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGCACCCTGAAGGAGGCGGCCCCCGCCCGGGCCGTACAGGCGCCGCAGCTTGGGCGGCAGGTGCAGCTCGGCCTCGAACGGGGCGCTGCTGCTCTTAGGGGAGCCTGCGGGCAAGGGAGAGCTATCAGCCAGCCGGCCGGCCGGGGAGTCCCAGCCAGGGCTGCTGCCGGGGCCCGCCCGCAGTTGCTCCCCCAGTGCCTAGGCCCAGGCGTGCGGG... | GCCGCGCGGTTGGCGGTGGCGGCGGAGGGGCCTCCCCGCGTGGACCCGCCGTGGCCGTGGCGGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGCACCCTGAAGGAGGCGGCCCCCGCCCGGGCCGTACAGGCGCCGCAGCTTGGGCGGCAGGTGCAGCTCGGCCTCGAACGGGGCGCTGCTGCTCTTAGGGGAGCCTGCGGGCAAGGGAGAGCTATCAGCCAGCCGGCCGGCCGGGGAGTCCCAGCCAGGGCTGCTGCCGGGGCCCGCCCGCAGTTGCTCCCCCAGTGCCTAGGCCCAGGCGTGCGGG... |
Task1_train_29409 | Gene ARX (aristaless related homeobox) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Corpus callosum agenesis-abnormal genitalia syndrome | CCGCTGCCGCACCCTGAAGGAGGCGGCCCCCGCCCGGGCCGTACAGGCGCCGCAGCTTGGGCGGCAGGTGCAGCTCGGCCTCGAACGGGGCGCTGCTGCTCTTAGGGGAGCCTGCGGGCAAGGGAGAGCTATCAGCCAGCCGGCCGGCCGGGGAGTCCCAGCCAGGGCTGCTGCCGGGGCCCGCCCGCAGTTGCTCCCCCAGTGCCTAGGCCCAGGCGTGCGGGGACCGCGCACCACCAGACTTCGACGCCTTGGCCTCTTTCTCCACTTTTCTTGCTTTTTCTTTTTCTTTCTTTCTCTCCTTCTCCCTTTCTCTGGGT... | CCGCTGCCGCACCCTGAAGGAGGCGGCCCCCGCCCGGGCCGTACAGGCGCCGCAGCTTGGGCGGCAGGTGCAGCTCGGCCTCGAACGGGGCGCTGCTGCTCTTAGGGGAGCCTGCGGGCAAGGGAGAGCTATCAGCCAGCCGGCCGGCCGGGGAGTCCCAGCCAGGGCTGCTGCCGGGGCCCGCCCGCAGTTGCTCCCCCAGTGCCTAGGCCCAGGCGTGCGGGGACCGCGCACCACCAGACTTCGACGCCTTGGCCTCTTTCTCCACTTTTCTTGCTTTTTCTTTTTCTTTCTTTCTCTCCTTCTCCCTTTCTCTGGGT... |
Task1_train_29410 | A variant has been detected on Chromosome X in NR0B1 (nuclear receptor subfamily 0 group B member 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Congenital adrenal hypoplasia, X-linked | ACTTTACTTCCCTTGCCTTTCTCCTGTTGTACACAACTTGGTAAGGCAGTTTGATCATCCAATGCAGCTGTCCTCAGAAAAGGACTGATTTTTGCTAGGTGTTCACTAAATAAATGATCATGGAAAAAGGCTTGGGGCGGGGGGTACGTAAACCCATTTTGAAAAAATATTGAAAATCAGGATTTTGCCCTGACCAGTTCCTGTGTCTTTCTGGTTAAGTTGTATTAAAACGTTACTCTGTGAAAATGCCTCTGTCCCTCTTACACACAATCCTTCCAGAAGGTCTAGGTGAAAAGAGAAGTGATTAGGAAAAATTACAT... | ACTTTACTTCCCTTGCCTTTCTCCTGTTGTACACAACTTGGTAAGGCAGTTTGATCATCCAATGCAGCTGTCCTCAGAAAAGGACTGATTTTTGCTAGGTGTTCACTAAATAAATGATCATGGAAAAAGGCTTGGGGCGGGGGGTACGTAAACCCATTTTGAAAAAATATTGAAAATCAGGATTTTGCCCTGACCAGTTCCTGTGTCTTTCTGGTTAAGTTGTATTAAAACGTTACTCTGTGAAAATGCCTCTGTCCCTCTTACACACAATCCTTCCAGAAGGTCTAGGTGAAAAGAGAAGTGATTAGGAAAAATTACAT... |
Task1_train_29411 | The following genetic variant occurs in NR0B1 (nuclear receptor subfamily 0 group B member 1) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Congenital adrenal hypoplasia, X-linked | TCCTGTTGTACACAACTTGGTAAGGCAGTTTGATCATCCAATGCAGCTGTCCTCAGAAAAGGACTGATTTTTGCTAGGTGTTCACTAAATAAATGATCATGGAAAAAGGCTTGGGGCGGGGGGTACGTAAACCCATTTTGAAAAAATATTGAAAATCAGGATTTTGCCCTGACCAGTTCCTGTGTCTTTCTGGTTAAGTTGTATTAAAACGTTACTCTGTGAAAATGCCTCTGTCCCTCTTACACACAATCCTTCCAGAAGGTCTAGGTGAAAAGAGAAGTGATTAGGAAAAATTACATGAAGTTAGGATTATTGAATGG... | TCCTGTTGTACACAACTTGGTAAGGCAGTTTGATCATCCAATGCAGCTGTCCTCAGAAAAGGACTGATTTTTGCTAGGTGTTCACTAAATAAATGATCATGGAAAAAGGCTTGGGGCGGGGGGTACGTAAACCCATTTTGAAAAAATATTGAAAATCAGGATTTTGCCCTGACCAGTTCCTGTGTCTTTCTGGTTAAGTTGTATTAAAACGTTACTCTGTGAAAATGCCTCTGTCCCTCTTACACACAATCCTTCCAGAAGGTCTAGGTGAAAAGAGAAGTGATTAGGAAAAATTACATGAAGTTAGGATTATTGAATGG... |
Task1_train_29412 | This variant affects the gene NR0B1 (nuclear receptor subfamily 0 group B member 1) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Congenital adrenal hypoplasia, X-linked | TGTTGTACACAACTTGGTAAGGCAGTTTGATCATCCAATGCAGCTGTCCTCAGAAAAGGACTGATTTTTGCTAGGTGTTCACTAAATAAATGATCATGGAAAAAGGCTTGGGGCGGGGGGTACGTAAACCCATTTTGAAAAAATATTGAAAATCAGGATTTTGCCCTGACCAGTTCCTGTGTCTTTCTGGTTAAGTTGTATTAAAACGTTACTCTGTGAAAATGCCTCTGTCCCTCTTACACACAATCCTTCCAGAAGGTCTAGGTGAAAAGAGAAGTGATTAGGAAAAATTACATGAAGTTAGGATTATTGAATGGGGC... | TGTTGTACACAACTTGGTAAGGCAGTTTGATCATCCAATGCAGCTGTCCTCAGAAAAGGACTGATTTTTGCTAGGTGTTCACTAAATAAATGATCATGGAAAAAGGCTTGGGGCGGGGGGTACGTAAACCCATTTTGAAAAAATATTGAAAATCAGGATTTTGCCCTGACCAGTTCCTGTGTCTTTCTGGTTAAGTTGTATTAAAACGTTACTCTGTGAAAATGCCTCTGTCCCTCTTACACACAATCCTTCCAGAAGGTCTAGGTGAAAAGAGAAGTGATTAGGAAAAATTACATGAAGTTAGGATTATTGAATGGGGC... |
Task1_train_29413 | Here is a variant affecting NR0B1 (nuclear receptor subfamily 0 group B member 1) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Congenital adrenal hypoplasia, X-linked | GCTGTCCTCAGAAAAGGACTGATTTTTGCTAGGTGTTCACTAAATAAATGATCATGGAAAAAGGCTTGGGGCGGGGGGTACGTAAACCCATTTTGAAAAAATATTGAAAATCAGGATTTTGCCCTGACCAGTTCCTGTGTCTTTCTGGTTAAGTTGTATTAAAACGTTACTCTGTGAAAATGCCTCTGTCCCTCTTACACACAATCCTTCCAGAAGGTCTAGGTGAAAAGAGAAGTGATTAGGAAAAATTACATGAAGTTAGGATTATTGAATGGGGCACATTGATTTTGTAACAGTCAAGAAAAACAACCCTGACACCT... | GCTGTCCTCAGAAAAGGACTGATTTTTGCTAGGTGTTCACTAAATAAATGATCATGGAAAAAGGCTTGGGGCGGGGGGTACGTAAACCCATTTTGAAAAAATATTGAAAATCAGGATTTTGCCCTGACCAGTTCCTGTGTCTTTCTGGTTAAGTTGTATTAAAACGTTACTCTGTGAAAATGCCTCTGTCCCTCTTACACACAATCCTTCCAGAAGGTCTAGGTGAAAAGAGAAGTGATTAGGAAAAATTACATGAAGTTAGGATTATTGAATGGGGCACATTGATTTTGTAACAGTCAAGAAAAACAACCCTGACACCT... |
Task1_train_29414 | This variant impacts the gene NR0B1 (nuclear receptor subfamily 0 group B member 1) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Congenital adrenal hypoplasia, X-linked | ATCTGAAGCTTCTCTAGGTCTAGATTCATGGCTTGTGAAAACTTCATCTTGTGTATGCCACATTACTTTTCTCTGTGTTCACAATATACCCCTCCACCTTCTCCCCACCCAAGTGGTTCCCCCCCACACAGAGACACACAAACTGGCCTTCAAAATAAGGTCAGGGAAGAGAAAATGCAAATGGACTCCACAGTTTTATATCTCCTTAAGTTTGAACCTATATATATAATGTATTTAAATTTATATATGGGACATACAAAGGATAAACAGCAAAGAGAGGCCACACTCTTAATAGGCATTACCTTTCTCCCAAATATAGG... | ATCTGAAGCTTCTCTAGGTCTAGATTCATGGCTTGTGAAAACTTCATCTTGTGTATGCCACATTACTTTTCTCTGTGTTCACAATATACCCCTCCACCTTCTCCCCACCCAAGTGGTTCCCCCCCACACAGAGACACACAAACTGGCCTTCAAAATAAGGTCAGGGAAGAGAAAATGCAAATGGACTCCACAGTTTTATATCTCCTTAAGTTTGAACCTATATATATAATGTATTTAAATTTATATATGGGACATACAAAGGATAAACAGCAAAGAGAGGCCACACTCTTAATAGGCATTACCTTTCTCCCAAATATAGG... |
Task1_train_29415 | A variant has been detected on Chromosome X in NR0B1 (nuclear receptor subfamily 0 group B member 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Congenital adrenal hypoplasia, X-linked | GAAGCTTCTCTAGGTCTAGATTCATGGCTTGTGAAAACTTCATCTTGTGTATGCCACATTACTTTTCTCTGTGTTCACAATATACCCCTCCACCTTCTCCCCACCCAAGTGGTTCCCCCCCACACAGAGACACACAAACTGGCCTTCAAAATAAGGTCAGGGAAGAGAAAATGCAAATGGACTCCACAGTTTTATATCTCCTTAAGTTTGAACCTATATATATAATGTATTTAAATTTATATATGGGACATACAAAGGATAAACAGCAAAGAGAGGCCACACTCTTAATAGGCATTACCTTTCTCCCAAATATAGGTACA... | GAAGCTTCTCTAGGTCTAGATTCATGGCTTGTGAAAACTTCATCTTGTGTATGCCACATTACTTTTCTCTGTGTTCACAATATACCCCTCCACCTTCTCCCCACCCAAGTGGTTCCCCCCCACACAGAGACACACAAACTGGCCTTCAAAATAAGGTCAGGGAAGAGAAAATGCAAATGGACTCCACAGTTTTATATCTCCTTAAGTTTGAACCTATATATATAATGTATTTAAATTTATATATGGGACATACAAAGGATAAACAGCAAAGAGAGGCCACACTCTTAATAGGCATTACCTTTCTCCCAAATATAGGTACA... |
Task1_train_29416 | A variant was discovered in gene NR0B1 (nuclear receptor subfamily 0 group B member 1), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Congenital adrenal hypoplasia, X-linked | CTTCTCTAGGTCTAGATTCATGGCTTGTGAAAACTTCATCTTGTGTATGCCACATTACTTTTCTCTGTGTTCACAATATACCCCTCCACCTTCTCCCCACCCAAGTGGTTCCCCCCCACACAGAGACACACAAACTGGCCTTCAAAATAAGGTCAGGGAAGAGAAAATGCAAATGGACTCCACAGTTTTATATCTCCTTAAGTTTGAACCTATATATATAATGTATTTAAATTTATATATGGGACATACAAAGGATAAACAGCAAAGAGAGGCCACACTCTTAATAGGCATTACCTTTCTCCCAAATATAGGTACATTTG... | CTTCTCTAGGTCTAGATTCATGGCTTGTGAAAACTTCATCTTGTGTATGCCACATTACTTTTCTCTGTGTTCACAATATACCCCTCCACCTTCTCCCCACCCAAGTGGTTCCCCCCCACACAGAGACACACAAACTGGCCTTCAAAATAAGGTCAGGGAAGAGAAAATGCAAATGGACTCCACAGTTTTATATCTCCTTAAGTTTGAACCTATATATATAATGTATTTAAATTTATATATGGGACATACAAAGGATAAACAGCAAAGAGAGGCCACACTCTTAATAGGCATTACCTTTCTCCCAAATATAGGTACATTTG... |
Task1_train_29417 | A variant on Chromosome X in gene NR0B1 (nuclear receptor subfamily 0 group B member 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; 46,XY sex reversal 2 | CAAAGGATAAACAGCAAAGAGAGGCCACACTCTTAATAGGCATTACCTTTCTCCCAAATATAGGTACATTTGTGTTTCAAACACACTCAGCTTAGCTGGTTAAACTCATATTGAGAGAGGATTAGGAAAAGTCAATCAAGAATAAGGAAGAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAAAAGTATATAAAACAGAGTCAAGGGAAACTGTTGATACTGAAACTAATGGAATGTAAATTTCTGGAAGCTGAGCCCCTCTCACCTTTATATCCCAACAGGACGAGGAACATAGTGGATGATTAGTAA... | CAAAGGATAAACAGCAAAGAGAGGCCACACTCTTAATAGGCATTACCTTTCTCCCAAATATAGGTACATTTGTGTTTCAAACACACTCAGCTTAGCTGGTTAAACTCATATTGAGAGAGGATTAGGAAAAGTCAATCAAGAATAAGGAAGAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAAAAGTATATAAAACAGAGTCAAGGGAAACTGTTGATACTGAAACTAATGGAATGTAAATTTCTGGAAGCTGAGCCCCTCTCACCTTTATATCCCAACAGGACGAGGAACATAGTGGATGATTAGTAA... |
Task1_train_29418 | An alteration has been detected in NR0B1 (nuclear receptor subfamily 0 group B member 1) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Congenital adrenal hypoplasia, X-linked | CAAAGGATAAACAGCAAAGAGAGGCCACACTCTTAATAGGCATTACCTTTCTCCCAAATATAGGTACATTTGTGTTTCAAACACACTCAGCTTAGCTGGTTAAACTCATATTGAGAGAGGATTAGGAAAAGTCAATCAAGAATAAGGAAGAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAAAAGTATATAAAACAGAGTCAAGGGAAACTGTTGATACTGAAACTAATGGAATGTAAATTTCTGGAAGCTGAGCCCCTCTCACCTTTATATCCCAACAGGACGAGGAACATAGTGGATGATTAGTAA... | CAAAGGATAAACAGCAAAGAGAGGCCACACTCTTAATAGGCATTACCTTTCTCCCAAATATAGGTACATTTGTGTTTCAAACACACTCAGCTTAGCTGGTTAAACTCATATTGAGAGAGGATTAGGAAAAGTCAATCAAGAATAAGGAAGAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAAAAGTATATAAAACAGAGTCAAGGGAAACTGTTGATACTGAAACTAATGGAATGTAAATTTCTGGAAGCTGAGCCCCTCTCACCTTTATATCCCAACAGGACGAGGAACATAGTGGATGATTAGTAA... |
Task1_train_29419 | With a mutation on Chromosome X in gene NR0B1 (nuclear receptor subfamily 0 group B member 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Congenital adrenal hypoplasia, X-linked | AGAGAGGCCACACTCTTAATAGGCATTACCTTTCTCCCAAATATAGGTACATTTGTGTTTCAAACACACTCAGCTTAGCTGGTTAAACTCATATTGAGAGAGGATTAGGAAAAGTCAATCAAGAATAAGGAAGAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAAAAGTATATAAAACAGAGTCAAGGGAAACTGTTGATACTGAAACTAATGGAATGTAAATTTCTGGAAGCTGAGCCCCTCTCACCTTTATATCCCAACAGGACGAGGAACATAGTGGATGATTAGTAACACTGGCTGAAGGAATA... | AGAGAGGCCACACTCTTAATAGGCATTACCTTTCTCCCAAATATAGGTACATTTGTGTTTCAAACACACTCAGCTTAGCTGGTTAAACTCATATTGAGAGAGGATTAGGAAAAGTCAATCAAGAATAAGGAAGAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAAAAGTATATAAAACAGAGTCAAGGGAAACTGTTGATACTGAAACTAATGGAATGTAAATTTCTGGAAGCTGAGCCCCTCTCACCTTTATATCCCAACAGGACGAGGAACATAGTGGATGATTAGTAACACTGGCTGAAGGAATA... |
Task1_train_29420 | This is a variant in NR0B1 (nuclear receptor subfamily 0 group B member 1), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Congenital adrenal hypoplasia, X-linked | GAGAGGCCACACTCTTAATAGGCATTACCTTTCTCCCAAATATAGGTACATTTGTGTTTCAAACACACTCAGCTTAGCTGGTTAAACTCATATTGAGAGAGGATTAGGAAAAGTCAATCAAGAATAAGGAAGAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAAAAGTATATAAAACAGAGTCAAGGGAAACTGTTGATACTGAAACTAATGGAATGTAAATTTCTGGAAGCTGAGCCCCTCTCACCTTTATATCCCAACAGGACGAGGAACATAGTGGATGATTAGTAACACTGGCTGAAGGAATAA... | GAGAGGCCACACTCTTAATAGGCATTACCTTTCTCCCAAATATAGGTACATTTGTGTTTCAAACACACTCAGCTTAGCTGGTTAAACTCATATTGAGAGAGGATTAGGAAAAGTCAATCAAGAATAAGGAAGAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAAAAGTATATAAAACAGAGTCAAGGGAAACTGTTGATACTGAAACTAATGGAATGTAAATTTCTGGAAGCTGAGCCCCTCTCACCTTTATATCCCAACAGGACGAGGAACATAGTGGATGATTAGTAACACTGGCTGAAGGAATAA... |
Task1_train_29421 | A variant found in Chromosome X affects NR0B1 (nuclear receptor subfamily 0 group B member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Congenital adrenal hypoplasia, X-linked | AGAGGCCACACTCTTAATAGGCATTACCTTTCTCCCAAATATAGGTACATTTGTGTTTCAAACACACTCAGCTTAGCTGGTTAAACTCATATTGAGAGAGGATTAGGAAAAGTCAATCAAGAATAAGGAAGAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAAAAGTATATAAAACAGAGTCAAGGGAAACTGTTGATACTGAAACTAATGGAATGTAAATTTCTGGAAGCTGAGCCCCTCTCACCTTTATATCCCAACAGGACGAGGAACATAGTGGATGATTAGTAACACTGGCTGAAGGAATAAG... | AGAGGCCACACTCTTAATAGGCATTACCTTTCTCCCAAATATAGGTACATTTGTGTTTCAAACACACTCAGCTTAGCTGGTTAAACTCATATTGAGAGAGGATTAGGAAAAGTCAATCAAGAATAAGGAAGAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAAAAGTATATAAAACAGAGTCAAGGGAAACTGTTGATACTGAAACTAATGGAATGTAAATTTCTGGAAGCTGAGCCCCTCTCACCTTTATATCCCAACAGGACGAGGAACATAGTGGATGATTAGTAACACTGGCTGAAGGAATAAG... |
Task1_train_29422 | A sequence alteration has been identified in NR0B1 (nuclear receptor subfamily 0 group B member 1) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Congenital adrenal hypoplasia, X-linked | ACTCAGCTTAGCTGGTTAAACTCATATTGAGAGAGGATTAGGAAAAGTCAATCAAGAATAAGGAAGAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAAAAGTATATAAAACAGAGTCAAGGGAAACTGTTGATACTGAAACTAATGGAATGTAAATTTCTGGAAGCTGAGCCCCTCTCACCTTTATATCCCAACAGGACGAGGAACATAGTGGATGATTAGTAACACTGGCTGAAGGAATAAGAAGACTGTTTTCCAAATAATCTTAAGAATCATCTGCGACACTTATTATGAATGCAGATTTGCAGA... | ACTCAGCTTAGCTGGTTAAACTCATATTGAGAGAGGATTAGGAAAAGTCAATCAAGAATAAGGAAGAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAAAAGTATATAAAACAGAGTCAAGGGAAACTGTTGATACTGAAACTAATGGAATGTAAATTTCTGGAAGCTGAGCCCCTCTCACCTTTATATCCCAACAGGACGAGGAACATAGTGGATGATTAGTAACACTGGCTGAAGGAATAAGAAGACTGTTTTCCAAATAATCTTAAGAATCATCTGCGACACTTATTATGAATGCAGATTTGCAGA... |
Task1_train_29423 | A genomic change on Chromosome X affects NR0B1 (nuclear receptor subfamily 0 group B member 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Congenital adrenal hypoplasia, X-linked | AGGATTAGGAAAAGTCAATCAAGAATAAGGAAGAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAAAAGTATATAAAACAGAGTCAAGGGAAACTGTTGATACTGAAACTAATGGAATGTAAATTTCTGGAAGCTGAGCCCCTCTCACCTTTATATCCCAACAGGACGAGGAACATAGTGGATGATTAGTAACACTGGCTGAAGGAATAAGAAGACTGTTTTCCAAATAATCTTAAGAATCATCTGCGACACTTATTATGAATGCAGATTTGCAGACCCTGGGCCAGAGCTACTGAATCAGAATATATA... | AGGATTAGGAAAAGTCAATCAAGAATAAGGAAGAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAAAAGTATATAAAACAGAGTCAAGGGAAACTGTTGATACTGAAACTAATGGAATGTAAATTTCTGGAAGCTGAGCCCCTCTCACCTTTATATCCCAACAGGACGAGGAACATAGTGGATGATTAGTAACACTGGCTGAAGGAATAAGAAGACTGTTTTCCAAATAATCTTAAGAATCATCTGCGACACTTATTATGAATGCAGATTTGCAGACCCTGGGCCAGAGCTACTGAATCAGAATATATA... |
Task1_train_29424 | This alteration in GK, GK-AS1 (glycerol kinase| GK antisense RNA 1) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Inborn glycerol kinase deficiency | AGTCCTGATCTGATAGTCATGAAGGAGAGCAAGCAACGTTTACCTTTGTAGAAGTTAGAAAAGTGAGACATCTTTCTGCTATGTTTGAACACAGTACAGTGTTCTGTGAGTACAATGTACAATGAGGAAGGCGAGGTAGATCATGTAAATGCTGAAAGCTCCATATGTGCTTGATGACTGGGAAGAAAGAACAATAAAATTTAAGAGGAAAATACTTGCCTGTGTACTGCTTTAAAAGCTGTGGCCTAAGTATAGCAAAGAAGTCTCTTCATATTTGCTAATACTCATTAATTGCTTATTAAGTATACTCACTTAAGAAT... | AGTCCTGATCTGATAGTCATGAAGGAGAGCAAGCAACGTTTACCTTTGTAGAAGTTAGAAAAGTGAGACATCTTTCTGCTATGTTTGAACACAGTACAGTGTTCTGTGAGTACAATGTACAATGAGGAAGGCGAGGTAGATCATGTAAATGCTGAAAGCTCCATATGTGCTTGATGACTGGGAAGAAAGAACAATAAAATTTAAGAGGAAAATACTTGCCTGTGTACTGCTTTAAAAGCTGTGGCCTAAGTATAGCAAAGAAGTCTCTTCATATTTGCTAATACTCATTAATTGCTTATTAAGTATACTCACTTAAGAAT... |
Task1_train_29425 | A variant was discovered on Chromosome X, affecting GK (glycerol kinase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Inborn glycerol kinase deficiency | TTATCTCTGCAAAGTAAATACTTATGCTTTGCCCCAAATGTGATCCATAAATTATATGGATCCCTATTATGAGTTTGACTTATGCAAAAGACTATCTTGTGAAGATTTATAAAACAAGGAATTGACATAATTAGTGGTGGTTGTTAATAAACTGGCAATGTAGGGCATAAAAATTACCCAAGTGTAAAATTGAACACTGGAGATTGCCAGAACCTGCAGATAGAGAAGTTGAGTTAAATTTATCTGATGAGAAAGAGCTTTAACTCTTAGATTAGAGTGAGCATTAAAACTCTGGTACCTATAATTTAAGTATTAATACG... | TTATCTCTGCAAAGTAAATACTTATGCTTTGCCCCAAATGTGATCCATAAATTATATGGATCCCTATTATGAGTTTGACTTATGCAAAAGACTATCTTGTGAAGATTTATAAAACAAGGAATTGACATAATTAGTGGTGGTTGTTAATAAACTGGCAATGTAGGGCATAAAAATTACCCAAGTGTAAAATTGAACACTGGAGATTGCCAGAACCTGCAGATAGAGAAGTTGAGTTAAATTTATCTGATGAGAAAGAGCTTTAACTCTTAGATTAGAGTGAGCATTAAAACTCTGGTACCTATAATTTAAGTATTAATACG... |
Task1_train_29426 | Here is a mutation in GK (glycerol kinase) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Inborn glycerol kinase deficiency | ACAAAAGGAAAAAAAAAGCATCAAAGTGGATTTTGAGGTATTGGGAATAAGCTTTCAAATGCATTTTTGTTTGGTTTTCTGGGAGAATATACCAGTGTTTCTCAATTTTATTCATTCTTTTAACATATAAGAAAATGAATTATAATACTAGTAATTTTATAGTCAGATTATACCATGTACCTTGATTTAGAAATGTATTTCACCATCTGATATTCTGTCATTTTTAACTTTTGCAATACTGGATAAAATATGAAGTTCAAAAAATTTTTCTACTTTTCAAAAAAAATCAACTTTATAATATGCAAATAATGTCCAGAGCG... | ACAAAAGGAAAAAAAAAGCATCAAAGTGGATTTTGAGGTATTGGGAATAAGCTTTCAAATGCATTTTTGTTTGGTTTTCTGGGAGAATATACCAGTGTTTCTCAATTTTATTCATTCTTTTAACATATAAGAAAATGAATTATAATACTAGTAATTTTATAGTCAGATTATACCATGTACCTTGATTTAGAAATGTATTTCACCATCTGATATTCTGTCATTTTTAACTTTTGCAATACTGGATAAAATATGAAGTTCAAAAAATTTTTCTACTTTTCAAAAAAAATCAACTTTATAATATGCAAATAATGTCCAGAGCG... |
Task1_train_29427 | Gene DMD (dystrophin), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Duchenne muscular dystrophy | CTTATAAGGCTTGTAAGGCAATTAGTGGCTGTATTGTGTTGTGGTTTTTTTTTTTTTTTCCCCCTGTGAGATAAAGTTTAACTTTTGGAAAAAGAAATTGTCAAGTGACGTGGGAAAGTGGCAACTGGACATCAGCTTATTTTTCTCTTTTCAGCTAATGTAAATAAAAAGAAAGAAATAGAAGAGACTGTTTGCATTTGGGAGTGAAGGAGGGTGTTCAGCTGAGAGGAGTTCAAATATACATCAAACAAGAGTGTGTTCTGCTTTTGCTACTACTCACGTTTCCATGTTGTCCCCCTCTAAGACAGTCTGCACTGGCA... | CTTATAAGGCTTGTAAGGCAATTAGTGGCTGTATTGTGTTGTGGTTTTTTTTTTTTTTTCCCCCTGTGAGATAAAGTTTAACTTTTGGAAAAAGAAATTGTCAAGTGACGTGGGAAAGTGGCAACTGGACATCAGCTTATTTTTCTCTTTTCAGCTAATGTAAATAAAAAGAAAGAAATAGAAGAGACTGTTTGCATTTGGGAGTGAAGGAGGGTGTTCAGCTGAGAGGAGTTCAAATATACATCAAACAAGAGTGTGTTCTGCTTTTGCTACTACTCACGTTTCCATGTTGTCCCCCTCTAAGACAGTCTGCACTGGCA... |
Task1_train_29428 | A mutation found in DMD (dystrophin) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | CATTTTGTAGAAAATGTCTTTCAAGACATGGAATCAATATGAATGCCCATCAATGAGAAATATGGTACATATACACTATGGAATACCATGCAGCTATAAAAAAGAATGAGATCATGTCTTTTGAACACGGATTAGCTGGAGACTATTATCCTTAGCAAACTAATGCAGAAACAGAAAAGTAAATACTGCATGTTCTCACTTCTAAGTGGAAGCTAAATGATGAGAGCTCACGAACACAAGGGAACAACAGATACTGGGGTCTTGAGGGTGGAGGGTGGAAGGAGGGAGAGGAGCAGAAAAGACAACTGTTGGGTACTGCG... | CATTTTGTAGAAAATGTCTTTCAAGACATGGAATCAATATGAATGCCCATCAATGAGAAATATGGTACATATACACTATGGAATACCATGCAGCTATAAAAAAGAATGAGATCATGTCTTTTGAACACGGATTAGCTGGAGACTATTATCCTTAGCAAACTAATGCAGAAACAGAAAAGTAAATACTGCATGTTCTCACTTCTAAGTGGAAGCTAAATGATGAGAGCTCACGAACACAAGGGAACAACAGATACTGGGGTCTTGAGGGTGGAGGGTGGAAGGAGGGAGAGGAGCAGAAAAGACAACTGTTGGGTACTGCG... |
Task1_train_29429 | This alteration occurs within gene DMD (dystrophin) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Duchenne muscular dystrophy | ATGATTTAGGGTAGCAGTCCCTCTGAAATACACCTGAAGGGGTACTTCAGGCACTTAATATGTGTCTAGCTTATCTCACAATTTGCACAATCACAGAAAATAAATATTATGCAATTTGTTCCTTGAACGACAAAAACGGAACAAATAGATAAGTTAGAATATTTGAGCCTTTAAGTAATTTCATAAATTATTTTATTTAATGGGGAAACAGAGCTATGGTCATTTTAAGTAGTCATCCTAGTTATGGCCCAAACTTGAGCCTAATGACGTATCAGTTCGACCATATCTTTACTGGTAGAACAAAAGGGTAGCATAAAATT... | ATGATTTAGGGTAGCAGTCCCTCTGAAATACACCTGAAGGGGTACTTCAGGCACTTAATATGTGTCTAGCTTATCTCACAATTTGCACAATCACAGAAAATAAATATTATGCAATTTGTTCCTTGAACGACAAAAACGGAACAAATAGATAAGTTAGAATATTTGAGCCTTTAAGTAATTTCATAAATTATTTTATTTAATGGGGAAACAGAGCTATGGTCATTTTAAGTAGTCATCCTAGTTATGGCCCAAACTTGAGCCTAATGACGTATCAGTTCGACCATATCTTTACTGGTAGAACAAAAGGGTAGCATAAAATT... |
Task1_train_29430 | Given a variant located on Chromosome X and affecting DMD (dystrophin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Duchenne muscular dystrophy | GGGATGTGGAATGCTTAGAAAGAGATGTGGTAATGACCTCTAAAACTGAAGACTATATAAATGACCAATTTTAGTTATAAAATTTAGTTTATAAAAATATTTCTCAATCAAATAAGTTAACTGGCATCACTGCCTATGAAACAGACTCTCTACGCACTGACATCCTGGAAGCCTCTAAAGTTAAGGACAAGACTCTAATCTGCAGTAACATTGCTGAGGGACAAGCTGAACCTTTGAGAGAAAGAATCTAATTATCGGAGAGCACACTTTTCAGAATATTACACTTCATAAGCTATGTCATCTTTCAGAAACTCTAAGCA... | GGGATGTGGAATGCTTAGAAAGAGATGTGGTAATGACCTCTAAAACTGAAGACTATATAAATGACCAATTTTAGTTATAAAATTTAGTTTATAAAAATATTTCTCAATCAAATAAGTTAACTGGCATCACTGCCTATGAAACAGACTCTCTACGCACTGACATCCTGGAAGCCTCTAAAGTTAAGGACAAGACTCTAATCTGCAGTAACATTGCTGAGGGACAAGCTGAACCTTTGAGAGAAAGAATCTAATTATCGGAGAGCACACTTTTCAGAATATTACACTTCATAAGCTATGTCATCTTTCAGAAACTCTAAGCA... |
Task1_train_29431 | An alteration has been detected in DMD (dystrophin) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Dilated cardiomyopathy 3B | AAAGTTAGGAGAGCTGAATAAAAGCCATTTGTCTCTGTGATTAAGAATACTTATTTGTTGAATAAATAAATGAAGTTAAAGCAGAGTGATGTGTCTGGGGAGTGAGGGCATGCACGTGTTTTCCATAGGGGACAGTCACCCACATGGCTCTCTCCTCTTATAGAGAACGTTATTTTTCTCTGTAGACCAGCAAGTAAACACTTTAATAAAGCTTTCTGATGGAATCAGATCCAGCCTGTCTTGAGTTCCTTTGAAGTAGAGCAGGTACAGCCTGTAGGGGCAGTGAAAGCTCAGTCCTTTTGACACTTTTGAAATAAATG... | AAAGTTAGGAGAGCTGAATAAAAGCCATTTGTCTCTGTGATTAAGAATACTTATTTGTTGAATAAATAAATGAAGTTAAAGCAGAGTGATGTGTCTGGGGAGTGAGGGCATGCACGTGTTTTCCATAGGGGACAGTCACCCACATGGCTCTCTCCTCTTATAGAGAACGTTATTTTTCTCTGTAGACCAGCAAGTAAACACTTTAATAAAGCTTTCTGATGGAATCAGATCCAGCCTGTCTTGAGTTCCTTTGAAGTAGAGCAGGTACAGCCTGTAGGGGCAGTGAAAGCTCAGTCCTTTTGACACTTTTGAAATAAATG... |
Task1_train_29432 | Located on Chromosome X, this mutation impacts DMD (dystrophin). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Becker muscular dystrophy | TGTATATTGGGTTCCATACAATATTGAAAGGGTGGAAAACTCCACTGAGTCTTCCTCATATAGAAAGTACTAAACATTGCCGAGAATATGACCTGGTTTCAGTGTGACTTTTTCTTATAAATACTACAGAGCCTGCTATACACAAGTTTAAATTAGCAAAATTAAAGGAGAGCATATGAAGAAGCTTGCAGTTATATTTTTCTTACATAGAATATATATTTTAGAATGAATAGATAAAATAATTCACTTAGAATGTATGTATTTCCTTTACGTAGATCCAGAAAAATCTCCCCAAATAGTGTAATTAGCAATTTTCACAG... | TGTATATTGGGTTCCATACAATATTGAAAGGGTGGAAAACTCCACTGAGTCTTCCTCATATAGAAAGTACTAAACATTGCCGAGAATATGACCTGGTTTCAGTGTGACTTTTTCTTATAAATACTACAGAGCCTGCTATACACAAGTTTAAATTAGCAAAATTAAAGGAGAGCATATGAAGAAGCTTGCAGTTATATTTTTCTTACATAGAATATATATTTTAGAATGAATAGATAAAATAATTCACTTAGAATGTATGTATTTCCTTTACGTAGATCCAGAAAAATCTCCCCAAATAGTGTAATTAGCAATTTTCACAG... |
Task1_train_29433 | This sequence variant lies in DMD (dystrophin) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Becker muscular dystrophy | GACATTCCTAATTGTGCCAACGACAATCGCTATGGAACAGAGAGTTCAACCATTTTTTTCTTTAGATAAAGAATATGAACATCTGCCAAATACAAAAAGAAGGGGGAGATGATTCATGAAAGAACATTAAACAACTGTGAAGAACCTCTTGAAAAGTAACCATGTAATACATAAAGAGAGTTACTGATGATTCATCCAATATGACAGGAGAGAGTATATAAATGAGGATATTTTGACAGAGAAAGAGTGGGTCAGGGACAGATAAAACAGGGCAATTTGGGTATGTTTACTGTATTACCTACAAATGTATTCAGAAATCA... | GACATTCCTAATTGTGCCAACGACAATCGCTATGGAACAGAGAGTTCAACCATTTTTTTCTTTAGATAAAGAATATGAACATCTGCCAAATACAAAAAGAAGGGGGAGATGATTCATGAAAGAACATTAAACAACTGTGAAGAACCTCTTGAAAAGTAACCATGTAATACATAAAGAGAGTTACTGATGATTCATCCAATATGACAGGAGAGAGTATATAAATGAGGATATTTTGACAGAGAAAGAGTGGGTCAGGGACAGATAAAACAGGGCAATTTGGGTATGTTTACTGTATTACCTACAAATGTATTCAGAAATCA... |
Task1_train_29434 | A variant was discovered in gene DMD (dystrophin), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Duchenne muscular dystrophy | AGAATATGAACATCTGCCAAATACAAAAAGAAGGGGGAGATGATTCATGAAAGAACATTAAACAACTGTGAAGAACCTCTTGAAAAGTAACCATGTAATACATAAAGAGAGTTACTGATGATTCATCCAATATGACAGGAGAGAGTATATAAATGAGGATATTTTGACAGAGAAAGAGTGGGTCAGGGACAGATAAAACAGGGCAATTTGGGTATGTTTACTGTATTACCTACAAATGTATTCAGAAATCATTAAATAGAATATTAACAAATATAGAGTGGGAACATGCTTGCAGGATTGAAGTCTTCCACTTGAAGGGA... | AGAATATGAACATCTGCCAAATACAAAAAGAAGGGGGAGATGATTCATGAAAGAACATTAAACAACTGTGAAGAACCTCTTGAAAAGTAACCATGTAATACATAAAGAGAGTTACTGATGATTCATCCAATATGACAGGAGAGAGTATATAAATGAGGATATTTTGACAGAGAAAGAGTGGGTCAGGGACAGATAAAACAGGGCAATTTGGGTATGTTTACTGTATTACCTACAAATGTATTCAGAAATCATTAAATAGAATATTAACAAATATAGAGTGGGAACATGCTTGCAGGATTGAAGTCTTCCACTTGAAGGGA... |
Task1_train_29435 | Chromosome X houses a mutation in gene DMD (dystrophin). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Duchenne muscular dystrophy | GCCATGTGTAAATGTTTGGTGATTTTTCCCTACCACTAGCTTACCTTATACTGGCCAATCTCATGGATATTTTGTTTGATATTTTTTTCTTTAATGCTATTACTAATTAGGTTCATTTTGTCTTAGCGTCTATGTATGTATATGCATAAATGCAAATCATGTGGATTTTTTAATTTTGCCGAAATTAGTGGTTTTTTCTTTATATCAAATGGGTAGTGTGCCAACATCATAAGTTTAGAGAAAGGCTTATCTCATATCTGAGTATAAACACCCAAATCATGCTTATGAATTACGAAAGGATCTGAAATTCATTATCTTAA... | GCCATGTGTAAATGTTTGGTGATTTTTCCCTACCACTAGCTTACCTTATACTGGCCAATCTCATGGATATTTTGTTTGATATTTTTTTCTTTAATGCTATTACTAATTAGGTTCATTTTGTCTTAGCGTCTATGTATGTATATGCATAAATGCAAATCATGTGGATTTTTTAATTTTGCCGAAATTAGTGGTTTTTTCTTTATATCAAATGGGTAGTGTGCCAACATCATAAGTTTAGAGAAAGGCTTATCTCATATCTGAGTATAAACACCCAAATCATGCTTATGAATTACGAAAGGATCTGAAATTCATTATCTTAA... |
Task1_train_29436 | The gene CFAP47 (cilia and flagella associated protein 47) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Spermatogenic failure, X-linked, 3 | AATACTAAAGGTTACAACCATGCTCCATATGGGTCCATCATTAAATCAGTATTCTTAGTCAAGGGTCACTTGCAGATCTTGTCTTATTTGCAGAGTAGAAGTGACAGATGACAGATGAATCCTGAGCCAGTTCAGGTCATTAGTCCCAAACATATATCTCATCAGCTGTACTCAAGTAATTTATCATTTGGTATTTCCCAGAAATAAACAGAAATTGATGGGGGTCCTTTTCAAAGGCTTTAAATTGCATTTTTATAATACGTGAGATTTGAAATGTAGGACTTCTAGACCACAAAACTGCCAGAATGAAAGAAGGCAGT... | AATACTAAAGGTTACAACCATGCTCCATATGGGTCCATCATTAAATCAGTATTCTTAGTCAAGGGTCACTTGCAGATCTTGTCTTATTTGCAGAGTAGAAGTGACAGATGACAGATGAATCCTGAGCCAGTTCAGGTCATTAGTCCCAAACATATATCTCATCAGCTGTACTCAAGTAATTTATCATTTGGTATTTCCCAGAAATAAACAGAAATTGATGGGGGTCCTTTTCAAAGGCTTTAAATTGCATTTTTATAATACGTGAGATTTGAAATGTAGGACTTCTAGACCACAAAACTGCCAGAATGAAAGAAGGCAGT... |
Task1_train_29437 | This variant affects the gene CXorf30, CFAP47 (chromosome X open reading frame 30| cilia and flagella associated protein 47) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Spermatogenic failure, X-linked, 3 | TTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAATGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAACTTGGTTCCATTCTCCCCGTCACTTTCAGGTACACCAATCAGATGTAGATTTGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGTTCATTTCTTTTTATTCTTTTTTCTCTAAACTTCCCTT... | TTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAATGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAACTTGGTTCCATTCTCCCCGTCACTTTCAGGTACACCAATCAGATGTAGATTTGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGTTCATTTCTTTTTATTCTTTTTTCTCTAAACTTCCCTT... |
Task1_train_29438 | Here’s a variant in CXorf30, CFAP47 (chromosome X open reading frame 30| cilia and flagella associated protein 47) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Spermatogenic failure, X-linked, 3 | TGTTTACCTTCTCCTGTTAAAATTATAGTCTGTTAATATTTACCATATTAAAAATTATTTTTGTGTGTTTTACAGGAATTGCACTGCCTCCTAAAGGAAATATAGATATCTCATTGTTATTTATACCTCAAATTATGAAATTACACAAAACAATGGTTATTATTGAGATGACGAAAGCAAATGGAAAATATTGGCCTATTGACAATTTTGATGAGTTGGATATAAAATTTAAAAGGTAACATTTAAATAAAGACATTGAAGGAAAATAATTTTATTTTGACAGCCACTGACATGCTAGGTTTCTTTTACATGTTATACAT... | TGTTTACCTTCTCCTGTTAAAATTATAGTCTGTTAATATTTACCATATTAAAAATTATTTTTGTGTGTTTTACAGGAATTGCACTGCCTCCTAAAGGAAATATAGATATCTCATTGTTATTTATACCTCAAATTATGAAATTACACAAAACAATGGTTATTATTGAGATGACGAAAGCAAATGGAAAATATTGGCCTATTGACAATTTTGATGAGTTGGATATAAAATTTAAAAGGTAACATTTAAATAAAGACATTGAAGGAAAATAATTTTATTTTGACAGCCACTGACATGCTAGGTTTCTTTTACATGTTATACAT... |
Task1_train_29439 | The gene XK (X-linked Kx blood group antigen, Kell and VPS13A binding protein) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; McLeod neuroacanthocytosis syndrome | ATGAATAGGTGGAGAACAGAGGATTTTTACACAGTGAAACTACTCTGTATGATACTGTAATGGTGGCTACATGTCATTATACATTTGTCCAATGTGTAATGTCCAATGCACCCATAGGATGTACAATGCCAAGAGTGAGCCCTAATGTAAATGTAAACTTTGGATGATAATGATCTGTCAGTATAGGTTCATCAGTTGTAAAAAAATGTACCACTCTGGTGGGGGATGTTGATAATGGGGGTTGTTGATAATGCTTGTGTGGGGTCAGGGAATATATGGGAAATCTCTGTACCTTCTGCTCAACTTTACTGTGAACCTAA... | ATGAATAGGTGGAGAACAGAGGATTTTTACACAGTGAAACTACTCTGTATGATACTGTAATGGTGGCTACATGTCATTATACATTTGTCCAATGTGTAATGTCCAATGCACCCATAGGATGTACAATGCCAAGAGTGAGCCCTAATGTAAATGTAAACTTTGGATGATAATGATCTGTCAGTATAGGTTCATCAGTTGTAAAAAAATGTACCACTCTGGTGGGGGATGTTGATAATGGGGGTTGTTGATAATGCTTGTGTGGGGTCAGGGAATATATGGGAAATCTCTGTACCTTCTGCTCAACTTTACTGTGAACCTAA... |
Task1_train_29440 | Consider a variant on Chromosome X in gene CYBB (cytochrome b-245 beta chain). Determine its clinical classification and disease relevance. | Pathogenic; Granulomatous disease, chronic, X-linked | GTCTACTACACGCCTAGGCTACATGGTATAGCCTATGGCTGCTAGGCTACAAACCTTATCGTTTTTTATTGTACTGAATACTGTCAGAGATTCTAACACAATGGTATCTAACCATAGTTAACCATAGAAAATAGACAATAAAAATAAAGTATAAAAGATTAAAAATGGTACACCTGTATAAGGCACTTACCATGAGTAGAGCTTGGAGAACTAGAAGTTACTCTATGTGTCAGTGAGTGAGTGGTGAATGGATAGGAAGGCCTAGAACATTTTTGTACACTCCTATAGATTTTATGAACACTGTACACTTAGGCTATACT... | GTCTACTACACGCCTAGGCTACATGGTATAGCCTATGGCTGCTAGGCTACAAACCTTATCGTTTTTTATTGTACTGAATACTGTCAGAGATTCTAACACAATGGTATCTAACCATAGTTAACCATAGAAAATAGACAATAAAAATAAAGTATAAAAGATTAAAAATGGTACACCTGTATAAGGCACTTACCATGAGTAGAGCTTGGAGAACTAGAAGTTACTCTATGTGTCAGTGAGTGAGTGGTGAATGGATAGGAAGGCCTAGAACATTTTTGTACACTCCTATAGATTTTATGAACACTGTACACTTAGGCTATACT... |
Task1_train_29441 | This gene mutation involves CYBB (cytochrome b-245 beta chain) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Granulomatous disease, chronic, X-linked | CTACTACACGCCTAGGCTACATGGTATAGCCTATGGCTGCTAGGCTACAAACCTTATCGTTTTTTATTGTACTGAATACTGTCAGAGATTCTAACACAATGGTATCTAACCATAGTTAACCATAGAAAATAGACAATAAAAATAAAGTATAAAAGATTAAAAATGGTACACCTGTATAAGGCACTTACCATGAGTAGAGCTTGGAGAACTAGAAGTTACTCTATGTGTCAGTGAGTGAGTGGTGAATGGATAGGAAGGCCTAGAACATTTTTGTACACTCCTATAGATTTTATGAACACTGTACACTTAGGCTATACTAA... | CTACTACACGCCTAGGCTACATGGTATAGCCTATGGCTGCTAGGCTACAAACCTTATCGTTTTTTATTGTACTGAATACTGTCAGAGATTCTAACACAATGGTATCTAACCATAGTTAACCATAGAAAATAGACAATAAAAATAAAGTATAAAAGATTAAAAATGGTACACCTGTATAAGGCACTTACCATGAGTAGAGCTTGGAGAACTAGAAGTTACTCTATGTGTCAGTGAGTGAGTGGTGAATGGATAGGAAGGCCTAGAACATTTTTGTACACTCCTATAGATTTTATGAACACTGTACACTTAGGCTATACTAA... |
Task1_train_29442 | A variant was discovered on Chromosome X, affecting CYBB (cytochrome b-245 beta chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Granulomatous disease, chronic, X-linked | ACACAACACATTCAACCTCTGCCACCATGGGGAACTGGGCTGTGAATGAGGGGCTCTCCATTTTTGTCATTGTAAGTACCAACAAGAGATAAGTTATAAATTCTCTGACTTCTCGGGGTTATCTTGGAACTAAAATAGACCAAAGCTTTTTTGTTCATTTGAGGAATTGTGTTGAAACTGATTTACCATGTGAACCTATATCTATCTGTAAACAGACTGAGTCCATTCTTCCAAATTCCTTAATGGAAAGAACATATCTGGGGGCTCACTTCTAGCTTACTTCTGAATTCCTAGGAGGAATAAATTAGCCAGCATTTCGC... | ACACAACACATTCAACCTCTGCCACCATGGGGAACTGGGCTGTGAATGAGGGGCTCTCCATTTTTGTCATTGTAAGTACCAACAAGAGATAAGTTATAAATTCTCTGACTTCTCGGGGTTATCTTGGAACTAAAATAGACCAAAGCTTTTTTGTTCATTTGAGGAATTGTGTTGAAACTGATTTACCATGTGAACCTATATCTATCTGTAAACAGACTGAGTCCATTCTTCCAAATTCCTTAATGGAAAGAACATATCTGGGGGCTCACTTCTAGCTTACTTCTGAATTCCTAGGAGGAATAAATTAGCCAGCATTTCGC... |
Task1_train_29443 | This variant lies on Chromosome X and affects the gene CYBB (cytochrome b-245 beta chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Granulomatous disease, chronic, X-linked | ACCACTTGATCCAGTCAGTGCTTAGGATAAAATGAACTGTCATGATCTAGAAAGCTGTTTTTGTTGTAAATCCCAAGCCCCTCACTATGCTCAATATTCTCTCCTTGAAGCATTAAGTAAAACTAATCAAGGAAAATGGAAGGCTTGGCATTTTAGCTGATGAGAATTCACTAGCTGGATTACTGTGTGGTAGAGGGAGGTGATTAGCACCTGTGAGAACAGAACGCAGTGTCATACTGGTGGAGGGAAAGCAATAGTAATATGTTCCCTTCCTTTCTCATTTTAAGTGGAGTGGCCTGCTATCAGCTACCTATCCAAGG... | ACCACTTGATCCAGTCAGTGCTTAGGATAAAATGAACTGTCATGATCTAGAAAGCTGTTTTTGTTGTAAATCCCAAGCCCCTCACTATGCTCAATATTCTCTCCTTGAAGCATTAAGTAAAACTAATCAAGGAAAATGGAAGGCTTGGCATTTTAGCTGATGAGAATTCACTAGCTGGATTACTGTGTGGTAGAGGGAGGTGATTAGCACCTGTGAGAACAGAACGCAGTGTCATACTGGTGGAGGGAAAGCAATAGTAATATGTTCCCTTCCTTTCTCATTTTAAGTGGAGTGGCCTGCTATCAGCTACCTATCCAAGG... |
Task1_train_29444 | A variant has been detected on Chromosome X in CYBB (cytochrome b-245 beta chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Granulomatous disease, chronic, X-linked | CTTAGGATAAAATGAACTGTCATGATCTAGAAAGCTGTTTTTGTTGTAAATCCCAAGCCCCTCACTATGCTCAATATTCTCTCCTTGAAGCATTAAGTAAAACTAATCAAGGAAAATGGAAGGCTTGGCATTTTAGCTGATGAGAATTCACTAGCTGGATTACTGTGTGGTAGAGGGAGGTGATTAGCACCTGTGAGAACAGAACGCAGTGTCATACTGGTGGAGGGAAAGCAATAGTAATATGTTCCCTTCCTTTCTCATTTTAAGTGGAGTGGCCTGCTATCAGCTACCTATCCAAGGTTAAGCAAAAGAGAGGGGAA... | CTTAGGATAAAATGAACTGTCATGATCTAGAAAGCTGTTTTTGTTGTAAATCCCAAGCCCCTCACTATGCTCAATATTCTCTCCTTGAAGCATTAAGTAAAACTAATCAAGGAAAATGGAAGGCTTGGCATTTTAGCTGATGAGAATTCACTAGCTGGATTACTGTGTGGTAGAGGGAGGTGATTAGCACCTGTGAGAACAGAACGCAGTGTCATACTGGTGGAGGGAAAGCAATAGTAATATGTTCCCTTCCTTTCTCATTTTAAGTGGAGTGGCCTGCTATCAGCTACCTATCCAAGGTTAAGCAAAAGAGAGGGGAA... |
Task1_train_29445 | With a mutation on Chromosome X in gene CYBB (cytochrome b-245 beta chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Granulomatous disease, chronic, X-linked | TGGGGCAAGCCTGAAATCCCAGGGGATTGATGTCCTGAGAGCATCCCTCAGAGCAGCCCTCAGCCAATCATGGATGGCAGTTGGTGGTTGAACACCCAAGCTTCTTAACCCGTTAGGTAAAAACCAAAGAACGAAACAAACAAAGTAAATGAATAAAAAACCCTTTGGGATAAGTTCTACACAGTCTCCCAGAGTTCCCTGGTGTGATCGAGCCCAATGATATGATATGATCATGGTAGCTGATATAATAATGCACTCTTCATTAATTTCCTTCCCAGTCTCATTTTTACCCTCGTTTTCTATGACCACCTTCCGGATAG... | TGGGGCAAGCCTGAAATCCCAGGGGATTGATGTCCTGAGAGCATCCCTCAGAGCAGCCCTCAGCCAATCATGGATGGCAGTTGGTGGTTGAACACCCAAGCTTCTTAACCCGTTAGGTAAAAACCAAAGAACGAAACAAACAAAGTAAATGAATAAAAAACCCTTTGGGATAAGTTCTACACAGTCTCCCAGAGTTCCCTGGTGTGATCGAGCCCAATGATATGATATGATCATGGTAGCTGATATAATAATGCACTCTTCATTAATTTCCTTCCCAGTCTCATTTTTACCCTCGTTTTCTATGACCACCTTCCGGATAG... |
Task1_train_29446 | A mutation found in CYBB (cytochrome b-245 beta chain) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Granulomatous disease, chronic, X-linked | ATGTTTTTTGTACAAGTTTATATTTTTATACAGTTAAGCAATGGATTCCAGAGGAGACTTTATGTCACCAGTATGAGAACAGAAAACATACCAGTTAAGCCAGCCATGTCACTTACTGGCTGTTTGACCTGAGGAAGATGACTGCATCTCTCTGAACCTCAGTTTCCTCATTTATCAAATAGATATAATGATACAGTTTGCAGGGTGGTCATGAAAATTAAATGAGATAATATGTATCAAATGTTTGACACATAGCAAGCTTTCCTGTTAACAATTACTATTCCATTCTTTCCCCCTTAATCCAAAGTGCTGCTCAACAA... | ATGTTTTTTGTACAAGTTTATATTTTTATACAGTTAAGCAATGGATTCCAGAGGAGACTTTATGTCACCAGTATGAGAACAGAAAACATACCAGTTAAGCCAGCCATGTCACTTACTGGCTGTTTGACCTGAGGAAGATGACTGCATCTCTCTGAACCTCAGTTTCCTCATTTATCAAATAGATATAATGATACAGTTTGCAGGGTGGTCATGAAAATTAAATGAGATAATATGTATCAAATGTTTGACACATAGCAAGCTTTCCTGTTAACAATTACTATTCCATTCTTTCCCCCTTAATCCAAAGTGCTGCTCAACAA... |
Task1_train_29447 | Here is a genetic alteration in CYBB (cytochrome b-245 beta chain) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Granulomatous disease, chronic, X-linked | AACAGAAAACATACCAGTTAAGCCAGCCATGTCACTTACTGGCTGTTTGACCTGAGGAAGATGACTGCATCTCTCTGAACCTCAGTTTCCTCATTTATCAAATAGATATAATGATACAGTTTGCAGGGTGGTCATGAAAATTAAATGAGATAATATGTATCAAATGTTTGACACATAGCAAGCTTTCCTGTTAACAATTACTATTCCATTCTTTCCCCCTTAATCCAAAGTGCTGCTCAACAAGAGTTCGAAGACAACTGGACAGGAATCTCACCTTTCATAAAATGGTGGCATGGATGATTGCACTTCACTCTGGTAAG... | AACAGAAAACATACCAGTTAAGCCAGCCATGTCACTTACTGGCTGTTTGACCTGAGGAAGATGACTGCATCTCTCTGAACCTCAGTTTCCTCATTTATCAAATAGATATAATGATACAGTTTGCAGGGTGGTCATGAAAATTAAATGAGATAATATGTATCAAATGTTTGACACATAGCAAGCTTTCCTGTTAACAATTACTATTCCATTCTTTCCCCCTTAATCCAAAGTGCTGCTCAACAAGAGTTCGAAGACAACTGGACAGGAATCTCACCTTTCATAAAATGGTGGCATGGATGATTGCACTTCACTCTGGTAAG... |
Task1_train_29448 | A variant was discovered in gene CYBB (cytochrome b-245 beta chain), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency | AATGGGAGTATAGAAAAAAATGTCTCCCACACTCCTCACCTCATGTGTGGAGGTCTCTAGATGTTTTCCAGGTCTTTAAGCTCATCCATGAGAATGTGTGCATGTGAAGCCTGGAGTAACTCAGGCTTACCTGTGACTATGCCCACCAGTCAAAGAAAGCTGGGAACACATGTCTAGTCGAACAAGGTTTGGTTTATTACTTGCTACAGCAAAAGAAATCTCACACCTTGAGGAACTCTGGGCATCTCAAGGGGATGTAAAGTGGATTTAGAATTTAGGATTCTGTTAGATGGTTTGGGGGAGGATTTAAGAATGCAAGG... | AATGGGAGTATAGAAAAAAATGTCTCCCACACTCCTCACCTCATGTGTGGAGGTCTCTAGATGTTTTCCAGGTCTTTAAGCTCATCCATGAGAATGTGTGCATGTGAAGCCTGGAGTAACTCAGGCTTACCTGTGACTATGCCCACCAGTCAAAGAAAGCTGGGAACACATGTCTAGTCGAACAAGGTTTGGTTTATTACTTGCTACAGCAAAAGAAATCTCACACCTTGAGGAACTCTGGGCATCTCAAGGGGATGTAAAGTGGATTTAGAATTTAGGATTCTGTTAGATGGTTTGGGGGAGGATTTAAGAATGCAAGG... |
Task1_train_29449 | A variant on Chromosome X in gene CYBB (cytochrome b-245 beta chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Granulomatous disease, chronic, X-linked | ATGTGTGCATGTGAAGCCTGGAGTAACTCAGGCTTACCTGTGACTATGCCCACCAGTCAAAGAAAGCTGGGAACACATGTCTAGTCGAACAAGGTTTGGTTTATTACTTGCTACAGCAAAAGAAATCTCACACCTTGAGGAACTCTGGGCATCTCAAGGGGATGTAAAGTGGATTTAGAATTTAGGATTCTGTTAGATGGTTTGGGGGAGGATTTAAGAATGCAAGGATTTTCTCTGGATCAGTTATGGTCAGGAATTGGGGGTAGTTCTCAGATAAGGTATCTTAATTATTTTTTCTAGGAGGCAGAGGGAACAGAATA... | ATGTGTGCATGTGAAGCCTGGAGTAACTCAGGCTTACCTGTGACTATGCCCACCAGTCAAAGAAAGCTGGGAACACATGTCTAGTCGAACAAGGTTTGGTTTATTACTTGCTACAGCAAAAGAAATCTCACACCTTGAGGAACTCTGGGCATCTCAAGGGGATGTAAAGTGGATTTAGAATTTAGGATTCTGTTAGATGGTTTGGGGGAGGATTTAAGAATGCAAGGATTTTCTCTGGATCAGTTATGGTCAGGAATTGGGGGTAGTTCTCAGATAAGGTATCTTAATTATTTTTTCTAGGAGGCAGAGGGAACAGAATA... |
Task1_train_29450 | A mutation on Chromosome X affecting CYBB (cytochrome b-245 beta chain) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Granulomatous disease, chronic, X-linked | TGACTATGCCCACCAGTCAAAGAAAGCTGGGAACACATGTCTAGTCGAACAAGGTTTGGTTTATTACTTGCTACAGCAAAAGAAATCTCACACCTTGAGGAACTCTGGGCATCTCAAGGGGATGTAAAGTGGATTTAGAATTTAGGATTCTGTTAGATGGTTTGGGGGAGGATTTAAGAATGCAAGGATTTTCTCTGGATCAGTTATGGTCAGGAATTGGGGGTAGTTCTCAGATAAGGTATCTTAATTATTTTTTCTAGGAGGCAGAGGGAACAGAATAGGACTAAGTCTATAATAGGCAAAGAAGCAGTAGTCATTGT... | TGACTATGCCCACCAGTCAAAGAAAGCTGGGAACACATGTCTAGTCGAACAAGGTTTGGTTTATTACTTGCTACAGCAAAAGAAATCTCACACCTTGAGGAACTCTGGGCATCTCAAGGGGATGTAAAGTGGATTTAGAATTTAGGATTCTGTTAGATGGTTTGGGGGAGGATTTAAGAATGCAAGGATTTTCTCTGGATCAGTTATGGTCAGGAATTGGGGGTAGTTCTCAGATAAGGTATCTTAATTATTTTTTCTAGGAGGCAGAGGGAACAGAATAGGACTAAGTCTATAATAGGCAAAGAAGCAGTAGTCATTGT... |
Task1_train_29451 | A mutation found in CYBB (cytochrome b-245 beta chain) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Granulomatous disease, chronic, X-linked | GACTATGCCCACCAGTCAAAGAAAGCTGGGAACACATGTCTAGTCGAACAAGGTTTGGTTTATTACTTGCTACAGCAAAAGAAATCTCACACCTTGAGGAACTCTGGGCATCTCAAGGGGATGTAAAGTGGATTTAGAATTTAGGATTCTGTTAGATGGTTTGGGGGAGGATTTAAGAATGCAAGGATTTTCTCTGGATCAGTTATGGTCAGGAATTGGGGGTAGTTCTCAGATAAGGTATCTTAATTATTTTTTCTAGGAGGCAGAGGGAACAGAATAGGACTAAGTCTATAATAGGCAAAGAAGCAGTAGTCATTGTC... | GACTATGCCCACCAGTCAAAGAAAGCTGGGAACACATGTCTAGTCGAACAAGGTTTGGTTTATTACTTGCTACAGCAAAAGAAATCTCACACCTTGAGGAACTCTGGGCATCTCAAGGGGATGTAAAGTGGATTTAGAATTTAGGATTCTGTTAGATGGTTTGGGGGAGGATTTAAGAATGCAAGGATTTTCTCTGGATCAGTTATGGTCAGGAATTGGGGGTAGTTCTCAGATAAGGTATCTTAATTATTTTTTCTAGGAGGCAGAGGGAACAGAATAGGACTAAGTCTATAATAGGCAAAGAAGCAGTAGTCATTGTC... |
Task1_train_29452 | Gene CYBB (cytochrome b-245 beta chain), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency | CCTGGCTATGTGGTTAGGAGAGTTTGCCTGATTGGAGATCCTCTTTCATACCAAGTTTCCTTTTTTGTGCAGTTTCATACCACCTGCACACAAAGGCAGGCCTGGGGAAGTTCCCTGGTGGGTATAGGGCTCCAGGAAATTAGGGTTGGAGGAAGTAGAAGCTCAAGACTCACTCTGCCCAGAGCCCAGTTGGTGGCCAAGACATGACTGTGAAAAAGGGGAAGGGTGGGGAAAGCTGCATTGGGCACTGCATTCTTAAACTACTTGCTGACTGTGACCCCTGATAAACTCTTTGTAAGCATGGAGAAATCAATGGAGAC... | CCTGGCTATGTGGTTAGGAGAGTTTGCCTGATTGGAGATCCTCTTTCATACCAAGTTTCCTTTTTTGTGCAGTTTCATACCACCTGCACACAAAGGCAGGCCTGGGGAAGTTCCCTGGTGGGTATAGGGCTCCAGGAAATTAGGGTTGGAGGAAGTAGAAGCTCAAGACTCACTCTGCCCAGAGCCCAGTTGGTGGCCAAGACATGACTGTGAAAAAGGGGAAGGGTGGGGAAAGCTGCATTGGGCACTGCATTCTTAAACTACTTGCTGACTGTGACCCCTGATAAACTCTTTGTAAGCATGGAGAAATCAATGGAGAC... |
Task1_train_29453 | A change on Chromosome X affects gene CYBB (cytochrome b-245 beta chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Granulomatous disease, chronic, X-linked, variant | CCTCTTTCATACCAAGTTTCCTTTTTTGTGCAGTTTCATACCACCTGCACACAAAGGCAGGCCTGGGGAAGTTCCCTGGTGGGTATAGGGCTCCAGGAAATTAGGGTTGGAGGAAGTAGAAGCTCAAGACTCACTCTGCCCAGAGCCCAGTTGGTGGCCAAGACATGACTGTGAAAAAGGGGAAGGGTGGGGAAAGCTGCATTGGGCACTGCATTCTTAAACTACTTGCTGACTGTGACCCCTGATAAACTCTTTGTAAGCATGGAGAAATCAATGGAGACCAAGAATCTGATGACTCTCTTAAAGCACTCAAATATCTT... | CCTCTTTCATACCAAGTTTCCTTTTTTGTGCAGTTTCATACCACCTGCACACAAAGGCAGGCCTGGGGAAGTTCCCTGGTGGGTATAGGGCTCCAGGAAATTAGGGTTGGAGGAAGTAGAAGCTCAAGACTCACTCTGCCCAGAGCCCAGTTGGTGGCCAAGACATGACTGTGAAAAAGGGGAAGGGTGGGGAAAGCTGCATTGGGCACTGCATTCTTAAACTACTTGCTGACTGTGACCCCTGATAAACTCTTTGTAAGCATGGAGAAATCAATGGAGACCAAGAATCTGATGACTCTCTTAAAGCACTCAAATATCTT... |
Task1_train_29454 | A variant found in Chromosome X affects CYBB (cytochrome b-245 beta chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Granulomatous disease, chronic, X-linked, variant | TGTGTATGTAATAATCTAATAGGAAAGTTGAAGTGCCCAAAATTTCAACAAGTTAGTAAATAAGCTGCCTCTCAAATTTGCTCTCCTAATTCCAAGTCTAGAGTGGCTTTTCCTGAACTCTAATCTGTTTCTCATCACAAAATAAATAAATATCCAACTAAATAAATGTAAATGGAACTCCTTGTTATAATTTCAGGAAACACTAGGAAAGTCTATCTTTATCAAATAAAATTTAATTCAATTCAACTCAGTTCAAAAAGTATTTGCCAAAACCCTACTGTGGGTTATTTTTGCAAAACACACAAATTCTTCCTGTCCTC... | TGTGTATGTAATAATCTAATAGGAAAGTTGAAGTGCCCAAAATTTCAACAAGTTAGTAAATAAGCTGCCTCTCAAATTTGCTCTCCTAATTCCAAGTCTAGAGTGGCTTTTCCTGAACTCTAATCTGTTTCTCATCACAAAATAAATAAATATCCAACTAAATAAATGTAAATGGAACTCCTTGTTATAATTTCAGGAAACACTAGGAAAGTCTATCTTTATCAAATAAAATTTAATTCAATTCAACTCAGTTCAAAAAGTATTTGCCAAAACCCTACTGTGGGTTATTTTTGCAAAACACACAAATTCTTCCTGTCCTC... |
Task1_train_29455 | Given a variant located on Chromosome X and affecting CYBB (cytochrome b-245 beta chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | TGTGTATGTAATAATCTAATAGGAAAGTTGAAGTGCCCAAAATTTCAACAAGTTAGTAAATAAGCTGCCTCTCAAATTTGCTCTCCTAATTCCAAGTCTAGAGTGGCTTTTCCTGAACTCTAATCTGTTTCTCATCACAAAATAAATAAATATCCAACTAAATAAATGTAAATGGAACTCCTTGTTATAATTTCAGGAAACACTAGGAAAGTCTATCTTTATCAAATAAAATTTAATTCAATTCAACTCAGTTCAAAAAGTATTTGCCAAAACCCTACTGTGGGTTATTTTTGCAAAACACACAAATTCTTCCTGTCCTC... | TGTGTATGTAATAATCTAATAGGAAAGTTGAAGTGCCCAAAATTTCAACAAGTTAGTAAATAAGCTGCCTCTCAAATTTGCTCTCCTAATTCCAAGTCTAGAGTGGCTTTTCCTGAACTCTAATCTGTTTCTCATCACAAAATAAATAAATATCCAACTAAATAAATGTAAATGGAACTCCTTGTTATAATTTCAGGAAACACTAGGAAAGTCTATCTTTATCAAATAAAATTTAATTCAATTCAACTCAGTTCAAAAAGTATTTGCCAAAACCCTACTGTGGGTTATTTTTGCAAAACACACAAATTCTTCCTGTCCTC... |
Task1_train_29456 | Chromosome X houses a mutation in gene CYBB (cytochrome b-245 beta chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Granulomatous disease, chronic, X-linked | TATGTAATAATCTAATAGGAAAGTTGAAGTGCCCAAAATTTCAACAAGTTAGTAAATAAGCTGCCTCTCAAATTTGCTCTCCTAATTCCAAGTCTAGAGTGGCTTTTCCTGAACTCTAATCTGTTTCTCATCACAAAATAAATAAATATCCAACTAAATAAATGTAAATGGAACTCCTTGTTATAATTTCAGGAAACACTAGGAAAGTCTATCTTTATCAAATAAAATTTAATTCAATTCAACTCAGTTCAAAAAGTATTTGCCAAAACCCTACTGTGGGTTATTTTTGCAAAACACACAAATTCTTCCTGTCCTCCACC... | TATGTAATAATCTAATAGGAAAGTTGAAGTGCCCAAAATTTCAACAAGTTAGTAAATAAGCTGCCTCTCAAATTTGCTCTCCTAATTCCAAGTCTAGAGTGGCTTTTCCTGAACTCTAATCTGTTTCTCATCACAAAATAAATAAATATCCAACTAAATAAATGTAAATGGAACTCCTTGTTATAATTTCAGGAAACACTAGGAAAGTCTATCTTTATCAAATAAAATTTAATTCAATTCAACTCAGTTCAAAAAGTATTTGCCAAAACCCTACTGTGGGTTATTTTTGCAAAACACACAAATTCTTCCTGTCCTCCACC... |
Task1_train_29457 | This alteration in CYBB (cytochrome b-245 beta chain) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Granulomatous disease, chronic, X-linked | ATAGGAAAGTTGAAGTGCCCAAAATTTCAACAAGTTAGTAAATAAGCTGCCTCTCAAATTTGCTCTCCTAATTCCAAGTCTAGAGTGGCTTTTCCTGAACTCTAATCTGTTTCTCATCACAAAATAAATAAATATCCAACTAAATAAATGTAAATGGAACTCCTTGTTATAATTTCAGGAAACACTAGGAAAGTCTATCTTTATCAAATAAAATTTAATTCAATTCAACTCAGTTCAAAAAGTATTTGCCAAAACCCTACTGTGGGTTATTTTTGCAAAACACACAAATTCTTCCTGTCCTCCACCCTATCTTTCCTCAT... | ATAGGAAAGTTGAAGTGCCCAAAATTTCAACAAGTTAGTAAATAAGCTGCCTCTCAAATTTGCTCTCCTAATTCCAAGTCTAGAGTGGCTTTTCCTGAACTCTAATCTGTTTCTCATCACAAAATAAATAAATATCCAACTAAATAAATGTAAATGGAACTCCTTGTTATAATTTCAGGAAACACTAGGAAAGTCTATCTTTATCAAATAAAATTTAATTCAATTCAACTCAGTTCAAAAAGTATTTGCCAAAACCCTACTGTGGGTTATTTTTGCAAAACACACAAATTCTTCCTGTCCTCCACCCTATCTTTCCTCAT... |
Task1_train_29458 | A variant was discovered in gene CYBB (cytochrome b-245 beta chain), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Granulomatous disease, chronic, X-linked | AATAAGCTGCCTCTCAAATTTGCTCTCCTAATTCCAAGTCTAGAGTGGCTTTTCCTGAACTCTAATCTGTTTCTCATCACAAAATAAATAAATATCCAACTAAATAAATGTAAATGGAACTCCTTGTTATAATTTCAGGAAACACTAGGAAAGTCTATCTTTATCAAATAAAATTTAATTCAATTCAACTCAGTTCAAAAAGTATTTGCCAAAACCCTACTGTGGGTTATTTTTGCAAAACACACAAATTCTTCCTGTCCTCCACCCTATCTTTCCTCATTTGCTGTCTATGGTGGGTCATAGTAAAGTTAGTTCAGCTG... | AATAAGCTGCCTCTCAAATTTGCTCTCCTAATTCCAAGTCTAGAGTGGCTTTTCCTGAACTCTAATCTGTTTCTCATCACAAAATAAATAAATATCCAACTAAATAAATGTAAATGGAACTCCTTGTTATAATTTCAGGAAACACTAGGAAAGTCTATCTTTATCAAATAAAATTTAATTCAATTCAACTCAGTTCAAAAAGTATTTGCCAAAACCCTACTGTGGGTTATTTTTGCAAAACACACAAATTCTTCCTGTCCTCCACCCTATCTTTCCTCATTTGCTGTCTATGGTGGGTCATAGTAAAGTTAGTTCAGCTG... |
Task1_train_29459 | This sequence change occurs on Chromosome X, altering CYBB (cytochrome b-245 beta chain). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Granulomatous disease, chronic, X-linked | GCTTTTCCTGAACTCTAATCTGTTTCTCATCACAAAATAAATAAATATCCAACTAAATAAATGTAAATGGAACTCCTTGTTATAATTTCAGGAAACACTAGGAAAGTCTATCTTTATCAAATAAAATTTAATTCAATTCAACTCAGTTCAAAAAGTATTTGCCAAAACCCTACTGTGGGTTATTTTTGCAAAACACACAAATTCTTCCTGTCCTCCACCCTATCTTTCCTCATTTGCTGTCTATGGTGGGTCATAGTAAAGTTAGTTCAGCTGGCTTTGGAAGTCTTGAAATATAGGAAACCACAACAGTTCTCCTTTTG... | GCTTTTCCTGAACTCTAATCTGTTTCTCATCACAAAATAAATAAATATCCAACTAAATAAATGTAAATGGAACTCCTTGTTATAATTTCAGGAAACACTAGGAAAGTCTATCTTTATCAAATAAAATTTAATTCAATTCAACTCAGTTCAAAAAGTATTTGCCAAAACCCTACTGTGGGTTATTTTTGCAAAACACACAAATTCTTCCTGTCCTCCACCCTATCTTTCCTCATTTGCTGTCTATGGTGGGTCATAGTAAAGTTAGTTCAGCTGGCTTTGGAAGTCTTGAAATATAGGAAACCACAACAGTTCTCCTTTTG... |
Task1_train_29460 | Gene CYBB (cytochrome b-245 beta chain) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Granulomatous disease, chronic, X-linked | TTTTCCTGAACTCTAATCTGTTTCTCATCACAAAATAAATAAATATCCAACTAAATAAATGTAAATGGAACTCCTTGTTATAATTTCAGGAAACACTAGGAAAGTCTATCTTTATCAAATAAAATTTAATTCAATTCAACTCAGTTCAAAAAGTATTTGCCAAAACCCTACTGTGGGTTATTTTTGCAAAACACACAAATTCTTCCTGTCCTCCACCCTATCTTTCCTCATTTGCTGTCTATGGTGGGTCATAGTAAAGTTAGTTCAGCTGGCTTTGGAAGTCTTGAAATATAGGAAACCACAACAGTTCTCCTTTTGTG... | TTTTCCTGAACTCTAATCTGTTTCTCATCACAAAATAAATAAATATCCAACTAAATAAATGTAAATGGAACTCCTTGTTATAATTTCAGGAAACACTAGGAAAGTCTATCTTTATCAAATAAAATTTAATTCAATTCAACTCAGTTCAAAAAGTATTTGCCAAAACCCTACTGTGGGTTATTTTTGCAAAACACACAAATTCTTCCTGTCCTCCACCCTATCTTTCCTCATTTGCTGTCTATGGTGGGTCATAGTAAAGTTAGTTCAGCTGGCTTTGGAAGTCTTGAAATATAGGAAACCACAACAGTTCTCCTTTTGTG... |
Task1_train_29461 | The following genetic variant occurs in CYBB (cytochrome b-245 beta chain) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Granulomatous disease, chronic, X-linked | TTCCTGAACTCTAATCTGTTTCTCATCACAAAATAAATAAATATCCAACTAAATAAATGTAAATGGAACTCCTTGTTATAATTTCAGGAAACACTAGGAAAGTCTATCTTTATCAAATAAAATTTAATTCAATTCAACTCAGTTCAAAAAGTATTTGCCAAAACCCTACTGTGGGTTATTTTTGCAAAACACACAAATTCTTCCTGTCCTCCACCCTATCTTTCCTCATTTGCTGTCTATGGTGGGTCATAGTAAAGTTAGTTCAGCTGGCTTTGGAAGTCTTGAAATATAGGAAACCACAACAGTTCTCCTTTTGTGAT... | TTCCTGAACTCTAATCTGTTTCTCATCACAAAATAAATAAATATCCAACTAAATAAATGTAAATGGAACTCCTTGTTATAATTTCAGGAAACACTAGGAAAGTCTATCTTTATCAAATAAAATTTAATTCAATTCAACTCAGTTCAAAAAGTATTTGCCAAAACCCTACTGTGGGTTATTTTTGCAAAACACACAAATTCTTCCTGTCCTCCACCCTATCTTTCCTCATTTGCTGTCTATGGTGGGTCATAGTAAAGTTAGTTCAGCTGGCTTTGGAAGTCTTGAAATATAGGAAACCACAACAGTTCTCCTTTTGTGAT... |
Task1_train_29462 | The gene CYBB (cytochrome b-245 beta chain), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Granulomatous disease, chronic, X-linked, variant | AGTTGATGGACATTTGGATTGTTTCCTGTTTTTTGCTATTATGAATAAAGCTGTTATAAACGTGTGTACGTAGACAGATGAGGATGGCAATGGGTGGGTAGAAAAGATGGTGTACTCCCCAGGTAGGGAGAAATGTAGAAATAACGCATGGAATCAGGCAGATTCAAGGTGTGATTCAGGACAAAGATAGACCAACTTAGTTAGTCTTGTTTTGGGGAATGTTGCTACATAACTAGTCAATGGGATCTCCTTCTTCTGGCCAGCTATTAGGTTGGTGCAAAAGTTATTGCGGTTTTTGCCATTAAAATATGGCAAAACTG... | AGTTGATGGACATTTGGATTGTTTCCTGTTTTTTGCTATTATGAATAAAGCTGTTATAAACGTGTGTACGTAGACAGATGAGGATGGCAATGGGTGGGTAGAAAAGATGGTGTACTCCCCAGGTAGGGAGAAATGTAGAAATAACGCATGGAATCAGGCAGATTCAAGGTGTGATTCAGGACAAAGATAGACCAACTTAGTTAGTCTTGTTTTGGGGAATGTTGCTACATAACTAGTCAATGGGATCTCCTTCTTCTGGCCAGCTATTAGGTTGGTGCAAAAGTTATTGCGGTTTTTGCCATTAAAATATGGCAAAACTG... |
Task1_train_29463 | Assess the clinical impact of this variant on gene CYBB (cytochrome b-245 beta chain), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Granulomatous disease, chronic, X-linked | TAAACGTGTGTACGTAGACAGATGAGGATGGCAATGGGTGGGTAGAAAAGATGGTGTACTCCCCAGGTAGGGAGAAATGTAGAAATAACGCATGGAATCAGGCAGATTCAAGGTGTGATTCAGGACAAAGATAGACCAACTTAGTTAGTCTTGTTTTGGGGAATGTTGCTACATAACTAGTCAATGGGATCTCCTTCTTCTGGCCAGCTATTAGGTTGGTGCAAAAGTTATTGCGGTTTTTGCCATTAAAATATGGCAAAACTGCAATAATTTTTGCACCAACCTAATACTAAGGCCCTCTCTCATCCTCTTGGGGGATA... | TAAACGTGTGTACGTAGACAGATGAGGATGGCAATGGGTGGGTAGAAAAGATGGTGTACTCCCCAGGTAGGGAGAAATGTAGAAATAACGCATGGAATCAGGCAGATTCAAGGTGTGATTCAGGACAAAGATAGACCAACTTAGTTAGTCTTGTTTTGGGGAATGTTGCTACATAACTAGTCAATGGGATCTCCTTCTTCTGGCCAGCTATTAGGTTGGTGCAAAAGTTATTGCGGTTTTTGCCATTAAAATATGGCAAAACTGCAATAATTTTTGCACCAACCTAATACTAAGGCCCTCTCTCATCCTCTTGGGGGATA... |
Task1_train_29464 | The gene CYBB (cytochrome b-245 beta chain), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | AAACGTGTGTACGTAGACAGATGAGGATGGCAATGGGTGGGTAGAAAAGATGGTGTACTCCCCAGGTAGGGAGAAATGTAGAAATAACGCATGGAATCAGGCAGATTCAAGGTGTGATTCAGGACAAAGATAGACCAACTTAGTTAGTCTTGTTTTGGGGAATGTTGCTACATAACTAGTCAATGGGATCTCCTTCTTCTGGCCAGCTATTAGGTTGGTGCAAAAGTTATTGCGGTTTTTGCCATTAAAATATGGCAAAACTGCAATAATTTTTGCACCAACCTAATACTAAGGCCCTCTCTCATCCTCTTGGGGGATAG... | AAACGTGTGTACGTAGACAGATGAGGATGGCAATGGGTGGGTAGAAAAGATGGTGTACTCCCCAGGTAGGGAGAAATGTAGAAATAACGCATGGAATCAGGCAGATTCAAGGTGTGATTCAGGACAAAGATAGACCAACTTAGTTAGTCTTGTTTTGGGGAATGTTGCTACATAACTAGTCAATGGGATCTCCTTCTTCTGGCCAGCTATTAGGTTGGTGCAAAAGTTATTGCGGTTTTTGCCATTAAAATATGGCAAAACTGCAATAATTTTTGCACCAACCTAATACTAAGGCCCTCTCTCATCCTCTTGGGGGATAG... |
Task1_train_29465 | A variant affecting Chromosome X, within the gene CYBB (cytochrome b-245 beta chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Granulomatous disease, chronic, X-linked | TGAGGATGGCAATGGGTGGGTAGAAAAGATGGTGTACTCCCCAGGTAGGGAGAAATGTAGAAATAACGCATGGAATCAGGCAGATTCAAGGTGTGATTCAGGACAAAGATAGACCAACTTAGTTAGTCTTGTTTTGGGGAATGTTGCTACATAACTAGTCAATGGGATCTCCTTCTTCTGGCCAGCTATTAGGTTGGTGCAAAAGTTATTGCGGTTTTTGCCATTAAAATATGGCAAAACTGCAATAATTTTTGCACCAACCTAATACTAAGGCCCTCTCTCATCCTCTTGGGGGATAGGAAGGCTGAGCAGGAAACATC... | TGAGGATGGCAATGGGTGGGTAGAAAAGATGGTGTACTCCCCAGGTAGGGAGAAATGTAGAAATAACGCATGGAATCAGGCAGATTCAAGGTGTGATTCAGGACAAAGATAGACCAACTTAGTTAGTCTTGTTTTGGGGAATGTTGCTACATAACTAGTCAATGGGATCTCCTTCTTCTGGCCAGCTATTAGGTTGGTGCAAAAGTTATTGCGGTTTTTGCCATTAAAATATGGCAAAACTGCAATAATTTTTGCACCAACCTAATACTAAGGCCCTCTCTCATCCTCTTGGGGGATAGGAAGGCTGAGCAGGAAACATC... |
Task1_train_29466 | This sequence variant lies in CYBB (cytochrome b-245 beta chain) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Granulomatous disease, chronic, X-linked | TGAGGATGGCAATGGGTGGGTAGAAAAGATGGTGTACTCCCCAGGTAGGGAGAAATGTAGAAATAACGCATGGAATCAGGCAGATTCAAGGTGTGATTCAGGACAAAGATAGACCAACTTAGTTAGTCTTGTTTTGGGGAATGTTGCTACATAACTAGTCAATGGGATCTCCTTCTTCTGGCCAGCTATTAGGTTGGTGCAAAAGTTATTGCGGTTTTTGCCATTAAAATATGGCAAAACTGCAATAATTTTTGCACCAACCTAATACTAAGGCCCTCTCTCATCCTCTTGGGGGATAGGAAGGCTGAGCAGGAAACATC... | TGAGGATGGCAATGGGTGGGTAGAAAAGATGGTGTACTCCCCAGGTAGGGAGAAATGTAGAAATAACGCATGGAATCAGGCAGATTCAAGGTGTGATTCAGGACAAAGATAGACCAACTTAGTTAGTCTTGTTTTGGGGAATGTTGCTACATAACTAGTCAATGGGATCTCCTTCTTCTGGCCAGCTATTAGGTTGGTGCAAAAGTTATTGCGGTTTTTGCCATTAAAATATGGCAAAACTGCAATAATTTTTGCACCAACCTAATACTAAGGCCCTCTCTCATCCTCTTGGGGGATAGGAAGGCTGAGCAGGAAACATC... |
Task1_train_29467 | Consider a variant on Chromosome X in gene CYBB (cytochrome b-245 beta chain). Determine its clinical classification and disease relevance. | Pathogenic; not provided | TTACAGATGAAAAAACTCAGACCAGGTTAGGTCATTTTCCTAAGAGCACCCAACAAGTAAGTGACAGAGACAGAATGTGCCAGAGCCTGTCCTTTCAGCATCTTGCAGTAGTTCATGATTATCATTTATAAATAAATTACTATATATCTAATGAATGTGATATATATGCATGTATGTGTGTGTGTATGTGTGTGTACAATGAGAGTGCTCTTTCAAAAATGTTTGGAGACCACTATAATAAAGTAGCCAATAGTTCTCAACTGGGACAATTTTGCTCTGCTCCTCCCCAAGACACACACCAGAGACAGTTGGCAATGTAA... | TTACAGATGAAAAAACTCAGACCAGGTTAGGTCATTTTCCTAAGAGCACCCAACAAGTAAGTGACAGAGACAGAATGTGCCAGAGCCTGTCCTTTCAGCATCTTGCAGTAGTTCATGATTATCATTTATAAATAAATTACTATATATCTAATGAATGTGATATATATGCATGTATGTGTGTGTGTATGTGTGTGTACAATGAGAGTGCTCTTTCAAAAATGTTTGGAGACCACTATAATAAAGTAGCCAATAGTTCTCAACTGGGACAATTTTGCTCTGCTCCTCCCCAAGACACACACCAGAGACAGTTGGCAATGTAA... |
Task1_train_29468 | Given this context: Chromosome X, gene CYBB (cytochrome b-245 beta chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Granulomatous disease, chronic, X-linked | TACAGATGAAAAAACTCAGACCAGGTTAGGTCATTTTCCTAAGAGCACCCAACAAGTAAGTGACAGAGACAGAATGTGCCAGAGCCTGTCCTTTCAGCATCTTGCAGTAGTTCATGATTATCATTTATAAATAAATTACTATATATCTAATGAATGTGATATATATGCATGTATGTGTGTGTGTATGTGTGTGTACAATGAGAGTGCTCTTTCAAAAATGTTTGGAGACCACTATAATAAAGTAGCCAATAGTTCTCAACTGGGACAATTTTGCTCTGCTCCTCCCCAAGACACACACCAGAGACAGTTGGCAATGTAAA... | TACAGATGAAAAAACTCAGACCAGGTTAGGTCATTTTCCTAAGAGCACCCAACAAGTAAGTGACAGAGACAGAATGTGCCAGAGCCTGTCCTTTCAGCATCTTGCAGTAGTTCATGATTATCATTTATAAATAAATTACTATATATCTAATGAATGTGATATATATGCATGTATGTGTGTGTGTATGTGTGTGTACAATGAGAGTGCTCTTTCAAAAATGTTTGGAGACCACTATAATAAAGTAGCCAATAGTTCTCAACTGGGACAATTTTGCTCTGCTCCTCCCCAAGACACACACCAGAGACAGTTGGCAATGTAAA... |
Task1_train_29469 | Given this variant in gene CYBB (cytochrome b-245 beta chain) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Granulomatous disease, chronic, X-linked | ACAGATGAAAAAACTCAGACCAGGTTAGGTCATTTTCCTAAGAGCACCCAACAAGTAAGTGACAGAGACAGAATGTGCCAGAGCCTGTCCTTTCAGCATCTTGCAGTAGTTCATGATTATCATTTATAAATAAATTACTATATATCTAATGAATGTGATATATATGCATGTATGTGTGTGTGTATGTGTGTGTACAATGAGAGTGCTCTTTCAAAAATGTTTGGAGACCACTATAATAAAGTAGCCAATAGTTCTCAACTGGGACAATTTTGCTCTGCTCCTCCCCAAGACACACACCAGAGACAGTTGGCAATGTAAAT... | ACAGATGAAAAAACTCAGACCAGGTTAGGTCATTTTCCTAAGAGCACCCAACAAGTAAGTGACAGAGACAGAATGTGCCAGAGCCTGTCCTTTCAGCATCTTGCAGTAGTTCATGATTATCATTTATAAATAAATTACTATATATCTAATGAATGTGATATATATGCATGTATGTGTGTGTGTATGTGTGTGTACAATGAGAGTGCTCTTTCAAAAATGTTTGGAGACCACTATAATAAAGTAGCCAATAGTTCTCAACTGGGACAATTTTGCTCTGCTCCTCCCCAAGACACACACCAGAGACAGTTGGCAATGTAAAT... |
Task1_train_29470 | This sequence variant lies in CYBB (cytochrome b-245 beta chain) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Granulomatous disease, chronic, X-linked | CCCAACAAGTAAGTGACAGAGACAGAATGTGCCAGAGCCTGTCCTTTCAGCATCTTGCAGTAGTTCATGATTATCATTTATAAATAAATTACTATATATCTAATGAATGTGATATATATGCATGTATGTGTGTGTGTATGTGTGTGTACAATGAGAGTGCTCTTTCAAAAATGTTTGGAGACCACTATAATAAAGTAGCCAATAGTTCTCAACTGGGACAATTTTGCTCTGCTCCTCCCCAAGACACACACCAGAGACAGTTGGCAATGTAAATATCCTACAATTAAAAAGACAGCCCCCCACAACAAAGAATTATACAG... | CCCAACAAGTAAGTGACAGAGACAGAATGTGCCAGAGCCTGTCCTTTCAGCATCTTGCAGTAGTTCATGATTATCATTTATAAATAAATTACTATATATCTAATGAATGTGATATATATGCATGTATGTGTGTGTGTATGTGTGTGTACAATGAGAGTGCTCTTTCAAAAATGTTTGGAGACCACTATAATAAAGTAGCCAATAGTTCTCAACTGGGACAATTTTGCTCTGCTCCTCCCCAAGACACACACCAGAGACAGTTGGCAATGTAAATATCCTACAATTAAAAAGACAGCCCCCCACAACAAAGAATTATACAG... |
Task1_train_29471 | This sequence change occurs on Chromosome X, altering CYBB (cytochrome b-245 beta chain). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Granulomatous disease, chronic, X-linked | AAAAGCCATGCACAGGTTTCTTTTTTAAATCAGTTATTTATTTGTATTGAAAAAGTAATTATTTTGCTTTGCAAAACTGATATCTATAGAATTATTAAATTGGAGTGCCCACCTTTCTTAACCTCCTCTATGACCATCATCCATCTAGTGAATTTCAAATCTGATTTGCTTTTTAAAAATAAATTTAATTAACCACTTTTATGAAAAATACCTGTTGCTCAAACTGAAGCCTCCTAGAATGGTAGCAGAAAAACAGTATGTGACTATATACACATATGTGCGTGCACACACACACATACACACACACTAGCTTTAGGCTT... | AAAAGCCATGCACAGGTTTCTTTTTTAAATCAGTTATTTATTTGTATTGAAAAAGTAATTATTTTGCTTTGCAAAACTGATATCTATAGAATTATTAAATTGGAGTGCCCACCTTTCTTAACCTCCTCTATGACCATCATCCATCTAGTGAATTTCAAATCTGATTTGCTTTTTAAAAATAAATTTAATTAACCACTTTTATGAAAAATACCTGTTGCTCAAACTGAAGCCTCCTAGAATGGTAGCAGAAAAACAGTATGTGACTATATACACATATGTGCGTGCACACACACACATACACACACACTAGCTTTAGGCTT... |
Task1_train_29472 | This mutation is located in gene CYBB (cytochrome b-245 beta chain) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Granulomatous disease, chronic, X-linked | ATTAAATTGGAGTGCCCACCTTTCTTAACCTCCTCTATGACCATCATCCATCTAGTGAATTTCAAATCTGATTTGCTTTTTAAAAATAAATTTAATTAACCACTTTTATGAAAAATACCTGTTGCTCAAACTGAAGCCTCCTAGAATGGTAGCAGAAAAACAGTATGTGACTATATACACATATGTGCGTGCACACACACACATACACACACACTAGCTTTAGGCTTGATTTGATGTCTTATGCTACCAAAGTATTGCTGCATTTTAGTCTAAAATTGTTACATCTCTTAGTAATTCTCCCAAAGGAGTGGAAGTATATT... | ATTAAATTGGAGTGCCCACCTTTCTTAACCTCCTCTATGACCATCATCCATCTAGTGAATTTCAAATCTGATTTGCTTTTTAAAAATAAATTTAATTAACCACTTTTATGAAAAATACCTGTTGCTCAAACTGAAGCCTCCTAGAATGGTAGCAGAAAAACAGTATGTGACTATATACACATATGTGCGTGCACACACACACATACACACACACTAGCTTTAGGCTTGATTTGATGTCTTATGCTACCAAAGTATTGCTGCATTTTAGTCTAAAATTGTTACATCTCTTAGTAATTCTCCCAAAGGAGTGGAAGTATATT... |
Task1_train_29473 | A variant affecting Chromosome X, within the gene RPGR (retinitis pigmentosa GTPase regulator), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Retinitis pigmentosa | GGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCACTTTGTAGATTTTTGCAAAAAGAACACATAAAAGGTGAAAGACAATACTTTCTTTAAAATGTGAATGCCTCAATTGAGTTTTAGAATACCATCCATTATTAGAAAATTATTCTATACAGTAGGTAAACTGTAATCACTAACTTAAAAAAAGTGCTAACATATTTATAAGAAATTAGA... | GGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCACTTTGTAGATTTTTGCAAAAAGAACACATAAAAGGTGAAAGACAATACTTTCTTTAAAATGTGAATGCCTCAATTGAGTTTTAGAATACCATCCATTATTAGAAAATTATTCTATACAGTAGGTAAACTGTAATCACTAACTTAAAAAAAGTGCTAACATATTTATAAGAAATTAGA... |
Task1_train_29474 | This variant lies on Chromosome X and affects the gene RPGR (retinitis pigmentosa GTPase regulator). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; X-linked cone-rod dystrophy | TTTAAGCTGGGAAACAACTGGGTCACCTTTGGGGACTTCTGGTTTAAGACGGCAAAGTGACTGCATACTAAGCAAATCCAAGAGAACTGAAAAATCATCAGAAAGAATAATATAATTCAGTAAGGTGGCAAGTATAAAAATCGATTTACAAAAATAAGTAGATTCCCTGTAAATATGTAAGTAAGTGCTATTCAGTGTTTGGACTCTTTAGACTACCTTTTTTTTTTTTTCTTTTTTTTTTTGAGATGGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGG... | TTTAAGCTGGGAAACAACTGGGTCACCTTTGGGGACTTCTGGTTTAAGACGGCAAAGTGACTGCATACTAAGCAAATCCAAGAGAACTGAAAAATCATCAGAAAGAATAATATAATTCAGTAAGGTGGCAAGTATAAAAATCGATTTACAAAAATAAGTAGATTCCCTGTAAATATGTAAGTAAGTGCTATTCAGTGTTTGGACTCTTTAGACTACCTTTTTTTTTTTTTCTTTTTTTTTTTGAGATGGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGG... |
Task1_train_29475 | The gene RPGR (retinitis pigmentosa GTPase regulator) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Primary ciliary dyskinesia | ATAATTCAGTAAGGTGGCAAGTATAAAAATCGATTTACAAAAATAAGTAGATTCCCTGTAAATATGTAAGTAAGTGCTATTCAGTGTTTGGACTCTTTAGACTACCTTTTTTTTTTTTTCTTTTTTTTTTTGAGATGGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTCAATAGCTGATATTACAGGCACGCGCTGCCATGCTGGCTAATTTTTGAATATAGTAGAGATGGGGTTTCACCATGTTGACCA... | ATAATTCAGTAAGGTGGCAAGTATAAAAATCGATTTACAAAAATAAGTAGATTCCCTGTAAATATGTAAGTAAGTGCTATTCAGTGTTTGGACTCTTTAGACTACCTTTTTTTTTTTTTCTTTTTTTTTTTGAGATGGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTCAATAGCTGATATTACAGGCACGCGCTGCCATGCTGGCTAATTTTTGAATATAGTAGAGATGGGGTTTCACCATGTTGACCA... |
Task1_train_29476 | Gene RPGR (retinitis pigmentosa GTPase regulator) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Retinitis pigmentosa 3 | TGAATTTTCAGATAATGTGTAAAAATTAATTTCAAAGTTTAATTTTTAGAATATTTTCGAAATTATATAAAATTCACTTTTTCAGCAGGAATTCAAAAACATCTTAAACCTCAGAATTATTTCCAAATTTAGAGTATAAGTTTTGAAAAAAAATTATTTCTAACTTAGAAAAGATTCCATCTAGAAACTAAAGCTTAATAACCACGACTGGGGCTAGAACAGGAAGCTGAGGAAAAGTAACATCAGAGAAAAAAACATAAAGATAAAATATTATTCACTTACCTGGCAACATTAGGCATATCATCTTAGAATTGGATATT... | TGAATTTTCAGATAATGTGTAAAAATTAATTTCAAAGTTTAATTTTTAGAATATTTTCGAAATTATATAAAATTCACTTTTTCAGCAGGAATTCAAAAACATCTTAAACCTCAGAATTATTTCCAAATTTAGAGTATAAGTTTTGAAAAAAAATTATTTCTAACTTAGAAAAGATTCCATCTAGAAACTAAAGCTTAATAACCACGACTGGGGCTAGAACAGGAAGCTGAGGAAAAGTAACATCAGAGAAAAAAACATAAAGATAAAATATTATTCACTTACCTGGCAACATTAGGCATATCATCTTAGAATTGGATATT... |
Task1_train_29477 | The variant affects gene RPGR (retinitis pigmentosa GTPase regulator), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Retinitis pigmentosa | CTATACTACTGTACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAACAAGAAAAAATGTGGTACTTATGCACAATAGAGTACTATTCAGCCATGAAAAAGAATGAGATCCGGTCATTTGCAATAACGTGGATGGAACTGGAAGTCATTACGTTAAATGAAATAAAACAGGCACAGAAAGACATACACTGCGTGTTCTCACTTATTTGTGGGATGTAAAAATCAAAAGAAACTCATGGAAATAAAGAGTAGAAGGATTGTTACCAAAGGCTAGAAAGGGTAGTGGGGTGTGTGTAGGAGGGAGGTTAATGGGTC... | CTATACTACTGTACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAACAAGAAAAAATGTGGTACTTATGCACAATAGAGTACTATTCAGCCATGAAAAAGAATGAGATCCGGTCATTTGCAATAACGTGGATGGAACTGGAAGTCATTACGTTAAATGAAATAAAACAGGCACAGAAAGACATACACTGCGTGTTCTCACTTATTTGTGGGATGTAAAAATCAAAAGAAACTCATGGAAATAAAGAGTAGAAGGATTGTTACCAAAGGCTAGAAAGGGTAGTGGGGTGTGTGTAGGAGGGAGGTTAATGGGTC... |
Task1_train_29478 | The following genetic variant occurs in RPGR (retinitis pigmentosa GTPase regulator) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | GTACTATTCAGCCATGAAAAAGAATGAGATCCGGTCATTTGCAATAACGTGGATGGAACTGGAAGTCATTACGTTAAATGAAATAAAACAGGCACAGAAAGACATACACTGCGTGTTCTCACTTATTTGTGGGATGTAAAAATCAAAAGAAACTCATGGAAATAAAGAGTAGAAGGATTGTTACCAAAGGCTAGAAAGGGTAGTGGGGTGTGTGTAGGAGGGAGGTTAATGGGTCCAAAAATTAGAAATAATAATTTCTAGTATTTGATAGCACAACAGGATGATTACAATCAAAATAATTGTACATTTTAAAATAACTA... | GTACTATTCAGCCATGAAAAAGAATGAGATCCGGTCATTTGCAATAACGTGGATGGAACTGGAAGTCATTACGTTAAATGAAATAAAACAGGCACAGAAAGACATACACTGCGTGTTCTCACTTATTTGTGGGATGTAAAAATCAAAAGAAACTCATGGAAATAAAGAGTAGAAGGATTGTTACCAAAGGCTAGAAAGGGTAGTGGGGTGTGTGTAGGAGGGAGGTTAATGGGTCCAAAAATTAGAAATAATAATTTCTAGTATTTGATAGCACAACAGGATGATTACAATCAAAATAATTGTACATTTTAAAATAACTA... |
Task1_train_29479 | Chromosome X houses a mutation in gene RPGR (retinitis pigmentosa GTPase regulator). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Primary ciliary dyskinesia | TATTTCCTCTAGGTGTTTTTACTGTTGAAAAATCCCATCAATTAGATGGAAAGTCATAATCACACTTCCTCTATTATTACTAGTGTAGATAGATATAGACTATAACAGCTAGAGCCCAACATTTCCAATATTTTAACTAAGACAGAAAAGGTTGCCAGTGGGTCCAGGAAAGGGAGAAGTTGGGAATGCTGAGAAAGTCCCACCAAAGGAAACTATATCCCATGCTGAGCTCTCTATATTCACCTAAAAAGTGATCATGTCAGACAGAGTTTGAAATTATGAACTCTTATTATATAAATGGGGAAATACTGTGACCTAAA... | TATTTCCTCTAGGTGTTTTTACTGTTGAAAAATCCCATCAATTAGATGGAAAGTCATAATCACACTTCCTCTATTATTACTAGTGTAGATAGATATAGACTATAACAGCTAGAGCCCAACATTTCCAATATTTTAACTAAGACAGAAAAGGTTGCCAGTGGGTCCAGGAAAGGGAGAAGTTGGGAATGCTGAGAAAGTCCCACCAAAGGAAACTATATCCCATGCTGAGCTCTCTATATTCACCTAAAAAGTGATCATGTCAGACAGAGTTTGAAATTATGAACTCTTATTATATAAATGGGGAAATACTGTGACCTAAA... |
Task1_train_29480 | A sequence alteration has been identified in RPGR (retinitis pigmentosa GTPase regulator) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Retinitis pigmentosa | TATTTCCTCTAGGTGTTTTTACTGTTGAAAAATCCCATCAATTAGATGGAAAGTCATAATCACACTTCCTCTATTATTACTAGTGTAGATAGATATAGACTATAACAGCTAGAGCCCAACATTTCCAATATTTTAACTAAGACAGAAAAGGTTGCCAGTGGGTCCAGGAAAGGGAGAAGTTGGGAATGCTGAGAAAGTCCCACCAAAGGAAACTATATCCCATGCTGAGCTCTCTATATTCACCTAAAAAGTGATCATGTCAGACAGAGTTTGAAATTATGAACTCTTATTATATAAATGGGGAAATACTGTGACCTAAA... | TATTTCCTCTAGGTGTTTTTACTGTTGAAAAATCCCATCAATTAGATGGAAAGTCATAATCACACTTCCTCTATTATTACTAGTGTAGATAGATATAGACTATAACAGCTAGAGCCCAACATTTCCAATATTTTAACTAAGACAGAAAAGGTTGCCAGTGGGTCCAGGAAAGGGAGAAGTTGGGAATGCTGAGAAAGTCCCACCAAAGGAAACTATATCCCATGCTGAGCTCTCTATATTCACCTAAAAAGTGATCATGTCAGACAGAGTTTGAAATTATGAACTCTTATTATATAAATGGGGAAATACTGTGACCTAAA... |
Task1_train_29481 | This alteration occurs within gene RPGR (retinitis pigmentosa GTPase regulator) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Primary ciliary dyskinesia | AATTAGATGGAAAGTCATAATCACACTTCCTCTATTATTACTAGTGTAGATAGATATAGACTATAACAGCTAGAGCCCAACATTTCCAATATTTTAACTAAGACAGAAAAGGTTGCCAGTGGGTCCAGGAAAGGGAGAAGTTGGGAATGCTGAGAAAGTCCCACCAAAGGAAACTATATCCCATGCTGAGCTCTCTATATTCACCTAAAAAGTGATCATGTCAGACAGAGTTTGAAATTATGAACTCTTATTATATAAATGGGGAAATACTGTGACCTAAAACAGACCAAAATAATTTCATTACATGGACAACCATGGCA... | AATTAGATGGAAAGTCATAATCACACTTCCTCTATTATTACTAGTGTAGATAGATATAGACTATAACAGCTAGAGCCCAACATTTCCAATATTTTAACTAAGACAGAAAAGGTTGCCAGTGGGTCCAGGAAAGGGAGAAGTTGGGAATGCTGAGAAAGTCCCACCAAAGGAAACTATATCCCATGCTGAGCTCTCTATATTCACCTAAAAAGTGATCATGTCAGACAGAGTTTGAAATTATGAACTCTTATTATATAAATGGGGAAATACTGTGACCTAAAACAGACCAAAATAATTTCATTACATGGACAACCATGGCA... |
Task1_train_29482 | The gene RPGR (retinitis pigmentosa GTPase regulator) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Retinitis pigmentosa 3 | CATGGAAAAGAAAACGTCAATAGACTATAGAGTCCCCCTTTTTATGAGACAGGTCAGTGTATAGCAGCGATTTCCTCTATTAACAGTGAAGAAAGTTGAAAGCTATCACTATCCTATTATTTGGGAGACAACTTCATTTCATCGTCAAAATAAAGCAAAACAAGCAAGGCCACATATTTTTGTGAGATTTTAGAAATCAATCTAGAATGTAACTAGCAACTGAAATGAACAGAATGCATGGAACGTATTTATTTCTTGCTAATATAGCACTTTATTAATTCAGAGTAAAAACAAGGAAAGTAACTTCCAAACTAGTTTAA... | CATGGAAAAGAAAACGTCAATAGACTATAGAGTCCCCCTTTTTATGAGACAGGTCAGTGTATAGCAGCGATTTCCTCTATTAACAGTGAAGAAAGTTGAAAGCTATCACTATCCTATTATTTGGGAGACAACTTCATTTCATCGTCAAAATAAAGCAAAACAAGCAAGGCCACATATTTTTGTGAGATTTTAGAAATCAATCTAGAATGTAACTAGCAACTGAAATGAACAGAATGCATGGAACGTATTTATTTCTTGCTAATATAGCACTTTATTAATTCAGAGTAAAAACAAGGAAAGTAACTTCCAAACTAGTTTAA... |
Task1_train_29483 | This is a variant in RPGR (retinitis pigmentosa GTPase regulator), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Primary ciliary dyskinesia | AAAGGCAAACGTGTACTAGCCATTGACATTTTAAAAAACCCTAATTTTACTGTTGCCAAAGTATAATCTCTATTAATTTTACAAAGCCACGTTACTGGAATGAGACCTCAGTTCTCAAAGTCAGGCAGGAAATCATACAGGTTGAGCACTATACCTGTTGACACCAGGGTGTGGTTCCTTCCACAGGCAGCTAATTTCACTTTTTCAGGTTTTAGAGCTAAAAATATTTAAAATGGGACAATTATTTTATAGCAATGAAAATGAACAGTAGTCCAGGACAAATGGTAACTAAGTGATAGAACCGAGATTTAATAGCGGGC... | AAAGGCAAACGTGTACTAGCCATTGACATTTTAAAAAACCCTAATTTTACTGTTGCCAAAGTATAATCTCTATTAATTTTACAAAGCCACGTTACTGGAATGAGACCTCAGTTCTCAAAGTCAGGCAGGAAATCATACAGGTTGAGCACTATACCTGTTGACACCAGGGTGTGGTTCCTTCCACAGGCAGCTAATTTCACTTTTTCAGGTTTTAGAGCTAAAAATATTTAAAATGGGACAATTATTTTATAGCAATGAAAATGAACAGTAGTCCAGGACAAATGGTAACTAAGTGATAGAACCGAGATTTAATAGCGGGC... |
Task1_train_29484 | A mutation found in RPGR (retinitis pigmentosa GTPase regulator) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Retinal dystrophy | AAAGGCAAACGTGTACTAGCCATTGACATTTTAAAAAACCCTAATTTTACTGTTGCCAAAGTATAATCTCTATTAATTTTACAAAGCCACGTTACTGGAATGAGACCTCAGTTCTCAAAGTCAGGCAGGAAATCATACAGGTTGAGCACTATACCTGTTGACACCAGGGTGTGGTTCCTTCCACAGGCAGCTAATTTCACTTTTTCAGGTTTTAGAGCTAAAAATATTTAAAATGGGACAATTATTTTATAGCAATGAAAATGAACAGTAGTCCAGGACAAATGGTAACTAAGTGATAGAACCGAGATTTAATAGCGGGC... | AAAGGCAAACGTGTACTAGCCATTGACATTTTAAAAAACCCTAATTTTACTGTTGCCAAAGTATAATCTCTATTAATTTTACAAAGCCACGTTACTGGAATGAGACCTCAGTTCTCAAAGTCAGGCAGGAAATCATACAGGTTGAGCACTATACCTGTTGACACCAGGGTGTGGTTCCTTCCACAGGCAGCTAATTTCACTTTTTCAGGTTTTAGAGCTAAAAATATTTAAAATGGGACAATTATTTTATAGCAATGAAAATGAACAGTAGTCCAGGACAAATGGTAACTAAGTGATAGAACCGAGATTTAATAGCGGGC... |
Task1_train_29485 | A variant affecting Chromosome X, within the gene RPGR (retinitis pigmentosa GTPase regulator), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Primary ciliary dyskinesia | TTTATATATATAATTATAAACTCCACAGGTAGGCCGGGTGTGGTGGCTCCCCAGCACTTTGGGAGGCCAGGACAGGCAGATGGCTTGAGCTCAGGAGTTCCAGACCAACCTGGGCAACATGGTGAAACCCCTTCTCTACAAAAAAATACAAAAATTAGCTGGGTGTGGTGATGCATGCCTGTAGTTGCAGCTATTCGGGGAGGGGGTGCTGAGGTGGGAGAATGGCTGGAGCCCAGGAGGTCGAGGCTGCAGTAAGCAGAGATCACACCACTGCACTCCAGCTTGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAA... | TTTATATATATAATTATAAACTCCACAGGTAGGCCGGGTGTGGTGGCTCCCCAGCACTTTGGGAGGCCAGGACAGGCAGATGGCTTGAGCTCAGGAGTTCCAGACCAACCTGGGCAACATGGTGAAACCCCTTCTCTACAAAAAAATACAAAAATTAGCTGGGTGTGGTGATGCATGCCTGTAGTTGCAGCTATTCGGGGAGGGGGTGCTGAGGTGGGAGAATGGCTGGAGCCCAGGAGGTCGAGGCTGCAGTAAGCAGAGATCACACCACTGCACTCCAGCTTGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAA... |
Task1_train_29486 | Given this variant in gene RPGR (retinitis pigmentosa GTPase regulator) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Retinal dystrophy | TTTATATATATAATTATAAACTCCACAGGTAGGCCGGGTGTGGTGGCTCCCCAGCACTTTGGGAGGCCAGGACAGGCAGATGGCTTGAGCTCAGGAGTTCCAGACCAACCTGGGCAACATGGTGAAACCCCTTCTCTACAAAAAAATACAAAAATTAGCTGGGTGTGGTGATGCATGCCTGTAGTTGCAGCTATTCGGGGAGGGGGTGCTGAGGTGGGAGAATGGCTGGAGCCCAGGAGGTCGAGGCTGCAGTAAGCAGAGATCACACCACTGCACTCCAGCTTGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAA... | TTTATATATATAATTATAAACTCCACAGGTAGGCCGGGTGTGGTGGCTCCCCAGCACTTTGGGAGGCCAGGACAGGCAGATGGCTTGAGCTCAGGAGTTCCAGACCAACCTGGGCAACATGGTGAAACCCCTTCTCTACAAAAAAATACAAAAATTAGCTGGGTGTGGTGATGCATGCCTGTAGTTGCAGCTATTCGGGGAGGGGGTGCTGAGGTGGGAGAATGGCTGGAGCCCAGGAGGTCGAGGCTGCAGTAAGCAGAGATCACACCACTGCACTCCAGCTTGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAA... |
Task1_train_29487 | This sequence variant lies in RPGR (retinitis pigmentosa GTPase regulator) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Retinitis pigmentosa 3 | TTTATATATATAATTATAAACTCCACAGGTAGGCCGGGTGTGGTGGCTCCCCAGCACTTTGGGAGGCCAGGACAGGCAGATGGCTTGAGCTCAGGAGTTCCAGACCAACCTGGGCAACATGGTGAAACCCCTTCTCTACAAAAAAATACAAAAATTAGCTGGGTGTGGTGATGCATGCCTGTAGTTGCAGCTATTCGGGGAGGGGGTGCTGAGGTGGGAGAATGGCTGGAGCCCAGGAGGTCGAGGCTGCAGTAAGCAGAGATCACACCACTGCACTCCAGCTTGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAA... | TTTATATATATAATTATAAACTCCACAGGTAGGCCGGGTGTGGTGGCTCCCCAGCACTTTGGGAGGCCAGGACAGGCAGATGGCTTGAGCTCAGGAGTTCCAGACCAACCTGGGCAACATGGTGAAACCCCTTCTCTACAAAAAAATACAAAAATTAGCTGGGTGTGGTGATGCATGCCTGTAGTTGCAGCTATTCGGGGAGGGGGTGCTGAGGTGGGAGAATGGCTGGAGCCCAGGAGGTCGAGGCTGCAGTAAGCAGAGATCACACCACTGCACTCCAGCTTGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAA... |
Task1_train_29488 | This alteration occurs within gene OTC (ornithine transcarbamylase) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | CTTTTCCAATCCCTCTGGGAGTTATTGGTATCTTAACTTTTTTTTAGTTCCCTCTGGCTTTGAGCTCCTGCATCTGTAGCATTAGGAGGGTTTGTGAGTTGCTTTGGCATCTCAGAAATGCTGCCTGTACTCTCTAGCATGGAACTGCAGACACTTCTTGATTTCTCCCCAAGCATTACCAATATGAGTTGTGTGTATGGCTAGCACAGTTCAGTGAAGATATGGGGTCAAGCTATGGGCTTTATATTAGCCTGTGGTTTGGCCTCATCTCCCTCAGGCTCCATGCAAACGTTCAATTTCACTCCTGTATTATGTGGAGC... | CTTTTCCAATCCCTCTGGGAGTTATTGGTATCTTAACTTTTTTTTAGTTCCCTCTGGCTTTGAGCTCCTGCATCTGTAGCATTAGGAGGGTTTGTGAGTTGCTTTGGCATCTCAGAAATGCTGCCTGTACTCTCTAGCATGGAACTGCAGACACTTCTTGATTTCTCCCCAAGCATTACCAATATGAGTTGTGTGTATGGCTAGCACAGTTCAGTGAAGATATGGGGTCAAGCTATGGGCTTTATATTAGCCTGTGGTTTGGCCTCATCTCCCTCAGGCTCCATGCAAACGTTCAATTTCACTCCTGTATTATGTGGAGC... |
Task1_train_29489 | With a mutation on Chromosome X in gene OTC (ornithine transcarbamylase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | CTTTTCCAATCCCTCTGGGAGTTATTGGTATCTTAACTTTTTTTTAGTTCCCTCTGGCTTTGAGCTCCTGCATCTGTAGCATTAGGAGGGTTTGTGAGTTGCTTTGGCATCTCAGAAATGCTGCCTGTACTCTCTAGCATGGAACTGCAGACACTTCTTGATTTCTCCCCAAGCATTACCAATATGAGTTGTGTGTATGGCTAGCACAGTTCAGTGAAGATATGGGGTCAAGCTATGGGCTTTATATTAGCCTGTGGTTTGGCCTCATCTCCCTCAGGCTCCATGCAAACGTTCAATTTCACTCCTGTATTATGTGGAGC... | CTTTTCCAATCCCTCTGGGAGTTATTGGTATCTTAACTTTTTTTTAGTTCCCTCTGGCTTTGAGCTCCTGCATCTGTAGCATTAGGAGGGTTTGTGAGTTGCTTTGGCATCTCAGAAATGCTGCCTGTACTCTCTAGCATGGAACTGCAGACACTTCTTGATTTCTCCCCAAGCATTACCAATATGAGTTGTGTGTATGGCTAGCACAGTTCAGTGAAGATATGGGGTCAAGCTATGGGCTTTATATTAGCCTGTGGTTTGGCCTCATCTCCCTCAGGCTCCATGCAAACGTTCAATTTCACTCCTGTATTATGTGGAGC... |
Task1_train_29490 | Given this context: Chromosome X, gene OTC (ornithine transcarbamylase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Ornithine carbamoyltransferase deficiency | TTTTCCAATCCCTCTGGGAGTTATTGGTATCTTAACTTTTTTTTAGTTCCCTCTGGCTTTGAGCTCCTGCATCTGTAGCATTAGGAGGGTTTGTGAGTTGCTTTGGCATCTCAGAAATGCTGCCTGTACTCTCTAGCATGGAACTGCAGACACTTCTTGATTTCTCCCCAAGCATTACCAATATGAGTTGTGTGTATGGCTAGCACAGTTCAGTGAAGATATGGGGTCAAGCTATGGGCTTTATATTAGCCTGTGGTTTGGCCTCATCTCCCTCAGGCTCCATGCAAACGTTCAATTTCACTCCTGTATTATGTGGAGCG... | TTTTCCAATCCCTCTGGGAGTTATTGGTATCTTAACTTTTTTTTAGTTCCCTCTGGCTTTGAGCTCCTGCATCTGTAGCATTAGGAGGGTTTGTGAGTTGCTTTGGCATCTCAGAAATGCTGCCTGTACTCTCTAGCATGGAACTGCAGACACTTCTTGATTTCTCCCCAAGCATTACCAATATGAGTTGTGTGTATGGCTAGCACAGTTCAGTGAAGATATGGGGTCAAGCTATGGGCTTTATATTAGCCTGTGGTTTGGCCTCATCTCCCTCAGGCTCCATGCAAACGTTCAATTTCACTCCTGTATTATGTGGAGCG... |
Task1_train_29491 | This sequence variant lies in OTC (ornithine transcarbamylase) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Ornithine carbamoyltransferase deficiency | TTTCCAATCCCTCTGGGAGTTATTGGTATCTTAACTTTTTTTTAGTTCCCTCTGGCTTTGAGCTCCTGCATCTGTAGCATTAGGAGGGTTTGTGAGTTGCTTTGGCATCTCAGAAATGCTGCCTGTACTCTCTAGCATGGAACTGCAGACACTTCTTGATTTCTCCCCAAGCATTACCAATATGAGTTGTGTGTATGGCTAGCACAGTTCAGTGAAGATATGGGGTCAAGCTATGGGCTTTATATTAGCCTGTGGTTTGGCCTCATCTCCCTCAGGCTCCATGCAAACGTTCAATTTCACTCCTGTATTATGTGGAGCGC... | TTTCCAATCCCTCTGGGAGTTATTGGTATCTTAACTTTTTTTTAGTTCCCTCTGGCTTTGAGCTCCTGCATCTGTAGCATTAGGAGGGTTTGTGAGTTGCTTTGGCATCTCAGAAATGCTGCCTGTACTCTCTAGCATGGAACTGCAGACACTTCTTGATTTCTCCCCAAGCATTACCAATATGAGTTGTGTGTATGGCTAGCACAGTTCAGTGAAGATATGGGGTCAAGCTATGGGCTTTATATTAGCCTGTGGTTTGGCCTCATCTCCCTCAGGCTCCATGCAAACGTTCAATTTCACTCCTGTATTATGTGGAGCGC... |
Task1_train_29492 | This sequence change occurs on Chromosome X, altering OTC (ornithine transcarbamylase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | TAGCATTAGGAGGGTTTGTGAGTTGCTTTGGCATCTCAGAAATGCTGCCTGTACTCTCTAGCATGGAACTGCAGACACTTCTTGATTTCTCCCCAAGCATTACCAATATGAGTTGTGTGTATGGCTAGCACAGTTCAGTGAAGATATGGGGTCAAGCTATGGGCTTTATATTAGCCTGTGGTTTGGCCTCATCTCCCTCAGGCTCCATGCAAACGTTCAATTTCACTCCTGTATTATGTGGAGCGCTTTTGCTCTCTGAAACCTATTCAATAACTGGCCTTGTTTGCCTCTTCAAAGATGCTTTATTATGTTTTTTAAAT... | TAGCATTAGGAGGGTTTGTGAGTTGCTTTGGCATCTCAGAAATGCTGCCTGTACTCTCTAGCATGGAACTGCAGACACTTCTTGATTTCTCCCCAAGCATTACCAATATGAGTTGTGTGTATGGCTAGCACAGTTCAGTGAAGATATGGGGTCAAGCTATGGGCTTTATATTAGCCTGTGGTTTGGCCTCATCTCCCTCAGGCTCCATGCAAACGTTCAATTTCACTCCTGTATTATGTGGAGCGCTTTTGCTCTCTGAAACCTATTCAATAACTGGCCTTGTTTGCCTCTTCAAAGATGCTTTATTATGTTTTTTAAAT... |
Task1_train_29493 | The gene OTC (ornithine transcarbamylase) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | AAACACAGATAACACTAGGAATGATGAGAGAAAGATGATGTCCATTTTATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTC... | AAACACAGATAACACTAGGAATGATGAGAGAAAGATGATGTCCATTTTATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTC... |
Task1_train_29494 | A mutation in OTC (ornithine transcarbamylase), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Ornithine carbamoyltransferase deficiency | AACACAGATAACACTAGGAATGATGAGAGAAAGATGATGTCCATTTTATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCT... | AACACAGATAACACTAGGAATGATGAGAGAAAGATGATGTCCATTTTATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCT... |
Task1_train_29495 | Consider a variant on Chromosome X in gene OTC (ornithine transcarbamylase). Determine its clinical classification and disease relevance. | Pathogenic; Ornithine carbamoyltransferase deficiency | ACAGATAACACTAGGAATGATGAGAGAAAGATGATGTCCATTTTATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATT... | ACAGATAACACTAGGAATGATGAGAGAAAGATGATGTCCATTTTATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATT... |
Task1_train_29496 | A variant has been detected on Chromosome X in OTC (ornithine transcarbamylase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | CACTAGGAATGATGAGAGAAAGATGATGTCCATTTTATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCA... | CACTAGGAATGATGAGAGAAAGATGATGTCCATTTTATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCA... |
Task1_train_29497 | With a mutation on Chromosome X in gene OTC (ornithine transcarbamylase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Ornithine carbamoyltransferase deficiency | ACTAGGAATGATGAGAGAAAGATGATGTCCATTTTATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCAT... | ACTAGGAATGATGAGAGAAAGATGATGTCCATTTTATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCAT... |
Task1_train_29498 | Given this variant in gene OTC (ornithine transcarbamylase) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Ornithine carbamoyltransferase deficiency | AGGAATGATGAGAGAAAGATGATGTCCATTTTATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCATGTG... | AGGAATGATGAGAGAAAGATGATGTCCATTTTATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCATGTG... |
Task1_train_29499 | A variant on Chromosome X in gene OTC (ornithine transcarbamylase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | GAATGATGAGAGAAAGATGATGTCCATTTTATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCATGTGCC... | GAATGATGAGAGAAAGATGATGTCCATTTTATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCATGTGCC... |
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