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_19000 | A sequence alteration has been identified in GJB2 (gap junction protein beta 2) on Chromosome 13. Is it disease-inducing or harmless? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 3A | CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAA... | CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAA... |
Task1_train_19001 | Consider a variant on Chromosome 13 in gene GJB2 (gap junction protein beta 2). Determine its clinical classification and disease relevance. | Pathogenic; Nonsyndromic genetic hearing loss | TGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGT... | TGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGT... |
Task1_train_19002 | Here is a variant affecting GJB2 (gap junction protein beta 2) on Chromosome 13. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hereditary palmoplantar keratoderma | TGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGT... | TGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGT... |
Task1_train_19003 | A variant affecting Chromosome 13, within the gene GJB2 (gap junction protein beta 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Rare genetic deafness | TGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGT... | TGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGT... |
Task1_train_19004 | The gene GJB2 (gap junction protein beta 2), on Chromosome 13, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Nonsyndromic genetic hearing loss | GGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTG... | GGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTG... |
Task1_train_19005 | Here’s a variant in GJB2 (gap junction protein beta 2) located on Chromosome 13. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hereditary palmoplantar keratoderma | GGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTG... | GGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTG... |
Task1_train_19006 | Here is a genetic alteration in GJB2 (gap junction protein beta 2) on Chromosome 13. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Rare genetic deafness | GGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTG... | GGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTG... |
Task1_train_19007 | Here is a mutation in GJB2 (gap junction protein beta 2) on Chromosome 13. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Palmoplantar keratoderma-deafness syndrome | GGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTG... | GGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTG... |
Task1_train_19008 | This mutation occurs in GJB2 (gap junction protein beta 2) on Chromosome 13. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Palmoplantar keratoderma-deafness syndrome | CAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTA... | CAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTA... |
Task1_train_19009 | Gene GJB2 (gap junction protein beta 2) on Chromosome 13 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | TCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTG... | TCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTG... |
Task1_train_19010 | The gene GJB2 (gap junction protein beta 2) on Chromosome 13 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Noonan syndrome 1 | GTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAA... | GTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAA... |
Task1_train_19011 | A mutation in GJB2 (gap junction protein beta 2), located on Chromosome 13, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Mutilating keratoderma | GCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCA... | GCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCA... |
Task1_train_19012 | The gene GJB2 (gap junction protein beta 2) on Chromosome 13 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hearing loss | GCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCA... | GCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCA... |
Task1_train_19013 | A sequence alteration has been identified in GJB2 (gap junction protein beta 2) on Chromosome 13. Is it disease-inducing or harmless? | Pathogenic; Palmoplantar keratoderma-deafness syndrome | CTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAG... | CTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAG... |
Task1_train_19014 | Consider a variant on Chromosome 13 in gene GJB2 (gap junction protein beta 2). Determine its clinical classification and disease relevance. | Pathogenic; Palmoplantar keratoderma-deafness syndrome | TGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGG... | TGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGG... |
Task1_train_19015 | Gene GJB2 (gap junction protein beta 2) on Chromosome 13 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Knuckle pads, deafness AND leukonychia syndrome | ATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTA... | ATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTA... |
Task1_train_19016 | A sequence alteration has been identified in GJB2 (gap junction protein beta 2) on Chromosome 13. Is it disease-inducing or harmless? | Pathogenic; Hearing impairment | GTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGA... | GTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGA... |
Task1_train_19017 | A variant found in Chromosome 13 affects GJB2 (gap junction protein beta 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A | TGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGAT... | TGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGAT... |
Task1_train_19018 | With a mutation on Chromosome 13 in gene GJB2 (gap junction protein beta 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | ATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAAT... | ATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAAT... |
Task1_train_19019 | Chromosome 13 houses a mutation in gene GJB2 (gap junction protein beta 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | ATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAAT... | ATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAAT... |
Task1_train_19020 | A sequence alteration has been identified in GJB2 (gap junction protein beta 2) on Chromosome 13. Is it disease-inducing or harmless? | Pathogenic; Ichthyosis, hystrix-like, with hearing loss | ATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAAT... | ATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAAT... |
Task1_train_19021 | A variant was discovered on Chromosome 13, affecting GJB2 (gap junction protein beta 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Mutilating keratoderma | ATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAAT... | ATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAAT... |
Task1_train_19022 | Here is a genetic alteration in GJB2 (gap junction protein beta 2) on Chromosome 13. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | ATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTA... | ATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTA... |
Task1_train_19023 | Assess the clinical impact of this variant on gene GJB2 (gap junction protein beta 2), found on Chromosome 13. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 3A | TATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTA... | TATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTA... |
Task1_train_19024 | A variant has been detected on Chromosome 13 in GJB2 (gap junction protein beta 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 3A | ATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAG... | ATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAG... |
Task1_train_19025 | Here’s a variant in GJB2 (gap junction protein beta 2) located on Chromosome 13. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Nonsyndromic genetic hearing loss | GAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTA... | GAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTA... |
Task1_train_19026 | Assess the clinical impact of this variant on gene GJB2 (gap junction protein beta 2), found on Chromosome 13. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Nonsyndromic genetic hearing loss | AATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTAT... | AATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTAT... |
Task1_train_19027 | Here’s a variant in GJB2 (gap junction protein beta 2) located on Chromosome 13. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Mutilating keratoderma | TTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATT... | TTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATT... |
Task1_train_19028 | This variant impacts the gene GJB2 (gap junction protein beta 2) on Chromosome 13. Is the change likely to result in a pathogenic outcome? | Pathogenic; Ichthyosis, hystrix-like, with hearing loss | TTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATT... | TTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATT... |
Task1_train_19029 | Consider a variant on Chromosome 13 in gene GJB2 (gap junction protein beta 2). Determine its clinical classification and disease relevance. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A | TTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATT... | TTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATT... |
Task1_train_19030 | A variant found in Chromosome 13 affects GJB2 (gap junction protein beta 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Palmoplantar keratoderma-deafness syndrome | TTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATT... | TTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATT... |
Task1_train_19031 | A sequence alteration has been identified in GJB2 (gap junction protein beta 2) on Chromosome 13. Is it disease-inducing or harmless? | Pathogenic; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | TTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATT... | TTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATT... |
Task1_train_19032 | This mutation occurs in GJB2 (gap junction protein beta 2) on Chromosome 13. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Knuckle pads, deafness AND leukonychia syndrome | TTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATT... | TTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATT... |
Task1_train_19033 | Gene GJB2 (gap junction protein beta 2) on Chromosome 13 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 3A | TTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATT... | TTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATT... |
Task1_train_19034 | Here is a mutation in GJB2 (gap junction protein beta 2) on Chromosome 13. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Nonsyndromic genetic hearing loss | TTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATT... | TTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATT... |
Task1_train_19035 | This variant impacts the gene GJB2 (gap junction protein beta 2) on Chromosome 13. Is the change likely to result in a pathogenic outcome? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 3A | CTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTC... | CTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTC... |
Task1_train_19036 | A variant was discovered on Chromosome 13, affecting GJB2 (gap junction protein beta 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; GJB2-related disorder | CTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTC... | CTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTC... |
Task1_train_19037 | Consider this mutation in GJB2 (gap junction protein beta 2) on Chromosome 13. Is this a benign change or a disease-causing variant? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A | CTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTC... | CTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTC... |
Task1_train_19038 | This variant impacts the gene GJB2 (gap junction protein beta 2) on Chromosome 13. Is the change likely to result in a pathogenic outcome? | Pathogenic; Rare genetic deafness | CTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTC... | CTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTC... |
Task1_train_19039 | Mutation context: Chromosome 13, Gene GJB2 (gap junction protein beta 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Rare genetic deafness | TGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCA... | TGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCA... |
Task1_train_19040 | An alteration has been detected in GJB2 (gap junction protein beta 2) on Chromosome 13. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A | TGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCA... | TGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCA... |
Task1_train_19041 | Here is a variant affecting GJB2 (gap junction protein beta 2) on Chromosome 13. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Mutilating keratoderma | TGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCA... | TGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCA... |
Task1_train_19042 | A change on Chromosome 13 affects gene GJB2 (gap junction protein beta 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Ichthyosis, hystrix-like, with hearing loss | TGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCA... | TGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCA... |
Task1_train_19043 | A variant was discovered in gene GJB2 (gap junction protein beta 2), Chromosome 13. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | TGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCA... | TGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCA... |
Task1_train_19044 | A sequence alteration has been identified in GJB2 (gap junction protein beta 2) on Chromosome 13. Is it disease-inducing or harmless? | Pathogenic; Palmoplantar keratoderma-deafness syndrome | TGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCA... | TGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCA... |
Task1_train_19045 | A genetic alteration is present in GJB2 (gap junction protein beta 2) on Chromosome 13. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Knuckle pads, deafness AND leukonychia syndrome | TGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCA... | TGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCA... |
Task1_train_19046 | This alteration in GJB2 (gap junction protein beta 2) on Chromosome 13 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 3A | TGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCA... | TGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCA... |
Task1_train_19047 | A mutation on Chromosome 13 affecting GJB2 (gap junction protein beta 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not specified | TGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCA... | TGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCA... |
Task1_train_19048 | Gene GJB2 (gap junction protein beta 2) on Chromosome 13 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A | TGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCA... | TGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCA... |
Task1_train_19049 | Given this context: Chromosome 13, gene GJB2 (gap junction protein beta 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Palmoplantar keratoderma-deafness syndrome | AATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAA... | AATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAA... |
Task1_train_19050 | Assess the clinical impact of this variant on gene GJB2 (gap junction protein beta 2), found on Chromosome 13. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | ATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGA... | ATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGA... |
Task1_train_19051 | This variant affects the gene GJB2 (gap junction protein beta 2) found on Chromosome 13. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A | GTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAA... | GTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAA... |
Task1_train_19052 | Mutation context: Chromosome 13, Gene GJB2 (gap junction protein beta 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | AATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCAT... | AATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCAT... |
Task1_train_19053 | A sequence alteration has been identified in GJB2 (gap junction protein beta 2) on Chromosome 13. Is it disease-inducing or harmless? | Pathogenic; Nonsyndromic genetic hearing loss | GTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTT... | GTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTT... |
Task1_train_19054 | A genetic alteration is present in GJB2 (gap junction protein beta 2) on Chromosome 13. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Nonsyndromic genetic hearing loss | TACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTC... | TACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTC... |
Task1_train_19055 | With a mutation on Chromosome 13 in gene GJB6 (gap junction protein beta 6), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 1B | AAAATAAAAATAAAAATAAATAAATAAAATAAAAAGAAAGGAACATCCCAGGAAAAGCAGGGATTATGAATGCCAACTTGGTTGGTTTAGTGTGATGATGAAATTGTGATTTTGCTTTAAAAGCTTAGTCCTTGGTTTTTATAGATTGGTACTAAAATATTATGGCTGAAATATTTTGGGGTTTGCTTTAGACTAAAGAAAATGAGAAGAGTATTTTTGTTTCTCTGGAGCAAGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGT... | AAAATAAAAATAAAAATAAATAAATAAAATAAAAAGAAAGGAACATCCCAGGAAAAGCAGGGATTATGAATGCCAACTTGGTTGGTTTAGTGTGATGATGAAATTGTGATTTTGCTTTAAAAGCTTAGTCCTTGGTTTTTATAGATTGGTACTAAAATATTATGGCTGAAATATTTTGGGGTTTGCTTTAGACTAAAGAAAATGAGAAGAGTATTTTTGTTTCTCTGGAGCAAGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGT... |
Task1_train_19056 | Given this variant in gene GJB6 (gap junction protein beta 6) on Chromosome 13, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 3B | AAAATAAAAATAAAAATAAATAAATAAAATAAAAAGAAAGGAACATCCCAGGAAAAGCAGGGATTATGAATGCCAACTTGGTTGGTTTAGTGTGATGATGAAATTGTGATTTTGCTTTAAAAGCTTAGTCCTTGGTTTTTATAGATTGGTACTAAAATATTATGGCTGAAATATTTTGGGGTTTGCTTTAGACTAAAGAAAATGAGAAGAGTATTTTTGTTTCTCTGGAGCAAGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGT... | AAAATAAAAATAAAAATAAATAAATAAAATAAAAAGAAAGGAACATCCCAGGAAAAGCAGGGATTATGAATGCCAACTTGGTTGGTTTAGTGTGATGATGAAATTGTGATTTTGCTTTAAAAGCTTAGTCCTTGGTTTTTATAGATTGGTACTAAAATATTATGGCTGAAATATTTTGGGGTTTGCTTTAGACTAAAGAAAATGAGAAGAGTATTTTTGTTTCTCTGGAGCAAGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGT... |
Task1_train_19057 | Chromosome 13 houses a mutation in gene GJB6 (gap junction protein beta 6). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hidrotic ectodermal dysplasia syndrome | AAAATAAAAATAAAAATAAATAAATAAAATAAAAAGAAAGGAACATCCCAGGAAAAGCAGGGATTATGAATGCCAACTTGGTTGGTTTAGTGTGATGATGAAATTGTGATTTTGCTTTAAAAGCTTAGTCCTTGGTTTTTATAGATTGGTACTAAAATATTATGGCTGAAATATTTTGGGGTTTGCTTTAGACTAAAGAAAATGAGAAGAGTATTTTTGTTTCTCTGGAGCAAGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGT... | AAAATAAAAATAAAAATAAATAAATAAAATAAAAAGAAAGGAACATCCCAGGAAAAGCAGGGATTATGAATGCCAACTTGGTTGGTTTAGTGTGATGATGAAATTGTGATTTTGCTTTAAAAGCTTAGTCCTTGGTTTTTATAGATTGGTACTAAAATATTATGGCTGAAATATTTTGGGGTTTGCTTTAGACTAAAGAAAATGAGAAGAGTATTTTTGTTTCTCTGGAGCAAGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGT... |
Task1_train_19058 | The gene GJB6 (gap junction protein beta 6) on Chromosome 13 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; X-linked mixed hearing loss with perilymphatic gusher | AAAATAAAAATAAAAATAAATAAATAAAATAAAAAGAAAGGAACATCCCAGGAAAAGCAGGGATTATGAATGCCAACTTGGTTGGTTTAGTGTGATGATGAAATTGTGATTTTGCTTTAAAAGCTTAGTCCTTGGTTTTTATAGATTGGTACTAAAATATTATGGCTGAAATATTTTGGGGTTTGCTTTAGACTAAAGAAAATGAGAAGAGTATTTTTGTTTCTCTGGAGCAAGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGT... | AAAATAAAAATAAAAATAAATAAATAAAATAAAAAGAAAGGAACATCCCAGGAAAAGCAGGGATTATGAATGCCAACTTGGTTGGTTTAGTGTGATGATGAAATTGTGATTTTGCTTTAAAAGCTTAGTCCTTGGTTTTTATAGATTGGTACTAAAATATTATGGCTGAAATATTTTGGGGTTTGCTTTAGACTAAAGAAAATGAGAAGAGTATTTTTGTTTCTCTGGAGCAAGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGT... |
Task1_train_19059 | Gene GJB6 (gap junction protein beta 6) on Chromosome 13 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A | AAAATAAAAATAAAAATAAATAAATAAAATAAAAAGAAAGGAACATCCCAGGAAAAGCAGGGATTATGAATGCCAACTTGGTTGGTTTAGTGTGATGATGAAATTGTGATTTTGCTTTAAAAGCTTAGTCCTTGGTTTTTATAGATTGGTACTAAAATATTATGGCTGAAATATTTTGGGGTTTGCTTTAGACTAAAGAAAATGAGAAGAGTATTTTTGTTTCTCTGGAGCAAGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGT... | AAAATAAAAATAAAAATAAATAAATAAAATAAAAAGAAAGGAACATCCCAGGAAAAGCAGGGATTATGAATGCCAACTTGGTTGGTTTAGTGTGATGATGAAATTGTGATTTTGCTTTAAAAGCTTAGTCCTTGGTTTTTATAGATTGGTACTAAAATATTATGGCTGAAATATTTTGGGGTTTGCTTTAGACTAAAGAAAATGAGAAGAGTATTTTTGTTTCTCTGGAGCAAGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGT... |
Task1_train_19060 | This variant impacts the gene GJB6 (gap junction protein beta 6) on Chromosome 13. Is the change likely to result in a pathogenic outcome? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 1B | AAAATAAAAATAAAAATAAATAAATAAAATAAAAAGAAAGGAACATCCCAGGAAAAGCAGGGATTATGAATGCCAACTTGGTTGGTTTAGTGTGATGATGAAATTGTGATTTTGCTTTAAAAGCTTAGTCCTTGGTTTTTATAGATTGGTACTAAAATATTATGGCTGAAATATTTTGGGGTTTGCTTTAGACTAAAGAAAATGAGAAGAGTATTTTTGTTTCTCTGGAGCAAGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGT... | AAAATAAAAATAAAAATAAATAAATAAAATAAAAAGAAAGGAACATCCCAGGAAAAGCAGGGATTATGAATGCCAACTTGGTTGGTTTAGTGTGATGATGAAATTGTGATTTTGCTTTAAAAGCTTAGTCCTTGGTTTTTATAGATTGGTACTAAAATATTATGGCTGAAATATTTTGGGGTTTGCTTTAGACTAAAGAAAATGAGAAGAGTATTTTTGTTTCTCTGGAGCAAGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGT... |
Task1_train_19061 | Consider this mutation in GJB6 (gap junction protein beta 6) on Chromosome 13. Is this a benign change or a disease-causing variant? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 3B | AAAATAAAAATAAAAATAAATAAATAAAATAAAAAGAAAGGAACATCCCAGGAAAAGCAGGGATTATGAATGCCAACTTGGTTGGTTTAGTGTGATGATGAAATTGTGATTTTGCTTTAAAAGCTTAGTCCTTGGTTTTTATAGATTGGTACTAAAATATTATGGCTGAAATATTTTGGGGTTTGCTTTAGACTAAAGAAAATGAGAAGAGTATTTTTGTTTCTCTGGAGCAAGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGT... | AAAATAAAAATAAAAATAAATAAATAAAATAAAAAGAAAGGAACATCCCAGGAAAAGCAGGGATTATGAATGCCAACTTGGTTGGTTTAGTGTGATGATGAAATTGTGATTTTGCTTTAAAAGCTTAGTCCTTGGTTTTTATAGATTGGTACTAAAATATTATGGCTGAAATATTTTGGGGTTTGCTTTAGACTAAAGAAAATGAGAAGAGTATTTTTGTTTCTCTGGAGCAAGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGT... |
Task1_train_19062 | Consider this mutation in GJB6 (gap junction protein beta 6) on Chromosome 13. Is this a benign change or a disease-causing variant? | Pathogenic; Hidrotic ectodermal dysplasia syndrome | AAAATAAAAATAAAAATAAATAAATAAAATAAAAAGAAAGGAACATCCCAGGAAAAGCAGGGATTATGAATGCCAACTTGGTTGGTTTAGTGTGATGATGAAATTGTGATTTTGCTTTAAAAGCTTAGTCCTTGGTTTTTATAGATTGGTACTAAAATATTATGGCTGAAATATTTTGGGGTTTGCTTTAGACTAAAGAAAATGAGAAGAGTATTTTTGTTTCTCTGGAGCAAGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGT... | AAAATAAAAATAAAAATAAATAAATAAAATAAAAAGAAAGGAACATCCCAGGAAAAGCAGGGATTATGAATGCCAACTTGGTTGGTTTAGTGTGATGATGAAATTGTGATTTTGCTTTAAAAGCTTAGTCCTTGGTTTTTATAGATTGGTACTAAAATATTATGGCTGAAATATTTTGGGGTTTGCTTTAGACTAAAGAAAATGAGAAGAGTATTTTTGTTTCTCTGGAGCAAGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGT... |
Task1_train_19063 | This sequence change occurs on Chromosome 13, altering GJB6 (gap junction protein beta 6). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A | AAAATAAAAATAAAAATAAATAAATAAAATAAAAAGAAAGGAACATCCCAGGAAAAGCAGGGATTATGAATGCCAACTTGGTTGGTTTAGTGTGATGATGAAATTGTGATTTTGCTTTAAAAGCTTAGTCCTTGGTTTTTATAGATTGGTACTAAAATATTATGGCTGAAATATTTTGGGGTTTGCTTTAGACTAAAGAAAATGAGAAGAGTATTTTTGTTTCTCTGGAGCAAGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGT... | AAAATAAAAATAAAAATAAATAAATAAAATAAAAAGAAAGGAACATCCCAGGAAAAGCAGGGATTATGAATGCCAACTTGGTTGGTTTAGTGTGATGATGAAATTGTGATTTTGCTTTAAAAGCTTAGTCCTTGGTTTTTATAGATTGGTACTAAAATATTATGGCTGAAATATTTTGGGGTTTGCTTTAGACTAAAGAAAATGAGAAGAGTATTTTTGTTTCTCTGGAGCAAGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGT... |
Task1_train_19064 | Here’s a variant in GJB6 (gap junction protein beta 6) located on Chromosome 13. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hidrotic ectodermal dysplasia syndrome | AAAATAAAAATAAAAATAAATAAATAAAATAAAAAGAAAGGAACATCCCAGGAAAAGCAGGGATTATGAATGCCAACTTGGTTGGTTTAGTGTGATGATGAAATTGTGATTTTGCTTTAAAAGCTTAGTCCTTGGTTTTTATAGATTGGTACTAAAATATTATGGCTGAAATATTTTGGGGTTTGCTTTAGACTAAAGAAAATGAGAAGAGTATTTTTGTTTCTCTGGAGCAAGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGT... | AAAATAAAAATAAAAATAAATAAATAAAATAAAAAGAAAGGAACATCCCAGGAAAAGCAGGGATTATGAATGCCAACTTGGTTGGTTTAGTGTGATGATGAAATTGTGATTTTGCTTTAAAAGCTTAGTCCTTGGTTTTTATAGATTGGTACTAAAATATTATGGCTGAAATATTTTGGGGTTTGCTTTAGACTAAAGAAAATGAGAAGAGTATTTTTGTTTCTCTGGAGCAAGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGT... |
Task1_train_19065 | The gene GJB6 (gap junction protein beta 6) on Chromosome 13 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hidrotic ectodermal dysplasia syndrome | AAAATATTATGGCTGAAATATTTTGGGGTTTGCTTTAGACTAAAGAAAATGAGAAGAGTATTTTTGTTTCTCTGGAGCAAGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGTGTATCATGCTATGTCTCTTTAGGAGTGAGATCATGGGTGTGCCATTGCTCCCAGCAGTGATCAGTCTGCACCTGCCTCACCCACACCCATACTAATGGCATCTGTGTCCCATCTGGAAATCCTTGGGGGGAAAGAGGTTTCCCACCTCTGGGT... | AAAATATTATGGCTGAAATATTTTGGGGTTTGCTTTAGACTAAAGAAAATGAGAAGAGTATTTTTGTTTCTCTGGAGCAAGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGTGTATCATGCTATGTCTCTTTAGGAGTGAGATCATGGGTGTGCCATTGCTCCCAGCAGTGATCAGTCTGCACCTGCCTCACCCACACCCATACTAATGGCATCTGTGTCCCATCTGGAAATCCTTGGGGGGAAAGAGGTTTCCCACCTCTGGGT... |
Task1_train_19066 | The gene GJB6 (gap junction protein beta 6) is located on Chromosome 13, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 1B | AGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGTGTATCATGCTATGTCTCTTTAGGAGTGAGATCATGGGTGTGCCATTGCTCCCAGCAGTGATCAGTCTGCACCTGCCTCACCCACACCCATACTAATGGCATCTGTGTCCCATCTGGAAATCCTTGGGGGGAAAGAGGTTTCCCACCTCTGGGTGCTAAACTGTGGGTGCTTTTCTCAGTCACATGGGATGAAGGCTTAAGACTTCCCTAACCTCCTCTCTTTCTGGGATGAA... | AGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGTGTATCATGCTATGTCTCTTTAGGAGTGAGATCATGGGTGTGCCATTGCTCCCAGCAGTGATCAGTCTGCACCTGCCTCACCCACACCCATACTAATGGCATCTGTGTCCCATCTGGAAATCCTTGGGGGGAAAGAGGTTTCCCACCTCTGGGTGCTAAACTGTGGGTGCTTTTCTCAGTCACATGGGATGAAGGCTTAAGACTTCCCTAACCTCCTCTCTTTCTGGGATGAA... |
Task1_train_19067 | A mutation on Chromosome 13 affecting GJB6 (gap junction protein beta 6) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hidrotic ectodermal dysplasia syndrome | AGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGTGTATCATGCTATGTCTCTTTAGGAGTGAGATCATGGGTGTGCCATTGCTCCCAGCAGTGATCAGTCTGCACCTGCCTCACCCACACCCATACTAATGGCATCTGTGTCCCATCTGGAAATCCTTGGGGGGAAAGAGGTTTCCCACCTCTGGGTGCTAAACTGTGGGTGCTTTTCTCAGTCACATGGGATGAAGGCTTAAGACTTCCCTAACCTCCTCTCTTTCTGGGATGAA... | AGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGTGTATCATGCTATGTCTCTTTAGGAGTGAGATCATGGGTGTGCCATTGCTCCCAGCAGTGATCAGTCTGCACCTGCCTCACCCACACCCATACTAATGGCATCTGTGTCCCATCTGGAAATCCTTGGGGGGAAAGAGGTTTCCCACCTCTGGGTGCTAAACTGTGGGTGCTTTTCTCAGTCACATGGGATGAAGGCTTAAGACTTCCCTAACCTCCTCTCTTTCTGGGATGAA... |
Task1_train_19068 | Given this variant in gene GJB6 (gap junction protein beta 6) on Chromosome 13, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 3B | AGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGTGTATCATGCTATGTCTCTTTAGGAGTGAGATCATGGGTGTGCCATTGCTCCCAGCAGTGATCAGTCTGCACCTGCCTCACCCACACCCATACTAATGGCATCTGTGTCCCATCTGGAAATCCTTGGGGGGAAAGAGGTTTCCCACCTCTGGGTGCTAAACTGTGGGTGCTTTTCTCAGTCACATGGGATGAAGGCTTAAGACTTCCCTAACCTCCTCTCTTTCTGGGATGAA... | AGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGTGTATCATGCTATGTCTCTTTAGGAGTGAGATCATGGGTGTGCCATTGCTCCCAGCAGTGATCAGTCTGCACCTGCCTCACCCACACCCATACTAATGGCATCTGTGTCCCATCTGGAAATCCTTGGGGGGAAAGAGGTTTCCCACCTCTGGGTGCTAAACTGTGGGTGCTTTTCTCAGTCACATGGGATGAAGGCTTAAGACTTCCCTAACCTCCTCTCTTTCTGGGATGAA... |
Task1_train_19069 | A variant on Chromosome 13 in gene GJB6 (gap junction protein beta 6) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A | AGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGTGTATCATGCTATGTCTCTTTAGGAGTGAGATCATGGGTGTGCCATTGCTCCCAGCAGTGATCAGTCTGCACCTGCCTCACCCACACCCATACTAATGGCATCTGTGTCCCATCTGGAAATCCTTGGGGGGAAAGAGGTTTCCCACCTCTGGGTGCTAAACTGTGGGTGCTTTTCTCAGTCACATGGGATGAAGGCTTAAGACTTCCCTAACCTCCTCTCTTTCTGGGATGAA... | AGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGTGTATCATGCTATGTCTCTTTAGGAGTGAGATCATGGGTGTGCCATTGCTCCCAGCAGTGATCAGTCTGCACCTGCCTCACCCACACCCATACTAATGGCATCTGTGTCCCATCTGGAAATCCTTGGGGGGAAAGAGGTTTCCCACCTCTGGGTGCTAAACTGTGGGTGCTTTTCTCAGTCACATGGGATGAAGGCTTAAGACTTCCCTAACCTCCTCTCTTTCTGGGATGAA... |
Task1_train_19070 | Chromosome 13 houses a mutation in gene GJB6 (gap junction protein beta 6). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hidrotic ectodermal dysplasia syndrome | AGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGTGTATCATGCTATGTCTCTTTAGGAGTGAGATCATGGGTGTGCCATTGCTCCCAGCAGTGATCAGTCTGCACCTGCCTCACCCACACCCATACTAATGGCATCTGTGTCCCATCTGGAAATCCTTGGGGGGAAAGAGGTTTCCCACCTCTGGGTGCTAAACTGTGGGTGCTTTTCTCAGTCACATGGGATGAAGGCTTAAGACTTCCCTAACCTCCTCTCTTTCTGGGATGAA... | AGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGTGTATCATGCTATGTCTCTTTAGGAGTGAGATCATGGGTGTGCCATTGCTCCCAGCAGTGATCAGTCTGCACCTGCCTCACCCACACCCATACTAATGGCATCTGTGTCCCATCTGGAAATCCTTGGGGGGAAAGAGGTTTCCCACCTCTGGGTGCTAAACTGTGGGTGCTTTTCTCAGTCACATGGGATGAAGGCTTAAGACTTCCCTAACCTCCTCTCTTTCTGGGATGAA... |
Task1_train_19071 | This variant affects the gene GJB6 (gap junction protein beta 6) found on Chromosome 13. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; GJB6-related disorder | AGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGTGTATCATGCTATGTCTCTTTAGGAGTGAGATCATGGGTGTGCCATTGCTCCCAGCAGTGATCAGTCTGCACCTGCCTCACCCACACCCATACTAATGGCATCTGTGTCCCATCTGGAAATCCTTGGGGGGAAAGAGGTTTCCCACCTCTGGGTGCTAAACTGTGGGTGCTTTTCTCAGTCACATGGGATGAAGGCTTAAGACTTCCCTAACCTCCTCTCTTTCTGGGATGAA... | AGTTTTTGAAGGAGGTCCTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGTGTATCATGCTATGTCTCTTTAGGAGTGAGATCATGGGTGTGCCATTGCTCCCAGCAGTGATCAGTCTGCACCTGCCTCACCCACACCCATACTAATGGCATCTGTGTCCCATCTGGAAATCCTTGGGGGGAAAGAGGTTTCCCACCTCTGGGTGCTAAACTGTGGGTGCTTTTCTCAGTCACATGGGATGAAGGCTTAAGACTTCCCTAACCTCCTCTCTTTCTGGGATGAA... |
Task1_train_19072 | This genomic variant is located on Chromosome 13, within the GJB6 (gap junction protein beta 6) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 3B | CTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGTGTATCATGCTATGTCTCTTTAGGAGTGAGATCATGGGTGTGCCATTGCTCCCAGCAGTGATCAGTCTGCACCTGCCTCACCCACACCCATACTAATGGCATCTGTGTCCCATCTGGAAATCCTTGGGGGGAAAGAGGTTTCCCACCTCTGGGTGCTAAACTGTGGGTGCTTTTCTCAGTCACATGGGATGAAGGCTTAAGACTTCCCTAACCTCCTCTCTTTCTGGGATGAACTGACCCTGAGGACATC... | CTGGAGGAATCAGCATGCCACACCAAGCCCACATCTGTGTTCACCGTTCACTGGATGTCCCCATGGGTGGTGTATCATGCTATGTCTCTTTAGGAGTGAGATCATGGGTGTGCCATTGCTCCCAGCAGTGATCAGTCTGCACCTGCCTCACCCACACCCATACTAATGGCATCTGTGTCCCATCTGGAAATCCTTGGGGGGAAAGAGGTTTCCCACCTCTGGGTGCTAAACTGTGGGTGCTTTTCTCAGTCACATGGGATGAAGGCTTAAGACTTCCCTAACCTCCTCTCTTTCTGGGATGAACTGACCCTGAGGACATC... |
Task1_train_19073 | Located on Chromosome 13, this mutation impacts FGF9 (fibroblast growth factor 9). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Multiple synostoses syndrome 3 | GTTTCTTTGTCCCTGACTCCCGCTGGGCGCGAAGGCCGCCGGCGGCTAACAGAAACCCGAGCCCGCGCAACGGAGCTCAGGCTTCCACGTGCGGCCCCGCAGGGCAGAGCAGGAAGGAGCGGCTGCAGCCCCGGGGCGCCCCGCAAGCATCCAGTGCCCGGCCCTCCCAGCTCCGCGGCGGGCTTCGGACGGTGGAGTGAGACACCAGAACTCGCCTTTCGCTTCCCCGAGCCGATGCACGGCTTGGGATGGCGCCGCTCGTCCTAAGCAGCGTGGTTTGAGGGCGAGAAGACGCCTACTGGAGCGCTCCCCTCCACCCA... | GTTTCTTTGTCCCTGACTCCCGCTGGGCGCGAAGGCCGCCGGCGGCTAACAGAAACCCGAGCCCGCGCAACGGAGCTCAGGCTTCCACGTGCGGCCCCGCAGGGCAGAGCAGGAAGGAGCGGCTGCAGCCCCGGGGCGCCCCGCAAGCATCCAGTGCCCGGCCCTCCCAGCTCCGCGGCGGGCTTCGGACGGTGGAGTGAGACACCAGAACTCGCCTTTCGCTTCCCCGAGCCGATGCACGGCTTGGGATGGCGCCGCTCGTCCTAAGCAGCGTGGTTTGAGGGCGAGAAGACGCCTACTGGAGCGCTCCCCTCCACCCA... |
Task1_train_19074 | A change on Chromosome 13 affects gene FGF9 (fibroblast growth factor 9). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Multiple synostoses syndrome 3 | AAAGGGAGTGCATCTCATGAAAAATGAATCTCATGGAAATATTGCCTTATTTATATTCCCATTTGCTTTTGAAGTAGGGAAGGCTAGTAATAAACTGGCTTCTTTTGCATGTATTCTCCATCATAGAGTCATAGATTATCAGATTCAAAACACAATTTGTAATTTCACTTTTTTTGATATACTGTTTAACATCCTATTAAAATAATTACATTAAGCACAAGATAAATTTGTTACATTTTGTCCTTATAAAAGAATTAGGAATGCCCCTTTAGAAGAAATAGCTCTTCTTTTTTACATCACCTTGAAATAGTTTCCTCTTG... | AAAGGGAGTGCATCTCATGAAAAATGAATCTCATGGAAATATTGCCTTATTTATATTCCCATTTGCTTTTGAAGTAGGGAAGGCTAGTAATAAACTGGCTTCTTTTGCATGTATTCTCCATCATAGAGTCATAGATTATCAGATTCAAAACACAATTTGTAATTTCACTTTTTTTGATATACTGTTTAACATCCTATTAAAATAATTACATTAAGCACAAGATAAATTTGTTACATTTTGTCCTTATAAAAGAATTAGGAATGCCCCTTTAGAAGAAATAGCTCTTCTTTTTTACATCACCTTGAAATAGTTTCCTCTTG... |
Task1_train_19075 | A variant affecting Chromosome 13, within the gene FGF9 (fibroblast growth factor 9), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | TTTGTCTTTGCCTGATGCATTGTCTTTCCTTTCTGCTTCCCCCCATTTCAGCTCACTTAGCAAAACTTGTCCAGTGAGATAGTATTTTGCTAAAAACCTACTCAGTGCTTCCAAACACATAGAAGAGCACTTGTCAGGAAGTGCCGGCCCTCATGACCTCTTGAGTGTGGTTTAAGCCTTTGGATTAGGGAGGGGACCTAGAGAAGGTGGCCTCATGATGGGCTGTTGATTGATTTTGTCAAATTCTGTCCCTTTCTCCTCTCCTTTGCTCTCCTGACTTACTCTGCAAGGAGTTGGGGATGATGGATTCTACCCAACTG... | TTTGTCTTTGCCTGATGCATTGTCTTTCCTTTCTGCTTCCCCCCATTTCAGCTCACTTAGCAAAACTTGTCCAGTGAGATAGTATTTTGCTAAAAACCTACTCAGTGCTTCCAAACACATAGAAGAGCACTTGTCAGGAAGTGCCGGCCCTCATGACCTCTTGAGTGTGGTTTAAGCCTTTGGATTAGGGAGGGGACCTAGAGAAGGTGGCCTCATGATGGGCTGTTGATTGATTTTGTCAAATTCTGTCCCTTTCTCCTCTCCTTTGCTCTCCTGACTTACTCTGCAAGGAGTTGGGGATGATGGATTCTACCCAACTG... |
Task1_train_19076 | A variant has been detected on Chromosome 13 in SGCG (sarcoglycan gamma). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2C | GGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCACGTCACTGCACTCCAGCCTGGGCGACAGTACAAGACTCCATCTCAAAAAAAAGACAGTCAGAAGGGGAGGACAGTTAGGCAATCAGATATATGGGTATGAAGCTCAGAACAGACTATTTAAAATAAAATACAGATAAAAATGGATTCTTCCATG... | GGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCACGTCACTGCACTCCAGCCTGGGCGACAGTACAAGACTCCATCTCAAAAAAAAGACAGTCAGAAGGGGAGGACAGTTAGGCAATCAGATATATGGGTATGAAGCTCAGAACAGACTATTTAAAATAAAATACAGATAAAAATGGATTCTTCCATG... |
Task1_train_19077 | A genetic alteration is present in SGCG (sarcoglycan gamma) on Chromosome 13. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2C | AAATGTGTCTCAATCTGGGTTGAACTGAAATTTCTCATCTCCAAGTCTAGAAATAATGCAAAGGGTAAGAAGTTTGCTCTTCTTAGCAGCGTCCCATTATAACATGGTTAAAAACTAGTAAATGATCAGGTTGAAGTCATTTTGTTGTCGTTTAATGACTGATCTTGGAAACACCCACTTTCACAAGGATCTTCAAGGTCACAGATAGTTTGCCTGAAATTGACCAGGCTTCAAAGGTGCTTCTGTGTTCTTCCTTCCTTCCACTCCTCCACGCAAGAAAAATGTAGACAATTATCCAAGGTCAAAATAGCAAACTGGGG... | AAATGTGTCTCAATCTGGGTTGAACTGAAATTTCTCATCTCCAAGTCTAGAAATAATGCAAAGGGTAAGAAGTTTGCTCTTCTTAGCAGCGTCCCATTATAACATGGTTAAAAACTAGTAAATGATCAGGTTGAAGTCATTTTGTTGTCGTTTAATGACTGATCTTGGAAACACCCACTTTCACAAGGATCTTCAAGGTCACAGATAGTTTGCCTGAAATTGACCAGGCTTCAAAGGTGCTTCTGTGTTCTTCCTTCCTTCCACTCCTCCACGCAAGAAAAATGTAGACAATTATCCAAGGTCAAAATAGCAAACTGGGG... |
Task1_train_19078 | A genetic alteration is present in SGCG (sarcoglycan gamma) on Chromosome 13. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy | AGCAACAACTTCCATTTAACCCAAAACAAAGGGCCTCGATCCCCCATATGGCCTGTGTTGCAAGGGATGGGCCAGGCGCTCCGATGTCCTTCACAGATGTGGACTGAATCTCAGGGTTTGCCACTCCCAGACTCCTTAGCTCAGAAGGCTGAACACACATTCTTCTTGGATCATAGAGTCATTCTCAGGGATTGCCTGAGTTATTGCAGTCAGGTGCATCTCCATACACCGGGTGAATGTGCTGGGATAAACATCCATGGACGCTGTTAGTACAACAAGAAGGCACATGGGTTTCCAAGCTCCTCCCCAGCCCAGGCCCT... | AGCAACAACTTCCATTTAACCCAAAACAAAGGGCCTCGATCCCCCATATGGCCTGTGTTGCAAGGGATGGGCCAGGCGCTCCGATGTCCTTCACAGATGTGGACTGAATCTCAGGGTTTGCCACTCCCAGACTCCTTAGCTCAGAAGGCTGAACACACATTCTTCTTGGATCATAGAGTCATTCTCAGGGATTGCCTGAGTTATTGCAGTCAGGTGCATCTCCATACACCGGGTGAATGTGCTGGGATAAACATCCATGGACGCTGTTAGTACAACAAGAAGGCACATGGGTTTCCAAGCTCCTCCCCAGCCCAGGCCCT... |
Task1_train_19079 | A mutation in SGCG (sarcoglycan gamma), located on Chromosome 13, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2C | AGCAACAACTTCCATTTAACCCAAAACAAAGGGCCTCGATCCCCCATATGGCCTGTGTTGCAAGGGATGGGCCAGGCGCTCCGATGTCCTTCACAGATGTGGACTGAATCTCAGGGTTTGCCACTCCCAGACTCCTTAGCTCAGAAGGCTGAACACACATTCTTCTTGGATCATAGAGTCATTCTCAGGGATTGCCTGAGTTATTGCAGTCAGGTGCATCTCCATACACCGGGTGAATGTGCTGGGATAAACATCCATGGACGCTGTTAGTACAACAAGAAGGCACATGGGTTTCCAAGCTCCTCCCCAGCCCAGGCCCT... | AGCAACAACTTCCATTTAACCCAAAACAAAGGGCCTCGATCCCCCATATGGCCTGTGTTGCAAGGGATGGGCCAGGCGCTCCGATGTCCTTCACAGATGTGGACTGAATCTCAGGGTTTGCCACTCCCAGACTCCTTAGCTCAGAAGGCTGAACACACATTCTTCTTGGATCATAGAGTCATTCTCAGGGATTGCCTGAGTTATTGCAGTCAGGTGCATCTCCATACACCGGGTGAATGTGCTGGGATAAACATCCATGGACGCTGTTAGTACAACAAGAAGGCACATGGGTTTCCAAGCTCCTCCCCAGCCCAGGCCCT... |
Task1_train_19080 | A genetic alteration is present in SACS (sacsin molecular chaperone) on Chromosome 13. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Charlevoix-Saguenay spastic ataxia | AGAGCACTCTTAGCCCTCATCTGCCTAACTCTGAAGACTTGTGCCTCAACTATAAAGATGAAGAACTCCTATCTGTCAGTAATAAAGTGTGAATTAGTCCCAGACATGCAGCTGTCCCTGAGGCAATGGAAATATCAATTCAGCTCTACCTAGAGGAAAAAAATATTTAATGTATCTGTTTCCAAACACATATATACCACATATATCAGCTAATCTGATTCCCTAAAAAGGTGACATAAACTCAACTAAATCAATGAGCACCTAAACCTAGTATATAACAAGCACTTCATATTCTATTAATCCTAAAAATCTATAATTCC... | AGAGCACTCTTAGCCCTCATCTGCCTAACTCTGAAGACTTGTGCCTCAACTATAAAGATGAAGAACTCCTATCTGTCAGTAATAAAGTGTGAATTAGTCCCAGACATGCAGCTGTCCCTGAGGCAATGGAAATATCAATTCAGCTCTACCTAGAGGAAAAAAATATTTAATGTATCTGTTTCCAAACACATATATACCACATATATCAGCTAATCTGATTCCCTAAAAAGGTGACATAAACTCAACTAAATCAATGAGCACCTAAACCTAGTATATAACAAGCACTTCATATTCTATTAATCCTAAAAATCTATAATTCC... |
Task1_train_19081 | A variant was discovered on Chromosome 13, affecting SACS (sacsin molecular chaperone). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Charlevoix-Saguenay spastic ataxia | CTTCACACTCTTAGTCAAGTAATAGGATTAAAATACTCTACCATTTCTTAAATGCACTGAGTACAACATAAAATTACAACAAATTCATGATCAGAGCCAGCTGATGAGAAAATAACGCATCCAAGAGGATCCACTTAAAAAAATGACAGACTACAAAGACTTAATTCCCCTTATGTTTAAACCAATTATATGTCCAGTGTTTCATTAGCTCCTTCAAAAATACCATGTTAAAAACATAAAATTAACTTCATCCTAACCAGAGACATACATAGACTCTTATCTAACAAACTGCTAAGCTTTGGTTATATAAAGTGCAGTTC... | CTTCACACTCTTAGTCAAGTAATAGGATTAAAATACTCTACCATTTCTTAAATGCACTGAGTACAACATAAAATTACAACAAATTCATGATCAGAGCCAGCTGATGAGAAAATAACGCATCCAAGAGGATCCACTTAAAAAAATGACAGACTACAAAGACTTAATTCCCCTTATGTTTAAACCAATTATATGTCCAGTGTTTCATTAGCTCCTTCAAAAATACCATGTTAAAAACATAAAATTAACTTCATCCTAACCAGAGACATACATAGACTCTTATCTAACAAACTGCTAAGCTTTGGTTATATAAAGTGCAGTTC... |
Task1_train_19082 | This variant affects gene SACS (sacsin molecular chaperone) located on Chromosome 13. Evaluate its biological effect and specify any disease association. | Pathogenic; Charlevoix-Saguenay spastic ataxia | TAAATGCACTGAGTACAACATAAAATTACAACAAATTCATGATCAGAGCCAGCTGATGAGAAAATAACGCATCCAAGAGGATCCACTTAAAAAAATGACAGACTACAAAGACTTAATTCCCCTTATGTTTAAACCAATTATATGTCCAGTGTTTCATTAGCTCCTTCAAAAATACCATGTTAAAAACATAAAATTAACTTCATCCTAACCAGAGACATACATAGACTCTTATCTAACAAACTGCTAAGCTTTGGTTATATAAAGTGCAGTTCAATGATGTATCATCCCAATCATTCAAATCCATCCAGCTATTTTGCAGC... | TAAATGCACTGAGTACAACATAAAATTACAACAAATTCATGATCAGAGCCAGCTGATGAGAAAATAACGCATCCAAGAGGATCCACTTAAAAAAATGACAGACTACAAAGACTTAATTCCCCTTATGTTTAAACCAATTATATGTCCAGTGTTTCATTAGCTCCTTCAAAAATACCATGTTAAAAACATAAAATTAACTTCATCCTAACCAGAGACATACATAGACTCTTATCTAACAAACTGCTAAGCTTTGGTTATATAAAGTGCAGTTCAATGATGTATCATCCCAATCATTCAAATCCATCCAGCTATTTTGCAGC... |
Task1_train_19083 | The gene SACS (sacsin molecular chaperone) on Chromosome 13 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Charlevoix-Saguenay spastic ataxia | AACCAGAGACATACATAGACTCTTATCTAACAAACTGCTAAGCTTTGGTTATATAAAGTGCAGTTCAATGATGTATCATCCCAATCATTCAAATCCATCCAGCTATTTTGCAGCTCACCACCATCTTCAAAATAGTTTTCTTTTAGATTCAGTTAAGGTTTTCCGTTGGTATTCATGTTCATAACAACTCCAGAATTCTCCAAGAACAATCTGCAATGTGCTTAACAATTCCTAGCTAATTGGCAATGAAGCTTAATGAAGTACAGCAATTTATTCGTGCTACAACACATTCAAGATCTACCTTTTTTTTCGTTAAATAT... | AACCAGAGACATACATAGACTCTTATCTAACAAACTGCTAAGCTTTGGTTATATAAAGTGCAGTTCAATGATGTATCATCCCAATCATTCAAATCCATCCAGCTATTTTGCAGCTCACCACCATCTTCAAAATAGTTTTCTTTTAGATTCAGTTAAGGTTTTCCGTTGGTATTCATGTTCATAACAACTCCAGAATTCTCCAAGAACAATCTGCAATGTGCTTAACAATTCCTAGCTAATTGGCAATGAAGCTTAATGAAGTACAGCAATTTATTCGTGCTACAACACATTCAAGATCTACCTTTTTTTTCGTTAAATAT... |
Task1_train_19084 | This variant affects the gene SACS (sacsin molecular chaperone) found on Chromosome 13. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Charlevoix-Saguenay spastic ataxia | ATAATGTGGCGCATCGTCAAACACTAAGATGCTTGACTTTACCAATCTACCATCCTGGCTTGGGAGGTAAAGCGCAAGGTCTCGTACATTCTCGAGATCACTCCTCACCTTGACTGAATCATTCTGTAGACTCCTGAACAGACCAGAAACTACTCTCTTAACTGTACGCATTTCATTAGGATCTAATTGTTTGCCCTCAGAATTTTTAAATATGCGGCTCAACACTTCAACATATTGCTTAGTTGAAATAATATCTTCAGTACCTAAGTGTTTGAACAACTGGTGAAATGTGCCAAGTTCTAAAGGTAGCTTGTACAAAT... | ATAATGTGGCGCATCGTCAAACACTAAGATGCTTGACTTTACCAATCTACCATCCTGGCTTGGGAGGTAAAGCGCAAGGTCTCGTACATTCTCGAGATCACTCCTCACCTTGACTGAATCATTCTGTAGACTCCTGAACAGACCAGAAACTACTCTCTTAACTGTACGCATTTCATTAGGATCTAATTGTTTGCCCTCAGAATTTTTAAATATGCGGCTCAACACTTCAACATATTGCTTAGTTGAAATAATATCTTCAGTACCTAAGTGTTTGAACAACTGGTGAAATGTGCCAAGTTCTAAAGGTAGCTTGTACAAAT... |
Task1_train_19085 | The gene SACS (sacsin molecular chaperone) is located on Chromosome 13, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Spastic paraplegia | CTCAAAATCATTTTCTACTAATTTTTCTGCTCTAAATGTTGAAGTTTGGACCATATAATGTAGAGCCTTCAAGATGCTTGTGGGGCTCTCTATATTTGCTGTGTGACATGACAACAAAGGAACAAATGCACTGTCTTTGGAACAGATTTTGTTCAAAGCAAGCTGAATACAGCCAGCTTTCATTAGAGCATGAAAAACTTTATCACTCTGGGCATTTGGAAAAACTGCAATGTGCATAAGGCTGAGAGGAAGCAGAACATCTCCTTCAGGAACCACAAGCTGGTTGGCTGAAACAGTAAACTTTGTTCCTGGAAGCAATG... | CTCAAAATCATTTTCTACTAATTTTTCTGCTCTAAATGTTGAAGTTTGGACCATATAATGTAGAGCCTTCAAGATGCTTGTGGGGCTCTCTATATTTGCTGTGTGACATGACAACAAAGGAACAAATGCACTGTCTTTGGAACAGATTTTGTTCAAAGCAAGCTGAATACAGCCAGCTTTCATTAGAGCATGAAAAACTTTATCACTCTGGGCATTTGGAAAAACTGCAATGTGCATAAGGCTGAGAGGAAGCAGAACATCTCCTTCAGGAACCACAAGCTGGTTGGCTGAAACAGTAAACTTTGTTCCTGGAAGCAATG... |
Task1_train_19086 | Consider this mutation in SACS (sacsin molecular chaperone) on Chromosome 13. Is this a benign change or a disease-causing variant? | Pathogenic; Charlevoix-Saguenay spastic ataxia | CTCAAAATCATTTTCTACTAATTTTTCTGCTCTAAATGTTGAAGTTTGGACCATATAATGTAGAGCCTTCAAGATGCTTGTGGGGCTCTCTATATTTGCTGTGTGACATGACAACAAAGGAACAAATGCACTGTCTTTGGAACAGATTTTGTTCAAAGCAAGCTGAATACAGCCAGCTTTCATTAGAGCATGAAAAACTTTATCACTCTGGGCATTTGGAAAAACTGCAATGTGCATAAGGCTGAGAGGAAGCAGAACATCTCCTTCAGGAACCACAAGCTGGTTGGCTGAAACAGTAAACTTTGTTCCTGGAAGCAATG... | CTCAAAATCATTTTCTACTAATTTTTCTGCTCTAAATGTTGAAGTTTGGACCATATAATGTAGAGCCTTCAAGATGCTTGTGGGGCTCTCTATATTTGCTGTGTGACATGACAACAAAGGAACAAATGCACTGTCTTTGGAACAGATTTTGTTCAAAGCAAGCTGAATACAGCCAGCTTTCATTAGAGCATGAAAAACTTTATCACTCTGGGCATTTGGAAAAACTGCAATGTGCATAAGGCTGAGAGGAAGCAGAACATCTCCTTCAGGAACCACAAGCTGGTTGGCTGAAACAGTAAACTTTGTTCCTGGAAGCAATG... |
Task1_train_19087 | The variant affects gene SACS (sacsin molecular chaperone), which is on Chromosome 13. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Charlevoix-Saguenay spastic ataxia | GAGAGGAAAATGTCATTAAAAAAGATCTGATATCAGCAGGGGTCACATAACTAACAGGAATATCTGCATCTATAAGACAGTGGTAAAGATTAGCAGTTTCATCACAGTTATAAACCAAGTTGAAACCAATTTCTAAAAGGAGATGTTTCAGCCTATAGACATTCTCTGCTACTGTTTTGCGTGTGGTGATATTATAATCTGCATTTTTAAGGTGTTGTAATTCATCCTGTAGTAAATTGTCAAAAAATGGTCTAGTTTTATTAGAAGTAGACATATTGATCCAAGTAATTATAACTGCAGAGTGCAAGTCAGAGCCATCA... | GAGAGGAAAATGTCATTAAAAAAGATCTGATATCAGCAGGGGTCACATAACTAACAGGAATATCTGCATCTATAAGACAGTGGTAAAGATTAGCAGTTTCATCACAGTTATAAACCAAGTTGAAACCAATTTCTAAAAGGAGATGTTTCAGCCTATAGACATTCTCTGCTACTGTTTTGCGTGTGGTGATATTATAATCTGCATTTTTAAGGTGTTGTAATTCATCCTGTAGTAAATTGTCAAAAAATGGTCTAGTTTTATTAGAAGTAGACATATTGATCCAAGTAATTATAACTGCAGAGTGCAAGTCAGAGCCATCA... |
Task1_train_19088 | The gene SACS (sacsin molecular chaperone) on Chromosome 13 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Charlevoix-Saguenay spastic ataxia | AGAATTGAATCCTATTCCATACTGTCCAGTTTTATAAGGATTTCCCTCTTTCGTGCCTTTTCCAAGATTCTGAATTCCTCTAACATCATCTTCTGTAAATGGCTGGTTGTTGTACACACAAAGTGCTGGCCCTTGCAATGGGGCCCACTTATCATCAAATATTCTATCAACTGGATGCTGTCTAGGATCAAACACAAAACAGATTTCTGTCGCCTTTGCATCATCAGCATTTTGAAGAAGCTCTTTCAACATTTCCTTTTCAGAAGGATATGCATTAAGGATGCTCTTAATTCTGCTGGTCAATTTTTCTTTCTGCCCAA... | AGAATTGAATCCTATTCCATACTGTCCAGTTTTATAAGGATTTCCCTCTTTCGTGCCTTTTCCAAGATTCTGAATTCCTCTAACATCATCTTCTGTAAATGGCTGGTTGTTGTACACACAAAGTGCTGGCCCTTGCAATGGGGCCCACTTATCATCAAATATTCTATCAACTGGATGCTGTCTAGGATCAAACACAAAACAGATTTCTGTCGCCTTTGCATCATCAGCATTTTGAAGAAGCTCTTTCAACATTTCCTTTTCAGAAGGATATGCATTAAGGATGCTCTTAATTCTGCTGGTCAATTTTTCTTTCTGCCCAA... |
Task1_train_19089 | The gene SACS (sacsin molecular chaperone) on Chromosome 13 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Spastic paraplegia | AGAATTGAATCCTATTCCATACTGTCCAGTTTTATAAGGATTTCCCTCTTTCGTGCCTTTTCCAAGATTCTGAATTCCTCTAACATCATCTTCTGTAAATGGCTGGTTGTTGTACACACAAAGTGCTGGCCCTTGCAATGGGGCCCACTTATCATCAAATATTCTATCAACTGGATGCTGTCTAGGATCAAACACAAAACAGATTTCTGTCGCCTTTGCATCATCAGCATTTTGAAGAAGCTCTTTCAACATTTCCTTTTCAGAAGGATATGCATTAAGGATGCTCTTAATTCTGCTGGTCAATTTTTCTTTCTGCCCAA... | AGAATTGAATCCTATTCCATACTGTCCAGTTTTATAAGGATTTCCCTCTTTCGTGCCTTTTCCAAGATTCTGAATTCCTCTAACATCATCTTCTGTAAATGGCTGGTTGTTGTACACACAAAGTGCTGGCCCTTGCAATGGGGCCCACTTATCATCAAATATTCTATCAACTGGATGCTGTCTAGGATCAAACACAAAACAGATTTCTGTCGCCTTTGCATCATCAGCATTTTGAAGAAGCTCTTTCAACATTTCCTTTTCAGAAGGATATGCATTAAGGATGCTCTTAATTCTGCTGGTCAATTTTTCTTTCTGCCCAA... |
Task1_train_19090 | The gene SACS (sacsin molecular chaperone), on Chromosome 13, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Charlevoix-Saguenay spastic ataxia | TCCTCTAACATCATCTTCTGTAAATGGCTGGTTGTTGTACACACAAAGTGCTGGCCCTTGCAATGGGGCCCACTTATCATCAAATATTCTATCAACTGGATGCTGTCTAGGATCAAACACAAAACAGATTTCTGTCGCCTTTGCATCATCAGCATTTTGAAGAAGCTCTTTCAACATTTCCTTTTCAGAAGGATATGCATTAAGGATGCTCTTAATTCTGCTGGTCAATTTTTCTTTCTGCCCAAATTCTGTGCCAAGTGTTGTAAAACAGACATTGGATGCATATCTTTCTAAGGCTTTGTGTCGCTTTGGGACTGCTC... | TCCTCTAACATCATCTTCTGTAAATGGCTGGTTGTTGTACACACAAAGTGCTGGCCCTTGCAATGGGGCCCACTTATCATCAAATATTCTATCAACTGGATGCTGTCTAGGATCAAACACAAAACAGATTTCTGTCGCCTTTGCATCATCAGCATTTTGAAGAAGCTCTTTCAACATTTCCTTTTCAGAAGGATATGCATTAAGGATGCTCTTAATTCTGCTGGTCAATTTTTCTTTCTGCCCAAATTCTGTGCCAAGTGTTGTAAAACAGACATTGGATGCATATCTTTCTAAGGCTTTGTGTCGCTTTGGGACTGCTC... |
Task1_train_19091 | This variant affects gene SACS (sacsin molecular chaperone) located on Chromosome 13. Evaluate its biological effect and specify any disease association. | Pathogenic; Charlevoix-Saguenay spastic ataxia | GCAAAAGACAAACTATATCTTGATGTTCAGCTGTATAAAGGTCAGTTGCTGCAAACATGGTTTCAGGCTTAAAACTGTTGCCTTTCCAGTCCAAAGAAAAACCTGCTGGTTTTGTCAGAAATGGAAGGAAGCGGATTGTTTGATATTTTGCAGCAAAATCCTTTGCTCTAGGATCCCTTATTTTTAGTTTCTCATCGATAAGACTCAATAAGATACTACTTCTTAGGCATGCAGCAACATGATCACTTTTATTAATTTCAGCTACTGACACTGCACGTTCTAGCATATCATCCCATAAAATATCATCTTTTGCCATACCT... | GCAAAAGACAAACTATATCTTGATGTTCAGCTGTATAAAGGTCAGTTGCTGCAAACATGGTTTCAGGCTTAAAACTGTTGCCTTTCCAGTCCAAAGAAAAACCTGCTGGTTTTGTCAGAAATGGAAGGAAGCGGATTGTTTGATATTTTGCAGCAAAATCCTTTGCTCTAGGATCCCTTATTTTTAGTTTCTCATCGATAAGACTCAATAAGATACTACTTCTTAGGCATGCAGCAACATGATCACTTTTATTAATTTCAGCTACTGACACTGCACGTTCTAGCATATCATCCCATAAAATATCATCTTTTGCCATACCT... |
Task1_train_19092 | The following genetic variant occurs in SACS (sacsin molecular chaperone) on Chromosome 13. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Charlevoix-Saguenay spastic ataxia | GACAAACTATATCTTGATGTTCAGCTGTATAAAGGTCAGTTGCTGCAAACATGGTTTCAGGCTTAAAACTGTTGCCTTTCCAGTCCAAAGAAAAACCTGCTGGTTTTGTCAGAAATGGAAGGAAGCGGATTGTTTGATATTTTGCAGCAAAATCCTTTGCTCTAGGATCCCTTATTTTTAGTTTCTCATCGATAAGACTCAATAAGATACTACTTCTTAGGCATGCAGCAACATGATCACTTTTATTAATTTCAGCTACTGACACTGCACGTTCTAGCATATCATCCCATAAAATATCATCTTTTGCCATACCTAACTGA... | GACAAACTATATCTTGATGTTCAGCTGTATAAAGGTCAGTTGCTGCAAACATGGTTTCAGGCTTAAAACTGTTGCCTTTCCAGTCCAAAGAAAAACCTGCTGGTTTTGTCAGAAATGGAAGGAAGCGGATTGTTTGATATTTTGCAGCAAAATCCTTTGCTCTAGGATCCCTTATTTTTAGTTTCTCATCGATAAGACTCAATAAGATACTACTTCTTAGGCATGCAGCAACATGATCACTTTTATTAATTTCAGCTACTGACACTGCACGTTCTAGCATATCATCCCATAAAATATCATCTTTTGCCATACCTAACTGA... |
Task1_train_19093 | The following genetic variant occurs in SACS (sacsin molecular chaperone) on Chromosome 13. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Charlevoix-Saguenay spastic ataxia | ATGTGTTTTCAAGTAGTATCTGTTTGCAGCCAGCTTCTTCAAATCCTAATTTTACCGAAGAAGGAAGTTCAACAGCACAAAGGTTTTTGGACCCAGTCTTCTTGAGGTATTTCAAAAATATCTTGAAGGCTGCTGAACCAACATCTCTTCTTTTAAGTATAGAGTCATCTAGAAATCTTACGTTCTTCATGGAAACCCAAGTAGATCCATCAGAGAAGACTTTGGTCAGTTCTTTCCCTTTTCCATGAGCTATATCTTCATAAAATCCTTGGCAAATTACAGAAAAATCATCATGAACTAAATCAGGATCGGGCCATACT... | ATGTGTTTTCAAGTAGTATCTGTTTGCAGCCAGCTTCTTCAAATCCTAATTTTACCGAAGAAGGAAGTTCAACAGCACAAAGGTTTTTGGACCCAGTCTTCTTGAGGTATTTCAAAAATATCTTGAAGGCTGCTGAACCAACATCTCTTCTTTTAAGTATAGAGTCATCTAGAAATCTTACGTTCTTCATGGAAACCCAAGTAGATCCATCAGAGAAGACTTTGGTCAGTTCTTTCCCTTTTCCATGAGCTATATCTTCATAAAATCCTTGGCAAATTACAGAAAAATCATCATGAACTAAATCAGGATCGGGCCATACT... |
Task1_train_19094 | A sequence alteration has been identified in SACS (sacsin molecular chaperone) on Chromosome 13. Is it disease-inducing or harmless? | Pathogenic; Charlevoix-Saguenay spastic ataxia | TAGCAGCCTCTTTTAAAACACTTAAGACAGGTGTGTTCAATGCTTTGGAAGAGCAGGATTTTTTTTTAATTATTACTGTATCTTGTGCTAAACTGGGGTTGGTTTCCTCAATTTTCAAGTACTTCAAATACATTGACTTTACACTCTGAGTGAAAATGATAAGCCTGTGTCCACAGAGACTAAATTCATCCACAAGAGAATAAATATCTGCTGTATTGTAGCACGTACTACTAACTTCACTCACTTTTGCTTCCTGTTGAGTTCTAAAGGACAGTCGGAAAAGGGTTCCATTATAGCTGTAAGGTGCTTCTACAGTCAAA... | TAGCAGCCTCTTTTAAAACACTTAAGACAGGTGTGTTCAATGCTTTGGAAGAGCAGGATTTTTTTTTAATTATTACTGTATCTTGTGCTAAACTGGGGTTGGTTTCCTCAATTTTCAAGTACTTCAAATACATTGACTTTACACTCTGAGTGAAAATGATAAGCCTGTGTCCACAGAGACTAAATTCATCCACAAGAGAATAAATATCTGCTGTATTGTAGCACGTACTACTAACTTCACTCACTTTTGCTTCCTGTTGAGTTCTAAAGGACAGTCGGAAAAGGGTTCCATTATAGCTGTAAGGTGCTTCTACAGTCAAA... |
Task1_train_19095 | A mutation on Chromosome 13 affecting SACS (sacsin molecular chaperone) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Spastic paraplegia | AAATATCTTAAAACACAAAAAGTTTATTAGCTTGAGCCATAAGAAATTGTTGATTTATAGGTCTAAAATGAATAACAGAAAACTTTTAAAAAACTTGTATTTTTATATAGAAGTTTATTTAAAAGAATACTAAACTATAATACCTCGGGTTTGGGCAGCTTCCTTTAAAGCAGCCACAAGGTGAGGTTTCAAGTTATCCAAAATAAATCTTCCTTCAAGACTTGGGAAAAGGGACCTGAAAAGGGAAAGGAACAGCAATCATCATAATCTTCCCACAATTCCAAGATTTTAAAAAAACAATCACATATTTTCAAGTCAGT... | AAATATCTTAAAACACAAAAAGTTTATTAGCTTGAGCCATAAGAAATTGTTGATTTATAGGTCTAAAATGAATAACAGAAAACTTTTAAAAAACTTGTATTTTTATATAGAAGTTTATTTAAAAGAATACTAAACTATAATACCTCGGGTTTGGGCAGCTTCCTTTAAAGCAGCCACAAGGTGAGGTTTCAAGTTATCCAAAATAAATCTTCCTTCAAGACTTGGGAAAAGGGACCTGAAAAGGGAAAGGAACAGCAATCATCATAATCTTCCCACAATTCCAAGATTTTAAAAAAACAATCACATATTTTCAAGTCAGT... |
Task1_train_19096 | This gene mutation involves CPAP, RNF17 (centrosome assembly and centriole elongation protein| ring finger protein 17) on Chromosome 13. Is it associated with any clinical condition, or is it benign? | Pathogenic; Microcephaly 6, primary, autosomal recessive | GATACATCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATATATATAGATACATCTATATAGATATATAGATACATCTATATAGATAGATACATCTATATAGATAGATACATCTATATAGATAGATACATCTATATAGATATATAGATACATCTATATAGATAGATATAGATACATCTATATAGATAGATATATAGATACATCTATATATAGATACATCTGTACTTATATTCTTCAAAAAGTTTTATTTTTCATATTCAGTTAAGTCACCTGGAATTGATAGATTTCATTAACAAAACCTGATTC... | GATACATCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATATATATAGATACATCTATATAGATATATAGATACATCTATATAGATAGATACATCTATATAGATAGATACATCTATATAGATAGATACATCTATATAGATATATAGATACATCTATATAGATAGATATAGATACATCTATATAGATAGATATATAGATACATCTATATATAGATACATCTGTACTTATATTCTTCAAAAAGTTTTATTTTTCATATTCAGTTAAGTCACCTGGAATTGATAGATTTCATTAACAAAACCTGATTC... |
Task1_train_19097 | Here is a mutation in RNF17, CPAP (ring finger protein 17| centrosome assembly and centriole elongation protein) on Chromosome 13. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Microcephaly 6, primary, autosomal recessive | CAGTTAAGTCACCTGGAATTGATAGATTTCATTAACAAAACCTGATTCATAGTATATGTGACAGGTAAGGTCTATCTAGACCAATCTGTAATTATTTATTATATAAATTTACAAGTAAGTAAGTAAGTGACTTGCCCATCCTTCAGGGACATCTTGCTTCCATGAGGCTACAGTAATCTCACTGTGGTAACATCAGGGTAGCTGTGGTCCATGGGTTAACACTGGCTAGTCATCGTTCATGCCCCCCTCCACTCTCAAGTATCCCATTTTGAGACATTACATTACAAAGTCAGCCTTGTTATAACTGCTTTCTCTTCACC... | CAGTTAAGTCACCTGGAATTGATAGATTTCATTAACAAAACCTGATTCATAGTATATGTGACAGGTAAGGTCTATCTAGACCAATCTGTAATTATTTATTATATAAATTTACAAGTAAGTAAGTAAGTGACTTGCCCATCCTTCAGGGACATCTTGCTTCCATGAGGCTACAGTAATCTCACTGTGGTAACATCAGGGTAGCTGTGGTCCATGGGTTAACACTGGCTAGTCATCGTTCATGCCCCCCTCCACTCTCAAGTATCCCATTTTGAGACATTACATTACAAAGTCAGCCTTGTTATAACTGCTTTCTCTTCACC... |
Task1_train_19098 | This genomic variant is located on Chromosome 13, within the ATP8A2 (ATPase phospholipid transporting 8A2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | TCTAGTCAAACACAGAAATGTCACTCCAGCGTACCTCCATTTCCTCTCCTGCTTGGTGCTGTCATTGTTATATTCCATTTATCTGTGTTGTCAACTCCAAAATAGTGTTATAATAATTTGTGTCTCTTAAAGAAGCTAAAGGAAAAAAGAAAAAAAGTATATTGATAGTGTTTTTTGTTGTTGTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCACCCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTATG... | TCTAGTCAAACACAGAAATGTCACTCCAGCGTACCTCCATTTCCTCTCCTGCTTGGTGCTGTCATTGTTATATTCCATTTATCTGTGTTGTCAACTCCAAAATAGTGTTATAATAATTTGTGTCTCTTAAAGAAGCTAAAGGAAAAAAGAAAAAAAGTATATTGATAGTGTTTTTTGTTGTTGTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCACCCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTATG... |
Task1_train_19099 | Here is a mutation in RNF6 (ring finger protein 6) on Chromosome 13. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Esophageal squamous cell carcinoma, somatic | TGCTTGCTGTCTAATAAGTTAGATTGTCAGAGACGCTTCAGTAAATTATCTCTACTTTAAAATTATATCTGAATCCCCTTTCTCTGAGATGAACTTGCCAATATTAAACATTGTGCCATATGCAGTATTAGCCCAAAAGCTTAAATAAGAACCAAACTTGTAGACTGAATATTTTAACCTTAAAATTATATACCTATATATACACCTATGGTATGCTGCATATTAAATTTAACATTTCAAGTAACATATATATAGCAAACATTCAGCCAAATACTCTTTCATGAAAAGATACTGTCCTTAAAATAAAAAGTTAATGAAAA... | TGCTTGCTGTCTAATAAGTTAGATTGTCAGAGACGCTTCAGTAAATTATCTCTACTTTAAAATTATATCTGAATCCCCTTTCTCTGAGATGAACTTGCCAATATTAAACATTGTGCCATATGCAGTATTAGCCCAAAAGCTTAAATAAGAACCAAACTTGTAGACTGAATATTTTAACCTTAAAATTATATACCTATATATACACCTATGGTATGCTGCATATTAAATTTAACATTTCAAGTAACATATATATAGCAAACATTCAGCCAAATACTCTTTCATGAAAAGATACTGTCCTTAAAATAAAAAGTTAATGAAAA... |
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