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_27600 | A change on Chromosome 20 affects gene SLC52A3 (solute carrier family 52 member 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Brown-Vialetto-van Laere syndrome 1 | GCCGGGCAGCAGGGGGCTGCTTTCTCCTCTAGATACCCCTGGCCCTGGCTGCTGTCCACCGTGCCTGCAGGGCCCAAGTCATTCTCTTCCCGCGGCCGGATGGAGTGGAGGGTGACCTGGTCATTGAGGAGGTCTTCCACGGAAGCCTCCCAGCACCTGGGTTGACGCTGGAGGACAAAGAACGCCACGAGGCAGCAGGCCATCATGATGGATAGGAGGAGGAAGAAGACCAGGGGTGAGAAGTGGGCGGGAAGGTAGCGGCTCTCCAGGTGGGACAAGGGTGCTTCCATTCCGGGGAGGGCGGACACCAAAGCTCTGGG... | GCCGGGCAGCAGGGGGCTGCTTTCTCCTCTAGATACCCCTGGCCCTGGCTGCTGTCCACCGTGCCTGCAGGGCCCAAGTCATTCTCTTCCCGCGGCCGGATGGAGTGGAGGGTGACCTGGTCATTGAGGAGGTCTTCCACGGAAGCCTCCCAGCACCTGGGTTGACGCTGGAGGACAAAGAACGCCACGAGGCAGCAGGCCATCATGATGGATAGGAGGAGGAAGAAGACCAGGGGTGAGAAGTGGGCGGGAAGGTAGCGGCTCTCCAGGTGGGACAAGGGTGCTTCCATTCCGGGGAGGGCGGACACCAAAGCTCTGGG... |
Task1_train_27601 | The gene RSPO4 (R-spondin 4) on Chromosome 20 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Anonychia | CCGTGGGAGCCCAGAAGCAGCATGGGTTGGGTTGTAGGGGAGGAAACCCCTGGACTGGGTCTTGAAGTGGGGGTGGGATGGCGGGGAAGGGGAGCCTAGCCAGGCTCAGGGAGGGACGGGAGGTGCTCCAAGTGAGGGCATAACCCCAGCAGAGTCCCCAGGATGATTTGGCCTGGAACTGGGCAAGCCGGAGAATAAGCTCAAACTGAGGAGGAAAAAAATGATGGGGGTGGAAAGGCTGGCAGATGGGACAGATTGCCCAGGGCCTGGGTGGGCTCCGCCCAAGGGCAGTGGGAGCCACTGAAGGGTCCTGGGAGGAA... | CCGTGGGAGCCCAGAAGCAGCATGGGTTGGGTTGTAGGGGAGGAAACCCCTGGACTGGGTCTTGAAGTGGGGGTGGGATGGCGGGGAAGGGGAGCCTAGCCAGGCTCAGGGAGGGACGGGAGGTGCTCCAAGTGAGGGCATAACCCCAGCAGAGTCCCCAGGATGATTTGGCCTGGAACTGGGCAAGCCGGAGAATAAGCTCAAACTGAGGAGGAAAAAAATGATGGGGGTGGAAAGGCTGGCAGATGGGACAGATTGCCCAGGGCCTGGGTGGGCTCCGCCCAAGGGCAGTGGGAGCCACTGAAGGGTCCTGGGAGGAA... |
Task1_train_27602 | This variant lies on Chromosome 20 and affects the gene RSPO4 (R-spondin 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Anonychia | TAGGGGAGGAAACCCCTGGACTGGGTCTTGAAGTGGGGGTGGGATGGCGGGGAAGGGGAGCCTAGCCAGGCTCAGGGAGGGACGGGAGGTGCTCCAAGTGAGGGCATAACCCCAGCAGAGTCCCCAGGATGATTTGGCCTGGAACTGGGCAAGCCGGAGAATAAGCTCAAACTGAGGAGGAAAAAAATGATGGGGGTGGAAAGGCTGGCAGATGGGACAGATTGCCCAGGGCCTGGGTGGGCTCCGCCCAAGGGCAGTGGGAGCCACTGAAGGGTCCTGGGAGGAAAAGAAATTGAGCAGACTATCATTGTGAAATACTC... | TAGGGGAGGAAACCCCTGGACTGGGTCTTGAAGTGGGGGTGGGATGGCGGGGAAGGGGAGCCTAGCCAGGCTCAGGGAGGGACGGGAGGTGCTCCAAGTGAGGGCATAACCCCAGCAGAGTCCCCAGGATGATTTGGCCTGGAACTGGGCAAGCCGGAGAATAAGCTCAAACTGAGGAGGAAAAAAATGATGGGGGTGGAAAGGCTGGCAGATGGGACAGATTGCCCAGGGCCTGGGTGGGCTCCGCCCAAGGGCAGTGGGAGCCACTGAAGGGTCCTGGGAGGAAAAGAAATTGAGCAGACTATCATTGTGAAATACTC... |
Task1_train_27603 | This sequence change occurs on Chromosome 20, altering RSPO4 (R-spondin 4). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Anonychia | GGGTGAGGGAGAGAGAAGAGTCAACAGCGATGTCTGCATCTCGCGCATGCCACCCAGGGATCAGGGAGCTGGTTATTGAAACCCAGAGGAAACCCAGAGGGAGCGTTAGGTGGGGGATGGTGGCAGTGGGAGTGGAAAGAAGGCACCCAGAGGGCAGTGGAGGTGAGGATCAGCTGCTCAGGGAGGCTGGAGACACGGAGTCAGGGGCCATCAGCAGCTGGAATGACCATGAATGTGAGCCCGGAGGGAATGCGTGGGCAGAGAGGCACAGTGTAGATGAGAATGCCAAGGAGCAGCCTAGTGCAGGAACGGGAGGGCTC... | GGGTGAGGGAGAGAGAAGAGTCAACAGCGATGTCTGCATCTCGCGCATGCCACCCAGGGATCAGGGAGCTGGTTATTGAAACCCAGAGGAAACCCAGAGGGAGCGTTAGGTGGGGGATGGTGGCAGTGGGAGTGGAAAGAAGGCACCCAGAGGGCAGTGGAGGTGAGGATCAGCTGCTCAGGGAGGCTGGAGACACGGAGTCAGGGGCCATCAGCAGCTGGAATGACCATGAATGTGAGCCCGGAGGGAATGCGTGGGCAGAGAGGCACAGTGTAGATGAGAATGCCAAGGAGCAGCCTAGTGCAGGAACGGGAGGGCTC... |
Task1_train_27604 | A change on Chromosome 20 affects gene RSPO4 (R-spondin 4). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Anonychia | GTCAACAGCGATGTCTGCATCTCGCGCATGCCACCCAGGGATCAGGGAGCTGGTTATTGAAACCCAGAGGAAACCCAGAGGGAGCGTTAGGTGGGGGATGGTGGCAGTGGGAGTGGAAAGAAGGCACCCAGAGGGCAGTGGAGGTGAGGATCAGCTGCTCAGGGAGGCTGGAGACACGGAGTCAGGGGCCATCAGCAGCTGGAATGACCATGAATGTGAGCCCGGAGGGAATGCGTGGGCAGAGAGGCACAGTGTAGATGAGAATGCCAAGGAGCAGCCTAGTGCAGGAACGGGAGGGCTCACAGGCAGGAGTGTGACAA... | GTCAACAGCGATGTCTGCATCTCGCGCATGCCACCCAGGGATCAGGGAGCTGGTTATTGAAACCCAGAGGAAACCCAGAGGGAGCGTTAGGTGGGGGATGGTGGCAGTGGGAGTGGAAAGAAGGCACCCAGAGGGCAGTGGAGGTGAGGATCAGCTGCTCAGGGAGGCTGGAGACACGGAGTCAGGGGCCATCAGCAGCTGGAATGACCATGAATGTGAGCCCGGAGGGAATGCGTGGGCAGAGAGGCACAGTGTAGATGAGAATGCCAAGGAGCAGCCTAGTGCAGGAACGGGAGGGCTCACAGGCAGGAGTGTGACAA... |
Task1_train_27605 | Chromosome 20 houses a mutation in gene RSPO4 (R-spondin 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Anonychia | CAGCGATGTCTGCATCTCGCGCATGCCACCCAGGGATCAGGGAGCTGGTTATTGAAACCCAGAGGAAACCCAGAGGGAGCGTTAGGTGGGGGATGGTGGCAGTGGGAGTGGAAAGAAGGCACCCAGAGGGCAGTGGAGGTGAGGATCAGCTGCTCAGGGAGGCTGGAGACACGGAGTCAGGGGCCATCAGCAGCTGGAATGACCATGAATGTGAGCCCGGAGGGAATGCGTGGGCAGAGAGGCACAGTGTAGATGAGAATGCCAAGGAGCAGCCTAGTGCAGGAACGGGAGGGCTCACAGGCAGGAGTGTGACAAGGAGC... | CAGCGATGTCTGCATCTCGCGCATGCCACCCAGGGATCAGGGAGCTGGTTATTGAAACCCAGAGGAAACCCAGAGGGAGCGTTAGGTGGGGGATGGTGGCAGTGGGAGTGGAAAGAAGGCACCCAGAGGGCAGTGGAGGTGAGGATCAGCTGCTCAGGGAGGCTGGAGACACGGAGTCAGGGGCCATCAGCAGCTGGAATGACCATGAATGTGAGCCCGGAGGGAATGCGTGGGCAGAGAGGCACAGTGTAGATGAGAATGCCAAGGAGCAGCCTAGTGCAGGAACGGGAGGGCTCACAGGCAGGAGTGTGACAAGGAGC... |
Task1_train_27606 | Consider a variant on Chromosome 20 in gene RSPO4 (R-spondin 4). Determine its clinical classification and disease relevance. | Pathogenic; Anonychia | GATGTCTGCATCTCGCGCATGCCACCCAGGGATCAGGGAGCTGGTTATTGAAACCCAGAGGAAACCCAGAGGGAGCGTTAGGTGGGGGATGGTGGCAGTGGGAGTGGAAAGAAGGCACCCAGAGGGCAGTGGAGGTGAGGATCAGCTGCTCAGGGAGGCTGGAGACACGGAGTCAGGGGCCATCAGCAGCTGGAATGACCATGAATGTGAGCCCGGAGGGAATGCGTGGGCAGAGAGGCACAGTGTAGATGAGAATGCCAAGGAGCAGCCTAGTGCAGGAACGGGAGGGCTCACAGGCAGGAGTGTGACAAGGAGCTGTT... | GATGTCTGCATCTCGCGCATGCCACCCAGGGATCAGGGAGCTGGTTATTGAAACCCAGAGGAAACCCAGAGGGAGCGTTAGGTGGGGGATGGTGGCAGTGGGAGTGGAAAGAAGGCACCCAGAGGGCAGTGGAGGTGAGGATCAGCTGCTCAGGGAGGCTGGAGACACGGAGTCAGGGGCCATCAGCAGCTGGAATGACCATGAATGTGAGCCCGGAGGGAATGCGTGGGCAGAGAGGCACAGTGTAGATGAGAATGCCAAGGAGCAGCCTAGTGCAGGAACGGGAGGGCTCACAGGCAGGAGTGTGACAAGGAGCTGTT... |
Task1_train_27607 | This variant affects gene PDYN-AS1, PDYN (PDYN antisense RNA 1| prodynorphin) located on Chromosome 20. Evaluate its biological effect and specify any disease association. | Pathogenic; Spinocerebellar ataxia type 23 | TACTGTGTACCAGGATCTTTGCATATATGAGCTCCTCTAATCCTCACAGCAACTCTACAAAATTGGCACTATTAGTCTTTATTTTATGGAGGCAGGAACTAAGGCTGAGAGAAGCCAAATGGCTTACTCAAGGTCGCACAGATCCAATGTTCCAATTTAAAGCTGTGACACTTCACAGTTTTTGCTCTTTCTGTTATCCCACACTTGGTTTTCCAACCTGAATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAACTCTTCTTTATTCCCTAGCACTCTTTTCTGCAAATTTTTTTTCTCTCTGAGGACTGAGGCTCA... | TACTGTGTACCAGGATCTTTGCATATATGAGCTCCTCTAATCCTCACAGCAACTCTACAAAATTGGCACTATTAGTCTTTATTTTATGGAGGCAGGAACTAAGGCTGAGAGAAGCCAAATGGCTTACTCAAGGTCGCACAGATCCAATGTTCCAATTTAAAGCTGTGACACTTCACAGTTTTTGCTCTTTCTGTTATCCCACACTTGGTTTTCCAACCTGAATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAACTCTTCTTTATTCCCTAGCACTCTTTTCTGCAAATTTTTTTTCTCTCTGAGGACTGAGGCTCA... |
Task1_train_27608 | The gene PDYN, PDYN-AS1 (prodynorphin| PDYN antisense RNA 1) is located on Chromosome 20, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Spinocerebellar ataxia type 23 | CCAGGATCTTTGCATATATGAGCTCCTCTAATCCTCACAGCAACTCTACAAAATTGGCACTATTAGTCTTTATTTTATGGAGGCAGGAACTAAGGCTGAGAGAAGCCAAATGGCTTACTCAAGGTCGCACAGATCCAATGTTCCAATTTAAAGCTGTGACACTTCACAGTTTTTGCTCTTTCTGTTATCCCACACTTGGTTTTCCAACCTGAATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAACTCTTCTTTATTCCCTAGCACTCTTTTCTGCAAATTTTTTTTCTCTCTGAGGACTGAGGCTCACACACATGT... | CCAGGATCTTTGCATATATGAGCTCCTCTAATCCTCACAGCAACTCTACAAAATTGGCACTATTAGTCTTTATTTTATGGAGGCAGGAACTAAGGCTGAGAGAAGCCAAATGGCTTACTCAAGGTCGCACAGATCCAATGTTCCAATTTAAAGCTGTGACACTTCACAGTTTTTGCTCTTTCTGTTATCCCACACTTGGTTTTCCAACCTGAATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAACTCTTCTTTATTCCCTAGCACTCTTTTCTGCAAATTTTTTTTCTCTCTGAGGACTGAGGCTCACACACATGT... |
Task1_train_27609 | This gene mutation involves TGM6 (transglutaminase 6) on Chromosome 20. Is it associated with any clinical condition, or is it benign? | Pathogenic; Spinocerebellar ataxia type 35 | CTTTCTCTGTTCATTTAAAACTAGGGTTTTTTTTGCATTTTTGTGCTTTTTTTGTTGGTGATTTCTCTGTTTAAAATGGCCGCTGAGCATAGGACTGAAGTGCTGTCTCATGTTCCTAGGAGCAGGAAAGCTGCGACACGCCTTACACTAAAAATATGTGTTAGGTGAACATTCAGGCATGAACTATAGCGCTGCTGGCCACAAGTTCAATATTAATGAATCATCAATATATATTAAATTATGTTTGTTTGTTTTGAGAGGGAGAGTCTCGCTCTGTGGCCCAGGCTAGAGTGCAGTGGTGCAATCTGAGCTCACGGCAA... | CTTTCTCTGTTCATTTAAAACTAGGGTTTTTTTTGCATTTTTGTGCTTTTTTTGTTGGTGATTTCTCTGTTTAAAATGGCCGCTGAGCATAGGACTGAAGTGCTGTCTCATGTTCCTAGGAGCAGGAAAGCTGCGACACGCCTTACACTAAAAATATGTGTTAGGTGAACATTCAGGCATGAACTATAGCGCTGCTGGCCACAAGTTCAATATTAATGAATCATCAATATATATTAAATTATGTTTGTTTGTTTTGAGAGGGAGAGTCTCGCTCTGTGGCCCAGGCTAGAGTGCAGTGGTGCAATCTGAGCTCACGGCAA... |
Task1_train_27610 | The following genetic variant occurs in IDH3B (isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta) on Chromosome 20. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | GGGGAGGGAGAAAAGAGAGCCCATGAAGGGAGGTAGGGCAATGTGATTGAGGAAATGGAAGCCAAGAATGCGTGACAGCCAGAAAAAAGGCAATGCACAGGAATGGAAGGAGGAGCCAGGATGGGAAGCACATGGACCTGCCACTCCTCTTAAGCCACTATTAGCTGTGCTGCAGCCAGGGCAGGACAGGAGGCTGAGCAGGCAAAGATGATGGGAAACGCAGATCAGAGGCAGGATGTGGCTACCTTCCTTGGAAGAAATAGAGACAAGACCAGGTGGAAGGAAAGAATCACAGCGAAAAGGAGATGGGGCGTGAAGGT... | GGGGAGGGAGAAAAGAGAGCCCATGAAGGGAGGTAGGGCAATGTGATTGAGGAAATGGAAGCCAAGAATGCGTGACAGCCAGAAAAAAGGCAATGCACAGGAATGGAAGGAGGAGCCAGGATGGGAAGCACATGGACCTGCCACTCCTCTTAAGCCACTATTAGCTGTGCTGCAGCCAGGGCAGGACAGGAGGCTGAGCAGGCAAAGATGATGGGAAACGCAGATCAGAGGCAGGATGTGGCTACCTTCCTTGGAAGAAATAGAGACAAGACCAGGTGGAAGGAAAGAATCACAGCGAAAAGGAGATGGGGCGTGAAGGT... |
Task1_train_27611 | A variant affecting Chromosome 20, within the gene VPS16 (VPS16 core subunit of CORVET and HOPS complexes), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Dystonia 30 | ATAGAAAATAGATTGATTTTTGTTGATCACCCTATGCCCTCTGTGAGAGTCTCGTATTCATTGTTCCCTAGACTACTTTGGGTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGATGCTGTCTTGGCTCACTGCAGCCTCAACCTCCCAGGTTCAAGCGATCCTCCTGCCTCAGCCCCCCAAGTAGCTGGCATGCTACTTGTAACTACAGGCATGTGCCATCACATGCAGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCTCCATGTTGCCCAGGCCAGTCTCGGTCCACTGAGC... | ATAGAAAATAGATTGATTTTTGTTGATCACCCTATGCCCTCTGTGAGAGTCTCGTATTCATTGTTCCCTAGACTACTTTGGGTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGATGCTGTCTTGGCTCACTGCAGCCTCAACCTCCCAGGTTCAAGCGATCCTCCTGCCTCAGCCCCCCAAGTAGCTGGCATGCTACTTGTAACTACAGGCATGTGCCATCACATGCAGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCTCCATGTTGCCCAGGCCAGTCTCGGTCCACTGAGC... |
Task1_train_27612 | Here is a genetic alteration in AVP (arginine vasopressin) on Chromosome 20. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Neurohypophyseal diabetes insipidus | AGGGAGGTGGACATTTGGGCAAATTGGGGGTGGGCAGACATTCGTCACCCCTTCCAAGAAATAGTAGCCTGATTGTTTTGACAAAGACAAGTGGAGGGAAAGGAGTCTCTGAATCTGTATTTAGGAAGAGGAAGTTCCTGGACCTCATTCTAAAACTGTCCCCAAGTCCAGACACTAACACTTTGGATTGAATTCAGTGCAGCCAAGCCACCTGCCTCTTCCTATTTCCCAGTCTGGAAGAGTTAATAAATTCCTATTAGGTTTGGTCCTGCTCTAGCCCCAGCCAGATGGGGGATGGCCCTGAGTGGACAACATGAAAC... | AGGGAGGTGGACATTTGGGCAAATTGGGGGTGGGCAGACATTCGTCACCCCTTCCAAGAAATAGTAGCCTGATTGTTTTGACAAAGACAAGTGGAGGGAAAGGAGTCTCTGAATCTGTATTTAGGAAGAGGAAGTTCCTGGACCTCATTCTAAAACTGTCCCCAAGTCCAGACACTAACACTTTGGATTGAATTCAGTGCAGCCAAGCCACCTGCCTCTTCCTATTTCCCAGTCTGGAAGAGTTAATAAATTCCTATTAGGTTTGGTCCTGCTCTAGCCCCAGCCAGATGGGGGATGGCCCTGAGTGGACAACATGAAAC... |
Task1_train_27613 | The variant affects gene AVP (arginine vasopressin), which is on Chromosome 20. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Neurohypophyseal diabetes insipidus | GGGAGGTGGACATTTGGGCAAATTGGGGGTGGGCAGACATTCGTCACCCCTTCCAAGAAATAGTAGCCTGATTGTTTTGACAAAGACAAGTGGAGGGAAAGGAGTCTCTGAATCTGTATTTAGGAAGAGGAAGTTCCTGGACCTCATTCTAAAACTGTCCCCAAGTCCAGACACTAACACTTTGGATTGAATTCAGTGCAGCCAAGCCACCTGCCTCTTCCTATTTCCCAGTCTGGAAGAGTTAATAAATTCCTATTAGGTTTGGTCCTGCTCTAGCCCCAGCCAGATGGGGGATGGCCCTGAGTGGACAACATGAAACA... | GGGAGGTGGACATTTGGGCAAATTGGGGGTGGGCAGACATTCGTCACCCCTTCCAAGAAATAGTAGCCTGATTGTTTTGACAAAGACAAGTGGAGGGAAAGGAGTCTCTGAATCTGTATTTAGGAAGAGGAAGTTCCTGGACCTCATTCTAAAACTGTCCCCAAGTCCAGACACTAACACTTTGGATTGAATTCAGTGCAGCCAAGCCACCTGCCTCTTCCTATTTCCCAGTCTGGAAGAGTTAATAAATTCCTATTAGGTTTGGTCCTGCTCTAGCCCCAGCCAGATGGGGGATGGCCCTGAGTGGACAACATGAAACA... |
Task1_train_27614 | A mutation found in AVP (arginine vasopressin) on Chromosome 20 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Neurohypophyseal diabetes insipidus | TGGAAGAGTTAATAAATTCCTATTAGGTTTGGTCCTGCTCTAGCCCCAGCCAGATGGGGGATGGCCCTGAGTGGACAACATGAAACAGGAGCAGGAGGTCATGGCAGTGACCCAAGCCTGCATGGTCCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGC... | TGGAAGAGTTAATAAATTCCTATTAGGTTTGGTCCTGCTCTAGCCCCAGCCAGATGGGGGATGGCCCTGAGTGGACAACATGAAACAGGAGCAGGAGGTCATGGCAGTGACCCAAGCCTGCATGGTCCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGC... |
Task1_train_27615 | Here is a variant affecting AVP (arginine vasopressin) on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Neurohypophyseal diabetes insipidus | AATAAATTCCTATTAGGTTTGGTCCTGCTCTAGCCCCAGCCAGATGGGGGATGGCCCTGAGTGGACAACATGAAACAGGAGCAGGAGGTCATGGCAGTGACCCAAGCCTGCATGGTCCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCA... | AATAAATTCCTATTAGGTTTGGTCCTGCTCTAGCCCCAGCCAGATGGGGGATGGCCCTGAGTGGACAACATGAAACAGGAGCAGGAGGTCATGGCAGTGACCCAAGCCTGCATGGTCCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCA... |
Task1_train_27616 | This variant impacts the gene AVP (arginine vasopressin) on Chromosome 20. Is the change likely to result in a pathogenic outcome? | Pathogenic; AVP-related disorder | TAAATTCCTATTAGGTTTGGTCCTGCTCTAGCCCCAGCCAGATGGGGGATGGCCCTGAGTGGACAACATGAAACAGGAGCAGGAGGTCATGGCAGTGACCCAAGCCTGCATGGTCCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGG... | TAAATTCCTATTAGGTTTGGTCCTGCTCTAGCCCCAGCCAGATGGGGGATGGCCCTGAGTGGACAACATGAAACAGGAGCAGGAGGTCATGGCAGTGACCCAAGCCTGCATGGTCCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGG... |
Task1_train_27617 | A variant found in Chromosome 20 affects AVP (arginine vasopressin). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Neurohypophyseal diabetes insipidus | GGTTTGGTCCTGCTCTAGCCCCAGCCAGATGGGGGATGGCCCTGAGTGGACAACATGAAACAGGAGCAGGAGGTCATGGCAGTGACCCAAGCCTGCATGGTCCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACT... | GGTTTGGTCCTGCTCTAGCCCCAGCCAGATGGGGGATGGCCCTGAGTGGACAACATGAAACAGGAGCAGGAGGTCATGGCAGTGACCCAAGCCTGCATGGTCCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACT... |
Task1_train_27618 | Chromosome 20 houses a mutation in gene AVP (arginine vasopressin). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | TTTGGTCCTGCTCTAGCCCCAGCCAGATGGGGGATGGCCCTGAGTGGACAACATGAAACAGGAGCAGGAGGTCATGGCAGTGACCCAAGCCTGCATGGTCCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTC... | TTTGGTCCTGCTCTAGCCCCAGCCAGATGGGGGATGGCCCTGAGTGGACAACATGAAACAGGAGCAGGAGGTCATGGCAGTGACCCAAGCCTGCATGGTCCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTC... |
Task1_train_27619 | This sequence variant lies in AVP (arginine vasopressin) on Chromosome 20. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Neurohypophyseal diabetes insipidus | GGAGCAGGAGGTCATGGCAGTGACCCAAGCCTGCATGGTCCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGC... | GGAGCAGGAGGTCATGGCAGTGACCCAAGCCTGCATGGTCCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGC... |
Task1_train_27620 | Given a variant located on Chromosome 20 and affecting AVP (arginine vasopressin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | CCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGCCTCTTGTGGCTCCAAGACCTGGAGCAGGAAGCCCAAGGA... | CCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGCCTCTTGTGGCTCCAAGACCTGGAGCAGGAAGCCCAAGGA... |
Task1_train_27621 | A variant on Chromosome 20 in gene AVP (arginine vasopressin) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | CCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGCCTCTTGTGGCTCCAAGACCTGGAGCAGGAAGCCCAAGGAG... | CCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGCCTCTTGTGGCTCCAAGACCTGGAGCAGGAAGCCCAAGGAG... |
Task1_train_27622 | This alteration in AVP (arginine vasopressin) on Chromosome 20 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Neurohypophyseal diabetes insipidus | GACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGCCTCTTGTGGCTCCAAGACCTGGAGCAGGAAGCCCAAGGAGAGGATGCAGAGAAAAGA... | GACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGCCTCTTGTGGCTCCAAGACCTGGAGCAGGAAGCCCAAGGAGAGGATGCAGAGAAAAGA... |
Task1_train_27623 | Consider this mutation in AVP (arginine vasopressin) on Chromosome 20. Is this a benign change or a disease-causing variant? | Pathogenic; Neurohypophyseal diabetes insipidus | GAGGTTTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCC... | GAGGTTTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCC... |
Task1_train_27624 | A mutation found in AVP (arginine vasopressin) on Chromosome 20 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Neurohypophyseal diabetes insipidus | TTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACG... | TTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACG... |
Task1_train_27625 | A sequence alteration has been identified in AVP (arginine vasopressin) on Chromosome 20. Is it disease-inducing or harmless? | Pathogenic; Neurohypophyseal diabetes insipidus | TATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGC... | TATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGC... |
Task1_train_27626 | This mutation occurs in AVP (arginine vasopressin) on Chromosome 20. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Diabetes insipidus, neurohypophyseal, autosomal recessive | CGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCA... | CGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCA... |
Task1_train_27627 | Gene ITPA (inosine triphosphatase), found on Chromosome 20, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Inosine triphosphatase deficiency | GGCCAGGAGTTTGAGACCAGCCTGGGTAACATAGCCAGACCCTGTCTCAAAAATAAATAAATAGCCGGACATGGTGGTGCACACCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCCTCGGAGTTTGACGGGACAGTGAGCTATGATCGCACTCCTGCACTCCAGCCATGGAGTGACGGAGTGAGACCCAGTCTCAAAAAAAAAAAAAAAAAAACAAACCTTAATTATTTGCCCAAACTTATTCCTTCCGTGAGATGTATTCAACACCCCCTACTGCCTATCACTGCTCACGACAGCCTCCACC... | GGCCAGGAGTTTGAGACCAGCCTGGGTAACATAGCCAGACCCTGTCTCAAAAATAAATAAATAGCCGGACATGGTGGTGCACACCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCCTCGGAGTTTGACGGGACAGTGAGCTATGATCGCACTCCTGCACTCCAGCCATGGAGTGACGGAGTGAGACCCAGTCTCAAAAAAAAAAAAAAAAAAACAAACCTTAATTATTTGCCCAAACTTATTCCTTCCGTGAGATGTATTCAACACCCCCTACTGCCTATCACTGCTCACGACAGCCTCCACC... |
Task1_train_27628 | A variant was discovered in gene SLC4A11 (solute carrier family 4 member 11), Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Corneal dystrophy-perceptive deafness syndrome | AACTTGGGGTTTCTGAAGCTACCTCCTGGCAGGCAGCAGTTAGGTTGAATTGAATTGAATTGGTGGGCACCCAGCAGCTGTCCCGTGACAAATCCCTCGCGTGGTCACAGAAGTCTTCTGGGTTGACTGTTGTGCACAGTGAGAGCGGAGGAAAACGTTTTGAGTTGGTTTCTCCACACTCGCTACCCGTCCCCAGACAGCAGGGTGGAGAGCATGCTCATACCCACCTGGATTGGTTCTCGGGGCCCTGGGGGCTCCTGATCTCCCACTCAGCACCAGGCTACCCAGTGTAAGGTGGCGTCTCATGTGGGCTTACGTTT... | AACTTGGGGTTTCTGAAGCTACCTCCTGGCAGGCAGCAGTTAGGTTGAATTGAATTGAATTGGTGGGCACCCAGCAGCTGTCCCGTGACAAATCCCTCGCGTGGTCACAGAAGTCTTCTGGGTTGACTGTTGTGCACAGTGAGAGCGGAGGAAAACGTTTTGAGTTGGTTTCTCCACACTCGCTACCCGTCCCCAGACAGCAGGGTGGAGAGCATGCTCATACCCACCTGGATTGGTTCTCGGGGCCCTGGGGGCTCCTGATCTCCCACTCAGCACCAGGCTACCCAGTGTAAGGTGGCGTCTCATGTGGGCTTACGTTT... |
Task1_train_27629 | An alteration has been detected in SLC4A11 (solute carrier family 4 member 11) on Chromosome 20. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Corneal dystrophy, Fuchs endothelial, 4 | AACTTGGGGTTTCTGAAGCTACCTCCTGGCAGGCAGCAGTTAGGTTGAATTGAATTGAATTGGTGGGCACCCAGCAGCTGTCCCGTGACAAATCCCTCGCGTGGTCACAGAAGTCTTCTGGGTTGACTGTTGTGCACAGTGAGAGCGGAGGAAAACGTTTTGAGTTGGTTTCTCCACACTCGCTACCCGTCCCCAGACAGCAGGGTGGAGAGCATGCTCATACCCACCTGGATTGGTTCTCGGGGCCCTGGGGGCTCCTGATCTCCCACTCAGCACCAGGCTACCCAGTGTAAGGTGGCGTCTCATGTGGGCTTACGTTT... | AACTTGGGGTTTCTGAAGCTACCTCCTGGCAGGCAGCAGTTAGGTTGAATTGAATTGAATTGGTGGGCACCCAGCAGCTGTCCCGTGACAAATCCCTCGCGTGGTCACAGAAGTCTTCTGGGTTGACTGTTGTGCACAGTGAGAGCGGAGGAAAACGTTTTGAGTTGGTTTCTCCACACTCGCTACCCGTCCCCAGACAGCAGGGTGGAGAGCATGCTCATACCCACCTGGATTGGTTCTCGGGGCCCTGGGGGCTCCTGATCTCCCACTCAGCACCAGGCTACCCAGTGTAAGGTGGCGTCTCATGTGGGCTTACGTTT... |
Task1_train_27630 | A change on Chromosome 20 affects gene SLC4A11 (solute carrier family 4 member 11). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Congenital hereditary endothelial dystrophy of cornea | AACTTGGGGTTTCTGAAGCTACCTCCTGGCAGGCAGCAGTTAGGTTGAATTGAATTGAATTGGTGGGCACCCAGCAGCTGTCCCGTGACAAATCCCTCGCGTGGTCACAGAAGTCTTCTGGGTTGACTGTTGTGCACAGTGAGAGCGGAGGAAAACGTTTTGAGTTGGTTTCTCCACACTCGCTACCCGTCCCCAGACAGCAGGGTGGAGAGCATGCTCATACCCACCTGGATTGGTTCTCGGGGCCCTGGGGGCTCCTGATCTCCCACTCAGCACCAGGCTACCCAGTGTAAGGTGGCGTCTCATGTGGGCTTACGTTT... | AACTTGGGGTTTCTGAAGCTACCTCCTGGCAGGCAGCAGTTAGGTTGAATTGAATTGAATTGGTGGGCACCCAGCAGCTGTCCCGTGACAAATCCCTCGCGTGGTCACAGAAGTCTTCTGGGTTGACTGTTGTGCACAGTGAGAGCGGAGGAAAACGTTTTGAGTTGGTTTCTCCACACTCGCTACCCGTCCCCAGACAGCAGGGTGGAGAGCATGCTCATACCCACCTGGATTGGTTCTCGGGGCCCTGGGGGCTCCTGATCTCCCACTCAGCACCAGGCTACCCAGTGTAAGGTGGCGTCTCATGTGGGCTTACGTTT... |
Task1_train_27631 | Here’s a variant in SLC4A11 (solute carrier family 4 member 11) located on Chromosome 20. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | ACTTGGGGTTTCTGAAGCTACCTCCTGGCAGGCAGCAGTTAGGTTGAATTGAATTGAATTGGTGGGCACCCAGCAGCTGTCCCGTGACAAATCCCTCGCGTGGTCACAGAAGTCTTCTGGGTTGACTGTTGTGCACAGTGAGAGCGGAGGAAAACGTTTTGAGTTGGTTTCTCCACACTCGCTACCCGTCCCCAGACAGCAGGGTGGAGAGCATGCTCATACCCACCTGGATTGGTTCTCGGGGCCCTGGGGGCTCCTGATCTCCCACTCAGCACCAGGCTACCCAGTGTAAGGTGGCGTCTCATGTGGGCTTACGTTTC... | ACTTGGGGTTTCTGAAGCTACCTCCTGGCAGGCAGCAGTTAGGTTGAATTGAATTGAATTGGTGGGCACCCAGCAGCTGTCCCGTGACAAATCCCTCGCGTGGTCACAGAAGTCTTCTGGGTTGACTGTTGTGCACAGTGAGAGCGGAGGAAAACGTTTTGAGTTGGTTTCTCCACACTCGCTACCCGTCCCCAGACAGCAGGGTGGAGAGCATGCTCATACCCACCTGGATTGGTTCTCGGGGCCCTGGGGGCTCCTGATCTCCCACTCAGCACCAGGCTACCCAGTGTAAGGTGGCGTCTCATGTGGGCTTACGTTTC... |
Task1_train_27632 | Given this variant in gene SLC4A11 (solute carrier family 4 member 11) on Chromosome 20, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Corneal dystrophy-perceptive deafness syndrome | TAGGTTGAATTGAATTGAATTGGTGGGCACCCAGCAGCTGTCCCGTGACAAATCCCTCGCGTGGTCACAGAAGTCTTCTGGGTTGACTGTTGTGCACAGTGAGAGCGGAGGAAAACGTTTTGAGTTGGTTTCTCCACACTCGCTACCCGTCCCCAGACAGCAGGGTGGAGAGCATGCTCATACCCACCTGGATTGGTTCTCGGGGCCCTGGGGGCTCCTGATCTCCCACTCAGCACCAGGCTACCCAGTGTAAGGTGGCGTCTCATGTGGGCTTACGTTTCTCTAATTACCAAGGGGTCTGAGCACCTCTCGCTACTCCT... | TAGGTTGAATTGAATTGAATTGGTGGGCACCCAGCAGCTGTCCCGTGACAAATCCCTCGCGTGGTCACAGAAGTCTTCTGGGTTGACTGTTGTGCACAGTGAGAGCGGAGGAAAACGTTTTGAGTTGGTTTCTCCACACTCGCTACCCGTCCCCAGACAGCAGGGTGGAGAGCATGCTCATACCCACCTGGATTGGTTCTCGGGGCCCTGGGGGCTCCTGATCTCCCACTCAGCACCAGGCTACCCAGTGTAAGGTGGCGTCTCATGTGGGCTTACGTTTCTCTAATTACCAAGGGGTCTGAGCACCTCTCGCTACTCCT... |
Task1_train_27633 | Mutation context: Chromosome 20, Gene SLC4A11 (solute carrier family 4 member 11). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Corneal dystrophy, Fuchs endothelial, 4 | TAGGTTGAATTGAATTGAATTGGTGGGCACCCAGCAGCTGTCCCGTGACAAATCCCTCGCGTGGTCACAGAAGTCTTCTGGGTTGACTGTTGTGCACAGTGAGAGCGGAGGAAAACGTTTTGAGTTGGTTTCTCCACACTCGCTACCCGTCCCCAGACAGCAGGGTGGAGAGCATGCTCATACCCACCTGGATTGGTTCTCGGGGCCCTGGGGGCTCCTGATCTCCCACTCAGCACCAGGCTACCCAGTGTAAGGTGGCGTCTCATGTGGGCTTACGTTTCTCTAATTACCAAGGGGTCTGAGCACCTCTCGCTACTCCT... | TAGGTTGAATTGAATTGAATTGGTGGGCACCCAGCAGCTGTCCCGTGACAAATCCCTCGCGTGGTCACAGAAGTCTTCTGGGTTGACTGTTGTGCACAGTGAGAGCGGAGGAAAACGTTTTGAGTTGGTTTCTCCACACTCGCTACCCGTCCCCAGACAGCAGGGTGGAGAGCATGCTCATACCCACCTGGATTGGTTCTCGGGGCCCTGGGGGCTCCTGATCTCCCACTCAGCACCAGGCTACCCAGTGTAAGGTGGCGTCTCATGTGGGCTTACGTTTCTCTAATTACCAAGGGGTCTGAGCACCTCTCGCTACTCCT... |
Task1_train_27634 | A variant was discovered on Chromosome 20, affecting SLC4A11 (solute carrier family 4 member 11). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Congenital hereditary endothelial dystrophy of cornea | TAGGTTGAATTGAATTGAATTGGTGGGCACCCAGCAGCTGTCCCGTGACAAATCCCTCGCGTGGTCACAGAAGTCTTCTGGGTTGACTGTTGTGCACAGTGAGAGCGGAGGAAAACGTTTTGAGTTGGTTTCTCCACACTCGCTACCCGTCCCCAGACAGCAGGGTGGAGAGCATGCTCATACCCACCTGGATTGGTTCTCGGGGCCCTGGGGGCTCCTGATCTCCCACTCAGCACCAGGCTACCCAGTGTAAGGTGGCGTCTCATGTGGGCTTACGTTTCTCTAATTACCAAGGGGTCTGAGCACCTCTCGCTACTCCT... | TAGGTTGAATTGAATTGAATTGGTGGGCACCCAGCAGCTGTCCCGTGACAAATCCCTCGCGTGGTCACAGAAGTCTTCTGGGTTGACTGTTGTGCACAGTGAGAGCGGAGGAAAACGTTTTGAGTTGGTTTCTCCACACTCGCTACCCGTCCCCAGACAGCAGGGTGGAGAGCATGCTCATACCCACCTGGATTGGTTCTCGGGGCCCTGGGGGCTCCTGATCTCCCACTCAGCACCAGGCTACCCAGTGTAAGGTGGCGTCTCATGTGGGCTTACGTTTCTCTAATTACCAAGGGGTCTGAGCACCTCTCGCTACTCCT... |
Task1_train_27635 | This gene mutation involves SLC4A11 (solute carrier family 4 member 11) on Chromosome 20. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | TTTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCT... | TTTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCT... |
Task1_train_27636 | Given this variant in gene SLC4A11 (solute carrier family 4 member 11) on Chromosome 20, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Corneal dystrophy, Fuchs endothelial, 4 | TTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTC... | TTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTC... |
Task1_train_27637 | Here is a genetic alteration in SLC4A11 (solute carrier family 4 member 11) on Chromosome 20. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Congenital hereditary endothelial dystrophy of cornea | TTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTC... | TTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTC... |
Task1_train_27638 | Gene SLC4A11 (solute carrier family 4 member 11) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Corneal dystrophy-perceptive deafness syndrome | TTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTC... | TTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTC... |
Task1_train_27639 | Assess the clinical impact of this variant on gene SLC4A11 (solute carrier family 4 member 11), found on Chromosome 20. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Congenital hereditary endothelial dystrophy of cornea | TTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTC... | TTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTC... |
Task1_train_27640 | A genomic change on Chromosome 20 affects SLC4A11 (solute carrier family 4 member 11). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Corneal dystrophy, Fuchs endothelial, 4 | CTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGA... | CTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGA... |
Task1_train_27641 | The following genetic variant occurs in SLC4A11 (solute carrier family 4 member 11) on Chromosome 20. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Congenital hereditary endothelial dystrophy of cornea | CTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAG... | CTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAG... |
Task1_train_27642 | Given this variant in gene SLC4A11 (solute carrier family 4 member 11) on Chromosome 20, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Corneal dystrophy-perceptive deafness syndrome | CTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCC... | CTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCC... |
Task1_train_27643 | Located on Chromosome 20, this mutation impacts SLC4A11 (solute carrier family 4 member 11). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Congenital hereditary endothelial dystrophy of cornea | CTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTC... | CTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTC... |
Task1_train_27644 | Consider this mutation in SLC4A11 (solute carrier family 4 member 11) on Chromosome 20. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | AGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCAC... | AGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCAC... |
Task1_train_27645 | This variant affects gene SLC4A11 (solute carrier family 4 member 11) located on Chromosome 20. Evaluate its biological effect and specify any disease association. | Pathogenic; Corneal dystrophy-perceptive deafness syndrome | GTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACA... | GTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACA... |
Task1_train_27646 | This variant affects gene SLC4A11 (solute carrier family 4 member 11) located on Chromosome 20. Evaluate its biological effect and specify any disease association. | Pathogenic; Corneal dystrophy, Fuchs endothelial, 4 | GTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACA... | GTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACA... |
Task1_train_27647 | Here is a variant affecting SLC4A11 (solute carrier family 4 member 11) on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Corneal dystrophy-perceptive deafness syndrome | GTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACA... | GTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACA... |
Task1_train_27648 | This variant affects the gene SLC4A11 (solute carrier family 4 member 11) found on Chromosome 20. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Congenital hereditary endothelial dystrophy of cornea | GTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACA... | GTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACA... |
Task1_train_27649 | A variant on Chromosome 20 in gene SLC4A11 (solute carrier family 4 member 11) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Corneal dystrophy-perceptive deafness syndrome | CCTCAAGCAATCCATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGG... | CCTCAAGCAATCCATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGG... |
Task1_train_27650 | A variant found in Chromosome 20 affects SLC4A11 (solute carrier family 4 member 11). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Corneal dystrophy-perceptive deafness syndrome | CTCAAGCAATCCATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGT... | CTCAAGCAATCCATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGT... |
Task1_train_27651 | The gene SLC4A11 (solute carrier family 4 member 11) is located on Chromosome 20, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | ATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGA... | ATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGA... |
Task1_train_27652 | This sequence variant lies in LOC130065345, PANK2 (ATAC-STARR-seq lymphoblastoid silent region 12635| pantothenate kinase 2) on Chromosome 20. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not specified | CAGGTGCCCACCACCACGCCCAACTAATTTTTGTGTTTGTTTTTTTTAGTAGAGACGGGGTTTCCCTGTGTTGGCCAGGCTGGTCTCGGACTCCTGACCTTGTGATTCGCACGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTTGAGCCACTGCGCCCGGCCGCTTTCTTTTGGTTATCATAAGGCGGGCAGTAGCTGAACTTCTCAGGAGTCCAAGCTCTGTCATTCTTTAGGCTTTGTGCTTCTGGATAAGTTACCTCATCATCCAAATGTTACTGCAAGGACTAAGTGAGATGTAGAGGCAGTGGGCAAATTG... | CAGGTGCCCACCACCACGCCCAACTAATTTTTGTGTTTGTTTTTTTTAGTAGAGACGGGGTTTCCCTGTGTTGGCCAGGCTGGTCTCGGACTCCTGACCTTGTGATTCGCACGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTTGAGCCACTGCGCCCGGCCGCTTTCTTTTGGTTATCATAAGGCGGGCAGTAGCTGAACTTCTCAGGAGTCCAAGCTCTGTCATTCTTTAGGCTTTGTGCTTCTGGATAAGTTACCTCATCATCCAAATGTTACTGCAAGGACTAAGTGAGATGTAGAGGCAGTGGGCAAATTG... |
Task1_train_27653 | Gene LOC130065345, PANK2 (ATAC-STARR-seq lymphoblastoid silent region 12635| pantothenate kinase 2), found on Chromosome 20, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Pigmentary pallidal degeneration | CAGGTGCCCACCACCACGCCCAACTAATTTTTGTGTTTGTTTTTTTTAGTAGAGACGGGGTTTCCCTGTGTTGGCCAGGCTGGTCTCGGACTCCTGACCTTGTGATTCGCACGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTTGAGCCACTGCGCCCGGCCGCTTTCTTTTGGTTATCATAAGGCGGGCAGTAGCTGAACTTCTCAGGAGTCCAAGCTCTGTCATTCTTTAGGCTTTGTGCTTCTGGATAAGTTACCTCATCATCCAAATGTTACTGCAAGGACTAAGTGAGATGTAGAGGCAGTGGGCAAATTG... | CAGGTGCCCACCACCACGCCCAACTAATTTTTGTGTTTGTTTTTTTTAGTAGAGACGGGGTTTCCCTGTGTTGGCCAGGCTGGTCTCGGACTCCTGACCTTGTGATTCGCACGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTTGAGCCACTGCGCCCGGCCGCTTTCTTTTGGTTATCATAAGGCGGGCAGTAGCTGAACTTCTCAGGAGTCCAAGCTCTGTCATTCTTTAGGCTTTGTGCTTCTGGATAAGTTACCTCATCATCCAAATGTTACTGCAAGGACTAAGTGAGATGTAGAGGCAGTGGGCAAATTG... |
Task1_train_27654 | This variant lies on Chromosome 20 and affects the gene PANK2 (pantothenate kinase 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Pigmentary pallidal degeneration | TGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCTCCTCATCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCTAAACCCACATCTTTAGTAATTTCTACGATTTAGATTGGGAGGGGAAGCATGTACAGATGCTTTTTGACTTACGATGTTTATGCTACATTCCATAAACCCATCAGAAGTTCAAAATACTGTAAATCAGGCTGGGCGCAGTGGTTCACACTTGTAATCCCAGCACTTTGGGAGGCTGACCTGGGTGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCAACATGGGGAAA... | TGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCTCCTCATCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCTAAACCCACATCTTTAGTAATTTCTACGATTTAGATTGGGAGGGGAAGCATGTACAGATGCTTTTTGACTTACGATGTTTATGCTACATTCCATAAACCCATCAGAAGTTCAAAATACTGTAAATCAGGCTGGGCGCAGTGGTTCACACTTGTAATCCCAGCACTTTGGGAGGCTGACCTGGGTGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCAACATGGGGAAA... |
Task1_train_27655 | A variant affecting Chromosome 20, within the gene PANK2 (pantothenate kinase 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Pigmentary pallidal degeneration | TCTTGAACTCCTGACCTCAGGTGATCTGCCCTCCTCATCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCTAAACCCACATCTTTAGTAATTTCTACGATTTAGATTGGGAGGGGAAGCATGTACAGATGCTTTTTGACTTACGATGTTTATGCTACATTCCATAAACCCATCAGAAGTTCAAAATACTGTAAATCAGGCTGGGCGCAGTGGTTCACACTTGTAATCCCAGCACTTTGGGAGGCTGACCTGGGTGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCAACATGGGGAAACCC... | TCTTGAACTCCTGACCTCAGGTGATCTGCCCTCCTCATCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCTAAACCCACATCTTTAGTAATTTCTACGATTTAGATTGGGAGGGGAAGCATGTACAGATGCTTTTTGACTTACGATGTTTATGCTACATTCCATAAACCCATCAGAAGTTCAAAATACTGTAAATCAGGCTGGGCGCAGTGGTTCACACTTGTAATCCCAGCACTTTGGGAGGCTGACCTGGGTGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCAACATGGGGAAACCC... |
Task1_train_27656 | A variant was discovered in gene PANK2 (pantothenate kinase 2), Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Pigmentary pallidal degeneration | TCCATAAACCCATCAGAAGTTCAAAATACTGTAAATCAGGCTGGGCGCAGTGGTTCACACTTGTAATCCCAGCACTTTGGGAGGCTGACCTGGGTGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCAACATGGGGAAACCCTGTTTCTACAAAAAATACAAAAATTAGGTGGGTGTGGTGGCATGCACCTTTAGTCCCAGCTGCTCAGGAGGCTGAGATAGGAGGATTACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGGCGTTGCATTCTAGCCTGGGTGACAGTGAGACCTTACCTCAAA... | TCCATAAACCCATCAGAAGTTCAAAATACTGTAAATCAGGCTGGGCGCAGTGGTTCACACTTGTAATCCCAGCACTTTGGGAGGCTGACCTGGGTGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCAACATGGGGAAACCCTGTTTCTACAAAAAATACAAAAATTAGGTGGGTGTGGTGGCATGCACCTTTAGTCCCAGCTGCTCAGGAGGCTGAGATAGGAGGATTACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGGCGTTGCATTCTAGCCTGGGTGACAGTGAGACCTTACCTCAAA... |
Task1_train_27657 | This variant impacts the gene PANK2 (pantothenate kinase 2) on Chromosome 20. Is the change likely to result in a pathogenic outcome? | Pathogenic; Neurodegeneration | GGCTGGGCGCAGTGGTTCACACTTGTAATCCCAGCACTTTGGGAGGCTGACCTGGGTGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCAACATGGGGAAACCCTGTTTCTACAAAAAATACAAAAATTAGGTGGGTGTGGTGGCATGCACCTTTAGTCCCAGCTGCTCAGGAGGCTGAGATAGGAGGATTACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGGCGTTGCATTCTAGCCTGGGTGACAGTGAGACCTTACCTCAAAAAAGAGAAAAAGAAAATACTGTAAGTCAAAATGCATTT... | GGCTGGGCGCAGTGGTTCACACTTGTAATCCCAGCACTTTGGGAGGCTGACCTGGGTGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCAACATGGGGAAACCCTGTTTCTACAAAAAATACAAAAATTAGGTGGGTGTGGTGGCATGCACCTTTAGTCCCAGCTGCTCAGGAGGCTGAGATAGGAGGATTACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGGCGTTGCATTCTAGCCTGGGTGACAGTGAGACCTTACCTCAAAAAAGAGAAAAAGAAAATACTGTAAGTCAAAATGCATTT... |
Task1_train_27658 | This mutation occurs in PANK2 (pantothenate kinase 2) on Chromosome 20. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | GGCTGGGCGCAGTGGTTCACACTTGTAATCCCAGCACTTTGGGAGGCTGACCTGGGTGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCAACATGGGGAAACCCTGTTTCTACAAAAAATACAAAAATTAGGTGGGTGTGGTGGCATGCACCTTTAGTCCCAGCTGCTCAGGAGGCTGAGATAGGAGGATTACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGGCGTTGCATTCTAGCCTGGGTGACAGTGAGACCTTACCTCAAAAAAGAGAAAAAGAAAATACTGTAAGTCAAAATGCATTT... | GGCTGGGCGCAGTGGTTCACACTTGTAATCCCAGCACTTTGGGAGGCTGACCTGGGTGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCAACATGGGGAAACCCTGTTTCTACAAAAAATACAAAAATTAGGTGGGTGTGGTGGCATGCACCTTTAGTCCCAGCTGCTCAGGAGGCTGAGATAGGAGGATTACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGGCGTTGCATTCTAGCCTGGGTGACAGTGAGACCTTACCTCAAAAAAGAGAAAAAGAAAATACTGTAAGTCAAAATGCATTT... |
Task1_train_27659 | This mutation occurs in PANK2 (pantothenate kinase 2) on Chromosome 20. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Pigmentary pallidal degeneration | ATAATTAAAATCATTTCATGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACC... | ATAATTAAAATCATTTCATGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACC... |
Task1_train_27660 | A variant has been detected on Chromosome 20 in PANK2 (pantothenate kinase 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Neurodegeneration | TGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTC... | TGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTC... |
Task1_train_27661 | A genomic change on Chromosome 20 affects PANK2 (pantothenate kinase 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Pigmentary pallidal degeneration | TGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTC... | TGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTC... |
Task1_train_27662 | The following genetic variant occurs in PANK2 (pantothenate kinase 2) on Chromosome 20. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | TGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTC... | TGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTC... |
Task1_train_27663 | Here’s a variant in PANK2 (pantothenate kinase 2) located on Chromosome 20. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Pigmentary pallidal degeneration | GGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGA... | GGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGA... |
Task1_train_27664 | This mutation occurs in PANK2 (pantothenate kinase 2) on Chromosome 20. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Pigmentary pallidal degeneration | TGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGG... | TGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGG... |
Task1_train_27665 | Given this variant in gene PANK2 (pantothenate kinase 2) on Chromosome 20, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Retinitis pigmentosa | CTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTT... | CTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTT... |
Task1_train_27666 | A mutation on Chromosome 20 affecting PANK2 (pantothenate kinase 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Pigmentary pallidal degeneration | GGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGA... | GGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGA... |
Task1_train_27667 | This variant lies on Chromosome 20 and affects the gene PANK2 (pantothenate kinase 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Pigmentary pallidal degeneration | GTGAGCCACTGTGCCCAGCCCGAACATCTTTTCATGTGTTTACTGGCCATCTGTCTGTAGTCTTTGGATAAATGTCTGCTGAAGTCTATTGCTAAGTTTTTAGTTGGATTGTCTTTTTATTATTGAGTTCTGGATACAAGTCCCTTATTAGATACATAATTCGCAAATGTTTTGTCCCATTTTGTTAGTTGTCTTTTCACTTCCTTGATGGTGTCCTTTGCAGCATGGAAATTTTAAATTTTGATGAAGTTAATCTTATCTATCTTCTGTCACTTGTGCTTTTGGTGTTATGTGTAAGAAATCTAAGATCATGAAGAATT... | GTGAGCCACTGTGCCCAGCCCGAACATCTTTTCATGTGTTTACTGGCCATCTGTCTGTAGTCTTTGGATAAATGTCTGCTGAAGTCTATTGCTAAGTTTTTAGTTGGATTGTCTTTTTATTATTGAGTTCTGGATACAAGTCCCTTATTAGATACATAATTCGCAAATGTTTTGTCCCATTTTGTTAGTTGTCTTTTCACTTCCTTGATGGTGTCCTTTGCAGCATGGAAATTTTAAATTTTGATGAAGTTAATCTTATCTATCTTCTGTCACTTGTGCTTTTGGTGTTATGTGTAAGAAATCTAAGATCATGAAGAATT... |
Task1_train_27668 | The gene PANK2 (pantothenate kinase 2) on Chromosome 20 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Pigmentary pallidal degeneration | CTGAAGTCTATTGCTAAGTTTTTAGTTGGATTGTCTTTTTATTATTGAGTTCTGGATACAAGTCCCTTATTAGATACATAATTCGCAAATGTTTTGTCCCATTTTGTTAGTTGTCTTTTCACTTCCTTGATGGTGTCCTTTGCAGCATGGAAATTTTAAATTTTGATGAAGTTAATCTTATCTATCTTCTGTCACTTGTGCTTTTGGTGTTATGTGTAAGAAATCTAAGATCATGAAGAATTGCCTAATTTAAGATCATGAAGAATTGTTTATTTTCTTTTAAGAGTTTTATAGTTTTAGCTCATATATATATATGTGTG... | CTGAAGTCTATTGCTAAGTTTTTAGTTGGATTGTCTTTTTATTATTGAGTTCTGGATACAAGTCCCTTATTAGATACATAATTCGCAAATGTTTTGTCCCATTTTGTTAGTTGTCTTTTCACTTCCTTGATGGTGTCCTTTGCAGCATGGAAATTTTAAATTTTGATGAAGTTAATCTTATCTATCTTCTGTCACTTGTGCTTTTGGTGTTATGTGTAAGAAATCTAAGATCATGAAGAATTGCCTAATTTAAGATCATGAAGAATTGTTTATTTTCTTTTAAGAGTTTTATAGTTTTAGCTCATATATATATATGTGTG... |
Task1_train_27669 | Here’s a variant in PANK2 (pantothenate kinase 2) located on Chromosome 20. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Pigmentary pallidal degeneration | GCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTC... | GCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTC... |
Task1_train_27670 | Gene PANK2 (pantothenate kinase 2) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | GCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTC... | GCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTC... |
Task1_train_27671 | Chromosome 20 houses a mutation in gene PANK2 (pantothenate kinase 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Inborn genetic diseases | GCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTC... | GCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTC... |
Task1_train_27672 | This is a variant in PANK2 (pantothenate kinase 2), located on Chromosome 20. Is this mutation a likely cause of disease or not? | Pathogenic; Pigmentary pallidal degeneration | GCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTC... | GCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTC... |
Task1_train_27673 | A mutation in PANK2 (pantothenate kinase 2), located on Chromosome 20, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | GCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTC... | GCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTC... |
Task1_train_27674 | Consider a variant on Chromosome 20 in gene PANK2 (pantothenate kinase 2). Determine its clinical classification and disease relevance. | Pathogenic; Retinitis pigmentosa | GCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTC... | GCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTC... |
Task1_train_27675 | A variant has been detected on Chromosome 20 in MIR103A2, MIR103B2, PANK2 (microRNA 103a-2| microRNA 103b-2| pantothenate kinase 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Inborn genetic diseases | AATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAG... | AATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAG... |
Task1_train_27676 | The gene MIR103A2, MIR103B2, PANK2 (microRNA 103a-2| microRNA 103b-2| pantothenate kinase 2) on Chromosome 20 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | AATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAG... | AATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAG... |
Task1_train_27677 | Consider a variant on Chromosome 20 in gene MIR103A2, MIR103B2, PANK2 (microRNA 103a-2| microRNA 103b-2| pantothenate kinase 2). Determine its clinical classification and disease relevance. | Pathogenic; Pigmentary pallidal degeneration | AATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAG... | AATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAG... |
Task1_train_27678 | Gene PANK2 (pantothenate kinase 2) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | GTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACT... | GTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACT... |
Task1_train_27679 | Gene PRNP (prion protein (Kanno blood group)), found on Chromosome 20, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Spongiform encephalopathy with neuropsychiatric features | TAGGTAGAGTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAA... | TAGGTAGAGTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAA... |
Task1_train_27680 | Consider this mutation in PRNP (prion protein (Kanno blood group)) on Chromosome 20. Is this a benign change or a disease-causing variant? | Pathogenic; Huntington disease-like 1 | TAGGTAGAGTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAA... | TAGGTAGAGTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAA... |
Task1_train_27681 | The gene PRNP (prion protein (Kanno blood group)) is located on Chromosome 20, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Inherited Creutzfeldt-Jakob disease | TAGGTAGAGTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAA... | TAGGTAGAGTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAA... |
Task1_train_27682 | Given a variant located on Chromosome 20 and affecting PRNP (prion protein (Kanno blood group)), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Spongiform encephalopathy with neuropsychiatric features | GTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAG... | GTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAG... |
Task1_train_27683 | A variant was discovered in gene PRNP (prion protein (Kanno blood group)), Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | GTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAG... | GTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAG... |
Task1_train_27684 | The gene PRNP (prion protein (Kanno blood group)) on Chromosome 20 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Inborn genetic diseases | TGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGG... | TGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGG... |
Task1_train_27685 | This variant affects gene PRNP (prion protein (Kanno blood group)) located on Chromosome 20. Evaluate its biological effect and specify any disease association. | Pathogenic; Inborn genetic diseases | ATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATG... | ATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATG... |
Task1_train_27686 | A mutation on Chromosome 20 affecting PRNP (prion protein (Kanno blood group)) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Gerstmann-Straussler-Scheinker syndrome | AACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAG... | AACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAG... |
Task1_train_27687 | A genomic change on Chromosome 20 affects PRNP (prion protein (Kanno blood group)). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Huntington disease-like 1 | AGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAG... | AGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAG... |
Task1_train_27688 | This variant impacts the gene PRNP (prion protein (Kanno blood group)) on Chromosome 20. Is the change likely to result in a pathogenic outcome? | Pathogenic; Fatal familial insomnia | AGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAG... | AGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAG... |
Task1_train_27689 | A variant found in Chromosome 20 affects PRNP (prion protein (Kanno blood group)). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Spongiform encephalopathy with neuropsychiatric features | AGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAG... | AGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAG... |
Task1_train_27690 | Here is a variant affecting PRNP (prion protein (Kanno blood group)) on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Gerstmann-Straussler-Scheinker syndrome | AGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAG... | AGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAG... |
Task1_train_27691 | This is a variant in PRNP (prion protein (Kanno blood group)), located on Chromosome 20. Is this mutation a likely cause of disease or not? | Pathogenic; Huntington disease-like 1 | AGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAG... | AGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAG... |
Task1_train_27692 | Assess the clinical impact of this variant on gene PRNP (prion protein (Kanno blood group)), found on Chromosome 20. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Huntington disease-like 1 | TGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGG... | TGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGG... |
Task1_train_27693 | This alteration in PRNP (prion protein (Kanno blood group)) on Chromosome 20 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Gerstmann-Straussler-Scheinker syndrome | TTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGT... | TTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGT... |
Task1_train_27694 | A variant on Chromosome 20 in gene PRNP (prion protein (Kanno blood group)) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Spongiform encephalopathy with neuropsychiatric features | TTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGT... | TTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGT... |
Task1_train_27695 | Here is a mutation in PRNP (prion protein (Kanno blood group)) on Chromosome 20. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Huntington disease-like 1 | GGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGG... | GGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGG... |
Task1_train_27696 | Here’s a variant in PRNP (prion protein (Kanno blood group)) located on Chromosome 20. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Inherited Creutzfeldt-Jakob disease | AGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAG... | AGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAG... |
Task1_train_27697 | A variant was discovered in gene PRNP (prion protein (Kanno blood group)), Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Huntington disease-like 1 | AGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAG... | AGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAG... |
Task1_train_27698 | A variant was discovered on Chromosome 20, affecting PRNP (prion protein (Kanno blood group)). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Spongiform encephalopathy with neuropsychiatric features | AGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAG... | AGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAG... |
Task1_train_27699 | This gene mutation involves PRNP (prion protein (Kanno blood group)) on Chromosome 20. Is it associated with any clinical condition, or is it benign? | Pathogenic; Huntington disease-like 1 | AGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAG... | AGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAG... |
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