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_30100 | A variant on Chromosome X in gene AR (androgen receptor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Androgen resistance syndrome | GGAAGGCCTAGGATCTAAAAGAAAAGAACAGGGAAATGGGGCTATATGAGTGGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTC... | GGAAGGCCTAGGATCTAAAAGAAAAGAACAGGGAAATGGGGCTATATGAGTGGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTC... |
Task1_train_30101 | Here is a genetic alteration in AR (androgen receptor) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Malignant tumor of prostate | GGAAGGCCTAGGATCTAAAAGAAAAGAACAGGGAAATGGGGCTATATGAGTGGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTC... | GGAAGGCCTAGGATCTAAAAGAAAAGAACAGGGAAATGGGGCTATATGAGTGGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTC... |
Task1_train_30102 | This sequence variant lies in AR (androgen receptor) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Malignant tumor of prostate | GGCCTAGGATCTAAAAGAAAAGAACAGGGAAATGGGGCTATATGAGTGGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGG... | GGCCTAGGATCTAAAAGAAAAGAACAGGGAAATGGGGCTATATGAGTGGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGG... |
Task1_train_30103 | A variant on Chromosome X in gene AR (androgen receptor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Kennedy disease | GATCTAAAAGAAAAGAACAGGGAAATGGGGCTATATGAGTGGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTG... | GATCTAAAAGAAAAGAACAGGGAAATGGGGCTATATGAGTGGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTG... |
Task1_train_30104 | A variant found in Chromosome X affects AR (androgen receptor). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Androgen resistance syndrome | GATCTAAAAGAAAAGAACAGGGAAATGGGGCTATATGAGTGGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTG... | GATCTAAAAGAAAAGAACAGGGAAATGGGGCTATATGAGTGGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTG... |
Task1_train_30105 | Mutation context: Chromosome X, Gene AR (androgen receptor). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Malignant tumor of prostate | GATCTAAAAGAAAAGAACAGGGAAATGGGGCTATATGAGTGGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTG... | GATCTAAAAGAAAAGAACAGGGAAATGGGGCTATATGAGTGGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTG... |
Task1_train_30106 | The gene AR (androgen receptor) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Partial androgen insensitivity syndrome | TATATGAGTGGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAG... | TATATGAGTGGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAG... |
Task1_train_30107 | A sequence alteration has been identified in AR (androgen receptor) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Androgen resistance syndrome | ATGAGTGGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGA... | ATGAGTGGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGA... |
Task1_train_30108 | This variant affects gene AR (androgen receptor) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Kennedy disease | ATGAGTGGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGA... | ATGAGTGGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGA... |
Task1_train_30109 | Here is a mutation in AR (androgen receptor) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | AGTGGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAA... | AGTGGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAA... |
Task1_train_30110 | A change on Chromosome X affects gene AR (androgen receptor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Androgen resistance syndrome | GGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTT... | GGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTT... |
Task1_train_30111 | A variant on Chromosome X in gene AR (androgen receptor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Kennedy disease | GGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTT... | GGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTT... |
Task1_train_30112 | This variant affects the gene AR (androgen receptor) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Androgen resistance syndrome | GGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTT... | GGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTT... |
Task1_train_30113 | A mutation found in AR (androgen receptor) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Androgen resistance syndrome | GCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGA... | GCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGA... |
Task1_train_30114 | This gene mutation involves AR (androgen receptor) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Kennedy disease | GCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGA... | GCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGA... |
Task1_train_30115 | Consider a variant on Chromosome X in gene AR (androgen receptor). Determine its clinical classification and disease relevance. | Pathogenic; Kennedy disease | GTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTA... | GTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTA... |
Task1_train_30116 | A genomic change on Chromosome X affects AR (androgen receptor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Androgen resistance syndrome | GTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTA... | GTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTA... |
Task1_train_30117 | This variant impacts the gene AR (androgen receptor) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Male infertility | TGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGAT... | TGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGAT... |
Task1_train_30118 | Here is a variant affecting AR (androgen receptor) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Androgen resistance syndrome | TGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGAT... | TGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGAT... |
Task1_train_30119 | The gene AR (androgen receptor) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Kennedy disease | TGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGAT... | TGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGAT... |
Task1_train_30120 | Assess the clinical impact of this variant on gene AR (androgen receptor), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Androgen resistance syndrome | TGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGAT... | TGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGAT... |
Task1_train_30121 | Gene AR (androgen receptor) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hypospadias 1, X-linked | TGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGAT... | TGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGAT... |
Task1_train_30122 | The gene AR (androgen receptor) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Partial androgen insensitivity syndrome | TGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGAT... | TGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGAT... |
Task1_train_30123 | The gene AR (androgen receptor) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Kennedy disease | TGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGAT... | TGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGAT... |
Task1_train_30124 | A variant on Chromosome X in gene AR (androgen receptor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Prostate cancer, hereditary, X-linked 3 | TGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGAT... | TGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGAT... |
Task1_train_30125 | This gene mutation involves AR (androgen receptor) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Androgen resistance syndrome | TGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGAT... | TGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGAT... |
Task1_train_30126 | A variant has been detected on Chromosome X in AR (androgen receptor). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Partial androgen insensitivity syndrome | TATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGATGACAAAATTTCAGATAATTCT... | TATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGATGACAAAATTTCAGATAATTCT... |
Task1_train_30127 | A change on Chromosome X affects gene AR (androgen receptor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Androgen resistance syndrome | CTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGATGACAAAATTTCAGATAATTCTGGATT... | CTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGATGACAAAATTTCAGATAATTCTGGATT... |
Task1_train_30128 | Chromosome X houses a mutation in gene AR (androgen receptor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Kennedy disease | CTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGATGACAAAATTTCAGATAATTCTGGATT... | CTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGATGACAAAATTTCAGATAATTCTGGATT... |
Task1_train_30129 | Given this context: Chromosome X, gene AR (androgen receptor) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | TGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGATGACAAAATTTCAGATAATTCTGGATTT... | TGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGATGACAAAATTTCAGATAATTCTGGATTT... |
Task1_train_30130 | Consider this mutation in AR (androgen receptor) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | ACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGATGACAAAATTTCAGATAATTCTGGATTTGT... | ACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGATGACAAAATTTCAGATAATTCTGGATTTGT... |
Task1_train_30131 | A change on Chromosome X affects gene AR (androgen receptor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | CTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGATGACAAAATTTCAGATAATTCTGGATTTGTTGGTGAGAAGAGAGA... | CTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGATGACAAAATTTCAGATAATTCTGGATTTGTTGGTGAGAAGAGAGA... |
Task1_train_30132 | Given this context: Chromosome X, gene AR (androgen receptor) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Androgen resistance syndrome | CAGTACTCTCCAGTTGAGTGCAACTAATCCCTGCCAGCCTTCCTAAGGTGCTAATGGGGAGCCTCAGACCCAAAGAGAGAGAGAAGAACTTGTCCAATGTAGGTCAACCCATTTGCTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTG... | CAGTACTCTCCAGTTGAGTGCAACTAATCCCTGCCAGCCTTCCTAAGGTGCTAATGGGGAGCCTCAGACCCAAAGAGAGAGAGAAGAACTTGTCCAATGTAGGTCAACCCATTTGCTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTG... |
Task1_train_30133 | The gene AR (androgen receptor), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Kennedy disease | CAGTACTCTCCAGTTGAGTGCAACTAATCCCTGCCAGCCTTCCTAAGGTGCTAATGGGGAGCCTCAGACCCAAAGAGAGAGAGAAGAACTTGTCCAATGTAGGTCAACCCATTTGCTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTG... | CAGTACTCTCCAGTTGAGTGCAACTAATCCCTGCCAGCCTTCCTAAGGTGCTAATGGGGAGCCTCAGACCCAAAGAGAGAGAGAAGAACTTGTCCAATGTAGGTCAACCCATTTGCTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTG... |
Task1_train_30134 | Here is a mutation in AR (androgen receptor) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Androgen resistance syndrome | CAGTACTCTCCAGTTGAGTGCAACTAATCCCTGCCAGCCTTCCTAAGGTGCTAATGGGGAGCCTCAGACCCAAAGAGAGAGAGAAGAACTTGTCCAATGTAGGTCAACCCATTTGCTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTG... | CAGTACTCTCCAGTTGAGTGCAACTAATCCCTGCCAGCCTTCCTAAGGTGCTAATGGGGAGCCTCAGACCCAAAGAGAGAGAGAAGAACTTGTCCAATGTAGGTCAACCCATTTGCTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTG... |
Task1_train_30135 | This genomic variant is located on Chromosome X, within the AR (androgen receptor) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Kennedy disease | AGTACTCTCCAGTTGAGTGCAACTAATCCCTGCCAGCCTTCCTAAGGTGCTAATGGGGAGCCTCAGACCCAAAGAGAGAGAGAAGAACTTGTCCAATGTAGGTCAACCCATTTGCTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTGA... | AGTACTCTCCAGTTGAGTGCAACTAATCCCTGCCAGCCTTCCTAAGGTGCTAATGGGGAGCCTCAGACCCAAAGAGAGAGAGAAGAACTTGTCCAATGTAGGTCAACCCATTTGCTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTGA... |
Task1_train_30136 | The variant affects gene AR (androgen receptor), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Androgen resistance syndrome | AGTACTCTCCAGTTGAGTGCAACTAATCCCTGCCAGCCTTCCTAAGGTGCTAATGGGGAGCCTCAGACCCAAAGAGAGAGAGAAGAACTTGTCCAATGTAGGTCAACCCATTTGCTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTGA... | AGTACTCTCCAGTTGAGTGCAACTAATCCCTGCCAGCCTTCCTAAGGTGCTAATGGGGAGCCTCAGACCCAAAGAGAGAGAGAAGAACTTGTCCAATGTAGGTCAACCCATTTGCTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTGA... |
Task1_train_30137 | Given this variant in gene AR (androgen receptor) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Androgen resistance syndrome | GAGTGCAACTAATCCCTGCCAGCCTTCCTAAGGTGCTAATGGGGAGCCTCAGACCCAAAGAGAGAGAGAAGAACTTGTCCAATGTAGGTCAACCCATTTGCTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTGAACACCTGCTATGTG... | GAGTGCAACTAATCCCTGCCAGCCTTCCTAAGGTGCTAATGGGGAGCCTCAGACCCAAAGAGAGAGAGAAGAACTTGTCCAATGTAGGTCAACCCATTTGCTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTGAACACCTGCTATGTG... |
Task1_train_30138 | This sequence variant lies in AR (androgen receptor) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Kennedy disease | GAGTGCAACTAATCCCTGCCAGCCTTCCTAAGGTGCTAATGGGGAGCCTCAGACCCAAAGAGAGAGAGAAGAACTTGTCCAATGTAGGTCAACCCATTTGCTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTGAACACCTGCTATGTG... | GAGTGCAACTAATCCCTGCCAGCCTTCCTAAGGTGCTAATGGGGAGCCTCAGACCCAAAGAGAGAGAGAAGAACTTGTCCAATGTAGGTCAACCCATTTGCTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTGAACACCTGCTATGTG... |
Task1_train_30139 | A change on Chromosome X affects gene AR (androgen receptor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Androgen resistance syndrome | GAGTGCAACTAATCCCTGCCAGCCTTCCTAAGGTGCTAATGGGGAGCCTCAGACCCAAAGAGAGAGAGAAGAACTTGTCCAATGTAGGTCAACCCATTTGCTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTGAACACCTGCTATGTG... | GAGTGCAACTAATCCCTGCCAGCCTTCCTAAGGTGCTAATGGGGAGCCTCAGACCCAAAGAGAGAGAGAAGAACTTGTCCAATGTAGGTCAACCCATTTGCTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTGAACACCTGCTATGTG... |
Task1_train_30140 | Assess the clinical impact of this variant on gene AR (androgen receptor), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | CAACTAATCCCTGCCAGCCTTCCTAAGGTGCTAATGGGGAGCCTCAGACCCAAAGAGAGAGAGAAGAACTTGTCCAATGTAGGTCAACCCATTTGCTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTGAACACCTGCTATGTGTCAGG... | CAACTAATCCCTGCCAGCCTTCCTAAGGTGCTAATGGGGAGCCTCAGACCCAAAGAGAGAGAGAAGAACTTGTCCAATGTAGGTCAACCCATTTGCTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTGAACACCTGCTATGTGTCAGG... |
Task1_train_30141 | This is a variant in AR (androgen receptor), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Androgen resistance syndrome | CAACTAATCCCTGCCAGCCTTCCTAAGGTGCTAATGGGGAGCCTCAGACCCAAAGAGAGAGAGAAGAACTTGTCCAATGTAGGTCAACCCATTTGCTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTGAACACCTGCTATGTGTCAGG... | CAACTAATCCCTGCCAGCCTTCCTAAGGTGCTAATGGGGAGCCTCAGACCCAAAGAGAGAGAGAAGAACTTGTCCAATGTAGGTCAACCCATTTGCTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTGAACACCTGCTATGTGTCAGG... |
Task1_train_30142 | Given this context: Chromosome X, gene AR (androgen receptor) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Androgen resistance syndrome | TTCCTAAGGTGCTAATGGGGAGCCTCAGACCCAAAGAGAGAGAGAAGAACTTGTCCAATGTAGGTCAACCCATTTGCTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTGAACACCTGCTATGTGTCAGGCACTGTGCTCAGTGTTTTC... | TTCCTAAGGTGCTAATGGGGAGCCTCAGACCCAAAGAGAGAGAGAAGAACTTGTCCAATGTAGGTCAACCCATTTGCTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTGAACACCTGCTATGTGTCAGGCACTGTGCTCAGTGTTTTC... |
Task1_train_30143 | This alteration occurs within gene AR (androgen receptor) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | CTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTGAACACCTGCTATGTGTCAGGCACTGTGCTCAGTGTTTTCCAATCTTCATTTCTCCTCTTATTTTCTCTCTTGCACTCCCACCAACCTTGTTCTCTTCCTAAATTCCATTCCTGCC... | CTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTGAACACCTGCTATGTGTCAGGCACTGTGCTCAGTGTTTTCCAATCTTCATTTCTCCTCTTATTTTCTCTCTTGCACTCCCACCAACCTTGTTCTCTTCCTAAATTCCATTCCTGCC... |
Task1_train_30144 | Given a variant located on Chromosome X and affecting AR (androgen receptor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Androgen resistance syndrome | TCACCACTTAAGTGGGTGTCAAATTTCCTTCCCTTTCTGCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACT... | TCACCACTTAAGTGGGTGTCAAATTTCCTTCCCTTTCTGCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACT... |
Task1_train_30145 | This sequence variant lies in AR (androgen receptor) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Non-obstructive azoospermia | ACCACTTAAGTGGGTGTCAAATTTCCTTCCCTTTCTGCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGT... | ACCACTTAAGTGGGTGTCAAATTTCCTTCCCTTTCTGCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGT... |
Task1_train_30146 | Here is a genetic alteration in AR (androgen receptor) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Male infertility | ACCACTTAAGTGGGTGTCAAATTTCCTTCCCTTTCTGCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGT... | ACCACTTAAGTGGGTGTCAAATTTCCTTCCCTTTCTGCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGT... |
Task1_train_30147 | This sequence change occurs on Chromosome X, altering AR (androgen receptor). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Androgen resistance syndrome | AGTGGGTGTCAAATTTCCTTCCCTTTCTGCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGA... | AGTGGGTGTCAAATTTCCTTCCCTTTCTGCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGA... |
Task1_train_30148 | Gene AR (androgen receptor), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Androgen resistance syndrome | GTGGGTGTCAAATTTCCTTCCCTTTCTGCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAG... | GTGGGTGTCAAATTTCCTTCCCTTTCTGCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAG... |
Task1_train_30149 | A mutation found in AR (androgen receptor) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Androgen resistance syndrome | GTGGGTGTCAAATTTCCTTCCCTTTCTGCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAG... | GTGGGTGTCAAATTTCCTTCCCTTTCTGCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAG... |
Task1_train_30150 | Chromosome X houses a mutation in gene AR (androgen receptor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Kennedy disease | GTGGGTGTCAAATTTCCTTCCCTTTCTGCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAG... | GTGGGTGTCAAATTTCCTTCCCTTTCTGCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAG... |
Task1_train_30151 | This variant affects the gene AR (androgen receptor) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Androgen resistance syndrome | CCTTTCTGCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAAT... | CCTTTCTGCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAAT... |
Task1_train_30152 | Given this context: Chromosome X, gene AR (androgen receptor) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Kennedy disease | CCTTTCTGCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAAT... | CCTTTCTGCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAAT... |
Task1_train_30153 | A variant was discovered in gene AR (androgen receptor), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Kennedy disease | TGCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTC... | TGCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTC... |
Task1_train_30154 | Consider this mutation in AR (androgen receptor) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Androgen resistance syndrome | TGCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTC... | TGCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTC... |
Task1_train_30155 | Gene AR (androgen receptor) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Androgen resistance syndrome | GCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCC... | GCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCC... |
Task1_train_30156 | A variant was discovered in gene AR (androgen receptor), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Kennedy disease | GCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCC... | GCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCC... |
Task1_train_30157 | Here is a genetic alteration in AR (androgen receptor) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Androgen resistance syndrome | GCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCC... | GCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCC... |
Task1_train_30158 | Mutation context: Chromosome X, Gene AR (androgen receptor). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Partial androgen insensitivity syndrome | GCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCA... | GCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCA... |
Task1_train_30159 | A sequence alteration has been identified in AR (androgen receptor) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Kennedy disease | GCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCA... | GCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCA... |
Task1_train_30160 | A mutation found in AR (androgen receptor) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Androgen resistance syndrome | GCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCA... | GCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCA... |
Task1_train_30161 | Located on Chromosome X, this mutation impacts AR (androgen receptor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Androgen resistance syndrome | CACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCC... | CACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCC... |
Task1_train_30162 | Assess the clinical impact of this variant on gene AR (androgen receptor), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Kennedy disease | CACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCC... | CACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCC... |
Task1_train_30163 | Here is a variant affecting AR (androgen receptor) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Androgen resistance syndrome | CACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCC... | CACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCC... |
Task1_train_30164 | This alteration in AR (androgen receptor) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Kennedy disease | ACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCT... | ACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCT... |
Task1_train_30165 | Consider a variant on Chromosome X in gene AR (androgen receptor). Determine its clinical classification and disease relevance. | Pathogenic; Androgen resistance syndrome | ACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCT... | ACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCT... |
Task1_train_30166 | Chromosome X houses a mutation in gene AR (androgen receptor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Androgen resistance syndrome | ACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCT... | ACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCT... |
Task1_train_30167 | Given this context: Chromosome X, gene AR (androgen receptor) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Male infertility | ACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCT... | ACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCT... |
Task1_train_30168 | This mutation is located in gene AR (androgen receptor) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | ACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCT... | ACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCT... |
Task1_train_30169 | This variant impacts the gene AR (androgen receptor) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Androgen resistance syndrome | ACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCA... | ACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCA... |
Task1_train_30170 | A variant on Chromosome X in gene AR (androgen receptor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Androgen resistance syndrome | GCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCAGATTTAACATTGGAACTCGTTT... | GCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCAGATTTAACATTGGAACTCGTTT... |
Task1_train_30171 | This variant affects gene AR (androgen receptor) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Androgen resistance syndrome | GAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCAGATTTAACATTGGAACTCGTTTTGA... | GAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCAGATTTAACATTGGAACTCGTTTTGA... |
Task1_train_30172 | This is a variant in AR (androgen receptor), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Androgen resistance syndrome | AACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCAGATTTAACATTGGAACTCGTTTTGAAAG... | AACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCAGATTTAACATTGGAACTCGTTTTGAAAG... |
Task1_train_30173 | A variant affecting Chromosome X, within the gene AR (androgen receptor), has been observed. Determine if it's benign or associated with disease. | Pathogenic; AR-related disorder | AACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCAGATTTAACATTGGAACTCGTTTTGAAAG... | AACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCAGATTTAACATTGGAACTCGTTTTGAAAG... |
Task1_train_30174 | A change on Chromosome X affects gene AR (androgen receptor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Kennedy disease | AACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCAGATTTAACATTGGAACTCGTTTTGAAAG... | AACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCAGATTTAACATTGGAACTCGTTTTGAAAG... |
Task1_train_30175 | This variant lies on Chromosome X and affects the gene AR (androgen receptor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Androgen resistance syndrome | AACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCAGATTTAACATTGGAACTCGTTTTGAAAG... | AACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCAGATTTAACATTGGAACTCGTTTTGAAAG... |
Task1_train_30176 | This alteration in AR (androgen receptor) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Kennedy disease | AACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCAGATTTAACATTGGAACTCGTTTTGAAAG... | AACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCAGATTTAACATTGGAACTCGTTTTGAAAG... |
Task1_train_30177 | This alteration occurs within gene AR (androgen receptor) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Hypospadias 1, X-linked | AACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCAGATTTAACATTGGAACTCGTTTTGAAAG... | AACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCAGATTTAACATTGGAACTCGTTTTGAAAG... |
Task1_train_30178 | This gene mutation involves AR (androgen receptor) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Partial androgen insensitivity syndrome | AACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCAGATTTAACATTGGAACTCGTTTTGAAAG... | AACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCAGATTTAACATTGGAACTCGTTTTGAAAG... |
Task1_train_30179 | Consider this mutation in AR (androgen receptor) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Malignant tumor of prostate | AACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCAGATTTAACATTGGAACTCGTTTTGAAAG... | AACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCAGATTTAACATTGGAACTCGTTTTGAAAG... |
Task1_train_30180 | The variant affects gene AR (androgen receptor), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Androgen resistance syndrome | AACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCAGATTTAACATTGGAACTCGTTTTGAAAG... | AACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCAGATTTAACATTGGAACTCGTTTTGAAAG... |
Task1_train_30181 | This sequence change occurs on Chromosome X, altering AR (androgen receptor). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Partial androgen insensitivity syndrome | AACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCAGATTTAACATTGGAACTCGTTTTGAAAG... | AACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCAGATTTAACATTGGAACTCGTTTTGAAAG... |
Task1_train_30182 | Here is a variant affecting AR (androgen receptor) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hypospadias 1, X-linked | AACAGAGAGAGAAAAAAAACAAACAAACAGACAAACAAACAAAAAAACCTTTTCCTGGTCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGC... | AACAGAGAGAGAAAAAAAACAAACAAACAGACAAACAAACAAAAAAACCTTTTCCTGGTCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGC... |
Task1_train_30183 | A variant found in Chromosome X affects AR (androgen receptor). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Androgen resistance syndrome | CAGAGAGAGAAAAAAAACAAACAAACAGACAAACAAACAAAAAAACCTTTTCCTGGTCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCAT... | CAGAGAGAGAAAAAAAACAAACAAACAGACAAACAAACAAAAAAACCTTTTCCTGGTCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCAT... |
Task1_train_30184 | A variant was discovered on Chromosome X, affecting AR (androgen receptor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hypospadias 1, X-linked | CAGAGAGAGAAAAAAAACAAACAAACAGACAAACAAACAAAAAAACCTTTTCCTGGTCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCAT... | CAGAGAGAGAAAAAAAACAAACAAACAGACAAACAAACAAAAAAACCTTTTCCTGGTCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCAT... |
Task1_train_30185 | This genomic variant is located on Chromosome X, within the AR (androgen receptor) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Androgen resistance syndrome | CAGAGAGAGAAAAAAAACAAACAAACAGACAAACAAACAAAAAAACCTTTTCCTGGTCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCAT... | CAGAGAGAGAAAAAAAACAAACAAACAGACAAACAAACAAAAAAACCTTTTCCTGGTCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCAT... |
Task1_train_30186 | The gene AR (androgen receptor) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Kennedy disease | CAGAGAGAGAAAAAAAACAAACAAACAGACAAACAAACAAAAAAACCTTTTCCTGGTCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCAT... | CAGAGAGAGAAAAAAAACAAACAAACAGACAAACAAACAAAAAAACCTTTTCCTGGTCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCAT... |
Task1_train_30187 | A genomic change on Chromosome X affects AR (androgen receptor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Prostate cancer, somatic | AAAAAACAAACAAACAGACAAACAAACAAAAAAACCTTTTCCTGGTCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCATTAGTAAGTGCC... | AAAAAACAAACAAACAGACAAACAAACAAAAAAACCTTTTCCTGGTCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCATTAGTAAGTGCC... |
Task1_train_30188 | The gene AR (androgen receptor), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Prostate cancer, somatic | ACAAACAGACAAACAAACAAAAAAACCTTTTCCTGGTCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCATTAGTAAGTGCCTAGAAGTGC... | ACAAACAGACAAACAAACAAAAAAACCTTTTCCTGGTCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCATTAGTAAGTGCCTAGAAGTGC... |
Task1_train_30189 | A variant was discovered on Chromosome X, affecting AR (androgen receptor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Neoplasm | ACAAACAGACAAACAAACAAAAAAACCTTTTCCTGGTCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCATTAGTAAGTGCCTAGAAGTGC... | ACAAACAGACAAACAAACAAAAAAACCTTTTCCTGGTCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCATTAGTAAGTGCCTAGAAGTGC... |
Task1_train_30190 | This mutation occurs in AR (androgen receptor) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Prostate cancer, somatic | CAAACAGACAAACAAACAAAAAAACCTTTTCCTGGTCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCATTAGTAAGTGCCTAGAAGTGCA... | CAAACAGACAAACAAACAAAAAAACCTTTTCCTGGTCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCATTAGTAAGTGCCTAGAAGTGCA... |
Task1_train_30191 | A mutation on Chromosome X affecting AR (androgen receptor) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Androgen resistance syndrome | CCTTTTCCTGGTCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCATTAGTAAGTGCCTAGAAGTGCAGGGAATGCCCCCTGAGGGCACAGA... | CCTTTTCCTGGTCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCATTAGTAAGTGCCTAGAAGTGCAGGGAATGCCCCCTGAGGGCACAGA... |
Task1_train_30192 | This alteration in AR (androgen receptor) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Kennedy disease | TCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCATTAGTAAGTGCCTAGAAGTGCAGGGAATGCCCCCTGAGGGCACAGAGATTCAGAGAG... | TCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCATTAGTAAGTGCCTAGAAGTGCAGGGAATGCCCCCTGAGGGCACAGAGATTCAGAGAG... |
Task1_train_30193 | This alteration in AR (androgen receptor) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Androgen resistance syndrome | TCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCATTAGTAAGTGCCTAGAAGTGCAGGGAATGCCCCCTGAGGGCACAGAGATTCAGAGAG... | TCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCATTAGTAAGTGCCTAGAAGTGCAGGGAATGCCCCCTGAGGGCACAGAGATTCAGAGAG... |
Task1_train_30194 | Here is a variant affecting AR (androgen receptor) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Androgen resistance syndrome | TCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCATTAGTAAGTGCCTAGAAGTGCAGGGAATGCCCCCTGAGGGCACAGAGATTCAGAGAG... | TCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCATTAGTAAGTGCCTAGAAGTGCAGGGAATGCCCCCTGAGGGCACAGAGATTCAGAGAG... |
Task1_train_30195 | Here’s a variant in AR (androgen receptor) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Prostate cancer, somatic | GAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCATTAGTAAGTGCCTAGAAGTGCAGGGAATGCCCCCTGAGGGCACAGAGATTCAGAGAGGACCACTTTTGCCATTAAAACATTATTAGGGAAAAGCCAG... | GAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCATTAGTAAGTGCCTAGAAGTGCAGGGAATGCCCCCTGAGGGCACAGAGATTCAGAGAGGACCACTTTTGCCATTAAAACATTATTAGGGAAAAGCCAG... |
Task1_train_30196 | Located on Chromosome X, this mutation impacts OPHN1 (oligophrenin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; X-linked intellectual disability-cerebellar hypoplasia syndrome | AAAGTCTCAGATCTGTTGGTGGCTTTGGTATCAATAGGCACCTGTTCAAAATCAGACCCTTATACCAGAAAAAGGAGCCATTTATATAATTTCATGTACCATGTATCTCCCAATCTTCCAACTGATAGGCAAGTAGCAGTTATTTTTAAAAAGAAGTACAAAAATATCTTATATTAATAATAATGTTGAAATACCTAACATTCATTTAGACACTATGCACACTTGGCATTATCTCATCCCCATTTTACAAGATAAGAAAATTTAACACTTAGAGAGGTGAAGTTACTTGCCAAGGTTACAGAGCTATTAAGATGTAGAGG... | AAAGTCTCAGATCTGTTGGTGGCTTTGGTATCAATAGGCACCTGTTCAAAATCAGACCCTTATACCAGAAAAAGGAGCCATTTATATAATTTCATGTACCATGTATCTCCCAATCTTCCAACTGATAGGCAAGTAGCAGTTATTTTTAAAAAGAAGTACAAAAATATCTTATATTAATAATAATGTTGAAATACCTAACATTCATTTAGACACTATGCACACTTGGCATTATCTCATCCCCATTTTACAAGATAAGAAAATTTAACACTTAGAGAGGTGAAGTTACTTGCCAAGGTTACAGAGCTATTAAGATGTAGAGG... |
Task1_train_30197 | A mutation on Chromosome X affecting EFNB1 (ephrin B1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Craniofrontonasal syndrome | CTTCTAGTTCTTTCCCTTCCTCCCCATACAGGGTGACGGTTTTTGCCAAGGCTACGCCTGTCCCAGGTCTTGTGCTATGGCAAGCTCCGGGTTTATCCCAGGCGCCCGCAGTGCTATGGAAGTCCAGCAGGGGGAGACATTAGCACGTGGGTACGTCCTCTGGGGTCCGACCAGCGAGAGTGGGTCGGACCTGGAAGGTCTGAGCTATGGGATCGAGCCAAGTTATAAGCAAAGAGGCAAGGCGGGGCGGGAAGAATGGGCCAGGGCTGGGAGACAAAGACCCAGATGGCGAGGCCGGGACAGGCTGGAGTCCGGCTTCT... | CTTCTAGTTCTTTCCCTTCCTCCCCATACAGGGTGACGGTTTTTGCCAAGGCTACGCCTGTCCCAGGTCTTGTGCTATGGCAAGCTCCGGGTTTATCCCAGGCGCCCGCAGTGCTATGGAAGTCCAGCAGGGGGAGACATTAGCACGTGGGTACGTCCTCTGGGGTCCGACCAGCGAGAGTGGGTCGGACCTGGAAGGTCTGAGCTATGGGATCGAGCCAAGTTATAAGCAAAGAGGCAAGGCGGGGCGGGAAGAATGGGCCAGGGCTGGGAGACAAAGACCCAGATGGCGAGGCCGGGACAGGCTGGAGTCCGGCTTCT... |
Task1_train_30198 | Consider this mutation in EFNB1 (ephrin B1) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | CAAAGGCATTTGCCCAGAGTTCCCAGTAGGCCGGTATTGCTTGTAGTACCTTTGGTGTAATGGGCCCTCAGGAAATGGAACCACTCTTTTCTCAGATGATTGTGGTAGCCTGTGAACTGGTGCATGACACTGTCAGCTTCATTCTCTTTAAGCACTGCCTGAAGCCTTCCATTGTCCTTCCTGCTCTGAGAGCCTGTCTCCAATGGGATGAAACCCACCCTGCTTGCTGTGACCCTTGAAGCCTTTCAGTCTGGCCCCAGGTGAACTTTTCACCTCTTCTTCTGTTTCTCTCTTCTCACTCCCAGCCAAGCTGGACCAAT... | CAAAGGCATTTGCCCAGAGTTCCCAGTAGGCCGGTATTGCTTGTAGTACCTTTGGTGTAATGGGCCCTCAGGAAATGGAACCACTCTTTTCTCAGATGATTGTGGTAGCCTGTGAACTGGTGCATGACACTGTCAGCTTCATTCTCTTTAAGCACTGCCTGAAGCCTTCCATTGTCCTTCCTGCTCTGAGAGCCTGTCTCCAATGGGATGAAACCCACCCTGCTTGCTGTGACCCTTGAAGCCTTTCAGTCTGGCCCCAGGTGAACTTTTCACCTCTTCTTCTGTTTCTCTCTTCTCACTCCCAGCCAAGCTGGACCAAT... |
Task1_train_30199 | This is a variant in EFNB1 (ephrin B1), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | TTGTCCTTCCTGCTCTGAGAGCCTGTCTCCAATGGGATGAAACCCACCCTGCTTGCTGTGACCCTTGAAGCCTTTCAGTCTGGCCCCAGGTGAACTTTTCACCTCTTCTTCTGTTTCTCTCTTCTCACTCCCAGCCAAGCTGGACCAATCACTGGCCTGGGCTTTGTGTTGTAGCCACTGCTGTCTACTGTCTCAGTGTGTTGACTTCTTATTCCTCACCTAAGACCCACTTTCATCCTGCCTTTCCTGTGGATACATCTCTGACCATCCTGGTCAGATGAGCTATCTCTTTCTTCTCCCTGCCTCCAGCCCTTGCTGCT... | TTGTCCTTCCTGCTCTGAGAGCCTGTCTCCAATGGGATGAAACCCACCCTGCTTGCTGTGACCCTTGAAGCCTTTCAGTCTGGCCCCAGGTGAACTTTTCACCTCTTCTTCTGTTTCTCTCTTCTCACTCCCAGCCAAGCTGGACCAATCACTGGCCTGGGCTTTGTGTTGTAGCCACTGCTGTCTACTGTCTCAGTGTGTTGACTTCTTATTCCTCACCTAAGACCCACTTTCATCCTGCCTTTCCTGTGGATACATCTCTGACCATCCTGGTCAGATGAGCTATCTCTTTCTTCTCCCTGCCTCCAGCCCTTGCTGCT... |
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