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 |
|---|---|---|---|---|
Task1_train_31500 | This genomic variant is located on Chromosome X, within the L1CAM (L1 cell adhesion molecule) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; MASA syndrome | CTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTG... | CTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTG... |
Task1_train_31501 | This mutation is located in gene AVPR2 (arginine vasopressin receptor 2) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Diabetes insipidus, nephrogenic, X-linked | GTATGTGGTGTGGTGTGTGCGCTGTCTCTGGAAAATGCCCACCCTGTGTTCCCACCACCCTAACAGGGCCGGGAGGGGCCAGGGTGCTGCCAGGCTCTCTGGGCAGGAAGAGGAGGCCTTGGCCGCGGGCCGGACTTGGGCCTGGTCCGTGAGGCTGTTTTGGTCTCTGGCTTCACAGGCAACAGAGAAGACAGACAAACAGGAAGAAAGCAGCTGCCTTGGGCTGGGCTGGGCTGGGCTGGCCTCGGCTGAGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTG... | GTATGTGGTGTGGTGTGTGCGCTGTCTCTGGAAAATGCCCACCCTGTGTTCCCACCACCCTAACAGGGCCGGGAGGGGCCAGGGTGCTGCCAGGCTCTCTGGGCAGGAAGAGGAGGCCTTGGCCGCGGGCCGGACTTGGGCCTGGTCCGTGAGGCTGTTTTGGTCTCTGGCTTCACAGGCAACAGAGAAGACAGACAAACAGGAAGAAAGCAGCTGCCTTGGGCTGGGCTGGGCTGGGCTGGCCTCGGCTGAGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTG... |
Task1_train_31502 | Given this variant in gene AVPR2 (arginine vasopressin receptor 2) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | GGCAGGAAGAGGAGGCCTTGGCCGCGGGCCGGACTTGGGCCTGGTCCGTGAGGCTGTTTTGGTCTCTGGCTTCACAGGCAACAGAGAAGACAGACAAACAGGAAGAAAGCAGCTGCCTTGGGCTGGGCTGGGCTGGGCTGGCCTCGGCTGAGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGC... | GGCAGGAAGAGGAGGCCTTGGCCGCGGGCCGGACTTGGGCCTGGTCCGTGAGGCTGTTTTGGTCTCTGGCTTCACAGGCAACAGAGAAGACAGACAAACAGGAAGAAAGCAGCTGCCTTGGGCTGGGCTGGGCTGGGCTGGCCTCGGCTGAGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGC... |
Task1_train_31503 | Here is a genetic alteration in AVPR2 (arginine vasopressin receptor 2) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | CCTTGGCCGCGGGCCGGACTTGGGCCTGGTCCGTGAGGCTGTTTTGGTCTCTGGCTTCACAGGCAACAGAGAAGACAGACAAACAGGAAGAAAGCAGCTGCCTTGGGCTGGGCTGGGCTGGGCTGGCCTCGGCTGAGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGT... | CCTTGGCCGCGGGCCGGACTTGGGCCTGGTCCGTGAGGCTGTTTTGGTCTCTGGCTTCACAGGCAACAGAGAAGACAGACAAACAGGAAGAAAGCAGCTGCCTTGGGCTGGGCTGGGCTGGGCTGGCCTCGGCTGAGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGT... |
Task1_train_31504 | The following genetic variant occurs in AVPR2 (arginine vasopressin receptor 2) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Diabetes insipidus, nephrogenic, X-linked | AGGCAACAGAGAAGACAGACAAACAGGAAGAAAGCAGCTGCCTTGGGCTGGGCTGGGCTGGGCTGGCCTCGGCTGAGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGC... | AGGCAACAGAGAAGACAGACAAACAGGAAGAAAGCAGCTGCCTTGGGCTGGGCTGGGCTGGGCTGGCCTCGGCTGAGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGC... |
Task1_train_31505 | Gene AVPR2 (arginine vasopressin receptor 2) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Diabetes insipidus, nephrogenic, X-linked | AGGAAGAAAGCAGCTGCCTTGGGCTGGGCTGGGCTGGGCTGGCCTCGGCTGAGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTT... | AGGAAGAAAGCAGCTGCCTTGGGCTGGGCTGGGCTGGGCTGGCCTCGGCTGAGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTT... |
Task1_train_31506 | The gene AVPR2 (arginine vasopressin receptor 2) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Diabetes insipidus, nephrogenic, X-linked | AGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCC... | AGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCC... |
Task1_train_31507 | Consider a variant on Chromosome X in gene AVPR2 (arginine vasopressin receptor 2). Determine its clinical classification and disease relevance. | Pathogenic; not provided | AAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGG... | AAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGG... |
Task1_train_31508 | Here’s a variant in AVPR2 (arginine vasopressin receptor 2) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Diabetes insipidus, nephrogenic, X-linked | CCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATC... | CCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATC... |
Task1_train_31509 | This sequence change occurs on Chromosome X, altering AVPR2 (arginine vasopressin receptor 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Nephrogenic syndrome of inappropriate antidiuresis | GGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGT... | GGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGT... |
Task1_train_31510 | Gene AVPR2 (arginine vasopressin receptor 2) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Nephrogenic diabetes insipidus | GGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTG... | GGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTG... |
Task1_train_31511 | This genomic variant is located on Chromosome X, within the AVPR2 (arginine vasopressin receptor 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Nephrogenic syndrome of inappropriate antidiuresis | GGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTG... | GGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTG... |
Task1_train_31512 | Located on Chromosome X, this mutation impacts AVPR2 (arginine vasopressin receptor 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | GCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGC... | GCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGC... |
Task1_train_31513 | This variant affects gene AVPR2 (arginine vasopressin receptor 2) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Diabetes insipidus, nephrogenic, X-linked | CAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTT... | CAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTT... |
Task1_train_31514 | Here is a genetic alteration in AVPR2 (arginine vasopressin receptor 2) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Diabetes insipidus, nephrogenic, X-linked | CGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGC... | CGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGC... |
Task1_train_31515 | Mutation context: Chromosome X, Gene AVPR2 (arginine vasopressin receptor 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Diabetes insipidus, nephrogenic, X-linked | GGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCC... | GGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCC... |
Task1_train_31516 | The gene AVPR2 (arginine vasopressin receptor 2) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Diabetes insipidus, nephrogenic, X-linked | TGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGA... | TGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGA... |
Task1_train_31517 | This variant lies on Chromosome X and affects the gene AVPR2 (arginine vasopressin receptor 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Nephrogenic diabetes insipidus | TGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCA... | TGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCA... |
Task1_train_31518 | Gene AVPR2 (arginine vasopressin receptor 2) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | AGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGG... | AGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGG... |
Task1_train_31519 | Given this variant in gene AVPR2 (arginine vasopressin receptor 2) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | CGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGC... | CGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGC... |
Task1_train_31520 | An alteration has been detected in AVPR2 (arginine vasopressin receptor 2) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Nephrogenic diabetes insipidus | GGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGG... | GGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGG... |
Task1_train_31521 | Given a variant located on Chromosome X and affecting NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Ogden syndrome | CATCTGTGCTCTCTGTGGTCTCGCTGACCTCGCTGAGGTCCTTGCTGTCCCCACCACTATCCTCGGCAGCCAGGCCCTTCTCCTCGCGACAGGCCTCTCCTGAGCTCGGAGGTGAATTGCCTTTGCTCTCCACCTTGTTCTCGATGGCACCCAGCACCACGTGCCTGCCCTTCTCTTTCAGCTCCAGGTGCCGCCTCAGCTGCCACCAGGAACCCAGGGAGAAGCGGGGGCAAAGAGACAGGGCCTAAGTTTCCAGACAAAGGGAGCCTGGCCCTGTCGCTGGCTGAGGAGAGGGGCATAGTGAGGCAGCAGGGCTAGGC... | CATCTGTGCTCTCTGTGGTCTCGCTGACCTCGCTGAGGTCCTTGCTGTCCCCACCACTATCCTCGGCAGCCAGGCCCTTCTCCTCGCGACAGGCCTCTCCTGAGCTCGGAGGTGAATTGCCTTTGCTCTCCACCTTGTTCTCGATGGCACCCAGCACCACGTGCCTGCCCTTCTCTTTCAGCTCCAGGTGCCGCCTCAGCTGCCACCAGGAACCCAGGGAGAAGCGGGGGCAAAGAGACAGGGCCTAAGTTTCCAGACAAAGGGAGCCTGGCCCTGTCGCTGGCTGAGGAGAGGGGCATAGTGAGGCAGCAGGGCTAGGC... |
Task1_train_31522 | A sequence alteration has been identified in NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Ogden syndrome | CATCTGTGCTCTCTGTGGTCTCGCTGACCTCGCTGAGGTCCTTGCTGTCCCCACCACTATCCTCGGCAGCCAGGCCCTTCTCCTCGCGACAGGCCTCTCCTGAGCTCGGAGGTGAATTGCCTTTGCTCTCCACCTTGTTCTCGATGGCACCCAGCACCACGTGCCTGCCCTTCTCTTTCAGCTCCAGGTGCCGCCTCAGCTGCCACCAGGAACCCAGGGAGAAGCGGGGGCAAAGAGACAGGGCCTAAGTTTCCAGACAAAGGGAGCCTGGCCCTGTCGCTGGCTGAGGAGAGGGGCATAGTGAGGCAGCAGGGCTAGGC... | CATCTGTGCTCTCTGTGGTCTCGCTGACCTCGCTGAGGTCCTTGCTGTCCCCACCACTATCCTCGGCAGCCAGGCCCTTCTCCTCGCGACAGGCCTCTCCTGAGCTCGGAGGTGAATTGCCTTTGCTCTCCACCTTGTTCTCGATGGCACCCAGCACCACGTGCCTGCCCTTCTCTTTCAGCTCCAGGTGCCGCCTCAGCTGCCACCAGGAACCCAGGGAGAAGCGGGGGCAAAGAGACAGGGCCTAAGTTTCCAGACAAAGGGAGCCTGGCCCTGTCGCTGGCTGAGGAGAGGGGCATAGTGAGGCAGCAGGGCTAGGC... |
Task1_train_31523 | Gene NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Ogden syndrome | CCAGACAAAGGGAGCCTGGCCCTGTCGCTGGCTGAGGAGAGGGGCATAGTGAGGCAGCAGGGCTAGGCAGGACACGCGGGACTGAGTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCT... | CCAGACAAAGGGAGCCTGGCCCTGTCGCTGGCTGAGGAGAGGGGCATAGTGAGGCAGCAGGGCTAGGCAGGACACGCGGGACTGAGTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCT... |
Task1_train_31524 | A sequence alteration has been identified in NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Ogden syndrome | GCCTGGCCCTGTCGCTGGCTGAGGAGAGGGGCATAGTGAGGCAGCAGGGCTAGGCAGGACACGCGGGACTGAGTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCT... | GCCTGGCCCTGTCGCTGGCTGAGGAGAGGGGCATAGTGAGGCAGCAGGGCTAGGCAGGACACGCGGGACTGAGTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCT... |
Task1_train_31525 | Here’s a variant in NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Ogden syndrome | GCGGGACTGAGTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTG... | GCGGGACTGAGTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTG... |
Task1_train_31526 | This mutation is located in gene NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Microphthalmia, syndromic 1 | GCGGGACTGAGTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTG... | GCGGGACTGAGTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTG... |
Task1_train_31527 | The following genetic variant occurs in NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Inborn genetic diseases | GTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAG... | GTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAG... |
Task1_train_31528 | This mutation is located in gene NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; See cases | GTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAG... | GTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAG... |
Task1_train_31529 | This variant affects gene NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Intellectual disability | GTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAG... | GTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAG... |
Task1_train_31530 | This mutation occurs in NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Ogden syndrome | GTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAG... | GTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAG... |
Task1_train_31531 | This mutation is located in gene NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; NAA10-related disorder | GTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAG... | GTGGGGACACCTGGCTGGAGCCCCAGTCCACCGCTACCTGGGCTTACCGACTACCATGGAGGCCCCCACGACAGAGCGCTGCCCCTTGACCAGCCCTGCCACCCGATGAGCCTTGGGCAGAACCCTGACTCAGAACTACCTTTGAGCAGGCAGGCCACCCACTGGTCCCTAGACCTCCCCACTTCCCTTCTAAAAGCCTCCTCCCTCTGCCTCTCCCATCACCCTCCAGGCTGCTAGGCAGATGGCCTCCTCTAAAGCCCAGCCTAGGAAACTGAGGTCGTGACTCCTGGCAACGTAGCCACAAGAGCTGGCATCCAAAG... |
Task1_train_31532 | Here is a mutation in NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Ogden syndrome | CCACAGCCTCTTCCCCACAGCCGGCCCACCCCCGACCTGGAAGGCAACTCAGCCGGTCTCAGGTGCCCTGATGGGCCAGACCTGGGATCAACCCCAGCCCATTAGAAAAATCGAGATCTACTTACTGAAAGTTGAGGGTGTTGGAATAGAGGTGCAGGGCGGCCCGGTTACTGCAGGGGAACAAGGCACTGCTGAGCTGCACGGATTTGGCCAGGGAGGGGTAGCACGTCCAGGTCTTGCCCCTCCTCCTGGTCCCTCCTTCCCCCCAATCCCACTTCCTGGATCTTCACCAAAAGCTGAGGTACCCCAGGACCCCCGTC... | CCACAGCCTCTTCCCCACAGCCGGCCCACCCCCGACCTGGAAGGCAACTCAGCCGGTCTCAGGTGCCCTGATGGGCCAGACCTGGGATCAACCCCAGCCCATTAGAAAAATCGAGATCTACTTACTGAAAGTTGAGGGTGTTGGAATAGAGGTGCAGGGCGGCCCGGTTACTGCAGGGGAACAAGGCACTGCTGAGCTGCACGGATTTGGCCAGGGAGGGGTAGCACGTCCAGGTCTTGCCCCTCCTCCTGGTCCCTCCTTCCCCCCAATCCCACTTCCTGGATCTTCACCAAAAGCTGAGGTACCCCAGGACCCCCGTC... |
Task1_train_31533 | Here is a mutation in NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Microphthalmia, syndromic 1 | TATTTGGCATTGAAGTTCTCTATCATGGCTCGAGAGGCCTGGTCCATCAGTTTCTGAGCCAGACCGAGGCGCCGGTGGGAACGCTTCACAGCCTGGTGGGAGAAGAGCAGAGATGGGGTGAGGGACTGGGACCTTGAGGGCTGCCCCAACTAACCCCCACTTCCACCCCCACCAGAGAGCCTGGGTGGACCTTACATACCAATGAGGTGATATGTCCATGGGGCACATCATCTGGGTCCTCTTCCCTGGAGAGGGAGAAAGGAGAGGCTGCAAAGGAGCTCAGTGTAGGCACAGCCACCTCCAGCCCCCCTGCCATTTGT... | TATTTGGCATTGAAGTTCTCTATCATGGCTCGAGAGGCCTGGTCCATCAGTTTCTGAGCCAGACCGAGGCGCCGGTGGGAACGCTTCACAGCCTGGTGGGAGAAGAGCAGAGATGGGGTGAGGGACTGGGACCTTGAGGGCTGCCCCAACTAACCCCCACTTCCACCCCCACCAGAGAGCCTGGGTGGACCTTACATACCAATGAGGTGATATGTCCATGGGGCACATCATCTGGGTCCTCTTCCCTGGAGAGGGAGAAAGGAGAGGCTGCAAAGGAGCTCAGTGTAGGCACAGCCACCTCCAGCCCCCCTGCCATTTGT... |
Task1_train_31534 | This alteration occurs within gene LOC130068840, NAA10 (ATAC-STARR-seq lymphoblastoid silent region 21075| N-alpha-acetyltransferase 10, NatA catalytic subunit) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Microphthalmia, syndromic 1 | CAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTA... | CAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTA... |
Task1_train_31535 | Given this variant in gene LOC130068840, NAA10 (ATAC-STARR-seq lymphoblastoid silent region 21075| N-alpha-acetyltransferase 10, NatA catalytic subunit) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Ogden syndrome | CAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTA... | CAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTA... |
Task1_train_31536 | An alteration has been detected in LOC130068840, NAA10 (ATAC-STARR-seq lymphoblastoid silent region 21075| N-alpha-acetyltransferase 10, NatA catalytic subunit) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Ogden syndrome | CAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTA... | CAGGAGTTCGAGACCAGCCTGGACAACACTTTTTTTTGTCTCTACAAAAAAAAAATCAAAAAATTAGCTGGATGTGGTGGCGCATGCCTGTGGTCCCAGCTACTTGGGAGGCAGACATGAGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAATAAAAAAAGAAATGAGCTGTCAACCCACGCAAAGACAAGGCAGAAGCTTAAATGTGTATTACTAAGTGAAAAAAAGCCAGCCTGAAAAAGCTGTATATAGTA... |
Task1_train_31537 | This mutation is located in gene HCFC1 (host cell factor C1) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | GATGCCGGGACACAGTGAGACACCTAGTGGTTATTTCAAAAAAAGTCTTTTAATTGTTCAAAATAGCACAAAACGACATCGCACTATGGTAATATTGAGTCACAGGGGTTACTCTACAATAGTGAACGGTGTACTCTCCTCAGAAACAAATCAATAGGCGCGCGAGAGAAGGGATGGGGTAAAACAACAGGACCAGGTGAGTGGGCTCCAAGGTGACTAAACGTGACATTTTCCACAGCGAAATATACTATAATACAACAAACCAGAGGCCCTGGAGGACACAGGCTGCTGCGTCTCCAGGCAGAGGTCGGTAGGGGAGG... | GATGCCGGGACACAGTGAGACACCTAGTGGTTATTTCAAAAAAAGTCTTTTAATTGTTCAAAATAGCACAAAACGACATCGCACTATGGTAATATTGAGTCACAGGGGTTACTCTACAATAGTGAACGGTGTACTCTCCTCAGAAACAAATCAATAGGCGCGCGAGAGAAGGGATGGGGTAAAACAACAGGACCAGGTGAGTGGGCTCCAAGGTGACTAAACGTGACATTTTCCACAGCGAAATATACTATAATACAACAAACCAGAGGCCCTGGAGGACACAGGCTGCTGCGTCTCCAGGCAGAGGTCGGTAGGGGAGG... |
Task1_train_31538 | The gene HCFC1 (host cell factor C1) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Inborn genetic diseases | AGGGCAGGGGCCAGCAACAGGAAGTTGGGCTGGGTGGCAAACAGCAGGCCCCTCGTGGCAGATTTCACACCTCTCCTGCCCTGGCTGGCCCCAGCTTTTCCTCCAGAAAGATCCCTGCCAAGAATTAGCCAAGAAGAAAAAAGTAAAAAAACAAAAACAAAACAAAACAAAACAAAAAAAAGAGAAAAGAAAAAAGATTACACATTCTGTACACAGCTAACAACAACAAAAAAGGGACAAAACCCCACACGCTAAAATTACAATGAAAGTGTGAACTTCACCAATTGCAACCTAAAAAACACAACAAATGCAGCAGTTGG... | AGGGCAGGGGCCAGCAACAGGAAGTTGGGCTGGGTGGCAAACAGCAGGCCCCTCGTGGCAGATTTCACACCTCTCCTGCCCTGGCTGGCCCCAGCTTTTCCTCCAGAAAGATCCCTGCCAAGAATTAGCCAAGAAGAAAAAAGTAAAAAAACAAAAACAAAACAAAACAAAACAAAAAAAAGAGAAAAGAAAAAAGATTACACATTCTGTACACAGCTAACAACAACAAAAAAGGGACAAAACCCCACACGCTAAAATTACAATGAAAGTGTGAACTTCACCAATTGCAACCTAAAAAACACAACAAATGCAGCAGTTGG... |
Task1_train_31539 | Given this context: Chromosome X, gene HCFC1 (host cell factor C1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Methylmalonic acidemia with homocystinuria, type cblX | AGCCCTCTCACTGCTTGTCCCCTCAAACATCCTGGGGTGGCGTCCCCTGCACCCCCAGGCCCGGAGCTGGGTCCCCTGCTCTACTTGATGGCCACCCCCGTGGGGGGCTGTGTGCGCGCCAAAGGAAGCAGGGAGACGCCGCACATGGGAAAAAATCTCAGATGGTGACAGTTCCTCCTGCTGCACCCGGCTTCCTGGGCCTTCCCTGTGCCTGAAGAGCTCCACGAAGGACACTCACCCTGCAGCCACCTCACTTGTGTGGCCGGGCCATAGCCCTTCTCATTGCGGGCGGCGATGCGGAAGATGATGGCGGGCTTGGT... | AGCCCTCTCACTGCTTGTCCCCTCAAACATCCTGGGGTGGCGTCCCCTGCACCCCCAGGCCCGGAGCTGGGTCCCCTGCTCTACTTGATGGCCACCCCCGTGGGGGGCTGTGTGCGCGCCAAAGGAAGCAGGGAGACGCCGCACATGGGAAAAAATCTCAGATGGTGACAGTTCCTCCTGCTGCACCCGGCTTCCTGGGCCTTCCCTGTGCCTGAAGAGCTCCACGAAGGACACTCACCCTGCAGCCACCTCACTTGTGTGGCCGGGCCATAGCCCTTCTCATTGCGGGCGGCGATGCGGAAGATGATGGCGGGCTTGGT... |
Task1_train_31540 | This variant impacts the gene HCFC1 (host cell factor C1) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Methylmalonic acidemia with homocystinuria, type cblX | GAAGAGCCCCTGCAGGGTGGACAGGAAACCACCCACATGGCTGCCTCTGAGAAGCAGAACCGGAGAACCGGGAGGAGGGAAGGAGGCCCTGCACCGTAGAGGCTTTTGCACTTTTGGATGTTGGGCCATTTGGATGGAGAGCTCATTCAAAAAACTCAGAGGCGGAACATTGCTTCAGAGAGCTCTGCCCACTGGATCCTTCCAGTGGATTCCAAAGGGAGCCGGGGGCCCAGCTTGCTCCCCGCACACCCCACACAGCTCTTAGGCTGAGAAGGGCCAGCCTCCTGCAGCCTCCCACAGGCCACTCGGAGCCCGAGGAG... | GAAGAGCCCCTGCAGGGTGGACAGGAAACCACCCACATGGCTGCCTCTGAGAAGCAGAACCGGAGAACCGGGAGGAGGGAAGGAGGCCCTGCACCGTAGAGGCTTTTGCACTTTTGGATGTTGGGCCATTTGGATGGAGAGCTCATTCAAAAAACTCAGAGGCGGAACATTGCTTCAGAGAGCTCTGCCCACTGGATCCTTCCAGTGGATTCCAAAGGGAGCCGGGGGCCCAGCTTGCTCCCCGCACACCCCACACAGCTCTTAGGCTGAGAAGGGCCAGCCTCCTGCAGCCTCCCACAGGCCACTCGGAGCCCGAGGAG... |
Task1_train_31541 | A variant found in Chromosome X affects HCFC1 (host cell factor C1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Methylmalonic acidemia with homocystinuria, type cblX | TGGTTGCCGAGTGGAGACTGCGAGGAAGAGGCGCCACCCCGCTGAGACTGGGCTTATTCCACGTCAGGGTGTCTGCAGAGAGACGGAGGGGAAAGGGTTACACAAGGTAGACTGCACACAGGTCGTTCCCTGGATTCAAGCTAGCTCAGGAAGGTAGGATCTGTCTCAGTGAGAGAATTCCATCCCTGGCTTCCCTATAGCCTACGGCAGGCCCTCTGACTGTTGTCATGGTAGCTAGATTCCTGTGTTACCCAGGCGGTTTCGACCAGGCTAGCAATAGCGCTCCTTCAGGTACATCCTGAGCACCTGCCCTGAGCCAG... | TGGTTGCCGAGTGGAGACTGCGAGGAAGAGGCGCCACCCCGCTGAGACTGGGCTTATTCCACGTCAGGGTGTCTGCAGAGAGACGGAGGGGAAAGGGTTACACAAGGTAGACTGCACACAGGTCGTTCCCTGGATTCAAGCTAGCTCAGGAAGGTAGGATCTGTCTCAGTGAGAGAATTCCATCCCTGGCTTCCCTATAGCCTACGGCAGGCCCTCTGACTGTTGTCATGGTAGCTAGATTCCTGTGTTACCCAGGCGGTTTCGACCAGGCTAGCAATAGCGCTCCTTCAGGTACATCCTGAGCACCTGCCCTGAGCCAG... |
Task1_train_31542 | The gene HCFC1 (host cell factor C1) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Methylmalonic acidemia with homocystinuria, type cblX | AACTGTTGGAAAATTCTCTCACGGGAAACTGCTTCTTTGGAGTGCCGACTCTGATCTATAGGACAACATCGCCATCTCCTCTCTCCCAGCTGAAGAGGCCTCCGGAGATCCACAGTTAGTAATCTTTCCCAGCCACTCCTGATACCACCACCTGGTGACCGGCCCAAGCAGTCCCCGAAGGCCTCACGGTTTACCGGCATCCAATGGTACCACAGCAGTCAGACCAGGATGCAGCACTCCACACAGTCTGACCACTGACGAGTCAAGAGGGACTAATGCTACCCGGATCCAGAGAATTCCATTCTAGAAAGCCTTAATGA... | AACTGTTGGAAAATTCTCTCACGGGAAACTGCTTCTTTGGAGTGCCGACTCTGATCTATAGGACAACATCGCCATCTCCTCTCTCCCAGCTGAAGAGGCCTCCGGAGATCCACAGTTAGTAATCTTTCCCAGCCACTCCTGATACCACCACCTGGTGACCGGCCCAAGCAGTCCCCGAAGGCCTCACGGTTTACCGGCATCCAATGGTACCACAGCAGTCAGACCAGGATGCAGCACTCCACACAGTCTGACCACTGACGAGTCAAGAGGGACTAATGCTACCCGGATCCAGAGAATTCCATTCTAGAAAGCCTTAATGA... |
Task1_train_31543 | This mutation is located in gene MECP2 (methyl-CpG binding protein 2) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Severe neonatal-onset encephalopathy with microcephaly | CTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAA... | CTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAA... |
Task1_train_31544 | A variant was discovered on Chromosome X, affecting MECP2 (methyl-CpG binding protein 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Rett syndrome | CTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAA... | CTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAA... |
Task1_train_31545 | The variant affects gene MECP2 (methyl-CpG binding protein 2), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Rett syndrome | CTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCA... | CTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCA... |
Task1_train_31546 | This variant affects the gene MECP2 (methyl-CpG binding protein 2) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Rett syndrome | TCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAG... | TCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAG... |
Task1_train_31547 | Located on Chromosome X, this mutation impacts MECP2 (methyl-CpG binding protein 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Severe neonatal-onset encephalopathy with microcephaly | TCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAG... | TCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAG... |
Task1_train_31548 | A variant was discovered on Chromosome X, affecting MECP2 (methyl-CpG binding protein 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Severe neonatal-onset encephalopathy with microcephaly | TCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAG... | TCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAG... |
Task1_train_31549 | Mutation context: Chromosome X, Gene MECP2 (methyl-CpG binding protein 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Rett syndrome | TCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAG... | TCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAG... |
Task1_train_31550 | An alteration has been detected in MECP2 (methyl-CpG binding protein 2) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Rett syndrome | CCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTT... | CCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTT... |
Task1_train_31551 | Chromosome X houses a mutation in gene MECP2 (methyl-CpG binding protein 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Rett syndrome | GAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATT... | GAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATT... |
Task1_train_31552 | A change on Chromosome X affects gene MECP2 (methyl-CpG binding protein 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Rett syndrome | AGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTG... | AGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTG... |
Task1_train_31553 | This genomic variant is located on Chromosome X, within the MECP2 (methyl-CpG binding protein 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Severe neonatal-onset encephalopathy with microcephaly | GGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCA... | GGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCA... |
Task1_train_31554 | Given this context: Chromosome X, gene MECP2 (methyl-CpG binding protein 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Rett syndrome | GGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCA... | GGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCA... |
Task1_train_31555 | Given this variant in gene MECP2 (methyl-CpG binding protein 2) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | CTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAA... | CTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAA... |
Task1_train_31556 | Given this context: Chromosome X, gene MECP2 (methyl-CpG binding protein 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Rett syndrome | TAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACT... | TAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACT... |
Task1_train_31557 | Here is a genetic alteration in MECP2 (methyl-CpG binding protein 2) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Rett syndrome | TAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACT... | TAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACT... |
Task1_train_31558 | This variant impacts the gene MECP2 (methyl-CpG binding protein 2) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Severe neonatal-onset encephalopathy with microcephaly | TAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACT... | TAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACT... |
Task1_train_31559 | Here is a variant affecting MECP2 (methyl-CpG binding protein 2) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Rett syndrome | AGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTT... | AGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTT... |
Task1_train_31560 | This mutation is located in gene MECP2 (methyl-CpG binding protein 2) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; X-linked intellectual disability-psychosis-macroorchidism syndrome | AGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTT... | AGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTT... |
Task1_train_31561 | The gene MECP2 (methyl-CpG binding protein 2), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Rett syndrome | AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAA... | AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAA... |
Task1_train_31562 | A mutation found in MECP2 (methyl-CpG binding protein 2) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Severe neonatal-onset encephalopathy with microcephaly | AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAA... | AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAA... |
Task1_train_31563 | The gene MECP2 (methyl-CpG binding protein 2), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Severe neonatal-onset encephalopathy with microcephaly | AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAA... | AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAA... |
Task1_train_31564 | This sequence change occurs on Chromosome X, altering MECP2 (methyl-CpG binding protein 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Rett syndrome | AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAA... | AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAA... |
Task1_train_31565 | This gene mutation involves MECP2 (methyl-CpG binding protein 2) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Severe global developmental delay | AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAA... | AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAA... |
Task1_train_31566 | Consider a variant on Chromosome X in gene MECP2 (methyl-CpG binding protein 2). Determine its clinical classification and disease relevance. | Pathogenic; Irregular respiration | AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAA... | AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAA... |
Task1_train_31567 | A sequence alteration has been identified in MECP2 (methyl-CpG binding protein 2) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Developmental regression | AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAA... | AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAA... |
Task1_train_31568 | A mutation found in MECP2 (methyl-CpG binding protein 2) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Absent speech | AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAA... | AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAA... |
Task1_train_31569 | This alteration in MECP2 (methyl-CpG binding protein 2) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Seizure | AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAA... | AAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAA... |
Task1_train_31570 | This gene mutation involves MECP2 (methyl-CpG binding protein 2) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Rett syndrome | AGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAA... | AGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAA... |
Task1_train_31571 | Gene MECP2 (methyl-CpG binding protein 2) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Rett syndrome | AACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCAC... | AACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCAC... |
Task1_train_31572 | A mutation on Chromosome X affecting MECP2 (methyl-CpG binding protein 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Rett syndrome | GGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTC... | GGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTC... |
Task1_train_31573 | Here is a genetic alteration in MECP2 (methyl-CpG binding protein 2) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Rett syndrome | GACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGG... | GACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGG... |
Task1_train_31574 | With a mutation on Chromosome X in gene MECP2 (methyl-CpG binding protein 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Rett syndrome | ACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGA... | ACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGA... |
Task1_train_31575 | This alteration in MECP2 (methyl-CpG binding protein 2) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Severe neonatal-onset encephalopathy with microcephaly | AAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCA... | AAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCA... |
Task1_train_31576 | The gene MECP2 (methyl-CpG binding protein 2), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Rett syndrome | AAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCA... | AAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCA... |
Task1_train_31577 | The gene MECP2 (methyl-CpG binding protein 2) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Rett syndrome | AATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCAT... | AATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCAT... |
Task1_train_31578 | This sequence variant lies in MECP2 (methyl-CpG binding protein 2) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Rett syndrome | GTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCC... | GTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCC... |
Task1_train_31579 | A variant was discovered in gene MECP2 (methyl-CpG binding protein 2), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Rett syndrome | TCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCC... | TCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCC... |
Task1_train_31580 | This genomic variant is located on Chromosome X, within the MECP2 (methyl-CpG binding protein 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Rett syndrome | TTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCT... | TTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCT... |
Task1_train_31581 | A genomic change on Chromosome X affects MECP2 (methyl-CpG binding protein 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Severe neonatal-onset encephalopathy with microcephaly | TTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCT... | TTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCT... |
Task1_train_31582 | This sequence change occurs on Chromosome X, altering MECP2 (methyl-CpG binding protein 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Severe neonatal-onset encephalopathy with microcephaly | ACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGT... | ACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGT... |
Task1_train_31583 | With a mutation on Chromosome X in gene MECP2 (methyl-CpG binding protein 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Rett syndrome | GACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGG... | GACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGG... |
Task1_train_31584 | This genomic variant is located on Chromosome X, within the MECP2 (methyl-CpG binding protein 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Rett syndrome | CTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGAC... | CTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGAC... |
Task1_train_31585 | Chromosome X houses a mutation in gene MECP2 (methyl-CpG binding protein 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Rett syndrome | AATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCC... | AATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCC... |
Task1_train_31586 | A variant has been detected on Chromosome X in MECP2 (methyl-CpG binding protein 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Rett syndrome | AATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCC... | AATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCC... |
Task1_train_31587 | A mutation found in MECP2 (methyl-CpG binding protein 2) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Rett syndrome | AATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCC... | AATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCC... |
Task1_train_31588 | A mutation on Chromosome X affecting MECP2 (methyl-CpG binding protein 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Rett syndrome | ATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCC... | ATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCC... |
Task1_train_31589 | Given this variant in gene MECP2 (methyl-CpG binding protein 2) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Rett syndrome | GCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTC... | GCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTC... |
Task1_train_31590 | This sequence variant lies in MECP2 (methyl-CpG binding protein 2) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Rett syndrome | AAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCA... | AAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCA... |
Task1_train_31591 | A mutation in MECP2 (methyl-CpG binding protein 2), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Rett syndrome | TGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTT... | TGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTT... |
Task1_train_31592 | This mutation occurs in MECP2 (methyl-CpG binding protein 2) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Rett syndrome | TGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTT... | TGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTT... |
Task1_train_31593 | A mutation in MECP2 (methyl-CpG binding protein 2), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Rett syndrome | TCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGG... | TCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGG... |
Task1_train_31594 | Chromosome X houses a mutation in gene MECP2 (methyl-CpG binding protein 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Rett syndrome | AATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACC... | AATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACC... |
Task1_train_31595 | A variant on Chromosome X in gene MECP2 (methyl-CpG binding protein 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | CCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTG... | CCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTG... |
Task1_train_31596 | A mutation on Chromosome X affecting MECP2 (methyl-CpG binding protein 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Rett syndrome | TTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTC... | TTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTC... |
Task1_train_31597 | This gene mutation involves MECP2 (methyl-CpG binding protein 2) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Rett syndrome | TTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTC... | TTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTC... |
Task1_train_31598 | The gene MECP2 (methyl-CpG binding protein 2) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Rett syndrome | TTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTC... | TTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTC... |
Task1_train_31599 | With a mutation on Chromosome X in gene MECP2 (methyl-CpG binding protein 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Rett syndrome | TTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCT... | TTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCT... |
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