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_29200 | With a mutation on Chromosome X in gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Juvenile retinoschisis | CTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTTAATTCACCTTTCCAAATA... | CTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTTAATTCACCTTTCCAAATA... |
Task1_train_29201 | Mutation context: Chromosome X, Gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Retinal dystrophy | GATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTTAATTCACCTTTCCAAATAAGGGTCTCTGT... | GATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTTAATTCACCTTTCCAAATAAGGGTCTCTGT... |
Task1_train_29202 | A variant on Chromosome X in gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | AAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTTAATTCACCTTTCCAAATAAGGGTCTCTGTTCA... | AAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTTAATTCACCTTTCCAAATAAGGGTCTCTGTTCA... |
Task1_train_29203 | Here’s a variant in CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | AAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTTAATTCACCTTTCCAAATAAGGGTCTCTGTTCA... | AAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTTAATTCACCTTTCCAAATAAGGGTCTCTGTTCA... |
Task1_train_29204 | A mutation found in CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Juvenile retinoschisis | AACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTTAATTCACCTTTCCAAATAAGGGTCTCTGTTCAG... | AACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTTAATTCACCTTTCCAAATAAGGGTCTCTGTTCAG... |
Task1_train_29205 | This is a variant in CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Retinal dystrophy | AACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTTAATTCACCTTTCCAAATAAGGGTCTCTGTTCAG... | AACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTTAATTCACCTTTCCAAATAAGGGTCTCTGTTCAG... |
Task1_train_29206 | The gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Retinal dystrophy | AACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTTAATTCACCTTTCCAAATAAGGGTCTCTGTTCAG... | AACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTTAATTCACCTTTCCAAATAAGGGTCTCTGTTCAG... |
Task1_train_29207 | Given this context: Chromosome X, gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | TCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTTAATTCACCTTTCCAAATAAGGGTCTCTGTTCAGGCATTTCTATCCAAAATAGATTTGTCCTGTGTCCTAAGG... | TCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTTAATTCACCTTTCCAAATAAGGGTCTCTGTTCAGGCATTTCTATCCAAAATAGATTTGTCCTGTGTCCTAAGG... |
Task1_train_29208 | This mutation occurs in CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not specified | TACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTTAATTCACCTTTCCAAATAAGGGTCTCTGTTCAGGCATTTCTATCCAAAATAGATTTGTCCTGTGTCCTAAGGCCAGGGAT... | TACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTTAATTCACCTTTCCAAATAAGGGTCTCTGTTCAGGCATTTCTATCCAAAATAGATTTGTCCTGTGTCCTAAGGCCAGGGAT... |
Task1_train_29209 | Here is a variant affecting CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Retinal dystrophy | TGAGCCACATTTCAAGTGGCCGCCATATTGGACAGTGCAGATGTGAACATTTCCATCACAGAAAGTTCTATTGGAGGGTGCTGCTAGAAAATGCCACTTGACTCATCGCTTTTGAGTTTTTATCCTTTGCATTTTGACATTTTGAAAAGGCCCACATCACACTTACATGTTCCAAAGGTATCCAAAGTAGGGCTCAAGTGAAAACCCGTGCTTGGCTCAGGAGTTGTAAGCCAAAACTTAAATGTGTATTCCTACTTTGATACAAGTGATGAGTACCTTTCCAACTTGGAAAATGTTTTTTTAAAAAGACATAAAAACTT... | TGAGCCACATTTCAAGTGGCCGCCATATTGGACAGTGCAGATGTGAACATTTCCATCACAGAAAGTTCTATTGGAGGGTGCTGCTAGAAAATGCCACTTGACTCATCGCTTTTGAGTTTTTATCCTTTGCATTTTGACATTTTGAAAAGGCCCACATCACACTTACATGTTCCAAAGGTATCCAAAGTAGGGCTCAAGTGAAAACCCGTGCTTGGCTCAGGAGTTGTAAGCCAAAACTTAAATGTGTATTCCTACTTTGATACAAGTGATGAGTACCTTTCCAACTTGGAAAATGTTTTTTTAAAAAGACATAAAAACTT... |
Task1_train_29210 | This alteration in CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Juvenile retinoschisis | CACATTTCAAGTGGCCGCCATATTGGACAGTGCAGATGTGAACATTTCCATCACAGAAAGTTCTATTGGAGGGTGCTGCTAGAAAATGCCACTTGACTCATCGCTTTTGAGTTTTTATCCTTTGCATTTTGACATTTTGAAAAGGCCCACATCACACTTACATGTTCCAAAGGTATCCAAAGTAGGGCTCAAGTGAAAACCCGTGCTTGGCTCAGGAGTTGTAAGCCAAAACTTAAATGTGTATTCCTACTTTGATACAAGTGATGAGTACCTTTCCAACTTGGAAAATGTTTTTTTAAAAAGACATAAAAACTTGGCCA... | CACATTTCAAGTGGCCGCCATATTGGACAGTGCAGATGTGAACATTTCCATCACAGAAAGTTCTATTGGAGGGTGCTGCTAGAAAATGCCACTTGACTCATCGCTTTTGAGTTTTTATCCTTTGCATTTTGACATTTTGAAAAGGCCCACATCACACTTACATGTTCCAAAGGTATCCAAAGTAGGGCTCAAGTGAAAACCCGTGCTTGGCTCAGGAGTTGTAAGCCAAAACTTAAATGTGTATTCCTACTTTGATACAAGTGATGAGTACCTTTCCAACTTGGAAAATGTTTTTTTAAAAAGACATAAAAACTTGGCCA... |
Task1_train_29211 | Given a variant located on Chromosome X and affecting CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Retinal dystrophy | AACATTTCCATCACAGAAAGTTCTATTGGAGGGTGCTGCTAGAAAATGCCACTTGACTCATCGCTTTTGAGTTTTTATCCTTTGCATTTTGACATTTTGAAAAGGCCCACATCACACTTACATGTTCCAAAGGTATCCAAAGTAGGGCTCAAGTGAAAACCCGTGCTTGGCTCAGGAGTTGTAAGCCAAAACTTAAATGTGTATTCCTACTTTGATACAAGTGATGAGTACCTTTCCAACTTGGAAAATGTTTTTTTAAAAAGACATAAAAACTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG... | AACATTTCCATCACAGAAAGTTCTATTGGAGGGTGCTGCTAGAAAATGCCACTTGACTCATCGCTTTTGAGTTTTTATCCTTTGCATTTTGACATTTTGAAAAGGCCCACATCACACTTACATGTTCCAAAGGTATCCAAAGTAGGGCTCAAGTGAAAACCCGTGCTTGGCTCAGGAGTTGTAAGCCAAAACTTAAATGTGTATTCCTACTTTGATACAAGTGATGAGTACCTTTCCAACTTGGAAAATGTTTTTTTAAAAAGACATAAAAACTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG... |
Task1_train_29212 | This variant impacts the gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Juvenile retinoschisis | AACATTTCCATCACAGAAAGTTCTATTGGAGGGTGCTGCTAGAAAATGCCACTTGACTCATCGCTTTTGAGTTTTTATCCTTTGCATTTTGACATTTTGAAAAGGCCCACATCACACTTACATGTTCCAAAGGTATCCAAAGTAGGGCTCAAGTGAAAACCCGTGCTTGGCTCAGGAGTTGTAAGCCAAAACTTAAATGTGTATTCCTACTTTGATACAAGTGATGAGTACCTTTCCAACTTGGAAAATGTTTTTTTAAAAAGACATAAAAACTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG... | AACATTTCCATCACAGAAAGTTCTATTGGAGGGTGCTGCTAGAAAATGCCACTTGACTCATCGCTTTTGAGTTTTTATCCTTTGCATTTTGACATTTTGAAAAGGCCCACATCACACTTACATGTTCCAAAGGTATCCAAAGTAGGGCTCAAGTGAAAACCCGTGCTTGGCTCAGGAGTTGTAAGCCAAAACTTAAATGTGTATTCCTACTTTGATACAAGTGATGAGTACCTTTCCAACTTGGAAAATGTTTTTTTAAAAAGACATAAAAACTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG... |
Task1_train_29213 | A genomic change on Chromosome X affects CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | AACATTTCCATCACAGAAAGTTCTATTGGAGGGTGCTGCTAGAAAATGCCACTTGACTCATCGCTTTTGAGTTTTTATCCTTTGCATTTTGACATTTTGAAAAGGCCCACATCACACTTACATGTTCCAAAGGTATCCAAAGTAGGGCTCAAGTGAAAACCCGTGCTTGGCTCAGGAGTTGTAAGCCAAAACTTAAATGTGTATTCCTACTTTGATACAAGTGATGAGTACCTTTCCAACTTGGAAAATGTTTTTTTAAAAAGACATAAAAACTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG... | AACATTTCCATCACAGAAAGTTCTATTGGAGGGTGCTGCTAGAAAATGCCACTTGACTCATCGCTTTTGAGTTTTTATCCTTTGCATTTTGACATTTTGAAAAGGCCCACATCACACTTACATGTTCCAAAGGTATCCAAAGTAGGGCTCAAGTGAAAACCCGTGCTTGGCTCAGGAGTTGTAAGCCAAAACTTAAATGTGTATTCCTACTTTGATACAAGTGATGAGTACCTTTCCAACTTGGAAAATGTTTTTTTAAAAAGACATAAAAACTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG... |
Task1_train_29214 | A mutation in CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | ATTTCCATCACAGAAAGTTCTATTGGAGGGTGCTGCTAGAAAATGCCACTTGACTCATCGCTTTTGAGTTTTTATCCTTTGCATTTTGACATTTTGAAAAGGCCCACATCACACTTACATGTTCCAAAGGTATCCAAAGTAGGGCTCAAGTGAAAACCCGTGCTTGGCTCAGGAGTTGTAAGCCAAAACTTAAATGTGTATTCCTACTTTGATACAAGTGATGAGTACCTTTCCAACTTGGAAAATGTTTTTTTAAAAAGACATAAAAACTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCG... | ATTTCCATCACAGAAAGTTCTATTGGAGGGTGCTGCTAGAAAATGCCACTTGACTCATCGCTTTTGAGTTTTTATCCTTTGCATTTTGACATTTTGAAAAGGCCCACATCACACTTACATGTTCCAAAGGTATCCAAAGTAGGGCTCAAGTGAAAACCCGTGCTTGGCTCAGGAGTTGTAAGCCAAAACTTAAATGTGTATTCCTACTTTGATACAAGTGATGAGTACCTTTCCAACTTGGAAAATGTTTTTTTAAAAAGACATAAAAACTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCG... |
Task1_train_29215 | This variant affects gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Retinal dystrophy | ATTTCCATCACAGAAAGTTCTATTGGAGGGTGCTGCTAGAAAATGCCACTTGACTCATCGCTTTTGAGTTTTTATCCTTTGCATTTTGACATTTTGAAAAGGCCCACATCACACTTACATGTTCCAAAGGTATCCAAAGTAGGGCTCAAGTGAAAACCCGTGCTTGGCTCAGGAGTTGTAAGCCAAAACTTAAATGTGTATTCCTACTTTGATACAAGTGATGAGTACCTTTCCAACTTGGAAAATGTTTTTTTAAAAAGACATAAAAACTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCG... | ATTTCCATCACAGAAAGTTCTATTGGAGGGTGCTGCTAGAAAATGCCACTTGACTCATCGCTTTTGAGTTTTTATCCTTTGCATTTTGACATTTTGAAAAGGCCCACATCACACTTACATGTTCCAAAGGTATCCAAAGTAGGGCTCAAGTGAAAACCCGTGCTTGGCTCAGGAGTTGTAAGCCAAAACTTAAATGTGTATTCCTACTTTGATACAAGTGATGAGTACCTTTCCAACTTGGAAAATGTTTTTTTAAAAAGACATAAAAACTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCG... |
Task1_train_29216 | Here is a variant affecting CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | AGAAAGTTCTATTGGAGGGTGCTGCTAGAAAATGCCACTTGACTCATCGCTTTTGAGTTTTTATCCTTTGCATTTTGACATTTTGAAAAGGCCCACATCACACTTACATGTTCCAAAGGTATCCAAAGTAGGGCTCAAGTGAAAACCCGTGCTTGGCTCAGGAGTTGTAAGCCAAAACTTAAATGTGTATTCCTACTTTGATACAAGTGATGAGTACCTTTCCAACTTGGAAAATGTTTTTTTAAAAAGACATAAAAACTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCGGGCGG... | AGAAAGTTCTATTGGAGGGTGCTGCTAGAAAATGCCACTTGACTCATCGCTTTTGAGTTTTTATCCTTTGCATTTTGACATTTTGAAAAGGCCCACATCACACTTACATGTTCCAAAGGTATCCAAAGTAGGGCTCAAGTGAAAACCCGTGCTTGGCTCAGGAGTTGTAAGCCAAAACTTAAATGTGTATTCCTACTTTGATACAAGTGATGAGTACCTTTCCAACTTGGAAAATGTTTTTTTAAAAAGACATAAAAACTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCGGGCGG... |
Task1_train_29217 | A variant found in Chromosome X affects CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Retinal dystrophy | TGACATTTTGAAAAGGCCCACATCACACTTACATGTTCCAAAGGTATCCAAAGTAGGGCTCAAGTGAAAACCCGTGCTTGGCTCAGGAGTTGTAAGCCAAAACTTAAATGTGTATTCCTACTTTGATACAAGTGATGAGTACCTTTCCAACTTGGAAAATGTTTTTTTAAAAAGACATAAAAACTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCGGGCGGATCGTTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACACAGTGAGACCCCGTCTCTACTAAAAATACAAAA... | TGACATTTTGAAAAGGCCCACATCACACTTACATGTTCCAAAGGTATCCAAAGTAGGGCTCAAGTGAAAACCCGTGCTTGGCTCAGGAGTTGTAAGCCAAAACTTAAATGTGTATTCCTACTTTGATACAAGTGATGAGTACCTTTCCAACTTGGAAAATGTTTTTTTAAAAAGACATAAAAACTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCGGGCGGATCGTTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACACAGTGAGACCCCGTCTCTACTAAAAATACAAAA... |
Task1_train_29218 | This mutation occurs in CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | TGACATTTTGAAAAGGCCCACATCACACTTACATGTTCCAAAGGTATCCAAAGTAGGGCTCAAGTGAAAACCCGTGCTTGGCTCAGGAGTTGTAAGCCAAAACTTAAATGTGTATTCCTACTTTGATACAAGTGATGAGTACCTTTCCAACTTGGAAAATGTTTTTTTAAAAAGACATAAAAACTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCGGGCGGATCGTTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACACAGTGAGACCCCGTCTCTACTAAAAATACAAAA... | TGACATTTTGAAAAGGCCCACATCACACTTACATGTTCCAAAGGTATCCAAAGTAGGGCTCAAGTGAAAACCCGTGCTTGGCTCAGGAGTTGTAAGCCAAAACTTAAATGTGTATTCCTACTTTGATACAAGTGATGAGTACCTTTCCAACTTGGAAAATGTTTTTTTAAAAAGACATAAAAACTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCGGGCGGATCGTTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACACAGTGAGACCCCGTCTCTACTAAAAATACAAAA... |
Task1_train_29219 | This alteration in CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | CATTTTGAAAAGGCCCACATCACACTTACATGTTCCAAAGGTATCCAAAGTAGGGCTCAAGTGAAAACCCGTGCTTGGCTCAGGAGTTGTAAGCCAAAACTTAAATGTGTATTCCTACTTTGATACAAGTGATGAGTACCTTTCCAACTTGGAAAATGTTTTTTTAAAAAGACATAAAAACTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCGGGCGGATCGTTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACACAGTGAGACCCCGTCTCTACTAAAAATACAAAAAAA... | CATTTTGAAAAGGCCCACATCACACTTACATGTTCCAAAGGTATCCAAAGTAGGGCTCAAGTGAAAACCCGTGCTTGGCTCAGGAGTTGTAAGCCAAAACTTAAATGTGTATTCCTACTTTGATACAAGTGATGAGTACCTTTCCAACTTGGAAAATGTTTTTTTAAAAAGACATAAAAACTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCGGGCGGATCGTTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACACAGTGAGACCCCGTCTCTACTAAAAATACAAAAAAA... |
Task1_train_29220 | Given this context: Chromosome X, gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | AAGTTGTTTTTTTAGCTACATTCCTCATAAATCGTGGAAACCTATAGTAGTTCCCCCCGCCACCTCCTTTTTTCCTTTTAGTGTGTATTTTAATTAGCTTTGTAGGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCA... | AAGTTGTTTTTTTAGCTACATTCCTCATAAATCGTGGAAACCTATAGTAGTTCCCCCCGCCACCTCCTTTTTTCCTTTTAGTGTGTATTTTAATTAGCTTTGTAGGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCA... |
Task1_train_29221 | Given a variant located on Chromosome X and affecting CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | AAGTTGTTTTTTTAGCTACATTCCTCATAAATCGTGGAAACCTATAGTAGTTCCCCCCGCCACCTCCTTTTTTCCTTTTAGTGTGTATTTTAATTAGCTTTGTAGGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCA... | AAGTTGTTTTTTTAGCTACATTCCTCATAAATCGTGGAAACCTATAGTAGTTCCCCCCGCCACCTCCTTTTTTCCTTTTAGTGTGTATTTTAATTAGCTTTGTAGGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCA... |
Task1_train_29222 | A variant was discovered on Chromosome X, affecting CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | AAGTTGTTTTTTTAGCTACATTCCTCATAAATCGTGGAAACCTATAGTAGTTCCCCCCGCCACCTCCTTTTTTCCTTTTAGTGTGTATTTTAATTAGCTTTGTAGGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCA... | AAGTTGTTTTTTTAGCTACATTCCTCATAAATCGTGGAAACCTATAGTAGTTCCCCCCGCCACCTCCTTTTTTCCTTTTAGTGTGTATTTTAATTAGCTTTGTAGGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCA... |
Task1_train_29223 | Gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | GCTACATTCCTCATAAATCGTGGAAACCTATAGTAGTTCCCCCCGCCACCTCCTTTTTTCCTTTTAGTGTGTATTTTAATTAGCTTTGTAGGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAA... | GCTACATTCCTCATAAATCGTGGAAACCTATAGTAGTTCCCCCCGCCACCTCCTTTTTTCCTTTTAGTGTGTATTTTAATTAGCTTTGTAGGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAA... |
Task1_train_29224 | Gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Juvenile retinoschisis | TTCCTCATAAATCGTGGAAACCTATAGTAGTTCCCCCCGCCACCTCCTTTTTTCCTTTTAGTGTGTATTTTAATTAGCTTTGTAGGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCAT... | TTCCTCATAAATCGTGGAAACCTATAGTAGTTCCCCCCGCCACCTCCTTTTTTCCTTTTAGTGTGTATTTTAATTAGCTTTGTAGGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCAT... |
Task1_train_29225 | With a mutation on Chromosome X in gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Retinal dystrophy | TTCCTCATAAATCGTGGAAACCTATAGTAGTTCCCCCCGCCACCTCCTTTTTTCCTTTTAGTGTGTATTTTAATTAGCTTTGTAGGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCAT... | TTCCTCATAAATCGTGGAAACCTATAGTAGTTCCCCCCGCCACCTCCTTTTTTCCTTTTAGTGTGTATTTTAATTAGCTTTGTAGGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCAT... |
Task1_train_29226 | The variant affects gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | CTCATAAATCGTGGAAACCTATAGTAGTTCCCCCCGCCACCTCCTTTTTTCCTTTTAGTGTGTATTTTAATTAGCTTTGTAGGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCT... | CTCATAAATCGTGGAAACCTATAGTAGTTCCCCCCGCCACCTCCTTTTTTCCTTTTAGTGTGTATTTTAATTAGCTTTGTAGGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCT... |
Task1_train_29227 | Chromosome X houses a mutation in gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Retinal dystrophy | CGTGGAAACCTATAGTAGTTCCCCCCGCCACCTCCTTTTTTCCTTTTAGTGTGTATTTTAATTAGCTTTGTAGGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGT... | CGTGGAAACCTATAGTAGTTCCCCCCGCCACCTCCTTTTTTCCTTTTAGTGTGTATTTTAATTAGCTTTGTAGGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGT... |
Task1_train_29228 | This variant impacts the gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | AAACCTATAGTAGTTCCCCCCGCCACCTCCTTTTTTCCTTTTAGTGTGTATTTTAATTAGCTTTGTAGGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATG... | AAACCTATAGTAGTTCCCCCCGCCACCTCCTTTTTTCCTTTTAGTGTGTATTTTAATTAGCTTTGTAGGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATG... |
Task1_train_29229 | This variant affects gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Juvenile retinoschisis | ACCTATAGTAGTTCCCCCCGCCACCTCCTTTTTTCCTTTTAGTGTGTATTTTAATTAGCTTTGTAGGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATGCC... | ACCTATAGTAGTTCCCCCCGCCACCTCCTTTTTTCCTTTTAGTGTGTATTTTAATTAGCTTTGTAGGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATGCC... |
Task1_train_29230 | This mutation is located in gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Retinal dystrophy | ACCTATAGTAGTTCCCCCCGCCACCTCCTTTTTTCCTTTTAGTGTGTATTTTAATTAGCTTTGTAGGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATGCC... | ACCTATAGTAGTTCCCCCCGCCACCTCCTTTTTTCCTTTTAGTGTGTATTTTAATTAGCTTTGTAGGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATGCC... |
Task1_train_29231 | Located on Chromosome X, this mutation impacts CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Retinal dystrophy | GTTCCCCCCGCCACCTCCTTTTTTCCTTTTAGTGTGTATTTTAATTAGCTTTGTAGGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATGCCGGCCACCTGA... | GTTCCCCCCGCCACCTCCTTTTTTCCTTTTAGTGTGTATTTTAATTAGCTTTGTAGGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATGCCGGCCACCTGA... |
Task1_train_29232 | A variant was discovered in gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | TTTGTAGGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATGCCGGCCACCTGAGAACCATCCTGGGCCCCTCCTCTCCACCTCCAGTGCCCAATCTATCTAT... | TTTGTAGGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATGCCGGCCACCTGAGAACCATCCTGGGCCCCTCCTCTCCACCTCCAGTGCCCAATCTATCTAT... |
Task1_train_29233 | Located on Chromosome X, this mutation impacts CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Retinal dystrophy | GGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATGCCGGCCACCTGAGAACCATCCTGGGCCCCTCCTCTCCACCTCCAGTGCCCAATCTATCTATTGGCTC... | GGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATGCCGGCCACCTGAGAACCATCCTGGGCCCCTCCTCTCCACCTCCAGTGCCCAATCTATCTATTGGCTC... |
Task1_train_29234 | Given this variant in gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | TAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATGCCGGCCACCTGAGAACCATCCTGGGCCCCTCCTCTCCACCTCCAGTGCCCAATCTATCTATTGGCTCCATCT... | TAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATGCCGGCCACCTGAGAACCATCCTGGGCCCCTCCTCTCCACCTCCAGTGCCCAATCTATCTATTGGCTCCATCT... |
Task1_train_29235 | Here’s a variant in CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | AAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATGCCGGCCACCTGAGAACCATCCTGGGCCCCTCCTCTCCACCTCCAGTGCCCAATCTATCTATTGGCTCCATCTC... | AAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATGCCGGCCACCTGAGAACCATCCTGGGCCCCTCCTCTCCACCTCCAGTGCCCAATCTATCTATTGGCTCCATCTC... |
Task1_train_29236 | Given this context: Chromosome X, gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | AAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATGCCGGCCACCTGAGAACCATCCTGGGCCCCTCCTCTCCACCTCCAGTGCCCAATCTATCTATTGGCTCCATCTC... | AAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATGCCGGCCACCTGAGAACCATCCTGGGCCCCTCCTCTCCACCTCCAGTGCCCAATCTATCTATTGGCTCCATCTC... |
Task1_train_29237 | This sequence change occurs on Chromosome X, altering CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Juvenile retinoschisis | AGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATGCCGGCCACCTGAGAACCATCCTGGGCCCCTCCTCTCCACCTCCAGTGCCCAATCTATCTATTGGCTCCATCTCC... | AGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATGCCGGCCACCTGAGAACCATCCTGGGCCCCTCCTCTCCACCTCCAGTGCCCAATCTATCTATTGGCTCCATCTCC... |
Task1_train_29238 | A variant was discovered on Chromosome X, affecting CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Retinal dystrophy | AGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATGCCGGCCACCTGAGAACCATCCTGGGCCCCTCCTCTCCACCTCCAGTGCCCAATCTATCTATTGGCTCCATCTCC... | AGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATGCCGGCCACCTGAGAACCATCCTGGGCCCCTCCTCTCCACCTCCAGTGCCCAATCTATCTATTGGCTCCATCTCC... |
Task1_train_29239 | This variant impacts the gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | GGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATGCCGGCCACCTGAGAACCATCCTGGGCCCCTCCTCTCCACCTCCAGTGCCCAATCTATCTATTGGCTCCATCTCCAAGTGC... | GGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATGCCGGCCACCTGAGAACCATCCTGGGCCCCTCCTCTCCACCTCCAGTGCCCAATCTATCTATTGGCTCCATCTCCAAGTGC... |
Task1_train_29240 | The gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Juvenile retinoschisis | GGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATGCCGGCCACCTGAGAACCATCCTGGGCCCCTCCTCTCCACCTCCAGTGCCCAATCTATCTATTGGCTCCATCTCCAAGTGC... | GGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATGCCGGCCACCTGAGAACCATCCTGGGCCCCTCCTCTCCACCTCCAGTGCCCAATCTATCTATTGGCTCCATCTCCAAGTGC... |
Task1_train_29241 | Gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Retinal dystrophy | GGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATGCCGGCCACCTGAGAACCATCCTGGGCCCCTCCTCTCCACCTCCAGTGCCCAATCTATCTATTGGCTCCATCTCCAAGTGC... | GGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATGCCGGCCACCTGAGAACCATCCTGGGCCCCTCCTCTCCACCTCCAGTGCCCAATCTATCTATTGGCTCCATCTCCAAGTGC... |
Task1_train_29242 | This alteration occurs within gene RS1 (retinoschisin 1) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | ATAAATGGATTATTAATGAGGGTGCGTCAGTATTGACTGAGCCAATCATACCAACATTTAATGGCTGCGTGAGCTCATGCCATGGAGCCTGAGGGGATGTCTGATAGGAAAAGCCCACCGGTTTCCTCACGATTGGGACCCCATAGTTCCCTTGGAAAACAAACTTAGTTCAGAAATGACTTCCCCTTCAGAAAATAGGAAAATCACGCAGTAGAAACCATTGTACCCTACCCTCCCACACACACATTGCAATTTGCTTTTTTAATGCATATTTAATGAAATAATGAAAAGAGCCTCACACACAGACACACAAACCTGTC... | ATAAATGGATTATTAATGAGGGTGCGTCAGTATTGACTGAGCCAATCATACCAACATTTAATGGCTGCGTGAGCTCATGCCATGGAGCCTGAGGGGATGTCTGATAGGAAAAGCCCACCGGTTTCCTCACGATTGGGACCCCATAGTTCCCTTGGAAAACAAACTTAGTTCAGAAATGACTTCCCCTTCAGAAAATAGGAAAATCACGCAGTAGAAACCATTGTACCCTACCCTCCCACACACACATTGCAATTTGCTTTTTTAATGCATATTTAATGAAATAATGAAAAGAGCCTCACACACAGACACACAAACCTGTC... |
Task1_train_29243 | This mutation occurs in RS1 (retinoschisin 1) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Retinal dystrophy | ATAAATGGATTATTAATGAGGGTGCGTCAGTATTGACTGAGCCAATCATACCAACATTTAATGGCTGCGTGAGCTCATGCCATGGAGCCTGAGGGGATGTCTGATAGGAAAAGCCCACCGGTTTCCTCACGATTGGGACCCCATAGTTCCCTTGGAAAACAAACTTAGTTCAGAAATGACTTCCCCTTCAGAAAATAGGAAAATCACGCAGTAGAAACCATTGTACCCTACCCTCCCACACACACATTGCAATTTGCTTTTTTAATGCATATTTAATGAAATAATGAAAAGAGCCTCACACACAGACACACAAACCTGTC... | ATAAATGGATTATTAATGAGGGTGCGTCAGTATTGACTGAGCCAATCATACCAACATTTAATGGCTGCGTGAGCTCATGCCATGGAGCCTGAGGGGATGTCTGATAGGAAAAGCCCACCGGTTTCCTCACGATTGGGACCCCATAGTTCCCTTGGAAAACAAACTTAGTTCAGAAATGACTTCCCCTTCAGAAAATAGGAAAATCACGCAGTAGAAACCATTGTACCCTACCCTCCCACACACACATTGCAATTTGCTTTTTTAATGCATATTTAATGAAATAATGAAAAGAGCCTCACACACAGACACACAAACCTGTC... |
Task1_train_29244 | The gene RS1 (retinoschisin 1), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | GGAGCTCCCCAGCCATGCACAAAGATTGGTAAACTTTAGAACACGAAAGAGTGCTATCCTTCATGCCTCCTGACAGCCTGTCTTTTATTGCTGATATCCACTAACTGGGCAGGTCTAATTTTAAAATGCTTTGGTAAACATTTCTAGGACTTCTTCGCATCGCGGGGGTGGGGAGGTCACAGAACAGGGTTGTTAGACTCAGCACTGTGGAAGAAACAAGGATGCCCTGCATGTCAAGTCCTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCGCTCAGTCACCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACT... | GGAGCTCCCCAGCCATGCACAAAGATTGGTAAACTTTAGAACACGAAAGAGTGCTATCCTTCATGCCTCCTGACAGCCTGTCTTTTATTGCTGATATCCACTAACTGGGCAGGTCTAATTTTAAAATGCTTTGGTAAACATTTCTAGGACTTCTTCGCATCGCGGGGGTGGGGAGGTCACAGAACAGGGTTGTTAGACTCAGCACTGTGGAAGAAACAAGGATGCCCTGCATGTCAAGTCCTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCGCTCAGTCACCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACT... |
Task1_train_29245 | A change on Chromosome X affects gene RS1 (retinoschisin 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Retinal dystrophy | TTAGAACACGAAAGAGTGCTATCCTTCATGCCTCCTGACAGCCTGTCTTTTATTGCTGATATCCACTAACTGGGCAGGTCTAATTTTAAAATGCTTTGGTAAACATTTCTAGGACTTCTTCGCATCGCGGGGGTGGGGAGGTCACAGAACAGGGTTGTTAGACTCAGCACTGTGGAAGAAACAAGGATGCCCTGCATGTCAAGTCCTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCGCTCAGTCACCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCCCTCTCCAGCAATCAGACGATTCTCCC... | TTAGAACACGAAAGAGTGCTATCCTTCATGCCTCCTGACAGCCTGTCTTTTATTGCTGATATCCACTAACTGGGCAGGTCTAATTTTAAAATGCTTTGGTAAACATTTCTAGGACTTCTTCGCATCGCGGGGGTGGGGAGGTCACAGAACAGGGTTGTTAGACTCAGCACTGTGGAAGAAACAAGGATGCCCTGCATGTCAAGTCCTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCGCTCAGTCACCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCCCTCTCCAGCAATCAGACGATTCTCCC... |
Task1_train_29246 | This gene mutation involves RS1 (retinoschisin 1) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | AGAACACGAAAGAGTGCTATCCTTCATGCCTCCTGACAGCCTGTCTTTTATTGCTGATATCCACTAACTGGGCAGGTCTAATTTTAAAATGCTTTGGTAAACATTTCTAGGACTTCTTCGCATCGCGGGGGTGGGGAGGTCACAGAACAGGGTTGTTAGACTCAGCACTGTGGAAGAAACAAGGATGCCCTGCATGTCAAGTCCTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCGCTCAGTCACCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCCCTCTCCAGCAATCAGACGATTCTCCCGC... | AGAACACGAAAGAGTGCTATCCTTCATGCCTCCTGACAGCCTGTCTTTTATTGCTGATATCCACTAACTGGGCAGGTCTAATTTTAAAATGCTTTGGTAAACATTTCTAGGACTTCTTCGCATCGCGGGGGTGGGGAGGTCACAGAACAGGGTTGTTAGACTCAGCACTGTGGAAGAAACAAGGATGCCCTGCATGTCAAGTCCTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCGCTCAGTCACCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCCCTCTCCAGCAATCAGACGATTCTCCCGC... |
Task1_train_29247 | The gene PHKA2, PHKA2-AS1 (phosphorylase kinase regulatory subunit alpha 2| PHKA2 antisense RNA 1) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Glycogen storage disease IXa1 | TTGAAATGATCCACGGGGCAGGTGAATTACGTGTCATCTCCAAGACTCTTGTTTCTGTCGGGCATGTCTTAAAGACACACACACATGCAAAGGCTATGAAAATGCGACCCCCCAGACCTGGGAAGCTGCAGCCCGTGGAGCCTCAGGGGCAAAGGGAGCAAACTGGCTTGTGAGGGAAGAGCTGCTCTGGTCAGCGGCTGTTGTGGGATGGGGAGGGAACAGGGTGACCCAAGGGGGCAGGGGCCTGGTGCCATGTCTGCTCATGTGCCGCCCTCCTTGTCTCTGGGATCTGCCCCCAAAATGCAAGAAACGCGTAAGCC... | TTGAAATGATCCACGGGGCAGGTGAATTACGTGTCATCTCCAAGACTCTTGTTTCTGTCGGGCATGTCTTAAAGACACACACACATGCAAAGGCTATGAAAATGCGACCCCCCAGACCTGGGAAGCTGCAGCCCGTGGAGCCTCAGGGGCAAAGGGAGCAAACTGGCTTGTGAGGGAAGAGCTGCTCTGGTCAGCGGCTGTTGTGGGATGGGGAGGGAACAGGGTGACCCAAGGGGGCAGGGGCCTGGTGCCATGTCTGCTCATGTGCCGCCCTCCTTGTCTCTGGGATCTGCCCCCAAAATGCAAGAAACGCGTAAGCC... |
Task1_train_29248 | The gene PHKA2 (phosphorylase kinase regulatory subunit alpha 2), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Glycogen storage disease IXa1 | GGAAAGAACAACAGCAACAACAAAACCTGTCTGTGATGGAATGTTCTTGCTAGACCCCAGTGAACCACGCCTCCTAGTACTCATGCCCTTGTCTAGTCCCCTCCCGCTTGAATATGGGATGGTCCTTTAGCCAACAGAATGTGATGAAAGTGACATTTTGTCAGTTCCGGGCCTAACACTTATGGAAGCTTGGCAGCTTCTGCTTTTGTGTTCTGAGGGGAAAACAACCAACATGTAAAATTAATGGCCCAGAGACTACAATATTGTGAGAAGCCCAAGCTAGCCATGTGGAGGAGAACCAAGGCCCCCACCAATAGCAC... | GGAAAGAACAACAGCAACAACAAAACCTGTCTGTGATGGAATGTTCTTGCTAGACCCCAGTGAACCACGCCTCCTAGTACTCATGCCCTTGTCTAGTCCCCTCCCGCTTGAATATGGGATGGTCCTTTAGCCAACAGAATGTGATGAAAGTGACATTTTGTCAGTTCCGGGCCTAACACTTATGGAAGCTTGGCAGCTTCTGCTTTTGTGTTCTGAGGGGAAAACAACCAACATGTAAAATTAATGGCCCAGAGACTACAATATTGTGAGAAGCCCAAGCTAGCCATGTGGAGGAGAACCAAGGCCCCCACCAATAGCAC... |
Task1_train_29249 | A sequence alteration has been identified in PHKA2 (phosphorylase kinase regulatory subunit alpha 2) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Glycogen storage disease IXa1 | GCAACAACAAAACCTGTCTGTGATGGAATGTTCTTGCTAGACCCCAGTGAACCACGCCTCCTAGTACTCATGCCCTTGTCTAGTCCCCTCCCGCTTGAATATGGGATGGTCCTTTAGCCAACAGAATGTGATGAAAGTGACATTTTGTCAGTTCCGGGCCTAACACTTATGGAAGCTTGGCAGCTTCTGCTTTTGTGTTCTGAGGGGAAAACAACCAACATGTAAAATTAATGGCCCAGAGACTACAATATTGTGAGAAGCCCAAGCTAGCCATGTGGAGGAGAACCAAGGCCCCCACCAATAGCACAGCTGAGTTCCCA... | GCAACAACAAAACCTGTCTGTGATGGAATGTTCTTGCTAGACCCCAGTGAACCACGCCTCCTAGTACTCATGCCCTTGTCTAGTCCCCTCCCGCTTGAATATGGGATGGTCCTTTAGCCAACAGAATGTGATGAAAGTGACATTTTGTCAGTTCCGGGCCTAACACTTATGGAAGCTTGGCAGCTTCTGCTTTTGTGTTCTGAGGGGAAAACAACCAACATGTAAAATTAATGGCCCAGAGACTACAATATTGTGAGAAGCCCAAGCTAGCCATGTGGAGGAGAACCAAGGCCCCCACCAATAGCACAGCTGAGTTCCCA... |
Task1_train_29250 | The gene PHKA2 (phosphorylase kinase regulatory subunit alpha 2), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Glycogen phosphorylase kinase deficiency | GCAACAACAAAACCTGTCTGTGATGGAATGTTCTTGCTAGACCCCAGTGAACCACGCCTCCTAGTACTCATGCCCTTGTCTAGTCCCCTCCCGCTTGAATATGGGATGGTCCTTTAGCCAACAGAATGTGATGAAAGTGACATTTTGTCAGTTCCGGGCCTAACACTTATGGAAGCTTGGCAGCTTCTGCTTTTGTGTTCTGAGGGGAAAACAACCAACATGTAAAATTAATGGCCCAGAGACTACAATATTGTGAGAAGCCCAAGCTAGCCATGTGGAGGAGAACCAAGGCCCCCACCAATAGCACAGCTGAGTTCCCA... | GCAACAACAAAACCTGTCTGTGATGGAATGTTCTTGCTAGACCCCAGTGAACCACGCCTCCTAGTACTCATGCCCTTGTCTAGTCCCCTCCCGCTTGAATATGGGATGGTCCTTTAGCCAACAGAATGTGATGAAAGTGACATTTTGTCAGTTCCGGGCCTAACACTTATGGAAGCTTGGCAGCTTCTGCTTTTGTGTTCTGAGGGGAAAACAACCAACATGTAAAATTAATGGCCCAGAGACTACAATATTGTGAGAAGCCCAAGCTAGCCATGTGGAGGAGAACCAAGGCCCCCACCAATAGCACAGCTGAGTTCCCA... |
Task1_train_29251 | This sequence change occurs on Chromosome X, altering PHKA2 (phosphorylase kinase regulatory subunit alpha 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Glycogen storage disease IXa1 | AGGTTGGATTGATGCGGGGAAGGTTCCAACAGAGCAAGGATTTTAGTCCAGAAGAACCAGAGACACTGTCTCTATCTTTGAGAGAGCCAAAGAGAAGGGTGAATACTTTTCCCAGTGGGAGACAGGGAGTCCCCAGCTCCAGGAGCTGGCCTTCCACCCTGCAGAAAAATATAGTCAGTTATAACAAATACAGGTATTTTTAAAGTATGAATTCTGGAAGCTGCTATGGATATGATAGGAAATGGACTCTTACATCAATGAGGGCAGCTTAACTAGTAAGCCAGATTAGAATTTCAATCAGAACTAAGTTTAACTAGAAA... | AGGTTGGATTGATGCGGGGAAGGTTCCAACAGAGCAAGGATTTTAGTCCAGAAGAACCAGAGACACTGTCTCTATCTTTGAGAGAGCCAAAGAGAAGGGTGAATACTTTTCCCAGTGGGAGACAGGGAGTCCCCAGCTCCAGGAGCTGGCCTTCCACCCTGCAGAAAAATATAGTCAGTTATAACAAATACAGGTATTTTTAAAGTATGAATTCTGGAAGCTGCTATGGATATGATAGGAAATGGACTCTTACATCAATGAGGGCAGCTTAACTAGTAAGCCAGATTAGAATTTCAATCAGAACTAAGTTTAACTAGAAA... |
Task1_train_29252 | This sequence change occurs on Chromosome X, altering PHKA2 (phosphorylase kinase regulatory subunit alpha 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Glycogen storage disease IXa1 | GGTTGGATTGATGCGGGGAAGGTTCCAACAGAGCAAGGATTTTAGTCCAGAAGAACCAGAGACACTGTCTCTATCTTTGAGAGAGCCAAAGAGAAGGGTGAATACTTTTCCCAGTGGGAGACAGGGAGTCCCCAGCTCCAGGAGCTGGCCTTCCACCCTGCAGAAAAATATAGTCAGTTATAACAAATACAGGTATTTTTAAAGTATGAATTCTGGAAGCTGCTATGGATATGATAGGAAATGGACTCTTACATCAATGAGGGCAGCTTAACTAGTAAGCCAGATTAGAATTTCAATCAGAACTAAGTTTAACTAGAAAC... | GGTTGGATTGATGCGGGGAAGGTTCCAACAGAGCAAGGATTTTAGTCCAGAAGAACCAGAGACACTGTCTCTATCTTTGAGAGAGCCAAAGAGAAGGGTGAATACTTTTCCCAGTGGGAGACAGGGAGTCCCCAGCTCCAGGAGCTGGCCTTCCACCCTGCAGAAAAATATAGTCAGTTATAACAAATACAGGTATTTTTAAAGTATGAATTCTGGAAGCTGCTATGGATATGATAGGAAATGGACTCTTACATCAATGAGGGCAGCTTAACTAGTAAGCCAGATTAGAATTTCAATCAGAACTAAGTTTAACTAGAAAC... |
Task1_train_29253 | Given this variant in gene PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Pyruvate dehydrogenase E1-alpha deficiency | TTGCTATATCTTCAGTGTGTAGTACAGTGTCTGACACAAAATCGGTGCTCAATAATAGGTGTTGGATGAATGAGCAAATGAATGAATGAATTCATATTCATATGGCCTACAGAGTTCCCGTACATGCACAACCAATATCACCACCCCGTGGAGATGACTCCCAAATTAATATTTTTAGCAAATGTTCCAGACTTACAACTCCAACTTCCCGGGGGACATCTTCAGATAGCTGTGCCACTGCCACCACCAGGTCAACATGTCCCAAACCATTCAGACCAGCTTTTTCTCCTGAGCTGGACATCTGGCCTCCAACCTTTTCA... | TTGCTATATCTTCAGTGTGTAGTACAGTGTCTGACACAAAATCGGTGCTCAATAATAGGTGTTGGATGAATGAGCAAATGAATGAATGAATTCATATTCATATGGCCTACAGAGTTCCCGTACATGCACAACCAATATCACCACCCCGTGGAGATGACTCCCAAATTAATATTTTTAGCAAATGTTCCAGACTTACAACTCCAACTTCCCGGGGGACATCTTCAGATAGCTGTGCCACTGCCACCACCAGGTCAACATGTCCCAAACCATTCAGACCAGCTTTTTCTCCTGAGCTGGACATCTGGCCTCCAACCTTTTCA... |
Task1_train_29254 | Given this variant in gene PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Pyruvate dehydrogenase complex deficiency | GTACACTCCAGGGTATACTTGGCAGATCAGTCTTAACTCTTCTCACCAAGATCAGTCCAGTGCTGGATTAGGTAAGGTATGAACACATCAGATGTGCTTTTTATGGAGAAATCATGTTGGTTTACACGTCAGTGTGTGAGAATGTGGCAGAAGGGAGCTAAAATAGTATGATAATACTACTGGATAAATTTTGTGGTCTAACCTAAACCTTAGCCATTACATAGAATACTTTTGCTGTGAGCAGGTTTGCTCAGTTGTAAAACTGGAAAGGAATCATTTCTCACCCCCCGCCTCCAAGCTTTTTACCTCCAAACAGTGAC... | GTACACTCCAGGGTATACTTGGCAGATCAGTCTTAACTCTTCTCACCAAGATCAGTCCAGTGCTGGATTAGGTAAGGTATGAACACATCAGATGTGCTTTTTATGGAGAAATCATGTTGGTTTACACGTCAGTGTGTGAGAATGTGGCAGAAGGGAGCTAAAATAGTATGATAATACTACTGGATAAATTTTGTGGTCTAACCTAAACCTTAGCCATTACATAGAATACTTTTGCTGTGAGCAGGTTTGCTCAGTTGTAAAACTGGAAAGGAATCATTTCTCACCCCCCGCCTCCAAGCTTTTTACCTCCAAACAGTGAC... |
Task1_train_29255 | This is a variant in PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Pyruvate dehydrogenase E1-alpha deficiency | GTGCTGGTAGCATCCCGTAATTTTGCAAATGATGCTACATTTGAAATTAAGGTAAGAGGTGTTTTACTTTGTTAATAATTTTTTCACAGGTACACTCTGATATACAGTTTTACCTTTAGAATAGAACATTTTGATGTTCATGCTTAGTCATCATTTTCTTCTAAATGTTCCAGGATCAGAAGTTCAGAGAAGCTTCACGAAAACTAGAATTTATTATTAGCAGCTTGCTGTTGTTCTGTGGGGGGAAGGGGGAGGAGCTAGAAAATGAAAATAAAAATAAAAGCTTATTCAAAAGTTTGGAATGTAATTCAGTGAAATAT... | GTGCTGGTAGCATCCCGTAATTTTGCAAATGATGCTACATTTGAAATTAAGGTAAGAGGTGTTTTACTTTGTTAATAATTTTTTCACAGGTACACTCTGATATACAGTTTTACCTTTAGAATAGAACATTTTGATGTTCATGCTTAGTCATCATTTTCTTCTAAATGTTCCAGGATCAGAAGTTCAGAGAAGCTTCACGAAAACTAGAATTTATTATTAGCAGCTTGCTGTTGTTCTGTGGGGGGAAGGGGGAGGAGCTAGAAAATGAAAATAAAAATAAAAGCTTATTCAAAAGTTTGGAATGTAATTCAGTGAAATAT... |
Task1_train_29256 | Assess the clinical impact of this variant on gene PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Pyruvate dehydrogenase E1-alpha deficiency | CTGATGTAGGCTTTTCTTTTAGGTCATCATACAGGAGAAAGGAAGGAAGTGGCACATGTGTGGGTTGCCAGTTTATTGCTTCTGGTTTGGGCCTTCCACTCTGTATTTTGGTGGAAAATAGCTACTTTCTCTGGTTATTAATGACAGGTTCTACTAGCCCACATATTTCACTGTGGTCTAGGAAACGTTTTTATTTAGAAACATGTATCATATTGCCTCATAGTTTCTCCTTCCTCTAACACAGGAAGCTTGCTGTGTGGGCCTGGAGGCCGGCATCAACCCCACAGACCATCTCATCACAGCCTACCGGGCTCACGGCT... | CTGATGTAGGCTTTTCTTTTAGGTCATCATACAGGAGAAAGGAAGGAAGTGGCACATGTGTGGGTTGCCAGTTTATTGCTTCTGGTTTGGGCCTTCCACTCTGTATTTTGGTGGAAAATAGCTACTTTCTCTGGTTATTAATGACAGGTTCTACTAGCCCACATATTTCACTGTGGTCTAGGAAACGTTTTTATTTAGAAACATGTATCATATTGCCTCATAGTTTCTCCTTCCTCTAACACAGGAAGCTTGCTGTGTGGGCCTGGAGGCCGGCATCAACCCCACAGACCATCTCATCACAGCCTACCGGGCTCACGGCT... |
Task1_train_29257 | Consider this mutation in PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Pyruvate dehydrogenase E1-alpha deficiency | TGGGTTGCCAGTTTATTGCTTCTGGTTTGGGCCTTCCACTCTGTATTTTGGTGGAAAATAGCTACTTTCTCTGGTTATTAATGACAGGTTCTACTAGCCCACATATTTCACTGTGGTCTAGGAAACGTTTTTATTTAGAAACATGTATCATATTGCCTCATAGTTTCTCCTTCCTCTAACACAGGAAGCTTGCTGTGTGGGCCTGGAGGCCGGCATCAACCCCACAGACCATCTCATCACAGCCTACCGGGCTCACGGCTTTACTTTCACCCGGGGCCTTTCCGTCCGAGAAATTCTCGCAGAGCTTACAGGTTTGCTGT... | TGGGTTGCCAGTTTATTGCTTCTGGTTTGGGCCTTCCACTCTGTATTTTGGTGGAAAATAGCTACTTTCTCTGGTTATTAATGACAGGTTCTACTAGCCCACATATTTCACTGTGGTCTAGGAAACGTTTTTATTTAGAAACATGTATCATATTGCCTCATAGTTTCTCCTTCCTCTAACACAGGAAGCTTGCTGTGTGGGCCTGGAGGCCGGCATCAACCCCACAGACCATCTCATCACAGCCTACCGGGCTCACGGCTTTACTTTCACCCGGGGCCTTTCCGTCCGAGAAATTCTCGCAGAGCTTACAGGTTTGCTGT... |
Task1_train_29258 | This sequence change occurs on Chromosome X, altering PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Pyruvate dehydrogenase complex deficiency | GTTTGGGCCTTCCACTCTGTATTTTGGTGGAAAATAGCTACTTTCTCTGGTTATTAATGACAGGTTCTACTAGCCCACATATTTCACTGTGGTCTAGGAAACGTTTTTATTTAGAAACATGTATCATATTGCCTCATAGTTTCTCCTTCCTCTAACACAGGAAGCTTGCTGTGTGGGCCTGGAGGCCGGCATCAACCCCACAGACCATCTCATCACAGCCTACCGGGCTCACGGCTTTACTTTCACCCGGGGCCTTTCCGTCCGAGAAATTCTCGCAGAGCTTACAGGTTTGCTGTTGATTTACAGAAAGGGGAAATGAG... | GTTTGGGCCTTCCACTCTGTATTTTGGTGGAAAATAGCTACTTTCTCTGGTTATTAATGACAGGTTCTACTAGCCCACATATTTCACTGTGGTCTAGGAAACGTTTTTATTTAGAAACATGTATCATATTGCCTCATAGTTTCTCCTTCCTCTAACACAGGAAGCTTGCTGTGTGGGCCTGGAGGCCGGCATCAACCCCACAGACCATCTCATCACAGCCTACCGGGCTCACGGCTTTACTTTCACCCGGGGCCTTTCCGTCCGAGAAATTCTCGCAGAGCTTACAGGTTTGCTGTTGATTTACAGAAAGGGGAAATGAG... |
Task1_train_29259 | This genomic variant is located on Chromosome X, within the PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Pyruvate dehydrogenase E1-alpha deficiency | TGAACTCTTGACCTCAGGTGATCCACCCTCTTCGGCCTCCCAAAATGTTAGGATTACAGGCGTGAGCCGCCGTGCCCGGCCCTCCTTGACTCTTGAACTATGGTTGTCCCTCTATATATCCAGGGGATTGGTTCTAGGACCCTCGAGTATACAAAAATCCTCAAATACTCAAGTCCCAAAGTCAGCCTTCCATATCTTCGGGTTTGCATCCTGAGAATATTCTATTTTCAATACATGTGTGGCTGAAAAAAAATCTGTGTATAAGTGTACCTGTGCAGTTCAAACCCTGTTCAAGGATTGAATATATTTAGTGTACTAGT... | TGAACTCTTGACCTCAGGTGATCCACCCTCTTCGGCCTCCCAAAATGTTAGGATTACAGGCGTGAGCCGCCGTGCCCGGCCCTCCTTGACTCTTGAACTATGGTTGTCCCTCTATATATCCAGGGGATTGGTTCTAGGACCCTCGAGTATACAAAAATCCTCAAATACTCAAGTCCCAAAGTCAGCCTTCCATATCTTCGGGTTTGCATCCTGAGAATATTCTATTTTCAATACATGTGTGGCTGAAAAAAAATCTGTGTATAAGTGTACCTGTGCAGTTCAAACCCTGTTCAAGGATTGAATATATTTAGTGTACTAGT... |
Task1_train_29260 | A variant on Chromosome X in gene PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Pyruvate dehydrogenase E1-alpha deficiency | ATGGAGCTGAAAAATTCCTGTCGCCTAGTGATGTTGTAGTGGCACAACACATTACCTTTTCTACGTTTAGGTACACAAATATTTTGCCTACAGGATTCAGTAGAGTCACATGCTGTGCAGGGTTGTAGCCTAGGAGCAGTAGGCTCTACTATACAGCCTAGGTGTGCAGTGGGCTGTACCATCTAGGTTCGTGCATTACAGTATGGTGTTCACATGACAAAATCGCCTAGTGATGCAATTCTGAGAATATATCCCTGTTGTTAAGTGACGCGTGACTATTTTGGGGGCTTGGTTTGCTTTTAAAGACCTAGTGCTTCATA... | ATGGAGCTGAAAAATTCCTGTCGCCTAGTGATGTTGTAGTGGCACAACACATTACCTTTTCTACGTTTAGGTACACAAATATTTTGCCTACAGGATTCAGTAGAGTCACATGCTGTGCAGGGTTGTAGCCTAGGAGCAGTAGGCTCTACTATACAGCCTAGGTGTGCAGTGGGCTGTACCATCTAGGTTCGTGCATTACAGTATGGTGTTCACATGACAAAATCGCCTAGTGATGCAATTCTGAGAATATATCCCTGTTGTTAAGTGACGCGTGACTATTTTGGGGGCTTGGTTTGCTTTTAAAGACCTAGTGCTTCATA... |
Task1_train_29261 | With a mutation on Chromosome X in gene PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Pyruvate dehydrogenase E1-alpha deficiency | CTGAAAAATTCCTGTCGCCTAGTGATGTTGTAGTGGCACAACACATTACCTTTTCTACGTTTAGGTACACAAATATTTTGCCTACAGGATTCAGTAGAGTCACATGCTGTGCAGGGTTGTAGCCTAGGAGCAGTAGGCTCTACTATACAGCCTAGGTGTGCAGTGGGCTGTACCATCTAGGTTCGTGCATTACAGTATGGTGTTCACATGACAAAATCGCCTAGTGATGCAATTCTGAGAATATATCCCTGTTGTTAAGTGACGCGTGACTATTTTGGGGGCTTGGTTTGCTTTTAAAGACCTAGTGCTTCATATCCTAC... | CTGAAAAATTCCTGTCGCCTAGTGATGTTGTAGTGGCACAACACATTACCTTTTCTACGTTTAGGTACACAAATATTTTGCCTACAGGATTCAGTAGAGTCACATGCTGTGCAGGGTTGTAGCCTAGGAGCAGTAGGCTCTACTATACAGCCTAGGTGTGCAGTGGGCTGTACCATCTAGGTTCGTGCATTACAGTATGGTGTTCACATGACAAAATCGCCTAGTGATGCAATTCTGAGAATATATCCCTGTTGTTAAGTGACGCGTGACTATTTTGGGGGCTTGGTTTGCTTTTAAAGACCTAGTGCTTCATATCCTAC... |
Task1_train_29262 | This alteration in PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | GAAAAATTCCTGTCGCCTAGTGATGTTGTAGTGGCACAACACATTACCTTTTCTACGTTTAGGTACACAAATATTTTGCCTACAGGATTCAGTAGAGTCACATGCTGTGCAGGGTTGTAGCCTAGGAGCAGTAGGCTCTACTATACAGCCTAGGTGTGCAGTGGGCTGTACCATCTAGGTTCGTGCATTACAGTATGGTGTTCACATGACAAAATCGCCTAGTGATGCAATTCTGAGAATATATCCCTGTTGTTAAGTGACGCGTGACTATTTTGGGGGCTTGGTTTGCTTTTAAAGACCTAGTGCTTCATATCCTACCG... | GAAAAATTCCTGTCGCCTAGTGATGTTGTAGTGGCACAACACATTACCTTTTCTACGTTTAGGTACACAAATATTTTGCCTACAGGATTCAGTAGAGTCACATGCTGTGCAGGGTTGTAGCCTAGGAGCAGTAGGCTCTACTATACAGCCTAGGTGTGCAGTGGGCTGTACCATCTAGGTTCGTGCATTACAGTATGGTGTTCACATGACAAAATCGCCTAGTGATGCAATTCTGAGAATATATCCCTGTTGTTAAGTGACGCGTGACTATTTTGGGGGCTTGGTTTGCTTTTAAAGACCTAGTGCTTCATATCCTACCG... |
Task1_train_29263 | A sequence alteration has been identified in PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Pyruvate dehydrogenase E1-alpha deficiency | AACACATTACCTTTTCTACGTTTAGGTACACAAATATTTTGCCTACAGGATTCAGTAGAGTCACATGCTGTGCAGGGTTGTAGCCTAGGAGCAGTAGGCTCTACTATACAGCCTAGGTGTGCAGTGGGCTGTACCATCTAGGTTCGTGCATTACAGTATGGTGTTCACATGACAAAATCGCCTAGTGATGCAATTCTGAGAATATATCCCTGTTGTTAAGTGACGCGTGACTATTTTGGGGGCTTGGTTTGCTTTTAAAGACCTAGTGCTTCATATCCTACCGTTTGAGAGATGAGTAGATTTGGATGGTGATTTATAAT... | AACACATTACCTTTTCTACGTTTAGGTACACAAATATTTTGCCTACAGGATTCAGTAGAGTCACATGCTGTGCAGGGTTGTAGCCTAGGAGCAGTAGGCTCTACTATACAGCCTAGGTGTGCAGTGGGCTGTACCATCTAGGTTCGTGCATTACAGTATGGTGTTCACATGACAAAATCGCCTAGTGATGCAATTCTGAGAATATATCCCTGTTGTTAAGTGACGCGTGACTATTTTGGGGGCTTGGTTTGCTTTTAAAGACCTAGTGCTTCATATCCTACCGTTTGAGAGATGAGTAGATTTGGATGGTGATTTATAAT... |
Task1_train_29264 | A mutation found in PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Pyruvate dehydrogenase E1-alpha deficiency | GCCTACAGGATTCAGTAGAGTCACATGCTGTGCAGGGTTGTAGCCTAGGAGCAGTAGGCTCTACTATACAGCCTAGGTGTGCAGTGGGCTGTACCATCTAGGTTCGTGCATTACAGTATGGTGTTCACATGACAAAATCGCCTAGTGATGCAATTCTGAGAATATATCCCTGTTGTTAAGTGACGCGTGACTATTTTGGGGGCTTGGTTTGCTTTTAAAGACCTAGTGCTTCATATCCTACCGTTTGAGAGATGAGTAGATTTGGATGGTGATTTATAATGTTTCCTTTTAGGTGTCTGCTGTTTTATAAGTAAGCAGGA... | GCCTACAGGATTCAGTAGAGTCACATGCTGTGCAGGGTTGTAGCCTAGGAGCAGTAGGCTCTACTATACAGCCTAGGTGTGCAGTGGGCTGTACCATCTAGGTTCGTGCATTACAGTATGGTGTTCACATGACAAAATCGCCTAGTGATGCAATTCTGAGAATATATCCCTGTTGTTAAGTGACGCGTGACTATTTTGGGGGCTTGGTTTGCTTTTAAAGACCTAGTGCTTCATATCCTACCGTTTGAGAGATGAGTAGATTTGGATGGTGATTTATAATGTTTCCTTTTAGGTGTCTGCTGTTTTATAAGTAAGCAGGA... |
Task1_train_29265 | The following genetic variant occurs in PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Pyruvate dehydrogenase E1-alpha deficiency | CCTACAGGATTCAGTAGAGTCACATGCTGTGCAGGGTTGTAGCCTAGGAGCAGTAGGCTCTACTATACAGCCTAGGTGTGCAGTGGGCTGTACCATCTAGGTTCGTGCATTACAGTATGGTGTTCACATGACAAAATCGCCTAGTGATGCAATTCTGAGAATATATCCCTGTTGTTAAGTGACGCGTGACTATTTTGGGGGCTTGGTTTGCTTTTAAAGACCTAGTGCTTCATATCCTACCGTTTGAGAGATGAGTAGATTTGGATGGTGATTTATAATGTTTCCTTTTAGGTGTCTGCTGTTTTATAAGTAAGCAGGAA... | CCTACAGGATTCAGTAGAGTCACATGCTGTGCAGGGTTGTAGCCTAGGAGCAGTAGGCTCTACTATACAGCCTAGGTGTGCAGTGGGCTGTACCATCTAGGTTCGTGCATTACAGTATGGTGTTCACATGACAAAATCGCCTAGTGATGCAATTCTGAGAATATATCCCTGTTGTTAAGTGACGCGTGACTATTTTGGGGGCTTGGTTTGCTTTTAAAGACCTAGTGCTTCATATCCTACCGTTTGAGAGATGAGTAGATTTGGATGGTGATTTATAATGTTTCCTTTTAGGTGTCTGCTGTTTTATAAGTAAGCAGGAA... |
Task1_train_29266 | Gene PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Inborn genetic diseases | GATTCAGTAGAGTCACATGCTGTGCAGGGTTGTAGCCTAGGAGCAGTAGGCTCTACTATACAGCCTAGGTGTGCAGTGGGCTGTACCATCTAGGTTCGTGCATTACAGTATGGTGTTCACATGACAAAATCGCCTAGTGATGCAATTCTGAGAATATATCCCTGTTGTTAAGTGACGCGTGACTATTTTGGGGGCTTGGTTTGCTTTTAAAGACCTAGTGCTTCATATCCTACCGTTTGAGAGATGAGTAGATTTGGATGGTGATTTATAATGTTTCCTTTTAGGTGTCTGCTGTTTTATAAGTAAGCAGGAACCTCTAG... | GATTCAGTAGAGTCACATGCTGTGCAGGGTTGTAGCCTAGGAGCAGTAGGCTCTACTATACAGCCTAGGTGTGCAGTGGGCTGTACCATCTAGGTTCGTGCATTACAGTATGGTGTTCACATGACAAAATCGCCTAGTGATGCAATTCTGAGAATATATCCCTGTTGTTAAGTGACGCGTGACTATTTTGGGGGCTTGGTTTGCTTTTAAAGACCTAGTGCTTCATATCCTACCGTTTGAGAGATGAGTAGATTTGGATGGTGATTTATAATGTTTCCTTTTAGGTGTCTGCTGTTTTATAAGTAAGCAGGAACCTCTAG... |
Task1_train_29267 | This mutation occurs in PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Pyruvate dehydrogenase E1-alpha deficiency | GCTTCATATCCTACCGTTTGAGAGATGAGTAGATTTGGATGGTGATTTATAATGTTTCCTTTTAGGTGTCTGCTGTTTTATAAGTAAGCAGGAACCTCTAGCAGTGGAGCCATACCTTCCCCTTCCTATTTATATTTCAGTACATTAATTGCTTTATCTTGTCAACTTCATTTTGGGGTCCTTGTTCTCATCAGTTAGTGAATGATGAAGAATTAACAGCACAAAATTATATCCGGACTGTTTCTTTTCCTTTCTAATATATTAAGATTCTATTATGTGTTGTTTTTTTTTAAACCTAGGTTTTATTTTTCCTTTTGAAA... | GCTTCATATCCTACCGTTTGAGAGATGAGTAGATTTGGATGGTGATTTATAATGTTTCCTTTTAGGTGTCTGCTGTTTTATAAGTAAGCAGGAACCTCTAGCAGTGGAGCCATACCTTCCCCTTCCTATTTATATTTCAGTACATTAATTGCTTTATCTTGTCAACTTCATTTTGGGGTCCTTGTTCTCATCAGTTAGTGAATGATGAAGAATTAACAGCACAAAATTATATCCGGACTGTTTCTTTTCCTTTCTAATATATTAAGATTCTATTATGTGTTGTTTTTTTTTAAACCTAGGTTTTATTTTTCCTTTTGAAA... |
Task1_train_29268 | Here is a mutation in PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Pyruvate dehydrogenase E1-alpha deficiency | CGTTTGAGAGATGAGTAGATTTGGATGGTGATTTATAATGTTTCCTTTTAGGTGTCTGCTGTTTTATAAGTAAGCAGGAACCTCTAGCAGTGGAGCCATACCTTCCCCTTCCTATTTATATTTCAGTACATTAATTGCTTTATCTTGTCAACTTCATTTTGGGGTCCTTGTTCTCATCAGTTAGTGAATGATGAAGAATTAACAGCACAAAATTATATCCGGACTGTTTCTTTTCCTTTCTAATATATTAAGATTCTATTATGTGTTGTTTTTTTTTAAACCTAGGTTTTATTTTTCCTTTTGAAATGGAGTCTTGCTCA... | CGTTTGAGAGATGAGTAGATTTGGATGGTGATTTATAATGTTTCCTTTTAGGTGTCTGCTGTTTTATAAGTAAGCAGGAACCTCTAGCAGTGGAGCCATACCTTCCCCTTCCTATTTATATTTCAGTACATTAATTGCTTTATCTTGTCAACTTCATTTTGGGGTCCTTGTTCTCATCAGTTAGTGAATGATGAAGAATTAACAGCACAAAATTATATCCGGACTGTTTCTTTTCCTTTCTAATATATTAAGATTCTATTATGTGTTGTTTTTTTTTAAACCTAGGTTTTATTTTTCCTTTTGAAATGGAGTCTTGCTCA... |
Task1_train_29269 | This sequence change occurs on Chromosome X, altering PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Pyruvate dehydrogenase E1-alpha deficiency | GTTTGAGAGATGAGTAGATTTGGATGGTGATTTATAATGTTTCCTTTTAGGTGTCTGCTGTTTTATAAGTAAGCAGGAACCTCTAGCAGTGGAGCCATACCTTCCCCTTCCTATTTATATTTCAGTACATTAATTGCTTTATCTTGTCAACTTCATTTTGGGGTCCTTGTTCTCATCAGTTAGTGAATGATGAAGAATTAACAGCACAAAATTATATCCGGACTGTTTCTTTTCCTTTCTAATATATTAAGATTCTATTATGTGTTGTTTTTTTTTAAACCTAGGTTTTATTTTTCCTTTTGAAATGGAGTCTTGCTCAG... | GTTTGAGAGATGAGTAGATTTGGATGGTGATTTATAATGTTTCCTTTTAGGTGTCTGCTGTTTTATAAGTAAGCAGGAACCTCTAGCAGTGGAGCCATACCTTCCCCTTCCTATTTATATTTCAGTACATTAATTGCTTTATCTTGTCAACTTCATTTTGGGGTCCTTGTTCTCATCAGTTAGTGAATGATGAAGAATTAACAGCACAAAATTATATCCGGACTGTTTCTTTTCCTTTCTAATATATTAAGATTCTATTATGTGTTGTTTTTTTTTAAACCTAGGTTTTATTTTTCCTTTTGAAATGGAGTCTTGCTCAG... |
Task1_train_29270 | Here is a genetic alteration in PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Pyruvate dehydrogenase E1-alpha deficiency | ATGGTTTGGGGCAGTTGGATTCATGCTTCGCCCCTCCCCTGTTTATTACCAGGTGGATGGAATGGATATCCTGTGCGTCCGAGAGGCAACAAGGTTTGCTGCTGCCTATTGTAGATCTGGGAAGGTAAGGCTCTAAAGCCCTCTGGGCTAGTGACATTTATCTCTGGAAGTTCAAAGACTGCCTCCCATGTGCCTGCTGAAGCTGTTAGTGGGTACCTGCTAATTGAGGTGCATGAGATGGAAGCAGAGTGAAGGGAGCAGGGCTCCTTTGGGTAGCTTGGTCTTGGTAGCTCACCTGCTGGGAAGCCTACGTTTCTCTC... | ATGGTTTGGGGCAGTTGGATTCATGCTTCGCCCCTCCCCTGTTTATTACCAGGTGGATGGAATGGATATCCTGTGCGTCCGAGAGGCAACAAGGTTTGCTGCTGCCTATTGTAGATCTGGGAAGGTAAGGCTCTAAAGCCCTCTGGGCTAGTGACATTTATCTCTGGAAGTTCAAAGACTGCCTCCCATGTGCCTGCTGAAGCTGTTAGTGGGTACCTGCTAATTGAGGTGCATGAGATGGAAGCAGAGTGAAGGGAGCAGGGCTCCTTTGGGTAGCTTGGTCTTGGTAGCTCACCTGCTGGGAAGCCTACGTTTCTCTC... |
Task1_train_29271 | The following genetic variant occurs in PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Pyruvate dehydrogenase E1-alpha deficiency | TGGTTTGGGGCAGTTGGATTCATGCTTCGCCCCTCCCCTGTTTATTACCAGGTGGATGGAATGGATATCCTGTGCGTCCGAGAGGCAACAAGGTTTGCTGCTGCCTATTGTAGATCTGGGAAGGTAAGGCTCTAAAGCCCTCTGGGCTAGTGACATTTATCTCTGGAAGTTCAAAGACTGCCTCCCATGTGCCTGCTGAAGCTGTTAGTGGGTACCTGCTAATTGAGGTGCATGAGATGGAAGCAGAGTGAAGGGAGCAGGGCTCCTTTGGGTAGCTTGGTCTTGGTAGCTCACCTGCTGGGAAGCCTACGTTTCTCTCA... | TGGTTTGGGGCAGTTGGATTCATGCTTCGCCCCTCCCCTGTTTATTACCAGGTGGATGGAATGGATATCCTGTGCGTCCGAGAGGCAACAAGGTTTGCTGCTGCCTATTGTAGATCTGGGAAGGTAAGGCTCTAAAGCCCTCTGGGCTAGTGACATTTATCTCTGGAAGTTCAAAGACTGCCTCCCATGTGCCTGCTGAAGCTGTTAGTGGGTACCTGCTAATTGAGGTGCATGAGATGGAAGCAGAGTGAAGGGAGCAGGGCTCCTTTGGGTAGCTTGGTCTTGGTAGCTCACCTGCTGGGAAGCCTACGTTTCTCTCA... |
Task1_train_29272 | Given a variant located on Chromosome X and affecting PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Inborn genetic diseases | TCCTCAATGTTTCTCCACCCCAGTGTTCAGAGCCGTCTCCTGGAAGTGGGCTAGTGTAGAATGAGCGAGCCCAACTGTCCAGACTCCCAGCAGAGCCTTGGGGTTTGGGTAGCAGAGGTTGTTGGTGCCTGCCAACTTTGTTACACACTAGCAAGGTCTGTGAAGTAGGAGTGGCTGCCAGCCCCACAACACACCATGAGAAAGGAGCATGAGATGGAAATCTGTCTAGCCAATAGCAGGAGGCTCTAGAACATGCTCAGAGCCTTTTTCTTTTTTCACAGGGTCTCGCGCAGTGGCACACTCACAGCTCACTGCACCCT... | TCCTCAATGTTTCTCCACCCCAGTGTTCAGAGCCGTCTCCTGGAAGTGGGCTAGTGTAGAATGAGCGAGCCCAACTGTCCAGACTCCCAGCAGAGCCTTGGGGTTTGGGTAGCAGAGGTTGTTGGTGCCTGCCAACTTTGTTACACACTAGCAAGGTCTGTGAAGTAGGAGTGGCTGCCAGCCCCACAACACACCATGAGAAAGGAGCATGAGATGGAAATCTGTCTAGCCAATAGCAGGAGGCTCTAGAACATGCTCAGAGCCTTTTTCTTTTTTCACAGGGTCTCGCGCAGTGGCACACTCACAGCTCACTGCACCCT... |
Task1_train_29273 | The gene PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Pyruvate dehydrogenase E1-alpha deficiency | TCCTCAATGTTTCTCCACCCCAGTGTTCAGAGCCGTCTCCTGGAAGTGGGCTAGTGTAGAATGAGCGAGCCCAACTGTCCAGACTCCCAGCAGAGCCTTGGGGTTTGGGTAGCAGAGGTTGTTGGTGCCTGCCAACTTTGTTACACACTAGCAAGGTCTGTGAAGTAGGAGTGGCTGCCAGCCCCACAACACACCATGAGAAAGGAGCATGAGATGGAAATCTGTCTAGCCAATAGCAGGAGGCTCTAGAACATGCTCAGAGCCTTTTTCTTTTTTCACAGGGTCTCGCGCAGTGGCACACTCACAGCTCACTGCACCCT... | TCCTCAATGTTTCTCCACCCCAGTGTTCAGAGCCGTCTCCTGGAAGTGGGCTAGTGTAGAATGAGCGAGCCCAACTGTCCAGACTCCCAGCAGAGCCTTGGGGTTTGGGTAGCAGAGGTTGTTGGTGCCTGCCAACTTTGTTACACACTAGCAAGGTCTGTGAAGTAGGAGTGGCTGCCAGCCCCACAACACACCATGAGAAAGGAGCATGAGATGGAAATCTGTCTAGCCAATAGCAGGAGGCTCTAGAACATGCTCAGAGCCTTTTTCTTTTTTCACAGGGTCTCGCGCAGTGGCACACTCACAGCTCACTGCACCCT... |
Task1_train_29274 | Given this variant in gene PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; PDHA1-related disorder | TCCTCAATGTTTCTCCACCCCAGTGTTCAGAGCCGTCTCCTGGAAGTGGGCTAGTGTAGAATGAGCGAGCCCAACTGTCCAGACTCCCAGCAGAGCCTTGGGGTTTGGGTAGCAGAGGTTGTTGGTGCCTGCCAACTTTGTTACACACTAGCAAGGTCTGTGAAGTAGGAGTGGCTGCCAGCCCCACAACACACCATGAGAAAGGAGCATGAGATGGAAATCTGTCTAGCCAATAGCAGGAGGCTCTAGAACATGCTCAGAGCCTTTTTCTTTTTTCACAGGGTCTCGCGCAGTGGCACACTCACAGCTCACTGCACCCT... | TCCTCAATGTTTCTCCACCCCAGTGTTCAGAGCCGTCTCCTGGAAGTGGGCTAGTGTAGAATGAGCGAGCCCAACTGTCCAGACTCCCAGCAGAGCCTTGGGGTTTGGGTAGCAGAGGTTGTTGGTGCCTGCCAACTTTGTTACACACTAGCAAGGTCTGTGAAGTAGGAGTGGCTGCCAGCCCCACAACACACCATGAGAAAGGAGCATGAGATGGAAATCTGTCTAGCCAATAGCAGGAGGCTCTAGAACATGCTCAGAGCCTTTTTCTTTTTTCACAGGGTCTCGCGCAGTGGCACACTCACAGCTCACTGCACCCT... |
Task1_train_29275 | The gene PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Pyruvate dehydrogenase E1-alpha deficiency | CCTCAATGTTTCTCCACCCCAGTGTTCAGAGCCGTCTCCTGGAAGTGGGCTAGTGTAGAATGAGCGAGCCCAACTGTCCAGACTCCCAGCAGAGCCTTGGGGTTTGGGTAGCAGAGGTTGTTGGTGCCTGCCAACTTTGTTACACACTAGCAAGGTCTGTGAAGTAGGAGTGGCTGCCAGCCCCACAACACACCATGAGAAAGGAGCATGAGATGGAAATCTGTCTAGCCAATAGCAGGAGGCTCTAGAACATGCTCAGAGCCTTTTTCTTTTTTCACAGGGTCTCGCGCAGTGGCACACTCACAGCTCACTGCACCCTT... | CCTCAATGTTTCTCCACCCCAGTGTTCAGAGCCGTCTCCTGGAAGTGGGCTAGTGTAGAATGAGCGAGCCCAACTGTCCAGACTCCCAGCAGAGCCTTGGGGTTTGGGTAGCAGAGGTTGTTGGTGCCTGCCAACTTTGTTACACACTAGCAAGGTCTGTGAAGTAGGAGTGGCTGCCAGCCCCACAACACACCATGAGAAAGGAGCATGAGATGGAAATCTGTCTAGCCAATAGCAGGAGGCTCTAGAACATGCTCAGAGCCTTTTTCTTTTTTCACAGGGTCTCGCGCAGTGGCACACTCACAGCTCACTGCACCCTT... |
Task1_train_29276 | This alteration occurs within gene PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Pyruvate dehydrogenase E1-alpha deficiency | AGATCTGATAAGACTACACTGGACGCTTAATAAAGGGCCTGCGTTTGAGGCCGTGGATTGCCGGCCTGTTCTTCCAGTCATCGTTCCTAACTAACTAACTGCCTACCGGTTCTGTTTTAGGGGCCCATCCTGATGGAGCTGCAGACTTACCGTTACCACGGACACAGTATGAGTGACCCTGGAGTCAGGTACGCTCATGGGCAGTGTGGTTTCCATAGGGGTGGGCTTTGAATGGTGTTACATGGCAAAAGCAACACATTTCAGTATTTGCTTTTGGAGCTAGATACCAGTTCACTTCATGTACGCAGTTGTGTTGGGCA... | AGATCTGATAAGACTACACTGGACGCTTAATAAAGGGCCTGCGTTTGAGGCCGTGGATTGCCGGCCTGTTCTTCCAGTCATCGTTCCTAACTAACTAACTGCCTACCGGTTCTGTTTTAGGGGCCCATCCTGATGGAGCTGCAGACTTACCGTTACCACGGACACAGTATGAGTGACCCTGGAGTCAGGTACGCTCATGGGCAGTGTGGTTTCCATAGGGGTGGGCTTTGAATGGTGTTACATGGCAAAAGCAACACATTTCAGTATTTGCTTTTGGAGCTAGATACCAGTTCACTTCATGTACGCAGTTGTGTTGGGCA... |
Task1_train_29277 | This alteration in PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Pyruvate dehydrogenase complex deficiency | AAGGGCCTGCGTTTGAGGCCGTGGATTGCCGGCCTGTTCTTCCAGTCATCGTTCCTAACTAACTAACTGCCTACCGGTTCTGTTTTAGGGGCCCATCCTGATGGAGCTGCAGACTTACCGTTACCACGGACACAGTATGAGTGACCCTGGAGTCAGGTACGCTCATGGGCAGTGTGGTTTCCATAGGGGTGGGCTTTGAATGGTGTTACATGGCAAAAGCAACACATTTCAGTATTTGCTTTTGGAGCTAGATACCAGTTCACTTCATGTACGCAGTTGTGTTGGGCATCAAGTTATCTGAAAGCAGTGCCTCCTAATAA... | AAGGGCCTGCGTTTGAGGCCGTGGATTGCCGGCCTGTTCTTCCAGTCATCGTTCCTAACTAACTAACTGCCTACCGGTTCTGTTTTAGGGGCCCATCCTGATGGAGCTGCAGACTTACCGTTACCACGGACACAGTATGAGTGACCCTGGAGTCAGGTACGCTCATGGGCAGTGTGGTTTCCATAGGGGTGGGCTTTGAATGGTGTTACATGGCAAAAGCAACACATTTCAGTATTTGCTTTTGGAGCTAGATACCAGTTCACTTCATGTACGCAGTTGTGTTGGGCATCAAGTTATCTGAAAGCAGTGCCTCCTAATAA... |
Task1_train_29278 | A mutation in RPS6KA3 (ribosomal protein S6 kinase A3), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Coffin-Lowry syndrome | TATTTTGAAGTAAAAAACTTCATTTTTTTTTTAAAGAATTCTCTATGAAAAAAGTGAAAATAGAACAGAGTTGGAGAGCAAGTCAGTGCTATTCAGGGGATGGCAGATCTTCCAGTGAGAAGGGCTCTTCAAACGATTTCATGCAGATGCTATGAAACTATACATCTGTTTATCGTGAAAAAACCGAAACCCCTTTCTTCATAATCTGAATTAAAAATAGAACATGGTATAATTATTCTAGGGAATGAGGGCTGTGGAATCATATTTAGTTTGAAGCACCCATGTTTACCTGGTATGTAACATAGACAAGTTCAAACTAA... | TATTTTGAAGTAAAAAACTTCATTTTTTTTTTAAAGAATTCTCTATGAAAAAAGTGAAAATAGAACAGAGTTGGAGAGCAAGTCAGTGCTATTCAGGGGATGGCAGATCTTCCAGTGAGAAGGGCTCTTCAAACGATTTCATGCAGATGCTATGAAACTATACATCTGTTTATCGTGAAAAAACCGAAACCCCTTTCTTCATAATCTGAATTAAAAATAGAACATGGTATAATTATTCTAGGGAATGAGGGCTGTGGAATCATATTTAGTTTGAAGCACCCATGTTTACCTGGTATGTAACATAGACAAGTTCAAACTAA... |
Task1_train_29279 | Here’s a variant in RPS6KA3 (ribosomal protein S6 kinase A3) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Intellectual disability, X-linked 19 | TATTTTGAAGTAAAAAACTTCATTTTTTTTTTAAAGAATTCTCTATGAAAAAAGTGAAAATAGAACAGAGTTGGAGAGCAAGTCAGTGCTATTCAGGGGATGGCAGATCTTCCAGTGAGAAGGGCTCTTCAAACGATTTCATGCAGATGCTATGAAACTATACATCTGTTTATCGTGAAAAAACCGAAACCCCTTTCTTCATAATCTGAATTAAAAATAGAACATGGTATAATTATTCTAGGGAATGAGGGCTGTGGAATCATATTTAGTTTGAAGCACCCATGTTTACCTGGTATGTAACATAGACAAGTTCAAACTAA... | TATTTTGAAGTAAAAAACTTCATTTTTTTTTTAAAGAATTCTCTATGAAAAAAGTGAAAATAGAACAGAGTTGGAGAGCAAGTCAGTGCTATTCAGGGGATGGCAGATCTTCCAGTGAGAAGGGCTCTTCAAACGATTTCATGCAGATGCTATGAAACTATACATCTGTTTATCGTGAAAAAACCGAAACCCCTTTCTTCATAATCTGAATTAAAAATAGAACATGGTATAATTATTCTAGGGAATGAGGGCTGTGGAATCATATTTAGTTTGAAGCACCCATGTTTACCTGGTATGTAACATAGACAAGTTCAAACTAA... |
Task1_train_29280 | A variant affecting Chromosome X, within the gene RPS6KA3 (ribosomal protein S6 kinase A3), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Intellectual disability, X-linked 19 | ATACACTCACCCGGTAAGCATTGTATAGAGTAGGACACCAAGACTCCATATATCACAAGCAGCATCATAGCCTTGTCTTTTTAAAACCTAGAAAAAGTGCAAAATTAGTATTACTATACCACCATTTTGTATATATATTTGTAAGGCTATGAGTTGAATTATATATTCCAAATCAACACCTATAAGGAAAATTTCAACAGAACATGGTTACCAAATAAGGCAATACGTTAATCCGATTCTAGAACATTCTACTACTAATAATTCATAAATTTAATTTTGGTATTCAAATTAATATTTATTGAGTGCTGTAGGTACACAGG... | ATACACTCACCCGGTAAGCATTGTATAGAGTAGGACACCAAGACTCCATATATCACAAGCAGCATCATAGCCTTGTCTTTTTAAAACCTAGAAAAAGTGCAAAATTAGTATTACTATACCACCATTTTGTATATATATTTGTAAGGCTATGAGTTGAATTATATATTCCAAATCAACACCTATAAGGAAAATTTCAACAGAACATGGTTACCAAATAAGGCAATACGTTAATCCGATTCTAGAACATTCTACTACTAATAATTCATAAATTTAATTTTGGTATTCAAATTAATATTTATTGAGTGCTGTAGGTACACAGG... |
Task1_train_29281 | With a mutation on Chromosome X in gene RPS6KA3 (ribosomal protein S6 kinase A3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Coffin-Lowry syndrome | ATACACTCACCCGGTAAGCATTGTATAGAGTAGGACACCAAGACTCCATATATCACAAGCAGCATCATAGCCTTGTCTTTTTAAAACCTAGAAAAAGTGCAAAATTAGTATTACTATACCACCATTTTGTATATATATTTGTAAGGCTATGAGTTGAATTATATATTCCAAATCAACACCTATAAGGAAAATTTCAACAGAACATGGTTACCAAATAAGGCAATACGTTAATCCGATTCTAGAACATTCTACTACTAATAATTCATAAATTTAATTTTGGTATTCAAATTAATATTTATTGAGTGCTGTAGGTACACAGG... | ATACACTCACCCGGTAAGCATTGTATAGAGTAGGACACCAAGACTCCATATATCACAAGCAGCATCATAGCCTTGTCTTTTTAAAACCTAGAAAAAGTGCAAAATTAGTATTACTATACCACCATTTTGTATATATATTTGTAAGGCTATGAGTTGAATTATATATTCCAAATCAACACCTATAAGGAAAATTTCAACAGAACATGGTTACCAAATAAGGCAATACGTTAATCCGATTCTAGAACATTCTACTACTAATAATTCATAAATTTAATTTTGGTATTCAAATTAATATTTATTGAGTGCTGTAGGTACACAGG... |
Task1_train_29282 | This variant impacts the gene RPS6KA3 (ribosomal protein S6 kinase A3) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | CAAGCAGCATCATAGCCTTGTCTTTTTAAAACCTAGAAAAAGTGCAAAATTAGTATTACTATACCACCATTTTGTATATATATTTGTAAGGCTATGAGTTGAATTATATATTCCAAATCAACACCTATAAGGAAAATTTCAACAGAACATGGTTACCAAATAAGGCAATACGTTAATCCGATTCTAGAACATTCTACTACTAATAATTCATAAATTTAATTTTGGTATTCAAATTAATATTTATTGAGTGCTGTAGGTACACAGGAATATAAAACAAACTGAAGATAACTTTCTTATTTTAATGAATTTATATTTTGTTT... | CAAGCAGCATCATAGCCTTGTCTTTTTAAAACCTAGAAAAAGTGCAAAATTAGTATTACTATACCACCATTTTGTATATATATTTGTAAGGCTATGAGTTGAATTATATATTCCAAATCAACACCTATAAGGAAAATTTCAACAGAACATGGTTACCAAATAAGGCAATACGTTAATCCGATTCTAGAACATTCTACTACTAATAATTCATAAATTTAATTTTGGTATTCAAATTAATATTTATTGAGTGCTGTAGGTACACAGGAATATAAAACAAACTGAAGATAACTTTCTTATTTTAATGAATTTATATTTTGTTT... |
Task1_train_29283 | This alteration in RPS6KA3 (ribosomal protein S6 kinase A3) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Intellectual disability, X-linked 19 | GGTTTTCAAGTACCTTTGCAAATGAGAAGTTTGAAACCTATGGTATAGAAGGAAAGGATTTAGGAGGATTCAGAATTAGAATATCTGAATTCTTGTCTCAGGTACACCACTTACAGGCTATGTAACTTTGAGCCTGTATTTTCTCAGAGGGTAATGGTGAAGATTAAATAAAAATAATGTATTTGCAAGCAATACCTGTTATCGCCATTTTGGACTTTCAGTAGCCACTCCCTCCTTTCTTCACCCTGAAGTCATAGCCTTACACAACTTATGCTAAAGAAGCTCGTCATGGGTTAGGGACTAATAACACACAGTAGATG... | GGTTTTCAAGTACCTTTGCAAATGAGAAGTTTGAAACCTATGGTATAGAAGGAAAGGATTTAGGAGGATTCAGAATTAGAATATCTGAATTCTTGTCTCAGGTACACCACTTACAGGCTATGTAACTTTGAGCCTGTATTTTCTCAGAGGGTAATGGTGAAGATTAAATAAAAATAATGTATTTGCAAGCAATACCTGTTATCGCCATTTTGGACTTTCAGTAGCCACTCCCTCCTTTCTTCACCCTGAAGTCATAGCCTTACACAACTTATGCTAAAGAAGCTCGTCATGGGTTAGGGACTAATAACACACAGTAGATG... |
Task1_train_29284 | This mutation occurs in RPS6KA3 (ribosomal protein S6 kinase A3) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Coffin-Lowry syndrome | CCACCCGCTTTGGCCTCCCAAAGTGCTGGGATTACCTGCCTCTTTTTACTTTTTTAAATGTAGGTACTAGAAAACTTAAAATTACGTATGTGGTTCGCATTACTTTTCTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTTCACTCTGTTGCTCAGGTTGGAGTGTAGTGGTGTGATCAGGGCTCACTGCAGTCTTGACCTCCCAGGCTCAAGTGATCCTCTCACCTCAGCCTCCCAAGTGGCTGGGACTACTGGCACGTGCCACCACATCTGGCTAATTTTTTTATCTTTTATTTTTGTAGAGATGGGGTTTTG... | CCACCCGCTTTGGCCTCCCAAAGTGCTGGGATTACCTGCCTCTTTTTACTTTTTTAAATGTAGGTACTAGAAAACTTAAAATTACGTATGTGGTTCGCATTACTTTTCTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTTCACTCTGTTGCTCAGGTTGGAGTGTAGTGGTGTGATCAGGGCTCACTGCAGTCTTGACCTCCCAGGCTCAAGTGATCCTCTCACCTCAGCCTCCCAAGTGGCTGGGACTACTGGCACGTGCCACCACATCTGGCTAATTTTTTTATCTTTTATTTTTGTAGAGATGGGGTTTTG... |
Task1_train_29285 | This is a variant in RPS6KA3 (ribosomal protein S6 kinase A3), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Coffin-Lowry syndrome | TTCATATTCAAACCACGTAATATTGATGAATTTCTTAGTTATTTCTTATACTACAGCCAACACTCTAAAATCTCATTTTTTAGTGTGAAACATTTATTTTATTTTACTTTTTTGAGATAGAGTCTCGCTCTGTTGCCCAGGATGGAGTGCAGTGGTGTGATATCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGGGATTCTCCCACCTCAGCCTCCTGAGTACTGCTGAGACTACAGGTGTGTACCACCATGCCCGGCTAAGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAA... | TTCATATTCAAACCACGTAATATTGATGAATTTCTTAGTTATTTCTTATACTACAGCCAACACTCTAAAATCTCATTTTTTAGTGTGAAACATTTATTTTATTTTACTTTTTTGAGATAGAGTCTCGCTCTGTTGCCCAGGATGGAGTGCAGTGGTGTGATATCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGGGATTCTCCCACCTCAGCCTCCTGAGTACTGCTGAGACTACAGGTGTGTACCACCATGCCCGGCTAAGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAA... |
Task1_train_29286 | Here is a variant affecting RPS6KA3 (ribosomal protein S6 kinase A3) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Intellectual disability, X-linked 19 | TTCATATTCAAACCACGTAATATTGATGAATTTCTTAGTTATTTCTTATACTACAGCCAACACTCTAAAATCTCATTTTTTAGTGTGAAACATTTATTTTATTTTACTTTTTTGAGATAGAGTCTCGCTCTGTTGCCCAGGATGGAGTGCAGTGGTGTGATATCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGGGATTCTCCCACCTCAGCCTCCTGAGTACTGCTGAGACTACAGGTGTGTACCACCATGCCCGGCTAAGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAA... | TTCATATTCAAACCACGTAATATTGATGAATTTCTTAGTTATTTCTTATACTACAGCCAACACTCTAAAATCTCATTTTTTAGTGTGAAACATTTATTTTATTTTACTTTTTTGAGATAGAGTCTCGCTCTGTTGCCCAGGATGGAGTGCAGTGGTGTGATATCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGGGATTCTCCCACCTCAGCCTCCTGAGTACTGCTGAGACTACAGGTGTGTACCACCATGCCCGGCTAAGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAA... |
Task1_train_29287 | This sequence change occurs on Chromosome X, altering RPS6KA3 (ribosomal protein S6 kinase A3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Coffin-Lowry syndrome | TTTCTTAGTTATTTCTTATACTACAGCCAACACTCTAAAATCTCATTTTTTAGTGTGAAACATTTATTTTATTTTACTTTTTTGAGATAGAGTCTCGCTCTGTTGCCCAGGATGGAGTGCAGTGGTGTGATATCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGGGATTCTCCCACCTCAGCCTCCTGAGTACTGCTGAGACTACAGGTGTGTACCACCATGCCCGGCTAAGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGATCTCAAGTGATCCGTCTTCCTTG... | TTTCTTAGTTATTTCTTATACTACAGCCAACACTCTAAAATCTCATTTTTTAGTGTGAAACATTTATTTTATTTTACTTTTTTGAGATAGAGTCTCGCTCTGTTGCCCAGGATGGAGTGCAGTGGTGTGATATCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGGGATTCTCCCACCTCAGCCTCCTGAGTACTGCTGAGACTACAGGTGTGTACCACCATGCCCGGCTAAGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGATCTCAAGTGATCCGTCTTCCTTG... |
Task1_train_29288 | The gene RPS6KA3 (ribosomal protein S6 kinase A3) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Coffin-Lowry syndrome | AACTAATTAACACTCCCACCAACAGTGTAAAAGCGGTACTATTTCTCCACATCCTCTCCAGCATCTGTTGTTTCCTGACTTTTTAATGATCGCCATTCTAACTGGCGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTAATGACCAGGGATGATGAGCTTTTCTTTCATATGTTTGTTTGCCACATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATATCCGAGAGAAATATTCAAAATTCTTAATATGATGGTTGTACAACTCTGTGAATATACTAAAAATCAATGAATTATACACTTCTTTTTTTTTGA... | AACTAATTAACACTCCCACCAACAGTGTAAAAGCGGTACTATTTCTCCACATCCTCTCCAGCATCTGTTGTTTCCTGACTTTTTAATGATCGCCATTCTAACTGGCGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTAATGACCAGGGATGATGAGCTTTTCTTTCATATGTTTGTTTGCCACATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATATCCGAGAGAAATATTCAAAATTCTTAATATGATGGTTGTACAACTCTGTGAATATACTAAAAATCAATGAATTATACACTTCTTTTTTTTTGA... |
Task1_train_29289 | This mutation occurs in RPS6KA3 (ribosomal protein S6 kinase A3) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Intellectual disability, X-linked 19 | CCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAATTAGCTGGGTGTGTTGGCAGGCGCCCGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATTGCTTGAATCTGGGAGGTGGAGATTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTTTAAAAAAAAAAAATCAAAGAATGCACACAAAAACAGTATTTTTTGATTAACTGAGATTTTTAAAGTATGAAACTACAGTGTTAGCAGAGATGTGAAGCACAGGCACGCTAGTGCAATACTG... | CCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAATTAGCTGGGTGTGTTGGCAGGCGCCCGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATTGCTTGAATCTGGGAGGTGGAGATTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTTTAAAAAAAAAAAATCAAAGAATGCACACAAAAACAGTATTTTTTGATTAACTGAGATTTTTAAAGTATGAAACTACAGTGTTAGCAGAGATGTGAAGCACAGGCACGCTAGTGCAATACTG... |
Task1_train_29290 | A sequence alteration has been identified in RPS6KA3 (ribosomal protein S6 kinase A3) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Coffin-Lowry syndrome | CTGCAACCTCCGCCCCCCGTGTTTAAGCGATATTCCTGCCTCAGCCTCATGAGCAGCTGGGATTACAGACACCCAACACCATGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCATGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGCGAGCCACTGTGCCCGGCTGAGCTCAGGGGTATCATTACTTAATTTCCCATTGTTCTGTATGCCTGTTTTGTCATACAGCATGGCAGGTACTCAATATTTTTGTAACAAAT... | CTGCAACCTCCGCCCCCCGTGTTTAAGCGATATTCCTGCCTCAGCCTCATGAGCAGCTGGGATTACAGACACCCAACACCATGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCATGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGCGAGCCACTGTGCCCGGCTGAGCTCAGGGGTATCATTACTTAATTTCCCATTGTTCTGTATGCCTGTTTTGTCATACAGCATGGCAGGTACTCAATATTTTTGTAACAAAT... |
Task1_train_29291 | Located on Chromosome X, this mutation impacts RPS6KA3 (ribosomal protein S6 kinase A3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Coffin-Lowry syndrome | AGTGGGATAGGGGAGGTAGGGACTAGAAATATACATCAAGAACGCTTCCCAAGTTTCTAAATTGCTTAATGAGAGAAAAATGAAATAGAACAGTTTGAGGCTTAGGGAAAGATCATGAGTTTGGTCTCAGACATGTTGACTTTAAAGTGCTTTTAAGACATAGAAAAAGAGTAAGCAGCTGTGCATAAGAATTCAGAGCTTGGAGAAGCAATCTAGATTGGAGATATAAATGTGTTATGTCAGCTGTATGTGAGTTACAATTAAGATAGCAGGCACAGAGAAAATCAATTAGGAGAGTATTAGTAACAGAGAAGAAGGCA... | AGTGGGATAGGGGAGGTAGGGACTAGAAATATACATCAAGAACGCTTCCCAAGTTTCTAAATTGCTTAATGAGAGAAAAATGAAATAGAACAGTTTGAGGCTTAGGGAAAGATCATGAGTTTGGTCTCAGACATGTTGACTTTAAAGTGCTTTTAAGACATAGAAAAAGAGTAAGCAGCTGTGCATAAGAATTCAGAGCTTGGAGAAGCAATCTAGATTGGAGATATAAATGTGTTATGTCAGCTGTATGTGAGTTACAATTAAGATAGCAGGCACAGAGAAAATCAATTAGGAGAGTATTAGTAACAGAGAAGAAGGCA... |
Task1_train_29292 | This sequence variant lies in RPS6KA3 (ribosomal protein S6 kinase A3) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | GACTAGAAATATACATCAAGAACGCTTCCCAAGTTTCTAAATTGCTTAATGAGAGAAAAATGAAATAGAACAGTTTGAGGCTTAGGGAAAGATCATGAGTTTGGTCTCAGACATGTTGACTTTAAAGTGCTTTTAAGACATAGAAAAAGAGTAAGCAGCTGTGCATAAGAATTCAGAGCTTGGAGAAGCAATCTAGATTGGAGATATAAATGTGTTATGTCAGCTGTATGTGAGTTACAATTAAGATAGCAGGCACAGAGAAAATCAATTAGGAGAGTATTAGTAACAGAGAAGAAGGCAGCCTAGAATCGAACCTTGAA... | GACTAGAAATATACATCAAGAACGCTTCCCAAGTTTCTAAATTGCTTAATGAGAGAAAAATGAAATAGAACAGTTTGAGGCTTAGGGAAAGATCATGAGTTTGGTCTCAGACATGTTGACTTTAAAGTGCTTTTAAGACATAGAAAAAGAGTAAGCAGCTGTGCATAAGAATTCAGAGCTTGGAGAAGCAATCTAGATTGGAGATATAAATGTGTTATGTCAGCTGTATGTGAGTTACAATTAAGATAGCAGGCACAGAGAAAATCAATTAGGAGAGTATTAGTAACAGAGAAGAAGGCAGCCTAGAATCGAACCTTGAA... |
Task1_train_29293 | Here’s a variant in SMPX (small muscle protein X-linked) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | ACACAGCCAAGGCTACTGAATCAACCCCACTGCTGAGTAACACTGCGAGATCCTCTCTAAGCTCATTTTAAAACCGCATTCCTCTGAATCTTCAAAACCAAATTCTTCTGGAACTGGAACTGAGGTTAAATTTAGGTCAACATGGTTTTCATAAAAGTAAAAACCTTTAAAGTTTGCATTAAAAATTCGTGTGTCCAACTGAACAGCCTTGGTTGGGTGATGATAATAAATATTACCAAAAGTTAAGTTCCCCTCTCCAGGCTTTCTAACAAGGAAGTTCTGAAGTTTCATCCCTACCATATTGAAAGATTTCATCTCAA... | ACACAGCCAAGGCTACTGAATCAACCCCACTGCTGAGTAACACTGCGAGATCCTCTCTAAGCTCATTTTAAAACCGCATTCCTCTGAATCTTCAAAACCAAATTCTTCTGGAACTGGAACTGAGGTTAAATTTAGGTCAACATGGTTTTCATAAAAGTAAAAACCTTTAAAGTTTGCATTAAAAATTCGTGTGTCCAACTGAACAGCCTTGGTTGGGTGATGATAATAAATATTACCAAAAGTTAAGTTCCCCTCTCCAGGCTTTCTAACAAGGAAGTTCTGAAGTTTCATCCCTACCATATTGAAAGATTTCATCTCAA... |
Task1_train_29294 | Here is a mutation in SMPX (small muscle protein X-linked) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Myopathy, distal, 7, adult-onset, X-linked | GACAATAAGTTGTTACAAAAAAAAAAGGAAGAAAGACAAAAAACAGAAACATCCCTGGGGTCTTTGTGTCTTTGTGGATACATCACTACCTCCATCCTATGAAAAATACTAGTTGGCCATTTGTATACGTGGCTAATTATAAAGTAGGTGTTCACACACCAAGCTGTATCAGTTCTTGTCTATTTTAGAATGCACTGCAACCAACAGATTAGATACAAGGCAAGAGAGAGCAAAGTGCTTCCCCAGTCCCCTGAGATACTTGTGTGGAGGAAAGTACCAGTTGGACAAAGAAGAACCAGGGGCCATCTGTACCACAGGTG... | GACAATAAGTTGTTACAAAAAAAAAAGGAAGAAAGACAAAAAACAGAAACATCCCTGGGGTCTTTGTGTCTTTGTGGATACATCACTACCTCCATCCTATGAAAAATACTAGTTGGCCATTTGTATACGTGGCTAATTATAAAGTAGGTGTTCACACACCAAGCTGTATCAGTTCTTGTCTATTTTAGAATGCACTGCAACCAACAGATTAGATACAAGGCAAGAGAGAGCAAAGTGCTTCCCCAGTCCCCTGAGATACTTGTGTGGAGGAAAGTACCAGTTGGACAAAGAAGAACCAGGGGCCATCTGTACCACAGGTG... |
Task1_train_29295 | Gene SMPX (small muscle protein X-linked) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Myopathy, distal, 7, adult-onset, X-linked | TTAGTAAATAAAATACTAGTGAATTTTCAGTGTAGATTTGAGGGAGGCCAGGGACCATTAAGGAAGAAAAACCAACACACTTTCAGTTTTAAAAGGAAGAGGGAAAAAAGACAACCCGAGAGAAGACTGTTTTTGCATCCTGCAAAAATAAAAGAATTTTTATGTTTAGCACTTCTGGAGGTTCAAATGCAGTGATTAAATGATATTACTTCTCACAACTTTAACATAAAGTATTCCTGAATGATAATAATTCTAATAATGGTTGACACTCAATGCGTGCTTGCTATGCTGTTTTTTTGTTTGTTTGTTTGTTTTTTGGT... | TTAGTAAATAAAATACTAGTGAATTTTCAGTGTAGATTTGAGGGAGGCCAGGGACCATTAAGGAAGAAAAACCAACACACTTTCAGTTTTAAAAGGAAGAGGGAAAAAAGACAACCCGAGAGAAGACTGTTTTTGCATCCTGCAAAAATAAAAGAATTTTTATGTTTAGCACTTCTGGAGGTTCAAATGCAGTGATTAAATGATATTACTTCTCACAACTTTAACATAAAGTATTCCTGAATGATAATAATTCTAATAATGGTTGACACTCAATGCGTGCTTGCTATGCTGTTTTTTTGTTTGTTTGTTTGTTTTTTGGT... |
Task1_train_29296 | The gene SMPX (small muscle protein X-linked), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Myopathy, distal, 7, adult-onset, X-linked | TGAATTTTCAGTGTAGATTTGAGGGAGGCCAGGGACCATTAAGGAAGAAAAACCAACACACTTTCAGTTTTAAAAGGAAGAGGGAAAAAAGACAACCCGAGAGAAGACTGTTTTTGCATCCTGCAAAAATAAAAGAATTTTTATGTTTAGCACTTCTGGAGGTTCAAATGCAGTGATTAAATGATATTACTTCTCACAACTTTAACATAAAGTATTCCTGAATGATAATAATTCTAATAATGGTTGACACTCAATGCGTGCTTGCTATGCTGTTTTTTTGTTTGTTTGTTTGTTTTTTGGTTTTTTTTAAGACAGAGTCT... | TGAATTTTCAGTGTAGATTTGAGGGAGGCCAGGGACCATTAAGGAAGAAAAACCAACACACTTTCAGTTTTAAAAGGAAGAGGGAAAAAAGACAACCCGAGAGAAGACTGTTTTTGCATCCTGCAAAAATAAAAGAATTTTTATGTTTAGCACTTCTGGAGGTTCAAATGCAGTGATTAAATGATATTACTTCTCACAACTTTAACATAAAGTATTCCTGAATGATAATAATTCTAATAATGGTTGACACTCAATGCGTGCTTGCTATGCTGTTTTTTTGTTTGTTTGTTTGTTTTTTGGTTTTTTTTAAGACAGAGTCT... |
Task1_train_29297 | Gene MBTPS2 (membrane bound transcription factor peptidase, site 2) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; IFAP syndrome 1, with or without BRESHECK syndrome | TTCTCTCTTAGTCATCTGTCTATTTTAAACATTCTTATGAAGACTGGCTGGAAAACAACGGACTGAGCATCTCCCCTTTCCACATAAGATGGCAAACTGCTGTTTTCAATCGTGCCTTTTACAGTTGGGGACGGCGGAAAGCAAGGATGCTTTACCAATGGTATTCTTCATCTTCTTTTGTTTGGTTTAGGTTAATCATTAAGTGATCACGACAGACAGCTTGTTAAATTAACTATTTCCATTACTTTGCAGTTTTCTGAGTTTTAAAATATTGACAATATTAAAACTTTCTGGTTTTATATAACCTTATGGGATTGTAT... | TTCTCTCTTAGTCATCTGTCTATTTTAAACATTCTTATGAAGACTGGCTGGAAAACAACGGACTGAGCATCTCCCCTTTCCACATAAGATGGCAAACTGCTGTTTTCAATCGTGCCTTTTACAGTTGGGGACGGCGGAAAGCAAGGATGCTTTACCAATGGTATTCTTCATCTTCTTTTGTTTGGTTTAGGTTAATCATTAAGTGATCACGACAGACAGCTTGTTAAATTAACTATTTCCATTACTTTGCAGTTTTCTGAGTTTTAAAATATTGACAATATTAAAACTTTCTGGTTTTATATAACCTTATGGGATTGTAT... |
Task1_train_29298 | This gene mutation involves MBTPS2 (membrane bound transcription factor peptidase, site 2) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; IFAP syndrome 1, with or without BRESHECK syndrome | CTAAATGGAAAGTTCAGTTTGGTGATTAATTACAAAGTAAATATACAAAAATAAATGTAGTATTCCTGTGTATCTGAAAGAAACAGATCATGTAATAGGAAGAAAAGATCTCATTCAGAAAGTAATGTGACATATAAAAAATAAAAAACTAACATTTTAAAAGAAGTACACAGGGCCTATATAGAGAAACTACAAATCTGTACTGAGAGATGTAGAAGATTTCAGTAAACAGATGTCGTGTTCCTATGTCAGAAATGTAAAATTATGGATTTACCCCTAGTTATTGCAGTCATTGCAGTGACATTAGAAATCCTAATGTG... | CTAAATGGAAAGTTCAGTTTGGTGATTAATTACAAAGTAAATATACAAAAATAAATGTAGTATTCCTGTGTATCTGAAAGAAACAGATCATGTAATAGGAAGAAAAGATCTCATTCAGAAAGTAATGTGACATATAAAAAATAAAAAACTAACATTTTAAAAGAAGTACACAGGGCCTATATAGAGAAACTACAAATCTGTACTGAGAGATGTAGAAGATTTCAGTAAACAGATGTCGTGTTCCTATGTCAGAAATGTAAAATTATGGATTTACCCCTAGTTATTGCAGTCATTGCAGTGACATTAGAAATCCTAATGTG... |
Task1_train_29299 | Gene MBTPS2 (membrane bound transcription factor peptidase, site 2) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; IFAP syndrome 1, with or without BRESHECK syndrome | AATGGAAAGTTCAGTTTGGTGATTAATTACAAAGTAAATATACAAAAATAAATGTAGTATTCCTGTGTATCTGAAAGAAACAGATCATGTAATAGGAAGAAAAGATCTCATTCAGAAAGTAATGTGACATATAAAAAATAAAAAACTAACATTTTAAAAGAAGTACACAGGGCCTATATAGAGAAACTACAAATCTGTACTGAGAGATGTAGAAGATTTCAGTAAACAGATGTCGTGTTCCTATGTCAGAAATGTAAAATTATGGATTTACCCCTAGTTATTGCAGTCATTGCAGTGACATTAGAAATCCTAATGTGGGC... | AATGGAAAGTTCAGTTTGGTGATTAATTACAAAGTAAATATACAAAAATAAATGTAGTATTCCTGTGTATCTGAAAGAAACAGATCATGTAATAGGAAGAAAAGATCTCATTCAGAAAGTAATGTGACATATAAAAAATAAAAAACTAACATTTTAAAAGAAGTACACAGGGCCTATATAGAGAAACTACAAATCTGTACTGAGAGATGTAGAAGATTTCAGTAAACAGATGTCGTGTTCCTATGTCAGAAATGTAAAATTATGGATTTACCCCTAGTTATTGCAGTCATTGCAGTGACATTAGAAATCCTAATGTGGGC... |
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