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_22400 | Here is a variant affecting ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | ATTCGTTATTTGGTTTGCAGCTGCAGGTTGGGTGCAGCTGGCAGACAGGCAGGCAGGGAGGAACTGAATTTGCTGAACACCCAACTGTATGTGCCAGGCTTTTCACACAGTGTCTCATTCATTGCAGAGTGAGCATTCGCGTCATTCATCAGTTAGTGGTGAGAACATCCAAGGCTCGGGGGATTCAGCAGCTGTCCTGAGTGCCACAGTAAGTGATAGAGCCTGGATTTAAACCCATCTTTGCTTGACTCTAAAGCTTGAGACAGAAACAGCCCATCCTCGGAGTCAAGTGAACTTAGAGAAGACCTAGGACAATTGTC... | ATTCGTTATTTGGTTTGCAGCTGCAGGTTGGGTGCAGCTGGCAGACAGGCAGGCAGGGAGGAACTGAATTTGCTGAACACCCAACTGTATGTGCCAGGCTTTTCACACAGTGTCTCATTCATTGCAGAGTGAGCATTCGCGTCATTCATCAGTTAGTGGTGAGAACATCCAAGGCTCGGGGGATTCAGCAGCTGTCCTGAGTGCCACAGTAAGTGATAGAGCCTGGATTTAAACCCATCTTTGCTTGACTCTAAAGCTTGAGACAGAAACAGCCCATCCTCGGAGTCAAGTGAACTTAGAGAAGACCTAGGACAATTGTC... |
Task1_train_22401 | Given this variant in gene ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | ACACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGCTGATCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTATCTGGCCTGGAGCTGAATTTTTTATTCTTTGTATTCGAGAGTCATAACCAATTTCTCTCTCTCAGCTCCCATCTCTCCATCTTTAGGGGAGAGTAAGACTTGCCCTTAGCTATCAAATGAGGGATGGAAGTGGAAGGATTTTGAAAGGGCTATTTGCCACCCAAATGAGGATTTGGG... | ACACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGCTGATCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTATCTGGCCTGGAGCTGAATTTTTTATTCTTTGTATTCGAGAGTCATAACCAATTTCTCTCTCTCAGCTCCCATCTCTCCATCTTTAGGGGAGAGTAAGACTTGCCCTTAGCTATCAAATGAGGGATGGAAGTGGAAGGATTTTGAAAGGGCTATTTGCCACCCAAATGAGGATTTGGG... |
Task1_train_22402 | A variant found in Chromosome 16 affects ABCC6 (ATP binding cassette subfamily C member 6). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | CATAGCCAGCCTGTCAAAGCATAAGTGGCCAGGCCTGGCATGGTGGTTTACAGCTATGGGGAGGAACCAGTCCTGCCCTACTGCAGCATTCAGACAACTCCAGCAAGCTGGCCTCGGCCCACTTGAAGACATCCATCAATTGGAAGGCATATTGTTCATTCCATGAACTGGCCTTATAGGGGCCTAATCATCTTGGCTAACTGGACCAATTTTGGTAAATTATCCCTCAGCAGGGCACCATGGGGGGGACTTCAGCAGGTTCTCTATCCATAATGGTTTTGGTTGCCCGCCTAACTGCCCGAGATGCGGGTGGTCCCTTC... | CATAGCCAGCCTGTCAAAGCATAAGTGGCCAGGCCTGGCATGGTGGTTTACAGCTATGGGGAGGAACCAGTCCTGCCCTACTGCAGCATTCAGACAACTCCAGCAAGCTGGCCTCGGCCCACTTGAAGACATCCATCAATTGGAAGGCATATTGTTCATTCCATGAACTGGCCTTATAGGGGCCTAATCATCTTGGCTAACTGGACCAATTTTGGTAAATTATCCCTCAGCAGGGCACCATGGGGGGGACTTCAGCAGGTTCTCTATCCATAATGGTTTTGGTTGCCCGCCTAACTGCCCGAGATGCGGGTGGTCCCTTC... |
Task1_train_22403 | Here is a genetic alteration in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | GGCCAGGCCTGGCATGGTGGTTTACAGCTATGGGGAGGAACCAGTCCTGCCCTACTGCAGCATTCAGACAACTCCAGCAAGCTGGCCTCGGCCCACTTGAAGACATCCATCAATTGGAAGGCATATTGTTCATTCCATGAACTGGCCTTATAGGGGCCTAATCATCTTGGCTAACTGGACCAATTTTGGTAAATTATCCCTCAGCAGGGCACCATGGGGGGGACTTCAGCAGGTTCTCTATCCATAATGGTTTTGGTTGCCCGCCTAACTGCCCGAGATGCGGGTGGTCCCTTCAGCTACTTCAGCTTCAGCCTGTGCCC... | GGCCAGGCCTGGCATGGTGGTTTACAGCTATGGGGAGGAACCAGTCCTGCCCTACTGCAGCATTCAGACAACTCCAGCAAGCTGGCCTCGGCCCACTTGAAGACATCCATCAATTGGAAGGCATATTGTTCATTCCATGAACTGGCCTTATAGGGGCCTAATCATCTTGGCTAACTGGACCAATTTTGGTAAATTATCCCTCAGCAGGGCACCATGGGGGGGACTTCAGCAGGTTCTCTATCCATAATGGTTTTGGTTGCCCGCCTAACTGCCCGAGATGCGGGTGGTCCCTTCAGCTACTTCAGCTTCAGCCTGTGCCC... |
Task1_train_22404 | Chromosome 16 houses a mutation in gene ABCC6 (ATP binding cassette subfamily C member 6). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | GGCCAGGCCTGGCATGGTGGTTTACAGCTATGGGGAGGAACCAGTCCTGCCCTACTGCAGCATTCAGACAACTCCAGCAAGCTGGCCTCGGCCCACTTGAAGACATCCATCAATTGGAAGGCATATTGTTCATTCCATGAACTGGCCTTATAGGGGCCTAATCATCTTGGCTAACTGGACCAATTTTGGTAAATTATCCCTCAGCAGGGCACCATGGGGGGGACTTCAGCAGGTTCTCTATCCATAATGGTTTTGGTTGCCCGCCTAACTGCCCGAGATGCGGGTGGTCCCTTCAGCTACTTCAGCTTCAGCCTGTGCCC... | GGCCAGGCCTGGCATGGTGGTTTACAGCTATGGGGAGGAACCAGTCCTGCCCTACTGCAGCATTCAGACAACTCCAGCAAGCTGGCCTCGGCCCACTTGAAGACATCCATCAATTGGAAGGCATATTGTTCATTCCATGAACTGGCCTTATAGGGGCCTAATCATCTTGGCTAACTGGACCAATTTTGGTAAATTATCCCTCAGCAGGGCACCATGGGGGGGACTTCAGCAGGTTCTCTATCCATAATGGTTTTGGTTGCCCGCCTAACTGCCCGAGATGCGGGTGGTCCCTTCAGCTACTTCAGCTTCAGCCTGTGCCC... |
Task1_train_22405 | The following genetic variant occurs in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Pseudoxanthoma elasticum, forme fruste | GGCCAGGCCTGGCATGGTGGTTTACAGCTATGGGGAGGAACCAGTCCTGCCCTACTGCAGCATTCAGACAACTCCAGCAAGCTGGCCTCGGCCCACTTGAAGACATCCATCAATTGGAAGGCATATTGTTCATTCCATGAACTGGCCTTATAGGGGCCTAATCATCTTGGCTAACTGGACCAATTTTGGTAAATTATCCCTCAGCAGGGCACCATGGGGGGGACTTCAGCAGGTTCTCTATCCATAATGGTTTTGGTTGCCCGCCTAACTGCCCGAGATGCGGGTGGTCCCTTCAGCTACTTCAGCTTCAGCCTGTGCCC... | GGCCAGGCCTGGCATGGTGGTTTACAGCTATGGGGAGGAACCAGTCCTGCCCTACTGCAGCATTCAGACAACTCCAGCAAGCTGGCCTCGGCCCACTTGAAGACATCCATCAATTGGAAGGCATATTGTTCATTCCATGAACTGGCCTTATAGGGGCCTAATCATCTTGGCTAACTGGACCAATTTTGGTAAATTATCCCTCAGCAGGGCACCATGGGGGGGACTTCAGCAGGTTCTCTATCCATAATGGTTTTGGTTGCCCGCCTAACTGCCCGAGATGCGGGTGGTCCCTTCAGCTACTTCAGCTTCAGCCTGTGCCC... |
Task1_train_22406 | The gene ABCC6 (ATP binding cassette subfamily C member 6), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Arterial calcification, generalized, of infancy, 2 | GGCCAGGCCTGGCATGGTGGTTTACAGCTATGGGGAGGAACCAGTCCTGCCCTACTGCAGCATTCAGACAACTCCAGCAAGCTGGCCTCGGCCCACTTGAAGACATCCATCAATTGGAAGGCATATTGTTCATTCCATGAACTGGCCTTATAGGGGCCTAATCATCTTGGCTAACTGGACCAATTTTGGTAAATTATCCCTCAGCAGGGCACCATGGGGGGGACTTCAGCAGGTTCTCTATCCATAATGGTTTTGGTTGCCCGCCTAACTGCCCGAGATGCGGGTGGTCCCTTCAGCTACTTCAGCTTCAGCCTGTGCCC... | GGCCAGGCCTGGCATGGTGGTTTACAGCTATGGGGAGGAACCAGTCCTGCCCTACTGCAGCATTCAGACAACTCCAGCAAGCTGGCCTCGGCCCACTTGAAGACATCCATCAATTGGAAGGCATATTGTTCATTCCATGAACTGGCCTTATAGGGGCCTAATCATCTTGGCTAACTGGACCAATTTTGGTAAATTATCCCTCAGCAGGGCACCATGGGGGGGACTTCAGCAGGTTCTCTATCCATAATGGTTTTGGTTGCCCGCCTAACTGCCCGAGATGCGGGTGGTCCCTTCAGCTACTTCAGCTTCAGCCTGTGCCC... |
Task1_train_22407 | A variant affecting Chromosome 16, within the gene ABCC6 (ATP binding cassette subfamily C member 6), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | GGCCAGGCCTGGCATGGTGGTTTACAGCTATGGGGAGGAACCAGTCCTGCCCTACTGCAGCATTCAGACAACTCCAGCAAGCTGGCCTCGGCCCACTTGAAGACATCCATCAATTGGAAGGCATATTGTTCATTCCATGAACTGGCCTTATAGGGGCCTAATCATCTTGGCTAACTGGACCAATTTTGGTAAATTATCCCTCAGCAGGGCACCATGGGGGGGACTTCAGCAGGTTCTCTATCCATAATGGTTTTGGTTGCCCGCCTAACTGCCCGAGATGCGGGTGGTCCCTTCAGCTACTTCAGCTTCAGCCTGTGCCC... | GGCCAGGCCTGGCATGGTGGTTTACAGCTATGGGGAGGAACCAGTCCTGCCCTACTGCAGCATTCAGACAACTCCAGCAAGCTGGCCTCGGCCCACTTGAAGACATCCATCAATTGGAAGGCATATTGTTCATTCCATGAACTGGCCTTATAGGGGCCTAATCATCTTGGCTAACTGGACCAATTTTGGTAAATTATCCCTCAGCAGGGCACCATGGGGGGGACTTCAGCAGGTTCTCTATCCATAATGGTTTTGGTTGCCCGCCTAACTGCCCGAGATGCGGGTGGTCCCTTCAGCTACTTCAGCTTCAGCCTGTGCCC... |
Task1_train_22408 | Here is a variant affecting ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | TGGGCCTCAGTTTCCTCATCTGTGAAATGGAAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTG... | TGGGCCTCAGTTTCCTCATCTGTGAAATGGAAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTG... |
Task1_train_22409 | Gene ABCC6 (ATP binding cassette subfamily C member 6), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | AAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGT... | AAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGT... |
Task1_train_22410 | A variant has been detected on Chromosome 16 in ABCC6 (ATP binding cassette subfamily C member 6). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Pseudoxanthoma elasticum, forme fruste | AAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGT... | AAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGT... |
Task1_train_22411 | Gene ABCC6 (ATP binding cassette subfamily C member 6), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Arterial calcification, generalized, of infancy, 2 | AAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGT... | AAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGT... |
Task1_train_22412 | A mutation in ABCC6 (ATP binding cassette subfamily C member 6), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | TATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTC... | TATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTC... |
Task1_train_22413 | This variant affects the gene ABCC6 (ATP binding cassette subfamily C member 6) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | GTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACA... | GTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACA... |
Task1_train_22414 | Given this variant in gene ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | GTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACA... | GTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACA... |
Task1_train_22415 | A genetic alteration is present in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Pseudoxanthoma elasticum, forme fruste | GTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACA... | GTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACA... |
Task1_train_22416 | Consider this mutation in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; Arterial calcification, generalized, of infancy, 2 | GTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACA... | GTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACA... |
Task1_train_22417 | A variant was discovered on Chromosome 16, affecting ABCC6 (ATP binding cassette subfamily C member 6). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | TTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACAT... | TTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACAT... |
Task1_train_22418 | Here is a mutation in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | TAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATG... | TAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATG... |
Task1_train_22419 | This mutation is located in gene ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Pseudoxanthoma elasticum, forme fruste | TAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATG... | TAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATG... |
Task1_train_22420 | This alteration occurs within gene ABCC6 (ATP binding cassette subfamily C member 6) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Arterial calcification, generalized, of infancy, 2 | TAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATG... | TAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATG... |
Task1_train_22421 | A mutation on Chromosome 16 affecting ABCC6 (ATP binding cassette subfamily C member 6) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | TAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCC... | TAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCC... |
Task1_train_22422 | This alteration occurs within gene ABCC6 (ATP binding cassette subfamily C member 6) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | AGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTC... | AGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTC... |
Task1_train_22423 | This mutation occurs in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | ACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAGGCAGACAGCACATCAGGTGGAAAGTGCTATGAAGAATAAATAGTAAAGCAGGGGGAGCCAGGTTCAGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGCTGGGTGGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTAC... | ACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAGGCAGACAGCACATCAGGTGGAAAGTGCTATGAAGAATAAATAGTAAAGCAGGGGGAGCCAGGTTCAGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGCTGGGTGGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTAC... |
Task1_train_22424 | This gene mutation involves ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Is it associated with any clinical condition, or is it benign? | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | TTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAGGCAGACAGCACATCAGGTGGAAAGTGCTATGAAGAATAAATAGTAAAGCAGGGGGAGCCAGGTTCAGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGCTGGGTGGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAA... | TTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAGGCAGACAGCACATCAGGTGGAAAGTGCTATGAAGAATAAATAGTAAAGCAGGGGGAGCCAGGTTCAGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGCTGGGTGGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAA... |
Task1_train_22425 | Consider this mutation in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | GAAGAAATCTCTCCCACTGAACAAATTGCCCTGCTACTCACTGGCTTGTGGGTGACCCCGCAGGGTTCTTGTTCTGTCCGTGTCCCATGGCTACATAATCCAGGGGGAGGCAAACTGTGGCCCAGAGACCAAATCCTGCCTGCTGCCTTTTCTTATAAATAAAGTTTTATTGGAACACGGCCACATCCATTCATTTCTCTATTTCATGCTTTGAGCAGTTGTGACAGAGACTGTGTGGCCCACAGGCCTAAAATATGCACAATCTGGTCATTTATGGAAAAAGTTAGTGAATTTCTGAAATAAATTATCATCAAATCCCA... | GAAGAAATCTCTCCCACTGAACAAATTGCCCTGCTACTCACTGGCTTGTGGGTGACCCCGCAGGGTTCTTGTTCTGTCCGTGTCCCATGGCTACATAATCCAGGGGGAGGCAAACTGTGGCCCAGAGACCAAATCCTGCCTGCTGCCTTTTCTTATAAATAAAGTTTTATTGGAACACGGCCACATCCATTCATTTCTCTATTTCATGCTTTGAGCAGTTGTGACAGAGACTGTGTGGCCCACAGGCCTAAAATATGCACAATCTGGTCATTTATGGAAAAAGTTAGTGAATTTCTGAAATAAATTATCATCAAATCCCA... |
Task1_train_22426 | Consider this mutation in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | AAGAAATCTCTCCCACTGAACAAATTGCCCTGCTACTCACTGGCTTGTGGGTGACCCCGCAGGGTTCTTGTTCTGTCCGTGTCCCATGGCTACATAATCCAGGGGGAGGCAAACTGTGGCCCAGAGACCAAATCCTGCCTGCTGCCTTTTCTTATAAATAAAGTTTTATTGGAACACGGCCACATCCATTCATTTCTCTATTTCATGCTTTGAGCAGTTGTGACAGAGACTGTGTGGCCCACAGGCCTAAAATATGCACAATCTGGTCATTTATGGAAAAAGTTAGTGAATTTCTGAAATAAATTATCATCAAATCCCAG... | AAGAAATCTCTCCCACTGAACAAATTGCCCTGCTACTCACTGGCTTGTGGGTGACCCCGCAGGGTTCTTGTTCTGTCCGTGTCCCATGGCTACATAATCCAGGGGGAGGCAAACTGTGGCCCAGAGACCAAATCCTGCCTGCTGCCTTTTCTTATAAATAAAGTTTTATTGGAACACGGCCACATCCATTCATTTCTCTATTTCATGCTTTGAGCAGTTGTGACAGAGACTGTGTGGCCCACAGGCCTAAAATATGCACAATCTGGTCATTTATGGAAAAAGTTAGTGAATTTCTGAAATAAATTATCATCAAATCCCAG... |
Task1_train_22427 | An alteration has been detected in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Pseudoxanthoma elasticum, forme fruste | AAGAAATCTCTCCCACTGAACAAATTGCCCTGCTACTCACTGGCTTGTGGGTGACCCCGCAGGGTTCTTGTTCTGTCCGTGTCCCATGGCTACATAATCCAGGGGGAGGCAAACTGTGGCCCAGAGACCAAATCCTGCCTGCTGCCTTTTCTTATAAATAAAGTTTTATTGGAACACGGCCACATCCATTCATTTCTCTATTTCATGCTTTGAGCAGTTGTGACAGAGACTGTGTGGCCCACAGGCCTAAAATATGCACAATCTGGTCATTTATGGAAAAAGTTAGTGAATTTCTGAAATAAATTATCATCAAATCCCAG... | AAGAAATCTCTCCCACTGAACAAATTGCCCTGCTACTCACTGGCTTGTGGGTGACCCCGCAGGGTTCTTGTTCTGTCCGTGTCCCATGGCTACATAATCCAGGGGGAGGCAAACTGTGGCCCAGAGACCAAATCCTGCCTGCTGCCTTTTCTTATAAATAAAGTTTTATTGGAACACGGCCACATCCATTCATTTCTCTATTTCATGCTTTGAGCAGTTGTGACAGAGACTGTGTGGCCCACAGGCCTAAAATATGCACAATCTGGTCATTTATGGAAAAAGTTAGTGAATTTCTGAAATAAATTATCATCAAATCCCAG... |
Task1_train_22428 | Assess the clinical impact of this variant on gene ABCC6 (ATP binding cassette subfamily C member 6), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Arterial calcification, generalized, of infancy, 2 | AAGAAATCTCTCCCACTGAACAAATTGCCCTGCTACTCACTGGCTTGTGGGTGACCCCGCAGGGTTCTTGTTCTGTCCGTGTCCCATGGCTACATAATCCAGGGGGAGGCAAACTGTGGCCCAGAGACCAAATCCTGCCTGCTGCCTTTTCTTATAAATAAAGTTTTATTGGAACACGGCCACATCCATTCATTTCTCTATTTCATGCTTTGAGCAGTTGTGACAGAGACTGTGTGGCCCACAGGCCTAAAATATGCACAATCTGGTCATTTATGGAAAAAGTTAGTGAATTTCTGAAATAAATTATCATCAAATCCCAG... | AAGAAATCTCTCCCACTGAACAAATTGCCCTGCTACTCACTGGCTTGTGGGTGACCCCGCAGGGTTCTTGTTCTGTCCGTGTCCCATGGCTACATAATCCAGGGGGAGGCAAACTGTGGCCCAGAGACCAAATCCTGCCTGCTGCCTTTTCTTATAAATAAAGTTTTATTGGAACACGGCCACATCCATTCATTTCTCTATTTCATGCTTTGAGCAGTTGTGACAGAGACTGTGTGGCCCACAGGCCTAAAATATGCACAATCTGGTCATTTATGGAAAAAGTTAGTGAATTTCTGAAATAAATTATCATCAAATCCCAG... |
Task1_train_22429 | This mutation occurs in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | GCTGGGCATGGTTGTGCATGCCTGTGGTCCCAGCTACTTGGCAGGCTGGGGCAGGAGAATCACTTGAATCTGCGAGGTAGATCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAATAAATAAATAAATAAAAATAAAAAATAAAAAACATGGAGATGGCTCAGGTATGCCGCCGTTTCTTGTTTTCACCATGCTGAAAGGACTAGAGATAGCAAAGGAAGAGAAACAAAATCGCTTTGTATAAAAAAGGGAACTGACATGATTGCTTGTATGTGGAATTGCTGGGC... | GCTGGGCATGGTTGTGCATGCCTGTGGTCCCAGCTACTTGGCAGGCTGGGGCAGGAGAATCACTTGAATCTGCGAGGTAGATCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAATAAATAAATAAATAAAAATAAAAAATAAAAAACATGGAGATGGCTCAGGTATGCCGCCGTTTCTTGTTTTCACCATGCTGAAAGGACTAGAGATAGCAAAGGAAGAGAAACAAAATCGCTTTGTATAAAAAAGGGAACTGACATGATTGCTTGTATGTGGAATTGCTGGGC... |
Task1_train_22430 | This variant lies on Chromosome 16 and affects the gene ABCC6 (ATP binding cassette subfamily C member 6). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; ABCC6-related disorder | CTGTGGTCCCAGCTACTTGGCAGGCTGGGGCAGGAGAATCACTTGAATCTGCGAGGTAGATCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAATAAATAAATAAATAAAAATAAAAAATAAAAAACATGGAGATGGCTCAGGTATGCCGCCGTTTCTTGTTTTCACCATGCTGAAAGGACTAGAGATAGCAAAGGAAGAGAAACAAAATCGCTTTGTATAAAAAAGGGAACTGACATGATTGCTTGTATGTGGAATTGCTGGGCAGATGGACAAGTATGCATGTT... | CTGTGGTCCCAGCTACTTGGCAGGCTGGGGCAGGAGAATCACTTGAATCTGCGAGGTAGATCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAATAAATAAATAAATAAAAATAAAAAATAAAAAACATGGAGATGGCTCAGGTATGCCGCCGTTTCTTGTTTTCACCATGCTGAAAGGACTAGAGATAGCAAAGGAAGAGAAACAAAATCGCTTTGTATAAAAAAGGGAACTGACATGATTGCTTGTATGTGGAATTGCTGGGCAGATGGACAAGTATGCATGTT... |
Task1_train_22431 | Here is a genetic alteration in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | ATAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAAGTTGTGCCATTGCACCAAAGCCTGGGCAACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAATCAAAAGGATACTATTTCACGACATATGAAAATGATATGCACTTCAAATGTCAGCATCCATAAATAGAGTTTTATTGGAGGAATACCATGCCTGTTTGCTTAGTATGGTCTACAGCCACTTCTGCACTCCAAGGGCAGAGATGAATATTTGCAGGAGAGATGGTGTGGCCTCCAGTGTAAAAAGCATCTACTGTCTTATCCTTTATGGAAAAG... | ATAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAAGTTGTGCCATTGCACCAAAGCCTGGGCAACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAATCAAAAGGATACTATTTCACGACATATGAAAATGATATGCACTTCAAATGTCAGCATCCATAAATAGAGTTTTATTGGAGGAATACCATGCCTGTTTGCTTAGTATGGTCTACAGCCACTTCTGCACTCCAAGGGCAGAGATGAATATTTGCAGGAGAGATGGTGTGGCCTCCAGTGTAAAAAGCATCTACTGTCTTATCCTTTATGGAAAAG... |
Task1_train_22432 | Gene ABCC6 (ATP binding cassette subfamily C member 6), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | AGAAGTGGTGCCTAGACAGTGAGAACAGCTGCAAAGGCCCCAGGGTGGGTGGGGGCCTGGAGTGTTTGAGGAACTGAAAGGAGACCTGTGTGGCTGGAGGAGAGTGAGCATGGGAGGAGGTGACGGGATGAGGTCAGAGACACCCTAGGGACAGATCACACAAGACCTTACAGGAATAACTAAGGAGCTGAGACAGATCACTTGAGGCTAGGAGTTCGAGACCAGCCTGACCAACATGGCAAAACCTTGTCTCTACCAAAAATATAAAAATTAGCTGGGCGTGGTGACACGTGTCTATAGTCCCAGTTACTCAGGAGGCT... | AGAAGTGGTGCCTAGACAGTGAGAACAGCTGCAAAGGCCCCAGGGTGGGTGGGGGCCTGGAGTGTTTGAGGAACTGAAAGGAGACCTGTGTGGCTGGAGGAGAGTGAGCATGGGAGGAGGTGACGGGATGAGGTCAGAGACACCCTAGGGACAGATCACACAAGACCTTACAGGAATAACTAAGGAGCTGAGACAGATCACTTGAGGCTAGGAGTTCGAGACCAGCCTGACCAACATGGCAAAACCTTGTCTCTACCAAAAATATAAAAATTAGCTGGGCGTGGTGACACGTGTCTATAGTCCCAGTTACTCAGGAGGCT... |
Task1_train_22433 | Here is a genetic alteration in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | AGAAGTGGTGCCTAGACAGTGAGAACAGCTGCAAAGGCCCCAGGGTGGGTGGGGGCCTGGAGTGTTTGAGGAACTGAAAGGAGACCTGTGTGGCTGGAGGAGAGTGAGCATGGGAGGAGGTGACGGGATGAGGTCAGAGACACCCTAGGGACAGATCACACAAGACCTTACAGGAATAACTAAGGAGCTGAGACAGATCACTTGAGGCTAGGAGTTCGAGACCAGCCTGACCAACATGGCAAAACCTTGTCTCTACCAAAAATATAAAAATTAGCTGGGCGTGGTGACACGTGTCTATAGTCCCAGTTACTCAGGAGGCT... | AGAAGTGGTGCCTAGACAGTGAGAACAGCTGCAAAGGCCCCAGGGTGGGTGGGGGCCTGGAGTGTTTGAGGAACTGAAAGGAGACCTGTGTGGCTGGAGGAGAGTGAGCATGGGAGGAGGTGACGGGATGAGGTCAGAGACACCCTAGGGACAGATCACACAAGACCTTACAGGAATAACTAAGGAGCTGAGACAGATCACTTGAGGCTAGGAGTTCGAGACCAGCCTGACCAACATGGCAAAACCTTGTCTCTACCAAAAATATAAAAATTAGCTGGGCGTGGTGACACGTGTCTATAGTCCCAGTTACTCAGGAGGCT... |
Task1_train_22434 | This variant affects the gene ABCC6 (ATP binding cassette subfamily C member 6) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | TTATTTTTTTGAGATGGAATCTCACTCTGTTGCTCAGGCTGGAGTGCACTGGTGTGATCTCGGCTCACCGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTGACTGGGATTGCAGGCTCCCACCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAAATCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAGGTGTTGGGATTATAGGCGTGAGCCACTGCGCCAGGCCACCAAGTTCCCTTTTCTAATGCAGAGCC... | TTATTTTTTTGAGATGGAATCTCACTCTGTTGCTCAGGCTGGAGTGCACTGGTGTGATCTCGGCTCACCGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTGACTGGGATTGCAGGCTCCCACCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAAATCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAGGTGTTGGGATTATAGGCGTGAGCCACTGCGCCAGGCCACCAAGTTCCCTTTTCTAATGCAGAGCC... |
Task1_train_22435 | An alteration has been detected in LOC102723692, XYLT1 (uncharacterized LOC102723692| xylosyltransferase 1) on Chromosome 16. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Desbuquois dysplasia 2 | GAGCACAGCTTAGCACTGTAGAGAGTTAGACCACCTGAATTCAAATCCTCATTTGGCTACCGTCTAGCTGTGCAGGTCAAGTTACTCAAACTCTCTGGGCCTCAGCATCCTTAAAATGGGTTACTAGCATAGTGTCTAGCACATAGTGTAGGCTGCTCTTTGATTATTATCACCAGCCCCTTGTTACCAGGAACCCATCTAGGGGCAGAACAAACTCCTTTCTCTGCCTGCGATTCCGACCATAGCTGGATCTTCTAACAAACAGGGCACGTTACCATATTATTCTTTCTCTCCAAGTTCTTCGCGCAAGAACTCTGAGT... | GAGCACAGCTTAGCACTGTAGAGAGTTAGACCACCTGAATTCAAATCCTCATTTGGCTACCGTCTAGCTGTGCAGGTCAAGTTACTCAAACTCTCTGGGCCTCAGCATCCTTAAAATGGGTTACTAGCATAGTGTCTAGCACATAGTGTAGGCTGCTCTTTGATTATTATCACCAGCCCCTTGTTACCAGGAACCCATCTAGGGGCAGAACAAACTCCTTTCTCTGCCTGCGATTCCGACCATAGCTGGATCTTCTAACAAACAGGGCACGTTACCATATTATTCTTTCTCTCCAAGTTCTTCGCGCAAGAACTCTGAGT... |
Task1_train_22436 | Here is a mutation in XYLT1 (xylosyltransferase 1) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Desbuquois dysplasia 2 | CTCCCTAAGGGAAGCTGTTGGGGAATCTGTGTCTGCCCGTTACAAGTTAATGGGCACAGCCTTCTGATTTCTTCTAAACCAGTCCTCTTGAAGTGGTCTGGGAGAAGGGAGGGAAGGCAGAGATGCAGGAGGTGGGACTGAACAGAGACCCTGGAGTATATGTGCTTGTGTGTGCTGGGGCCAGGGAGGGGCAGAGAAAGCACACACACGGAGCTTTGGTCACCAGTATCGTGGTGGGCGTCTTGATTAAAAATAGCCAAACTCCCAAACAATCTCTTCTAAATGGATGGGTGGGTAAATGAGGCTCCAGCCGCCACCCC... | CTCCCTAAGGGAAGCTGTTGGGGAATCTGTGTCTGCCCGTTACAAGTTAATGGGCACAGCCTTCTGATTTCTTCTAAACCAGTCCTCTTGAAGTGGTCTGGGAGAAGGGAGGGAAGGCAGAGATGCAGGAGGTGGGACTGAACAGAGACCCTGGAGTATATGTGCTTGTGTGTGCTGGGGCCAGGGAGGGGCAGAGAAAGCACACACACGGAGCTTTGGTCACCAGTATCGTGGTGGGCGTCTTGATTAAAAATAGCCAAACTCCCAAACAATCTCTTCTAAATGGATGGGTGGGTAAATGAGGCTCCAGCCGCCACCCC... |
Task1_train_22437 | A variant has been detected on Chromosome 16 in COQ7 (coenzyme Q7, hydroxylase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Primary coenzyme Q10 deficiency 8 | GATTTCGCAGTTCAGGAATGACTTTAGACAATATCAGTCGGGCAGCTGTGGATCGAATAATCCGGGTGGATCATGCAGGCGAATATGGAGCAAACCGCATCTATGCCGGGCAGATGGCTGTCCTGGGTCGGACCAGCGTCGGGCCAGTCATTCAGGTGGGTGCTTCTTCATCTCCCTCACCCTGGTCTACTGAATGGGCAGATCCAAAGGACTTCAAGTAATGAATCATGGGAGGTCAAGCGTTCCCTAGGGAGATGCCATTGTCTCCAGGAGAGCGAAGGTTGGTTCTTGGTGGAGATGGGGAGCAAAAAGCATATTGT... | GATTTCGCAGTTCAGGAATGACTTTAGACAATATCAGTCGGGCAGCTGTGGATCGAATAATCCGGGTGGATCATGCAGGCGAATATGGAGCAAACCGCATCTATGCCGGGCAGATGGCTGTCCTGGGTCGGACCAGCGTCGGGCCAGTCATTCAGGTGGGTGCTTCTTCATCTCCCTCACCCTGGTCTACTGAATGGGCAGATCCAAAGGACTTCAAGTAATGAATCATGGGAGGTCAAGCGTTCCCTAGGGAGATGCCATTGTCTCCAGGAGAGCGAAGGTTGGTTCTTGGTGGAGATGGGGAGCAAAAAGCATATTGT... |
Task1_train_22438 | A variant was discovered on Chromosome 16, affecting COQ7 (coenzyme Q7, hydroxylase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Primary coenzyme Q10 deficiency 8 | TTGGTGCTCTCTTCTCTTTGTCACAGATTCCTTTAGTCTGATGTTTTACTGTTTCCATTGACGTTTTGAGGGGAATGGGGGAGACAGCAGTTCCATCATTTTCTCCGTTTCTGCTTTGCTCCCTGTATGCCGCTTGGATGAGTGGGAGGCCTCTATGGAATGCTTGCATGTCTTTATTTTTATGTTTCTTGCAGAAAATGTGGGATCAAGAAAAGGACCATTTGAAAAAGTTCAATGAGTTGATGGTTACGTTCAGGGTCCGGCCAACAGTTCTGATGCCCTTGTGGAACGTGCTGGGGTTTGCACTGGGTACGTGTCTC... | TTGGTGCTCTCTTCTCTTTGTCACAGATTCCTTTAGTCTGATGTTTTACTGTTTCCATTGACGTTTTGAGGGGAATGGGGGAGACAGCAGTTCCATCATTTTCTCCGTTTCTGCTTTGCTCCCTGTATGCCGCTTGGATGAGTGGGAGGCCTCTATGGAATGCTTGCATGTCTTTATTTTTATGTTTCTTGCAGAAAATGTGGGATCAAGAAAAGGACCATTTGAAAAAGTTCAATGAGTTGATGGTTACGTTCAGGGTCCGGCCAACAGTTCTGATGCCCTTGTGGAACGTGCTGGGGTTTGCACTGGGTACGTGTCTC... |
Task1_train_22439 | The following genetic variant occurs in VPS35L (VPS35 endosomal protein sorting factor like) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Ritscher-Schinzel syndrome 3 | TACAATCCATTCAACATTATTCACCCAATGCATGTCAGTGCCCAGCACTGTCCCAGGAGCCAGAGACAGGGCGGGATTGAATGTCATCAGGGACACCATCCACATTGAGTTCCTGGAGGCGCCATTAACAGAATACAGTGTGCAGCCAGCAGACCTGGCGGTGTATTGGCAAATGCAATAGATGAAGTGCCTGTCCTCCTGGAGGTTATAGGCTAGCATGAAACAGAGAGAACCAGGAAAACCACGAGATATTGTTGGGCAGGTCATTGAAGGAATACCTAAGATCATTTCAGATAGTGAGAAGTGCTCTGTAAAAAACA... | TACAATCCATTCAACATTATTCACCCAATGCATGTCAGTGCCCAGCACTGTCCCAGGAGCCAGAGACAGGGCGGGATTGAATGTCATCAGGGACACCATCCACATTGAGTTCCTGGAGGCGCCATTAACAGAATACAGTGTGCAGCCAGCAGACCTGGCGGTGTATTGGCAAATGCAATAGATGAAGTGCCTGTCCTCCTGGAGGTTATAGGCTAGCATGAAACAGAGAGAACCAGGAAAACCACGAGATATTGTTGGGCAGGTCATTGAAGGAATACCTAAGATCATTTCAGATAGTGAGAAGTGCTCTGTAAAAAACA... |
Task1_train_22440 | A variant affecting Chromosome 16, within the gene UMOD (uromodulin), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | GCCCGAGCACCGGCTGTCACTCAGGTACATGAAGACCTTGTCGAAGCCCAGACTCTTCAGCTGGCACTTGCCCAGCGACACCTTCATGTCATTGGCCCCACATTCCAGCCTGTGCTCCAGGAGGGAGATATCTGAAACAGGTTAGGTGGGATTGAGGACGTGTGTCTATAGCTTGGGGGCCCAGCACATCCCCAGGGGCCAGGTCCAGCTGGCTGGGCTGACCACCATCTGGAAGTGCTCAGCATAGCCTTGAGCTGATCTGTCCCCTCCCAATGTGATGGGGACTCAAGATTGGACCTCTGACATCAATGGATACATCC... | GCCCGAGCACCGGCTGTCACTCAGGTACATGAAGACCTTGTCGAAGCCCAGACTCTTCAGCTGGCACTTGCCCAGCGACACCTTCATGTCATTGGCCCCACATTCCAGCCTGTGCTCCAGGAGGGAGATATCTGAAACAGGTTAGGTGGGATTGAGGACGTGTGTCTATAGCTTGGGGGCCCAGCACATCCCCAGGGGCCAGGTCCAGCTGGCTGGGCTGACCACCATCTGGAAGTGCTCAGCATAGCCTTGAGCTGATCTGTCCCCTCCCAATGTGATGGGGACTCAAGATTGGACCTCTGACATCAATGGATACATCC... |
Task1_train_22441 | A genomic change on Chromosome 16 affects UMOD (uromodulin). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Familial juvenile hyperuricemic nephropathy type 1 | CCCGAGCACCGGCTGTCACTCAGGTACATGAAGACCTTGTCGAAGCCCAGACTCTTCAGCTGGCACTTGCCCAGCGACACCTTCATGTCATTGGCCCCACATTCCAGCCTGTGCTCCAGGAGGGAGATATCTGAAACAGGTTAGGTGGGATTGAGGACGTGTGTCTATAGCTTGGGGGCCCAGCACATCCCCAGGGGCCAGGTCCAGCTGGCTGGGCTGACCACCATCTGGAAGTGCTCAGCATAGCCTTGAGCTGATCTGTCCCCTCCCAATGTGATGGGGACTCAAGATTGGACCTCTGACATCAATGGATACATCCA... | CCCGAGCACCGGCTGTCACTCAGGTACATGAAGACCTTGTCGAAGCCCAGACTCTTCAGCTGGCACTTGCCCAGCGACACCTTCATGTCATTGGCCCCACATTCCAGCCTGTGCTCCAGGAGGGAGATATCTGAAACAGGTTAGGTGGGATTGAGGACGTGTGTCTATAGCTTGGGGGCCCAGCACATCCCCAGGGGCCAGGTCCAGCTGGCTGGGCTGACCACCATCTGGAAGTGCTCAGCATAGCCTTGAGCTGATCTGTCCCCTCCCAATGTGATGGGGACTCAAGATTGGACCTCTGACATCAATGGATACATCCA... |
Task1_train_22442 | This alteration in UMOD (uromodulin) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Familial juvenile hyperuricemic nephropathy type 1 | CCCAGACTCTTCAGCTGGCACTTGCCCAGCGACACCTTCATGTCATTGGCCCCACATTCCAGCCTGTGCTCCAGGAGGGAGATATCTGAAACAGGTTAGGTGGGATTGAGGACGTGTGTCTATAGCTTGGGGGCCCAGCACATCCCCAGGGGCCAGGTCCAGCTGGCTGGGCTGACCACCATCTGGAAGTGCTCAGCATAGCCTTGAGCTGATCTGTCCCCTCCCAATGTGATGGGGACTCAAGATTGGACCTCTGACATCAATGGATACATCCACTGACCAACCACTCAGTCTTGGGTTCCCCTAAATGTGGGTTATAT... | CCCAGACTCTTCAGCTGGCACTTGCCCAGCGACACCTTCATGTCATTGGCCCCACATTCCAGCCTGTGCTCCAGGAGGGAGATATCTGAAACAGGTTAGGTGGGATTGAGGACGTGTGTCTATAGCTTGGGGGCCCAGCACATCCCCAGGGGCCAGGTCCAGCTGGCTGGGCTGACCACCATCTGGAAGTGCTCAGCATAGCCTTGAGCTGATCTGTCCCCTCCCAATGTGATGGGGACTCAAGATTGGACCTCTGACATCAATGGATACATCCACTGACCAACCACTCAGTCTTGGGTTCCCCTAAATGTGGGTTATAT... |
Task1_train_22443 | This variant affects the gene UMOD (uromodulin) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Familial juvenile hyperuricemic nephropathy type 1 | CTTCAGCTGGCACTTGCCCAGCGACACCTTCATGTCATTGGCCCCACATTCCAGCCTGTGCTCCAGGAGGGAGATATCTGAAACAGGTTAGGTGGGATTGAGGACGTGTGTCTATAGCTTGGGGGCCCAGCACATCCCCAGGGGCCAGGTCCAGCTGGCTGGGCTGACCACCATCTGGAAGTGCTCAGCATAGCCTTGAGCTGATCTGTCCCCTCCCAATGTGATGGGGACTCAAGATTGGACCTCTGACATCAATGGATACATCCACTGACCAACCACTCAGTCTTGGGTTCCCCTAAATGTGGGTTATATACCAAATG... | CTTCAGCTGGCACTTGCCCAGCGACACCTTCATGTCATTGGCCCCACATTCCAGCCTGTGCTCCAGGAGGGAGATATCTGAAACAGGTTAGGTGGGATTGAGGACGTGTGTCTATAGCTTGGGGGCCCAGCACATCCCCAGGGGCCAGGTCCAGCTGGCTGGGCTGACCACCATCTGGAAGTGCTCAGCATAGCCTTGAGCTGATCTGTCCCCTCCCAATGTGATGGGGACTCAAGATTGGACCTCTGACATCAATGGATACATCCACTGACCAACCACTCAGTCTTGGGTTCCCCTAAATGTGGGTTATATACCAAATG... |
Task1_train_22444 | The gene UMOD (uromodulin) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Familial juvenile hyperuricemic nephropathy type 1 | GGGCCAGGTCCAGCTGGCTGGGCTGACCACCATCTGGAAGTGCTCAGCATAGCCTTGAGCTGATCTGTCCCCTCCCAATGTGATGGGGACTCAAGATTGGACCTCTGACATCAATGGATACATCCACTGACCAACCACTCAGTCTTGGGTTCCCCTAAATGTGGGTTATATACCAAATGCAGGACGGTTTTGGGGGGTTTTGATGTCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGG... | GGGCCAGGTCCAGCTGGCTGGGCTGACCACCATCTGGAAGTGCTCAGCATAGCCTTGAGCTGATCTGTCCCCTCCCAATGTGATGGGGACTCAAGATTGGACCTCTGACATCAATGGATACATCCACTGACCAACCACTCAGTCTTGGGTTCCCCTAAATGTGGGTTATATACCAAATGCAGGACGGTTTTGGGGGGTTTTGATGTCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGG... |
Task1_train_22445 | A genomic change on Chromosome 16 affects UMOD (uromodulin). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Familial juvenile hyperuricemic nephropathy type 1 | TCAAGATTGGACCTCTGACATCAATGGATACATCCACTGACCAACCACTCAGTCTTGGGTTCCCCTAAATGTGGGTTATATACCAAATGCAGGACGGTTTTGGGGGGTTTTGATGTCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATAT... | TCAAGATTGGACCTCTGACATCAATGGATACATCCACTGACCAACCACTCAGTCTTGGGTTCCCCTAAATGTGGGTTATATACCAAATGCAGGACGGTTTTGGGGGGTTTTGATGTCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATAT... |
Task1_train_22446 | This alteration in UMOD (uromodulin) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | TCAATGGATACATCCACTGACCAACCACTCAGTCTTGGGTTCCCCTAAATGTGGGTTATATACCAAATGCAGGACGGTTTTGGGGGGTTTTGATGTCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACC... | TCAATGGATACATCCACTGACCAACCACTCAGTCTTGGGTTCCCCTAAATGTGGGTTATATACCAAATGCAGGACGGTTTTGGGGGGTTTTGATGTCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACC... |
Task1_train_22447 | This variant affects gene UMOD (uromodulin) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; Familial juvenile hyperuricemic nephropathy type 1 | CAATGGATACATCCACTGACCAACCACTCAGTCTTGGGTTCCCCTAAATGTGGGTTATATACCAAATGCAGGACGGTTTTGGGGGGTTTTGATGTCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCT... | CAATGGATACATCCACTGACCAACCACTCAGTCTTGGGTTCCCCTAAATGTGGGTTATATACCAAATGCAGGACGGTTTTGGGGGGTTTTGATGTCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCT... |
Task1_train_22448 | A variant was discovered in gene UMOD (uromodulin), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Familial juvenile hyperuricemic nephropathy type 1 | TGTCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCA... | TGTCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCA... |
Task1_train_22449 | This is a variant in UMOD (uromodulin), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; Familial juvenile hyperuricemic nephropathy type 1 | TCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAG... | TCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAG... |
Task1_train_22450 | A genomic change on Chromosome 16 affects UMOD (uromodulin). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Familial juvenile hyperuricemic nephropathy type 1 | TCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAG... | TCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAG... |
Task1_train_22451 | A variant was discovered in gene UMOD (uromodulin), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Familial juvenile hyperuricemic nephropathy type 1 | GCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTC... | GCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTC... |
Task1_train_22452 | This variant affects gene UMOD (uromodulin) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; Familial juvenile hyperuricemic nephropathy type 1 | GTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGAT... | GTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGAT... |
Task1_train_22453 | A mutation on Chromosome 16 affecting UMOD (uromodulin) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | TATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATT... | TATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATT... |
Task1_train_22454 | The variant affects gene UMOD (uromodulin), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Familial juvenile hyperuricemic nephropathy type 1 | AAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAG... | AAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAG... |
Task1_train_22455 | Given a variant located on Chromosome 16 and affecting UMOD (uromodulin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Familial juvenile hyperuricemic nephropathy type 1 | AAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGG... | AAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGG... |
Task1_train_22456 | Consider a variant on Chromosome 16 in gene UMOD (uromodulin). Determine its clinical classification and disease relevance. | Pathogenic; UMOD-related disorder | CTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCT... | CTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCT... |
Task1_train_22457 | This mutation is located in gene UMOD (uromodulin) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Familial juvenile hyperuricemic nephropathy type 1 | CAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGC... | CAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGC... |
Task1_train_22458 | This alteration occurs within gene UMOD (uromodulin) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Familial juvenile hyperuricemic nephropathy type 1 | GCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTG... | GCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTG... |
Task1_train_22459 | This variant affects the gene UMOD (uromodulin) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Familial juvenile hyperuricemic nephropathy type 1 | CTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGG... | CTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGG... |
Task1_train_22460 | Given a variant located on Chromosome 16 and affecting UMOD (uromodulin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Familial juvenile hyperuricemic nephropathy type 1 | TGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGA... | TGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGA... |
Task1_train_22461 | This gene mutation involves UMOD (uromodulin) on Chromosome 16. Is it associated with any clinical condition, or is it benign? | Pathogenic; Familial juvenile hyperuricemic nephropathy type 1 | CCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATT... | CCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATT... |
Task1_train_22462 | Given a variant located on Chromosome 16 and affecting UMOD (uromodulin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Familial juvenile hyperuricemic nephropathy type 1 | CTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAAC... | CTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAAC... |
Task1_train_22463 | Gene UMOD (uromodulin) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | TCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACA... | TCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACA... |
Task1_train_22464 | This variant affects gene ACSM3, THUMPD1 (acyl-CoA synthetase medium chain family member 3| THUMP domain 1 NAT10 acetyltransferase adaptor) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; Neurodevelopmental disorder | TATCATCAGTAAATCAACTTATTGAGAATAAAGTCTCTTCAACTTTGTACTGCATCTTGCCCCAGCATTTTAATGTTATTAGATTCTCACCAACCATGCATATTTTCCTTTCCTGAGATAAGTTCTGCTACTAAATAATTTGCTTCTTAAACCTTTTGACTAAAGGTGATTTCTGAACAAAAGCCTTACTGTTTTTGATAGTCCAAAAGCCATTTGAAAATAATGAATATCCTTTCTTGTCAAGTGGCTGTGATTTATTGTTACAATTGCTAGTTTTGTAAGTTGCATGTCACAGACAATGCACAATGGGACAGGAGAGC... | TATCATCAGTAAATCAACTTATTGAGAATAAAGTCTCTTCAACTTTGTACTGCATCTTGCCCCAGCATTTTAATGTTATTAGATTCTCACCAACCATGCATATTTTCCTTTCCTGAGATAAGTTCTGCTACTAAATAATTTGCTTCTTAAACCTTTTGACTAAAGGTGATTTCTGAACAAAAGCCTTACTGTTTTTGATAGTCCAAAAGCCATTTGAAAATAATGAATATCCTTTCTTGTCAAGTGGCTGTGATTTATTGTTACAATTGCTAGTTTTGTAAGTTGCATGTCACAGACAATGCACAATGGGACAGGAGAGC... |
Task1_train_22465 | A variant was discovered on Chromosome 16, affecting ZP2 (zona pellucida glycoprotein 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Oocyte maturation defect 6 | AGGAGTCTAAGACCAGCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAGATATAAAAATTAGCTGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGTGAATCGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCTGGGGGACAAGAGTGAGACCTCGTCTCAAAAACAAAACAGAAGGCTTAGTAACTGAGCTACCACAGCTTCAAGAAAGCAAAGGTGCAGTTTTAGCCAAGTACACACTATTCCATAAGAATGGGTGAGATCCAGTTG... | AGGAGTCTAAGACCAGCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAGATATAAAAATTAGCTGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGTGAATCGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCTGGGGGACAAGAGTGAGACCTCGTCTCAAAAACAAAACAGAAGGCTTAGTAACTGAGCTACCACAGCTTCAAGAAAGCAAAGGTGCAGTTTTAGCCAAGTACACACTATTCCATAAGAATGGGTGAGATCCAGTTG... |
Task1_train_22466 | Located on Chromosome 16, this mutation impacts CRYM (crystallin mu). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 40 | AGAAAAGATATATGAATATTCTCATCATTCCATGCTCTTCTCTATATATCCTTTAGGGTAGTGACCATCAGGATTCCTCAGAAAGACTCCATAGTCACTTGAGATATGCAGAATCAGATCATGTGGGTAATGTGGGTATTTTGTTTCAGCACAAAGACCCCTGTCCAGACAGTCTGGCAAATATGATAAACTTTTGGCTAAACCATCTGGAGCATGAGTCCTTCCCAGGAGGAGTATGGTCAGGAAAACAGAGCCATGCTTTGCTGCTGACTTATCTGAAAACCAGCCTTGGAGTAGCAAAAAGCGAAGGGGTGGGGTGA... | AGAAAAGATATATGAATATTCTCATCATTCCATGCTCTTCTCTATATATCCTTTAGGGTAGTGACCATCAGGATTCCTCAGAAAGACTCCATAGTCACTTGAGATATGCAGAATCAGATCATGTGGGTAATGTGGGTATTTTGTTTCAGCACAAAGACCCCTGTCCAGACAGTCTGGCAAATATGATAAACTTTTGGCTAAACCATCTGGAGCATGAGTCCTTCCCAGGAGGAGTATGGTCAGGAAAACAGAGCCATGCTTTGCTGCTGACTTATCTGAAAACCAGCCTTGGAGTAGCAAAAAGCGAAGGGGTGGGGTGA... |
Task1_train_22467 | This variant affects gene OTOA (otoancorin) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 22 | CATTGTTATTAACTGTAGTCAGCATGTACAATAGATCTCCAGAACCTATTTTCCTATTTAACTGAAACATTGTGTCCTTTGTCCAAGTCTCTCCAACTCCCTTCCCACCTCCAGCCCCTGGTACCAACCATTCTAAGGCTCTGCTTCCATGAGTATGACGTTTGTTTATTTGTTTTTCAGATTCATAATATAAATGAGGTCATACAGTATTTGTCTTTCTGTGCCTAGCTTATTGCACTTAGCATAAGATCCTCCAAGTTCATCCATGGGGTCCCATATGATAGAATTTCCTTCTTTTTCAAAGCTGAAGAGCATTCCAT... | CATTGTTATTAACTGTAGTCAGCATGTACAATAGATCTCCAGAACCTATTTTCCTATTTAACTGAAACATTGTGTCCTTTGTCCAAGTCTCTCCAACTCCCTTCCCACCTCCAGCCCCTGGTACCAACCATTCTAAGGCTCTGCTTCCATGAGTATGACGTTTGTTTATTTGTTTTTCAGATTCATAATATAAATGAGGTCATACAGTATTTGTCTTTCTGTGCCTAGCTTATTGCACTTAGCATAAGATCCTCCAAGTTCATCCATGGGGTCCCATATGATAGAATTTCCTTCTTTTTCAAAGCTGAAGAGCATTCCAT... |
Task1_train_22468 | A variant has been detected on Chromosome 16 in PDZD9, UQCRC2 (PDZ domain containing 9| ubiquinol-cytochrome c reductase core protein 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Mitochondrial complex III deficiency nuclear type 5 | TCAACAAAAAAGGTTGTGGATGGGGTGATCTGACACTTTTTCAAAAAATGCCAAAGCTTTAGAACTACACAGAACCATGAAACTTTTATAAGGTAACTGAAAGATAAGAAAATACAGTGATTCTTTACATCATTTAAAAAATAAGCATCAAGAACTCTATAAATCACTAATAAATAGAGGTTTAAGAATGGCTTGGGTAAACTGGTGGGTTAGTAAGTCCATAATAAGTTATGCAGCTAGGCGGGGTGCAGTGGCTCACGCCTGTAATTCCAACACTTTGGGAGACCAAGGTGGGCAGATCACTTAAGATCAGGAGTTCA... | TCAACAAAAAAGGTTGTGGATGGGGTGATCTGACACTTTTTCAAAAAATGCCAAAGCTTTAGAACTACACAGAACCATGAAACTTTTATAAGGTAACTGAAAGATAAGAAAATACAGTGATTCTTTACATCATTTAAAAAATAAGCATCAAGAACTCTATAAATCACTAATAAATAGAGGTTTAAGAATGGCTTGGGTAAACTGGTGGGTTAGTAAGTCCATAATAAGTTATGCAGCTAGGCGGGGTGCAGTGGCTCACGCCTGTAATTCCAACACTTTGGGAGACCAAGGTGGGCAGATCACTTAAGATCAGGAGTTCA... |
Task1_train_22469 | This genomic variant is located on Chromosome 16, within the PDZD9, UQCRC2 (PDZ domain containing 9| ubiquinol-cytochrome c reductase core protein 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Mitochondrial complex III deficiency nuclear type 5 | CATGTTTGATGGTAAGTAAATTGTTTGTAAGATCCTAGAAGTTTTTCCTGTTTCCTTCCCAATGTTTTGTTTTTGTTTGTTTGTTTGTTTGTTTTTGAGACAGGGTGTTGCTTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCACTGCAGCCTGAACCTTCTGGACTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACACCACCGCACCCTGCTAATTTTTATTTTTATTTTTTTATAGAGATGAGGTCTCACTCTATTGCCCAGGCTGGTCTCGAACTCCTGGGCTGAAGTGATCC... | CATGTTTGATGGTAAGTAAATTGTTTGTAAGATCCTAGAAGTTTTTCCTGTTTCCTTCCCAATGTTTTGTTTTTGTTTGTTTGTTTGTTTGTTTTTGAGACAGGGTGTTGCTTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCACTGCAGCCTGAACCTTCTGGACTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACACCACCGCACCCTGCTAATTTTTATTTTTATTTTTTTATAGAGATGAGGTCTCACTCTATTGCCCAGGCTGGTCTCGAACTCCTGGGCTGAAGTGATCC... |
Task1_train_22470 | This sequence variant lies in PDZD9, UQCRC2 (PDZ domain containing 9| ubiquinol-cytochrome c reductase core protein 2) on Chromosome 16. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Mitochondrial complex III deficiency nuclear type 5 | GTTTGATGCCTTTCATTCATATGGCACTTTTATTTAGAAATTTTAACTTACATCATCCAACTTGAACAGGCAGCCGTTTTCATAAGACTGGACTCTAATGAGTTTTGAAATTTTTCAGAAATCAAATTCACCCTCATGAAGATGTGTCATTAAGTTAGCTAAAACTTAGCAAAAGTTTATCTACAAGGATGGCTATTGTAATACTAGTTTATAATTGTGAAAAATTAGAAACAAGTTAATATCCAGCATTAGGGAACTAGTTAAATAACTTATAGAATGGAACAGTATTCAACCATTCAAAAATATTAGTTGATACATAA... | GTTTGATGCCTTTCATTCATATGGCACTTTTATTTAGAAATTTTAACTTACATCATCCAACTTGAACAGGCAGCCGTTTTCATAAGACTGGACTCTAATGAGTTTTGAAATTTTTCAGAAATCAAATTCACCCTCATGAAGATGTGTCATTAAGTTAGCTAAAACTTAGCAAAAGTTTATCTACAAGGATGGCTATTGTAATACTAGTTTATAATTGTGAAAAATTAGAAACAAGTTAATATCCAGCATTAGGGAACTAGTTAAATAACTTATAGAATGGAACAGTATTCAACCATTCAAAAATATTAGTTGATACATAA... |
Task1_train_22471 | This variant lies on Chromosome 16 and affects the gene SCNN1B (sodium channel epithelial 1 subunit beta). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Liddle syndrome 1 | CACAGCCTGTCCTGGACCCAAGTCATTCTGCAAGTCAACTAGCTGAGACAAAAGATACAGGAAATGGCTTTCTTATCTGAAAACACGGGAAAATAACACCTGCCCTTGTGGGGTTATTTTGAGAATTAAATGAGATCACGAATACAGAAAGATTCAGCACAGGCCTGGCCCATAAAAGTCACTCAGTGAATGTTTGCTGTGGAGCATAAGGCTTCAAAGACAATACTGCATGGCAGGTGACGTTTTATGTGTGTGCATTATTTGATGTACTTACTCTCATTCCTTCCTGTTTTTATTTTTAATTTTTTACAAATTATTAT... | CACAGCCTGTCCTGGACCCAAGTCATTCTGCAAGTCAACTAGCTGAGACAAAAGATACAGGAAATGGCTTTCTTATCTGAAAACACGGGAAAATAACACCTGCCCTTGTGGGGTTATTTTGAGAATTAAATGAGATCACGAATACAGAAAGATTCAGCACAGGCCTGGCCCATAAAAGTCACTCAGTGAATGTTTGCTGTGGAGCATAAGGCTTCAAAGACAATACTGCATGGCAGGTGACGTTTTATGTGTGTGCATTATTTGATGTACTTACTCTCATTCCTTCCTGTTTTTATTTTTAATTTTTTACAAATTATTAT... |
Task1_train_22472 | Mutation context: Chromosome 16, Gene SCNN1B (sodium channel epithelial 1 subunit beta). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Bronchiectasis with or without elevated sweat chloride 1 | CACAGCCTGTCCTGGACCCAAGTCATTCTGCAAGTCAACTAGCTGAGACAAAAGATACAGGAAATGGCTTTCTTATCTGAAAACACGGGAAAATAACACCTGCCCTTGTGGGGTTATTTTGAGAATTAAATGAGATCACGAATACAGAAAGATTCAGCACAGGCCTGGCCCATAAAAGTCACTCAGTGAATGTTTGCTGTGGAGCATAAGGCTTCAAAGACAATACTGCATGGCAGGTGACGTTTTATGTGTGTGCATTATTTGATGTACTTACTCTCATTCCTTCCTGTTTTTATTTTTAATTTTTTACAAATTATTAT... | CACAGCCTGTCCTGGACCCAAGTCATTCTGCAAGTCAACTAGCTGAGACAAAAGATACAGGAAATGGCTTTCTTATCTGAAAACACGGGAAAATAACACCTGCCCTTGTGGGGTTATTTTGAGAATTAAATGAGATCACGAATACAGAAAGATTCAGCACAGGCCTGGCCCATAAAAGTCACTCAGTGAATGTTTGCTGTGGAGCATAAGGCTTCAAAGACAATACTGCATGGCAGGTGACGTTTTATGTGTGTGCATTATTTGATGTACTTACTCTCATTCCTTCCTGTTTTTATTTTTAATTTTTTACAAATTATTAT... |
Task1_train_22473 | Assess the clinical impact of this variant on gene SCNN1B (sodium channel epithelial 1 subunit beta), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Pseudohypoaldosteronism, type IB2, autosomal recessive | CACAGCCTGTCCTGGACCCAAGTCATTCTGCAAGTCAACTAGCTGAGACAAAAGATACAGGAAATGGCTTTCTTATCTGAAAACACGGGAAAATAACACCTGCCCTTGTGGGGTTATTTTGAGAATTAAATGAGATCACGAATACAGAAAGATTCAGCACAGGCCTGGCCCATAAAAGTCACTCAGTGAATGTTTGCTGTGGAGCATAAGGCTTCAAAGACAATACTGCATGGCAGGTGACGTTTTATGTGTGTGCATTATTTGATGTACTTACTCTCATTCCTTCCTGTTTTTATTTTTAATTTTTTACAAATTATTAT... | CACAGCCTGTCCTGGACCCAAGTCATTCTGCAAGTCAACTAGCTGAGACAAAAGATACAGGAAATGGCTTTCTTATCTGAAAACACGGGAAAATAACACCTGCCCTTGTGGGGTTATTTTGAGAATTAAATGAGATCACGAATACAGAAAGATTCAGCACAGGCCTGGCCCATAAAAGTCACTCAGTGAATGTTTGCTGTGGAGCATAAGGCTTCAAAGACAATACTGCATGGCAGGTGACGTTTTATGTGTGTGCATTATTTGATGTACTTACTCTCATTCCTTCCTGTTTTTATTTTTAATTTTTTACAAATTATTAT... |
Task1_train_22474 | This is a variant in SCNN1B (sodium channel epithelial 1 subunit beta), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; Liddle syndrome 1 | GAAGCCCAGCAAAAGCACTTCCTCACTGGAAGACCTCAGACAAGTCCCTTCACTTCTCTGTGCCTCAGTTTCTCCATCTGTAAAATGGGGACAATACTAGTACCTCCATCATGCAGCCCTTGTGAGCATCCGAGGAGCTCATGTTTATTTTATTTTATTTTTGGAGATGGAGTCTCACTCTCGCTCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCATGCGCCACAATGCCCAACTAATTTTTGTATT... | GAAGCCCAGCAAAAGCACTTCCTCACTGGAAGACCTCAGACAAGTCCCTTCACTTCTCTGTGCCTCAGTTTCTCCATCTGTAAAATGGGGACAATACTAGTACCTCCATCATGCAGCCCTTGTGAGCATCCGAGGAGCTCATGTTTATTTTATTTTATTTTTGGAGATGGAGTCTCACTCTCGCTCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCATGCGCCACAATGCCCAACTAATTTTTGTATT... |
Task1_train_22475 | This variant impacts the gene SCNN1B (sodium channel epithelial 1 subunit beta) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; Pseudohypoaldosteronism, type IB2, autosomal recessive | GAAGCCCAGCAAAAGCACTTCCTCACTGGAAGACCTCAGACAAGTCCCTTCACTTCTCTGTGCCTCAGTTTCTCCATCTGTAAAATGGGGACAATACTAGTACCTCCATCATGCAGCCCTTGTGAGCATCCGAGGAGCTCATGTTTATTTTATTTTATTTTTGGAGATGGAGTCTCACTCTCGCTCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCATGCGCCACAATGCCCAACTAATTTTTGTATT... | GAAGCCCAGCAAAAGCACTTCCTCACTGGAAGACCTCAGACAAGTCCCTTCACTTCTCTGTGCCTCAGTTTCTCCATCTGTAAAATGGGGACAATACTAGTACCTCCATCATGCAGCCCTTGTGAGCATCCGAGGAGCTCATGTTTATTTTATTTTATTTTTGGAGATGGAGTCTCACTCTCGCTCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCATGCGCCACAATGCCCAACTAATTTTTGTATT... |
Task1_train_22476 | Assess the clinical impact of this variant on gene SCNN1B (sodium channel epithelial 1 subunit beta), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Bronchiectasis with or without elevated sweat chloride 1 | GAAGCCCAGCAAAAGCACTTCCTCACTGGAAGACCTCAGACAAGTCCCTTCACTTCTCTGTGCCTCAGTTTCTCCATCTGTAAAATGGGGACAATACTAGTACCTCCATCATGCAGCCCTTGTGAGCATCCGAGGAGCTCATGTTTATTTTATTTTATTTTTGGAGATGGAGTCTCACTCTCGCTCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCATGCGCCACAATGCCCAACTAATTTTTGTATT... | GAAGCCCAGCAAAAGCACTTCCTCACTGGAAGACCTCAGACAAGTCCCTTCACTTCTCTGTGCCTCAGTTTCTCCATCTGTAAAATGGGGACAATACTAGTACCTCCATCATGCAGCCCTTGTGAGCATCCGAGGAGCTCATGTTTATTTTATTTTATTTTTGGAGATGGAGTCTCACTCTCGCTCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCATGCGCCACAATGCCCAACTAATTTTTGTATT... |
Task1_train_22477 | The variant affects gene SCNN1B (sodium channel epithelial 1 subunit beta), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Bronchiectasis with or without elevated sweat chloride 1 | TGTGAGGACCAGAGGTGGGAGAGAGCCGGGCAGGGTGGCCAGGCCCGCCGAGGAAGAGTCTGGAGGCCCGAGTCCTTCCTCCCCTAGAACAGCAGCCACAGCTTCCACTACGACCTTCCTCCTGCTCCTCATCCAAATTGTGATTCCCCCGGGGGCCTCAGGAAGGGACAGGGCTGTGGTCTACCTCCCCCAGGGAACAGAGCCATGACTGGGAGGGATGCTGCAGATGGCAACTTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAG... | TGTGAGGACCAGAGGTGGGAGAGAGCCGGGCAGGGTGGCCAGGCCCGCCGAGGAAGAGTCTGGAGGCCCGAGTCCTTCCTCCCCTAGAACAGCAGCCACAGCTTCCACTACGACCTTCCTCCTGCTCCTCATCCAAATTGTGATTCCCCCGGGGGCCTCAGGAAGGGACAGGGCTGTGGTCTACCTCCCCCAGGGAACAGAGCCATGACTGGGAGGGATGCTGCAGATGGCAACTTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAG... |
Task1_train_22478 | Gene SCNN1B (sodium channel epithelial 1 subunit beta), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Liddle syndrome 1 | ACTTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCAT... | ACTTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCAT... |
Task1_train_22479 | A change on Chromosome 16 affects gene SCNN1B (sodium channel epithelial 1 subunit beta). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Liddle syndrome 1 | ACTTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCAT... | ACTTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCAT... |
Task1_train_22480 | The variant affects gene SCNN1B (sodium channel epithelial 1 subunit beta), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Bronchiectasis with or without elevated sweat chloride 1 | ACTTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCAT... | ACTTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCAT... |
Task1_train_22481 | This alteration occurs within gene SCNN1B (sodium channel epithelial 1 subunit beta) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Pseudohypoaldosteronism, type IB2, autosomal recessive | ACTTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCAT... | ACTTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCAT... |
Task1_train_22482 | Consider this mutation in SCNN1B (sodium channel epithelial 1 subunit beta) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; Liddle syndrome 1 | TTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCC... | TTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCC... |
Task1_train_22483 | A sequence alteration has been identified in SCNN1B (sodium channel epithelial 1 subunit beta) on Chromosome 16. Is it disease-inducing or harmless? | Pathogenic; Pseudohypoaldosteronism, type IB2, autosomal recessive | TTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCC... | TTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCC... |
Task1_train_22484 | A mutation found in SCNN1B (sodium channel epithelial 1 subunit beta) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Bronchiectasis with or without elevated sweat chloride 1 | TTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCC... | TTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCC... |
Task1_train_22485 | A variant was discovered in gene SCNN1B (sodium channel epithelial 1 subunit beta), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Liddle syndrome 1 | TTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCA... | TTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCA... |
Task1_train_22486 | This mutation is located in gene SCNN1B (sodium channel epithelial 1 subunit beta) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Pseudohypoaldosteronism, type IB2, autosomal recessive | TGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAAC... | TGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAAC... |
Task1_train_22487 | This is a variant in SCNN1B (sodium channel epithelial 1 subunit beta), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; Bronchiectasis with or without elevated sweat chloride 1 | TGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAAC... | TGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAAC... |
Task1_train_22488 | Mutation context: Chromosome 16, Gene SCNN1B (sodium channel epithelial 1 subunit beta). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Liddle syndrome 1 | TGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAAC... | TGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAAC... |
Task1_train_22489 | This mutation is located in gene SCNN1B (sodium channel epithelial 1 subunit beta) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Liddle syndrome 1 | CACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAACCAGCCA... | CACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAACCAGCCA... |
Task1_train_22490 | Chromosome 16 houses a mutation in gene COG7, LOC130058658 (component of oligomeric golgi complex 7| ATAC-STARR-seq lymphoblastoid active region 10580). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; COG7 congenital disorder of glycosylation | CACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTGGCCAACATCATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGGGTGGGGCACGCACCTGTAATCCCAGCTACTCAGGAGGTAGAGGCAGGAGAATAACTTGAACTCAGAAGGGGGAGGTTGCAGTGAGCTGAGATGGCGCCACTGCACTCCAGCCAGGGGGAAAGAGCGAGACTTCGTCTCAAAAAAAACAAAAAAACAAACAAAAATGGGAACATCTCTTGGACTATCCACTCCCAGTGGAAGCAGTCTGTTT... | CACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTGGCCAACATCATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGGGTGGGGCACGCACCTGTAATCCCAGCTACTCAGGAGGTAGAGGCAGGAGAATAACTTGAACTCAGAAGGGGGAGGTTGCAGTGAGCTGAGATGGCGCCACTGCACTCCAGCCAGGGGGAAAGAGCGAGACTTCGTCTCAAAAAAAACAAAAAAACAAACAAAAATGGGAACATCTCTTGGACTATCCACTCCCAGTGGAAGCAGTCTGTTT... |
Task1_train_22491 | A variant on Chromosome 16 in gene EARS2, EARS2 (glutamyl-tRNA synthetase 2, mitochondrial| glutamyl-tRNA synthetase 2, mitochondrial) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | TACACACATACATACATACATTTTTCTGTAGACATGGAGTTTCACTATATTGCCCAGGTTGGTCTCAAACTCCCAGGCTTAAATGATCCTCCTGCACTGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACTGTGCCCGCCCTCCTTCTACTTTCAAACATAAGGGAGGCTGAGTGAGCAAGCCCTGGGCCCCCCATTCCACTTTGCCCAAAGGGATTTAACTTCTAGCTATTTATATATCAAGAGCCTGAATGAGCTTTCATTTTCAGAAAGGGTTCCATCATTAAAGAAAAAAAGGTCTGAAAACAATCAGGCT... | TACACACATACATACATACATTTTTCTGTAGACATGGAGTTTCACTATATTGCCCAGGTTGGTCTCAAACTCCCAGGCTTAAATGATCCTCCTGCACTGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACTGTGCCCGCCCTCCTTCTACTTTCAAACATAAGGGAGGCTGAGTGAGCAAGCCCTGGGCCCCCCATTCCACTTTGCCCAAAGGGATTTAACTTCTAGCTATTTATATATCAAGAGCCTGAATGAGCTTTCATTTTCAGAAAGGGTTCCATCATTAAAGAAAAAAAGGTCTGAAAACAATCAGGCT... |
Task1_train_22492 | A mutation on Chromosome 16 affecting EARS2 (glutamyl-tRNA synthetase 2, mitochondrial) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | AGCACTTTGGGAGGCCGAGGCAGGAGAATTAACTTGAGGTCAGGGGTTCAACAGCAGCCTGGGCAACATAGCAAGACCCTACCTCTACAAAAACATAAGTTAATAAAATTAGCTGGGCATGGTGGCACACAGCTATGGTGCCAGCTACCCAGGAGGCTAAGGTGAGAGGATCCCTTGAGCTCAGGAATTTGAGATTACAGTGAGCTGTGTTTGAACCACTGCGCTCTAGCCTGGGCAACAGAGCAAGATTTTGTTTGTTAAAAAAAAAAAAAAAGAAATAATTAATCCACTCATCTGTCTTTTCCCTTGGCACTAAGCAC... | AGCACTTTGGGAGGCCGAGGCAGGAGAATTAACTTGAGGTCAGGGGTTCAACAGCAGCCTGGGCAACATAGCAAGACCCTACCTCTACAAAAACATAAGTTAATAAAATTAGCTGGGCATGGTGGCACACAGCTATGGTGCCAGCTACCCAGGAGGCTAAGGTGAGAGGATCCCTTGAGCTCAGGAATTTGAGATTACAGTGAGCTGTGTTTGAACCACTGCGCTCTAGCCTGGGCAACAGAGCAAGATTTTGTTTGTTAAAAAAAAAAAAAAAGAAATAATTAATCCACTCATCTGTCTTTTCCCTTGGCACTAAGCAC... |
Task1_train_22493 | A mutation on Chromosome 16 affecting EARS2 (glutamyl-tRNA synthetase 2, mitochondrial) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | CATAAGTTAATAAAATTAGCTGGGCATGGTGGCACACAGCTATGGTGCCAGCTACCCAGGAGGCTAAGGTGAGAGGATCCCTTGAGCTCAGGAATTTGAGATTACAGTGAGCTGTGTTTGAACCACTGCGCTCTAGCCTGGGCAACAGAGCAAGATTTTGTTTGTTAAAAAAAAAAAAAAAGAAATAATTAATCCACTCATCTGTCTTTTCCCTTGGCACTAAGCACATGGTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGATGCAATCTCGGCTCACTGCAAGCTC... | CATAAGTTAATAAAATTAGCTGGGCATGGTGGCACACAGCTATGGTGCCAGCTACCCAGGAGGCTAAGGTGAGAGGATCCCTTGAGCTCAGGAATTTGAGATTACAGTGAGCTGTGTTTGAACCACTGCGCTCTAGCCTGGGCAACAGAGCAAGATTTTGTTTGTTAAAAAAAAAAAAAAAGAAATAATTAATCCACTCATCTGTCTTTTCCCTTGGCACTAAGCACATGGTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGATGCAATCTCGGCTCACTGCAAGCTC... |
Task1_train_22494 | A variant affecting Chromosome 16, within the gene PALB2 (partner and localizer of BRCA2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Familial cancer of breast | AGTGATTGGTGGTTTTGTAAAACAGGCCCCAGAAAGCTGCCTTCTACCATGTGAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATC... | AGTGATTGGTGGTTTTGTAAAACAGGCCCCAGAAAGCTGCCTTCTACCATGTGAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATC... |
Task1_train_22495 | With a mutation on Chromosome 16 in gene PALB2 (partner and localizer of BRCA2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Gastric cancer | AAAGGATTCTCTCAGCAGCAAAGCCAGCCTCGGTTTTTCTGCTTTTTAGCAACTTTTTAGCTGTACTCATCTTTCAACCAACAAAACATCAAGATTTCCATCCTCCATACATGCCTTTTTTAAAAAAAAGAAAAGACCTACTCAGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTGGGGAAGCTGAGGTGGGTGGATCATTTGAGGTCAAGAGTTCGAGACCCGCCTGGCCAACATGGTGAAATCCTGCTTCTACTAAAGATACAAAAATGAGCCGGGTGTGGTGGTGGGTGCCTGTAGGAGGCTGAAGCAGG... | AAAGGATTCTCTCAGCAGCAAAGCCAGCCTCGGTTTTTCTGCTTTTTAGCAACTTTTTAGCTGTACTCATCTTTCAACCAACAAAACATCAAGATTTCCATCCTCCATACATGCCTTTTTTAAAAAAAAGAAAAGACCTACTCAGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTGGGGAAGCTGAGGTGGGTGGATCATTTGAGGTCAAGAGTTCGAGACCCGCCTGGCCAACATGGTGAAATCCTGCTTCTACTAAAGATACAAAAATGAGCCGGGTGTGGTGGTGGGTGCCTGTAGGAGGCTGAAGCAGG... |
Task1_train_22496 | Chromosome 16 houses a mutation in gene PRKCB (protein kinase C beta). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Progressive sensorineural hearing impairment | GATGTGAGCCACCACACCCGGTTTCTATTCTTATTTTTAATACTTAATTGTTAACACGTATATTTAAACTTATAATGTCCTATATGCAATTTCTCAATATCAATAATCTTTTGAGGAATATAAGACTCAGCACATTTTCATCTTGTAACCCTCCTGCAACTCCCATTTCTTATGACTTGGGTTTTCTCTACTTCTCTATCTCTTCCTCTGTTGAAAACTTTTCATATTATGGAAAAAATTAAACATATATAAAAGTAACATTAGTATAATGCATCCTTGTGTATGCATCACCCAGTTCAATAATGACCCATCATGATCAA... | GATGTGAGCCACCACACCCGGTTTCTATTCTTATTTTTAATACTTAATTGTTAACACGTATATTTAAACTTATAATGTCCTATATGCAATTTCTCAATATCAATAATCTTTTGAGGAATATAAGACTCAGCACATTTTCATCTTGTAACCCTCCTGCAACTCCCATTTCTTATGACTTGGGTTTTCTCTACTTCTCTATCTCTTCCTCTGTTGAAAACTTTTCATATTATGGAAAAAATTAAACATATATAAAAGTAACATTAGTATAATGCATCCTTGTGTATGCATCACCCAGTTCAATAATGACCCATCATGATCAA... |
Task1_train_22497 | This is a variant in IL21R (interleukin 21 receptor), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; Cryptosporidiosis-chronic cholangitis-liver disease syndrome | TCCTGACCTCGTGACCCACCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCAGACTGTTTTATTTCGTCACAGTCCCTAAACCTGCTTCACTCCTCTCTGTGACCTGCCCGCCCCTGAGTTTGCAATCCTGATCAGGTCTAAATCTCCCAGGTCCCAGATGAATAAACTGAAGCCCAGAGTTGGGAGTACTTTGCCCAAAGTCACTCAGGGTTGTTGGTCTTCATCTCATCCATGATGGGTCAGGCATGGAGGCAGGGGTGGGGGCAGGCAGGACTTCCTCCCATCACCAAATCCTT... | TCCTGACCTCGTGACCCACCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCAGACTGTTTTATTTCGTCACAGTCCCTAAACCTGCTTCACTCCTCTCTGTGACCTGCCCGCCCCTGAGTTTGCAATCCTGATCAGGTCTAAATCTCCCAGGTCCCAGATGAATAAACTGAAGCCCAGAGTTGGGAGTACTTTGCCCAAAGTCACTCAGGGTTGTTGGTCTTCATCTCATCCATGATGGGTCAGGCATGGAGGCAGGGGTGGGGGCAGGCAGGACTTCCTCCCATCACCAAATCCTT... |
Task1_train_22498 | A variant found in Chromosome 16 affects CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Neuronal ceroid lipofuscinosis 3 | GTACAGTACTGCAATCTCGGCTCACTGCAACCTCCATATCCGGAGTTCAAGCAATTCTCCTGCCTCAGCCTAGCGAGTAGCTGAGATGACAGGCAGGTGCCACCACGCCCAACTAATTTTTGCATTTTTAATAGAGACGGGGTTTCACTGTGTTGGCCAGACTGGTCTCAAACTCCTGATCCTGACCTCAGGTGATTCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGACTGGCCAAGTTCCTAAATTTCAAAGGCAGAAGACTTTCCTGTCACAGTTGACAGTTTATTGTAACAGTTAC... | GTACAGTACTGCAATCTCGGCTCACTGCAACCTCCATATCCGGAGTTCAAGCAATTCTCCTGCCTCAGCCTAGCGAGTAGCTGAGATGACAGGCAGGTGCCACCACGCCCAACTAATTTTTGCATTTTTAATAGAGACGGGGTTTCACTGTGTTGGCCAGACTGGTCTCAAACTCCTGATCCTGACCTCAGGTGATTCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGACTGGCCAAGTTCCTAAATTTCAAAGGCAGAAGACTTTCCTGTCACAGTTGACAGTTTATTGTAACAGTTAC... |
Task1_train_22499 | Assess the clinical impact of this variant on gene CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Retinal dystrophy | GTACAGTACTGCAATCTCGGCTCACTGCAACCTCCATATCCGGAGTTCAAGCAATTCTCCTGCCTCAGCCTAGCGAGTAGCTGAGATGACAGGCAGGTGCCACCACGCCCAACTAATTTTTGCATTTTTAATAGAGACGGGGTTTCACTGTGTTGGCCAGACTGGTCTCAAACTCCTGATCCTGACCTCAGGTGATTCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGACTGGCCAAGTTCCTAAATTTCAAAGGCAGAAGACTTTCCTGTCACAGTTGACAGTTTATTGTAACAGTTAC... | GTACAGTACTGCAATCTCGGCTCACTGCAACCTCCATATCCGGAGTTCAAGCAATTCTCCTGCCTCAGCCTAGCGAGTAGCTGAGATGACAGGCAGGTGCCACCACGCCCAACTAATTTTTGCATTTTTAATAGAGACGGGGTTTCACTGTGTTGGCCAGACTGGTCTCAAACTCCTGATCCTGACCTCAGGTGATTCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGACTGGCCAAGTTCCTAAATTTCAAAGGCAGAAGACTTTCCTGTCACAGTTGACAGTTTATTGTAACAGTTAC... |
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