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_11900 | This gene mutation involves SLC26A4 (solute carrier family 26 member 4) on Chromosome 7. Is it associated with any clinical condition, or is it benign? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | ATACCTCCAGATTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGAAACCTCCGCCTCCTGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTACCCCCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGGTGGTCTTGAGCTCCTGACCTCCTGATCCACCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACTCACCGCGCCCGGTCCCTCCGGCTTTTTTT... | ATACCTCCAGATTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGAAACCTCCGCCTCCTGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTACCCCCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGGTGGTCTTGAGCTCCTGACCTCCTGATCCACCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACTCACCGCGCCCGGTCCCTCCGGCTTTTTTT... |
Task1_train_11901 | Given this variant in gene SLC26A4 (solute carrier family 26 member 4) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Pendred syndrome | GAGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGAAACCTCCGCCTCCTGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTACCCCCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGGTGGTCTTGAGCTCCTGACCTCCTGATCCACCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACTCACCGCGCCCGGTCCCTCCGGCTTTTTTTAATGCGTACACTCCCACAGGCTGGAGTGGGAG... | GAGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGAAACCTCCGCCTCCTGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTACCCCCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGGTGGTCTTGAGCTCCTGACCTCCTGATCCACCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACTCACCGCGCCCGGTCCCTCCGGCTTTTTTTAATGCGTACACTCCCACAGGCTGGAGTGGGAG... |
Task1_train_11902 | A sequence alteration has been identified in SLC26A4 (solute carrier family 26 member 4) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Pendred syndrome | CCTCCTGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTACCCCCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGGTGGTCTTGAGCTCCTGACCTCCTGATCCACCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACTCACCGCGCCCGGTCCCTCCGGCTTTTTTTAATGCGTACACTCCCACAGGCTGGAGTGGGAGTGTATTTTTTACAAAAGAGGAAGCATACATACCTATCAGTTTTGAATCTTGATTTTACTCACT... | CCTCCTGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTACCCCCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGGTGGTCTTGAGCTCCTGACCTCCTGATCCACCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACTCACCGCGCCCGGTCCCTCCGGCTTTTTTTAATGCGTACACTCCCACAGGCTGGAGTGGGAGTGTATTTTTTACAAAAGAGGAAGCATACATACCTATCAGTTTTGAATCTTGATTTTACTCACT... |
Task1_train_11903 | This gene mutation involves SLC26A4 (solute carrier family 26 member 4) on Chromosome 7. Is it associated with any clinical condition, or is it benign? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | TTTGCATGTGCTTTCAGGGATGGCATATGCCCTACTAGCTGCAGTTCCTGTCGGATATGGTCTCTACTCTGCTTTTTTCCCTATCCTGACATACTTTATCTTTGGAACATCAAGACATATCTCAGTTGGTAATTATAAGTATATTTTACAATTATATTTGCTCATGTTTAAAGTGTTTTGGCTATATTAAGTGCATTATACCTCTATTAGGTTGGTGCAAAAGTAATTGCGGTTTTCACAATTATACTTTTAATTGTGAAAACCGCAATTACTTTTGCACCAACCTAATATATCTGTGTTAATGTTGTCAGGGAAATGGG... | TTTGCATGTGCTTTCAGGGATGGCATATGCCCTACTAGCTGCAGTTCCTGTCGGATATGGTCTCTACTCTGCTTTTTTCCCTATCCTGACATACTTTATCTTTGGAACATCAAGACATATCTCAGTTGGTAATTATAAGTATATTTTACAATTATATTTGCTCATGTTTAAAGTGTTTTGGCTATATTAAGTGCATTATACCTCTATTAGGTTGGTGCAAAAGTAATTGCGGTTTTCACAATTATACTTTTAATTGTGAAAACCGCAATTACTTTTGCACCAACCTAATATATCTGTGTTAATGTTGTCAGGGAAATGGG... |
Task1_train_11904 | An alteration has been detected in SLC26A4 (solute carrier family 26 member 4) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | TTGCATGTGCTTTCAGGGATGGCATATGCCCTACTAGCTGCAGTTCCTGTCGGATATGGTCTCTACTCTGCTTTTTTCCCTATCCTGACATACTTTATCTTTGGAACATCAAGACATATCTCAGTTGGTAATTATAAGTATATTTTACAATTATATTTGCTCATGTTTAAAGTGTTTTGGCTATATTAAGTGCATTATACCTCTATTAGGTTGGTGCAAAAGTAATTGCGGTTTTCACAATTATACTTTTAATTGTGAAAACCGCAATTACTTTTGCACCAACCTAATATATCTGTGTTAATGTTGTCAGGGAAATGGGA... | TTGCATGTGCTTTCAGGGATGGCATATGCCCTACTAGCTGCAGTTCCTGTCGGATATGGTCTCTACTCTGCTTTTTTCCCTATCCTGACATACTTTATCTTTGGAACATCAAGACATATCTCAGTTGGTAATTATAAGTATATTTTACAATTATATTTGCTCATGTTTAAAGTGTTTTGGCTATATTAAGTGCATTATACCTCTATTAGGTTGGTGCAAAAGTAATTGCGGTTTTCACAATTATACTTTTAATTGTGAAAACCGCAATTACTTTTGCACCAACCTAATATATCTGTGTTAATGTTGTCAGGGAAATGGGA... |
Task1_train_11905 | An alteration has been detected in SLC26A4 (solute carrier family 26 member 4) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | GATGGCATATGCCCTACTAGCTGCAGTTCCTGTCGGATATGGTCTCTACTCTGCTTTTTTCCCTATCCTGACATACTTTATCTTTGGAACATCAAGACATATCTCAGTTGGTAATTATAAGTATATTTTACAATTATATTTGCTCATGTTTAAAGTGTTTTGGCTATATTAAGTGCATTATACCTCTATTAGGTTGGTGCAAAAGTAATTGCGGTTTTCACAATTATACTTTTAATTGTGAAAACCGCAATTACTTTTGCACCAACCTAATATATCTGTGTTAATGTTGTCAGGGAAATGGGATTTCAGTGTTTTGCCTG... | GATGGCATATGCCCTACTAGCTGCAGTTCCTGTCGGATATGGTCTCTACTCTGCTTTTTTCCCTATCCTGACATACTTTATCTTTGGAACATCAAGACATATCTCAGTTGGTAATTATAAGTATATTTTACAATTATATTTGCTCATGTTTAAAGTGTTTTGGCTATATTAAGTGCATTATACCTCTATTAGGTTGGTGCAAAAGTAATTGCGGTTTTCACAATTATACTTTTAATTGTGAAAACCGCAATTACTTTTGCACCAACCTAATATATCTGTGTTAATGTTGTCAGGGAAATGGGATTTCAGTGTTTTGCCTG... |
Task1_train_11906 | This variant affects the gene SLC26A4 (solute carrier family 26 member 4) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Pendred syndrome | GATGGCATATGCCCTACTAGCTGCAGTTCCTGTCGGATATGGTCTCTACTCTGCTTTTTTCCCTATCCTGACATACTTTATCTTTGGAACATCAAGACATATCTCAGTTGGTAATTATAAGTATATTTTACAATTATATTTGCTCATGTTTAAAGTGTTTTGGCTATATTAAGTGCATTATACCTCTATTAGGTTGGTGCAAAAGTAATTGCGGTTTTCACAATTATACTTTTAATTGTGAAAACCGCAATTACTTTTGCACCAACCTAATATATCTGTGTTAATGTTGTCAGGGAAATGGGATTTCAGTGTTTTGCCTG... | GATGGCATATGCCCTACTAGCTGCAGTTCCTGTCGGATATGGTCTCTACTCTGCTTTTTTCCCTATCCTGACATACTTTATCTTTGGAACATCAAGACATATCTCAGTTGGTAATTATAAGTATATTTTACAATTATATTTGCTCATGTTTAAAGTGTTTTGGCTATATTAAGTGCATTATACCTCTATTAGGTTGGTGCAAAAGTAATTGCGGTTTTCACAATTATACTTTTAATTGTGAAAACCGCAATTACTTTTGCACCAACCTAATATATCTGTGTTAATGTTGTCAGGGAAATGGGATTTCAGTGTTTTGCCTG... |
Task1_train_11907 | Located on Chromosome 7, this mutation impacts SLC26A4 (solute carrier family 26 member 4). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Pendred syndrome | GATGGCATATGCCCTACTAGCTGCAGTTCCTGTCGGATATGGTCTCTACTCTGCTTTTTTCCCTATCCTGACATACTTTATCTTTGGAACATCAAGACATATCTCAGTTGGTAATTATAAGTATATTTTACAATTATATTTGCTCATGTTTAAAGTGTTTTGGCTATATTAAGTGCATTATACCTCTATTAGGTTGGTGCAAAAGTAATTGCGGTTTTCACAATTATACTTTTAATTGTGAAAACCGCAATTACTTTTGCACCAACCTAATATATCTGTGTTAATGTTGTCAGGGAAATGGGATTTCAGTGTTTTGCCTG... | GATGGCATATGCCCTACTAGCTGCAGTTCCTGTCGGATATGGTCTCTACTCTGCTTTTTTCCCTATCCTGACATACTTTATCTTTGGAACATCAAGACATATCTCAGTTGGTAATTATAAGTATATTTTACAATTATATTTGCTCATGTTTAAAGTGTTTTGGCTATATTAAGTGCATTATACCTCTATTAGGTTGGTGCAAAAGTAATTGCGGTTTTCACAATTATACTTTTAATTGTGAAAACCGCAATTACTTTTGCACCAACCTAATATATCTGTGTTAATGTTGTCAGGGAAATGGGATTTCAGTGTTTTGCCTG... |
Task1_train_11908 | Given this context: Chromosome 7, gene SLC26A4 (solute carrier family 26 member 4) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | GATGGCATATGCCCTACTAGCTGCAGTTCCTGTCGGATATGGTCTCTACTCTGCTTTTTTCCCTATCCTGACATACTTTATCTTTGGAACATCAAGACATATCTCAGTTGGTAATTATAAGTATATTTTACAATTATATTTGCTCATGTTTAAAGTGTTTTGGCTATATTAAGTGCATTATACCTCTATTAGGTTGGTGCAAAAGTAATTGCGGTTTTCACAATTATACTTTTAATTGTGAAAACCGCAATTACTTTTGCACCAACCTAATATATCTGTGTTAATGTTGTCAGGGAAATGGGATTTCAGTGTTTTGCCTG... | GATGGCATATGCCCTACTAGCTGCAGTTCCTGTCGGATATGGTCTCTACTCTGCTTTTTTCCCTATCCTGACATACTTTATCTTTGGAACATCAAGACATATCTCAGTTGGTAATTATAAGTATATTTTACAATTATATTTGCTCATGTTTAAAGTGTTTTGGCTATATTAAGTGCATTATACCTCTATTAGGTTGGTGCAAAAGTAATTGCGGTTTTCACAATTATACTTTTAATTGTGAAAACCGCAATTACTTTTGCACCAACCTAATATATCTGTGTTAATGTTGTCAGGGAAATGGGATTTCAGTGTTTTGCCTG... |
Task1_train_11909 | Given this variant in gene SLC26A4 (solute carrier family 26 member 4) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | TAAAGTGTTTTGGCTATATTAAGTGCATTATACCTCTATTAGGTTGGTGCAAAAGTAATTGCGGTTTTCACAATTATACTTTTAATTGTGAAAACCGCAATTACTTTTGCACCAACCTAATATATCTGTGTTAATGTTGTCAGGGAAATGGGATTTCAGTGTTTTGCCTGCTTTTTCTATTCACTGATGTTAGGTAACTTTTTTAATGAAGTGGAAAAATAAAAAAACTGAAAATGACAGCCTACTTTAACATTTTAGCATGTTTTGCTTTTTAAAAACGTGATCAATTTGACTCCATTTTTGGAGTCATAATGACAGGG... | TAAAGTGTTTTGGCTATATTAAGTGCATTATACCTCTATTAGGTTGGTGCAAAAGTAATTGCGGTTTTCACAATTATACTTTTAATTGTGAAAACCGCAATTACTTTTGCACCAACCTAATATATCTGTGTTAATGTTGTCAGGGAAATGGGATTTCAGTGTTTTGCCTGCTTTTTCTATTCACTGATGTTAGGTAACTTTTTTAATGAAGTGGAAAAATAAAAAAACTGAAAATGACAGCCTACTTTAACATTTTAGCATGTTTTGCTTTTTAAAAACGTGATCAATTTGACTCCATTTTTGGAGTCATAATGACAGGG... |
Task1_train_11910 | This sequence variant lies in SLC26A4 (solute carrier family 26 member 4) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Pendred syndrome | TAAAGTGTTTTGGCTATATTAAGTGCATTATACCTCTATTAGGTTGGTGCAAAAGTAATTGCGGTTTTCACAATTATACTTTTAATTGTGAAAACCGCAATTACTTTTGCACCAACCTAATATATCTGTGTTAATGTTGTCAGGGAAATGGGATTTCAGTGTTTTGCCTGCTTTTTCTATTCACTGATGTTAGGTAACTTTTTTAATGAAGTGGAAAAATAAAAAAACTGAAAATGACAGCCTACTTTAACATTTTAGCATGTTTTGCTTTTTAAAAACGTGATCAATTTGACTCCATTTTTGGAGTCATAATGACAGGG... | TAAAGTGTTTTGGCTATATTAAGTGCATTATACCTCTATTAGGTTGGTGCAAAAGTAATTGCGGTTTTCACAATTATACTTTTAATTGTGAAAACCGCAATTACTTTTGCACCAACCTAATATATCTGTGTTAATGTTGTCAGGGAAATGGGATTTCAGTGTTTTGCCTGCTTTTTCTATTCACTGATGTTAGGTAACTTTTTTAATGAAGTGGAAAAATAAAAAAACTGAAAATGACAGCCTACTTTAACATTTTAGCATGTTTTGCTTTTTAAAAACGTGATCAATTTGACTCCATTTTTGGAGTCATAATGACAGGG... |
Task1_train_11911 | This sequence variant lies in SLC26A4 (solute carrier family 26 member 4) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | TAAAGTGTTTTGGCTATATTAAGTGCATTATACCTCTATTAGGTTGGTGCAAAAGTAATTGCGGTTTTCACAATTATACTTTTAATTGTGAAAACCGCAATTACTTTTGCACCAACCTAATATATCTGTGTTAATGTTGTCAGGGAAATGGGATTTCAGTGTTTTGCCTGCTTTTTCTATTCACTGATGTTAGGTAACTTTTTTAATGAAGTGGAAAAATAAAAAAACTGAAAATGACAGCCTACTTTAACATTTTAGCATGTTTTGCTTTTTAAAAACGTGATCAATTTGACTCCATTTTTGGAGTCATAATGACAGGG... | TAAAGTGTTTTGGCTATATTAAGTGCATTATACCTCTATTAGGTTGGTGCAAAAGTAATTGCGGTTTTCACAATTATACTTTTAATTGTGAAAACCGCAATTACTTTTGCACCAACCTAATATATCTGTGTTAATGTTGTCAGGGAAATGGGATTTCAGTGTTTTGCCTGCTTTTTCTATTCACTGATGTTAGGTAACTTTTTTAATGAAGTGGAAAAATAAAAAAACTGAAAATGACAGCCTACTTTAACATTTTAGCATGTTTTGCTTTTTAAAAACGTGATCAATTTGACTCCATTTTTGGAGTCATAATGACAGGG... |
Task1_train_11912 | A variant was discovered in gene SLC26A4 (solute carrier family 26 member 4), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Pendred syndrome | TAAAGTGTTTTGGCTATATTAAGTGCATTATACCTCTATTAGGTTGGTGCAAAAGTAATTGCGGTTTTCACAATTATACTTTTAATTGTGAAAACCGCAATTACTTTTGCACCAACCTAATATATCTGTGTTAATGTTGTCAGGGAAATGGGATTTCAGTGTTTTGCCTGCTTTTTCTATTCACTGATGTTAGGTAACTTTTTTAATGAAGTGGAAAAATAAAAAAACTGAAAATGACAGCCTACTTTAACATTTTAGCATGTTTTGCTTTTTAAAAACGTGATCAATTTGACTCCATTTTTGGAGTCATAATGACAGGG... | TAAAGTGTTTTGGCTATATTAAGTGCATTATACCTCTATTAGGTTGGTGCAAAAGTAATTGCGGTTTTCACAATTATACTTTTAATTGTGAAAACCGCAATTACTTTTGCACCAACCTAATATATCTGTGTTAATGTTGTCAGGGAAATGGGATTTCAGTGTTTTGCCTGCTTTTTCTATTCACTGATGTTAGGTAACTTTTTTAATGAAGTGGAAAAATAAAAAAACTGAAAATGACAGCCTACTTTAACATTTTAGCATGTTTTGCTTTTTAAAAACGTGATCAATTTGACTCCATTTTTGGAGTCATAATGACAGGG... |
Task1_train_11913 | Consider a variant on Chromosome 7 in gene SLC26A4 (solute carrier family 26 member 4). Determine its clinical classification and disease relevance. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | GGCTAGACATGTCTACCTCGATGATCCTCTTGAAATAAATGCAACCATCTACTTTATCCCCAACCCATGTTTTTGTCCTTAGTTGTATTTCCTTAGAAGGAGATCAGAAAGAGGTTTTGATTGAAAGAACTTCCACACCTTGGAGAATCAATCAGTGTTGAGTGCTTGACTAGATGAGGAACATGGAAGCTGGTTTTTCTCTTTGGTATTCTATACATTGAGATATTCCAGGTGACTGGGGTTGGGTTTTGAGACCTCAAAACCATAAAGCCTTCCATGATGAGAGGGTAGAATCATCATCATCGTCATGGATAAAAATA... | GGCTAGACATGTCTACCTCGATGATCCTCTTGAAATAAATGCAACCATCTACTTTATCCCCAACCCATGTTTTTGTCCTTAGTTGTATTTCCTTAGAAGGAGATCAGAAAGAGGTTTTGATTGAAAGAACTTCCACACCTTGGAGAATCAATCAGTGTTGAGTGCTTGACTAGATGAGGAACATGGAAGCTGGTTTTTCTCTTTGGTATTCTATACATTGAGATATTCCAGGTGACTGGGGTTGGGTTTTGAGACCTCAAAACCATAAAGCCTTCCATGATGAGAGGGTAGAATCATCATCATCGTCATGGATAAAAATA... |
Task1_train_11914 | This variant lies on Chromosome 7 and affects the gene SLC26A4 (solute carrier family 26 member 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Pendred syndrome | ATCCTCTTGAAATAAATGCAACCATCTACTTTATCCCCAACCCATGTTTTTGTCCTTAGTTGTATTTCCTTAGAAGGAGATCAGAAAGAGGTTTTGATTGAAAGAACTTCCACACCTTGGAGAATCAATCAGTGTTGAGTGCTTGACTAGATGAGGAACATGGAAGCTGGTTTTTCTCTTTGGTATTCTATACATTGAGATATTCCAGGTGACTGGGGTTGGGTTTTGAGACCTCAAAACCATAAAGCCTTCCATGATGAGAGGGTAGAATCATCATCATCGTCATGGATAAAAATAACAGTAGTGAACGGAGCAATTGC... | ATCCTCTTGAAATAAATGCAACCATCTACTTTATCCCCAACCCATGTTTTTGTCCTTAGTTGTATTTCCTTAGAAGGAGATCAGAAAGAGGTTTTGATTGAAAGAACTTCCACACCTTGGAGAATCAATCAGTGTTGAGTGCTTGACTAGATGAGGAACATGGAAGCTGGTTTTTCTCTTTGGTATTCTATACATTGAGATATTCCAGGTGACTGGGGTTGGGTTTTGAGACCTCAAAACCATAAAGCCTTCCATGATGAGAGGGTAGAATCATCATCATCGTCATGGATAAAAATAACAGTAGTGAACGGAGCAATTGC... |
Task1_train_11915 | Gene SLC26A4 (solute carrier family 26 member 4), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | CCCATGTTTTTGTCCTTAGTTGTATTTCCTTAGAAGGAGATCAGAAAGAGGTTTTGATTGAAAGAACTTCCACACCTTGGAGAATCAATCAGTGTTGAGTGCTTGACTAGATGAGGAACATGGAAGCTGGTTTTTCTCTTTGGTATTCTATACATTGAGATATTCCAGGTGACTGGGGTTGGGTTTTGAGACCTCAAAACCATAAAGCCTTCCATGATGAGAGGGTAGAATCATCATCATCGTCATGGATAAAAATAACAGTAGTGAACGGAGCAATTGCTGAAAAAAAAATATTTTTTAAAATATAAAATCTTACAGAT... | CCCATGTTTTTGTCCTTAGTTGTATTTCCTTAGAAGGAGATCAGAAAGAGGTTTTGATTGAAAGAACTTCCACACCTTGGAGAATCAATCAGTGTTGAGTGCTTGACTAGATGAGGAACATGGAAGCTGGTTTTTCTCTTTGGTATTCTATACATTGAGATATTCCAGGTGACTGGGGTTGGGTTTTGAGACCTCAAAACCATAAAGCCTTCCATGATGAGAGGGTAGAATCATCATCATCGTCATGGATAAAAATAACAGTAGTGAACGGAGCAATTGCTGAAAAAAAAATATTTTTTAAAATATAAAATCTTACAGAT... |
Task1_train_11916 | Given this variant in gene SLC26A4 (solute carrier family 26 member 4) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | GTTTTGATTGAAAGAACTTCCACACCTTGGAGAATCAATCAGTGTTGAGTGCTTGACTAGATGAGGAACATGGAAGCTGGTTTTTCTCTTTGGTATTCTATACATTGAGATATTCCAGGTGACTGGGGTTGGGTTTTGAGACCTCAAAACCATAAAGCCTTCCATGATGAGAGGGTAGAATCATCATCATCGTCATGGATAAAAATAACAGTAGTGAACGGAGCAATTGCTGAAAAAAAAATATTTTTTAAAATATAAAATCTTACAGATTGACATTTGATATGAAAAAATGTTTTGTCTTACAAAAAGAGAAAGAAACT... | GTTTTGATTGAAAGAACTTCCACACCTTGGAGAATCAATCAGTGTTGAGTGCTTGACTAGATGAGGAACATGGAAGCTGGTTTTTCTCTTTGGTATTCTATACATTGAGATATTCCAGGTGACTGGGGTTGGGTTTTGAGACCTCAAAACCATAAAGCCTTCCATGATGAGAGGGTAGAATCATCATCATCGTCATGGATAAAAATAACAGTAGTGAACGGAGCAATTGCTGAAAAAAAAATATTTTTTAAAATATAAAATCTTACAGATTGACATTTGATATGAAAAAATGTTTTGTCTTACAAAAAGAGAAAGAAACT... |
Task1_train_11917 | A genomic change on Chromosome 7 affects SLC26A4 (solute carrier family 26 member 4). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Pendred syndrome | GTTTTGATTGAAAGAACTTCCACACCTTGGAGAATCAATCAGTGTTGAGTGCTTGACTAGATGAGGAACATGGAAGCTGGTTTTTCTCTTTGGTATTCTATACATTGAGATATTCCAGGTGACTGGGGTTGGGTTTTGAGACCTCAAAACCATAAAGCCTTCCATGATGAGAGGGTAGAATCATCATCATCGTCATGGATAAAAATAACAGTAGTGAACGGAGCAATTGCTGAAAAAAAAATATTTTTTAAAATATAAAATCTTACAGATTGACATTTGATATGAAAAAATGTTTTGTCTTACAAAAAGAGAAAGAAACT... | GTTTTGATTGAAAGAACTTCCACACCTTGGAGAATCAATCAGTGTTGAGTGCTTGACTAGATGAGGAACATGGAAGCTGGTTTTTCTCTTTGGTATTCTATACATTGAGATATTCCAGGTGACTGGGGTTGGGTTTTGAGACCTCAAAACCATAAAGCCTTCCATGATGAGAGGGTAGAATCATCATCATCGTCATGGATAAAAATAACAGTAGTGAACGGAGCAATTGCTGAAAAAAAAATATTTTTTAAAATATAAAATCTTACAGATTGACATTTGATATGAAAAAATGTTTTGTCTTACAAAAAGAGAAAGAAACT... |
Task1_train_11918 | Here’s a variant in SLC26A4 (solute carrier family 26 member 4) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | AGAGCAAAAGTACCCTCTGAGTGAAAGTTCAAGAGTCTTCCTACAAGTTAAATGCCTGAACTCTAGTCCAAGTGTTTGGTGGGAGGTATTTTGCATGCATAATAGCTTCTCCCCCATTTCCTTACTCTTCTTGAATGTGTTCCAGAGAGCTGAGGTTGCTGGCAAAGTGACTCCTAGATTACTTAAGGTTCATTAAGTACTTAAAGTTCATTAAGCTCATACATAATTGTCACCAGATTATCATTATAATTATTTTAAAAGTAGTTTATCTGTGAAAATAAGTAAAATACATTTTATAAATGTTATAAACTATAAGATGC... | AGAGCAAAAGTACCCTCTGAGTGAAAGTTCAAGAGTCTTCCTACAAGTTAAATGCCTGAACTCTAGTCCAAGTGTTTGGTGGGAGGTATTTTGCATGCATAATAGCTTCTCCCCCATTTCCTTACTCTTCTTGAATGTGTTCCAGAGAGCTGAGGTTGCTGGCAAAGTGACTCCTAGATTACTTAAGGTTCATTAAGTACTTAAAGTTCATTAAGCTCATACATAATTGTCACCAGATTATCATTATAATTATTTTAAAAGTAGTTTATCTGTGAAAATAAGTAAAATACATTTTATAAATGTTATAAACTATAAGATGC... |
Task1_train_11919 | A sequence alteration has been identified in SLC26A4 (solute carrier family 26 member 4) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; not provided | CATTTTATAAATGTTATAAACTATAAGATGCTCCATTATTTTATCTTCCTATAAAATATGTCTATAAAAAAGCTCATTTAAAGAAAAGTTACCTTCACTGTGAGATTGTCTCAAAGAAATGTCTCAAAGATACCTTCTTAAATCCTGCCTTCTACAGGACTGAAGTTAATATAACAAAGATATTAGTGTTCTTCCTTGGGATTCTTCCTTGCTAATTTCCTTGAAAACACCCTTGATTCCCAGAAGTCTCCTATTTACAAAACAAAACTAGTTTTTCTTGAATTGATTCATCTGTCTACTTAAAGATTTTTTTTGGCCAG... | CATTTTATAAATGTTATAAACTATAAGATGCTCCATTATTTTATCTTCCTATAAAATATGTCTATAAAAAAGCTCATTTAAAGAAAAGTTACCTTCACTGTGAGATTGTCTCAAAGAAATGTCTCAAAGATACCTTCTTAAATCCTGCCTTCTACAGGACTGAAGTTAATATAACAAAGATATTAGTGTTCTTCCTTGGGATTCTTCCTTGCTAATTTCCTTGAAAACACCCTTGATTCCCAGAAGTCTCCTATTTACAAAACAAAACTAGTTTTTCTTGAATTGATTCATCTGTCTACTTAAAGATTTTTTTTGGCCAG... |
Task1_train_11920 | A variant was discovered in gene SLC26A4 (solute carrier family 26 member 4), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Pendred syndrome | GTTTGTGGAATTTTGGGCCCTTCAGGGTTCACTTCTCCCGGTCTTCATCTTTTCAGATAAGTGTGTGTTCACATGCTCACTCCCTTGGGCTCTTCATAGTGTTGTCTTATGATCAGGCCTGACATGCTTGGCTGGGGCCAAACAGGCCCACTGAGCAAAAAATTTGGAGAGTTATATCCACAGAAGGAGGGCAAGGGCAAGGGCAAGGACAAAAGGCTTACTTACAGGTCATTAGAAGATATCCAGACGGGACTTCAATTGGTTTGGGGCAAATAATTGGCACACTTAGGGTTCAGCAAGACAGCAGACATGAGTGGCAG... | GTTTGTGGAATTTTGGGCCCTTCAGGGTTCACTTCTCCCGGTCTTCATCTTTTCAGATAAGTGTGTGTTCACATGCTCACTCCCTTGGGCTCTTCATAGTGTTGTCTTATGATCAGGCCTGACATGCTTGGCTGGGGCCAAACAGGCCCACTGAGCAAAAAATTTGGAGAGTTATATCCACAGAAGGAGGGCAAGGGCAAGGGCAAGGACAAAAGGCTTACTTACAGGTCATTAGAAGATATCCAGACGGGACTTCAATTGGTTTGGGGCAAATAATTGGCACACTTAGGGTTCAGCAAGACAGCAGACATGAGTGGCAG... |
Task1_train_11921 | A mutation on Chromosome 7 affecting SLC26A4 (solute carrier family 26 member 4) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | TCACTTCTCCCGGTCTTCATCTTTTCAGATAAGTGTGTGTTCACATGCTCACTCCCTTGGGCTCTTCATAGTGTTGTCTTATGATCAGGCCTGACATGCTTGGCTGGGGCCAAACAGGCCCACTGAGCAAAAAATTTGGAGAGTTATATCCACAGAAGGAGGGCAAGGGCAAGGGCAAGGACAAAAGGCTTACTTACAGGTCATTAGAAGATATCCAGACGGGACTTCAATTGGTTTGGGGCAAATAATTGGCACACTTAGGGTTCAGCAAGACAGCAGACATGAGTGGCAGGAGTATGACAGACTTAGATTCTCCCAAT... | TCACTTCTCCCGGTCTTCATCTTTTCAGATAAGTGTGTGTTCACATGCTCACTCCCTTGGGCTCTTCATAGTGTTGTCTTATGATCAGGCCTGACATGCTTGGCTGGGGCCAAACAGGCCCACTGAGCAAAAAATTTGGAGAGTTATATCCACAGAAGGAGGGCAAGGGCAAGGGCAAGGACAAAAGGCTTACTTACAGGTCATTAGAAGATATCCAGACGGGACTTCAATTGGTTTGGGGCAAATAATTGGCACACTTAGGGTTCAGCAAGACAGCAGACATGAGTGGCAGGAGTATGACAGACTTAGATTCTCCCAAT... |
Task1_train_11922 | Given a variant located on Chromosome 7 and affecting SLC26A4 (solute carrier family 26 member 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | GCAAATCACTTCACGTTTCCAGGTCTAAGTTCCTTTATCAACAAGACAAGACAAGAGTGGTGGATTCAACAATACCTAGGATGCTTTCTCTATGGTTTTCTCTAAGAACCTTATTTCTATTTTATTTTTACCACTGTTCTCTAATTATAGGGGAAAATGTAGTTTCCTTATTAAAGAAACTTTAGGCATAAGTGATGTAGGTCGGGGAGACCTTTCATGGCTGGGGGCCTCTGGAATTATACCATATGGATAGTCATCAAGATATAGGTCCATCTCCCAAATTTTCATATTTGAGAGAACCTCGTGGTATAATGTGTAGG... | GCAAATCACTTCACGTTTCCAGGTCTAAGTTCCTTTATCAACAAGACAAGACAAGAGTGGTGGATTCAACAATACCTAGGATGCTTTCTCTATGGTTTTCTCTAAGAACCTTATTTCTATTTTATTTTTACCACTGTTCTCTAATTATAGGGGAAAATGTAGTTTCCTTATTAAAGAAACTTTAGGCATAAGTGATGTAGGTCGGGGAGACCTTTCATGGCTGGGGGCCTCTGGAATTATACCATATGGATAGTCATCAAGATATAGGTCCATCTCCCAAATTTTCATATTTGAGAGAACCTCGTGGTATAATGTGTAGG... |
Task1_train_11923 | The variant affects gene SLC26A4 (solute carrier family 26 member 4), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | AATCACTTCACGTTTCCAGGTCTAAGTTCCTTTATCAACAAGACAAGACAAGAGTGGTGGATTCAACAATACCTAGGATGCTTTCTCTATGGTTTTCTCTAAGAACCTTATTTCTATTTTATTTTTACCACTGTTCTCTAATTATAGGGGAAAATGTAGTTTCCTTATTAAAGAAACTTTAGGCATAAGTGATGTAGGTCGGGGAGACCTTTCATGGCTGGGGGCCTCTGGAATTATACCATATGGATAGTCATCAAGATATAGGTCCATCTCCCAAATTTTCATATTTGAGAGAACCTCGTGGTATAATGTGTAGGTTA... | AATCACTTCACGTTTCCAGGTCTAAGTTCCTTTATCAACAAGACAAGACAAGAGTGGTGGATTCAACAATACCTAGGATGCTTTCTCTATGGTTTTCTCTAAGAACCTTATTTCTATTTTATTTTTACCACTGTTCTCTAATTATAGGGGAAAATGTAGTTTCCTTATTAAAGAAACTTTAGGCATAAGTGATGTAGGTCGGGGAGACCTTTCATGGCTGGGGGCCTCTGGAATTATACCATATGGATAGTCATCAAGATATAGGTCCATCTCCCAAATTTTCATATTTGAGAGAACCTCGTGGTATAATGTGTAGGTTA... |
Task1_train_11924 | A change on Chromosome 7 affects gene SLC26A4 (solute carrier family 26 member 4). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Pendred syndrome | AATCACTTCACGTTTCCAGGTCTAAGTTCCTTTATCAACAAGACAAGACAAGAGTGGTGGATTCAACAATACCTAGGATGCTTTCTCTATGGTTTTCTCTAAGAACCTTATTTCTATTTTATTTTTACCACTGTTCTCTAATTATAGGGGAAAATGTAGTTTCCTTATTAAAGAAACTTTAGGCATAAGTGATGTAGGTCGGGGAGACCTTTCATGGCTGGGGGCCTCTGGAATTATACCATATGGATAGTCATCAAGATATAGGTCCATCTCCCAAATTTTCATATTTGAGAGAACCTCGTGGTATAATGTGTAGGTTA... | AATCACTTCACGTTTCCAGGTCTAAGTTCCTTTATCAACAAGACAAGACAAGAGTGGTGGATTCAACAATACCTAGGATGCTTTCTCTATGGTTTTCTCTAAGAACCTTATTTCTATTTTATTTTTACCACTGTTCTCTAATTATAGGGGAAAATGTAGTTTCCTTATTAAAGAAACTTTAGGCATAAGTGATGTAGGTCGGGGAGACCTTTCATGGCTGGGGGCCTCTGGAATTATACCATATGGATAGTCATCAAGATATAGGTCCATCTCCCAAATTTTCATATTTGAGAGAACCTCGTGGTATAATGTGTAGGTTA... |
Task1_train_11925 | This alteration in SLC26A4 (solute carrier family 26 member 4) on Chromosome 7 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | AATCACTTCACGTTTCCAGGTCTAAGTTCCTTTATCAACAAGACAAGACAAGAGTGGTGGATTCAACAATACCTAGGATGCTTTCTCTATGGTTTTCTCTAAGAACCTTATTTCTATTTTATTTTTACCACTGTTCTCTAATTATAGGGGAAAATGTAGTTTCCTTATTAAAGAAACTTTAGGCATAAGTGATGTAGGTCGGGGAGACCTTTCATGGCTGGGGGCCTCTGGAATTATACCATATGGATAGTCATCAAGATATAGGTCCATCTCCCAAATTTTCATATTTGAGAGAACCTCGTGGTATAATGTGTAGGTTA... | AATCACTTCACGTTTCCAGGTCTAAGTTCCTTTATCAACAAGACAAGACAAGAGTGGTGGATTCAACAATACCTAGGATGCTTTCTCTATGGTTTTCTCTAAGAACCTTATTTCTATTTTATTTTTACCACTGTTCTCTAATTATAGGGGAAAATGTAGTTTCCTTATTAAAGAAACTTTAGGCATAAGTGATGTAGGTCGGGGAGACCTTTCATGGCTGGGGGCCTCTGGAATTATACCATATGGATAGTCATCAAGATATAGGTCCATCTCCCAAATTTTCATATTTGAGAGAACCTCGTGGTATAATGTGTAGGTTA... |
Task1_train_11926 | Given a variant located on Chromosome 7 and affecting SLC26A4 (solute carrier family 26 member 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Pendred syndrome | TTTATCAACAAGACAAGACAAGAGTGGTGGATTCAACAATACCTAGGATGCTTTCTCTATGGTTTTCTCTAAGAACCTTATTTCTATTTTATTTTTACCACTGTTCTCTAATTATAGGGGAAAATGTAGTTTCCTTATTAAAGAAACTTTAGGCATAAGTGATGTAGGTCGGGGAGACCTTTCATGGCTGGGGGCCTCTGGAATTATACCATATGGATAGTCATCAAGATATAGGTCCATCTCCCAAATTTTCATATTTGAGAGAACCTCGTGGTATAATGTGTAGGTTAATTTTTTTATATGGTTTGTAGGGTAGCTCT... | TTTATCAACAAGACAAGACAAGAGTGGTGGATTCAACAATACCTAGGATGCTTTCTCTATGGTTTTCTCTAAGAACCTTATTTCTATTTTATTTTTACCACTGTTCTCTAATTATAGGGGAAAATGTAGTTTCCTTATTAAAGAAACTTTAGGCATAAGTGATGTAGGTCGGGGAGACCTTTCATGGCTGGGGGCCTCTGGAATTATACCATATGGATAGTCATCAAGATATAGGTCCATCTCCCAAATTTTCATATTTGAGAGAACCTCGTGGTATAATGTGTAGGTTAATTTTTTTATATGGTTTGTAGGGTAGCTCT... |
Task1_train_11927 | The variant affects gene SLC26A4 (solute carrier family 26 member 4), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Pendred syndrome | GGTGGATTCAACAATACCTAGGATGCTTTCTCTATGGTTTTCTCTAAGAACCTTATTTCTATTTTATTTTTACCACTGTTCTCTAATTATAGGGGAAAATGTAGTTTCCTTATTAAAGAAACTTTAGGCATAAGTGATGTAGGTCGGGGAGACCTTTCATGGCTGGGGGCCTCTGGAATTATACCATATGGATAGTCATCAAGATATAGGTCCATCTCCCAAATTTTCATATTTGAGAGAACCTCGTGGTATAATGTGTAGGTTAATTTTTTTATATGGTTTGTAGGGTAGCTCTGGTTTTGTCAAACAGTAGTCATTGG... | GGTGGATTCAACAATACCTAGGATGCTTTCTCTATGGTTTTCTCTAAGAACCTTATTTCTATTTTATTTTTACCACTGTTCTCTAATTATAGGGGAAAATGTAGTTTCCTTATTAAAGAAACTTTAGGCATAAGTGATGTAGGTCGGGGAGACCTTTCATGGCTGGGGGCCTCTGGAATTATACCATATGGATAGTCATCAAGATATAGGTCCATCTCCCAAATTTTCATATTTGAGAGAACCTCGTGGTATAATGTGTAGGTTAATTTTTTTATATGGTTTGTAGGGTAGCTCTGGTTTTGTCAAACAGTAGTCATTGG... |
Task1_train_11928 | This mutation is located in gene SLC26A4 (solute carrier family 26 member 4) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | ATGGTTTTCTCTAAGAACCTTATTTCTATTTTATTTTTACCACTGTTCTCTAATTATAGGGGAAAATGTAGTTTCCTTATTAAAGAAACTTTAGGCATAAGTGATGTAGGTCGGGGAGACCTTTCATGGCTGGGGGCCTCTGGAATTATACCATATGGATAGTCATCAAGATATAGGTCCATCTCCCAAATTTTCATATTTGAGAGAACCTCGTGGTATAATGTGTAGGTTAATTTTTTTATATGGTTTGTAGGGTAGCTCTGGTTTTGTCAAACAGTAGTCATTGGACCCCACAATCACTGAGATATTTTAGTCACTAT... | ATGGTTTTCTCTAAGAACCTTATTTCTATTTTATTTTTACCACTGTTCTCTAATTATAGGGGAAAATGTAGTTTCCTTATTAAAGAAACTTTAGGCATAAGTGATGTAGGTCGGGGAGACCTTTCATGGCTGGGGGCCTCTGGAATTATACCATATGGATAGTCATCAAGATATAGGTCCATCTCCCAAATTTTCATATTTGAGAGAACCTCGTGGTATAATGTGTAGGTTAATTTTTTTATATGGTTTGTAGGGTAGCTCTGGTTTTGTCAAACAGTAGTCATTGGACCCCACAATCACTGAGATATTTTAGTCACTAT... |
Task1_train_11929 | A variant was discovered in gene SLC26A4 (solute carrier family 26 member 4), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | ATCCATTTCACAGGGATATTGTGAGGATTAGGCAAGAAAATGTAAAGCCTTAGCACATACTTGTAAATGCTCATTGTTTCACTCCTTTAGGCAAGAATAGCATCTTAGCATCTATGATACATATATTGTGCCTGGCACATAAGAAGCACCTGGCATATATTTGCTGAATGAATGAATGGAAGAATGAGTATTGGTGGACACGAACTGTTTTTAGCACATCTACAGATTGTAGAAGAATTAAACATTGGAACCTTTTCTTTCCCTCACCCCCATCTGACTTCCACTGACTCACAGAAAAGTAATTCTGATTACAAACCACT... | ATCCATTTCACAGGGATATTGTGAGGATTAGGCAAGAAAATGTAAAGCCTTAGCACATACTTGTAAATGCTCATTGTTTCACTCCTTTAGGCAAGAATAGCATCTTAGCATCTATGATACATATATTGTGCCTGGCACATAAGAAGCACCTGGCATATATTTGCTGAATGAATGAATGGAAGAATGAGTATTGGTGGACACGAACTGTTTTTAGCACATCTACAGATTGTAGAAGAATTAAACATTGGAACCTTTTCTTTCCCTCACCCCCATCTGACTTCCACTGACTCACAGAAAAGTAATTCTGATTACAAACCACT... |
Task1_train_11930 | A mutation on Chromosome 7 affecting SLC26A4 (solute carrier family 26 member 4) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Pendred syndrome | TCACAGGGATATTGTGAGGATTAGGCAAGAAAATGTAAAGCCTTAGCACATACTTGTAAATGCTCATTGTTTCACTCCTTTAGGCAAGAATAGCATCTTAGCATCTATGATACATATATTGTGCCTGGCACATAAGAAGCACCTGGCATATATTTGCTGAATGAATGAATGGAAGAATGAGTATTGGTGGACACGAACTGTTTTTAGCACATCTACAGATTGTAGAAGAATTAAACATTGGAACCTTTTCTTTCCCTCACCCCCATCTGACTTCCACTGACTCACAGAAAAGTAATTCTGATTACAAACCACTCTTTAGC... | TCACAGGGATATTGTGAGGATTAGGCAAGAAAATGTAAAGCCTTAGCACATACTTGTAAATGCTCATTGTTTCACTCCTTTAGGCAAGAATAGCATCTTAGCATCTATGATACATATATTGTGCCTGGCACATAAGAAGCACCTGGCATATATTTGCTGAATGAATGAATGGAAGAATGAGTATTGGTGGACACGAACTGTTTTTAGCACATCTACAGATTGTAGAAGAATTAAACATTGGAACCTTTTCTTTCCCTCACCCCCATCTGACTTCCACTGACTCACAGAAAAGTAATTCTGATTACAAACCACTCTTTAGC... |
Task1_train_11931 | Mutation context: Chromosome 7, Gene SLC26A4 (solute carrier family 26 member 4). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | TCACAGGGATATTGTGAGGATTAGGCAAGAAAATGTAAAGCCTTAGCACATACTTGTAAATGCTCATTGTTTCACTCCTTTAGGCAAGAATAGCATCTTAGCATCTATGATACATATATTGTGCCTGGCACATAAGAAGCACCTGGCATATATTTGCTGAATGAATGAATGGAAGAATGAGTATTGGTGGACACGAACTGTTTTTAGCACATCTACAGATTGTAGAAGAATTAAACATTGGAACCTTTTCTTTCCCTCACCCCCATCTGACTTCCACTGACTCACAGAAAAGTAATTCTGATTACAAACCACTCTTTAGC... | TCACAGGGATATTGTGAGGATTAGGCAAGAAAATGTAAAGCCTTAGCACATACTTGTAAATGCTCATTGTTTCACTCCTTTAGGCAAGAATAGCATCTTAGCATCTATGATACATATATTGTGCCTGGCACATAAGAAGCACCTGGCATATATTTGCTGAATGAATGAATGGAAGAATGAGTATTGGTGGACACGAACTGTTTTTAGCACATCTACAGATTGTAGAAGAATTAAACATTGGAACCTTTTCTTTCCCTCACCCCCATCTGACTTCCACTGACTCACAGAAAAGTAATTCTGATTACAAACCACTCTTTAGC... |
Task1_train_11932 | A genetic alteration is present in SLC26A4 (solute carrier family 26 member 4) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Rare genetic deafness | TCACAGGGATATTGTGAGGATTAGGCAAGAAAATGTAAAGCCTTAGCACATACTTGTAAATGCTCATTGTTTCACTCCTTTAGGCAAGAATAGCATCTTAGCATCTATGATACATATATTGTGCCTGGCACATAAGAAGCACCTGGCATATATTTGCTGAATGAATGAATGGAAGAATGAGTATTGGTGGACACGAACTGTTTTTAGCACATCTACAGATTGTAGAAGAATTAAACATTGGAACCTTTTCTTTCCCTCACCCCCATCTGACTTCCACTGACTCACAGAAAAGTAATTCTGATTACAAACCACTCTTTAGC... | TCACAGGGATATTGTGAGGATTAGGCAAGAAAATGTAAAGCCTTAGCACATACTTGTAAATGCTCATTGTTTCACTCCTTTAGGCAAGAATAGCATCTTAGCATCTATGATACATATATTGTGCCTGGCACATAAGAAGCACCTGGCATATATTTGCTGAATGAATGAATGGAAGAATGAGTATTGGTGGACACGAACTGTTTTTAGCACATCTACAGATTGTAGAAGAATTAAACATTGGAACCTTTTCTTTCCCTCACCCCCATCTGACTTCCACTGACTCACAGAAAAGTAATTCTGATTACAAACCACTCTTTAGC... |
Task1_train_11933 | A variant was discovered on Chromosome 7, affecting SLC26A4 (solute carrier family 26 member 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | TCACAGGGATATTGTGAGGATTAGGCAAGAAAATGTAAAGCCTTAGCACATACTTGTAAATGCTCATTGTTTCACTCCTTTAGGCAAGAATAGCATCTTAGCATCTATGATACATATATTGTGCCTGGCACATAAGAAGCACCTGGCATATATTTGCTGAATGAATGAATGGAAGAATGAGTATTGGTGGACACGAACTGTTTTTAGCACATCTACAGATTGTAGAAGAATTAAACATTGGAACCTTTTCTTTCCCTCACCCCCATCTGACTTCCACTGACTCACAGAAAAGTAATTCTGATTACAAACCACTCTTTAGC... | TCACAGGGATATTGTGAGGATTAGGCAAGAAAATGTAAAGCCTTAGCACATACTTGTAAATGCTCATTGTTTCACTCCTTTAGGCAAGAATAGCATCTTAGCATCTATGATACATATATTGTGCCTGGCACATAAGAAGCACCTGGCATATATTTGCTGAATGAATGAATGGAAGAATGAGTATTGGTGGACACGAACTGTTTTTAGCACATCTACAGATTGTAGAAGAATTAAACATTGGAACCTTTTCTTTCCCTCACCCCCATCTGACTTCCACTGACTCACAGAAAAGTAATTCTGATTACAAACCACTCTTTAGC... |
Task1_train_11934 | Here is a genetic alteration in SLC26A4 (solute carrier family 26 member 4) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Pendred syndrome | TCACAGGGATATTGTGAGGATTAGGCAAGAAAATGTAAAGCCTTAGCACATACTTGTAAATGCTCATTGTTTCACTCCTTTAGGCAAGAATAGCATCTTAGCATCTATGATACATATATTGTGCCTGGCACATAAGAAGCACCTGGCATATATTTGCTGAATGAATGAATGGAAGAATGAGTATTGGTGGACACGAACTGTTTTTAGCACATCTACAGATTGTAGAAGAATTAAACATTGGAACCTTTTCTTTCCCTCACCCCCATCTGACTTCCACTGACTCACAGAAAAGTAATTCTGATTACAAACCACTCTTTAGC... | TCACAGGGATATTGTGAGGATTAGGCAAGAAAATGTAAAGCCTTAGCACATACTTGTAAATGCTCATTGTTTCACTCCTTTAGGCAAGAATAGCATCTTAGCATCTATGATACATATATTGTGCCTGGCACATAAGAAGCACCTGGCATATATTTGCTGAATGAATGAATGGAAGAATGAGTATTGGTGGACACGAACTGTTTTTAGCACATCTACAGATTGTAGAAGAATTAAACATTGGAACCTTTTCTTTCCCTCACCCCCATCTGACTTCCACTGACTCACAGAAAAGTAATTCTGATTACAAACCACTCTTTAGC... |
Task1_train_11935 | Assess the clinical impact of this variant on gene SLC26A4 (solute carrier family 26 member 4), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | AATGAGTATTGGTGGACACGAACTGTTTTTAGCACATCTACAGATTGTAGAAGAATTAAACATTGGAACCTTTTCTTTCCCTCACCCCCATCTGACTTCCACTGACTCACAGAAAAGTAATTCTGATTACAAACCACTCTTTAGCTCTGATTACCCCCTCCCTTAACAGAATAATTTTTTAGTAACTGAATCTGGTTGTAGATATAAAGTCTACAGAGTTTCTCACAAACAAGCCTTATCAAGTAAGTAGAAATAATTGATCACTCACCAATTTTAATATAGTGGCCAAAATGAGCCTTGGCCTCCCATAATTGGAGACT... | AATGAGTATTGGTGGACACGAACTGTTTTTAGCACATCTACAGATTGTAGAAGAATTAAACATTGGAACCTTTTCTTTCCCTCACCCCCATCTGACTTCCACTGACTCACAGAAAAGTAATTCTGATTACAAACCACTCTTTAGCTCTGATTACCCCCTCCCTTAACAGAATAATTTTTTAGTAACTGAATCTGGTTGTAGATATAAAGTCTACAGAGTTTCTCACAAACAAGCCTTATCAAGTAAGTAGAAATAATTGATCACTCACCAATTTTAATATAGTGGCCAAAATGAGCCTTGGCCTCCCATAATTGGAGACT... |
Task1_train_11936 | Located on Chromosome 7, this mutation impacts SLC26A4 (solute carrier family 26 member 4). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Pendred syndrome | TGCCATGAGAATTTATTTCCCAAGAATACGACAATGATCTCTGTTGTTGGGAAAGGGGGGATTGGTCCATGTTTCCTGCCATGGTAAATAACTAGAAGCTTGGCCTGAATGGACGCCGAAACCGCAGGTGTGTACTATCACCAAATAAAATCCCTGTCAAACTGGCTTTAATTTCATAGGATCAGTCCCCATATTTTCTTTAACTTCTCTGCCATAGCATATATAGATGCCATTTTTGTTCAGTTTTGTGGCTTGAGCAAATAACTATCACTTTTCTCGACAGTATTGAGCAGAAGGGGGAGACAGGGAAGTATGAAGTG... | TGCCATGAGAATTTATTTCCCAAGAATACGACAATGATCTCTGTTGTTGGGAAAGGGGGGATTGGTCCATGTTTCCTGCCATGGTAAATAACTAGAAGCTTGGCCTGAATGGACGCCGAAACCGCAGGTGTGTACTATCACCAAATAAAATCCCTGTCAAACTGGCTTTAATTTCATAGGATCAGTCCCCATATTTTCTTTAACTTCTCTGCCATAGCATATATAGATGCCATTTTTGTTCAGTTTTGTGGCTTGAGCAAATAACTATCACTTTTCTCGACAGTATTGAGCAGAAGGGGGAGACAGGGAAGTATGAAGTG... |
Task1_train_11937 | This variant lies on Chromosome 7 and affects the gene SLC26A4 (solute carrier family 26 member 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | TGCCATGAGAATTTATTTCCCAAGAATACGACAATGATCTCTGTTGTTGGGAAAGGGGGGATTGGTCCATGTTTCCTGCCATGGTAAATAACTAGAAGCTTGGCCTGAATGGACGCCGAAACCGCAGGTGTGTACTATCACCAAATAAAATCCCTGTCAAACTGGCTTTAATTTCATAGGATCAGTCCCCATATTTTCTTTAACTTCTCTGCCATAGCATATATAGATGCCATTTTTGTTCAGTTTTGTGGCTTGAGCAAATAACTATCACTTTTCTCGACAGTATTGAGCAGAAGGGGGAGACAGGGAAGTATGAAGTG... | TGCCATGAGAATTTATTTCCCAAGAATACGACAATGATCTCTGTTGTTGGGAAAGGGGGGATTGGTCCATGTTTCCTGCCATGGTAAATAACTAGAAGCTTGGCCTGAATGGACGCCGAAACCGCAGGTGTGTACTATCACCAAATAAAATCCCTGTCAAACTGGCTTTAATTTCATAGGATCAGTCCCCATATTTTCTTTAACTTCTCTGCCATAGCATATATAGATGCCATTTTTGTTCAGTTTTGTGGCTTGAGCAAATAACTATCACTTTTCTCGACAGTATTGAGCAGAAGGGGGAGACAGGGAAGTATGAAGTG... |
Task1_train_11938 | Consider a variant on Chromosome 7 in gene SLC26A4 (solute carrier family 26 member 4). Determine its clinical classification and disease relevance. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | GCCATGAGAATTTATTTCCCAAGAATACGACAATGATCTCTGTTGTTGGGAAAGGGGGGATTGGTCCATGTTTCCTGCCATGGTAAATAACTAGAAGCTTGGCCTGAATGGACGCCGAAACCGCAGGTGTGTACTATCACCAAATAAAATCCCTGTCAAACTGGCTTTAATTTCATAGGATCAGTCCCCATATTTTCTTTAACTTCTCTGCCATAGCATATATAGATGCCATTTTTGTTCAGTTTTGTGGCTTGAGCAAATAACTATCACTTTTCTCGACAGTATTGAGCAGAAGGGGGAGACAGGGAAGTATGAAGTGT... | GCCATGAGAATTTATTTCCCAAGAATACGACAATGATCTCTGTTGTTGGGAAAGGGGGGATTGGTCCATGTTTCCTGCCATGGTAAATAACTAGAAGCTTGGCCTGAATGGACGCCGAAACCGCAGGTGTGTACTATCACCAAATAAAATCCCTGTCAAACTGGCTTTAATTTCATAGGATCAGTCCCCATATTTTCTTTAACTTCTCTGCCATAGCATATATAGATGCCATTTTTGTTCAGTTTTGTGGCTTGAGCAAATAACTATCACTTTTCTCGACAGTATTGAGCAGAAGGGGGAGACAGGGAAGTATGAAGTGT... |
Task1_train_11939 | A variant on Chromosome 7 in gene SLC26A4 (solute carrier family 26 member 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Pendred syndrome | GCCATGAGAATTTATTTCCCAAGAATACGACAATGATCTCTGTTGTTGGGAAAGGGGGGATTGGTCCATGTTTCCTGCCATGGTAAATAACTAGAAGCTTGGCCTGAATGGACGCCGAAACCGCAGGTGTGTACTATCACCAAATAAAATCCCTGTCAAACTGGCTTTAATTTCATAGGATCAGTCCCCATATTTTCTTTAACTTCTCTGCCATAGCATATATAGATGCCATTTTTGTTCAGTTTTGTGGCTTGAGCAAATAACTATCACTTTTCTCGACAGTATTGAGCAGAAGGGGGAGACAGGGAAGTATGAAGTGT... | GCCATGAGAATTTATTTCCCAAGAATACGACAATGATCTCTGTTGTTGGGAAAGGGGGGATTGGTCCATGTTTCCTGCCATGGTAAATAACTAGAAGCTTGGCCTGAATGGACGCCGAAACCGCAGGTGTGTACTATCACCAAATAAAATCCCTGTCAAACTGGCTTTAATTTCATAGGATCAGTCCCCATATTTTCTTTAACTTCTCTGCCATAGCATATATAGATGCCATTTTTGTTCAGTTTTGTGGCTTGAGCAAATAACTATCACTTTTCTCGACAGTATTGAGCAGAAGGGGGAGACAGGGAAGTATGAAGTGT... |
Task1_train_11940 | Gene SLC26A4 (solute carrier family 26 member 4) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | GCCATGAGAATTTATTTCCCAAGAATACGACAATGATCTCTGTTGTTGGGAAAGGGGGGATTGGTCCATGTTTCCTGCCATGGTAAATAACTAGAAGCTTGGCCTGAATGGACGCCGAAACCGCAGGTGTGTACTATCACCAAATAAAATCCCTGTCAAACTGGCTTTAATTTCATAGGATCAGTCCCCATATTTTCTTTAACTTCTCTGCCATAGCATATATAGATGCCATTTTTGTTCAGTTTTGTGGCTTGAGCAAATAACTATCACTTTTCTCGACAGTATTGAGCAGAAGGGGGAGACAGGGAAGTATGAAGTGT... | GCCATGAGAATTTATTTCCCAAGAATACGACAATGATCTCTGTTGTTGGGAAAGGGGGGATTGGTCCATGTTTCCTGCCATGGTAAATAACTAGAAGCTTGGCCTGAATGGACGCCGAAACCGCAGGTGTGTACTATCACCAAATAAAATCCCTGTCAAACTGGCTTTAATTTCATAGGATCAGTCCCCATATTTTCTTTAACTTCTCTGCCATAGCATATATAGATGCCATTTTTGTTCAGTTTTGTGGCTTGAGCAAATAACTATCACTTTTCTCGACAGTATTGAGCAGAAGGGGGAGACAGGGAAGTATGAAGTGT... |
Task1_train_11941 | This alteration occurs within gene SLC26A4 (solute carrier family 26 member 4) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Pendred syndrome | GCCATGAGAATTTATTTCCCAAGAATACGACAATGATCTCTGTTGTTGGGAAAGGGGGGATTGGTCCATGTTTCCTGCCATGGTAAATAACTAGAAGCTTGGCCTGAATGGACGCCGAAACCGCAGGTGTGTACTATCACCAAATAAAATCCCTGTCAAACTGGCTTTAATTTCATAGGATCAGTCCCCATATTTTCTTTAACTTCTCTGCCATAGCATATATAGATGCCATTTTTGTTCAGTTTTGTGGCTTGAGCAAATAACTATCACTTTTCTCGACAGTATTGAGCAGAAGGGGGAGACAGGGAAGTATGAAGTGT... | GCCATGAGAATTTATTTCCCAAGAATACGACAATGATCTCTGTTGTTGGGAAAGGGGGGATTGGTCCATGTTTCCTGCCATGGTAAATAACTAGAAGCTTGGCCTGAATGGACGCCGAAACCGCAGGTGTGTACTATCACCAAATAAAATCCCTGTCAAACTGGCTTTAATTTCATAGGATCAGTCCCCATATTTTCTTTAACTTCTCTGCCATAGCATATATAGATGCCATTTTTGTTCAGTTTTGTGGCTTGAGCAAATAACTATCACTTTTCTCGACAGTATTGAGCAGAAGGGGGAGACAGGGAAGTATGAAGTGT... |
Task1_train_11942 | This variant lies on Chromosome 7 and affects the gene SLC26A4 (solute carrier family 26 member 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not specified | GCCATGAGAATTTATTTCCCAAGAATACGACAATGATCTCTGTTGTTGGGAAAGGGGGGATTGGTCCATGTTTCCTGCCATGGTAAATAACTAGAAGCTTGGCCTGAATGGACGCCGAAACCGCAGGTGTGTACTATCACCAAATAAAATCCCTGTCAAACTGGCTTTAATTTCATAGGATCAGTCCCCATATTTTCTTTAACTTCTCTGCCATAGCATATATAGATGCCATTTTTGTTCAGTTTTGTGGCTTGAGCAAATAACTATCACTTTTCTCGACAGTATTGAGCAGAAGGGGGAGACAGGGAAGTATGAAGTGT... | GCCATGAGAATTTATTTCCCAAGAATACGACAATGATCTCTGTTGTTGGGAAAGGGGGGATTGGTCCATGTTTCCTGCCATGGTAAATAACTAGAAGCTTGGCCTGAATGGACGCCGAAACCGCAGGTGTGTACTATCACCAAATAAAATCCCTGTCAAACTGGCTTTAATTTCATAGGATCAGTCCCCATATTTTCTTTAACTTCTCTGCCATAGCATATATAGATGCCATTTTTGTTCAGTTTTGTGGCTTGAGCAAATAACTATCACTTTTCTCGACAGTATTGAGCAGAAGGGGGAGACAGGGAAGTATGAAGTGT... |
Task1_train_11943 | This variant lies on Chromosome 7 and affects the gene SLC26A4 (solute carrier family 26 member 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | AGTAACGTAAAACCCAGATTTCCTATAAACAGAACAACACACTCTGAGCTTCCTTATACCATTTTGATAAATATAGTGAAGCCACTTTCTTTCGTTATAGTTACTGTATATTGAGTGCTTCTATGCATTAAGCAGACAGTGTTTTACAGACATACTTAATCTTCAAAAATAGCCTATGAATAGTTTTGATTAGTCTCATTCTACAGGTGAGAAAAGAGAAATTCAGAAAAGCTAAGAAGCATCCCTAAGATCACACAGCTAGTACGTGGCAGAGCTAAGATTTGAACCTATGTACCTACTCATGTCCTCTACTGCTGTGC... | AGTAACGTAAAACCCAGATTTCCTATAAACAGAACAACACACTCTGAGCTTCCTTATACCATTTTGATAAATATAGTGAAGCCACTTTCTTTCGTTATAGTTACTGTATATTGAGTGCTTCTATGCATTAAGCAGACAGTGTTTTACAGACATACTTAATCTTCAAAAATAGCCTATGAATAGTTTTGATTAGTCTCATTCTACAGGTGAGAAAAGAGAAATTCAGAAAAGCTAAGAAGCATCCCTAAGATCACACAGCTAGTACGTGGCAGAGCTAAGATTTGAACCTATGTACCTACTCATGTCCTCTACTGCTGTGC... |
Task1_train_11944 | This gene mutation involves SLC26A4 (solute carrier family 26 member 4) on Chromosome 7. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | TACCAAGAATTACAAAAACGTAAGTACCTTTGTGAGACATTTGCTGGACTTGGGTTTACTAGCCTGAAGTTTCAGCAGCTCCATTTTACGTACAAGGTAGCCAAAGGGAGAAAATGCCTATTGGGAAAGTCTGTTAGTCCACAGGGAGTGTCATGAAAACTTTTGATCCAGTGCACCTTCTGACACCCATGGCTTATGTGAATTTTGTCTATGCTAGCTGAATGTCTTTTTTTTTTTTTCTTTTTAGATGGAGTCTCACTCTTCACCCAGGCTGGAGTGCAGAGGCAGGATCTCAGCTCACTGCAACCTCTGCCTCCTGG... | TACCAAGAATTACAAAAACGTAAGTACCTTTGTGAGACATTTGCTGGACTTGGGTTTACTAGCCTGAAGTTTCAGCAGCTCCATTTTACGTACAAGGTAGCCAAAGGGAGAAAATGCCTATTGGGAAAGTCTGTTAGTCCACAGGGAGTGTCATGAAAACTTTTGATCCAGTGCACCTTCTGACACCCATGGCTTATGTGAATTTTGTCTATGCTAGCTGAATGTCTTTTTTTTTTTTTCTTTTTAGATGGAGTCTCACTCTTCACCCAGGCTGGAGTGCAGAGGCAGGATCTCAGCTCACTGCAACCTCTGCCTCCTGG... |
Task1_train_11945 | This mutation occurs in SLC26A4 (solute carrier family 26 member 4) on Chromosome 7. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Pendred syndrome | GGGATTTCAGTAGCTGCTACTTAATTTATTTCCGTGATCTTTCTGTTATGTTGAGCCAAGTGCCATTAAGAGCTAAAATGATTTAGAGATTTTTTTGGCTTTGGGGAGGGAGCTCTAAGCTGAGTTAGGGAATTCTGACTTCTAGGCTCCATCTTGGTGAGACTTTGCCCAAGTCATTCAGCCTCTCAGGACCTCAGTTTTCTCATCTGAAGCAGCTAGACTAAAATTGCTGATTCCTGAAGACTAGAAAAGTCTATGATTCTGTGATTCCTGGGTTCTATTTTGGGTGTGGCCATTGTATGTCAGGGTGAGAACAGATG... | GGGATTTCAGTAGCTGCTACTTAATTTATTTCCGTGATCTTTCTGTTATGTTGAGCCAAGTGCCATTAAGAGCTAAAATGATTTAGAGATTTTTTTGGCTTTGGGGAGGGAGCTCTAAGCTGAGTTAGGGAATTCTGACTTCTAGGCTCCATCTTGGTGAGACTTTGCCCAAGTCATTCAGCCTCTCAGGACCTCAGTTTTCTCATCTGAAGCAGCTAGACTAAAATTGCTGATTCCTGAAGACTAGAAAAGTCTATGATTCTGTGATTCCTGGGTTCTATTTTGGGTGTGGCCATTGTATGTCAGGGTGAGAACAGATG... |
Task1_train_11946 | A mutation found in SLC26A4 (solute carrier family 26 member 4) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Pendred syndrome | TGAGTGCTGCTACCCAGCTCCTCTGAGCAACTGTGACTTGACTCCTTGCTAAGTAGCCAGAAATGTAATTAAATACTTGAGGCTTGAAATTATTTAATCCCAGACAATTTCTTTTAATGCCAGATTGAAGAACCTCAAGGAGTGAAGATTCTTAGATTTTCCAGTCCTATTTTCTATGGCAATGTCGATGGTTTTAAAAAATGTATCAAGTCCACAGTAAGTATTTTATCCCTAGAAATTTGTTTTCTAACCTCTTTTGAGACTTCATTCATTCTACAAGTATTTACTGGGGTCCAATCAGGAATAGGCCCTAGACCCTC... | TGAGTGCTGCTACCCAGCTCCTCTGAGCAACTGTGACTTGACTCCTTGCTAAGTAGCCAGAAATGTAATTAAATACTTGAGGCTTGAAATTATTTAATCCCAGACAATTTCTTTTAATGCCAGATTGAAGAACCTCAAGGAGTGAAGATTCTTAGATTTTCCAGTCCTATTTTCTATGGCAATGTCGATGGTTTTAAAAAATGTATCAAGTCCACAGTAAGTATTTTATCCCTAGAAATTTGTTTTCTAACCTCTTTTGAGACTTCATTCATTCTACAAGTATTTACTGGGGTCCAATCAGGAATAGGCCCTAGACCCTC... |
Task1_train_11947 | This variant lies on Chromosome 7 and affects the gene SLC26A4 (solute carrier family 26 member 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Pendred syndrome | AGCTCCTCTGAGCAACTGTGACTTGACTCCTTGCTAAGTAGCCAGAAATGTAATTAAATACTTGAGGCTTGAAATTATTTAATCCCAGACAATTTCTTTTAATGCCAGATTGAAGAACCTCAAGGAGTGAAGATTCTTAGATTTTCCAGTCCTATTTTCTATGGCAATGTCGATGGTTTTAAAAAATGTATCAAGTCCACAGTAAGTATTTTATCCCTAGAAATTTGTTTTCTAACCTCTTTTGAGACTTCATTCATTCTACAAGTATTTACTGGGGTCCAATCAGGAATAGGCCCTAGACCCTCTTCCCTTTGTGTAGG... | AGCTCCTCTGAGCAACTGTGACTTGACTCCTTGCTAAGTAGCCAGAAATGTAATTAAATACTTGAGGCTTGAAATTATTTAATCCCAGACAATTTCTTTTAATGCCAGATTGAAGAACCTCAAGGAGTGAAGATTCTTAGATTTTCCAGTCCTATTTTCTATGGCAATGTCGATGGTTTTAAAAAATGTATCAAGTCCACAGTAAGTATTTTATCCCTAGAAATTTGTTTTCTAACCTCTTTTGAGACTTCATTCATTCTACAAGTATTTACTGGGGTCCAATCAGGAATAGGCCCTAGACCCTCTTCCCTTTGTGTAGG... |
Task1_train_11948 | This genomic variant is located on Chromosome 7, within the SLC26A4 (solute carrier family 26 member 4) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | CTGAGCAACTGTGACTTGACTCCTTGCTAAGTAGCCAGAAATGTAATTAAATACTTGAGGCTTGAAATTATTTAATCCCAGACAATTTCTTTTAATGCCAGATTGAAGAACCTCAAGGAGTGAAGATTCTTAGATTTTCCAGTCCTATTTTCTATGGCAATGTCGATGGTTTTAAAAAATGTATCAAGTCCACAGTAAGTATTTTATCCCTAGAAATTTGTTTTCTAACCTCTTTTGAGACTTCATTCATTCTACAAGTATTTACTGGGGTCCAATCAGGAATAGGCCCTAGACCCTCTTCCCTTTGTGTAGGGCAATGA... | CTGAGCAACTGTGACTTGACTCCTTGCTAAGTAGCCAGAAATGTAATTAAATACTTGAGGCTTGAAATTATTTAATCCCAGACAATTTCTTTTAATGCCAGATTGAAGAACCTCAAGGAGTGAAGATTCTTAGATTTTCCAGTCCTATTTTCTATGGCAATGTCGATGGTTTTAAAAAATGTATCAAGTCCACAGTAAGTATTTTATCCCTAGAAATTTGTTTTCTAACCTCTTTTGAGACTTCATTCATTCTACAAGTATTTACTGGGGTCCAATCAGGAATAGGCCCTAGACCCTCTTCCCTTTGTGTAGGGCAATGA... |
Task1_train_11949 | Here’s a variant in SLC26A4 (solute carrier family 26 member 4) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | ATCTCAGTTTCTTCATCTGTAATATGGAGGTAATGATGGTATCTACCTTCACAGGTTGTTACAAGGATTAAATAAGCTAATAGATATAAGGTGTTTAGAAGAGTGTCTGGTTCAGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACACCTGTAGTCCCAGCTCCTAGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGG... | ATCTCAGTTTCTTCATCTGTAATATGGAGGTAATGATGGTATCTACCTTCACAGGTTGTTACAAGGATTAAATAAGCTAATAGATATAAGGTGTTTAGAAGAGTGTCTGGTTCAGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACACCTGTAGTCCCAGCTCCTAGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGG... |
Task1_train_11950 | Here is a genetic alteration in SLC26A4 (solute carrier family 26 member 4) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Pendred syndrome | ATCTCAGTTTCTTCATCTGTAATATGGAGGTAATGATGGTATCTACCTTCACAGGTTGTTACAAGGATTAAATAAGCTAATAGATATAAGGTGTTTAGAAGAGTGTCTGGTTCAGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACACCTGTAGTCCCAGCTCCTAGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGG... | ATCTCAGTTTCTTCATCTGTAATATGGAGGTAATGATGGTATCTACCTTCACAGGTTGTTACAAGGATTAAATAAGCTAATAGATATAAGGTGTTTAGAAGAGTGTCTGGTTCAGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACACCTGTAGTCCCAGCTCCTAGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGG... |
Task1_train_11951 | The gene SLC26A4 (solute carrier family 26 member 4) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | GAGGTAATGATGGTATCTACCTTCACAGGTTGTTACAAGGATTAAATAAGCTAATAGATATAAGGTGTTTAGAAGAGTGTCTGGTTCAGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACACCTGTAGTCCCAGCTCCTAGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGCTGAGATTGT... | GAGGTAATGATGGTATCTACCTTCACAGGTTGTTACAAGGATTAAATAAGCTAATAGATATAAGGTGTTTAGAAGAGTGTCTGGTTCAGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACACCTGTAGTCCCAGCTCCTAGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGCTGAGATTGT... |
Task1_train_11952 | A variant was discovered on Chromosome 7, affecting LOC123956210, SLC26A4 (Sharpr-MPRA regulatory region 3291| solute carrier family 26 member 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | GTTTTCTAGGCCAGTTACCTGGAAGAGAAAATCCTCTCACAATTTTCTATTAAGAGTAAACCAATCCTCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCT... | GTTTTCTAGGCCAGTTACCTGGAAGAGAAAATCCTCTCACAATTTTCTATTAAGAGTAAACCAATCCTCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCT... |
Task1_train_11953 | This gene mutation involves LOC123956210, SLC26A4 (Sharpr-MPRA regulatory region 3291| solute carrier family 26 member 4) on Chromosome 7. Is it associated with any clinical condition, or is it benign? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | TTTTCTAGGCCAGTTACCTGGAAGAGAAAATCCTCTCACAATTTTCTATTAAGAGTAAACCAATCCTCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCTT... | TTTTCTAGGCCAGTTACCTGGAAGAGAAAATCCTCTCACAATTTTCTATTAAGAGTAAACCAATCCTCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCTT... |
Task1_train_11954 | A variant has been detected on Chromosome 7 in LOC123956210, SLC26A4 (Sharpr-MPRA regulatory region 3291| solute carrier family 26 member 4). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | GTAAACCAATCCTCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCTTTTCTCCTTATCATTTTGACCATATAAGGTTATCTCCTATACAAAAGAAAAAATT... | GTAAACCAATCCTCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCTTTTCTCCTTATCATTTTGACCATATAAGGTTATCTCCTATACAAAAGAAAAAATT... |
Task1_train_11955 | Gene LOC123956210, SLC26A4 (Sharpr-MPRA regulatory region 3291| solute carrier family 26 member 4), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Pendred syndrome | GTAAACCAATCCTCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCTTTTCTCCTTATCATTTTGACCATATAAGGTTATCTCCTATACAAAAGAAAAAATT... | GTAAACCAATCCTCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCTTTTCTCCTTATCATTTTGACCATATAAGGTTATCTCCTATACAAAAGAAAAAATT... |
Task1_train_11956 | The gene LOC123956210, SLC26A4 (Sharpr-MPRA regulatory region 3291| solute carrier family 26 member 4) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | GTAAACCAATCCTCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCTTTTCTCCTTATCATTTTGACCATATAAGGTTATCTCCTATACAAAAGAAAAAATT... | GTAAACCAATCCTCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCTTTTCTCCTTATCATTTTGACCATATAAGGTTATCTCCTATACAAAAGAAAAAATT... |
Task1_train_11957 | The variant affects gene LOC123956210, SLC26A4 (Sharpr-MPRA regulatory region 3291| solute carrier family 26 member 4), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Rare genetic deafness | GTAAACCAATCCTCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCTTTTCTCCTTATCATTTTGACCATATAAGGTTATCTCCTATACAAAAGAAAAAATT... | GTAAACCAATCCTCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCTTTTCTCCTTATCATTTTGACCATATAAGGTTATCTCCTATACAAAAGAAAAAATT... |
Task1_train_11958 | The variant affects gene LOC123956210, SLC26A4 (Sharpr-MPRA regulatory region 3291| solute carrier family 26 member 4), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Pendred syndrome | GTAAACCAATCCTCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCTTTTCTCCTTATCATTTTGACCATATAAGGTTATCTCCTATACAAAAGAAAAAATT... | GTAAACCAATCCTCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCTTTTCTCCTTATCATTTTGACCATATAAGGTTATCTCCTATACAAAAGAAAAAATT... |
Task1_train_11959 | This genomic variant is located on Chromosome 7, within the LOC123956210, SLC26A4 (Sharpr-MPRA regulatory region 3291| solute carrier family 26 member 4) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Pendred syndrome | CCAATCCTCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCTTTTCTCCTTATCATTTTGACCATATAAGGTTATCTCCTATACAAAAGAAAAAATTACTCT... | CCAATCCTCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCTTTTCTCCTTATCATTTTGACCATATAAGGTTATCTCCTATACAAAAGAAAAAATTACTCT... |
Task1_train_11960 | An alteration has been detected in LOC123956210, SLC26A4 (Sharpr-MPRA regulatory region 3291| solute carrier family 26 member 4) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | CCAATCCTCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCTTTTCTCCTTATCATTTTGACCATATAAGGTTATCTCCTATACAAAAGAAAAAATTACTCT... | CCAATCCTCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCTTTTCTCCTTATCATTTTGACCATATAAGGTTATCTCCTATACAAAAGAAAAAATTACTCT... |
Task1_train_11961 | With a mutation on Chromosome 7 in gene LOC123956210, SLC26A4 (Sharpr-MPRA regulatory region 3291| solute carrier family 26 member 4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Pendred syndrome | CCAATCCTCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCTTTTCTCCTTATCATTTTGACCATATAAGGTTATCTCCTATACAAAAGAAAAAATTACTCT... | CCAATCCTCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCTTTTCTCCTTATCATTTTGACCATATAAGGTTATCTCCTATACAAAAGAAAAAATTACTCT... |
Task1_train_11962 | The gene LOC123956210, SLC26A4 (Sharpr-MPRA regulatory region 3291| solute carrier family 26 member 4) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | CCAATCCTCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCTTTTCTCCTTATCATTTTGACCATATAAGGTTATCTCCTATACAAAAGAAAAAATTACTCT... | CCAATCCTCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCTTTTCTCCTTATCATTTTGACCATATAAGGTTATCTCCTATACAAAAGAAAAAATTACTCT... |
Task1_train_11963 | A mutation found in SLC26A3 (solute carrier family 26 member 3) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | TTATCAATAACTTTCTGGGTATAAAGTTGTTTTTATGTCATAGTCAGATGAAGATCCTTCTGAATTATATGTTGATTAGAATTTTGTTTCAACTGGCACCTGGAAGAAGACAGAAAGTTCTTGTTTTAAAATACTCGTCAAGTTCTGTTACAATAATCACATCTTAGGAGCTAGAATTTACCAGAGTTAACAGGTTTTTTTTTTGTCTTGAATTTTAATGATCAAGTACCTTCCATCACTGCTTGTTTAACATAGATCTATGTGATACCACATTGTAATTCAAAGGCCTAACTTAACTTAAAGTAATGGTACAGTGTGTT... | TTATCAATAACTTTCTGGGTATAAAGTTGTTTTTATGTCATAGTCAGATGAAGATCCTTCTGAATTATATGTTGATTAGAATTTTGTTTCAACTGGCACCTGGAAGAAGACAGAAAGTTCTTGTTTTAAAATACTCGTCAAGTTCTGTTACAATAATCACATCTTAGGAGCTAGAATTTACCAGAGTTAACAGGTTTTTTTTTTGTCTTGAATTTTAATGATCAAGTACCTTCCATCACTGCTTGTTTAACATAGATCTATGTGATACCACATTGTAATTCAAAGGCCTAACTTAACTTAAAGTAATGGTACAGTGTGTT... |
Task1_train_11964 | This gene mutation involves SLC26A3 (solute carrier family 26 member 3) on Chromosome 7. Is it associated with any clinical condition, or is it benign? | Pathogenic; Congenital secretory diarrhea, chloride type | GTGATCTCAACTCACTGCAAGATCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCGGCTATTTTTTTTTTTTAATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGATCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGCTTTCTTTTTTAATATGAAAAAATTTTACAAACTGTAGGTAAACCCCATGGCAAAGGCATTAAAGGAAAGCTCTCTAAAAACACAGTAGTGAGTTTCATGTATTTCAGT... | GTGATCTCAACTCACTGCAAGATCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCGGCTATTTTTTTTTTTTAATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGATCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGCTTTCTTTTTTAATATGAAAAAATTTTACAAACTGTAGGTAAACCCCATGGCAAAGGCATTAAAGGAAAGCTCTCTAAAAACACAGTAGTGAGTTTCATGTATTTCAGT... |
Task1_train_11965 | Consider a variant on Chromosome 7 in gene SLC26A3 (solute carrier family 26 member 3). Determine its clinical classification and disease relevance. | Pathogenic; Congenital secretory diarrhea, chloride type | CCTGTATGTACATGCCTTGAAGAAGCAAATGTCCCTGCCTCCTGGGACGCCTCCCACCCAGGGCTCCTCTCTCTCCTTCCCTTCCACCGCATCATCCAGGTGGAACGTCACATGGTATTCACATAGGATATAAGTCTAGTTTGCCCCCAAGAAGTAACAGGCTTATTTGCACTTAATTTATTTTTAAGTGTGCTGTCTTTGGAAGACTCATAGGCCTTTTCTAGTAGAATCTTACCTAGCATCAGCCCTCATAAATTTGCTGATGTAATTTTAAGTTATACTTTCTAGCTGCTGGAGCACGCATGAGCGAGTGTCTATCC... | CCTGTATGTACATGCCTTGAAGAAGCAAATGTCCCTGCCTCCTGGGACGCCTCCCACCCAGGGCTCCTCTCTCTCCTTCCCTTCCACCGCATCATCCAGGTGGAACGTCACATGGTATTCACATAGGATATAAGTCTAGTTTGCCCCCAAGAAGTAACAGGCTTATTTGCACTTAATTTATTTTTAAGTGTGCTGTCTTTGGAAGACTCATAGGCCTTTTCTAGTAGAATCTTACCTAGCATCAGCCCTCATAAATTTGCTGATGTAATTTTAAGTTATACTTTCTAGCTGCTGGAGCACGCATGAGCGAGTGTCTATCC... |
Task1_train_11966 | Consider this mutation in DLD (dihydrolipoamide dehydrogenase) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; Pyruvate dehydrogenase E3 deficiency | ATTTTATAAAAACTTTCCTAGAAGAAGGATTGGGAGGACCTATAAACAGTTCTCTCTGGGCTGTATGGCAATGTGGATGGGTTGTTTTTTTTTTAATTTTGCTTTAGTGTATTTAAATTTATTCAGTAAACCTAAATTTTTAATCAGAAAAGACATTAAAAATTCAGCAAAGAAACCTGTTTTGTAGCTTGTATTTACATTACTCTGAAATTAAAAATTAGAACCCATTTAAGGGATGTTGTGTAGATCGTCATTTGGTTCAAGATTTGAAAATAAAAATACATTTTATTAGATACTTAATTCTGAACCGAAATCAGTGA... | ATTTTATAAAAACTTTCCTAGAAGAAGGATTGGGAGGACCTATAAACAGTTCTCTCTGGGCTGTATGGCAATGTGGATGGGTTGTTTTTTTTTTAATTTTGCTTTAGTGTATTTAAATTTATTCAGTAAACCTAAATTTTTAATCAGAAAAGACATTAAAAATTCAGCAAAGAAACCTGTTTTGTAGCTTGTATTTACATTACTCTGAAATTAAAAATTAGAACCCATTTAAGGGATGTTGTGTAGATCGTCATTTGGTTCAAGATTTGAAAATAAAAATACATTTTATTAGATACTTAATTCTGAACCGAAATCAGTGA... |
Task1_train_11967 | This gene mutation involves DLD (dihydrolipoamide dehydrogenase) on Chromosome 7. Is it associated with any clinical condition, or is it benign? | Pathogenic; Pyruvate dehydrogenase E3 deficiency | CTCTAGGGATGTGTGTTTTTGGGGAGAGGGGGTGATGCAAATTAAAATAGTCTTCTTTGTAGGTCAGAATATAGCTACTATGTATAGAATACTTATTATGTATGCTATAGGTACTATGCTAAATTATTTACATACATTATTTTATTCTGTTATCACCCTATGAAGTAGGTTTTTTTTGTGGTCTTTCTTTTGCCAGGTATGGAAACAAAGATGAAGCAGGTTAAATTACTCACCTAAGGTCACATAGGTAGTGATTATAAAGCTTGATTATTGCTCTCTGGAATTTTAGTTTATGATGGTTAAAACTGAGGAATGGAATA... | CTCTAGGGATGTGTGTTTTTGGGGAGAGGGGGTGATGCAAATTAAAATAGTCTTCTTTGTAGGTCAGAATATAGCTACTATGTATAGAATACTTATTATGTATGCTATAGGTACTATGCTAAATTATTTACATACATTATTTTATTCTGTTATCACCCTATGAAGTAGGTTTTTTTTGTGGTCTTTCTTTTGCCAGGTATGGAAACAAAGATGAAGCAGGTTAAATTACTCACCTAAGGTCACATAGGTAGTGATTATAAAGCTTGATTATTGCTCTCTGGAATTTTAGTTTATGATGGTTAAAACTGAGGAATGGAATA... |
Task1_train_11968 | With a mutation on Chromosome 7 in gene DLD (dihydrolipoamide dehydrogenase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Inborn genetic diseases | AATTGATTCTTAGGTATTTTATATTCATTATAGCTATTGCAAATGGGATTGCTTTTTTTTTTTCTTTTTTAGATTGTCCACTGTTGGTGTATATAAATGCTACTGATTTTTGTATGTTGATTTTGTATCCTGCAACTTTACTGAATTAGTTTGTAAGTTTAATAGTTTTTTGGTGGAGTCTTTAGGTTTTTCTAAATATAAGATCATGTAGTCTGCACAAAAGATTAATTTGACTTCTTCCTTTTCAATTCGAATGCCCTTTGTTTCTTTCTCCTCTACAATTGCTGAGGCCAGGACTTCCAGTACTATGTTGAATAAAA... | AATTGATTCTTAGGTATTTTATATTCATTATAGCTATTGCAAATGGGATTGCTTTTTTTTTTTCTTTTTTAGATTGTCCACTGTTGGTGTATATAAATGCTACTGATTTTTGTATGTTGATTTTGTATCCTGCAACTTTACTGAATTAGTTTGTAAGTTTAATAGTTTTTTGGTGGAGTCTTTAGGTTTTTCTAAATATAAGATCATGTAGTCTGCACAAAAGATTAATTTGACTTCTTCCTTTTCAATTCGAATGCCCTTTGTTTCTTTCTCCTCTACAATTGCTGAGGCCAGGACTTCCAGTACTATGTTGAATAAAA... |
Task1_train_11969 | The gene DLD (dihydrolipoamide dehydrogenase) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Pyruvate dehydrogenase E3 deficiency | AATTGATTCTTAGGTATTTTATATTCATTATAGCTATTGCAAATGGGATTGCTTTTTTTTTTTCTTTTTTAGATTGTCCACTGTTGGTGTATATAAATGCTACTGATTTTTGTATGTTGATTTTGTATCCTGCAACTTTACTGAATTAGTTTGTAAGTTTAATAGTTTTTTGGTGGAGTCTTTAGGTTTTTCTAAATATAAGATCATGTAGTCTGCACAAAAGATTAATTTGACTTCTTCCTTTTCAATTCGAATGCCCTTTGTTTCTTTCTCCTCTACAATTGCTGAGGCCAGGACTTCCAGTACTATGTTGAATAAAA... | AATTGATTCTTAGGTATTTTATATTCATTATAGCTATTGCAAATGGGATTGCTTTTTTTTTTTCTTTTTTAGATTGTCCACTGTTGGTGTATATAAATGCTACTGATTTTTGTATGTTGATTTTGTATCCTGCAACTTTACTGAATTAGTTTGTAAGTTTAATAGTTTTTTGGTGGAGTCTTTAGGTTTTTCTAAATATAAGATCATGTAGTCTGCACAAAAGATTAATTTGACTTCTTCCTTTTCAATTCGAATGCCCTTTGTTTCTTTCTCCTCTACAATTGCTGAGGCCAGGACTTCCAGTACTATGTTGAATAAAA... |
Task1_train_11970 | Given this variant in gene DLD (dihydrolipoamide dehydrogenase) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; DLD-related disorder | AATTGATTCTTAGGTATTTTATATTCATTATAGCTATTGCAAATGGGATTGCTTTTTTTTTTTCTTTTTTAGATTGTCCACTGTTGGTGTATATAAATGCTACTGATTTTTGTATGTTGATTTTGTATCCTGCAACTTTACTGAATTAGTTTGTAAGTTTAATAGTTTTTTGGTGGAGTCTTTAGGTTTTTCTAAATATAAGATCATGTAGTCTGCACAAAAGATTAATTTGACTTCTTCCTTTTCAATTCGAATGCCCTTTGTTTCTTTCTCCTCTACAATTGCTGAGGCCAGGACTTCCAGTACTATGTTGAATAAAA... | AATTGATTCTTAGGTATTTTATATTCATTATAGCTATTGCAAATGGGATTGCTTTTTTTTTTTCTTTTTTAGATTGTCCACTGTTGGTGTATATAAATGCTACTGATTTTTGTATGTTGATTTTGTATCCTGCAACTTTACTGAATTAGTTTGTAAGTTTAATAGTTTTTTGGTGGAGTCTTTAGGTTTTTCTAAATATAAGATCATGTAGTCTGCACAAAAGATTAATTTGACTTCTTCCTTTTCAATTCGAATGCCCTTTGTTTCTTTCTCCTCTACAATTGCTGAGGCCAGGACTTCCAGTACTATGTTGAATAAAA... |
Task1_train_11971 | This alteration in DLD (dihydrolipoamide dehydrogenase) on Chromosome 7 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Pyruvate dehydrogenase E3 deficiency | AATGTATGCCTAGAAGCTAAAATATTGCCTACCATGTAGTAGATGTTCAACAAATGTTGAATGAGTAAGTTAATAAATGTATGAAGTTATACATATTTAACACAGGGTCAATTTTAAACCTCGGAGCTTCTCATAGGAACATACTAGCGAAAGAAGAAAATGTTTTACAATAAATTATTAAGATGATTTCGTAAACATTTGCTATAGAAACTTTTATGATTATTGGGTTTTTTTAATTTATTTGCAGGGTTCAGTTTGGCAAAGACTTGGTGCAGATGTGACAGCAGTTGAATTTTTAGGTCATGTAGGTGGAGTTGGAA... | AATGTATGCCTAGAAGCTAAAATATTGCCTACCATGTAGTAGATGTTCAACAAATGTTGAATGAGTAAGTTAATAAATGTATGAAGTTATACATATTTAACACAGGGTCAATTTTAAACCTCGGAGCTTCTCATAGGAACATACTAGCGAAAGAAGAAAATGTTTTACAATAAATTATTAAGATGATTTCGTAAACATTTGCTATAGAAACTTTTATGATTATTGGGTTTTTTTAATTTATTTGCAGGGTTCAGTTTGGCAAAGACTTGGTGCAGATGTGACAGCAGTTGAATTTTTAGGTCATGTAGGTGGAGTTGGAA... |
Task1_train_11972 | Gene DLD (dihydrolipoamide dehydrogenase) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Pyruvate dehydrogenase E3 deficiency | TAACACAGGGTCAATTTTAAACCTCGGAGCTTCTCATAGGAACATACTAGCGAAAGAAGAAAATGTTTTACAATAAATTATTAAGATGATTTCGTAAACATTTGCTATAGAAACTTTTATGATTATTGGGTTTTTTTAATTTATTTGCAGGGTTCAGTTTGGCAAAGACTTGGTGCAGATGTGACAGCAGTTGAATTTTTAGGTCATGTAGGTGGAGTTGGAATTGATATGGAGATATCTAAAAACTTTCAACGCATCCTTCAAAAACAGGGGTTTAAATTTAAATTGAATACAAAGGTTACTGGTGCTACCAAGAAGTC... | TAACACAGGGTCAATTTTAAACCTCGGAGCTTCTCATAGGAACATACTAGCGAAAGAAGAAAATGTTTTACAATAAATTATTAAGATGATTTCGTAAACATTTGCTATAGAAACTTTTATGATTATTGGGTTTTTTTAATTTATTTGCAGGGTTCAGTTTGGCAAAGACTTGGTGCAGATGTGACAGCAGTTGAATTTTTAGGTCATGTAGGTGGAGTTGGAATTGATATGGAGATATCTAAAAACTTTCAACGCATCCTTCAAAAACAGGGGTTTAAATTTAAATTGAATACAAAGGTTACTGGTGCTACCAAGAAGTC... |
Task1_train_11973 | Consider a variant on Chromosome 7 in gene DLD (dihydrolipoamide dehydrogenase). Determine its clinical classification and disease relevance. | Pathogenic; Pyruvate dehydrogenase E3 deficiency | TAAGATTTTTATGCTTAAAATATGTATTGGCTTTGGGGAAGAATAGTAAACTTACAAAATGTAAAATAAAAAATAACTGAATTTTACTCAAAGATAAGCTGAATTCATAGATTTTTGAAGAGCTGCATTTGATGTATTTTTTGGTGACTTGTTTACTGGAAACTTTTGTTACCATAATGTAACTGAAGGTAAGTAGCTGTGATTTCAGAAATTCATTGTGTTTCTTTTGATTTCTGTGGTAGTATCTATGCCATTGGTGATGTAGTTGCTGGTCCAATGCTGGCTCACAAAGCAGAGGATGAAGGCATTATCTGTGTTGA... | TAAGATTTTTATGCTTAAAATATGTATTGGCTTTGGGGAAGAATAGTAAACTTACAAAATGTAAAATAAAAAATAACTGAATTTTACTCAAAGATAAGCTGAATTCATAGATTTTTGAAGAGCTGCATTTGATGTATTTTTTGGTGACTTGTTTACTGGAAACTTTTGTTACCATAATGTAACTGAAGGTAAGTAGCTGTGATTTCAGAAATTCATTGTGTTTCTTTTGATTTCTGTGGTAGTATCTATGCCATTGGTGATGTAGTTGCTGGTCCAATGCTGGCTCACAAAGCAGAGGATGAAGGCATTATCTGTGTTGA... |
Task1_train_11974 | This is a variant in DLD (dihydrolipoamide dehydrogenase), located on Chromosome 7. Is this mutation a likely cause of disease or not? | Pathogenic; Pyruvate dehydrogenase E3 deficiency | ATATGTATTGGCTTTGGGGAAGAATAGTAAACTTACAAAATGTAAAATAAAAAATAACTGAATTTTACTCAAAGATAAGCTGAATTCATAGATTTTTGAAGAGCTGCATTTGATGTATTTTTTGGTGACTTGTTTACTGGAAACTTTTGTTACCATAATGTAACTGAAGGTAAGTAGCTGTGATTTCAGAAATTCATTGTGTTTCTTTTGATTTCTGTGGTAGTATCTATGCCATTGGTGATGTAGTTGCTGGTCCAATGCTGGCTCACAAAGCAGAGGATGAAGGCATTATCTGTGTTGAAGGAATGGCTGGTGGTGCT... | ATATGTATTGGCTTTGGGGAAGAATAGTAAACTTACAAAATGTAAAATAAAAAATAACTGAATTTTACTCAAAGATAAGCTGAATTCATAGATTTTTGAAGAGCTGCATTTGATGTATTTTTTGGTGACTTGTTTACTGGAAACTTTTGTTACCATAATGTAACTGAAGGTAAGTAGCTGTGATTTCAGAAATTCATTGTGTTTCTTTTGATTTCTGTGGTAGTATCTATGCCATTGGTGATGTAGTTGCTGGTCCAATGCTGGCTCACAAAGCAGAGGATGAAGGCATTATCTGTGTTGAAGGAATGGCTGGTGGTGCT... |
Task1_train_11975 | This variant affects gene DLD (dihydrolipoamide dehydrogenase) located on Chromosome 7. Evaluate its biological effect and specify any disease association. | Pathogenic; Pyruvate dehydrogenase E3 deficiency | GTATTTTTTGGTGACTTGTTTACTGGAAACTTTTGTTACCATAATGTAACTGAAGGTAAGTAGCTGTGATTTCAGAAATTCATTGTGTTTCTTTTGATTTCTGTGGTAGTATCTATGCCATTGGTGATGTAGTTGCTGGTCCAATGCTGGCTCACAAAGCAGAGGATGAAGGCATTATCTGTGTTGAAGGAATGGCTGGTGGTGCTGTGCACATTGACTACAATTGTGTGCCATCAGTGATTTACACACACCCTGAAGTTGCTTGGGTTGGCAAATCAGAAGAGCAGTTGAAAGAAGAGGTAAGTCTGAACATGGGTGGT... | GTATTTTTTGGTGACTTGTTTACTGGAAACTTTTGTTACCATAATGTAACTGAAGGTAAGTAGCTGTGATTTCAGAAATTCATTGTGTTTCTTTTGATTTCTGTGGTAGTATCTATGCCATTGGTGATGTAGTTGCTGGTCCAATGCTGGCTCACAAAGCAGAGGATGAAGGCATTATCTGTGTTGAAGGAATGGCTGGTGGTGCTGTGCACATTGACTACAATTGTGTGCCATCAGTGATTTACACACACCCTGAAGTTGCTTGGGTTGGCAAATCAGAAGAGCAGTTGAAAGAAGAGGTAAGTCTGAACATGGGTGGT... |
Task1_train_11976 | Gene LAMB1 (laminin subunit beta 1) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Cobblestone lissencephaly without muscular or ocular involvement | AGAGCTCCATTTACCTGTTGTTTAAGGCTCCCCCAAGGTCACAGTCACATGGTCGACATCCATCCAAATCATTGCTTAAGCCCCAGTGCTCTGGCTGCAGAACAAAACGTGAAACATGTAACGGTAGGTTTCTGTAATTATGCAACAGACTCAGCAACAAGCAAGTTAAAGCTTGTTTCGGCTGTTCCACCAAATGCTCATTTTCATCATTAAAGCAGAAAGCCAACAAAAGGAAGGAGTATTCTGAAATCAAGAAACCTGAGCTGTAGGCACTGGCGTAAGAGAGCCGTTCACAATCACAGGATCGTGCCAGGTCAAAG... | AGAGCTCCATTTACCTGTTGTTTAAGGCTCCCCCAAGGTCACAGTCACATGGTCGACATCCATCCAAATCATTGCTTAAGCCCCAGTGCTCTGGCTGCAGAACAAAACGTGAAACATGTAACGGTAGGTTTCTGTAATTATGCAACAGACTCAGCAACAAGCAAGTTAAAGCTTGTTTCGGCTGTTCCACCAAATGCTCATTTTCATCATTAAAGCAGAAAGCCAACAAAAGGAAGGAGTATTCTGAAATCAAGAAACCTGAGCTGTAGGCACTGGCGTAAGAGAGCCGTTCACAATCACAGGATCGTGCCAGGTCAAAG... |
Task1_train_11977 | Given this variant in gene NRCAM (neuronal cell adhesion molecule) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; NRCAM-related disorder | TCCTTTTTCTCTCTTGTCATTTACATTTATATTTAATAAAACCATCCTCTCAAAACACATAATGACTTTGCCTTTAGATGGACTCAAACCTAATATTTTAAAAAGAGGCAGTACTTGTTTGACGCATGAATGGTGTCTTAATAGAAGCAAACTAGCTACCAAGTGAAACTATTCTAACTGGATCTGAGTGGAAGCAGCTGTGTTCTGGACCATTAAGGACTGTTTTCTCTAACAAACCAGGTGTCTCCAAACAGTCAGAATGCCCTGCCTGCTGGGCTTTGGGCCAGCATGCCCAGGTGCAGAAACGTTCTTATCCTGAG... | TCCTTTTTCTCTCTTGTCATTTACATTTATATTTAATAAAACCATCCTCTCAAAACACATAATGACTTTGCCTTTAGATGGACTCAAACCTAATATTTTAAAAAGAGGCAGTACTTGTTTGACGCATGAATGGTGTCTTAATAGAAGCAAACTAGCTACCAAGTGAAACTATTCTAACTGGATCTGAGTGGAAGCAGCTGTGTTCTGGACCATTAAGGACTGTTTTCTCTAACAAACCAGGTGTCTCCAAACAGTCAGAATGCCCTGCCTGCTGGGCTTTGGGCCAGCATGCCCAGGTGCAGAAACGTTCTTATCCTGAG... |
Task1_train_11978 | A mutation in NRCAM (neuronal cell adhesion molecule), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Neurodevelopmental disorder with neuromuscular and skeletal abnormalities | TCCTTTTTCTCTCTTGTCATTTACATTTATATTTAATAAAACCATCCTCTCAAAACACATAATGACTTTGCCTTTAGATGGACTCAAACCTAATATTTTAAAAAGAGGCAGTACTTGTTTGACGCATGAATGGTGTCTTAATAGAAGCAAACTAGCTACCAAGTGAAACTATTCTAACTGGATCTGAGTGGAAGCAGCTGTGTTCTGGACCATTAAGGACTGTTTTCTCTAACAAACCAGGTGTCTCCAAACAGTCAGAATGCCCTGCCTGCTGGGCTTTGGGCCAGCATGCCCAGGTGCAGAAACGTTCTTATCCTGAG... | TCCTTTTTCTCTCTTGTCATTTACATTTATATTTAATAAAACCATCCTCTCAAAACACATAATGACTTTGCCTTTAGATGGACTCAAACCTAATATTTTAAAAAGAGGCAGTACTTGTTTGACGCATGAATGGTGTCTTAATAGAAGCAAACTAGCTACCAAGTGAAACTATTCTAACTGGATCTGAGTGGAAGCAGCTGTGTTCTGGACCATTAAGGACTGTTTTCTCTAACAAACCAGGTGTCTCCAAACAGTCAGAATGCCCTGCCTGCTGGGCTTTGGGCCAGCATGCCCAGGTGCAGAAACGTTCTTATCCTGAG... |
Task1_train_11979 | A mutation found in NRCAM (neuronal cell adhesion molecule) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; NRCAM-related disorder | TTTCCCATCCTGAATTACACAAGAGACCAGCACGCAAAGATAGACAAACATTCTCAGGGTCCTATTTCAATCACCTGATACCTTCTTGGGTGCATATATTTTACAGTAGGGAGAAAATGCTTATCTCTCTATTTTGGAGACAGCAGACTTCAGAAACTAAAAACATCACCATAATTGACTACATAGTAGACCTTTAGTTCAAGAATAGCTTAAAGAAAGAATGAAGAGAAAGTAAAGAAATCGTCTTCAAATACCTTTCATCACTGGGCAGTTCCCTGTTGTCCTTCAGCCACAGGACAGTGAGGGATAAGGTGTGATCA... | TTTCCCATCCTGAATTACACAAGAGACCAGCACGCAAAGATAGACAAACATTCTCAGGGTCCTATTTCAATCACCTGATACCTTCTTGGGTGCATATATTTTACAGTAGGGAGAAAATGCTTATCTCTCTATTTTGGAGACAGCAGACTTCAGAAACTAAAAACATCACCATAATTGACTACATAGTAGACCTTTAGTTCAAGAATAGCTTAAAGAAAGAATGAAGAGAAAGTAAAGAAATCGTCTTCAAATACCTTTCATCACTGGGCAGTTCCCTGTTGTCCTTCAGCCACAGGACAGTGAGGGATAAGGTGTGATCA... |
Task1_train_11980 | This sequence change occurs on Chromosome 7, altering NRCAM (neuronal cell adhesion molecule). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Neurodevelopmental disorder with neuromuscular and skeletal abnormalities | TTTCCCATCCTGAATTACACAAGAGACCAGCACGCAAAGATAGACAAACATTCTCAGGGTCCTATTTCAATCACCTGATACCTTCTTGGGTGCATATATTTTACAGTAGGGAGAAAATGCTTATCTCTCTATTTTGGAGACAGCAGACTTCAGAAACTAAAAACATCACCATAATTGACTACATAGTAGACCTTTAGTTCAAGAATAGCTTAAAGAAAGAATGAAGAGAAAGTAAAGAAATCGTCTTCAAATACCTTTCATCACTGGGCAGTTCCCTGTTGTCCTTCAGCCACAGGACAGTGAGGGATAAGGTGTGATCA... | TTTCCCATCCTGAATTACACAAGAGACCAGCACGCAAAGATAGACAAACATTCTCAGGGTCCTATTTCAATCACCTGATACCTTCTTGGGTGCATATATTTTACAGTAGGGAGAAAATGCTTATCTCTCTATTTTGGAGACAGCAGACTTCAGAAACTAAAAACATCACCATAATTGACTACATAGTAGACCTTTAGTTCAAGAATAGCTTAAAGAAAGAATGAAGAGAAAGTAAAGAAATCGTCTTCAAATACCTTTCATCACTGGGCAGTTCCCTGTTGTCCTTCAGCCACAGGACAGTGAGGGATAAGGTGTGATCA... |
Task1_train_11981 | This sequence variant lies in NRCAM (neuronal cell adhesion molecule) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; NRCAM-related disorder | ACAGTGGGGACAACATTATAGCCAATACCACTGATTAATCATATTAAGATCCTCAAACTGTGAGGTTTATGGAAAACAAAAGTAGAGAGTTACTGACAGAGGTCTTGCAAATATTATGCCACAAAATAAGAATAATGGTGGAGTTAAATAAATGGAAATCATTTTCCTCAATAAAAAAATAAAGAGGATCCAAGTCAAAGATCTTAGGGATAGTTACACAGGCCATCTTCTTTTTTATGGAGGCCTTTCCAAAACATAGCCTTATCTTCTGAAGGTTTCTTAGAAAAACTTGGAGCAGAAATTACATCATCTTAAGGTTT... | ACAGTGGGGACAACATTATAGCCAATACCACTGATTAATCATATTAAGATCCTCAAACTGTGAGGTTTATGGAAAACAAAAGTAGAGAGTTACTGACAGAGGTCTTGCAAATATTATGCCACAAAATAAGAATAATGGTGGAGTTAAATAAATGGAAATCATTTTCCTCAATAAAAAAATAAAGAGGATCCAAGTCAAAGATCTTAGGGATAGTTACACAGGCCATCTTCTTTTTTATGGAGGCCTTTCCAAAACATAGCCTTATCTTCTGAAGGTTTCTTAGAAAAACTTGGAGCAGAAATTACATCATCTTAAGGTTT... |
Task1_train_11982 | The gene NRCAM (neuronal cell adhesion molecule) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Neurodevelopmental disorder with neuromuscular and skeletal abnormalities | ACAGTGGGGACAACATTATAGCCAATACCACTGATTAATCATATTAAGATCCTCAAACTGTGAGGTTTATGGAAAACAAAAGTAGAGAGTTACTGACAGAGGTCTTGCAAATATTATGCCACAAAATAAGAATAATGGTGGAGTTAAATAAATGGAAATCATTTTCCTCAATAAAAAAATAAAGAGGATCCAAGTCAAAGATCTTAGGGATAGTTACACAGGCCATCTTCTTTTTTATGGAGGCCTTTCCAAAACATAGCCTTATCTTCTGAAGGTTTCTTAGAAAAACTTGGAGCAGAAATTACATCATCTTAAGGTTT... | ACAGTGGGGACAACATTATAGCCAATACCACTGATTAATCATATTAAGATCCTCAAACTGTGAGGTTTATGGAAAACAAAAGTAGAGAGTTACTGACAGAGGTCTTGCAAATATTATGCCACAAAATAAGAATAATGGTGGAGTTAAATAAATGGAAATCATTTTCCTCAATAAAAAAATAAAGAGGATCCAAGTCAAAGATCTTAGGGATAGTTACACAGGCCATCTTCTTTTTTATGGAGGCCTTTCCAAAACATAGCCTTATCTTCTGAAGGTTTCTTAGAAAAACTTGGAGCAGAAATTACATCATCTTAAGGTTT... |
Task1_train_11983 | A change on Chromosome 7 affects gene NRCAM (neuronal cell adhesion molecule). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; NRCAM-related disorder | TGGGTTTCTAGAAATAATTACCAGATTTTAATATTCAGTAAGAGAGCAATAAGCCCTCATATCTAAAATGTTTCATTGAATCATGACCTGGGAAAAAAGGGCAGGCTATACATTTTAAGGTACCTGTCTTCTTTAGAACTAGCCCAAATTTGACTCAATAAAGAAATCATGCACACAAATTGCCTGTCATTTTTCTAAGAAAATAGAGGGAGCAGGTCTCCCAGGTACACTCTCTTAGAGCTTTATTAGCATTTTTACTGTAAACTCCATTGTTCACAGAGTTGATAACCTGTCTATAAAAATTTGCTTGGGGCTAAAAT... | TGGGTTTCTAGAAATAATTACCAGATTTTAATATTCAGTAAGAGAGCAATAAGCCCTCATATCTAAAATGTTTCATTGAATCATGACCTGGGAAAAAAGGGCAGGCTATACATTTTAAGGTACCTGTCTTCTTTAGAACTAGCCCAAATTTGACTCAATAAAGAAATCATGCACACAAATTGCCTGTCATTTTTCTAAGAAAATAGAGGGAGCAGGTCTCCCAGGTACACTCTCTTAGAGCTTTATTAGCATTTTTACTGTAAACTCCATTGTTCACAGAGTTGATAACCTGTCTATAAAAATTTGCTTGGGGCTAAAAT... |
Task1_train_11984 | Here’s a variant in FOXP2 (forkhead box P2) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | TAATAACAGGTAAGCTTAGAGACAGTGACATTTTCTGCCATTTGAAGAGTCTCTTTACATTACATAAATAATTTTCACACAACACGTAAGCAGCTTTAACTTTTATCTGTATGGTTTCAAGGCTTTCTGTTTTCCCAGTGCACAGAAACATCTGACTTCAGTGTAGTGCTTTTTAAGTGTAGCCTATGCCACTAAGATCGACATCACTTTACATTCTGTTTTGTGTCTTCTGTTTGTTTAGGCACCTTAACAATGAACACGCATTGGATGACCGAAGCACTGCTCAGTGTCGAGTGCAAATGCAGGTGGTGCAACAGTTA... | TAATAACAGGTAAGCTTAGAGACAGTGACATTTTCTGCCATTTGAAGAGTCTCTTTACATTACATAAATAATTTTCACACAACACGTAAGCAGCTTTAACTTTTATCTGTATGGTTTCAAGGCTTTCTGTTTTCCCAGTGCACAGAAACATCTGACTTCAGTGTAGTGCTTTTTAAGTGTAGCCTATGCCACTAAGATCGACATCACTTTACATTCTGTTTTGTGTCTTCTGTTTGTTTAGGCACCTTAACAATGAACACGCATTGGATGACCGAAGCACTGCTCAGTGTCGAGTGCAAATGCAGGTGGTGCAACAGTTA... |
Task1_train_11985 | The following genetic variant occurs in MDFIC (MyoD family inhibitor domain containing) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Lymphatic malformation 12 | AGATCCCCTGAAATGATTGGTTACTACCAGAAATCAATATTAGGGGAAGACGGAGAGACCTGAAAACTCTCACAACTCTGTTTTTGTTTTTGTTTTTCCAGTCGCTGCATGGACCATCATATGTAAAAGTGGGCTTGGCACTAAAAAGAAAGGAAAGAACAGTGTGTCCTTCTACAAACACAACTCTGGAATTTCCCTTTTGAGTACTCTCTGACCCTTCCTCCTTTTCACCATCTGCCAAGTGGAGTGTATGACTTTGTGTTTCCACATTTTCTCCTTTCATCCTCTGAATTCTCTACAAAGTTAGAGACTGCAGAGAA... | AGATCCCCTGAAATGATTGGTTACTACCAGAAATCAATATTAGGGGAAGACGGAGAGACCTGAAAACTCTCACAACTCTGTTTTTGTTTTTGTTTTTCCAGTCGCTGCATGGACCATCATATGTAAAAGTGGGCTTGGCACTAAAAAGAAAGGAAAGAACAGTGTGTCCTTCTACAAACACAACTCTGGAATTTCCCTTTTGAGTACTCTCTGACCCTTCCTCCTTTTCACCATCTGCCAAGTGGAGTGTATGACTTTGTGTTTCCACATTTTCTCCTTTCATCCTCTGAATTCTCTACAAAGTTAGAGACTGCAGAGAA... |
Task1_train_11986 | Located on Chromosome 7, this mutation impacts MET (MET proto-oncogene, receptor tyrosine kinase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive | AAAAACTTTTTAGGTGTCACACATGAGAGTTACATATCCCAAGGATGATTCAAACAATGGTAGACGATAAAAATCTTATTTGTTTATATATCTGGAAATATAAACTTCTGTTGTTTTAGTGACAAACATGTTAGTACAGTAGAACTGTACATTAGAATCGGACAAGAGTGAAAAATTCAGTGGATCTATTTTACTATTTACTATTTATTTTACTGTCGTTTGTGAAAAGTACTTTATAAGGAGATATGTATTCATTCCATGTTCCTTGCCACTTATAGAATTTAAAGCTGACCATGATGAATTGAACCCATTTATTATTT... | AAAAACTTTTTAGGTGTCACACATGAGAGTTACATATCCCAAGGATGATTCAAACAATGGTAGACGATAAAAATCTTATTTGTTTATATATCTGGAAATATAAACTTCTGTTGTTTTAGTGACAAACATGTTAGTACAGTAGAACTGTACATTAGAATCGGACAAGAGTGAAAAATTCAGTGGATCTATTTTACTATTTACTATTTATTTTACTGTCGTTTGTGAAAAGTACTTTATAAGGAGATATGTATTCATTCCATGTTCCTTGCCACTTATAGAATTTAAAGCTGACCATGATGAATTGAACCCATTTATTATTT... |
Task1_train_11987 | Mutation context: Chromosome 7, Gene MET (MET proto-oncogene, receptor tyrosine kinase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Renal cell carcinoma | CTCGTCCTGTGTGTACTAGCAATTATAGTTTCTTCAAAGGTGCCATTTACTTTCTTCTAAAACTCAGGGCCAGGCGCAGTGGCTCACACGTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCATCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTTTAATCCCAACTACTGGGGAGGCTGAAGCAAGGAGAATTGCTTGAACCCAGGAGGTGGAAGTTGCAGTGAGCCAAGGTTGTGCCACAGCACT... | CTCGTCCTGTGTGTACTAGCAATTATAGTTTCTTCAAAGGTGCCATTTACTTTCTTCTAAAACTCAGGGCCAGGCGCAGTGGCTCACACGTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCATCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTTTAATCCCAACTACTGGGGAGGCTGAAGCAAGGAGAATTGCTTGAACCCAGGAGGTGGAAGTTGCAGTGAGCCAAGGTTGTGCCACAGCACT... |
Task1_train_11988 | Located on Chromosome 7, this mutation impacts MET (MET proto-oncogene, receptor tyrosine kinase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hereditary cancer-predisposing syndrome | CTCGTCCTGTGTGTACTAGCAATTATAGTTTCTTCAAAGGTGCCATTTACTTTCTTCTAAAACTCAGGGCCAGGCGCAGTGGCTCACACGTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCATCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTTTAATCCCAACTACTGGGGAGGCTGAAGCAAGGAGAATTGCTTGAACCCAGGAGGTGGAAGTTGCAGTGAGCCAAGGTTGTGCCACAGCACT... | CTCGTCCTGTGTGTACTAGCAATTATAGTTTCTTCAAAGGTGCCATTTACTTTCTTCTAAAACTCAGGGCCAGGCGCAGTGGCTCACACGTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCATCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTTTAATCCCAACTACTGGGGAGGCTGAAGCAAGGAGAATTGCTTGAACCCAGGAGGTGGAAGTTGCAGTGAGCCAAGGTTGTGCCACAGCACT... |
Task1_train_11989 | A variant found in Chromosome 7 affects MET (MET proto-oncogene, receptor tyrosine kinase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Papillary renal cell carcinoma type 1 | CTCGTCCTGTGTGTACTAGCAATTATAGTTTCTTCAAAGGTGCCATTTACTTTCTTCTAAAACTCAGGGCCAGGCGCAGTGGCTCACACGTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCATCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTTTAATCCCAACTACTGGGGAGGCTGAAGCAAGGAGAATTGCTTGAACCCAGGAGGTGGAAGTTGCAGTGAGCCAAGGTTGTGCCACAGCACT... | CTCGTCCTGTGTGTACTAGCAATTATAGTTTCTTCAAAGGTGCCATTTACTTTCTTCTAAAACTCAGGGCCAGGCGCAGTGGCTCACACGTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCATCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTTTAATCCCAACTACTGGGGAGGCTGAAGCAAGGAGAATTGCTTGAACCCAGGAGGTGGAAGTTGCAGTGAGCCAAGGTTGTGCCACAGCACT... |
Task1_train_11990 | Gene MET (MET proto-oncogene, receptor tyrosine kinase) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Renal cell carcinoma | TGTGTGTACTAGCAATTATAGTTTCTTCAAAGGTGCCATTTACTTTCTTCTAAAACTCAGGGCCAGGCGCAGTGGCTCACACGTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCATCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTTTAATCCCAACTACTGGGGAGGCTGAAGCAAGGAGAATTGCTTGAACCCAGGAGGTGGAAGTTGCAGTGAGCCAAGGTTGTGCCACAGCACTCCAGCCT... | TGTGTGTACTAGCAATTATAGTTTCTTCAAAGGTGCCATTTACTTTCTTCTAAAACTCAGGGCCAGGCGCAGTGGCTCACACGTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCATCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTTTAATCCCAACTACTGGGGAGGCTGAAGCAAGGAGAATTGCTTGAACCCAGGAGGTGGAAGTTGCAGTGAGCCAAGGTTGTGCCACAGCACTCCAGCCT... |
Task1_train_11991 | Located on Chromosome 7, this mutation impacts MET (MET proto-oncogene, receptor tyrosine kinase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; MET-related disorder | TGTGTGTACTAGCAATTATAGTTTCTTCAAAGGTGCCATTTACTTTCTTCTAAAACTCAGGGCCAGGCGCAGTGGCTCACACGTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCATCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTTTAATCCCAACTACTGGGGAGGCTGAAGCAAGGAGAATTGCTTGAACCCAGGAGGTGGAAGTTGCAGTGAGCCAAGGTTGTGCCACAGCACTCCAGCCT... | TGTGTGTACTAGCAATTATAGTTTCTTCAAAGGTGCCATTTACTTTCTTCTAAAACTCAGGGCCAGGCGCAGTGGCTCACACGTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCATCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTTTAATCCCAACTACTGGGGAGGCTGAAGCAAGGAGAATTGCTTGAACCCAGGAGGTGGAAGTTGCAGTGAGCCAAGGTTGTGCCACAGCACTCCAGCCT... |
Task1_train_11992 | Here is a mutation in MET (MET proto-oncogene, receptor tyrosine kinase) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hereditary cancer-predisposing syndrome | TGTGTGTACTAGCAATTATAGTTTCTTCAAAGGTGCCATTTACTTTCTTCTAAAACTCAGGGCCAGGCGCAGTGGCTCACACGTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCATCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTTTAATCCCAACTACTGGGGAGGCTGAAGCAAGGAGAATTGCTTGAACCCAGGAGGTGGAAGTTGCAGTGAGCCAAGGTTGTGCCACAGCACTCCAGCCT... | TGTGTGTACTAGCAATTATAGTTTCTTCAAAGGTGCCATTTACTTTCTTCTAAAACTCAGGGCCAGGCGCAGTGGCTCACACGTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCATCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTTTAATCCCAACTACTGGGGAGGCTGAAGCAAGGAGAATTGCTTGAACCCAGGAGGTGGAAGTTGCAGTGAGCCAAGGTTGTGCCACAGCACTCCAGCCT... |
Task1_train_11993 | This variant affects gene MET (MET proto-oncogene, receptor tyrosine kinase) located on Chromosome 7. Evaluate its biological effect and specify any disease association. | Pathogenic; Papillary renal cell carcinoma type 1 | TGTGTGTACTAGCAATTATAGTTTCTTCAAAGGTGCCATTTACTTTCTTCTAAAACTCAGGGCCAGGCGCAGTGGCTCACACGTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCATCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTTTAATCCCAACTACTGGGGAGGCTGAAGCAAGGAGAATTGCTTGAACCCAGGAGGTGGAAGTTGCAGTGAGCCAAGGTTGTGCCACAGCACTCCAGCCT... | TGTGTGTACTAGCAATTATAGTTTCTTCAAAGGTGCCATTTACTTTCTTCTAAAACTCAGGGCCAGGCGCAGTGGCTCACACGTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCATCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTTTAATCCCAACTACTGGGGAGGCTGAAGCAAGGAGAATTGCTTGAACCCAGGAGGTGGAAGTTGCAGTGAGCCAAGGTTGTGCCACAGCACTCCAGCCT... |
Task1_train_11994 | The gene MET (MET proto-oncogene, receptor tyrosine kinase) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Arthrogryposis, distal, IIa 11 | TGTGTGTACTAGCAATTATAGTTTCTTCAAAGGTGCCATTTACTTTCTTCTAAAACTCAGGGCCAGGCGCAGTGGCTCACACGTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCATCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTTTAATCCCAACTACTGGGGAGGCTGAAGCAAGGAGAATTGCTTGAACCCAGGAGGTGGAAGTTGCAGTGAGCCAAGGTTGTGCCACAGCACTCCAGCCT... | TGTGTGTACTAGCAATTATAGTTTCTTCAAAGGTGCCATTTACTTTCTTCTAAAACTCAGGGCCAGGCGCAGTGGCTCACACGTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCATCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTTTAATCCCAACTACTGGGGAGGCTGAAGCAAGGAGAATTGCTTGAACCCAGGAGGTGGAAGTTGCAGTGAGCCAAGGTTGTGCCACAGCACTCCAGCCT... |
Task1_train_11995 | Located on Chromosome 7, this mutation impacts MET (MET proto-oncogene, receptor tyrosine kinase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hepatocellular carcinoma | TGTGTGTACTAGCAATTATAGTTTCTTCAAAGGTGCCATTTACTTTCTTCTAAAACTCAGGGCCAGGCGCAGTGGCTCACACGTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCATCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTTTAATCCCAACTACTGGGGAGGCTGAAGCAAGGAGAATTGCTTGAACCCAGGAGGTGGAAGTTGCAGTGAGCCAAGGTTGTGCCACAGCACTCCAGCCT... | TGTGTGTACTAGCAATTATAGTTTCTTCAAAGGTGCCATTTACTTTCTTCTAAAACTCAGGGCCAGGCGCAGTGGCTCACACGTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCATCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTTTAATCCCAACTACTGGGGAGGCTGAAGCAAGGAGAATTGCTTGAACCCAGGAGGTGGAAGTTGCAGTGAGCCAAGGTTGTGCCACAGCACTCCAGCCT... |
Task1_train_11996 | This alteration in MET (MET proto-oncogene, receptor tyrosine kinase) on Chromosome 7 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 97 | TGTGTGTACTAGCAATTATAGTTTCTTCAAAGGTGCCATTTACTTTCTTCTAAAACTCAGGGCCAGGCGCAGTGGCTCACACGTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCATCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTTTAATCCCAACTACTGGGGAGGCTGAAGCAAGGAGAATTGCTTGAACCCAGGAGGTGGAAGTTGCAGTGAGCCAAGGTTGTGCCACAGCACTCCAGCCT... | TGTGTGTACTAGCAATTATAGTTTCTTCAAAGGTGCCATTTACTTTCTTCTAAAACTCAGGGCCAGGCGCAGTGGCTCACACGTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCATCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTTTAATCCCAACTACTGGGGAGGCTGAAGCAAGGAGAATTGCTTGAACCCAGGAGGTGGAAGTTGCAGTGAGCCAAGGTTGTGCCACAGCACTCCAGCCT... |
Task1_train_11997 | Here’s a variant in MET (MET proto-oncogene, receptor tyrosine kinase) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Osteofibrous dysplasia | TGTGTGTACTAGCAATTATAGTTTCTTCAAAGGTGCCATTTACTTTCTTCTAAAACTCAGGGCCAGGCGCAGTGGCTCACACGTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCATCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTTTAATCCCAACTACTGGGGAGGCTGAAGCAAGGAGAATTGCTTGAACCCAGGAGGTGGAAGTTGCAGTGAGCCAAGGTTGTGCCACAGCACTCCAGCCT... | TGTGTGTACTAGCAATTATAGTTTCTTCAAAGGTGCCATTTACTTTCTTCTAAAACTCAGGGCCAGGCGCAGTGGCTCACACGTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCATCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTTTAATCCCAACTACTGGGGAGGCTGAAGCAAGGAGAATTGCTTGAACCCAGGAGGTGGAAGTTGCAGTGAGCCAAGGTTGTGCCACAGCACTCCAGCCT... |
Task1_train_11998 | The following genetic variant occurs in MET (MET proto-oncogene, receptor tyrosine kinase) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hereditary cancer-predisposing syndrome | TGGTTAAAGCCAGAGAGAACTGGATGAAGTGAGTCAGGGTGAATTTGCTTCATCTGGGCAACTGCCTTTCAGTTTCTGCCAACCTGGATTACGTATTAACCAGTGACTAATGGGGAAATCCTTATTCTATAATACTAATCCTATTTTTAATGGTAACATTTTTATTTCATTTCAGCTTATTAGAATATAGAGAACTTATTTTATTATAGTTCTTCATGTGGGTTAACTTTATTTTCATATTTTAAAATACTATGTCATCCTTTAAAAAAATTTATTTGATGAGGCCGATGTTACTCACCTTTTCAGTGGTTCCACTGTGG... | TGGTTAAAGCCAGAGAGAACTGGATGAAGTGAGTCAGGGTGAATTTGCTTCATCTGGGCAACTGCCTTTCAGTTTCTGCCAACCTGGATTACGTATTAACCAGTGACTAATGGGGAAATCCTTATTCTATAATACTAATCCTATTTTTAATGGTAACATTTTTATTTCATTTCAGCTTATTAGAATATAGAGAACTTATTTTATTATAGTTCTTCATGTGGGTTAACTTTATTTTCATATTTTAAAATACTATGTCATCCTTTAAAAAAATTTATTTGATGAGGCCGATGTTACTCACCTTTTCAGTGGTTCCACTGTGG... |
Task1_train_11999 | Consider this mutation in MET (MET proto-oncogene, receptor tyrosine kinase) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; Renal cell carcinoma | TGGTTAAAGCCAGAGAGAACTGGATGAAGTGAGTCAGGGTGAATTTGCTTCATCTGGGCAACTGCCTTTCAGTTTCTGCCAACCTGGATTACGTATTAACCAGTGACTAATGGGGAAATCCTTATTCTATAATACTAATCCTATTTTTAATGGTAACATTTTTATTTCATTTCAGCTTATTAGAATATAGAGAACTTATTTTATTATAGTTCTTCATGTGGGTTAACTTTATTTTCATATTTTAAAATACTATGTCATCCTTTAAAAAAATTTATTTGATGAGGCCGATGTTACTCACCTTTTCAGTGGTTCCACTGTGG... | TGGTTAAAGCCAGAGAGAACTGGATGAAGTGAGTCAGGGTGAATTTGCTTCATCTGGGCAACTGCCTTTCAGTTTCTGCCAACCTGGATTACGTATTAACCAGTGACTAATGGGGAAATCCTTATTCTATAATACTAATCCTATTTTTAATGGTAACATTTTTATTTCATTTCAGCTTATTAGAATATAGAGAACTTATTTTATTATAGTTCTTCATGTGGGTTAACTTTATTTTCATATTTTAAAATACTATGTCATCCTTTAAAAAAATTTATTTGATGAGGCCGATGTTACTCACCTTTTCAGTGGTTCCACTGTGG... |
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