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_22700 | Assess the clinical impact of this variant on gene BBS2 (Bardet-Biedl syndrome 2), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Bardet-Biedl syndrome 2 | AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTT... | AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTT... |
Task1_train_22701 | A change on Chromosome 16 affects gene BBS2 (Bardet-Biedl syndrome 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Retinitis pigmentosa 74 | AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTT... | AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTT... |
Task1_train_22702 | A genetic alteration is present in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Familial hypokalemia-hypomagnesemia | CCAGACCCTAACTCACCTCTTTCATCCCCTGACAGCTCAAATTTCCACCACTGCCTCCCTGCAATGGCTTAGGCACCTCTGGTAACAAGAGTGCTGCTCCCATGCCACCTGCATGCAAGGTGTGGCCTCAGAGTGCTGGCAAAATCGGGTCCTGATCTGCTCCAGCACTGGTAGGGTGACTGCTCCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGG... | CCAGACCCTAACTCACCTCTTTCATCCCCTGACAGCTCAAATTTCCACCACTGCCTCCCTGCAATGGCTTAGGCACCTCTGGTAACAAGAGTGCTGCTCCCATGCCACCTGCATGCAAGGTGTGGCCTCAGAGTGCTGGCAAAATCGGGTCCTGATCTGCTCCAGCACTGGTAGGGTGACTGCTCCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGG... |
Task1_train_22703 | An alteration has been detected in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Familial hypokalemia-hypomagnesemia | ACTGCTCCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTGGTGGATATGGATTACAATTCTGACCTGCTGAGCTCTGGTTTGGAGTTACTTGTAGATGTCTCTGGAGGTACACATAGACATTGGGAGACAGGTTGGAGCTAGAGAGACTAATGTGTGTGTGTGTGT... | ACTGCTCCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTGGTGGATATGGATTACAATTCTGACCTGCTGAGCTCTGGTTTGGAGTTACTTGTAGATGTCTCTGGAGGTACACATAGACATTGGGAGACAGGTTGGAGCTAGAGAGACTAATGTGTGTGTGTGTGT... |
Task1_train_22704 | A genetic alteration is present in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Familial hypokalemia-hypomagnesemia | CCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTGGTGGATATGGATTACAATTCTGACCTGCTGAGCTCTGGTTTGGAGTTACTTGTAGATGTCTCTGGAGGTACACATAGACATTGGGAGACAGGTTGGAGCTAGAGAGACTAATGTGTGTGTGTGTGTGAGAGT... | CCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTGGTGGATATGGATTACAATTCTGACCTGCTGAGCTCTGGTTTGGAGTTACTTGTAGATGTCTCTGGAGGTACACATAGACATTGGGAGACAGGTTGGAGCTAGAGAGACTAATGTGTGTGTGTGTGTGAGAGT... |
Task1_train_22705 | A mutation found in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | CCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTGGTGGATATGGATTACAATTCTGACCTGCTGAGCTCTGGTTTGGAGTTACTTGTAGATGTCTCTGGAGGTACACATAGACATTGGGAGACAGGTTGGAGCTAGAGAGACTAATGTGTGTGTGTGTGTGAGAGTGTGTGTGTGTGTGTGTGTATATATACACATCTTTTTAAATATTATACCAGCTAAGCGCAGTGGCTCACGCCTGCAATCCCAAC... | CCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTGGTGGATATGGATTACAATTCTGACCTGCTGAGCTCTGGTTTGGAGTTACTTGTAGATGTCTCTGGAGGTACACATAGACATTGGGAGACAGGTTGGAGCTAGAGAGACTAATGTGTGTGTGTGTGTGAGAGTGTGTGTGTGTGTGTGTGTATATATACACATCTTTTTAAATATTATACCAGCTAAGCGCAGTGGCTCACGCCTGCAATCCCAAC... |
Task1_train_22706 | The following genetic variant occurs in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Familial hypokalemia-hypomagnesemia | CTGGAATTACAGGCATGAGCCACCACGCCCAGCCCAGAATTGTTCTTGATTCTGAGGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGC... | CTGGAATTACAGGCATGAGCCACCACGCCCAGCCCAGAATTGTTCTTGATTCTGAGGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGC... |
Task1_train_22707 | This variant affects the gene SLC12A3 (solute carrier family 12 member 3) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Familial hypokalemia-hypomagnesemia | TGTTCTTGATTCTGAGGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCT... | TGTTCTTGATTCTGAGGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCT... |
Task1_train_22708 | This gene mutation involves SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is it associated with any clinical condition, or is it benign? | Pathogenic; Familial hypokalemia-hypomagnesemia | GGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGT... | GGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGT... |
Task1_train_22709 | A genetic alteration is present in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Familial hypokalemia-hypomagnesemia | AACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGG... | AACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGG... |
Task1_train_22710 | A variant on Chromosome 16 in gene SLC12A3 (solute carrier family 12 member 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Familial hypokalemia-hypomagnesemia | ACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGA... | ACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGA... |
Task1_train_22711 | This alteration in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; SLC12A3-related disorder | ACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGA... | ACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGA... |
Task1_train_22712 | Mutation context: Chromosome 16, Gene SLC12A3 (solute carrier family 12 member 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Inborn genetic diseases | ACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGA... | ACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGA... |
Task1_train_22713 | A sequence alteration has been identified in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is it disease-inducing or harmless? | Pathogenic; not provided | GTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGG... | GTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGG... |
Task1_train_22714 | Here is a genetic alteration in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Familial hypokalemia-hypomagnesemia | AGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGC... | AGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGC... |
Task1_train_22715 | This variant impacts the gene SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; Familial hypokalemia-hypomagnesemia | GATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTG... | GATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTG... |
Task1_train_22716 | The gene SLC12A3 (solute carrier family 12 member 3) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Familial hypokalemia-hypomagnesemia | ATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGG... | ATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGG... |
Task1_train_22717 | The gene SLC12A3 (solute carrier family 12 member 3), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Familial hypokalemia-hypomagnesemia | TGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTT... | TGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTT... |
Task1_train_22718 | Located on Chromosome 16, this mutation impacts SLC12A3 (solute carrier family 12 member 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | GGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGG... | GGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGG... |
Task1_train_22719 | This alteration in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Familial hypokalemia-hypomagnesemia | AAAGTGCCTAGAAGAGTGGAACACATGCTGTGTTCGTGAAGGCTTGTGATCACTGTTAAGAAAATACGAGCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACT... | AAAGTGCCTAGAAGAGTGGAACACATGCTGTGTTCGTGAAGGCTTGTGATCACTGTTAAGAAAATACGAGCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACT... |
Task1_train_22720 | A variant was discovered on Chromosome 16, affecting SLC12A3 (solute carrier family 12 member 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | AAGTGCCTAGAAGAGTGGAACACATGCTGTGTTCGTGAAGGCTTGTGATCACTGTTAAGAAAATACGAGCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTG... | AAGTGCCTAGAAGAGTGGAACACATGCTGTGTTCGTGAAGGCTTGTGATCACTGTTAAGAAAATACGAGCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTG... |
Task1_train_22721 | The gene SLC12A3 (solute carrier family 12 member 3) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | CGAGCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAAT... | CGAGCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAAT... |
Task1_train_22722 | This mutation occurs in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Familial hypokalemia-hypomagnesemia | GAGCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATA... | GAGCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATA... |
Task1_train_22723 | Assess the clinical impact of this variant on gene SLC12A3 (solute carrier family 12 member 3), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Familial hypokalemia-hypomagnesemia | GGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCA... | GGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCA... |
Task1_train_22724 | A genetic alteration is present in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Familial hypokalemia-hypomagnesemia | CTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAG... | CTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAG... |
Task1_train_22725 | This variant lies on Chromosome 16 and affects the gene SLC12A3 (solute carrier family 12 member 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Inborn genetic diseases | AGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGG... | AGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGG... |
Task1_train_22726 | A mutation on Chromosome 16 affecting SLC12A3 (solute carrier family 12 member 3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Familial aortopathy | AGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGG... | AGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGG... |
Task1_train_22727 | A genetic alteration is present in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Familial hypokalemia-hypomagnesemia | AGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGG... | AGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGG... |
Task1_train_22728 | Located on Chromosome 16, this mutation impacts SLC12A3 (solute carrier family 12 member 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Familial hypokalemia-hypomagnesemia | GTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCC... | GTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCC... |
Task1_train_22729 | A sequence alteration has been identified in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is it disease-inducing or harmless? | Pathogenic; Familial hypokalemia-hypomagnesemia | CTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCC... | CTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCC... |
Task1_train_22730 | This alteration occurs within gene SLC12A3 (solute carrier family 12 member 3) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Familial hypokalemia-hypomagnesemia | GGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCT... | GGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCT... |
Task1_train_22731 | Here is a mutation in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | GAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCA... | GAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCA... |
Task1_train_22732 | Given this variant in gene SLC12A3 (solute carrier family 12 member 3) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Familial hypokalemia-hypomagnesemia | AAAACAGTGTGACAGCCACTACCCTTGGTCATCCCATAGCCTGATGGGGTCTACTCTCACACTGACCCCCACTGTCTTAAAAGCTGGGCGCTTACAGTTTACAAGACACCATCCCTTTGAGCTTCACAAAAGGATGGACCCATCTCACAGATGAGGTGGACCCATTTCACAGATGAGAAGGTTGAGACTGACTGAGCCTTGGTGGCCTGTCTGGGGTCCCCCACCCTGGGAAGGAGGGTGCCAAGCCAGTCCTTGGCAGAGTTGCCCAACAGGCTGTCCTCTCTCTCCCTGGGTCCCCGAAGCTGAGCTCAACACCATAG... | AAAACAGTGTGACAGCCACTACCCTTGGTCATCCCATAGCCTGATGGGGTCTACTCTCACACTGACCCCCACTGTCTTAAAAGCTGGGCGCTTACAGTTTACAAGACACCATCCCTTTGAGCTTCACAAAAGGATGGACCCATCTCACAGATGAGGTGGACCCATTTCACAGATGAGAAGGTTGAGACTGACTGAGCCTTGGTGGCCTGTCTGGGGTCCCCCACCCTGGGAAGGAGGGTGCCAAGCCAGTCCTTGGCAGAGTTGCCCAACAGGCTGTCCTCTCTCTCCCTGGGTCCCCGAAGCTGAGCTCAACACCATAG... |
Task1_train_22733 | Consider a variant on Chromosome 16 in gene SLC12A3 (solute carrier family 12 member 3). Determine its clinical classification and disease relevance. | Pathogenic; Familial hypokalemia-hypomagnesemia | TTGAGGAAGACTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGAC... | TTGAGGAAGACTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGAC... |
Task1_train_22734 | Gene SLC12A3 (solute carrier family 12 member 3) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Familial hypokalemia-hypomagnesemia | TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAAT... | TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAAT... |
Task1_train_22735 | The gene SLC12A3 (solute carrier family 12 member 3), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Familial hypokalemia-hypomagnesemia | CTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAG... | CTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAG... |
Task1_train_22736 | The gene SLC12A3 (solute carrier family 12 member 3), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Familial hypokalemia-hypomagnesemia | TGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGA... | TGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGA... |
Task1_train_22737 | This gene mutation involves SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is it associated with any clinical condition, or is it benign? | Pathogenic; Familial hypokalemia-hypomagnesemia | CACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGGGCCAGCAGGCTGCTGTGCACACCTAGGCCTCAGAGGTGGCTGAGGGCTGGTTGTGTGGATGGCAGGCAGACAAAGCTTGGACTCCGGGCAAGGTCTCTACTTGGCTGCAGGCAGGGACCCTGGGGTGGCAGCGACCTGAGGGCAGGAAACAGGACTCTAAGAAAGCCTGGGATTCTAAGTGTCAACCTGGGCTTCTAGGCCATTGCAAAGGTTTGGCAAGGCAGGAG... | CACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGGGCCAGCAGGCTGCTGTGCACACCTAGGCCTCAGAGGTGGCTGAGGGCTGGTTGTGTGGATGGCAGGCAGACAAAGCTTGGACTCCGGGCAAGGTCTCTACTTGGCTGCAGGCAGGGACCCTGGGGTGGCAGCGACCTGAGGGCAGGAAACAGGACTCTAAGAAAGCCTGGGATTCTAAGTGTCAACCTGGGCTTCTAGGCCATTGCAAAGGTTTGGCAAGGCAGGAG... |
Task1_train_22738 | A mutation found in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Familial hypokalemia-hypomagnesemia | ACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGCAGGAAGAGCCCCAAAAGTC... | ACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGCAGGAAGAGCCCCAAAAGTC... |
Task1_train_22739 | An alteration has been detected in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | AAAAAAAAAAAAAGATGTAATAGAAAACCAGGAAAGAGGGGAGAGGAAAATGCCTGCAGGAAGATGCCAGAATATGAAAATACATAATGACCATGGGAACCGGGCATTTTGGTCCACTGAGTAGGGATGTGTTTTGCATTTTAAAGTCATATATGACTGCAGACTCTGAATTAGAAATATTTAGAGAGGCTGGGTGTGGTGGCTCGTTTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCGCTTGAGTCTAGGAGTTCAACACCAGCCTGGGTAACATAGCAAGACCCCATCTCTACTAAAACAAAAAATT... | AAAAAAAAAAAAAGATGTAATAGAAAACCAGGAAAGAGGGGAGAGGAAAATGCCTGCAGGAAGATGCCAGAATATGAAAATACATAATGACCATGGGAACCGGGCATTTTGGTCCACTGAGTAGGGATGTGTTTTGCATTTTAAAGTCATATATGACTGCAGACTCTGAATTAGAAATATTTAGAGAGGCTGGGTGTGGTGGCTCGTTTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCGCTTGAGTCTAGGAGTTCAACACCAGCCTGGGTAACATAGCAAGACCCCATCTCTACTAAAACAAAAAATT... |
Task1_train_22740 | The gene SLC12A3 (solute carrier family 12 member 3), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Familial hypokalemia-hypomagnesemia | CCACCTAGCAGGCTCTGGGGCCCTTGTCCCACCCCTGCCAAGGCCCCTCTAGCCATGCAGGGTGGGGTGGGATTTTCCTTCGTCCTCTCCCACCATCACTCCGGGAGACAGGGGGCCTGAAGTGCAGGCGGGAGGGCTGCTGTGGGCATTTGTGAAGGGTGCAGGAGGTGTTTAAGGGAATGGAGAGTGCACTTCCCTACCTACCCAGAGGGCTCTGGGACTGCCCCCACCCCCAGTACTCACCAGAATCCCGGGAGAGAGAAGCTGAAAGCAGGGCAGGGGCACATCACAGCACTGAGCGTCCTGGGCCCCGGTTCCTG... | CCACCTAGCAGGCTCTGGGGCCCTTGTCCCACCCCTGCCAAGGCCCCTCTAGCCATGCAGGGTGGGGTGGGATTTTCCTTCGTCCTCTCCCACCATCACTCCGGGAGACAGGGGGCCTGAAGTGCAGGCGGGAGGGCTGCTGTGGGCATTTGTGAAGGGTGCAGGAGGTGTTTAAGGGAATGGAGAGTGCACTTCCCTACCTACCCAGAGGGCTCTGGGACTGCCCCCACCCCCAGTACTCACCAGAATCCCGGGAGAGAGAAGCTGAAAGCAGGGCAGGGGCACATCACAGCACTGAGCGTCCTGGGCCCCGGTTCCTG... |
Task1_train_22741 | The gene SLC12A3 (solute carrier family 12 member 3) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Familial hypokalemia-hypomagnesemia | CTCACCCCCACTAAGAACTTTCTCCTGGGAAAGCCCCTTTTCTGCAATGCTAAGGAAAGTGTTGCTTGGGAAAAGCAGCATCTGCCTTCTCTGTGATCTCCAAAAAGTAAATAAGATACGAGATTGCTCTGCAGTCTCTGCTCCCTGTCCTGGCTCTGAATGGAAGCTGGGTTCAGTAGGTTTGGTATAGCTCAAGGCTATGGAAGCCTGGGCTAACAGCATGTCCTTGGTGGGAAGGTTAGGTAACCCTTCCTCTGCCTCCCTCTGTCCCTTGGTGGGCCGCATCCTCTGCTCTCTACATAATCCTGGGGCAAGTCTAT... | CTCACCCCCACTAAGAACTTTCTCCTGGGAAAGCCCCTTTTCTGCAATGCTAAGGAAAGTGTTGCTTGGGAAAAGCAGCATCTGCCTTCTCTGTGATCTCCAAAAAGTAAATAAGATACGAGATTGCTCTGCAGTCTCTGCTCCCTGTCCTGGCTCTGAATGGAAGCTGGGTTCAGTAGGTTTGGTATAGCTCAAGGCTATGGAAGCCTGGGCTAACAGCATGTCCTTGGTGGGAAGGTTAGGTAACCCTTCCTCTGCCTCCCTCTGTCCCTTGGTGGGCCGCATCCTCTGCTCTCTACATAATCCTGGGGCAAGTCTAT... |
Task1_train_22742 | A variant has been detected on Chromosome 16 in SLC12A3 (solute carrier family 12 member 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Familial hypokalemia-hypomagnesemia | GTGGAAAAGCAAAGCCTTGCGAAAGGCTGGCCTTGATGATCAAAAAGAGATCAGGGAGATCTTCCAGGAAGAAGAGACAGCAGGAGCAACATACAGACCCCATCTAGCATCTGATTTTTATTTATTTATTTATTTATTTATTTATGAGATAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGAGCACACCACTGTGCCCGGCTAAATTTGGTATTTTTAGTAGAGATGGGG... | GTGGAAAAGCAAAGCCTTGCGAAAGGCTGGCCTTGATGATCAAAAAGAGATCAGGGAGATCTTCCAGGAAGAAGAGACAGCAGGAGCAACATACAGACCCCATCTAGCATCTGATTTTTATTTATTTATTTATTTATTTATTTATGAGATAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGAGCACACCACTGTGCCCGGCTAAATTTGGTATTTTTAGTAGAGATGGGG... |
Task1_train_22743 | Located on Chromosome 16, this mutation impacts SLC12A3 (solute carrier family 12 member 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Familial hypokalemia-hypomagnesemia | ACATGATTGCACCCTTCCGTCTGAATGATGGCTTCAAGGATGAGGCCACTGTCAACGAGATGCGGCGGGACTGCCCCTGGAAGATCTCAGATGAGGAGATTACGAAGAACAGAGTCAAGGTGCAGAGAGGGGTGGGGGTGGGAAACGCGACACATCACTGGGTCAGGGACGGGTGTCCTGCATGTCTTGAGCTCCCCCAGCCCCTCCCCTCGATCCTCCACCCTGCCTTCCACTCCGGCCCCTGAGGTATCCTCAAGCCACAGTCGTTCAGGCTGATGGGTAACCCGGCTGTGGAACTCAGTGCTATCCTTGACCTGGGA... | ACATGATTGCACCCTTCCGTCTGAATGATGGCTTCAAGGATGAGGCCACTGTCAACGAGATGCGGCGGGACTGCCCCTGGAAGATCTCAGATGAGGAGATTACGAAGAACAGAGTCAAGGTGCAGAGAGGGGTGGGGGTGGGAAACGCGACACATCACTGGGTCAGGGACGGGTGTCCTGCATGTCTTGAGCTCCCCCAGCCCCTCCCCTCGATCCTCCACCCTGCCTTCCACTCCGGCCCCTGAGGTATCCTCAAGCCACAGTCGTTCAGGCTGATGGGTAACCCGGCTGTGGAACTCAGTGCTATCCTTGACCTGGGA... |
Task1_train_22744 | The gene LOC126862361, SLC12A3 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:56946332-56947531| solute carrier family 12 member 3), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | GCCTTGGTCCAACCCACCTTCCCTAATTTTTGAGACCTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCAATCATGCTCACTGCAGCCTCGACCTCCCAGGCTCAAACGATCCTCCCGCCTCAGCATCCTGAGGAGCTGGGACCACAGGCGTGTGCCATCATGCCCAGCTAATTTTTCTATTTTTTGTAAAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGT... | GCCTTGGTCCAACCCACCTTCCCTAATTTTTGAGACCTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCAATCATGCTCACTGCAGCCTCGACCTCCCAGGCTCAAACGATCCTCCCGCCTCAGCATCCTGAGGAGCTGGGACCACAGGCGTGTGCCATCATGCCCAGCTAATTTTTCTATTTTTTGTAAAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGT... |
Task1_train_22745 | The gene LOC126862361, SLC12A3 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:56946332-56947531| solute carrier family 12 member 3) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Familial hypokalemia-hypomagnesemia | TTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCAATCATGCTCACTGCAGCCTCGACCTCCCAGGCTCAAACGATCCTCCCGCCTCAGCATCCTGAGGAGCTGGGACCACAGGCGTGTGCCATCATGCCCAGCTAATTTTTCTATTTTTTGTAAAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCATGCCTGGCCCGGGACATTGCTTTTT... | TTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCAATCATGCTCACTGCAGCCTCGACCTCCCAGGCTCAAACGATCCTCCCGCCTCAGCATCCTGAGGAGCTGGGACCACAGGCGTGTGCCATCATGCCCAGCTAATTTTTCTATTTTTTGTAAAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCATGCCTGGCCCGGGACATTGCTTTTT... |
Task1_train_22746 | A sequence alteration has been identified in LOC126862361, SLC12A3 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:56946332-56947531| solute carrier family 12 member 3) on Chromosome 16. Is it disease-inducing or harmless? | Pathogenic; Familial hypokalemia-hypomagnesemia | TTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCAATCATGCTCACTGCAGCCTCGACCTCCCAGGCTCAAACGATCCTCCCGCCTCAGCATCCTGAGGAGCTGGGACCACAGGCGTGTGCCATCATGCCCAGCTAATTTTTCTATTTTTTGTAAAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCATGCCTGGCCCGGGACATTGCTTTTTAAAGGAGGGTAGGGCTTGTCCCAG... | TTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCAATCATGCTCACTGCAGCCTCGACCTCCCAGGCTCAAACGATCCTCCCGCCTCAGCATCCTGAGGAGCTGGGACCACAGGCGTGTGCCATCATGCCCAGCTAATTTTTCTATTTTTTGTAAAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCATGCCTGGCCCGGGACATTGCTTTTTAAAGGAGGGTAGGGCTTGTCCCAG... |
Task1_train_22747 | This genomic variant is located on Chromosome 16, within the RSPRY1 (ring finger and SPRY domain containing 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | AGCCATTGCTGTCTTAATAGTGAAAACGTCTGTTGCCTCTCATTTCCTTTATCCTTTTCTTTCTCCTGTCTTGTTCCATCCCATTCCATTCTTTTCTCTCCCTTCCCTTTGCCTCCTCCCTCTTTATATATATTTTATTACATATGATTATATATATATATATATATATATATATATCTGAAGACTTTCTGTCTCCATTTTTCTCTTTTTCTTCTATGTTTTCCCTGTAGCAGTAATCAAACTGGGAAAATAAAAAGAATTTTGCCATGAATCTGTCTAAAATAATGGAAATAGGCTGGGCACAGTGGCTCACACCTGTA... | AGCCATTGCTGTCTTAATAGTGAAAACGTCTGTTGCCTCTCATTTCCTTTATCCTTTTCTTTCTCCTGTCTTGTTCCATCCCATTCCATTCTTTTCTCTCCCTTCCCTTTGCCTCCTCCCTCTTTATATATATTTTATTACATATGATTATATATATATATATATATATATATATATCTGAAGACTTTCTGTCTCCATTTTTCTCTTTTTCTTCTATGTTTTCCCTGTAGCAGTAATCAAACTGGGAAAATAAAAAGAATTTTGCCATGAATCTGTCTAAAATAATGGAAATAGGCTGGGCACAGTGGCTCACACCTGTA... |
Task1_train_22748 | A variant on Chromosome 16 in gene RSPRY1 (ring finger and SPRY domain containing 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | TTAGGAATGCAAGGATGGTACAATTACAGAAATCTTAGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACAAGGCCAGGAGTTTGAGACCAGCCTGGCCAAGACAGTGAAACCCCGTCTCTACTACAAATACAAAAAAAATTACCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAAAGAATTGCTTAAACCTGGGAGGTGGAGGTTGCAGTGAGCAGAGATCGTGCCACTGCACTCCAGCCCAGGCAAAGGCAGGTTTTTTTGAGATG... | TTAGGAATGCAAGGATGGTACAATTACAGAAATCTTAGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACAAGGCCAGGAGTTTGAGACCAGCCTGGCCAAGACAGTGAAACCCCGTCTCTACTACAAATACAAAAAAAATTACCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAAAGAATTGCTTAAACCTGGGAGGTGGAGGTTGCAGTGAGCAGAGATCGTGCCACTGCACTCCAGCCCAGGCAAAGGCAGGTTTTTTTGAGATG... |
Task1_train_22749 | A variant was discovered in gene COQ9, LOC112469007 (coenzyme Q9| Sharpr-MPRA regulatory region 5957), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | AAAACATAAAATTAACTAACTGAAGCTCTTGTGCACATACATGTCACTGCCTGGCCTCTGGGTGACCAGTACCAAGTGGGCCTAACCAGCCTGCTGTGCAATCCAAGTCAGCCATTGCCCCTCTCTGGGCCTCAGTTTCCCTGCCAGCTTTAGCAGAATGGTAGGAAGGCACAATTACAACCTGCAAATGAGACCTAAGAAACCTACTATGTGCCTGTCCCTACACGGGAGACAGACAAGAAGACACTTGTTCCCTGCCCTCAAGAGAACGCTCTGTCTAGACACTTAGACTAAGACCTTAGAGGTTTTTTTTTTTTTTT... | AAAACATAAAATTAACTAACTGAAGCTCTTGTGCACATACATGTCACTGCCTGGCCTCTGGGTGACCAGTACCAAGTGGGCCTAACCAGCCTGCTGTGCAATCCAAGTCAGCCATTGCCCCTCTCTGGGCCTCAGTTTCCCTGCCAGCTTTAGCAGAATGGTAGGAAGGCACAATTACAACCTGCAAATGAGACCTAAGAAACCTACTATGTGCCTGTCCCTACACGGGAGACAGACAAGAAGACACTTGTTCCCTGCCCTCAAGAGAACGCTCTGTCTAGACACTTAGACTAAGACCTTAGAGGTTTTTTTTTTTTTTT... |
Task1_train_22750 | Given this variant in gene ADGRG1 (adhesion G protein-coupled receptor G1) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | GGTCATGATAGGAAGCGCCCTTCCCCTCTGGCTCCTGTAGAGGGCGTCGCGGATGCATTGATCCTTTAGTTCCTTCACTGTCCATCCCCACAGCCTTTATCCAGCAACCTCTGTACAGCCAGGGCCTGCCCACAGAGATGGATCAGGTGCTCCCTGGCTGACCAAGGAGGAGGGAATGCACGTCTCCCACTACCTGGAGGAGGCTACTGGGGGTGGGGAGGGGCTTTGGCCAGTGGTGTGAACCAAAGGAGGCTGGGACTGACTCTGGAGGGAGTTGAGGAGGGCTTCCTGGAGGAGGTGTCCTCTGAGCTAGGTCTCAG... | GGTCATGATAGGAAGCGCCCTTCCCCTCTGGCTCCTGTAGAGGGCGTCGCGGATGCATTGATCCTTTAGTTCCTTCACTGTCCATCCCCACAGCCTTTATCCAGCAACCTCTGTACAGCCAGGGCCTGCCCACAGAGATGGATCAGGTGCTCCCTGGCTGACCAAGGAGGAGGGAATGCACGTCTCCCACTACCTGGAGGAGGCTACTGGGGGTGGGGAGGGGCTTTGGCCAGTGGTGTGAACCAAAGGAGGCTGGGACTGACTCTGGAGGGAGTTGAGGAGGGCTTCCTGGAGGAGGTGTCCTCTGAGCTAGGTCTCAG... |
Task1_train_22751 | This alteration occurs within gene ADGRG1 (adhesion G protein-coupled receptor G1) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Bilateral frontoparietal polymicrogyria | TCCCTGGCTGACCAAGGAGGAGGGAATGCACGTCTCCCACTACCTGGAGGAGGCTACTGGGGGTGGGGAGGGGCTTTGGCCAGTGGTGTGAACCAAAGGAGGCTGGGACTGACTCTGGAGGGAGTTGAGGAGGGCTTCCTGGAGGAGGTGTCCTCTGAGCTAGGTCTCAGGAATGATGATAGGGAGGTAGCTGGGGAGAACTCTGGGAGCCCCCTTTTTTCTGTGTTCCCTCCGGGCCTGGAGGGGCAAGGTGGTGACGGTTCCAGGTAGAACCCTCATGCCAGATTCTAGATAAGATAATCCCGTCACTCTGGGTTCAG... | TCCCTGGCTGACCAAGGAGGAGGGAATGCACGTCTCCCACTACCTGGAGGAGGCTACTGGGGGTGGGGAGGGGCTTTGGCCAGTGGTGTGAACCAAAGGAGGCTGGGACTGACTCTGGAGGGAGTTGAGGAGGGCTTCCTGGAGGAGGTGTCCTCTGAGCTAGGTCTCAGGAATGATGATAGGGAGGTAGCTGGGGAGAACTCTGGGAGCCCCCTTTTTTCTGTGTTCCCTCCGGGCCTGGAGGGGCAAGGTGGTGACGGTTCCAGGTAGAACCCTCATGCCAGATTCTAGATAAGATAATCCCGTCACTCTGGGTTCAG... |
Task1_train_22752 | Consider a variant on Chromosome 16 in gene ADGRG1 (adhesion G protein-coupled receptor G1). Determine its clinical classification and disease relevance. | Pathogenic; Bilateral frontoparietal polymicrogyria | CCTGGCTGACCAAGGAGGAGGGAATGCACGTCTCCCACTACCTGGAGGAGGCTACTGGGGGTGGGGAGGGGCTTTGGCCAGTGGTGTGAACCAAAGGAGGCTGGGACTGACTCTGGAGGGAGTTGAGGAGGGCTTCCTGGAGGAGGTGTCCTCTGAGCTAGGTCTCAGGAATGATGATAGGGAGGTAGCTGGGGAGAACTCTGGGAGCCCCCTTTTTTCTGTGTTCCCTCCGGGCCTGGAGGGGCAAGGTGGTGACGGTTCCAGGTAGAACCCTCATGCCAGATTCTAGATAAGATAATCCCGTCACTCTGGGTTCAGGA... | CCTGGCTGACCAAGGAGGAGGGAATGCACGTCTCCCACTACCTGGAGGAGGCTACTGGGGGTGGGGAGGGGCTTTGGCCAGTGGTGTGAACCAAAGGAGGCTGGGACTGACTCTGGAGGGAGTTGAGGAGGGCTTCCTGGAGGAGGTGTCCTCTGAGCTAGGTCTCAGGAATGATGATAGGGAGGTAGCTGGGGAGAACTCTGGGAGCCCCCTTTTTTCTGTGTTCCCTCCGGGCCTGGAGGGGCAAGGTGGTGACGGTTCCAGGTAGAACCCTCATGCCAGATTCTAGATAAGATAATCCCGTCACTCTGGGTTCAGGA... |
Task1_train_22753 | The following genetic variant occurs in ADGRG1 (adhesion G protein-coupled receptor G1) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Bilateral frontoparietal polymicrogyria | GCTGTGAGCACTCCCTGAAGCTCAGTGCCGTCGCAGCCTCTCCCTGGGGCCTCCCGAGAAGGTTCCAGGCCCGAGGATAGCCATCCTAAGTCAGTAGTTCAACCGTGGGATTGAGGACCCTGTGTGGGCACAGTGGCAGGGTCTGCTTCCTATACCAGTCTCCTGGGGCCACCCGTGTGAACAGAAGACCAGCCCCTAAACGCCTGTCCACGCACCCCCCCCCCCCGTTTTTTTTTTTTCGAGACAGGGTCTTGCTTTGTCACCCAGACTGGAGTACAGTGGGGTAATCATGTCTCACTGCAGCCTCAAACTCCTGGTCT... | GCTGTGAGCACTCCCTGAAGCTCAGTGCCGTCGCAGCCTCTCCCTGGGGCCTCCCGAGAAGGTTCCAGGCCCGAGGATAGCCATCCTAAGTCAGTAGTTCAACCGTGGGATTGAGGACCCTGTGTGGGCACAGTGGCAGGGTCTGCTTCCTATACCAGTCTCCTGGGGCCACCCGTGTGAACAGAAGACCAGCCCCTAAACGCCTGTCCACGCACCCCCCCCCCCCGTTTTTTTTTTTTCGAGACAGGGTCTTGCTTTGTCACCCAGACTGGAGTACAGTGGGGTAATCATGTCTCACTGCAGCCTCAAACTCCTGGTCT... |
Task1_train_22754 | Here is a variant affecting KATNB1 (katanin regulatory subunit B1) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Lissencephaly 6 with microcephaly | GAACAGGGACAAAGTCCTCCTGCCACGGGGGACCATCTGCAGGCAAAGTGAAGAATGAGGAGCTTCGGCAAAATGCCGACTAAGGCCTCCTTAGGTTTTGCCCCACTCCAAGATGGAAGGCCTGAGGCTTCACACTGCCCCCGAAGTTCCTTTCCCATTGGCTATCTGGGAATTGAGTTTTCCAATAATGCGGACGCTGATTGGTCAATCCAGGACGGTTGCTCAAGCCATTGGCGCAGCCGCCATTGGAGGGCGGCTCTCAAAAGTTTTCAGACACAAATTAGGTTCGAGGGAGGAAACGGAGAGGAAAGGGAAAACTT... | GAACAGGGACAAAGTCCTCCTGCCACGGGGGACCATCTGCAGGCAAAGTGAAGAATGAGGAGCTTCGGCAAAATGCCGACTAAGGCCTCCTTAGGTTTTGCCCCACTCCAAGATGGAAGGCCTGAGGCTTCACACTGCCCCCGAAGTTCCTTTCCCATTGGCTATCTGGGAATTGAGTTTTCCAATAATGCGGACGCTGATTGGTCAATCCAGGACGGTTGCTCAAGCCATTGGCGCAGCCGCCATTGGAGGGCGGCTCTCAAAAGTTTTCAGACACAAATTAGGTTCGAGGGAGGAAACGGAGAGGAAAGGGAAAACTT... |
Task1_train_22755 | A genomic change on Chromosome 16 affects KATNB1 (katanin regulatory subunit B1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Lissencephaly 6 with microcephaly | GAGGGGAGTGATGTGGGCTCCTCCAGAAGGGCCCAACTTCTAAATCTTTCTCACTCCAAAGTCTGCGGTTTTGCCAGCTCAGTGTCCCGCCCCCACCACCATCTGATTATACTGGGGCATATTTCGTGCAAGGCCTAGAACAGGCACCCAGGAAATACTGATATTATGAATGAATGCCCCTGACTCCAGGGGCAGCAGTCCTGAGGCCCAGTGAGGTGGGGCCCAGCCAGACACTTTCCCTGGGAGGAGTGAGGGCCAGGGGACAGACAGAGCCCTCCAGGTAGGCCAGGGGGAGCGAGCAGTGCCTCCACGGAGAGGAC... | GAGGGGAGTGATGTGGGCTCCTCCAGAAGGGCCCAACTTCTAAATCTTTCTCACTCCAAAGTCTGCGGTTTTGCCAGCTCAGTGTCCCGCCCCCACCACCATCTGATTATACTGGGGCATATTTCGTGCAAGGCCTAGAACAGGCACCCAGGAAATACTGATATTATGAATGAATGCCCCTGACTCCAGGGGCAGCAGTCCTGAGGCCCAGTGAGGTGGGGCCCAGCCAGACACTTTCCCTGGGAGGAGTGAGGGCCAGGGGACAGACAGAGCCCTCCAGGTAGGCCAGGGGGAGCGAGCAGTGCCTCCACGGAGAGGAC... |
Task1_train_22756 | Here is a variant affecting KATNB1 (katanin regulatory subunit B1) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Lissencephaly 6 with microcephaly | GTCTGCAGCCGCATGCCTGGGAGCTACCCTCCGTCCCCCGCACTCTGGACAGGGCCCTGGGTCCCAGGTGGCCTGGCCAGGAGCGCTCACAGCCAGGGGCCTCTTTCCTCTGCAGGTCGGACGCCACCCCGGAGAAGTGAGCCCTTCCCTGCACCCCCAGAGGACGGTGAGTTGGGTGAGCCTGGTTTCCCAAGGTCTCTGATGCCCCCCCGTCCCTCATCTTCTCTTCCTGTGAACCCTCCCAACAAGCCCCTTCCCAGGACCCTCCCCTCTCAGGACACGACCCACACCCTCTCCCGCTGGGTCTCTGCCCTCTGCCT... | GTCTGCAGCCGCATGCCTGGGAGCTACCCTCCGTCCCCCGCACTCTGGACAGGGCCCTGGGTCCCAGGTGGCCTGGCCAGGAGCGCTCACAGCCAGGGGCCTCTTTCCTCTGCAGGTCGGACGCCACCCCGGAGAAGTGAGCCCTTCCCTGCACCCCCAGAGGACGGTGAGTTGGGTGAGCCTGGTTTCCCAAGGTCTCTGATGCCCCCCCGTCCCTCATCTTCTCTTCCTGTGAACCCTCCCAACAAGCCCCTTCCCAGGACCCTCCCCTCTCAGGACACGACCCACACCCTCTCCCGCTGGGTCTCTGCCCTCTGCCT... |
Task1_train_22757 | With a mutation on Chromosome 16 in gene KATNB1 (katanin regulatory subunit B1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Lissencephaly 6 with microcephaly | CCTGGGAGCTACCCTCCGTCCCCCGCACTCTGGACAGGGCCCTGGGTCCCAGGTGGCCTGGCCAGGAGCGCTCACAGCCAGGGGCCTCTTTCCTCTGCAGGTCGGACGCCACCCCGGAGAAGTGAGCCCTTCCCTGCACCCCCAGAGGACGGTGAGTTGGGTGAGCCTGGTTTCCCAAGGTCTCTGATGCCCCCCCGTCCCTCATCTTCTCTTCCTGTGAACCCTCCCAACAAGCCCCTTCCCAGGACCCTCCCCTCTCAGGACACGACCCACACCCTCTCCCGCTGGGTCTCTGCCCTCTGCCTGTTATGTGCCAGGTC... | CCTGGGAGCTACCCTCCGTCCCCCGCACTCTGGACAGGGCCCTGGGTCCCAGGTGGCCTGGCCAGGAGCGCTCACAGCCAGGGGCCTCTTTCCTCTGCAGGTCGGACGCCACCCCGGAGAAGTGAGCCCTTCCCTGCACCCCCAGAGGACGGTGAGTTGGGTGAGCCTGGTTTCCCAAGGTCTCTGATGCCCCCCCGTCCCTCATCTTCTCTTCCTGTGAACCCTCCCAACAAGCCCCTTCCCAGGACCCTCCCCTCTCAGGACACGACCCACACCCTCTCCCGCTGGGTCTCTGCCCTCTGCCTGTTATGTGCCAGGTC... |
Task1_train_22758 | A variant affecting Chromosome 16, within the gene CNGB1 (cyclic nucleotide gated channel subunit beta 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Retinitis pigmentosa 45 | AAAAGTGCCCACTGGCCAAACTGGACTAATTTGAGCATCAAAATAATGATTGTTAACAGAGTATTCATGGAATCAAGTAAATCCATGCCTATATACATTGAGAAATGAATAAACAAATGGGAGAGAAGAGAAAGCTCTTCCACACAGCTGACTGCCAGCTAATAATCAAGGAGGGAGTGGAGTTACAAAATTTCCATTTTACAACTATCATAGCAATCTCTTTGTAACTATCATAGGGAGGAACCATCAAAGGATGCTAAAAGCAGTGGGTAAAAGTTTGACAGGGAACAGGATATCCTCATAGTCTGAAGGTGACTACC... | AAAAGTGCCCACTGGCCAAACTGGACTAATTTGAGCATCAAAATAATGATTGTTAACAGAGTATTCATGGAATCAAGTAAATCCATGCCTATATACATTGAGAAATGAATAAACAAATGGGAGAGAAGAGAAAGCTCTTCCACACAGCTGACTGCCAGCTAATAATCAAGGAGGGAGTGGAGTTACAAAATTTCCATTTTACAACTATCATAGCAATCTCTTTGTAACTATCATAGGGAGGAACCATCAAAGGATGCTAAAAGCAGTGGGTAAAAGTTTGACAGGGAACAGGATATCCTCATAGTCTGAAGGTGACTACC... |
Task1_train_22759 | This variant impacts the gene CNGB1 (cyclic nucleotide gated channel subunit beta 1) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; Retinal dystrophy | ACATGCCCAGCTAAATTTTTTGACTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAAAACTATTTTACTAAATCCCCTAAGCAACCCAAGAGGTGCCCTACTATAATATCGACTTTATAGATGAGCAAATGGCAGTGACATGCCCGTAGTCTTGTAGCTCGAGGGATAAACTCAGGACCCCAACCTGGCTGTGGAGCTCTAGAGCTGCCCCAGGAGATCCAGGGCTAAGCCTGCTGCACCCATCATG... | ACATGCCCAGCTAAATTTTTTGACTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAAAACTATTTTACTAAATCCCCTAAGCAACCCAAGAGGTGCCCTACTATAATATCGACTTTATAGATGAGCAAATGGCAGTGACATGCCCGTAGTCTTGTAGCTCGAGGGATAAACTCAGGACCCCAACCTGGCTGTGGAGCTCTAGAGCTGCCCCAGGAGATCCAGGGCTAAGCCTGCTGCACCCATCATG... |
Task1_train_22760 | This alteration occurs within gene CNGB1 (cyclic nucleotide gated channel subunit beta 1) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Retinal dystrophy | CTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAAAACTATTTTACTAAATCCCCTAAGCAACCCAAGAGGTGCCCTACTATAATATCGACTTTATAGATGAGCAAATGGCAGTGACATGCCCGTAGTCTTGTAGCTCGAGGGATAAACTCAGGACCCCAACCTGGCTGTGGAGCTCTAGAGCTGCCCCAGGAGATCCAGGGCTAAGCCTGCTGCACCCATCATGGGGTGTGCAATGCCCTGAGAGAAAGCGAGGAGAGAGGAGAGAGAGAGGGAAGGAGGGAGA... | CTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAAAACTATTTTACTAAATCCCCTAAGCAACCCAAGAGGTGCCCTACTATAATATCGACTTTATAGATGAGCAAATGGCAGTGACATGCCCGTAGTCTTGTAGCTCGAGGGATAAACTCAGGACCCCAACCTGGCTGTGGAGCTCTAGAGCTGCCCCAGGAGATCCAGGGCTAAGCCTGCTGCACCCATCATGGGGTGTGCAATGCCCTGAGAGAAAGCGAGGAGAGAGGAGAGAGAGAGGGAAGGAGGGAGA... |
Task1_train_22761 | This alteration occurs within gene CNGB1 (cyclic nucleotide gated channel subunit beta 1) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Autosomal recessive retinitis pigmentosa | AATGACATGTAATCTTGTTCTCACAATTTGCATATAATTTCAGGGGACTCCTGGACCCTCTGAATTCTATCATGAGACTTTTAGGGGTACATGCATCCAGGTTAAAGCTGCTGTTTTTAATGTTTCTTATAAAGAAAACAATTTAATAAAGAGACAGCATCCCTAACACCCCACTCTTATATCCTTCAAAGGTTTATTTATAAGAATAAAAGTATATTAATAACTACTTTTCTTTATTGAGCACCTATTATATGACTGGCATATGCCTTTTTTTGTTTTGTTTTTTCAGAGACAGAGTCTCACTCTGTCACTCAGGCTGG... | AATGACATGTAATCTTGTTCTCACAATTTGCATATAATTTCAGGGGACTCCTGGACCCTCTGAATTCTATCATGAGACTTTTAGGGGTACATGCATCCAGGTTAAAGCTGCTGTTTTTAATGTTTCTTATAAAGAAAACAATTTAATAAAGAGACAGCATCCCTAACACCCCACTCTTATATCCTTCAAAGGTTTATTTATAAGAATAAAAGTATATTAATAACTACTTTTCTTTATTGAGCACCTATTATATGACTGGCATATGCCTTTTTTTGTTTTGTTTTTTCAGAGACAGAGTCTCACTCTGTCACTCAGGCTGG... |
Task1_train_22762 | This alteration in CNGB1 (cyclic nucleotide gated channel subunit beta 1) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Retinitis pigmentosa 45 | AATCTTGTTCTCACAATTTGCATATAATTTCAGGGGACTCCTGGACCCTCTGAATTCTATCATGAGACTTTTAGGGGTACATGCATCCAGGTTAAAGCTGCTGTTTTTAATGTTTCTTATAAAGAAAACAATTTAATAAAGAGACAGCATCCCTAACACCCCACTCTTATATCCTTCAAAGGTTTATTTATAAGAATAAAAGTATATTAATAACTACTTTTCTTTATTGAGCACCTATTATATGACTGGCATATGCCTTTTTTTGTTTTGTTTTTTCAGAGACAGAGTCTCACTCTGTCACTCAGGCTGGAGTGCAGTGG... | AATCTTGTTCTCACAATTTGCATATAATTTCAGGGGACTCCTGGACCCTCTGAATTCTATCATGAGACTTTTAGGGGTACATGCATCCAGGTTAAAGCTGCTGTTTTTAATGTTTCTTATAAAGAAAACAATTTAATAAAGAGACAGCATCCCTAACACCCCACTCTTATATCCTTCAAAGGTTTATTTATAAGAATAAAAGTATATTAATAACTACTTTTCTTTATTGAGCACCTATTATATGACTGGCATATGCCTTTTTTTGTTTTGTTTTTTCAGAGACAGAGTCTCACTCTGTCACTCAGGCTGGAGTGCAGTGG... |
Task1_train_22763 | The gene CNGB1 (cyclic nucleotide gated channel subunit beta 1), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Retinitis pigmentosa 45 | CATGGGGGTAAAACGGATGACTCCAGGGTGGAAGGTGAGGGGAGTGAGAGGCGGAGTCTCTCCCTTCCATGGAAAGGTGAGGTCAGAATGCCCCAGTAGAGCTTAAAACTAGAGGGCAGAAGGTGTCCCACCGACAAGCCCTTGTTTGGCTTCAAAGCCCGTGTTGCCAGCCCCAAGGGCAGCTTCATTATCCTCGATAGTGGCTGCTGTGCCATACAGTAAGGGGCGGGAGTGGTACAGACACAATGAAAGGTGGCTTCTGGCCAGGCACGGTGGCTTATGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCAGGCAG... | CATGGGGGTAAAACGGATGACTCCAGGGTGGAAGGTGAGGGGAGTGAGAGGCGGAGTCTCTCCCTTCCATGGAAAGGTGAGGTCAGAATGCCCCAGTAGAGCTTAAAACTAGAGGGCAGAAGGTGTCCCACCGACAAGCCCTTGTTTGGCTTCAAAGCCCGTGTTGCCAGCCCCAAGGGCAGCTTCATTATCCTCGATAGTGGCTGCTGTGCCATACAGTAAGGGGCGGGAGTGGTACAGACACAATGAAAGGTGGCTTCTGGCCAGGCACGGTGGCTTATGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCAGGCAG... |
Task1_train_22764 | The gene CNGB1 (cyclic nucleotide gated channel subunit beta 1) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Retinitis pigmentosa 45 | ATGGGGGTAAAACGGATGACTCCAGGGTGGAAGGTGAGGGGAGTGAGAGGCGGAGTCTCTCCCTTCCATGGAAAGGTGAGGTCAGAATGCCCCAGTAGAGCTTAAAACTAGAGGGCAGAAGGTGTCCCACCGACAAGCCCTTGTTTGGCTTCAAAGCCCGTGTTGCCAGCCCCAAGGGCAGCTTCATTATCCTCGATAGTGGCTGCTGTGCCATACAGTAAGGGGCGGGAGTGGTACAGACACAATGAAAGGTGGCTTCTGGCCAGGCACGGTGGCTTATGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCAGGCAGA... | ATGGGGGTAAAACGGATGACTCCAGGGTGGAAGGTGAGGGGAGTGAGAGGCGGAGTCTCTCCCTTCCATGGAAAGGTGAGGTCAGAATGCCCCAGTAGAGCTTAAAACTAGAGGGCAGAAGGTGTCCCACCGACAAGCCCTTGTTTGGCTTCAAAGCCCGTGTTGCCAGCCCCAAGGGCAGCTTCATTATCCTCGATAGTGGCTGCTGTGCCATACAGTAAGGGGCGGGAGTGGTACAGACACAATGAAAGGTGGCTTCTGGCCAGGCACGGTGGCTTATGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCAGGCAGA... |
Task1_train_22765 | This variant impacts the gene USB1 (U6 snRNA biogenesis phosphodiesterase 1) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; Poikiloderma with neutropenia | TCAAGTTGATTGATTGTATATTATCAGGACTCTCTTAACCACAGGTGCCAGAAGCCCATGCCAGAAGCCCAACCCAAAGTGGCTTAAACCAAAGAGAAATTTATAGGCTGGTATAACTAAAAGATTCAGAGGTAGCACTGGCTCATGCATGAGTGGACCGGGGTGACAAGATATCAGATGGCACCTGACTGTCACCACCACAGGCAGACTGTTCACCATCTCAGCTCTGTCCCCTTCCTTTGTCACAATGACGAAGCCACCGCATCTCCCGGCTAATGGTGTACCAGCCTGGAAAGACAGCCTCCCTCTCTGATTGGCTT... | TCAAGTTGATTGATTGTATATTATCAGGACTCTCTTAACCACAGGTGCCAGAAGCCCATGCCAGAAGCCCAACCCAAAGTGGCTTAAACCAAAGAGAAATTTATAGGCTGGTATAACTAAAAGATTCAGAGGTAGCACTGGCTCATGCATGAGTGGACCGGGGTGACAAGATATCAGATGGCACCTGACTGTCACCACCACAGGCAGACTGTTCACCATCTCAGCTCTGTCCCCTTCCTTTGTCACAATGACGAAGCCACCGCATCTCCCGGCTAATGGTGTACCAGCCTGGAAAGACAGCCTCCCTCTCTGATTGGCTT... |
Task1_train_22766 | This genomic variant is located on Chromosome 16, within the CNOT1 (CCR4-NOT transcription complex subunit 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Vissers-Bodmer syndrome | AGGAACATTGCGTGCAAACTCTTCGTAAACAGCCAACTGCTTTGGGTCCACACCACCAACCTTGAAAGAAGAAAACCTATTTTGACAGAATTCACTCAATAATCAAAATAAACTGTTTTGAAAGTGGAAAGTCTGCATGTGGGTAAGCTCAGGGACACAAGAGTCATTACAACATATAACAGCATGATTAAGCATGCACGCACACACAAATGCAGTTCAGAAGAGGGCTTCTCATTTCCCTGAATCCTGCTAAGAGTCACCTCATTTATAAATTAACTGAGAGTTTCTCTTGGAAAATGCCTCACATGGGACGATGCCAG... | AGGAACATTGCGTGCAAACTCTTCGTAAACAGCCAACTGCTTTGGGTCCACACCACCAACCTTGAAAGAAGAAAACCTATTTTGACAGAATTCACTCAATAATCAAAATAAACTGTTTTGAAAGTGGAAAGTCTGCATGTGGGTAAGCTCAGGGACACAAGAGTCATTACAACATATAACAGCATGATTAAGCATGCACGCACACACAAATGCAGTTCAGAAGAGGGCTTCTCATTTCCCTGAATCCTGCTAAGAGTCACCTCATTTATAAATTAACTGAGAGTTTCTCTTGGAAAATGCCTCACATGGGACGATGCCAG... |
Task1_train_22767 | The gene CNOT1 (CCR4-NOT transcription complex subunit 1), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Neurodevelopmental delay | ACTGTTTTGAAAGTGGAAAGTCTGCATGTGGGTAAGCTCAGGGACACAAGAGTCATTACAACATATAACAGCATGATTAAGCATGCACGCACACACAAATGCAGTTCAGAAGAGGGCTTCTCATTTCCCTGAATCCTGCTAAGAGTCACCTCATTTATAAATTAACTGAGAGTTTCTCTTGGAAAATGCCTCACATGGGACGATGCCAGTGCAATTCTCCCTTGAAGCTGGTAAATATTATCAGATTTCTCACTGTCTCACTGGGAACAATAAGCAACCATTAATGTGAGAAGCCCAAGTTGGGAAACATGAAAACTAGC... | ACTGTTTTGAAAGTGGAAAGTCTGCATGTGGGTAAGCTCAGGGACACAAGAGTCATTACAACATATAACAGCATGATTAAGCATGCACGCACACACAAATGCAGTTCAGAAGAGGGCTTCTCATTTCCCTGAATCCTGCTAAGAGTCACCTCATTTATAAATTAACTGAGAGTTTCTCTTGGAAAATGCCTCACATGGGACGATGCCAGTGCAATTCTCCCTTGAAGCTGGTAAATATTATCAGATTTCTCACTGTCTCACTGGGAACAATAAGCAACCATTAATGTGAGAAGCCCAAGTTGGGAAACATGAAAACTAGC... |
Task1_train_22768 | The gene CNOT1 (CCR4-NOT transcription complex subunit 1) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Neurodevelopmental delay | AAATTGGGAGAGGAGGGAAGGATGTAGCAGGTCCTATTTTTCCCACCCTGAAAGGGAAATTCTGTTGTTATAACAGAGATATACACGAAGTATGTTAAACTATGTCAGTGCCAGTGCCCCACAGCACAGAAATCAACTGAGCAGCCATGCCATATTGTCAGGCCCAAGTCCTATAAACTTAGTCTATATTATAAATGTATGTTTTCAACCTAGCCTGTTCCTAGGTTTATCTGGGGATTCTCAGCTGCTGAGGACTGAGAAAGAAAGAAAAGCTCAATTTATTCTAACCACAACTCCCAATCATTCAACACTCCCATACC... | AAATTGGGAGAGGAGGGAAGGATGTAGCAGGTCCTATTTTTCCCACCCTGAAAGGGAAATTCTGTTGTTATAACAGAGATATACACGAAGTATGTTAAACTATGTCAGTGCCAGTGCCCCACAGCACAGAAATCAACTGAGCAGCCATGCCATATTGTCAGGCCCAAGTCCTATAAACTTAGTCTATATTATAAATGTATGTTTTCAACCTAGCCTGTTCCTAGGTTTATCTGGGGATTCTCAGCTGCTGAGGACTGAGAAAGAAAGAAAAGCTCAATTTATTCTAACCACAACTCCCAATCATTCAACACTCCCATACC... |
Task1_train_22769 | Here is a genetic alteration in CNOT1 (CCR4-NOT transcription complex subunit 1) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Vissers-Bodmer syndrome | ACTCAAAAATTTCAGATTTTTATACACAAGATTCCCACTCCAATTCCCTTTTAGCATCAGGCAGGGTGTCTGTACTTTATCTAAGATAAAGATTCTCTTAGTAAAACTGTTTATTCTTCAACTGCATTACAGGTTAAAAGAATGAGTAAAAAGTTTTTGAGGTAAGCCTGCTACTTAGAAAAGATAATCCAAGAATGATTATTTTTTCATGTTCTCTTGTAAGGCCACAAAATGAGCAACCTCAACAAAAGATATGTGTACCTATATCATGCCAATCATTAAGAAATCTTAATGCCATTACTATCAAGTCTACAAAAAAA... | ACTCAAAAATTTCAGATTTTTATACACAAGATTCCCACTCCAATTCCCTTTTAGCATCAGGCAGGGTGTCTGTACTTTATCTAAGATAAAGATTCTCTTAGTAAAACTGTTTATTCTTCAACTGCATTACAGGTTAAAAGAATGAGTAAAAAGTTTTTGAGGTAAGCCTGCTACTTAGAAAAGATAATCCAAGAATGATTATTTTTTCATGTTCTCTTGTAAGGCCACAAAATGAGCAACCTCAACAAAAGATATGTGTACCTATATCATGCCAATCATTAAGAAATCTTAATGCCATTACTATCAAGTCTACAAAAAAA... |
Task1_train_22770 | The gene CDH11 (cadherin 11) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Teebi hypertelorism syndrome 2 | TCTGGAATTAGACAGTGGTAATGGTTGAACATCTTCATGAAATATACTAAAAACCAATAAATTGTACAAGTTGAACAGGTAAAGTTCATGCTTCATGATATGTAAATTTTTTTCACAACAGAAAAAAAAAAGAGAGTGAGACAGAAAAGCAAATGGCAGCCAGATTTGGCCTATGGGCTATAGTTTGCCAAGGCCTAAACTAGACAGACATCCAGCTCTTTGAGACTATCCTCTAGTGAGGACCTCACATAACCTAAGTGTCCCTGTGATGTAGCCTGGGGGGTGAGGTAGGGAGGAGCAAGAGGAAGGACATCCGATAC... | TCTGGAATTAGACAGTGGTAATGGTTGAACATCTTCATGAAATATACTAAAAACCAATAAATTGTACAAGTTGAACAGGTAAAGTTCATGCTTCATGATATGTAAATTTTTTTCACAACAGAAAAAAAAAAGAGAGTGAGACAGAAAAGCAAATGGCAGCCAGATTTGGCCTATGGGCTATAGTTTGCCAAGGCCTAAACTAGACAGACATCCAGCTCTTTGAGACTATCCTCTAGTGAGGACCTCACATAACCTAAGTGTCCCTGTGATGTAGCCTGGGGGGTGAGGTAGGGAGGAGCAAGAGGAAGGACATCCGATAC... |
Task1_train_22771 | Given this context: Chromosome 16, gene CDH11 (cadherin 11) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Teebi hypertelorism syndrome 2 | ATGGAATGACTTTCACAAGGAGTCATATTTTTACTCTGTTAAATTCATCTATAATTTTTCTTTTTTTTCCCCCGGTGGACATTTGGAACTTTGTGCTAGAAGTTTGAGCAAATGTTCTTTTACAAATGCAATAACATCTTACACTATTTAAAACCTAAGCATCAGTGCTTTATAGAAGATTATTCCTTTGCCTAGAATAAACACACTGAATTGGAGGCAAATGTGCAAATTAATCATATGCAGAGAGCTCATTTGCGACGTGTGAGTTCCATGGGGGTGATTTAAATGTTTCAGGATTTCAGAGATACAGTGTGTGTTTA... | ATGGAATGACTTTCACAAGGAGTCATATTTTTACTCTGTTAAATTCATCTATAATTTTTCTTTTTTTTCCCCCGGTGGACATTTGGAACTTTGTGCTAGAAGTTTGAGCAAATGTTCTTTTACAAATGCAATAACATCTTACACTATTTAAAACCTAAGCATCAGTGCTTTATAGAAGATTATTCCTTTGCCTAGAATAAACACACTGAATTGGAGGCAAATGTGCAAATTAATCATATGCAGAGAGCTCATTTGCGACGTGTGAGTTCCATGGGGGTGATTTAAATGTTTCAGGATTTCAGAGATACAGTGTGTGTTTA... |
Task1_train_22772 | The variant affects gene CDH11 (cadherin 11), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Teebi hypertelorism syndrome 2 | TATTTAAAACCTAAGCATCAGTGCTTTATAGAAGATTATTCCTTTGCCTAGAATAAACACACTGAATTGGAGGCAAATGTGCAAATTAATCATATGCAGAGAGCTCATTTGCGACGTGTGAGTTCCATGGGGGTGATTTAAATGTTTCAGGATTTCAGAGATACAGTGTGTGTTTATGCCCTGAATACACTAAAAACAGGTGACAACCTTAGCATAACCAACTACCCAATTACATGAACAGCAAAGGATGGGAGGCAGGAATTGCTGATGTCAATGTTCATATGTCAGTGTCAAGCAGAAGAGATAGTAATATTAATTAA... | TATTTAAAACCTAAGCATCAGTGCTTTATAGAAGATTATTCCTTTGCCTAGAATAAACACACTGAATTGGAGGCAAATGTGCAAATTAATCATATGCAGAGAGCTCATTTGCGACGTGTGAGTTCCATGGGGGTGATTTAAATGTTTCAGGATTTCAGAGATACAGTGTGTGTTTATGCCCTGAATACACTAAAAACAGGTGACAACCTTAGCATAACCAACTACCCAATTACATGAACAGCAAAGGATGGGAGGCAGGAATTGCTGATGTCAATGTTCATATGTCAGTGTCAAGCAGAAGAGATAGTAATATTAATTAA... |
Task1_train_22773 | A variant found in Chromosome 16 affects CDH11 (cadherin 11). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Teebi hypertelorism syndrome 2 | TTATTTGCTTTTCACATTTAATACTCTGTGCAACACACAATATAGGGAAGCCAGGGTTGAAAATCTTTCCTCTATCATTTCCAAGCAAAGTGGTCTTGGGCAAGTTACTTCAGCTCATTATGTTTTAATTTCCCCTTACAGAGATTTCATCAGTTCTAATACTTTGTCTATATTTATCAATAGTATTTTGCTTTGCAACTTTCTTTTGGATTCATAATCTATTTAATCTCACCATGCCCTCTATATTAAAGGATGAGTGGGAAGTGGGAGTCCCTTGTAGATAATTACCAATTAATGTGAAGGTTTAAAAAAAAATGTCC... | TTATTTGCTTTTCACATTTAATACTCTGTGCAACACACAATATAGGGAAGCCAGGGTTGAAAATCTTTCCTCTATCATTTCCAAGCAAAGTGGTCTTGGGCAAGTTACTTCAGCTCATTATGTTTTAATTTCCCCTTACAGAGATTTCATCAGTTCTAATACTTTGTCTATATTTATCAATAGTATTTTGCTTTGCAACTTTCTTTTGGATTCATAATCTATTTAATCTCACCATGCCCTCTATATTAAAGGATGAGTGGGAAGTGGGAGTCCCTTGTAGATAATTACCAATTAATGTGAAGGTTTAAAAAAAAATGTCC... |
Task1_train_22774 | A variant affecting Chromosome 16, within the gene CDH11 (cadherin 11), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Elsahy-Waters syndrome | ATTTGCTTTTCACATTTAATACTCTGTGCAACACACAATATAGGGAAGCCAGGGTTGAAAATCTTTCCTCTATCATTTCCAAGCAAAGTGGTCTTGGGCAAGTTACTTCAGCTCATTATGTTTTAATTTCCCCTTACAGAGATTTCATCAGTTCTAATACTTTGTCTATATTTATCAATAGTATTTTGCTTTGCAACTTTCTTTTGGATTCATAATCTATTTAATCTCACCATGCCCTCTATATTAAAGGATGAGTGGGAAGTGGGAGTCCCTTGTAGATAATTACCAATTAATGTGAAGGTTTAAAAAAAAATGTCCTA... | ATTTGCTTTTCACATTTAATACTCTGTGCAACACACAATATAGGGAAGCCAGGGTTGAAAATCTTTCCTCTATCATTTCCAAGCAAAGTGGTCTTGGGCAAGTTACTTCAGCTCATTATGTTTTAATTTCCCCTTACAGAGATTTCATCAGTTCTAATACTTTGTCTATATTTATCAATAGTATTTTGCTTTGCAACTTTCTTTTGGATTCATAATCTATTTAATCTCACCATGCCCTCTATATTAAAGGATGAGTGGGAAGTGGGAGTCCCTTGTAGATAATTACCAATTAATGTGAAGGTTTAAAAAAAAATGTCCTA... |
Task1_train_22775 | Here’s a variant in CDH11 (cadherin 11) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Teebi hypertelorism syndrome 2 | TATGTCAATTATGTGAACATGAAGTGCTGTTCTCATGTAAAAGAACAATTAAGATAACTTCGTAGAAATCAGTAGGGTTCAGAAACCCCTCAAACCTATTCTCTTTCCCCTTTACCTTCCACTGGATAATTCCTGTTCATCTTTTAGGTTACAGGTTATTCCCATGTTGTCCTTGAAACCTTCCTTTGACATCCCTCCCAAATATTACCATGTAAATTCATAATCATTTACATTGAATGTCCTCATTATTCTATTATTCATTTTCTTTTTTTCTTTTTTTTTTTTTAATTGCTTAGGTAACTGTCTCTTTTCCACTAGAC... | TATGTCAATTATGTGAACATGAAGTGCTGTTCTCATGTAAAAGAACAATTAAGATAACTTCGTAGAAATCAGTAGGGTTCAGAAACCCCTCAAACCTATTCTCTTTCCCCTTTACCTTCCACTGGATAATTCCTGTTCATCTTTTAGGTTACAGGTTATTCCCATGTTGTCCTTGAAACCTTCCTTTGACATCCCTCCCAAATATTACCATGTAAATTCATAATCATTTACATTGAATGTCCTCATTATTCTATTATTCATTTTCTTTTTTTCTTTTTTTTTTTTTAATTGCTTAGGTAACTGTCTCTTTTCCACTAGAC... |
Task1_train_22776 | A variant was discovered on Chromosome 16, affecting TK2 (thymidine kinase 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Mitochondrial DNA depletion syndrome, myopathic form | AGAGCGACTCAGCAGCACAAAGCCATGGGAGAGGCACCGGGGGAATGTGAGGCTGCGAACAGCAAAGGGCTTGGCAAACCCATTGGTCCCGTTTGTCATTTACCCACGAGGGCCAGAGACGCATGACAAAGACACTAGCAAAGGAGATGAGACCATTAGGAAAATCAAGCTGGCCAGACACAAAGCCCTCCTGGGAGCAAGTTTTTCCAGATTGCTCCCAATAGCTAACTTGGCAGCAGCAGGCATTTTTCAGACATGAGCCATAGACCTTTTGCCTCCTATGGGCAATGCTTCCGATTCTCTGGAGTTAATATTCGATC... | AGAGCGACTCAGCAGCACAAAGCCATGGGAGAGGCACCGGGGGAATGTGAGGCTGCGAACAGCAAAGGGCTTGGCAAACCCATTGGTCCCGTTTGTCATTTACCCACGAGGGCCAGAGACGCATGACAAAGACACTAGCAAAGGAGATGAGACCATTAGGAAAATCAAGCTGGCCAGACACAAAGCCCTCCTGGGAGCAAGTTTTTCCAGATTGCTCCCAATAGCTAACTTGGCAGCAGCAGGCATTTTTCAGACATGAGCCATAGACCTTTTGCCTCCTATGGGCAATGCTTCCGATTCTCTGGAGTTAATATTCGATC... |
Task1_train_22777 | Gene TK2 (thymidine kinase 2), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Mitochondrial disease | AACAGCAAAGGGCTTGGCAAACCCATTGGTCCCGTTTGTCATTTACCCACGAGGGCCAGAGACGCATGACAAAGACACTAGCAAAGGAGATGAGACCATTAGGAAAATCAAGCTGGCCAGACACAAAGCCCTCCTGGGAGCAAGTTTTTCCAGATTGCTCCCAATAGCTAACTTGGCAGCAGCAGGCATTTTTCAGACATGAGCCATAGACCTTTTGCCTCCTATGGGCAATGCTTCCGATTCTCTGGAGTTAATATTCGATCCCGATTTTGTTCAAAGAGTTCTAACATCCTCTCCATGTGGTGGTCAGCCTCAATCAC... | AACAGCAAAGGGCTTGGCAAACCCATTGGTCCCGTTTGTCATTTACCCACGAGGGCCAGAGACGCATGACAAAGACACTAGCAAAGGAGATGAGACCATTAGGAAAATCAAGCTGGCCAGACACAAAGCCCTCCTGGGAGCAAGTTTTTCCAGATTGCTCCCAATAGCTAACTTGGCAGCAGCAGGCATTTTTCAGACATGAGCCATAGACCTTTTGCCTCCTATGGGCAATGCTTCCGATTCTCTGGAGTTAATATTCGATCCCGATTTTGTTCAAAGAGTTCTAACATCCTCTCCATGTGGTGGTCAGCCTCAATCAC... |
Task1_train_22778 | The following genetic variant occurs in TK2 (thymidine kinase 2) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Mitochondrial disease | CCCTCTCCGAGAAACACCCAAGAATGATCAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCC... | CCCTCTCCGAGAAACACCCAAGAATGATCAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCC... |
Task1_train_22779 | A variant was discovered in gene TK2 (thymidine kinase 2), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Mitochondrial DNA depletion syndrome | CAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGA... | CAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGA... |
Task1_train_22780 | This variant impacts the gene TK2 (thymidine kinase 2) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; Mitochondrial DNA depletion syndrome, myopathic form | CAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGA... | CAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGA... |
Task1_train_22781 | This variant lies on Chromosome 16 and affects the gene TK2 (thymidine kinase 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Mitochondrial disease | CAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGA... | CAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGA... |
Task1_train_22782 | An alteration has been detected in TK2 (thymidine kinase 2) on Chromosome 16. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Mitochondrial DNA depletion syndrome, myopathic form | TACAGTTCTAATCAGAGCAGTACACAAACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGG... | TACAGTTCTAATCAGAGCAGTACACAAACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGG... |
Task1_train_22783 | A variant was discovered in gene TK2 (thymidine kinase 2), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Mitochondrial disease | ATCAGAGCAGTACACAAACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGGGTGGATTTGG... | ATCAGAGCAGTACACAAACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGGGTGGATTTGG... |
Task1_train_22784 | This alteration occurs within gene TK2 (thymidine kinase 2) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Mitochondrial DNA depletion syndrome | AACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGGGTGGATTTGGGGCAGAGGCTCTCATT... | AACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGGGTGGATTTGGGGCAGAGGCTCTCATT... |
Task1_train_22785 | Given a variant located on Chromosome 16 and affecting TK2 (thymidine kinase 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Mitochondrial DNA depletion syndrome, myopathic form | AACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGGGTGGATTTGGGGCAGAGGCTCTCATT... | AACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGGGTGGATTTGGGGCAGAGGCTCTCATT... |
Task1_train_22786 | Gene TK2 (thymidine kinase 2) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Mitochondrial disease | AACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGGGTGGATTTGGGGCAGAGGCTCTCATT... | AACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGGGTGGATTTGGGGCAGAGGCTCTCATT... |
Task1_train_22787 | Gene TK2 (thymidine kinase 2) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Mitochondrial disease | CAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTG... | CAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTG... |
Task1_train_22788 | Given a variant located on Chromosome 16 and affecting TK2 (thymidine kinase 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Mitochondrial DNA depletion syndrome, myopathic form | CAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTG... | CAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTG... |
Task1_train_22789 | Consider this mutation in TK2 (thymidine kinase 2) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; Mitochondrial DNA depletion syndrome | CAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTG... | CAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTG... |
Task1_train_22790 | This sequence change occurs on Chromosome 16, altering TK2 (thymidine kinase 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | CACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACA... | CACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACA... |
Task1_train_22791 | An alteration has been detected in TK2 (thymidine kinase 2) on Chromosome 16. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Mitochondrial disease | CACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACA... | CACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACA... |
Task1_train_22792 | A genetic alteration is present in TK2 (thymidine kinase 2) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Mitochondrial DNA depletion syndrome | CACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACA... | CACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACA... |
Task1_train_22793 | Gene TK2 (thymidine kinase 2) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Mitochondrial DNA depletion syndrome, myopathic form | CACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACA... | CACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACA... |
Task1_train_22794 | This gene mutation involves TK2 (thymidine kinase 2) on Chromosome 16. Is it associated with any clinical condition, or is it benign? | Pathogenic; Mitochondrial disease | AGCATAAACCATACTGTTTGCAGAAACAATTTAAGCAGAGAGCCACTGTTATCAGTTAGGAATGGTGGGGGCCCTCCCAAGATCTAAGTTCCCAGATGCCAGCCAAAGACCACCCTTGCAAGCAGGCATTTCTAAAGGGCAGCAGTCTTAGGTCTGCTATGTTAACTCTTTCCTGCACAGCAGCACATGAACACAGCAGGACAAGGGCTATATAATGTTTATTATTATTTTTATCAAACTATATATATTTCTTTTCTTTCTTTCTTTTTTCTTTTTTTTTTTTTTTTTGAGACAGGGCCTCACTCTGTCACCCAGGTTGG... | AGCATAAACCATACTGTTTGCAGAAACAATTTAAGCAGAGAGCCACTGTTATCAGTTAGGAATGGTGGGGGCCCTCCCAAGATCTAAGTTCCCAGATGCCAGCCAAAGACCACCCTTGCAAGCAGGCATTTCTAAAGGGCAGCAGTCTTAGGTCTGCTATGTTAACTCTTTCCTGCACAGCAGCACATGAACACAGCAGGACAAGGGCTATATAATGTTTATTATTATTTTTATCAAACTATATATATTTCTTTTCTTTCTTTCTTTTTTCTTTTTTTTTTTTTTTTTGAGACAGGGCCTCACTCTGTCACCCAGGTTGG... |
Task1_train_22795 | This alteration in TERB1 (telomere repeat binding bouquet formation protein 1) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Azoospermia | TTTAAGGGCCTACTTTGGAAGAGCAACATTGGAACTGGACAGAAAGGGATCAAGAGGGGTAAACAGAAGTAGAACTACAGGTCTTAATGACTGACTTAATACAATGAGTGAAGGAGAATTAGGAGCTGAAATGACTAGTTTGAGGTCTGAATGACTAGGAGAAAAGCAATACTTTTAAGACCTTCACATAACTGGAAGAAAAAAAAAAACAGAAGTATATTTCCGCTTTACTATTTTAATAACCACACTCAATAAATCCAATACTTACCACAATCCTCTGTGCAATGACCAAGAGTAAGCATGATGCTAAATTTTTCTCC... | TTTAAGGGCCTACTTTGGAAGAGCAACATTGGAACTGGACAGAAAGGGATCAAGAGGGGTAAACAGAAGTAGAACTACAGGTCTTAATGACTGACTTAATACAATGAGTGAAGGAGAATTAGGAGCTGAAATGACTAGTTTGAGGTCTGAATGACTAGGAGAAAAGCAATACTTTTAAGACCTTCACATAACTGGAAGAAAAAAAAAAACAGAAGTATATTTCCGCTTTACTATTTTAATAACCACACTCAATAAATCCAATACTTACCACAATCCTCTGTGCAATGACCAAGAGTAAGCATGATGCTAAATTTTTCTCC... |
Task1_train_22796 | Given this variant in gene NAE1 (NEDD8 activating enzyme E1 subunit 1) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia | TGCCGGGTTCAAATGATTCTCATGCCTCAGCCTCCCAAGAAACTGAGACTACAGGAGTGCGCCACCACACACAGCTAATTTTTTCTATTTTTAGTTTCAGTGTTGGCTAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCAATAATAGGTCACATTTATTGAGCATTAATAGATGCTGGACACTGTTCTAAGGACCTTATATCTATATTAATTGATTGAATCCTCAAAACAGTCCTATGAAGTATGTATAGTTATCTCCAT... | TGCCGGGTTCAAATGATTCTCATGCCTCAGCCTCCCAAGAAACTGAGACTACAGGAGTGCGCCACCACACACAGCTAATTTTTTCTATTTTTAGTTTCAGTGTTGGCTAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCAATAATAGGTCACATTTATTGAGCATTAATAGATGCTGGACACTGTTCTAAGGACCTTATATCTATATTAATTGATTGAATCCTCAAAACAGTCCTATGAAGTATGTATAGTTATCTCCAT... |
Task1_train_22797 | The gene NAE1 (NEDD8 activating enzyme E1 subunit 1) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia | CAGGCTGACTACCTCCCATGTAAGGTCATACTTCTTTCTATCCTCAATTGACCTTCCCCAAGTTTTAAGTAGTTGAACTCTTAGGCTAGGACAACAAACCAAGATTCGTTCAATGGTGACATGATAAAGAGTGAAATCTGTCTGGGGAAGAGAGATCATCTCTGTGTGACATTACTTGGACCCCAAAGAAACCGAGCCAGCAGACCTGGATTCTTTGCACCATGCCCTAACTATACGAGGGTCATATTCATTGAGACCCATCCCTGTGATAGTCTATCTGGGTTCAGGCTAGTGATACCTGGATAGCAAGATGTCTAGCT... | CAGGCTGACTACCTCCCATGTAAGGTCATACTTCTTTCTATCCTCAATTGACCTTCCCCAAGTTTTAAGTAGTTGAACTCTTAGGCTAGGACAACAAACCAAGATTCGTTCAATGGTGACATGATAAAGAGTGAAATCTGTCTGGGGAAGAGAGATCATCTCTGTGTGACATTACTTGGACCCCAAAGAAACCGAGCCAGCAGACCTGGATTCTTTGCACCATGCCCTAACTATACGAGGGTCATATTCATTGAGACCCATCCCTGTGATAGTCTATCTGGGTTCAGGCTAGTGATACCTGGATAGCAAGATGTCTAGCT... |
Task1_train_22798 | A variant has been detected on Chromosome 16 in NAE1 (NEDD8 activating enzyme E1 subunit 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia | ATTTAGCTTTAATACAGGATGCAATGTATAAACACAGACAGTACACCTCTAAGTTCTTAAACTACCAAACATATGAAGATTTACAAGATTACAAAAATTAGTTAACTTTTTTCTCAGAGAAATAATACACGTTTTTAAAGTCAAAGCTTTTCAAGCAATCAAAACACAGGGGCATCATTAGATGCTCACATCCAACTATATTCTCTAATTGTTTACCTTGCCGATACTGCTTCTTTGAAGGAAGAAACTAAAGTGAACAGAATAAAGGAAAAAAAAGTAAAGCTTACTGACTATAAAGGAAAAGTTGTTTGTAATAGCAT... | ATTTAGCTTTAATACAGGATGCAATGTATAAACACAGACAGTACACCTCTAAGTTCTTAAACTACCAAACATATGAAGATTTACAAGATTACAAAAATTAGTTAACTTTTTTCTCAGAGAAATAATACACGTTTTTAAAGTCAAAGCTTTTCAAGCAATCAAAACACAGGGGCATCATTAGATGCTCACATCCAACTATATTCTCTAATTGTTTACCTTGCCGATACTGCTTCTTTGAAGGAAGAAACTAAAGTGAACAGAATAAAGGAAAAAAAAGTAAAGCTTACTGACTATAAAGGAAAAGTTGTTTGTAATAGCAT... |
Task1_train_22799 | The following genetic variant occurs in HSF4 (heat shock transcription factor 4) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Cataract 5 multiple types | AGGCCTTTTCTGCACGGCTCTAACCCAAGTTGCGAATGTGAGCTGGAAGGCATGCTGCCACCTTATCTGTCCGCCTGCCTCGACCACATTCACAACCTACGGCTGGAATTTGAGCCATCGAGGAAGCCGAGCCGCCGGGCGGCCATCGAGCTGCTGATGGTTCTGGCGGGCCGTGCCCCGGGGCTGCGAGGCCTGCGCCTGGAGTGCCGCGGAGAAAAACCGCTCTTCGACGCGGGCCGCGACGTCCTGGAGGCTGTGCACGCTGTATGCGGGGCGGCCAGCCAGCTACGCCACCTCGACCTGCGGCGCTTGTCCTTCAC... | AGGCCTTTTCTGCACGGCTCTAACCCAAGTTGCGAATGTGAGCTGGAAGGCATGCTGCCACCTTATCTGTCCGCCTGCCTCGACCACATTCACAACCTACGGCTGGAATTTGAGCCATCGAGGAAGCCGAGCCGCCGGGCGGCCATCGAGCTGCTGATGGTTCTGGCGGGCCGTGCCCCGGGGCTGCGAGGCCTGCGCCTGGAGTGCCGCGGAGAAAAACCGCTCTTCGACGCGGGCCGCGACGTCCTGGAGGCTGTGCACGCTGTATGCGGGGCGGCCAGCCAGCTACGCCACCTCGACCTGCGGCGCTTGTCCTTCAC... |
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