ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
|---|---|---|---|---|
Task1_train_27900 | Here’s a variant in SLC12A5 (solute carrier family 12 member 5) located on Chromosome 20. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Developmental and epileptic encephalopathy, 34 | TTACGATTCAGGGAAAACTACTGACAACATTTTGATGTACTTATGAAAACACATACAGACGTATACTAATATACGTATATATCTTCACATACACATTTATAAAAATGAGATAATGAGACATATTCTTTTTCAAAAACCTGATTGTGTTCACCTAATGTACCATGGATAGCTTTTAAAGTCAGTCCATATAAATCTATGTCATCTGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGTTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACTGATACGGTGAAACCCCGTCTC... | TTACGATTCAGGGAAAACTACTGACAACATTTTGATGTACTTATGAAAACACATACAGACGTATACTAATATACGTATATATCTTCACATACACATTTATAAAAATGAGATAATGAGACATATTCTTTTTCAAAAACCTGATTGTGTTCACCTAATGTACCATGGATAGCTTTTAAAGTCAGTCCATATAAATCTATGTCATCTGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGTTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACTGATACGGTGAAACCCCGTCTC... |
Task1_train_27901 | This mutation occurs in SLC12A5 (solute carrier family 12 member 5) on Chromosome 20. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 34 | TAAAAGGTCTCCCGGTGGCTGTATTGTGCAGCGAGGGCAAGGTTATGTGGCTCCCCACCTTCCTCCCTTGTTTCTCTCCCTAGGATCTGCCTCCTGGGTAACCGCACGCTGTCTCGCCATGGCTTTGATGTCTGTGCCAAGCTGGCTTGGGAAGGAAATGAGACGGTGACCACACGGCTATGGGGCCTTTTCTGCTCCTCTCGCTTCCTCAACGCCACCTGTGATGAATACTTCACCCGAAACAATGTCACAGAGATCCAGGGCATCCCTGGTGCTGCCAGTGGCCTCATCAAAGGTCTGCGGAGGGACAAGGGCTGGCA... | TAAAAGGTCTCCCGGTGGCTGTATTGTGCAGCGAGGGCAAGGTTATGTGGCTCCCCACCTTCCTCCCTTGTTTCTCTCCCTAGGATCTGCCTCCTGGGTAACCGCACGCTGTCTCGCCATGGCTTTGATGTCTGTGCCAAGCTGGCTTGGGAAGGAAATGAGACGGTGACCACACGGCTATGGGGCCTTTTCTGCTCCTCTCGCTTCCTCAACGCCACCTGTGATGAATACTTCACCCGAAACAATGTCACAGAGATCCAGGGCATCCCTGGTGCTGCCAGTGGCCTCATCAAAGGTCTGCGGAGGGACAAGGGCTGGCA... |
Task1_train_27902 | This alteration occurs within gene CD40 (CD40 molecule) located on Chromosome 20. Is it associated with a disease or is it a benign variant? | Pathogenic; Hyper-IgM syndrome type 3 | TGCAGGGCAGGCATTATTACTCCCATTTTAGAGATAGAGAAACTGAGGCTAAGAGAAGCAAAATAACTAGTAAGTGTTACAAAGTCAGGACTGGAGTCTAAAGCTGTCTGACTCTCAAACTTGTGTTCTTTTCACTGGCTGTTCCCAAACTGTGGGACAGTTTTAAGGAGCACATGGACATAGAATTAAACATACACTTACTTTACAGTTCTTTTAAAAATCCTTCTCATTTTTTCAAAGAGGAAGTCTCTGGAGCTAGAATAGAGTTAATGCCTCTCAAAGGCTTGCTAATCCTTCTTTTAAAACAAAAATCAAGAGCA... | TGCAGGGCAGGCATTATTACTCCCATTTTAGAGATAGAGAAACTGAGGCTAAGAGAAGCAAAATAACTAGTAAGTGTTACAAAGTCAGGACTGGAGTCTAAAGCTGTCTGACTCTCAAACTTGTGTTCTTTTCACTGGCTGTTCCCAAACTGTGGGACAGTTTTAAGGAGCACATGGACATAGAATTAAACATACACTTACTTTACAGTTCTTTTAAAAATCCTTCTCATTTTTTCAAAGAGGAAGTCTCTGGAGCTAGAATAGAGTTAATGCCTCTCAAAGGCTTGCTAATCCTTCTTTTAAAACAAAAATCAAGAGCA... |
Task1_train_27903 | Chromosome 20 houses a mutation in gene SLC13A3 (solute carrier family 13 member 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate | GGGTGACATTTTAGACAGGAGGTCAGGGAAGCCTCTCAGGGAAGGTGACACCTGAGCAGGGACTTGAATAAAGTGAGTCGGGGAACCAGACATATACTTGGGAGAGAGTGTTCTAGGCAGAGGGAACAGCACATGCGAAGGCCCTGAGGCAGAGTATGTAGCTGGAGAGGGGAGGGAAGAGCAGTAGAAAATCAGAGAGGTCAACTCTGTGGAATCCCCAGCCCAGGAATTTGGGGCTTTGAAGCTCTCTTATGTTCAGAAAGGCAAATCATCTCCAGGTCCAAAGTTGATTAACATTCTTTATTTCACAGTATTTTTGA... | GGGTGACATTTTAGACAGGAGGTCAGGGAAGCCTCTCAGGGAAGGTGACACCTGAGCAGGGACTTGAATAAAGTGAGTCGGGGAACCAGACATATACTTGGGAGAGAGTGTTCTAGGCAGAGGGAACAGCACATGCGAAGGCCCTGAGGCAGAGTATGTAGCTGGAGAGGGGAGGGAAGAGCAGTAGAAAATCAGAGAGGTCAACTCTGTGGAATCCCCAGCCCAGGAATTTGGGGCTTTGAAGCTCTCTTATGTTCAGAAAGGCAAATCATCTCCAGGTCCAAAGTTGATTAACATTCTTTATTTCACAGTATTTTTGA... |
Task1_train_27904 | This alteration occurs within gene SLC13A3 (solute carrier family 13 member 3) located on Chromosome 20. Is it associated with a disease or is it a benign variant? | Pathogenic; Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate | CTTGTGTTGCATAAGATTTGCATGAAATTTACTTGAAATCCCACATTTGATATTTTTACTGTATATATGTTAATATTATATATTTTATGTATTATATGTTAATATAATATATATTACATACTTAAACATACATAAGATATATTTTAGAAAATATAAATATGAAATAGACATATAAAAAATATAATTTCCCCAATTTCATTTCAGGTTGGAACAAAGTCCTACTCACATCAGGGCAGGCAGGCAGCCTGTAAACGCTTTGACAACAACTGCTCCCCTCCAATTCTCTCCATCCCCAACCTAGGCTCTGCTCTCCATCCCCA... | CTTGTGTTGCATAAGATTTGCATGAAATTTACTTGAAATCCCACATTTGATATTTTTACTGTATATATGTTAATATTATATATTTTATGTATTATATGTTAATATAATATATATTACATACTTAAACATACATAAGATATATTTTAGAAAATATAAATATGAAATAGACATATAAAAAATATAATTTCCCCAATTTCATTTCAGGTTGGAACAAAGTCCTACTCACATCAGGGCAGGCAGGCAGCCTGTAAACGCTTTGACAACAACTGCTCCCCTCCAATTCTCTCCATCCCCAACCTAGGCTCTGCTCTCCATCCCCA... |
Task1_train_27905 | This alteration occurs within gene TP53RK (TP53 regulating kinase) located on Chromosome 20. Is it associated with a disease or is it a benign variant? | Pathogenic; Galloway-Mowat syndrome 4 | CCTTATAGTACACGTGAGGAAACTGAGGAATGAGGCATCTCATTCATGTTGGGAATATTAATTGAAAAACCTGTCAGCTCCTGTGGCCCTTGGAGTTCCTTGAAAATAATGTTATACGCCAATACTTATTATAGTACTGTAAAGATGCACCATATCCCATATCTCATTTGTCAGTGGAAAGAACACAGATTTGGAGCCAGGTAAAAGTACCTCTTGCTACCTGTGACGTCTTGGACAAGTTCCCACCTTTTGGGGCCAGTTTCTCCATCTATAAAATGGGGATAATGCCTAACTTAAGAGTTATTTTAGATCCAATATAA... | CCTTATAGTACACGTGAGGAAACTGAGGAATGAGGCATCTCATTCATGTTGGGAATATTAATTGAAAAACCTGTCAGCTCCTGTGGCCCTTGGAGTTCCTTGAAAATAATGTTATACGCCAATACTTATTATAGTACTGTAAAGATGCACCATATCCCATATCTCATTTGTCAGTGGAAAGAACACAGATTTGGAGCCAGGTAAAAGTACCTCTTGCTACCTGTGACGTCTTGGACAAGTTCCCACCTTTTGGGGCCAGTTTCTCCATCTATAAAATGGGGATAATGCCTAACTTAAGAGTTATTTTAGATCCAATATAA... |
Task1_train_27906 | Here is a variant affecting TP53RK (TP53 regulating kinase) on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Galloway-Mowat syndrome 4 | CATAGTGGACTGAATATAATCTCGAACAGTCACTGAGCCTTCAATTTCTTCCATATATAAGCAGTTGGAAGCATAGTCCACAAAAAAGACAACTGGGGCAGATATTCCTGAAATCAAGACATAAGTGGTTATTGGGTTGGATTTTTTTTAACGGGTAAACTTAATTTTCAAAGATTAAGCCAGTTTTTCCATCTATATCTACTTATTTCAGGACTATTGAGGAATGCTACAGGAAATGGTACAACTGAACTCATCTGGAATATTCCCCTGCTCATGCCCACTGCAGGACTATGCCTGGGAACACCCCACAGCTAAACTGA... | CATAGTGGACTGAATATAATCTCGAACAGTCACTGAGCCTTCAATTTCTTCCATATATAAGCAGTTGGAAGCATAGTCCACAAAAAAGACAACTGGGGCAGATATTCCTGAAATCAAGACATAAGTGGTTATTGGGTTGGATTTTTTTTAACGGGTAAACTTAATTTTCAAAGATTAAGCCAGTTTTTCCATCTATATCTACTTATTTCAGGACTATTGAGGAATGCTACAGGAAATGGTACAACTGAACTCATCTGGAATATTCCCCTGCTCATGCCCACTGCAGGACTATGCCTGGGAACACCCCACAGCTAAACTGA... |
Task1_train_27907 | Located on Chromosome 20, this mutation impacts TP53RK (TP53 regulating kinase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Galloway-Mowat syndrome 4 | GACATAAGTGGTTATTGGGTTGGATTTTTTTTAACGGGTAAACTTAATTTTCAAAGATTAAGCCAGTTTTTCCATCTATATCTACTTATTTCAGGACTATTGAGGAATGCTACAGGAAATGGTACAACTGAACTCATCTGGAATATTCCCCTGCTCATGCCCACTGCAGGACTATGCCTGGGAACACCCCACAGCTAAACTGAGGAGGCCATAGCTTCCTCCTCCCTTCCAAACCACCCTTTCTCACTGGACTTCATTTGTCACACTCACTCTCTAAAAAACAAACAAAACAAAGGCCGGGTGTGGTGGCTCATGCCTGT... | GACATAAGTGGTTATTGGGTTGGATTTTTTTTAACGGGTAAACTTAATTTTCAAAGATTAAGCCAGTTTTTCCATCTATATCTACTTATTTCAGGACTATTGAGGAATGCTACAGGAAATGGTACAACTGAACTCATCTGGAATATTCCCCTGCTCATGCCCACTGCAGGACTATGCCTGGGAACACCCCACAGCTAAACTGAGGAGGCCATAGCTTCCTCCTCCCTTCCAAACCACCCTTTCTCACTGGACTTCATTTGTCACACTCACTCTCTAAAAAACAAACAAAACAAAGGCCGGGTGTGGTGGCTCATGCCTGT... |
Task1_train_27908 | This variant lies on Chromosome 20 and affects the gene SLC2A10 (solute carrier family 2 member 10). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Arterial tortuosity syndrome | ATTCAATAGCTTCGCTCCATGTGGGCCTCTCCATTGGGAAGCTCAAAACATGGCAGCTCAATTGCTTCATCAGAGCAAACAAGTGAGAGATCTCGAAACTGAACAACACAGAAATCATTTATAACCTAATCCGAAAATGACATCCACCATATTTGCCGTCTTCTATTCATTAGACGTTGCTAAGTGATACTTCTAGTGACATCTAGAAGAGAAGAGGATGCCACTAGGCCACGAATACCAGGAGGGTCTCAGTGTAATCAGACTTTTTATATGAAGGCTCAGGGATCCAGGCACCAGTATTCCAGTGACCCAGCCTCAGA... | ATTCAATAGCTTCGCTCCATGTGGGCCTCTCCATTGGGAAGCTCAAAACATGGCAGCTCAATTGCTTCATCAGAGCAAACAAGTGAGAGATCTCGAAACTGAACAACACAGAAATCATTTATAACCTAATCCGAAAATGACATCCACCATATTTGCCGTCTTCTATTCATTAGACGTTGCTAAGTGATACTTCTAGTGACATCTAGAAGAGAAGAGGATGCCACTAGGCCACGAATACCAGGAGGGTCTCAGTGTAATCAGACTTTTTATATGAAGGCTCAGGGATCCAGGCACCAGTATTCCAGTGACCCAGCCTCAGA... |
Task1_train_27909 | This alteration in SLC2A10 (solute carrier family 2 member 10) on Chromosome 20 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Arterial tortuosity syndrome | TCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAACTATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCACCAGGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGTAATCCCAAAGTGCTGGGATTACGGGCATGAGCCACCGTGTCTGGCCTGGAAGTTTTTCTCAAATCAAGTTTGGGTGACATCATCTCTTCCTCCCTAGCATTGAAACCC... | TCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAACTATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCACCAGGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGTAATCCCAAAGTGCTGGGATTACGGGCATGAGCCACCGTGTCTGGCCTGGAAGTTTTTCTCAAATCAAGTTTGGGTGACATCATCTCTTCCTCCCTAGCATTGAAACCC... |
Task1_train_27910 | The gene SLC2A10 (solute carrier family 2 member 10) on Chromosome 20 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Familial aortopathy | TCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAACTATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCACCAGGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGTAATCCCAAAGTGCTGGGATTACGGGCATGAGCCACCGTGTCTGGCCTGGAAGTTTTTCTCAAATCAAGTTTGGGTGACATCATCTCTTCCTCCCTAGCATTGAAACCC... | TCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAACTATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCACCAGGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGTAATCCCAAAGTGCTGGGATTACGGGCATGAGCCACCGTGTCTGGCCTGGAAGTTTTTCTCAAATCAAGTTTGGGTGACATCATCTCTTCCTCCCTAGCATTGAAACCC... |
Task1_train_27911 | Consider this mutation in NCOA3 (nuclear receptor coactivator 3) on Chromosome 20. Is this a benign change or a disease-causing variant? | Pathogenic; Bilateral sensorineural hearing impairment | TAAAACTTTATTTTCAGGGATCTGGAGACTTGGATAATCTAGATGCTATTCTTGGTGATCTGACTAGTTCTGACTTTTACAATAATTCCATATCCTCAAATGGTAGTCATCTGGGGACTAAGCAACAGGTGTTTCAAGGAACTAATTCTCTGGGTAAGAATGAACTAGGTTTTTTTTTTTTTTGCTGCCTTTGAAACTTTTCTGCATACCTGTAAACACTCTTACACTAAGACCAGGATATAAATAGCATTTATAACTTCAGAACATATATTCTGCCTCTGTTTTCTATACTAATTTATATGTGCTTTAGAAAGCTTTTT... | TAAAACTTTATTTTCAGGGATCTGGAGACTTGGATAATCTAGATGCTATTCTTGGTGATCTGACTAGTTCTGACTTTTACAATAATTCCATATCCTCAAATGGTAGTCATCTGGGGACTAAGCAACAGGTGTTTCAAGGAACTAATTCTCTGGGTAAGAATGAACTAGGTTTTTTTTTTTTTTGCTGCCTTTGAAACTTTTCTGCATACCTGTAAACACTCTTACACTAAGACCAGGATATAAATAGCATTTATAACTTCAGAACATATATTCTGCCTCTGTTTTCTATACTAATTTATATGTGCTTTAGAAAGCTTTTT... |
Task1_train_27912 | A mutation on Chromosome 20 affecting KCNB1 (potassium voltage-gated channel subfamily B member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Developmental and epileptic encephalopathy, 26 | TGGCTGGGTGCCCACCTTCTGAACCCTTCCCAGATTGCCAGGGGGCAATTAGAATTGAGTACAAGTGGTGCAACTCACCCTGATGGTATCTCAAAATAAAATCTCAGGTACTATGAAATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGC... | TGGCTGGGTGCCCACCTTCTGAACCCTTCCCAGATTGCCAGGGGGCAATTAGAATTGAGTACAAGTGGTGCAACTCACCCTGATGGTATCTCAAAATAAAATCTCAGGTACTATGAAATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGC... |
Task1_train_27913 | This alteration in KCNB1 (potassium voltage-gated channel subfamily B member 1) on Chromosome 20 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 26 | GGCTGGGTGCCCACCTTCTGAACCCTTCCCAGATTGCCAGGGGGCAATTAGAATTGAGTACAAGTGGTGCAACTCACCCTGATGGTATCTCAAAATAAAATCTCAGGTACTATGAAATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCT... | GGCTGGGTGCCCACCTTCTGAACCCTTCCCAGATTGCCAGGGGGCAATTAGAATTGAGTACAAGTGGTGCAACTCACCCTGATGGTATCTCAAAATAAAATCTCAGGTACTATGAAATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCT... |
Task1_train_27914 | Consider a variant on Chromosome 20 in gene KCNB1 (potassium voltage-gated channel subfamily B member 1). Determine its clinical classification and disease relevance. | Pathogenic; Epileptic encephalopathy | GGCTGGGTGCCCACCTTCTGAACCCTTCCCAGATTGCCAGGGGGCAATTAGAATTGAGTACAAGTGGTGCAACTCACCCTGATGGTATCTCAAAATAAAATCTCAGGTACTATGAAATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCT... | GGCTGGGTGCCCACCTTCTGAACCCTTCCCAGATTGCCAGGGGGCAATTAGAATTGAGTACAAGTGGTGCAACTCACCCTGATGGTATCTCAAAATAAAATCTCAGGTACTATGAAATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCT... |
Task1_train_27915 | This variant affects gene KCNB1 (potassium voltage-gated channel subfamily B member 1) located on Chromosome 20. Evaluate its biological effect and specify any disease association. | Pathogenic; Developmental and epileptic encephalopathy, 26 | CTGGGTGCCCACCTTCTGAACCCTTCCCAGATTGCCAGGGGGCAATTAGAATTGAGTACAAGTGGTGCAACTCACCCTGATGGTATCTCAAAATAAAATCTCAGGTACTATGAAATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTG... | CTGGGTGCCCACCTTCTGAACCCTTCCCAGATTGCCAGGGGGCAATTAGAATTGAGTACAAGTGGTGCAACTCACCCTGATGGTATCTCAAAATAAAATCTCAGGTACTATGAAATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTG... |
Task1_train_27916 | The gene KCNB1 (potassium voltage-gated channel subfamily B member 1) on Chromosome 20 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | TCTGAACCCTTCCCAGATTGCCAGGGGGCAATTAGAATTGAGTACAAGTGGTGCAACTCACCCTGATGGTATCTCAAAATAAAATCTCAGGTACTATGAAATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTC... | TCTGAACCCTTCCCAGATTGCCAGGGGGCAATTAGAATTGAGTACAAGTGGTGCAACTCACCCTGATGGTATCTCAAAATAAAATCTCAGGTACTATGAAATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTC... |
Task1_train_27917 | This variant affects the gene KCNB1 (potassium voltage-gated channel subfamily B member 1) found on Chromosome 20. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 26 | GAACCCTTCCCAGATTGCCAGGGGGCAATTAGAATTGAGTACAAGTGGTGCAACTCACCCTGATGGTATCTCAAAATAAAATCTCAGGTACTATGAAATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCT... | GAACCCTTCCCAGATTGCCAGGGGGCAATTAGAATTGAGTACAAGTGGTGCAACTCACCCTGATGGTATCTCAAAATAAAATCTCAGGTACTATGAAATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCT... |
Task1_train_27918 | This is a variant in KCNB1 (potassium voltage-gated channel subfamily B member 1), located on Chromosome 20. Is this mutation a likely cause of disease or not? | Pathogenic; Developmental and epileptic encephalopathy, 26 | TCCCAGATTGCCAGGGGGCAATTAGAATTGAGTACAAGTGGTGCAACTCACCCTGATGGTATCTCAAAATAAAATCTCAGGTACTATGAAATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAA... | TCCCAGATTGCCAGGGGGCAATTAGAATTGAGTACAAGTGGTGCAACTCACCCTGATGGTATCTCAAAATAAAATCTCAGGTACTATGAAATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAA... |
Task1_train_27919 | A genetic alteration is present in KCNB1 (potassium voltage-gated channel subfamily B member 1) on Chromosome 20. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Epileptic encephalopathy | TTAGAATTGAGTACAAGTGGTGCAACTCACCCTGATGGTATCTCAAAATAAAATCTCAGGTACTATGAAATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTT... | TTAGAATTGAGTACAAGTGGTGCAACTCACCCTGATGGTATCTCAAAATAAAATCTCAGGTACTATGAAATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTT... |
Task1_train_27920 | This variant lies on Chromosome 20 and affects the gene KCNB1 (potassium voltage-gated channel subfamily B member 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Developmental and epileptic encephalopathy, 26 | TTAGAATTGAGTACAAGTGGTGCAACTCACCCTGATGGTATCTCAAAATAAAATCTCAGGTACTATGAAATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTT... | TTAGAATTGAGTACAAGTGGTGCAACTCACCCTGATGGTATCTCAAAATAAAATCTCAGGTACTATGAAATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTT... |
Task1_train_27921 | This variant affects the gene KCNB1 (potassium voltage-gated channel subfamily B member 1) found on Chromosome 20. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 26 | TGATGGTATCTCAAAATAAAATCTCAGGTACTATGAAATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGA... | TGATGGTATCTCAAAATAAAATCTCAGGTACTATGAAATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGA... |
Task1_train_27922 | A variant found in Chromosome 20 affects KCNB1 (potassium voltage-gated channel subfamily B member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | AGGTACTATGAAATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTC... | AGGTACTATGAAATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTC... |
Task1_train_27923 | Here’s a variant in KCNB1 (potassium voltage-gated channel subfamily B member 1) located on Chromosome 20. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Developmental and epileptic encephalopathy, 26 | TGAAATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAA... | TGAAATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAA... |
Task1_train_27924 | Assess the clinical impact of this variant on gene KCNB1 (potassium voltage-gated channel subfamily B member 1), found on Chromosome 20. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 26 | GAAATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAA... | GAAATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAA... |
Task1_train_27925 | Consider a variant on Chromosome 20 in gene KCNB1 (potassium voltage-gated channel subfamily B member 1). Determine its clinical classification and disease relevance. | Pathogenic; not provided | AATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGT... | AATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGT... |
Task1_train_27926 | This mutation occurs in KCNB1 (potassium voltage-gated channel subfamily B member 1) on Chromosome 20. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Epileptic encephalopathy | ATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTG... | ATACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTG... |
Task1_train_27927 | This mutation is located in gene KCNB1 (potassium voltage-gated channel subfamily B member 1) on Chromosome 20. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Epileptic encephalopathy | ACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGT... | ACCGAAGTCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGT... |
Task1_train_27928 | Gene KCNB1 (potassium voltage-gated channel subfamily B member 1) on Chromosome 20 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Developmental and epileptic encephalopathy, 26 | TCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTG... | TCAATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTG... |
Task1_train_27929 | A mutation in KCNB1 (potassium voltage-gated channel subfamily B member 1), located on Chromosome 20, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Developmental and epileptic encephalopathy, 26 | AATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGT... | AATGAAGACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGT... |
Task1_train_27930 | A genomic change on Chromosome 20 affects KCNB1 (potassium voltage-gated channel subfamily B member 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Intellectual disability | GACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGT... | GACATTTGAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGT... |
Task1_train_27931 | The variant affects gene KCNB1 (potassium voltage-gated channel subfamily B member 1), which is on Chromosome 20. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | GAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGTGAGTTCC... | GAGTAAGGGTTTTGCGCTGGGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGTGAGTTCC... |
Task1_train_27932 | Gene KCNB1 (potassium voltage-gated channel subfamily B member 1) on Chromosome 20 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Developmental and epileptic encephalopathy, 26 | CCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGTGAGTTCCACTCATGTCATCTCCCAAAGAGGGCTATAGAGTTGTTACAAGGAGGTGCTGTGCCCTATGGCT... | CCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGTGAGTTCCACTCATGTCATCTCCCAAAGAGGGCTATAGAGTTGTTACAAGGAGGTGCTGTGCCCTATGGCT... |
Task1_train_27933 | A variant affecting Chromosome 20, within the gene KCNB1 (potassium voltage-gated channel subfamily B member 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Epileptic encephalopathy | CCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGTGAGTTCCACTCATGTCATCTCCCAAAGAGGGCTATAGAGTTGTTACAAGGAGGTGCTGTGCCCTATGGCT... | CCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGTGAGTTCCACTCATGTCATCTCCCAAAGAGGGCTATAGAGTTGTTACAAGGAGGTGCTGTGCCCTATGGCT... |
Task1_train_27934 | The gene KCNB1 (potassium voltage-gated channel subfamily B member 1), on Chromosome 20, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Developmental and epileptic encephalopathy, 26 | GTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGTGAGTTCCACTCATGTCATCTCCCAAAGAGGGCTATAGAGTTGTTACAAGGAGGTGCTGTGCCCTATGGCTTGGC... | GTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGTGAGTTCCACTCATGTCATCTCCCAAAGAGGGCTATAGAGTTGTTACAAGGAGGTGCTGTGCCCTATGGCTTGGC... |
Task1_train_27935 | Mutation context: Chromosome 20, Gene KCNB1 (potassium voltage-gated channel subfamily B member 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Epileptic encephalopathy | GTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGTGAGTTCCACTCATGTCATCTCCCAAAGAGGGCTATAGAGTTGTTACAAGGAGGTGCTGTGCCCTATGGCTTGGC... | GTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGTGAGTTCCACTCATGTCATCTCCCAAAGAGGGCTATAGAGTTGTTACAAGGAGGTGCTGTGCCCTATGGCTTGGC... |
Task1_train_27936 | A variant has been detected on Chromosome 20 in KCNB1 (potassium voltage-gated channel subfamily B member 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Developmental and epileptic encephalopathy, 26 | ATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGTGAGTTCCACTCATGTCATCTCCCAAAGAGGGCTATAGAGTTGTTACAAGGAGGTGCTGTGCCCTATGGCTTGGCCAACTTCATGCTGATGGACCTGTCATGGCTCTCAAGGTCTTAGGGAGCCTTCTCTGGAGTCTCTCTTCTCTCTGAGGGCT... | ATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGTGAGTTCCACTCATGTCATCTCCCAAAGAGGGCTATAGAGTTGTTACAAGGAGGTGCTGTGCCCTATGGCTTGGCCAACTTCATGCTGATGGACCTGTCATGGCTCTCAAGGTCTTAGGGAGCCTTCTCTGGAGTCTCTCTTCTCTCTGAGGGCT... |
Task1_train_27937 | A mutation in KCNB1 (potassium voltage-gated channel subfamily B member 1), located on Chromosome 20, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Developmental and epileptic encephalopathy, 26 | TGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGTGAGTTCCACTCATGTCATCTCCCAAAGAGGGCTATAGAGTTGTTACAAGGAGGTGCTGTGCCCTATGGCTTGGCCAACTTCATGCTGATGGACCTGTCATGGCTCTCAAGGTCTTAGGGAGCCTTCTCTGGAGTCTCTCTTCTCTCTGAGGGCTTT... | TGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGTGAGTTCCACTCATGTCATCTCCCAAAGAGGGCTATAGAGTTGTTACAAGGAGGTGCTGTGCCCTATGGCTTGGCCAACTTCATGCTGATGGACCTGTCATGGCTCTCAAGGTCTTAGGGAGCCTTCTCTGGAGTCTCTCTTCTCTCTGAGGGCTTT... |
Task1_train_27938 | A variant was discovered in gene KCNB1 (potassium voltage-gated channel subfamily B member 1), Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Developmental and epileptic encephalopathy, 26 | TCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGTGAGTTCCACTCATGTCATCTCCCAAAGAGGGCTATAGAGTTGTTACAAGGAGGTGCTGTGCCCTATGGCTTGGCCAACTTCATGCTGATGGACCTGTCATGGCTCTCAAGGTCTTAGGGAGCCTTCTCTGGAGTCTCTCTTCTCTCTGAGGGCTTTACA... | TCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGTGAGTTCCACTCATGTCATCTCCCAAAGAGGGCTATAGAGTTGTTACAAGGAGGTGCTGTGCCCTATGGCTTGGCCAACTTCATGCTGATGGACCTGTCATGGCTCTCAAGGTCTTAGGGAGCCTTCTCTGGAGTCTCTCTTCTCTCTGAGGGCTTTACA... |
Task1_train_27939 | A variant was discovered on Chromosome 20, affecting KCNB1 (potassium voltage-gated channel subfamily B member 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Epileptic encephalopathy | CTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGTGAGTTCCACTCATGTCATCTCCCAAAGAGGGCTATAGAGTTGTTACAAGGAGGTGCTGTGCCCTATGGCTTGGCCAACTTCATGCTGATGGACCTGTCATGGCTCTCAAGGTCTTAGGGAGCCTTCTCTGGAGTCTCTCTTCTCTCTGAGGGCTTTACAGGGCCTTTCTGTTCCAGAGTTCATGCAGAAAAGCTCTGTG... | CTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGTGAGTTCCACTCATGTCATCTCCCAAAGAGGGCTATAGAGTTGTTACAAGGAGGTGCTGTGCCCTATGGCTTGGCCAACTTCATGCTGATGGACCTGTCATGGCTCTCAAGGTCTTAGGGAGCCTTCTCTGGAGTCTCTCTTCTCTCTGAGGGCTTTACAGGGCCTTTCTGTTCCAGAGTTCATGCAGAAAAGCTCTGTG... |
Task1_train_27940 | Chromosome 20 houses a mutation in gene KCNB1 (potassium voltage-gated channel subfamily B member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Developmental and epileptic encephalopathy, 26 | CTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGTGAGTTCCACTCATGTCATCTCCCAAAGAGGGCTATAGAGTTGTTACAAGGAGGTGCTGTGCCCTATGGCTTGGCCAACTTCATGCTGATGGACCTGTCATGGCTCTCAAGGTCTTAGGGAGCCTTCTCTGGAGTCTCTCTTCTCTCTGAGGGCTTTACAGGGCCTTTCTGTTCCAGAGTTCATGCAGAAAAGCTCTGTG... | CTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGTGAGTTCCACTCATGTCATCTCCCAAAGAGGGCTATAGAGTTGTTACAAGGAGGTGCTGTGCCCTATGGCTTGGCCAACTTCATGCTGATGGACCTGTCATGGCTCTCAAGGTCTTAGGGAGCCTTCTCTGGAGTCTCTCTTCTCTCTGAGGGCTTTACAGGGCCTTTCTGTTCCAGAGTTCATGCAGAAAAGCTCTGTG... |
Task1_train_27941 | The gene KCNB1 (potassium voltage-gated channel subfamily B member 1), on Chromosome 20, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Intellectual disability | CTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGTGAGTTCCACTCATGTCATCTCCCAAAGAGGGCTATAGAGTTGTTACAAGGAGGTGCTGTGCCCTATGGCTTGGCCAACTTCATGCTGATGGACCTGTCATGGCTCTCAAGGTCTTAGGGAGCCTTCTCTGGAGTCTCTCTTCTCTCTGAGGGCTTTACAGGGCCTTTCTGTTCCAGAGTTCATGCAGAAAAGCTCTGTG... | CTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGTGAGTTCCACTCATGTCATCTCCCAAAGAGGGCTATAGAGTTGTTACAAGGAGGTGCTGTGCCCTATGGCTTGGCCAACTTCATGCTGATGGACCTGTCATGGCTCTCAAGGTCTTAGGGAGCCTTCTCTGGAGTCTCTCTTCTCTCTGAGGGCTTTACAGGGCCTTTCTGTTCCAGAGTTCATGCAGAAAAGCTCTGTG... |
Task1_train_27942 | Consider a variant on Chromosome 20 in gene KCNB1 (potassium voltage-gated channel subfamily B member 1). Determine its clinical classification and disease relevance. | Pathogenic; Epileptic encephalopathy | TCTGTTCCAGAGTTCATGCAGAAAAGCTCTGTGGCAGGTAAGCTGAACAGCTCTCCTCTTTGGACCTCACCCAAAAGTCTCTCCTCCAAGGCAGGGCAGTTCAGATGCTCTGATCTCGTGTGCTTCCATGGGCTCCTCCCCCTGGCAACACACGGACGTCAGGGGAGATGTGGTTCTCAAGTTTGCACTTTTCCTGACCACTGGGGCCTTTTCCAGTCAATGCTTCTGTGGAGTAAATACAGTTCTGCCTTAAGAACTTAGGGGAGGTGGGTAAAGGGGAGCTTTCAAAGTGGTTTTTCTCCGATCTTGTCCCCGTGCTG... | TCTGTTCCAGAGTTCATGCAGAAAAGCTCTGTGGCAGGTAAGCTGAACAGCTCTCCTCTTTGGACCTCACCCAAAAGTCTCTCCTCCAAGGCAGGGCAGTTCAGATGCTCTGATCTCGTGTGCTTCCATGGGCTCCTCCCCCTGGCAACACACGGACGTCAGGGGAGATGTGGTTCTCAAGTTTGCACTTTTCCTGACCACTGGGGCCTTTTCCAGTCAATGCTTCTGTGGAGTAAATACAGTTCTGCCTTAAGAACTTAGGGGAGGTGGGTAAAGGGGAGCTTTCAAAGTGGTTTTTCTCCGATCTTGTCCCCGTGCTG... |
Task1_train_27943 | Gene KCNB1 (potassium voltage-gated channel subfamily B member 1), found on Chromosome 20, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Developmental and epileptic encephalopathy, 26 | TCTGTTCCAGAGTTCATGCAGAAAAGCTCTGTGGCAGGTAAGCTGAACAGCTCTCCTCTTTGGACCTCACCCAAAAGTCTCTCCTCCAAGGCAGGGCAGTTCAGATGCTCTGATCTCGTGTGCTTCCATGGGCTCCTCCCCCTGGCAACACACGGACGTCAGGGGAGATGTGGTTCTCAAGTTTGCACTTTTCCTGACCACTGGGGCCTTTTCCAGTCAATGCTTCTGTGGAGTAAATACAGTTCTGCCTTAAGAACTTAGGGGAGGTGGGTAAAGGGGAGCTTTCAAAGTGGTTTTTCTCCGATCTTGTCCCCGTGCTG... | TCTGTTCCAGAGTTCATGCAGAAAAGCTCTGTGGCAGGTAAGCTGAACAGCTCTCCTCTTTGGACCTCACCCAAAAGTCTCTCCTCCAAGGCAGGGCAGTTCAGATGCTCTGATCTCGTGTGCTTCCATGGGCTCCTCCCCCTGGCAACACACGGACGTCAGGGGAGATGTGGTTCTCAAGTTTGCACTTTTCCTGACCACTGGGGCCTTTTCCAGTCAATGCTTCTGTGGAGTAAATACAGTTCTGCCTTAAGAACTTAGGGGAGGTGGGTAAAGGGGAGCTTTCAAAGTGGTTTTTCTCCGATCTTGTCCCCGTGCTG... |
Task1_train_27944 | This variant impacts the gene ADNP (activity dependent neuroprotector homeobox) on Chromosome 20. Is the change likely to result in a pathogenic outcome? | Pathogenic; ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | GTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACA... | GTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACA... |
Task1_train_27945 | A genetic alteration is present in ADNP (activity dependent neuroprotector homeobox) on Chromosome 20. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | AAGGCCTAGAGCTGAAAAGGGAGTATACCAAGCATGCTGCCATCTGAGGAAGTCTCCTGTGCCACTTACCTGGTTTTTCGTAAGTGATGGGTCCCACAGTCCTACATCCTCCCATGTAGTGTTTTTCAAATAAAAGTCATTAGGTTCAAATTGTTTAAAATCCTAGAAAACAGTGAAATAAGTTTACAAAAACATAGTGGTATAAACGCTAACCCAATCTTACATGTAAATCTCACCTCTTAACTAAGATGGGGAGAGGCACAGGAAAACCAACGTCAACAAGGACTTAAACTAGGAGTGATAAGGCTCTTAAATATAAA... | AAGGCCTAGAGCTGAAAAGGGAGTATACCAAGCATGCTGCCATCTGAGGAAGTCTCCTGTGCCACTTACCTGGTTTTTCGTAAGTGATGGGTCCCACAGTCCTACATCCTCCCATGTAGTGTTTTTCAAATAAAAGTCATTAGGTTCAAATTGTTTAAAATCCTAGAAAACAGTGAAATAAGTTTACAAAAACATAGTGGTATAAACGCTAACCCAATCTTACATGTAAATCTCACCTCTTAACTAAGATGGGGAGAGGCACAGGAAAACCAACGTCAACAAGGACTTAAACTAGGAGTGATAAGGCTCTTAAATATAAA... |
Task1_train_27946 | Here is a genetic alteration in DPM1 (dolichyl-phosphate mannosyltransferase subunit 1, catalytic) on Chromosome 20. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Congenital disorder of glycosylation type 1E | GCCAAAGGCCTAGGTGACAATTACTCAGCCAGCTCCATGCCTCAAAGTCCCACAGGGACTTGGCAGGCTAGGGTAACTTGTTAGGAGCAGGACTTGGGGATTCCTGCATTCTCTAGTCCAGACCCCTCACAAGTGTCTTATGAGCAAGGCTGAACTCTTCTAACTTATTTTGTTAAGAAGTGAATATCGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGTGGATCACTGGAGGTCAGGGAGTTTGAGACTAGCCTAACCAACATGGCAAAACCTCATCTCTACTAAAAATACAAA... | GCCAAAGGCCTAGGTGACAATTACTCAGCCAGCTCCATGCCTCAAAGTCCCACAGGGACTTGGCAGGCTAGGGTAACTTGTTAGGAGCAGGACTTGGGGATTCCTGCATTCTCTAGTCCAGACCCCTCACAAGTGTCTTATGAGCAAGGCTGAACTCTTCTAACTTATTTTGTTAAGAAGTGAATATCGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGTGGATCACTGGAGGTCAGGGAGTTTGAGACTAGCCTAACCAACATGGCAAAACCTCATCTCTACTAAAAATACAAA... |
Task1_train_27947 | A variant was discovered in gene SALL4 (spalt like transcription factor 4), Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Duane-radial ray syndrome | TGAGACGAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACAGTAGCCGGGTATGGTGGCACACGCCTGAAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGTCAAGATGGCACCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTGTCTCAGAAACAAACAAACAAACAAAACAAACCAAAACAAAACAAATTTTGGGGCAGGACGCAGTGGCTCACACCTACAATCCAGGACTTTGGGAGGTCAGAGCAGGTGGATCACCTGAGGTC... | TGAGACGAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACAGTAGCCGGGTATGGTGGCACACGCCTGAAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGTCAAGATGGCACCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTGTCTCAGAAACAAACAAACAAACAAAACAAACCAAAACAAAACAAATTTTGGGGCAGGACGCAGTGGCTCACACCTACAATCCAGGACTTTGGGAGGTCAGAGCAGGTGGATCACCTGAGGTC... |
Task1_train_27948 | Given a variant located on Chromosome 20 and affecting CYP24A1 (cytochrome P450 family 24 subfamily A member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Muscle spasm | TTTATATTACATGTGGTTGCATAACACAAACCTAGACCCTAGGGCTAAATACAGTCCACCGCTTGTTTTTTATAAAATTTATCAGAACACAGCCTTTGTAGGCAGAATAACAGATCTCCTAAAATGTGAATGCCCTAATCCCTGGAACACGTGAATATACTACCTTATATGAAAAAAAGGGCTTTCCAGATGAAATTAAATTTATGAACTTGGAGATGGGAGACATGATCCTGGATAATATCTTGTCAGACAGAAGCAATGTAAGAAGAAAGAGAGATTCAAAGTGTGAGAGGGACTCAACCAACCATTGTTACTGGCTT... | TTTATATTACATGTGGTTGCATAACACAAACCTAGACCCTAGGGCTAAATACAGTCCACCGCTTGTTTTTTATAAAATTTATCAGAACACAGCCTTTGTAGGCAGAATAACAGATCTCCTAAAATGTGAATGCCCTAATCCCTGGAACACGTGAATATACTACCTTATATGAAAAAAAGGGCTTTCCAGATGAAATTAAATTTATGAACTTGGAGATGGGAGACATGATCCTGGATAATATCTTGTCAGACAGAAGCAATGTAAGAAGAAAGAGAGATTCAAAGTGTGAGAGGGACTCAACCAACCATTGTTACTGGCTT... |
Task1_train_27949 | This alteration occurs within gene CYP24A1 (cytochrome P450 family 24 subfamily A member 1) located on Chromosome 20. Is it associated with a disease or is it a benign variant? | Pathogenic; Inborn genetic diseases | TTTATATTACATGTGGTTGCATAACACAAACCTAGACCCTAGGGCTAAATACAGTCCACCGCTTGTTTTTTATAAAATTTATCAGAACACAGCCTTTGTAGGCAGAATAACAGATCTCCTAAAATGTGAATGCCCTAATCCCTGGAACACGTGAATATACTACCTTATATGAAAAAAAGGGCTTTCCAGATGAAATTAAATTTATGAACTTGGAGATGGGAGACATGATCCTGGATAATATCTTGTCAGACAGAAGCAATGTAAGAAGAAAGAGAGATTCAAAGTGTGAGAGGGACTCAACCAACCATTGTTACTGGCTT... | TTTATATTACATGTGGTTGCATAACACAAACCTAGACCCTAGGGCTAAATACAGTCCACCGCTTGTTTTTTATAAAATTTATCAGAACACAGCCTTTGTAGGCAGAATAACAGATCTCCTAAAATGTGAATGCCCTAATCCCTGGAACACGTGAATATACTACCTTATATGAAAAAAAGGGCTTTCCAGATGAAATTAAATTTATGAACTTGGAGATGGGAGACATGATCCTGGATAATATCTTGTCAGACAGAAGCAATGTAAGAAGAAAGAGAGATTCAAAGTGTGAGAGGGACTCAACCAACCATTGTTACTGGCTT... |
Task1_train_27950 | A genetic alteration is present in CYP24A1 (cytochrome P450 family 24 subfamily A member 1) on Chromosome 20. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hypercalcemia, infantile, 1 | TTTATATTACATGTGGTTGCATAACACAAACCTAGACCCTAGGGCTAAATACAGTCCACCGCTTGTTTTTTATAAAATTTATCAGAACACAGCCTTTGTAGGCAGAATAACAGATCTCCTAAAATGTGAATGCCCTAATCCCTGGAACACGTGAATATACTACCTTATATGAAAAAAAGGGCTTTCCAGATGAAATTAAATTTATGAACTTGGAGATGGGAGACATGATCCTGGATAATATCTTGTCAGACAGAAGCAATGTAAGAAGAAAGAGAGATTCAAAGTGTGAGAGGGACTCAACCAACCATTGTTACTGGCTT... | TTTATATTACATGTGGTTGCATAACACAAACCTAGACCCTAGGGCTAAATACAGTCCACCGCTTGTTTTTTATAAAATTTATCAGAACACAGCCTTTGTAGGCAGAATAACAGATCTCCTAAAATGTGAATGCCCTAATCCCTGGAACACGTGAATATACTACCTTATATGAAAAAAAGGGCTTTCCAGATGAAATTAAATTTATGAACTTGGAGATGGGAGACATGATCCTGGATAATATCTTGTCAGACAGAAGCAATGTAAGAAGAAAGAGAGATTCAAAGTGTGAGAGGGACTCAACCAACCATTGTTACTGGCTT... |
Task1_train_27951 | Gene CYP24A1 (cytochrome P450 family 24 subfamily A member 1), found on Chromosome 20, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hypercalcemia, infantile, 1 | TAATTGATGCCAGGCTCAGGAATAACTACTTGGTATTCATATTAAATTTTTGTGATACACTCTCTTTGGGTCATCATTTTACAAATGAAAAAAAAAAAGGAAGTAGAGAGTTTAGGGAACTGCTCAAGGTCACCCAGCAAGTTAGAGGTGAGCTGGGATTCAAACCCCAGTCTGGCTGACTTCCCAGCATAGCTCATCCCTCGTCATTCTCACTACCTTGCAGAGGATAATGAACCGCCTAGATGCTCACCTGAGGCGTATTATCGCTGGCAAAACGCGATGGGGAGTTCCCGGCTGGGCACCAGGGTGCCTGAGTGTAG... | TAATTGATGCCAGGCTCAGGAATAACTACTTGGTATTCATATTAAATTTTTGTGATACACTCTCTTTGGGTCATCATTTTACAAATGAAAAAAAAAAAGGAAGTAGAGAGTTTAGGGAACTGCTCAAGGTCACCCAGCAAGTTAGAGGTGAGCTGGGATTCAAACCCCAGTCTGGCTGACTTCCCAGCATAGCTCATCCCTCGTCATTCTCACTACCTTGCAGAGGATAATGAACCGCCTAGATGCTCACCTGAGGCGTATTATCGCTGGCAAAACGCGATGGGGAGTTCCCGGCTGGGCACCAGGGTGCCTGAGTGTAG... |
Task1_train_27952 | This sequence variant lies in CYP24A1 (cytochrome P450 family 24 subfamily A member 1) on Chromosome 20. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hypercalcemia, infantile, 1 | CTTTCAGAATAGCCAGGACCAAAAAAGAAACAGATTTAACCATATCAGTGAGTCCCTCACCGCAAGTACCAAATAGAGTTTCCAAAGGGCAGATGACTGTAGCTTTTACCAAAGCCACGTAAGGCAGTCTGAGCCTGTAGGGAAAACTGCAGGGGCTAAGCTGCAGCAGCTGATTTGAGGGGAAGTGGCCTGGAAAACCTCAGGGGCACAAACTATCCTTGATTGACCTCCATGGAACAGACCAAGCTCATTGACTGGCCTGCTGTACCCACTCTCTTGGCTAAGTCTATTCTCCATCCACCAGCCAGAGCCCACTTTTA... | CTTTCAGAATAGCCAGGACCAAAAAAGAAACAGATTTAACCATATCAGTGAGTCCCTCACCGCAAGTACCAAATAGAGTTTCCAAAGGGCAGATGACTGTAGCTTTTACCAAAGCCACGTAAGGCAGTCTGAGCCTGTAGGGAAAACTGCAGGGGCTAAGCTGCAGCAGCTGATTTGAGGGGAAGTGGCCTGGAAAACCTCAGGGGCACAAACTATCCTTGATTGACCTCCATGGAACAGACCAAGCTCATTGACTGGCCTGCTGTACCCACTCTCTTGGCTAAGTCTATTCTCCATCCACCAGCCAGAGCCCACTTTTA... |
Task1_train_27953 | A sequence alteration has been identified in CYP24A1 (cytochrome P450 family 24 subfamily A member 1) on Chromosome 20. Is it disease-inducing or harmless? | Pathogenic; Hypercalcemia, infantile, 1 | AAACGACCATTTGTTCAGTTCGCTGTACAAGTCTTCAACGTGGCCTCTTTCATCACAGAGCTCATCTATTCTGCCCATAAAATCGGCCAAGACCTTCAAAGAAAACAACCGCAAAAGACACATTTTAAAGCCGTTGAAGGAAAACAAAACTTTAAAGCTCACTGAGCTAACTTCAGGTCTTGCTACATCGCATATTCACTGGCCATAATGTTATTCATCCTGAAGTCACACTAATTATATATTCTCCCTGGGAACCCACCTTATCCCCTAATGACCTCGTCCTGGGTTATTTCCTGAGCTTTTCCTGAAGCCACCCTGAA... | AAACGACCATTTGTTCAGTTCGCTGTACAAGTCTTCAACGTGGCCTCTTTCATCACAGAGCTCATCTATTCTGCCCATAAAATCGGCCAAGACCTTCAAAGAAAACAACCGCAAAAGACACATTTTAAAGCCGTTGAAGGAAAACAAAACTTTAAAGCTCACTGAGCTAACTTCAGGTCTTGCTACATCGCATATTCACTGGCCATAATGTTATTCATCCTGAAGTCACACTAATTATATATTCTCCCTGGGAACCCACCTTATCCCCTAATGACCTCGTCCTGGGTTATTTCCTGAGCTTTTCCTGAAGCCACCCTGAA... |
Task1_train_27954 | This variant lies on Chromosome 20 and affects the gene CYP24A1 (cytochrome P450 family 24 subfamily A member 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hypercalcemia, infantile, 1 | GAACAGAAGTAAAAAGAGATTACTTTATGCTTAAAACTCCCTTTGACTCCGTGCTGGCTAAGGGATAATGTCCAAATACCTTAGTATAATACAAAAATATTGTTAAGACCTATCCAGTATCATTTCAGAGAAAGCCTCACATCAGCTACACTAAATGACCGATTCTCTGAACACACCACGTCATTTCATGCCTCCCTGTTTTCAGAAGGCTACTCTGTCTGCCTTAATGCCTTCCCCCACTTTCTCTGCTTTCAGACTCCTCCTGCAAAACCCAGCTCAAATATCACTACTTAAGAACTTTACAATGTTATCTCATTTAA... | GAACAGAAGTAAAAAGAGATTACTTTATGCTTAAAACTCCCTTTGACTCCGTGCTGGCTAAGGGATAATGTCCAAATACCTTAGTATAATACAAAAATATTGTTAAGACCTATCCAGTATCATTTCAGAGAAAGCCTCACATCAGCTACACTAAATGACCGATTCTCTGAACACACCACGTCATTTCATGCCTCCCTGTTTTCAGAAGGCTACTCTGTCTGCCTTAATGCCTTCCCCCACTTTCTCTGCTTTCAGACTCCTCCTGCAAAACCCAGCTCAAATATCACTACTTAAGAACTTTACAATGTTATCTCATTTAA... |
Task1_train_27955 | A mutation found in CYP24A1 (cytochrome P450 family 24 subfamily A member 1) on Chromosome 20 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | TGACTCCGTGCTGGCTAAGGGATAATGTCCAAATACCTTAGTATAATACAAAAATATTGTTAAGACCTATCCAGTATCATTTCAGAGAAAGCCTCACATCAGCTACACTAAATGACCGATTCTCTGAACACACCACGTCATTTCATGCCTCCCTGTTTTCAGAAGGCTACTCTGTCTGCCTTAATGCCTTCCCCCACTTTCTCTGCTTTCAGACTCCTCCTGCAAAACCCAGCTCAAATATCACTACTTAAGAACTTTACAATGTTATCTCATTTAATTCTCACAGCAAACCCGTGGGGTGGGAACTGTTACTCCCATTT... | TGACTCCGTGCTGGCTAAGGGATAATGTCCAAATACCTTAGTATAATACAAAAATATTGTTAAGACCTATCCAGTATCATTTCAGAGAAAGCCTCACATCAGCTACACTAAATGACCGATTCTCTGAACACACCACGTCATTTCATGCCTCCCTGTTTTCAGAAGGCTACTCTGTCTGCCTTAATGCCTTCCCCCACTTTCTCTGCTTTCAGACTCCTCCTGCAAAACCCAGCTCAAATATCACTACTTAAGAACTTTACAATGTTATCTCATTTAATTCTCACAGCAAACCCGTGGGGTGGGAACTGTTACTCCCATTT... |
Task1_train_27956 | A genetic alteration is present in BMP7 (bone morphogenetic protein 7) on Chromosome 20. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Congenital heart defects, multiple types, 4 | GCCTGGACACAGAGGCTGTGGTTTCATCCTAAGCAAGAAGCTCCCTGGCTGCTGGGAGTAGATGTCGATGTCACCTCCCAGGAGAGCTGCTCAGCAGTGTCTACCAAAGCCACCCATGTGTGGGCCCTCTGACCCCACAATTCTATCTCTAGAACTTTATCTGACTGATAGACATGAACACGTATGTCAGCGAGGGTACTTGCCCTGCGGCACCATCCATCATAGAACAGAGGAGCCAGCGTGCACACGTGAAACACAGCACAACCCAAGCCGTGGAACAGTGAGGTGACTCAGAGGATGAGGGCACCCCGTGTGAACCC... | GCCTGGACACAGAGGCTGTGGTTTCATCCTAAGCAAGAAGCTCCCTGGCTGCTGGGAGTAGATGTCGATGTCACCTCCCAGGAGAGCTGCTCAGCAGTGTCTACCAAAGCCACCCATGTGTGGGCCCTCTGACCCCACAATTCTATCTCTAGAACTTTATCTGACTGATAGACATGAACACGTATGTCAGCGAGGGTACTTGCCCTGCGGCACCATCCATCATAGAACAGAGGAGCCAGCGTGCACACGTGAAACACAGCACAACCCAAGCCGTGGAACAGTGAGGTGACTCAGAGGATGAGGGCACCCCGTGTGAACCC... |
Task1_train_27957 | Here is a variant affecting BMP7 (bone morphogenetic protein 7) on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Ventricular septal defect 1 | CAAATACAGAAGTGCAGACGACGAAAAATCAGACCCCACCTCCCACTCCGTAAGCCCCAGCTATGCCCCCGCCTCTCTACCCCTCCAGTAAAATCTCTCTCCAGTTCCTGGTGTCTTCCTCCAGGAGGACACGATGATATACAAGCACACATGCAGCCCACTCATCTGCACCTTGCTTCTTTCCACCTCATACATCTTGGAGATGGTTCTAAATCAGGTCATATGTTGCTGCTTCCTTCTTAACTGGCTGCTTAGTATAATTTAAACTTTTTTGAAGGTATTTTGGCATCTAAACCTCCCACCCCTTGCTCGCTGAAGCT... | CAAATACAGAAGTGCAGACGACGAAAAATCAGACCCCACCTCCCACTCCGTAAGCCCCAGCTATGCCCCCGCCTCTCTACCCCTCCAGTAAAATCTCTCTCCAGTTCCTGGTGTCTTCCTCCAGGAGGACACGATGATATACAAGCACACATGCAGCCCACTCATCTGCACCTTGCTTCTTTCCACCTCATACATCTTGGAGATGGTTCTAAATCAGGTCATATGTTGCTGCTTCCTTCTTAACTGGCTGCTTAGTATAATTTAAACTTTTTTGAAGGTATTTTGGCATCTAAACCTCCCACCCCTTGCTCGCTGAAGCT... |
Task1_train_27958 | A variant was discovered in gene PCK1 (phosphoenolpyruvate carboxykinase 1), Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Phosphoenolpyruvate carboxykinase deficiency, cytosolic | TGTTGTGTTTTGCAACAGCAGTAAAATGGGTCAAGGTTTAGTCAGTTGGAAGTTGTGTCAAAACTCACTATGGTTGGTTGAGGGCTCGAAGTCTCCCAGCATTCATTAACAACTATCTGTTCAATGATTATCTCCCTGGGGCGTGTTGCAGTGAGTTGGCCCAAAGCATAACTGACCCTGGCCGTGATCCAGAGACCTGCCCCCTGACGTCAGTGGCGAGCCTCCCTGGGTGCAGCTGAGGGGCAGGGCTATTCTTTTCCACAGTATTTAAAGCTGGGAGGTTCTGCCACCAAGCACGGCCTTCCCACTGGGAACACAAA... | TGTTGTGTTTTGCAACAGCAGTAAAATGGGTCAAGGTTTAGTCAGTTGGAAGTTGTGTCAAAACTCACTATGGTTGGTTGAGGGCTCGAAGTCTCCCAGCATTCATTAACAACTATCTGTTCAATGATTATCTCCCTGGGGCGTGTTGCAGTGAGTTGGCCCAAAGCATAACTGACCCTGGCCGTGATCCAGAGACCTGCCCCCTGACGTCAGTGGCGAGCCTCCCTGGGTGCAGCTGAGGGGCAGGGCTATTCTTTTCCACAGTATTTAAAGCTGGGAGGTTCTGCCACCAAGCACGGCCTTCCCACTGGGAACACAAA... |
Task1_train_27959 | The following genetic variant occurs in VAPB (VAMP associated protein B and C) on Chromosome 20. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Amyotrophic lateral sclerosis type 8 | AGATTGCTGTGTAATAGCAATTAACTGTGATGTAATAGATTAACCTGGGGAAATTTTCAAAAACAGTTAAGTGTTTACATTTAAATTTGGCTTATTTTTGTAGAGTACCTTGAAGAAGAGGTCAGTGTAAGGAATAAACAAATACTTAAATTTGGGATCCTCACACCACAACTTCATAAGGGGGAGAGGGTGAACTGAGGTATCCCGTAGGTGGTTGAGGTGTGTGTGCTTGTGAGTTTTCTGTATTTCTTTGCAGTTGGGTTCAGCGAGGAGCAGTTTTCTGTGTTCACCAGTGTTGATAGCAGACAAAATCACACAGA... | AGATTGCTGTGTAATAGCAATTAACTGTGATGTAATAGATTAACCTGGGGAAATTTTCAAAAACAGTTAAGTGTTTACATTTAAATTTGGCTTATTTTTGTAGAGTACCTTGAAGAAGAGGTCAGTGTAAGGAATAAACAAATACTTAAATTTGGGATCCTCACACCACAACTTCATAAGGGGGAGAGGGTGAACTGAGGTATCCCGTAGGTGGTTGAGGTGTGTGTGCTTGTGAGTTTTCTGTATTTCTTTGCAGTTGGGTTCAGCGAGGAGCAGTTTTCTGTGTTCACCAGTGTTGATAGCAGACAAAATCACACAGA... |
Task1_train_27960 | Here’s a variant in VAPB (VAMP associated protein B and C) located on Chromosome 20. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Adult-onset proximal spinal muscular atrophy, autosomal dominant | ATGTAATAGATTAACCTGGGGAAATTTTCAAAAACAGTTAAGTGTTTACATTTAAATTTGGCTTATTTTTGTAGAGTACCTTGAAGAAGAGGTCAGTGTAAGGAATAAACAAATACTTAAATTTGGGATCCTCACACCACAACTTCATAAGGGGGAGAGGGTGAACTGAGGTATCCCGTAGGTGGTTGAGGTGTGTGTGCTTGTGAGTTTTCTGTATTTCTTTGCAGTTGGGTTCAGCGAGGAGCAGTTTTCTGTGTTCACCAGTGTTGATAGCAGACAAAATCACACAGAAACAAATACGAAAATTGTTTTATGTCCAG... | ATGTAATAGATTAACCTGGGGAAATTTTCAAAAACAGTTAAGTGTTTACATTTAAATTTGGCTTATTTTTGTAGAGTACCTTGAAGAAGAGGTCAGTGTAAGGAATAAACAAATACTTAAATTTGGGATCCTCACACCACAACTTCATAAGGGGGAGAGGGTGAACTGAGGTATCCCGTAGGTGGTTGAGGTGTGTGTGCTTGTGAGTTTTCTGTATTTCTTTGCAGTTGGGTTCAGCGAGGAGCAGTTTTCTGTGTTCACCAGTGTTGATAGCAGACAAAATCACACAGAAACAAATACGAAAATTGTTTTATGTCCAG... |
Task1_train_27961 | This gene mutation involves VAPB (VAMP associated protein B and C) on Chromosome 20. Is it associated with any clinical condition, or is it benign? | Pathogenic; Amyotrophic lateral sclerosis type 8 | ATGTAATAGATTAACCTGGGGAAATTTTCAAAAACAGTTAAGTGTTTACATTTAAATTTGGCTTATTTTTGTAGAGTACCTTGAAGAAGAGGTCAGTGTAAGGAATAAACAAATACTTAAATTTGGGATCCTCACACCACAACTTCATAAGGGGGAGAGGGTGAACTGAGGTATCCCGTAGGTGGTTGAGGTGTGTGTGCTTGTGAGTTTTCTGTATTTCTTTGCAGTTGGGTTCAGCGAGGAGCAGTTTTCTGTGTTCACCAGTGTTGATAGCAGACAAAATCACACAGAAACAAATACGAAAATTGTTTTATGTCCAG... | ATGTAATAGATTAACCTGGGGAAATTTTCAAAAACAGTTAAGTGTTTACATTTAAATTTGGCTTATTTTTGTAGAGTACCTTGAAGAAGAGGTCAGTGTAAGGAATAAACAAATACTTAAATTTGGGATCCTCACACCACAACTTCATAAGGGGGAGAGGGTGAACTGAGGTATCCCGTAGGTGGTTGAGGTGTGTGTGCTTGTGAGTTTTCTGTATTTCTTTGCAGTTGGGTTCAGCGAGGAGCAGTTTTCTGTGTTCACCAGTGTTGATAGCAGACAAAATCACACAGAAACAAATACGAAAATTGTTTTATGTCCAG... |
Task1_train_27962 | This variant impacts the gene VAPB (VAMP associated protein B and C) on Chromosome 20. Is the change likely to result in a pathogenic outcome? | Pathogenic; Amyotrophic lateral sclerosis type 8 | ATGTAATAGATTAACCTGGGGAAATTTTCAAAAACAGTTAAGTGTTTACATTTAAATTTGGCTTATTTTTGTAGAGTACCTTGAAGAAGAGGTCAGTGTAAGGAATAAACAAATACTTAAATTTGGGATCCTCACACCACAACTTCATAAGGGGGAGAGGGTGAACTGAGGTATCCCGTAGGTGGTTGAGGTGTGTGTGCTTGTGAGTTTTCTGTATTTCTTTGCAGTTGGGTTCAGCGAGGAGCAGTTTTCTGTGTTCACCAGTGTTGATAGCAGACAAAATCACACAGAAACAAATACGAAAATTGTTTTATGTCCAG... | ATGTAATAGATTAACCTGGGGAAATTTTCAAAAACAGTTAAGTGTTTACATTTAAATTTGGCTTATTTTTGTAGAGTACCTTGAAGAAGAGGTCAGTGTAAGGAATAAACAAATACTTAAATTTGGGATCCTCACACCACAACTTCATAAGGGGGAGAGGGTGAACTGAGGTATCCCGTAGGTGGTTGAGGTGTGTGTGCTTGTGAGTTTTCTGTATTTCTTTGCAGTTGGGTTCAGCGAGGAGCAGTTTTCTGTGTTCACCAGTGTTGATAGCAGACAAAATCACACAGAAACAAATACGAAAATTGTTTTATGTCCAG... |
Task1_train_27963 | A variant found in Chromosome 20 affects GNAS (GNAS complex locus). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | CTTTTTGGCGCTAACTCTTAGGCAGCCAGCCCAGCAGCCCGAAGCCCGGGCAGCCGCGCTCCGCGGCCCCGGGGCAGCGCGGCGGGAACCGCAGCCAAGCCCCCCGACACGGGGCGCACGGGGGCCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGC... | CTTTTTGGCGCTAACTCTTAGGCAGCCAGCCCAGCAGCCCGAAGCCCGGGCAGCCGCGCTCCGCGGCCCCGGGGCAGCGCGGCGGGAACCGCAGCCAAGCCCCCCGACACGGGGCGCACGGGGGCCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGC... |
Task1_train_27964 | Given this context: Chromosome 20, gene GNAS (GNAS complex locus) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Pseudohypoparathyroidism type I A | TTTTGGCGCTAACTCTTAGGCAGCCAGCCCAGCAGCCCGAAGCCCGGGCAGCCGCGCTCCGCGGCCCCGGGGCAGCGCGGCGGGAACCGCAGCCAAGCCCCCCGACACGGGGCGCACGGGGGCCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCG... | TTTTGGCGCTAACTCTTAGGCAGCCAGCCCAGCAGCCCGAAGCCCGGGCAGCCGCGCTCCGCGGCCCCGGGGCAGCGCGGCGGGAACCGCAGCCAAGCCCCCCGACACGGGGCGCACGGGGGCCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCG... |
Task1_train_27965 | Given this context: Chromosome 20, gene GNAS (GNAS complex locus) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | GCGCTAACTCTTAGGCAGCCAGCCCAGCAGCCCGAAGCCCGGGCAGCCGCGCTCCGCGGCCCCGGGGCAGCGCGGCGGGAACCGCAGCCAAGCCCCCCGACACGGGGCGCACGGGGGCCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCGAGAGA... | GCGCTAACTCTTAGGCAGCCAGCCCAGCAGCCCGAAGCCCGGGCAGCCGCGCTCCGCGGCCCCGGGGCAGCGCGGCGGGAACCGCAGCCAAGCCCCCCGACACGGGGCGCACGGGGGCCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCGAGAGA... |
Task1_train_27966 | Gene GNAS (GNAS complex locus) on Chromosome 20 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Pseudohypoparathyroidism type I A | GCCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCGAGAGAGCCGCTCGCGCCGCGGAAGAGCGGGGACCCCGAGAAGCTCGCGAAGAACCCCAAGAACCCGGCGCGGGAGGCGCTCCCCGAAAAGTTCCTAACAGACAAGGAGCGCAAGAAGCTCG... | GCCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCGAGAGAGCCGCTCGCGCCGCGGAAGAGCGGGGACCCCGAGAAGCTCGCGAAGAACCCCAAGAACCCGGCGCGGGAGGCGCTCCCCGAAAAGTTCCTAACAGACAAGGAGCGCAAGAAGCTCG... |
Task1_train_27967 | Consider a variant on Chromosome 20 in gene GNAS (GNAS complex locus). Determine its clinical classification and disease relevance. | Pathogenic; GNAS-related disorder | GCCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCGAGAGAGCCGCTCGCGCCGCGGAAGAGCGGGGACCCCGAGAAGCTCGCGAAGAACCCCAAGAACCCGGCGCGGGAGGCGCTCCCCGAAAAGTTCCTAACAGACAAGGAGCGCAAGAAGCTCG... | GCCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCGAGAGAGCCGCTCGCGCCGCGGAAGAGCGGGGACCCCGAGAAGCTCGCGAAGAACCCCAAGAACCCGGCGCGGGAGGCGCTCCCCGAAAAGTTCCTAACAGACAAGGAGCGCAAGAAGCTCG... |
Task1_train_27968 | Here is a variant affecting GNAS (GNAS complex locus) on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | CCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCGAGAGAGCCGCTCGCGCCGCGGAAGAGCGGGGACCCCGAGAAGCTCGCGAAGAACCCCAAGAACCCGGCGCGGGAGGCGCTCCCCGAAAAGTTCCTAACAGACAAGGAGCGCAAGAAGCTCGA... | CCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCGAGAGAGCCGCTCGCGCCGCGGAAGAGCGGGGACCCCGAGAAGCTCGCGAAGAACCCCAAGAACCCGGCGCGGGAGGCGCTCCCCGAAAAGTTCCTAACAGACAAGGAGCGCAAGAAGCTCGA... |
Task1_train_27969 | This alteration in GNAS (GNAS complex locus) on Chromosome 20 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Pseudohypoparathyroidism type I A | GGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCGAGAGAGCCGCTCGCGCCGCGGAAGAGCGGGGACCCCGAGAAGCTCGCGAAGAACCCCAAGAACCCGGCGCGGGAGGCGCTCCCCGAAAAGTTCCTAACAGACAAGGAGCGCAAGAAGCTCGAGA... | GGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCGAGAGAGCCGCTCGCGCCGCGGAAGAGCGGGGACCCCGAGAAGCTCGCGAAGAACCCCAAGAACCCGGCGCGGGAGGCGCTCCCCGAAAAGTTCCTAACAGACAAGGAGCGCAAGAAGCTCGAGA... |
Task1_train_27970 | This variant impacts the gene GNAS (GNAS complex locus) on Chromosome 20. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | CCAGATTTATAAAAGCAGAAAATTACTAATTAAGTCAAAATAAGTGTCTTTGGTGTTTATGCATTTGCAATTTCAGTAATTAAATGGTACATGTGTTGCTGTCTTGTCTAAAACTTTTAAAGGCAGAATTATGCTGTTGGGATATTAGTATGCGTATAACTTGATTTCAAAGTATAAATCTGGAAAAGTCTAGAATCTTTTCTGTGAATGCTATCTCAGTACTACTTTAAGTCAAGTGTGATGCTAATGATATCTTAAAATTTCCAACACCTTTTGTGCAGTGATCACAAAGTCTCCACTTAATTTGAGACTGTTACTCA... | CCAGATTTATAAAAGCAGAAAATTACTAATTAAGTCAAAATAAGTGTCTTTGGTGTTTATGCATTTGCAATTTCAGTAATTAAATGGTACATGTGTTGCTGTCTTGTCTAAAACTTTTAAAGGCAGAATTATGCTGTTGGGATATTAGTATGCGTATAACTTGATTTCAAAGTATAAATCTGGAAAAGTCTAGAATCTTTTCTGTGAATGCTATCTCAGTACTACTTTAAGTCAAGTGTGATGCTAATGATATCTTAAAATTTCCAACACCTTTTGTGCAGTGATCACAAAGTCTCCACTTAATTTGAGACTGTTACTCA... |
Task1_train_27971 | An alteration has been detected in GNAS (GNAS complex locus) on Chromosome 20. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Pseudohypoparathyroidism | AAATGGCCCTGAGGGGATTCCTGGCAACATCTGTCCCCCCTCCCCACCCCAGACACCCCCCACCACTAATGAGCGTGGCCCCTCTGAACTTCCCCAGCTCTTCACCCAATGTAGAAGAGCAGTGGTGCAGTGACCTGTGAAAGGGGCTTCACGTAGGAAGGGGGCGAGATGGGATCCTTCAGCAGGTGAAGGCCCAGAAGTACACAGACATTTATTCAGAAAGAATAAATTTGTAAGTATAATTCTTTGAGAAAGGAAAGACCAAATGATTTGTGGAAGGCCTGTCGACAGGCCCGCACTTGACCCCACCGTCCGTCCCC... | AAATGGCCCTGAGGGGATTCCTGGCAACATCTGTCCCCCCTCCCCACCCCAGACACCCCCCACCACTAATGAGCGTGGCCCCTCTGAACTTCCCCAGCTCTTCACCCAATGTAGAAGAGCAGTGGTGCAGTGACCTGTGAAAGGGGCTTCACGTAGGAAGGGGGCGAGATGGGATCCTTCAGCAGGTGAAGGCCCAGAAGTACACAGACATTTATTCAGAAAGAATAAATTTGTAAGTATAATTCTTTGAGAAAGGAAAGACCAAATGATTTGTGGAAGGCCTGTCGACAGGCCCGCACTTGACCCCACCGTCCGTCCCC... |
Task1_train_27972 | A variant found in Chromosome 20 affects GNAS (GNAS complex locus). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; GNAS-associated disease | AATGTAGAAGAGCAGTGGTGCAGTGACCTGTGAAAGGGGCTTCACGTAGGAAGGGGGCGAGATGGGATCCTTCAGCAGGTGAAGGCCCAGAAGTACACAGACATTTATTCAGAAAGAATAAATTTGTAAGTATAATTCTTTGAGAAAGGAAAGACCAAATGATTTGTGGAAGGCCTGTCGACAGGCCCGCACTTGACCCCACCGTCCGTCCCCGCCCCCCACCCCTGCTGCTCCACTGACTGCCCTGCCCTGCTCGTCTGCTCGTCTGCTCTTGCTAATTAACCTCCCTTCGCCTTTCCTCTGCCTTAACTGTCGTGTTC... | AATGTAGAAGAGCAGTGGTGCAGTGACCTGTGAAAGGGGCTTCACGTAGGAAGGGGGCGAGATGGGATCCTTCAGCAGGTGAAGGCCCAGAAGTACACAGACATTTATTCAGAAAGAATAAATTTGTAAGTATAATTCTTTGAGAAAGGAAAGACCAAATGATTTGTGGAAGGCCTGTCGACAGGCCCGCACTTGACCCCACCGTCCGTCCCCGCCCCCCACCCCTGCTGCTCCACTGACTGCCCTGCCCTGCTCGTCTGCTCGTCTGCTCTTGCTAATTAACCTCCCTTCGCCTTTCCTCTGCCTTAACTGTCGTGTTC... |
Task1_train_27973 | Consider a variant on Chromosome 20 in gene GNAS (GNAS complex locus). Determine its clinical classification and disease relevance. | Pathogenic; not provided | CCTGTGAAAGGGGCTTCACGTAGGAAGGGGGCGAGATGGGATCCTTCAGCAGGTGAAGGCCCAGAAGTACACAGACATTTATTCAGAAAGAATAAATTTGTAAGTATAATTCTTTGAGAAAGGAAAGACCAAATGATTTGTGGAAGGCCTGTCGACAGGCCCGCACTTGACCCCACCGTCCGTCCCCGCCCCCCACCCCTGCTGCTCCACTGACTGCCCTGCCCTGCTCGTCTGCTCGTCTGCTCTTGCTAATTAACCTCCCTTCGCCTTTCCTCTGCCTTAACTGTCGTGTTCTAGTCTGGAGAGATTATATGTTTTAA... | CCTGTGAAAGGGGCTTCACGTAGGAAGGGGGCGAGATGGGATCCTTCAGCAGGTGAAGGCCCAGAAGTACACAGACATTTATTCAGAAAGAATAAATTTGTAAGTATAATTCTTTGAGAAAGGAAAGACCAAATGATTTGTGGAAGGCCTGTCGACAGGCCCGCACTTGACCCCACCGTCCGTCCCCGCCCCCCACCCCTGCTGCTCCACTGACTGCCCTGCCCTGCTCGTCTGCTCGTCTGCTCTTGCTAATTAACCTCCCTTCGCCTTTCCTCTGCCTTAACTGTCGTGTTCTAGTCTGGAGAGATTATATGTTTTAA... |
Task1_train_27974 | Given a variant located on Chromosome 20 and affecting GNAS (GNAS complex locus), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Pseudohypoparathyroidism type I A | CAGCAGGTGAAGGCCCAGAAGTACACAGACATTTATTCAGAAAGAATAAATTTGTAAGTATAATTCTTTGAGAAAGGAAAGACCAAATGATTTGTGGAAGGCCTGTCGACAGGCCCGCACTTGACCCCACCGTCCGTCCCCGCCCCCCACCCCTGCTGCTCCACTGACTGCCCTGCCCTGCTCGTCTGCTCGTCTGCTCTTGCTAATTAACCTCCCTTCGCCTTTCCTCTGCCTTAACTGTCGTGTTCTAGTCTGGAGAGATTATATGTTTTAATTTCTACTCCAGTCTATGAATTGGTGAATCAGCCAAGTGAATGCTT... | CAGCAGGTGAAGGCCCAGAAGTACACAGACATTTATTCAGAAAGAATAAATTTGTAAGTATAATTCTTTGAGAAAGGAAAGACCAAATGATTTGTGGAAGGCCTGTCGACAGGCCCGCACTTGACCCCACCGTCCGTCCCCGCCCCCCACCCCTGCTGCTCCACTGACTGCCCTGCCCTGCTCGTCTGCTCGTCTGCTCTTGCTAATTAACCTCCCTTCGCCTTTCCTCTGCCTTAACTGTCGTGTTCTAGTCTGGAGAGATTATATGTTTTAATTTCTACTCCAGTCTATGAATTGGTGAATCAGCCAAGTGAATGCTT... |
Task1_train_27975 | A mutation in GNAS (GNAS complex locus), located on Chromosome 20, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Inborn genetic diseases | TACCTCCAATCTTTGCACAGATCCGAACCCACAACTCCCTGAAGAACAGAATACTATGCTTTTTAGTCGGGATGTCTTTATGAAAGCAGTACTCCTAACTGACATGGTGCAATATGATTTTCTTTTCTTTTCAATCCCACTGCAGTGAGAAGGCAACCAAAGTGCAGGACATCAAAAACAACCTGAAAGAGGCGATTGAAGTACGTGCTGGCTCCTTGTGCTGTCTGTCTTGTAGCGCCCTCCCAGCCAGTGCTGTTCCCTGACCGCTTTGCTAAATCATTTTCAGACCATTGTGGCCGCCATGAGCAACCTGGTGCCCC... | TACCTCCAATCTTTGCACAGATCCGAACCCACAACTCCCTGAAGAACAGAATACTATGCTTTTTAGTCGGGATGTCTTTATGAAAGCAGTACTCCTAACTGACATGGTGCAATATGATTTTCTTTTCTTTTCAATCCCACTGCAGTGAGAAGGCAACCAAAGTGCAGGACATCAAAAACAACCTGAAAGAGGCGATTGAAGTACGTGCTGGCTCCTTGTGCTGTCTGTCTTGTAGCGCCCTCCCAGCCAGTGCTGTTCCCTGACCGCTTTGCTAAATCATTTTCAGACCATTGTGGCCGCCATGAGCAACCTGGTGCCCC... |
Task1_train_27976 | Assess the clinical impact of this variant on gene GNAS (GNAS complex locus), found on Chromosome 20. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Pseudohypoparathyroidism type I A | TCTTTGCACAGATCCGAACCCACAACTCCCTGAAGAACAGAATACTATGCTTTTTAGTCGGGATGTCTTTATGAAAGCAGTACTCCTAACTGACATGGTGCAATATGATTTTCTTTTCTTTTCAATCCCACTGCAGTGAGAAGGCAACCAAAGTGCAGGACATCAAAAACAACCTGAAAGAGGCGATTGAAGTACGTGCTGGCTCCTTGTGCTGTCTGTCTTGTAGCGCCCTCCCAGCCAGTGCTGTTCCCTGACCGCTTTGCTAAATCATTTTCAGACCATTGTGGCCGCCATGAGCAACCTGGTGCCCCCCGTGGAGC... | TCTTTGCACAGATCCGAACCCACAACTCCCTGAAGAACAGAATACTATGCTTTTTAGTCGGGATGTCTTTATGAAAGCAGTACTCCTAACTGACATGGTGCAATATGATTTTCTTTTCTTTTCAATCCCACTGCAGTGAGAAGGCAACCAAAGTGCAGGACATCAAAAACAACCTGAAAGAGGCGATTGAAGTACGTGCTGGCTCCTTGTGCTGTCTGTCTTGTAGCGCCCTCCCAGCCAGTGCTGTTCCCTGACCGCTTTGCTAAATCATTTTCAGACCATTGTGGCCGCCATGAGCAACCTGGTGCCCCCCGTGGAGC... |
Task1_train_27977 | Here is a genetic alteration in GNAS (GNAS complex locus) on Chromosome 20. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hereditary spastic paraplegia 4 | TCTTTGCACAGATCCGAACCCACAACTCCCTGAAGAACAGAATACTATGCTTTTTAGTCGGGATGTCTTTATGAAAGCAGTACTCCTAACTGACATGGTGCAATATGATTTTCTTTTCTTTTCAATCCCACTGCAGTGAGAAGGCAACCAAAGTGCAGGACATCAAAAACAACCTGAAAGAGGCGATTGAAGTACGTGCTGGCTCCTTGTGCTGTCTGTCTTGTAGCGCCCTCCCAGCCAGTGCTGTTCCCTGACCGCTTTGCTAAATCATTTTCAGACCATTGTGGCCGCCATGAGCAACCTGGTGCCCCCCGTGGAGC... | TCTTTGCACAGATCCGAACCCACAACTCCCTGAAGAACAGAATACTATGCTTTTTAGTCGGGATGTCTTTATGAAAGCAGTACTCCTAACTGACATGGTGCAATATGATTTTCTTTTCTTTTCAATCCCACTGCAGTGAGAAGGCAACCAAAGTGCAGGACATCAAAAACAACCTGAAAGAGGCGATTGAAGTACGTGCTGGCTCCTTGTGCTGTCTGTCTTGTAGCGCCCTCCCAGCCAGTGCTGTTCCCTGACCGCTTTGCTAAATCATTTTCAGACCATTGTGGCCGCCATGAGCAACCTGGTGCCCCCCGTGGAGC... |
Task1_train_27978 | Consider this mutation in GNAS (GNAS complex locus) on Chromosome 20. Is this a benign change or a disease-causing variant? | Pathogenic; Pseudohypoparathyroidism type I A | AGTCCATCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGT... | AGTCCATCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGT... |
Task1_train_27979 | A mutation on Chromosome 20 affecting GNAS (GNAS complex locus) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Pseudohypoparathyroidism type I A | GTCCATCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTT... | GTCCATCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTT... |
Task1_train_27980 | Assess the clinical impact of this variant on gene GNAS (GNAS complex locus), found on Chromosome 20. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Polyostotic fibrous dysplasia, somatic, mosaic | TCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGG... | TCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGG... |
Task1_train_27981 | A sequence alteration has been identified in GNAS (GNAS complex locus) on Chromosome 20. Is it disease-inducing or harmless? | Pathogenic; PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC | TCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGG... | TCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGG... |
Task1_train_27982 | This gene mutation involves GNAS (GNAS complex locus) on Chromosome 20. Is it associated with any clinical condition, or is it benign? | Pathogenic; ACTH-independent macronodular adrenal hyperplasia 1 | TCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGG... | TCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGG... |
Task1_train_27983 | Gene GNAS (GNAS complex locus) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; McCune-Albright syndrome | TCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGG... | TCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGG... |
Task1_train_27984 | A change on Chromosome 20 affects gene GNAS (GNAS complex locus). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Pseudohypoparathyroidism type 1B | TCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGG... | TCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGG... |
Task1_train_27985 | The variant affects gene GNAS (GNAS complex locus), which is on Chromosome 20. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; McCune-Albright syndrome | TCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGG... | TCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGG... |
Task1_train_27986 | This sequence change occurs on Chromosome 20, altering GNAS (GNAS complex locus). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Neoplasm | TCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGG... | TCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGG... |
Task1_train_27987 | This genomic variant is located on Chromosome 20, within the GNAS (GNAS complex locus) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Pseudohypoparathyroidism type 1B | CTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGG... | CTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGG... |
Task1_train_27988 | Consider this mutation in GNAS (GNAS complex locus) on Chromosome 20. Is this a benign change or a disease-causing variant? | Pathogenic; Pseudopseudohypoparathyroidism | CTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGG... | CTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGG... |
Task1_train_27989 | A variant on Chromosome 20 in gene GNAS (GNAS complex locus) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Progressive osseous heteroplasia | CTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGG... | CTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGG... |
Task1_train_27990 | A variant affecting Chromosome 20, within the gene GNAS (GNAS complex locus), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Pseudohypoparathyroidism type 1C | CTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGG... | CTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGG... |
Task1_train_27991 | This sequence variant lies in GNAS (GNAS complex locus) on Chromosome 20. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Pituitary adenoma 3, multiple types | CTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGG... | CTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGG... |
Task1_train_27992 | This genomic variant is located on Chromosome 20, within the GNAS (GNAS complex locus) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; ACTH-independent macronodular adrenal hyperplasia 1 | CTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGG... | CTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGG... |
Task1_train_27993 | A mutation on Chromosome 20 affecting GNAS (GNAS complex locus) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Pseudohypoparathyroidism type I A | CTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGG... | CTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGG... |
Task1_train_27994 | With a mutation on Chromosome 20 in gene GNAS (GNAS complex locus), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; McCune-Albright syndrome | CTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGG... | CTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGG... |
Task1_train_27995 | Here is a genetic alteration in GNAS (GNAS complex locus) on Chromosome 20. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Pseudohypoparathyroidism type I A | CTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGG... | CTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGG... |
Task1_train_27996 | This variant affects the gene GNAS (GNAS complex locus) found on Chromosome 20. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Inborn genetic diseases | CTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGG... | CTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGG... |
Task1_train_27997 | This mutation is located in gene GNAS (GNAS complex locus) on Chromosome 20. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; McCune-Albright syndrome | CTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGG... | CTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGG... |
Task1_train_27998 | A variant affecting Chromosome 20, within the gene GNAS (GNAS complex locus), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Neoplasm | CTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGG... | CTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGG... |
Task1_train_27999 | A variant was discovered in gene GNAS (GNAS complex locus), Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Pituitary adenoma 3, multiple types | ACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGGGTTTTTTTAAGCAACACTTAATTACTCCTGAAACTTTGTCTGAAAACGCACCATTTGTATAGATCATGAAAAGTTTTAAGGAAACTCAGAGAAAAAGAGAACAACGCAGCTTAAAACTTTTAAAATGTCCTCCCTCACCCGTGGCTCAAACAGCCCTGCATCTGCCGTGGCCGGC... | ACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGGGTTTTTTTAAGCAACACTTAATTACTCCTGAAACTTTGTCTGAAAACGCACCATTTGTATAGATCATGAAAAGTTTTAAGGAAACTCAGAGAAAAAGAGAACAACGCAGCTTAAAACTTTTAAAATGTCCTCCCTCACCCGTGGCTCAAACAGCCCTGCATCTGCCGTGGCCGGC... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.