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_24100 | A variant was discovered on Chromosome 17, affecting NF1 (neurofibromin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Neurofibromatosis, type 1 | TTGGCTAAAACCATCTCACTCCAGAGCTCCAGATGGGTCATTCCTACCAGACTATTCGCCTAAGGAGTTTGGTGGGCCCTGCAGGCAACCAACTAATTCCCACTGTTTTCTTCCTTTCTTGACTCATGGGCAAATTTTTTATTGTTGTCGTGGCTCAAAATTTTTGAATTGGAGATTTGTCTCTTCTCTTAGCCTTATTTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTT... | TTGGCTAAAACCATCTCACTCCAGAGCTCCAGATGGGTCATTCCTACCAGACTATTCGCCTAAGGAGTTTGGTGGGCCCTGCAGGCAACCAACTAATTCCCACTGTTTTCTTCCTTTCTTGACTCATGGGCAAATTTTTTATTGTTGTCGTGGCTCAAAATTTTTGAATTGGAGATTTGTCTCTTCTCTTAGCCTTATTTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTT... |
Task1_train_24101 | The gene NF1 (neurofibromin 1) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Neurofibromatosis, type 1 | ACCAGACTATTCGCCTAAGGAGTTTGGTGGGCCCTGCAGGCAACCAACTAATTCCCACTGTTTTCTTCCTTTCTTGACTCATGGGCAAATTTTTTATTGTTGTCGTGGCTCAAAATTTTTGAATTGGAGATTTGTCTCTTCTCTTAGCCTTATTTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCT... | ACCAGACTATTCGCCTAAGGAGTTTGGTGGGCCCTGCAGGCAACCAACTAATTCCCACTGTTTTCTTCCTTTCTTGACTCATGGGCAAATTTTTTATTGTTGTCGTGGCTCAAAATTTTTGAATTGGAGATTTGTCTCTTCTCTTAGCCTTATTTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCT... |
Task1_train_24102 | A variant on Chromosome 17 in gene NF1 (neurofibromin 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hereditary cancer-predisposing syndrome | ACCAGACTATTCGCCTAAGGAGTTTGGTGGGCCCTGCAGGCAACCAACTAATTCCCACTGTTTTCTTCCTTTCTTGACTCATGGGCAAATTTTTTATTGTTGTCGTGGCTCAAAATTTTTGAATTGGAGATTTGTCTCTTCTCTTAGCCTTATTTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCT... | ACCAGACTATTCGCCTAAGGAGTTTGGTGGGCCCTGCAGGCAACCAACTAATTCCCACTGTTTTCTTCCTTTCTTGACTCATGGGCAAATTTTTTATTGTTGTCGTGGCTCAAAATTTTTGAATTGGAGATTTGTCTCTTCTCTTAGCCTTATTTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCT... |
Task1_train_24103 | This sequence change occurs on Chromosome 17, altering NF1 (neurofibromin 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Cardiovascular phenotype | ACCAGACTATTCGCCTAAGGAGTTTGGTGGGCCCTGCAGGCAACCAACTAATTCCCACTGTTTTCTTCCTTTCTTGACTCATGGGCAAATTTTTTATTGTTGTCGTGGCTCAAAATTTTTGAATTGGAGATTTGTCTCTTCTCTTAGCCTTATTTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCT... | ACCAGACTATTCGCCTAAGGAGTTTGGTGGGCCCTGCAGGCAACCAACTAATTCCCACTGTTTTCTTCCTTTCTTGACTCATGGGCAAATTTTTTATTGTTGTCGTGGCTCAAAATTTTTGAATTGGAGATTTGTCTCTTCTCTTAGCCTTATTTCTCAGTGTCCAAAAAACAACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCT... |
Task1_train_24104 | The gene NF1 (neurofibromin 1) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Neurofibromatosis, type 1 | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... |
Task1_train_24105 | Given this context: Chromosome 17, gene NF1 (neurofibromin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Neurodevelopmental delay | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... |
Task1_train_24106 | An alteration has been detected in NF1 (neurofibromin 1) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Neurofibromatosis, type 1 | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... |
Task1_train_24107 | The following genetic variant occurs in NF1 (neurofibromin 1) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Neurofibromatosis-Noonan syndrome | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... |
Task1_train_24108 | This gene mutation involves NF1 (neurofibromin 1) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Café-au-lait macules with pulmonary stenosis | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... |
Task1_train_24109 | A variant was discovered on Chromosome 17, affecting NF1 (neurofibromin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Neurofibromatosis, familial spinal | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... |
Task1_train_24110 | This mutation occurs in NF1 (neurofibromin 1) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Neurofibromatosis, type 1 | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... |
Task1_train_24111 | Here’s a variant in NF1 (neurofibromin 1) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Juvenile myelomonocytic leukemia | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... |
Task1_train_24112 | The gene NF1 (neurofibromin 1), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Neurofibromatosis-Noonan syndrome | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... |
Task1_train_24113 | A mutation in NF1 (neurofibromin 1), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not specified | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... |
Task1_train_24114 | This mutation is located in gene NF1 (neurofibromin 1) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Intellectual disability | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... |
Task1_train_24115 | A variant affecting Chromosome 17, within the gene NF1 (neurofibromin 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Cardiovascular phenotype | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... |
Task1_train_24116 | The gene NF1 (neurofibromin 1) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hereditary cancer-predisposing syndrome | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... |
Task1_train_24117 | Given a variant located on Chromosome 17 and affecting NF1 (neurofibromin 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Neurofibromatosis, type 1 | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... |
Task1_train_24118 | This variant impacts the gene NF1 (neurofibromin 1) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Neurofibromatosis-Noonan syndrome | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... |
Task1_train_24119 | This alteration occurs within gene NF1 (neurofibromin 1) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Café-au-lait macules with pulmonary stenosis | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... |
Task1_train_24120 | This alteration occurs within gene NF1 (neurofibromin 1) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Neurofibromatosis, familial spinal | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... |
Task1_train_24121 | This alteration occurs within gene NF1 (neurofibromin 1) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Juvenile myelomonocytic leukemia | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... | ACTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCT... |
Task1_train_24122 | This gene mutation involves NF1 (neurofibromin 1) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Neurofibromatosis, type 1 | CTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTT... | CTGATTTAAAAAATGAATCCAGACTTTGAAGAATTGTTTTATATTATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTT... |
Task1_train_24123 | The variant affects gene NF1 (neurofibromin 1), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Neurofibromatosis, type 1 | ATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTC... | ATTCTCTCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTC... |
Task1_train_24124 | This gene mutation involves NF1 (neurofibromin 1) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Neurofibromatosis-Noonan syndrome | TCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGT... | TCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGT... |
Task1_train_24125 | The variant affects gene NF1 (neurofibromin 1), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Neurofibromatosis, type 1 | TCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGT... | TCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGT... |
Task1_train_24126 | This alteration occurs within gene NF1 (neurofibromin 1) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Hereditary cancer-predisposing syndrome | TCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGT... | TCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGT... |
Task1_train_24127 | This mutation is located in gene NF1 (neurofibromin 1) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Cardiovascular phenotype | TCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGT... | TCTAGAAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGT... |
Task1_train_24128 | This alteration in NF1 (neurofibromin 1) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Neurofibromatosis, type 1 | AAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGG... | AAAATGAATCATAAAATAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGG... |
Task1_train_24129 | Gene NF1 (neurofibromin 1), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Neurofibromatosis, type 1 | TAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCA... | TAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCA... |
Task1_train_24130 | A sequence alteration has been identified in NF1 (neurofibromin 1) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Cardiovascular phenotype | TAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCA... | TAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCA... |
Task1_train_24131 | The gene NF1 (neurofibromin 1) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hereditary cancer-predisposing syndrome | TAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCA... | TAAAATTGATTAGTGGCATCTGTATATTTATTTTAAACACTGCTAATAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCA... |
Task1_train_24132 | This alteration occurs within gene NF1 (neurofibromin 1) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Juvenile myelomonocytic leukemia | ATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCATGAGCGGCTGCTGACTGGCCTCAAAGGTAGCAAAAGGCTTGTTTTCAT... | ATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCATGAGCGGCTGCTGACTGGCCTCAAAGGTAGCAAAAGGCTTGTTTTCAT... |
Task1_train_24133 | Given this context: Chromosome 17, gene NF1 (neurofibromin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Neurofibromatosis, type 1 | ATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCATGAGCGGCTGCTGACTGGCCTCAAAGGTAGCAAAAGGCTTGTTTTCAT... | ATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCATGAGCGGCTGCTGACTGGCCTCAAAGGTAGCAAAAGGCTTGTTTTCAT... |
Task1_train_24134 | Assess the clinical impact of this variant on gene NF1 (neurofibromin 1), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hereditary cancer-predisposing syndrome | ATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCATGAGCGGCTGCTGACTGGCCTCAAAGGTAGCAAAAGGCTTGTTTTCAT... | ATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCATGAGCGGCTGCTGACTGGCCTCAAAGGTAGCAAAAGGCTTGTTTTCAT... |
Task1_train_24135 | Mutation context: Chromosome 17, Gene NF1 (neurofibromin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Neurofibromatosis, familial spinal | ATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCATGAGCGGCTGCTGACTGGCCTCAAAGGTAGCAAAAGGCTTGTTTTCAT... | ATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCATGAGCGGCTGCTGACTGGCCTCAAAGGTAGCAAAAGGCTTGTTTTCAT... |
Task1_train_24136 | A variant affecting Chromosome 17, within the gene NF1 (neurofibromin 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Juvenile myelomonocytic leukemia | ATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCATGAGCGGCTGCTGACTGGCCTCAAAGGTAGCAAAAGGCTTGTTTTCAT... | ATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCATGAGCGGCTGCTGACTGGCCTCAAAGGTAGCAAAAGGCTTGTTTTCAT... |
Task1_train_24137 | A mutation found in NF1 (neurofibromin 1) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Neurofibromatosis-Noonan syndrome | ATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCATGAGCGGCTGCTGACTGGCCTCAAAGGTAGCAAAAGGCTTGTTTTCAT... | ATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCATGAGCGGCTGCTGACTGGCCTCAAAGGTAGCAAAAGGCTTGTTTTCAT... |
Task1_train_24138 | A genetic alteration is present in NF1 (neurofibromin 1) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Café-au-lait macules with pulmonary stenosis | ATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCATGAGCGGCTGCTGACTGGCCTCAAAGGTAGCAAAAGGCTTGTTTTCAT... | ATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCATGAGCGGCTGCTGACTGGCCTCAAAGGTAGCAAAAGGCTTGTTTTCAT... |
Task1_train_24139 | This variant impacts the gene NF1 (neurofibromin 1) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Neurofibromatosis, type 1 | ATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCATGAGCGGCTGCTGACTGGCCTCAAAGGTAGCAAAAGGCTTGTTTTCAT... | ATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCATGAGCGGCTGCTGACTGGCCTCAAAGGTAGCAAAAGGCTTGTTTTCAT... |
Task1_train_24140 | Here’s a variant in NF1 (neurofibromin 1) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hereditary cancer-predisposing syndrome | ATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCATGAGCGGCTGCTGACTGGCCTCAAAGGTAGCAAAAGGCTTGTTTTCAT... | ATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCATGAGCGGCTGCTGACTGGCCTCAAAGGTAGCAAAAGGCTTGTTTTCAT... |
Task1_train_24141 | This variant affects gene NF1 (neurofibromin 1) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Cardiovascular phenotype | ATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCATGAGCGGCTGCTGACTGGCCTCAAAGGTAGCAAAAGGCTTGTTTTCAT... | ATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCATGAGCGGCTGCTGACTGGCCTCAAAGGTAGCAAAAGGCTTGTTTTCAT... |
Task1_train_24142 | The gene NF1 (neurofibromin 1), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Neurofibromatosis, type 1 | ATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCATGAGCGGCTGCTGACTGGCCTCAAAGGTAGCAAAAGGCTTGTTTTCAT... | ATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCATGAGCGGCTGCTGACTGGCCTCAAAGGTAGCAAAAGGCTTGTTTTCAT... |
Task1_train_24143 | A change on Chromosome 17 affects gene NF1 (neurofibromin 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hereditary cancer-predisposing syndrome | CTTAACAAAATTCTCAAAATAAATCTTAAGACAAATAAGTCATCTGAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATT... | CTTAACAAAATTCTCAAAATAAATCTTAAGACAAATAAGTCATCTGAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATT... |
Task1_train_24144 | This gene mutation involves NF1 (neurofibromin 1) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Cardiovascular phenotype | CTTAACAAAATTCTCAAAATAAATCTTAAGACAAATAAGTCATCTGAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATT... | CTTAACAAAATTCTCAAAATAAATCTTAAGACAAATAAGTCATCTGAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATT... |
Task1_train_24145 | With a mutation on Chromosome 17 in gene NF1 (neurofibromin 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Neurofibromatosis, type 1 | CTTAACAAAATTCTCAAAATAAATCTTAAGACAAATAAGTCATCTGAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATT... | CTTAACAAAATTCTCAAAATAAATCTTAAGACAAATAAGTCATCTGAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATT... |
Task1_train_24146 | A variant was discovered on Chromosome 17, affecting NF1 (neurofibromin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Neurofibromatosis, type 1 | AAATCTTAAGACAAATAAGTCATCTGAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCT... | AAATCTTAAGACAAATAAGTCATCTGAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCT... |
Task1_train_24147 | The gene NF1 (neurofibromin 1) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Juvenile myelomonocytic leukemia | ATCTTAAGACAAATAAGTCATCTGAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGC... | ATCTTAAGACAAATAAGTCATCTGAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGC... |
Task1_train_24148 | This variant lies on Chromosome 17 and affects the gene NF1 (neurofibromin 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Neurofibromatosis, type 1 | ATCTTAAGACAAATAAGTCATCTGAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGC... | ATCTTAAGACAAATAAGTCATCTGAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGC... |
Task1_train_24149 | The gene NF1 (neurofibromin 1) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; NF1-related disorder | GTCATCTGAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGCCAGCATCTCCTTGCAC... | GTCATCTGAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGCCAGCATCTCCTTGCAC... |
Task1_train_24150 | The gene NF1 (neurofibromin 1) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Neurofibromatosis, type 1 | GTCATCTGAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGCCAGCATCTCCTTGCAC... | GTCATCTGAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGCCAGCATCTCCTTGCAC... |
Task1_train_24151 | A variant on Chromosome 17 in gene NF1 (neurofibromin 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Neurofibromatosis, type 1 | TCATCTGAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGCCAGCATCTCCTTGCACC... | TCATCTGAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGCCAGCATCTCCTTGCACC... |
Task1_train_24152 | This alteration occurs within gene NF1 (neurofibromin 1) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | ATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAATCAGTTATCAGC... | ATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAATCAGTTATCAGC... |
Task1_train_24153 | Gene NF1 (neurofibromin 1) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Neurofibromatosis, type 1 | TGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAATCAGTTATCAGCTTGGCAAAGATT... | TGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAATCAGTTATCAGCTTGGCAAAGATT... |
Task1_train_24154 | A variant affecting Chromosome 17, within the gene NF1 (neurofibromin 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Neurofibromatosis, type 1 | AAAAAAAAAATGAATAATCTCAGTATAATCACTGAAAAAAATATTCAGAGCCTACTGCATGTATAGCATAATCCCCGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACT... | AAAAAAAAAATGAATAATCTCAGTATAATCACTGAAAAAAATATTCAGAGCCTACTGCATGTATAGCATAATCCCCGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACT... |
Task1_train_24155 | With a mutation on Chromosome 17 in gene NF1 (neurofibromin 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hereditary cancer-predisposing syndrome | TGAAAAAAATATTCAGAGCCTACTGCATGTATAGCATAATCCCCGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATT... | TGAAAAAAATATTCAGAGCCTACTGCATGTATAGCATAATCCCCGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATT... |
Task1_train_24156 | The gene NF1 (neurofibromin 1) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cardiovascular phenotype | TGAAAAAAATATTCAGAGCCTACTGCATGTATAGCATAATCCCCGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATT... | TGAAAAAAATATTCAGAGCCTACTGCATGTATAGCATAATCCCCGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATT... |
Task1_train_24157 | Assess the clinical impact of this variant on gene NF1 (neurofibromin 1), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Neurofibromatosis, type 1 | TGAAAAAAATATTCAGAGCCTACTGCATGTATAGCATAATCCCCGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATT... | TGAAAAAAATATTCAGAGCCTACTGCATGTATAGCATAATCCCCGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATT... |
Task1_train_24158 | A genomic change on Chromosome 17 affects NF1 (neurofibromin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Neurofibromatosis, type 1 | TTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTC... | TTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTC... |
Task1_train_24159 | This gene mutation involves NF1 (neurofibromin 1) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Neurofibromatosis, type 1 | ATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCTTCAGAAAGCATGTAGACACTCACCCAGCTC... | ATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCTTCAGAAAGCATGTAGACACTCACCCAGCTC... |
Task1_train_24160 | The variant affects gene NF1 (neurofibromin 1), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Neurofibromatosis, type 1 | GCTTTATTCTAGTTCTCTACATTCCAAAGGTGTCAGTAGATGTTTCTTCTTATTGATGCTATTTGGGACATCTGCTTTCATTTATAGTTCTACATAAGAATGCCAATATTAAAATAGGATATAATGTAAATTTTATTTTTATCTGACAAGAATTAGGCATATCATTTCTTCAAAGTAATCATTTAAGGAAATAATGCCCTCACTCAAACACTGCTGCTCCTCCTCCAAATAATTAGAAATAACCTTGGAGCCAGTGTTGCAGCCCTAGAAAACATCCTGGTACTTAATGTCATTTCCTATATTTTATTTTTTTTTGAGAC... | GCTTTATTCTAGTTCTCTACATTCCAAAGGTGTCAGTAGATGTTTCTTCTTATTGATGCTATTTGGGACATCTGCTTTCATTTATAGTTCTACATAAGAATGCCAATATTAAAATAGGATATAATGTAAATTTTATTTTTATCTGACAAGAATTAGGCATATCATTTCTTCAAAGTAATCATTTAAGGAAATAATGCCCTCACTCAAACACTGCTGCTCCTCCTCCAAATAATTAGAAATAACCTTGGAGCCAGTGTTGCAGCCCTAGAAAACATCCTGGTACTTAATGTCATTTCCTATATTTTATTTTTTTTTGAGAC... |
Task1_train_24161 | A variant found in Chromosome 17 affects NF1 (neurofibromin 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Neurofibromatosis, type 1 | TAGTTCTACATAAGAATGCCAATATTAAAATAGGATATAATGTAAATTTTATTTTTATCTGACAAGAATTAGGCATATCATTTCTTCAAAGTAATCATTTAAGGAAATAATGCCCTCACTCAAACACTGCTGCTCCTCCTCCAAATAATTAGAAATAACCTTGGAGCCAGTGTTGCAGCCCTAGAAAACATCCTGGTACTTAATGTCATTTCCTATATTTTATTTTTTTTTGAGACTGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTACAGTCTCGGCTCATTGCAACCTCTGCCTCCCAGGCTCAAGTGACC... | TAGTTCTACATAAGAATGCCAATATTAAAATAGGATATAATGTAAATTTTATTTTTATCTGACAAGAATTAGGCATATCATTTCTTCAAAGTAATCATTTAAGGAAATAATGCCCTCACTCAAACACTGCTGCTCCTCCTCCAAATAATTAGAAATAACCTTGGAGCCAGTGTTGCAGCCCTAGAAAACATCCTGGTACTTAATGTCATTTCCTATATTTTATTTTTTTTTGAGACTGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTACAGTCTCGGCTCATTGCAACCTCTGCCTCCCAGGCTCAAGTGACC... |
Task1_train_24162 | This variant affects the gene NF1 (neurofibromin 1) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Neurofibromatosis, type 1 | TTTAAAATTTTTGAATACCAATCTCTTAATCTCTGAAGGAGTCAAATGAATATACTCATCCTTTACTGGATATTTTATAATAAATTGTATTTACTGACAGGCCTGTAAATAAAATCTAGTATTTTTGAGGCCTCAGGTAAAATAGAATTTTCATATTGATTAGGCTGTTCCAATGAATATTTTTTAATTAAAAATTAAATTGGTAGAGTGATTAAAAACATGTTATTTTCCTTCTTCAACTAGATTACAGATCTGCTTGATGTTGTACTAGACAGTTTCATCAAAACCAGTGCAACAGGTGGCTTGGGATCAATAAAAGC... | TTTAAAATTTTTGAATACCAATCTCTTAATCTCTGAAGGAGTCAAATGAATATACTCATCCTTTACTGGATATTTTATAATAAATTGTATTTACTGACAGGCCTGTAAATAAAATCTAGTATTTTTGAGGCCTCAGGTAAAATAGAATTTTCATATTGATTAGGCTGTTCCAATGAATATTTTTTAATTAAAAATTAAATTGGTAGAGTGATTAAAAACATGTTATTTTCCTTCTTCAACTAGATTACAGATCTGCTTGATGTTGTACTAGACAGTTTCATCAAAACCAGTGCAACAGGTGGCTTGGGATCAATAAAAGC... |
Task1_train_24163 | Here is a mutation in NF1 (neurofibromin 1) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Neurofibromatosis, type 1 | TTAAAATTTTTGAATACCAATCTCTTAATCTCTGAAGGAGTCAAATGAATATACTCATCCTTTACTGGATATTTTATAATAAATTGTATTTACTGACAGGCCTGTAAATAAAATCTAGTATTTTTGAGGCCTCAGGTAAAATAGAATTTTCATATTGATTAGGCTGTTCCAATGAATATTTTTTAATTAAAAATTAAATTGGTAGAGTGATTAAAAACATGTTATTTTCCTTCTTCAACTAGATTACAGATCTGCTTGATGTTGTACTAGACAGTTTCATCAAAACCAGTGCAACAGGTGGCTTGGGATCAATAAAAGCT... | TTAAAATTTTTGAATACCAATCTCTTAATCTCTGAAGGAGTCAAATGAATATACTCATCCTTTACTGGATATTTTATAATAAATTGTATTTACTGACAGGCCTGTAAATAAAATCTAGTATTTTTGAGGCCTCAGGTAAAATAGAATTTTCATATTGATTAGGCTGTTCCAATGAATATTTTTTAATTAAAAATTAAATTGGTAGAGTGATTAAAAACATGTTATTTTCCTTCTTCAACTAGATTACAGATCTGCTTGATGTTGTACTAGACAGTTTCATCAAAACCAGTGCAACAGGTGGCTTGGGATCAATAAAAGCT... |
Task1_train_24164 | This variant lies on Chromosome 17 and affects the gene NF1 (neurofibromin 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Neurofibromatosis, type 1 | GTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTTGAGAGTTGCTTAAAAGGACCTGACACTTACAACAGTCAAGTTCTGATAGAAGCTACAGTAATAGCACTAACCAAATTACAGCCACTTCTTAATAAGGTAATTACTGTATAGAAAATGAGTGCATTCATTTTGGGTATCAGTGTTGAATGTTACTTTCT... | GTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTTGAGAGTTGCTTAAAAGGACCTGACACTTACAACAGTCAAGTTCTGATAGAAGCTACAGTAATAGCACTAACCAAATTACAGCCACTTCTTAATAAGGTAATTACTGTATAGAAAATGAGTGCATTCATTTTGGGTATCAGTGTTGAATGTTACTTTCT... |
Task1_train_24165 | Here is a variant affecting NF1 (neurofibromin 1) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Neurofibromatosis, type 1 | CATATCTTATGTATAGAAGTAATAAGACCATTTGGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAAACAAATTCTTTATTTTTTTTTCTGTTCCAAAGATTCATCCTATGGGGTGGCCATAAAGTCTAGAATTA... | CATATCTTATGTATAGAAGTAATAAGACCATTTGGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAAACAAATTCTTTATTTTTTTTTCTGTTCCAAAGATTCATCCTATGGGGTGGCCATAAAGTCTAGAATTA... |
Task1_train_24166 | A change on Chromosome 17 affects gene NF1 (neurofibromin 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Neurofibromatosis, type 1 | GGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAAACAAATTCTTTATTTTTTTTTCTGTTCCAAAGATTCATCCTATGGGGTGGCCATAAAGTCTAGAATTAGATACTAATATTTTGTCATTCATTATAACATATCGATAAACCATTTGTTAAAAGATTTGCCTGGTTTCCAGA... | GGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAAACAAATTCTTTATTTTTTTTTCTGTTCCAAAGATTCATCCTATGGGGTGGCCATAAAGTCTAGAATTAGATACTAATATTTTGTCATTCATTATAACATATCGATAAACCATTTGTTAAAAGATTTGCCTGGTTTCCAGA... |
Task1_train_24167 | A variant affecting Chromosome 17, within the gene SUZ12 (SUZ12 polycomb repressive complex 2 subunit), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Imagawa-Matsumoto syndrome | TTTTACTGATGTTGGAGGAACAAAGGAGCCAGATGAAGCTACTAGTTCGTTAGGTGGAAATTATTATTTTTCAGTATTAGGTGTCTATGGGGTTGTTAACTACTTTATAACACTTGATAGCTCCTATTTCTACAGAGAAGTTTTCTCACTTTTCCTTTGAACTTTATACTTAAGTTTTAATGATGTTAATGTCACTACTGCTGCAGTGGTTTGGGATTAAAGAATTCTGTCAGAAGTTTCTGGATAATTGGTTGAACCTGGGAGGTCGAGGTTGCAGTGAGCCGAGGTTGTGCCATTGCACTCCGGCCTGGGCAACAAGA... | TTTTACTGATGTTGGAGGAACAAAGGAGCCAGATGAAGCTACTAGTTCGTTAGGTGGAAATTATTATTTTTCAGTATTAGGTGTCTATGGGGTTGTTAACTACTTTATAACACTTGATAGCTCCTATTTCTACAGAGAAGTTTTCTCACTTTTCCTTTGAACTTTATACTTAAGTTTTAATGATGTTAATGTCACTACTGCTGCAGTGGTTTGGGATTAAAGAATTCTGTCAGAAGTTTCTGGATAATTGGTTGAACCTGGGAGGTCGAGGTTGCAGTGAGCCGAGGTTGTGCCATTGCACTCCGGCCTGGGCAACAAGA... |
Task1_train_24168 | A mutation found in SUZ12 (SUZ12 polycomb repressive complex 2 subunit) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Imagawa-Matsumoto syndrome | AAGGAGCCAGATGAAGCTACTAGTTCGTTAGGTGGAAATTATTATTTTTCAGTATTAGGTGTCTATGGGGTTGTTAACTACTTTATAACACTTGATAGCTCCTATTTCTACAGAGAAGTTTTCTCACTTTTCCTTTGAACTTTATACTTAAGTTTTAATGATGTTAATGTCACTACTGCTGCAGTGGTTTGGGATTAAAGAATTCTGTCAGAAGTTTCTGGATAATTGGTTGAACCTGGGAGGTCGAGGTTGCAGTGAGCCGAGGTTGTGCCATTGCACTCCGGCCTGGGCAACAAGAGCAAAACTTCGTCTCAAATAAT... | AAGGAGCCAGATGAAGCTACTAGTTCGTTAGGTGGAAATTATTATTTTTCAGTATTAGGTGTCTATGGGGTTGTTAACTACTTTATAACACTTGATAGCTCCTATTTCTACAGAGAAGTTTTCTCACTTTTCCTTTGAACTTTATACTTAAGTTTTAATGATGTTAATGTCACTACTGCTGCAGTGGTTTGGGATTAAAGAATTCTGTCAGAAGTTTCTGGATAATTGGTTGAACCTGGGAGGTCGAGGTTGCAGTGAGCCGAGGTTGTGCCATTGCACTCCGGCCTGGGCAACAAGAGCAAAACTTCGTCTCAAATAAT... |
Task1_train_24169 | This alteration in TMEM98 (transmembrane protein 98) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Nanophthalmos 4 | TTATGCAAATGACAGATTGAGCTTTACATATTATTTGGCAATTTGCCTTTTTAATATAGTAGTAATCTTGAACATCATTCCATATGTATGACTGTATTTTAAAAAACCATTGGAACTGAAACAAAACTAGAAAACAAAGTAGTCTCTGCAAAGACTGAACCTGAAGTCTTTGTGCCTAAGTGTCTGTCTGAGAATGCAGAAGCAATTGGAGAAAGAACCATTAAAGACCAGGTCTGGAATACCAAAAAAGAAGAACTGGAATAAAGATAGAAAGGAAGGAAGGGGCCAGGCGTGTGGCTCACGTGCCTGTAATCCCAGCA... | TTATGCAAATGACAGATTGAGCTTTACATATTATTTGGCAATTTGCCTTTTTAATATAGTAGTAATCTTGAACATCATTCCATATGTATGACTGTATTTTAAAAAACCATTGGAACTGAAACAAAACTAGAAAACAAAGTAGTCTCTGCAAAGACTGAACCTGAAGTCTTTGTGCCTAAGTGTCTGTCTGAGAATGCAGAAGCAATTGGAGAAAGAACCATTAAAGACCAGGTCTGGAATACCAAAAAAGAAGAACTGGAATAAAGATAGAAAGGAAGGAAGGGGCCAGGCGTGTGGCTCACGTGCCTGTAATCCCAGCA... |
Task1_train_24170 | This sequence change occurs on Chromosome 17, altering TMEM98 (transmembrane protein 98). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Nanophthalmos 4 | GACAGATTGAGCTTTACATATTATTTGGCAATTTGCCTTTTTAATATAGTAGTAATCTTGAACATCATTCCATATGTATGACTGTATTTTAAAAAACCATTGGAACTGAAACAAAACTAGAAAACAAAGTAGTCTCTGCAAAGACTGAACCTGAAGTCTTTGTGCCTAAGTGTCTGTCTGAGAATGCAGAAGCAATTGGAGAAAGAACCATTAAAGACCAGGTCTGGAATACCAAAAAAGAAGAACTGGAATAAAGATAGAAAGGAAGGAAGGGGCCAGGCGTGTGGCTCACGTGCCTGTAATCCCAGCACTATGGAAGG... | GACAGATTGAGCTTTACATATTATTTGGCAATTTGCCTTTTTAATATAGTAGTAATCTTGAACATCATTCCATATGTATGACTGTATTTTAAAAAACCATTGGAACTGAAACAAAACTAGAAAACAAAGTAGTCTCTGCAAAGACTGAACCTGAAGTCTTTGTGCCTAAGTGTCTGTCTGAGAATGCAGAAGCAATTGGAGAAAGAACCATTAAAGACCAGGTCTGGAATACCAAAAAAGAAGAACTGGAATAAAGATAGAAAGGAAGGAAGGGGCCAGGCGTGTGGCTCACGTGCCTGTAATCCCAGCACTATGGAAGG... |
Task1_train_24171 | Mutation context: Chromosome 17, Gene TMEM132E (transmembrane protein 132E). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hearing loss, autosomal recessive 99 | CAAGGCCAGGTAGGTAACTAACTCCCACACAGGCAGGATGGGAGGTCCCTTCAGAGAAGGACAAAGCTCTGAGGAAACCCCCAGGAGTTGAGGGCACATCTTGGAGGGCTTCATGAAGGAGGTGGCATTGAAGCTGGACCCTGGAGGAAGATTCAGATTTGGATATGCACAGATAGGAAAGGAGATAATCTAATGCAGAGGGTGCAGCATGAACAAAGGAGGGGAGATAAGGCAGCAGCCGTGAGTGTGAAGGTGAGTGAGTTGTCCAGTTACGCCACCAGCAGGGGATTGGGAGGAGTCCTAGGAGAAAAAGGATCCTG... | CAAGGCCAGGTAGGTAACTAACTCCCACACAGGCAGGATGGGAGGTCCCTTCAGAGAAGGACAAAGCTCTGAGGAAACCCCCAGGAGTTGAGGGCACATCTTGGAGGGCTTCATGAAGGAGGTGGCATTGAAGCTGGACCCTGGAGGAAGATTCAGATTTGGATATGCACAGATAGGAAAGGAGATAATCTAATGCAGAGGGTGCAGCATGAACAAAGGAGGGGAGATAAGGCAGCAGCCGTGAGTGTGAAGGTGAGTGAGTTGTCCAGTTACGCCACCAGCAGGGGATTGGGAGGAGTCCTAGGAGAAAAAGGATCCTG... |
Task1_train_24172 | This alteration occurs within gene TMEM132E (transmembrane protein 132E) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; TMEM132E-related disorder | TTGTGTACTGAGGGCCCCACTCCCGGCACACACGCTCCAGCTTCTCCAACTCCTAAAGGCTCCTGTCAGCCGTGAGCTCCCACCCCACCCCTGAGCTCCTTCCCAGGGACCTGCTTTGGCCCCAGGTCCCCCACAGCCCAGCCCACATGACACTCATCTGACTCAATGACCCAGTTTGCCACCTCCCCAAGAGGGCTCCAGATTCCCTCCTTCCCCTGGCTTTGAACAGTGGTCAGAAGTGAGTTGGGAAGAGGAGGCAGTAGAGTGGGCAGTGGTGTGAGCAGATGTCCAGCCCTGGTAACTGTGGGGTGGGCCAGCCA... | TTGTGTACTGAGGGCCCCACTCCCGGCACACACGCTCCAGCTTCTCCAACTCCTAAAGGCTCCTGTCAGCCGTGAGCTCCCACCCCACCCCTGAGCTCCTTCCCAGGGACCTGCTTTGGCCCCAGGTCCCCCACAGCCCAGCCCACATGACACTCATCTGACTCAATGACCCAGTTTGCCACCTCCCCAAGAGGGCTCCAGATTCCCTCCTTCCCCTGGCTTTGAACAGTGGTCAGAAGTGAGTTGGGAAGAGGAGGCAGTAGAGTGGGCAGTGGTGTGAGCAGATGTCCAGCCCTGGTAACTGTGGGGTGGGCCAGCCA... |
Task1_train_24173 | This alteration occurs within gene TMEM132E (transmembrane protein 132E) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Hearing loss, autosomal recessive 99 | ACAATTGGGTGTCTGGATAGAAATCATCTACCTAAGAAACTGTTGTGATCTGTGGGCTAGAATCTGCCTGCAGACATATCTTCTTTGTAAAACAATTGATCCAATGTGTTTTAAATTGGGAGATTTCTCATTTAAAAAATATATAGAGATTTCTGGTTTCACAAAAAATGAATCTGGTAACAATCAGCTAAAGCCAGTATTGGTGCCTCCTATACACGAGAATGAGTTCCCTCATTTTCTAAGTTGTCGCCACTCCCTTTTGTCTCCCTGACATTGAGGTTGCACATCAATTGCTACTAGTCACCATGCGGGGGTTGTTG... | ACAATTGGGTGTCTGGATAGAAATCATCTACCTAAGAAACTGTTGTGATCTGTGGGCTAGAATCTGCCTGCAGACATATCTTCTTTGTAAAACAATTGATCCAATGTGTTTTAAATTGGGAGATTTCTCATTTAAAAAATATATAGAGATTTCTGGTTTCACAAAAAATGAATCTGGTAACAATCAGCTAAAGCCAGTATTGGTGCCTCCTATACACGAGAATGAGTTCCCTCATTTTCTAAGTTGTCGCCACTCCCTTTTGTCTCCCTGACATTGAGGTTGCACATCAATTGCTACTAGTCACCATGCGGGGGTTGTTG... |
Task1_train_24174 | This alteration occurs within gene LIG3 (DNA ligase 3) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Mitochondrial DNA depletion syndrome 20 (mngie type) | CTTGTGAAAGTCTTTAGACAATAGAACACAACCCCTTCCCTACAGATGAGGATTTCTTCTGTGAGGACAGATTGCTGTCCAAAGCCATGGAGTCAAACAAAGGCAGTGGTTTTGTTTCCTTGTTCCTGTACCCCTTGGCAGGTTAGACGCCCTTGACCCCAATGCCTATGAAGCCTTCAAAGCCTCGCGCAACCTGCAGGATGTGGTGGAGCGGGTCCTTCACAACGCGCAGGAGGTGGAGAAGGAGCCGGGCCAGAGACGAGCTCTGAGCGTCCAGGCCTCGCTGATGACACCTGTGCAGCCCATGTTGGTGAGGAGTG... | CTTGTGAAAGTCTTTAGACAATAGAACACAACCCCTTCCCTACAGATGAGGATTTCTTCTGTGAGGACAGATTGCTGTCCAAAGCCATGGAGTCAAACAAAGGCAGTGGTTTTGTTTCCTTGTTCCTGTACCCCTTGGCAGGTTAGACGCCCTTGACCCCAATGCCTATGAAGCCTTCAAAGCCTCGCGCAACCTGCAGGATGTGGTGGAGCGGGTCCTTCACAACGCGCAGGAGGTGGAGAAGGAGCCGGGCCAGAGACGAGCTCTGAGCGTCCAGGCCTCGCTGATGACACCTGTGCAGCCCATGTTGGTGAGGAGTG... |
Task1_train_24175 | Gene LIG3 (DNA ligase 3) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Mitochondrial DNA depletion syndrome 20 (mngie type) | AGTCCCCAGCCTGATAGTCACACATCTTCTGCAGTAGGCACTAATCTCTGCCCACCTACCCTCCTCCTCCTCCCCCGACAGGTTTAATCTGTTTCTTCCATTTTCCTCAAAAATTGTACCTTCTCTACAGCCCATAGAAAGTGACCCAGCATGGGTTGACCTCTTCCTGGGCCCGGACAGAAGTACTGAAACAGATGGCCTCTCCCTCTTGTCCAGGTGGCTCGCAAGGCCTAGCTATATGTTTTGCACATTAGCTGGGCCTTCCACATGTTGTTCTATATCCTGTCTGGGCCCGGGCTTTGCCCTCCATGGCATGGTTT... | AGTCCCCAGCCTGATAGTCACACATCTTCTGCAGTAGGCACTAATCTCTGCCCACCTACCCTCCTCCTCCTCCCCCGACAGGTTTAATCTGTTTCTTCCATTTTCCTCAAAAATTGTACCTTCTCTACAGCCCATAGAAAGTGACCCAGCATGGGTTGACCTCTTCCTGGGCCCGGACAGAAGTACTGAAACAGATGGCCTCTCCCTCTTGTCCAGGTGGCTCGCAAGGCCTAGCTATATGTTTTGCACATTAGCTGGGCCTTCCACATGTTGTTCTATATCCTGTCTGGGCCCGGGCTTTGCCCTCCATGGCATGGTTT... |
Task1_train_24176 | This variant impacts the gene LIG3 (DNA ligase 3) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Mitochondrial DNA depletion syndrome 20 (mngie type) | GCAGTACCCTGGGGACAGCCAGTCTGACCAGGGAATAAGCTACCTTTGAGTAAAGGGCTTAGCTGATAACTCTTCACTCCCCTCTCACCTATGCTCATAGCAGAGAAAGCCCCTGGTCCTTCCCATTACTGCCCCTGACTTCAGGGAGCATTATCAGCAATCCCTACCCTCTTAGTTCTTTTGTATCATATGTTTTTTAGAGACAGGGTCTCACTCTGTCATCCAGGCTGGAGTGCAGTGGCACGACCATAGCTCACTGCAGCCTCGAACTCCTGAGTTGAATTGATCCTCCCGAGTAGCTGGGACTATAGGTGTGCACC... | GCAGTACCCTGGGGACAGCCAGTCTGACCAGGGAATAAGCTACCTTTGAGTAAAGGGCTTAGCTGATAACTCTTCACTCCCCTCTCACCTATGCTCATAGCAGAGAAAGCCCCTGGTCCTTCCCATTACTGCCCCTGACTTCAGGGAGCATTATCAGCAATCCCTACCCTCTTAGTTCTTTTGTATCATATGTTTTTTAGAGACAGGGTCTCACTCTGTCATCCAGGCTGGAGTGCAGTGGCACGACCATAGCTCACTGCAGCCTCGAACTCCTGAGTTGAATTGATCCTCCCGAGTAGCTGGGACTATAGGTGTGCACC... |
Task1_train_24177 | The gene LIG3 (DNA ligase 3), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Mitochondrial DNA depletion syndrome 20 (mngie type) | AAGCCCCTGGTCCTTCCCATTACTGCCCCTGACTTCAGGGAGCATTATCAGCAATCCCTACCCTCTTAGTTCTTTTGTATCATATGTTTTTTAGAGACAGGGTCTCACTCTGTCATCCAGGCTGGAGTGCAGTGGCACGACCATAGCTCACTGCAGCCTCGAACTCCTGAGTTGAATTGATCCTCCCGAGTAGCTGGGACTATAGGTGTGCACCACCACACCCAGCTTCCTCTCTGTCCTGCAGGCAACATGCAGACTGCAAAGCCTTCCGCTATGAAGGTGGGGGAGAAGCTGGCCACAAAGTCTTCTCCAGTGAAAGT... | AAGCCCCTGGTCCTTCCCATTACTGCCCCTGACTTCAGGGAGCATTATCAGCAATCCCTACCCTCTTAGTTCTTTTGTATCATATGTTTTTTAGAGACAGGGTCTCACTCTGTCATCCAGGCTGGAGTGCAGTGGCACGACCATAGCTCACTGCAGCCTCGAACTCCTGAGTTGAATTGATCCTCCCGAGTAGCTGGGACTATAGGTGTGCACCACCACACCCAGCTTCCTCTCTGTCCTGCAGGCAACATGCAGACTGCAAAGCCTTCCGCTATGAAGGTGGGGGAGAAGCTGGCCACAAAGTCTTCTCCAGTGAAAGT... |
Task1_train_24178 | A mutation found in UNC45B (unc-45 myosin chaperone B) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cataract 43 | TAGAGAGACCCTCATCTCTAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAATGAGTCAAGTGTGGTGGCACACCCCTGTAGTCTCAGCTACTTGGGAAGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGTCAAGGCTGCAATGAGCCTTGAATGCACTACTGCACTCCAGCCTGGGCAAGAGCGTGAGACCCCGTCTCAAATAAAATAAAATAATGTGAAAGCTATTCTCAACTCCCTGGATTTGCCAACTCCTTCTCTACCCCACGGCTTCTGCTCACCCTGACTTTGGTTCACTTAGGTCTTTTCAAGGCTTCTGT... | TAGAGAGACCCTCATCTCTAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAATGAGTCAAGTGTGGTGGCACACCCCTGTAGTCTCAGCTACTTGGGAAGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGTCAAGGCTGCAATGAGCCTTGAATGCACTACTGCACTCCAGCCTGGGCAAGAGCGTGAGACCCCGTCTCAAATAAAATAAAATAATGTGAAAGCTATTCTCAACTCCCTGGATTTGCCAACTCCTTCTCTACCCCACGGCTTCTGCTCACCCTGACTTTGGTTCACTTAGGTCTTTTCAAGGCTTCTGT... |
Task1_train_24179 | Here is a mutation in UNC45B (unc-45 myosin chaperone B) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Myofibrillar myopathy 11 | TAGAGAGACCCTCATCTCTAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAATGAGTCAAGTGTGGTGGCACACCCCTGTAGTCTCAGCTACTTGGGAAGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGTCAAGGCTGCAATGAGCCTTGAATGCACTACTGCACTCCAGCCTGGGCAAGAGCGTGAGACCCCGTCTCAAATAAAATAAAATAATGTGAAAGCTATTCTCAACTCCCTGGATTTGCCAACTCCTTCTCTACCCCACGGCTTCTGCTCACCCTGACTTTGGTTCACTTAGGTCTTTTCAAGGCTTCTGT... | TAGAGAGACCCTCATCTCTAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAATGAGTCAAGTGTGGTGGCACACCCCTGTAGTCTCAGCTACTTGGGAAGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGTCAAGGCTGCAATGAGCCTTGAATGCACTACTGCACTCCAGCCTGGGCAAGAGCGTGAGACCCCGTCTCAAATAAAATAAAATAATGTGAAAGCTATTCTCAACTCCCTGGATTTGCCAACTCCTTCTCTACCCCACGGCTTCTGCTCACCCTGACTTTGGTTCACTTAGGTCTTTTCAAGGCTTCTGT... |
Task1_train_24180 | This genomic variant is located on Chromosome 17, within the UNC45B (unc-45 myosin chaperone B) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Myofibrillar myopathy 11 | AACTAGTAGTACTATCCTCAGTTTACAGGAGCTGAGGCTCAGAGAGGTTCGCTGAATTGCCCAATATCACACAGCACATGAGTGGTGGAGCCAGGATGCAAATCCAAATCCTACTGCCTCCAAATCTCACACTCTTTCCACTCTCTTGGACCAGTTCTCTTGACCACCCTTGTCCTTTGTTTTAGGGGCAAGTTTGACCCCCAGGACATGGACAAGAACTTGAATGCCATCCAGACAGTGTCAGGGATCCTGCAGGGCCCCTTTGACCTGGGCAACCAGCTGCTGGGACTGAAAGGTGTGATGGAGATGATGGTGGCACT... | AACTAGTAGTACTATCCTCAGTTTACAGGAGCTGAGGCTCAGAGAGGTTCGCTGAATTGCCCAATATCACACAGCACATGAGTGGTGGAGCCAGGATGCAAATCCAAATCCTACTGCCTCCAAATCTCACACTCTTTCCACTCTCTTGGACCAGTTCTCTTGACCACCCTTGTCCTTTGTTTTAGGGGCAAGTTTGACCCCCAGGACATGGACAAGAACTTGAATGCCATCCAGACAGTGTCAGGGATCCTGCAGGGCCCCTTTGACCTGGGCAACCAGCTGCTGGGACTGAAAGGTGTGATGGAGATGATGGTGGCACT... |
Task1_train_24181 | This genomic variant is located on Chromosome 17, within the UNC45B (unc-45 myosin chaperone B) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Myofibrillar myopathy 11 | TGAGTGAATTTGGGGTTCTCCTGCAATATGTCTGGGGCAGGGAATCCATAGGAAGAGCTGGTGCTGGATGAGACAAAAGAGGAAGCCAGAGCCAGATCACGGAGGACCTGGGGCACATCCATTGAAGTTGAAAAGCTTCTCCTGGGTGGTTGCATCCCTAAATAGTGATAGTGGGGAGTGCTCTTTGCAGCCTCACTTGGCCTCACTTCCTTCCCAGCCAATTATTCCCATGATGTCATCTTCCCAAAGTGGTTAATTCTGGGGCACAGGCACACAAGTGGCACTTTCCATAGTCTCCCTTTTCATCCCAGGGTTTCACT... | TGAGTGAATTTGGGGTTCTCCTGCAATATGTCTGGGGCAGGGAATCCATAGGAAGAGCTGGTGCTGGATGAGACAAAAGAGGAAGCCAGAGCCAGATCACGGAGGACCTGGGGCACATCCATTGAAGTTGAAAAGCTTCTCCTGGGTGGTTGCATCCCTAAATAGTGATAGTGGGGAGTGCTCTTTGCAGCCTCACTTGGCCTCACTTCCTTCCCAGCCAATTATTCCCATGATGTCATCTTCCCAAAGTGGTTAATTCTGGGGCACAGGCACACAAGTGGCACTTTCCATAGTCTCCCTTTTCATCCCAGGGTTTCACT... |
Task1_train_24182 | An alteration has been detected in UNC45B (unc-45 myosin chaperone B) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; UNC45B-related disorder | TGAGTGAATTTGGGGTTCTCCTGCAATATGTCTGGGGCAGGGAATCCATAGGAAGAGCTGGTGCTGGATGAGACAAAAGAGGAAGCCAGAGCCAGATCACGGAGGACCTGGGGCACATCCATTGAAGTTGAAAAGCTTCTCCTGGGTGGTTGCATCCCTAAATAGTGATAGTGGGGAGTGCTCTTTGCAGCCTCACTTGGCCTCACTTCCTTCCCAGCCAATTATTCCCATGATGTCATCTTCCCAAAGTGGTTAATTCTGGGGCACAGGCACACAAGTGGCACTTTCCATAGTCTCCCTTTTCATCCCAGGGTTTCACT... | TGAGTGAATTTGGGGTTCTCCTGCAATATGTCTGGGGCAGGGAATCCATAGGAAGAGCTGGTGCTGGATGAGACAAAAGAGGAAGCCAGAGCCAGATCACGGAGGACCTGGGGCACATCCATTGAAGTTGAAAAGCTTCTCCTGGGTGGTTGCATCCCTAAATAGTGATAGTGGGGAGTGCTCTTTGCAGCCTCACTTGGCCTCACTTCCTTCCCAGCCAATTATTCCCATGATGTCATCTTCCCAAAGTGGTTAATTCTGGGGCACAGGCACACAAGTGGCACTTTCCATAGTCTCCCTTTTCATCCCAGGGTTTCACT... |
Task1_train_24183 | Given this variant in gene UNC45B (unc-45 myosin chaperone B) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Myofibrillar myopathy 11 | GCTTTTGGTGTTTTAGTCATGAAGTCTTTGCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGATCTTACATTTAAGTCTTTAATCCATCTTGAGTTAATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCTAGTTTTCCCAGCACTATTTATTAAATAGGGAATCCTTTCATCATTTCTTGTTTTTGTCAGGTTTGTCAAAGATCAGATGGTTGTAGATGTGTGGTGTTATTTCTGAGGCCTCTGTTCTGTTCCATTGGTCTATATA... | GCTTTTGGTGTTTTAGTCATGAAGTCTTTGCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGATCTTACATTTAAGTCTTTAATCCATCTTGAGTTAATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCTAGTTTTCCCAGCACTATTTATTAAATAGGGAATCCTTTCATCATTTCTTGTTTTTGTCAGGTTTGTCAAAGATCAGATGGTTGTAGATGTGTGGTGTTATTTCTGAGGCCTCTGTTCTGTTCCATTGGTCTATATA... |
Task1_train_24184 | This genomic variant is located on Chromosome 17, within the UNC45B (unc-45 myosin chaperone B) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cataract 43 | GGGCTAGCGTGAGACCCAGTCTGTTTACCCTCAACACCTGAACCTTAGACCTTCTCACTGTTATAGGGGAAAACCTAACCCATTAAAGCCGATTAAAGGCCAGGTATGGTGGCTCATGTCTGCAATCCCAACATTTTGGGAGGCTGAGGTGGATGCGTCACTTGAAGTCAGGAATTCGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAGTACAAACATTAGCCAGGCATGGTGGTGGGTGCTTGTAATCCCAGCTACTCGGGAGCCTGAGACATGAGAATCACTTGAACTTGGGAGGCAGAGGTTAC... | GGGCTAGCGTGAGACCCAGTCTGTTTACCCTCAACACCTGAACCTTAGACCTTCTCACTGTTATAGGGGAAAACCTAACCCATTAAAGCCGATTAAAGGCCAGGTATGGTGGCTCATGTCTGCAATCCCAACATTTTGGGAGGCTGAGGTGGATGCGTCACTTGAAGTCAGGAATTCGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAGTACAAACATTAGCCAGGCATGGTGGTGGGTGCTTGTAATCCCAGCTACTCGGGAGCCTGAGACATGAGAATCACTTGAACTTGGGAGGCAGAGGTTAC... |
Task1_train_24185 | Given this variant in gene SLFN14 (schlafen family member 14) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Platelet-type bleeding disorder 20 | GGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAATACAAAAAAATACAAAAATTAGCTGGGCGTGGTGGTGTGCCTGTAATCCCAGCTGCTCGGGAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCTGAGATCGTGCCGCTGCACTCCAGCCTAGGCGACAAAGCAAGACCCTGTCTCAAAAAAAAAAAAAAATGTTGTTACAGTTGTTTATGTCCCCATCTAAGGTTAGATGGAATCAAAAGTGGCAGGATCTTTAGGGGAGAGGAGAAGAGAAGTGAACTCAAACAAATTAA... | GGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAATACAAAAAAATACAAAAATTAGCTGGGCGTGGTGGTGTGCCTGTAATCCCAGCTGCTCGGGAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCTGAGATCGTGCCGCTGCACTCCAGCCTAGGCGACAAAGCAAGACCCTGTCTCAAAAAAAAAAAAAAATGTTGTTACAGTTGTTTATGTCCCCATCTAAGGTTAGATGGAATCAAAAGTGGCAGGATCTTTAGGGGAGAGGAGAAGAGAAGTGAACTCAAACAAATTAA... |
Task1_train_24186 | This is a variant in PEX12 (peroxisomal biogenesis factor 12), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Peroxisomal biogenesis disorder 3b | CACCTCACTGTTCACTTTATTTTTTATGCGGTCTAACCTGGGTTTTTCGTAAGAGCTCCTTTATTTCTTATATTTTAAGGAAAGGGATAGGCAAAAACTTGTGTACTCATTATTCTGTTTAATCTCTACACTGGCCCTCATATCCCCTGCCAGTCCTGATCCTTCTACTTTAAGCAGCTTGGTCAACTGTAAGTAGGGTTCTAGAGAGCAGGCTAAAAGGTTAGGATCAAATGGGCATATCCTTTTAAAGAAATCCATATAATCATTTAAAGTTCATATAGTTATGAATTGAGGCTGAGAAGTGTCAACTCAATACCATG... | CACCTCACTGTTCACTTTATTTTTTATGCGGTCTAACCTGGGTTTTTCGTAAGAGCTCCTTTATTTCTTATATTTTAAGGAAAGGGATAGGCAAAAACTTGTGTACTCATTATTCTGTTTAATCTCTACACTGGCCCTCATATCCCCTGCCAGTCCTGATCCTTCTACTTTAAGCAGCTTGGTCAACTGTAAGTAGGGTTCTAGAGAGCAGGCTAAAAGGTTAGGATCAAATGGGCATATCCTTTTAAAGAAATCCATATAATCATTTAAAGTTCATATAGTTATGAATTGAGGCTGAGAAGTGTCAACTCAATACCATG... |
Task1_train_24187 | A genetic alteration is present in GAS2L2 (growth arrest specific 2 like 2) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Primary ciliary dyskinesia 3 | GAGACTGGCTGTGACTGTGACTGTGGATGAGAGAAGGATGAACTCCACCTTCCCCTCTCCCCACTCAGCTTGCCTGGATGGGTCCAGGAGCAGGAAGCGGTTTGTTCCACTTTCCACCCACGCCTCTCTCCTCCTATCTCCACCAGGCATCTCAAACTCAGCTCCCACCCAGGCCCAACCAGGCATGCTGAGGACATGCTCTGGAGCCAACCACTAAGTCTGGAGTCCTGACTTATTACCAGCCGCATGACCTTGAGCTAGACCCTGAGCCTCAGTTTCCTCTTCTGTAAAATGGGGATGTAGTCTACTTCGTGGGGTTG... | GAGACTGGCTGTGACTGTGACTGTGGATGAGAGAAGGATGAACTCCACCTTCCCCTCTCCCCACTCAGCTTGCCTGGATGGGTCCAGGAGCAGGAAGCGGTTTGTTCCACTTTCCACCCACGCCTCTCTCCTCCTATCTCCACCAGGCATCTCAAACTCAGCTCCCACCCAGGCCCAACCAGGCATGCTGAGGACATGCTCTGGAGCCAACCACTAAGTCTGGAGTCCTGACTTATTACCAGCCGCATGACCTTGAGCTAGACCCTGAGCCTCAGTTTCCTCTTCTGTAAAATGGGGATGTAGTCTACTTCGTGGGGTTG... |
Task1_train_24188 | A variant found in Chromosome 17 affects MYO19, PIGW (myosin XIX| phosphatidylinositol glycan anchor biosynthesis class W). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hyperphosphatasia with intellectual disability syndrome 5 | AGCACGGTTTCCTGGGCCTTCGGGCGACACCAGGACTGGGGGTCTTTCAGTAGAGGTCGCCGCGGCGGAGTCTTGTGCGAGTGCGGCGGAGTGTTGTGCGAGGCCGGCGGACACCATTACCCTGATAGGGCCTCGCCGTGAGGTCTGAGGGGCCGTGTGAGGTGCATGGCGCGCCGTTTCCTCTCCAGGCGCTCCTCTCAGGGCTACGGCCCTAGAAGATCTGGCCTGCACCAGCCCAAAGGACATGACAGGAGTGGGTAGCCCACGGGACACTGGCACGAGCGCCATGATGGGCGGAGACGCGCGGAATCGGCCGGCCC... | AGCACGGTTTCCTGGGCCTTCGGGCGACACCAGGACTGGGGGTCTTTCAGTAGAGGTCGCCGCGGCGGAGTCTTGTGCGAGTGCGGCGGAGTGTTGTGCGAGGCCGGCGGACACCATTACCCTGATAGGGCCTCGCCGTGAGGTCTGAGGGGCCGTGTGAGGTGCATGGCGCGCCGTTTCCTCTCCAGGCGCTCCTCTCAGGGCTACGGCCCTAGAAGATCTGGCCTGCACCAGCCCAAAGGACATGACAGGAGTGGGTAGCCCACGGGACACTGGCACGAGCGCCATGATGGGCGGAGACGCGCGGAATCGGCCGGCCC... |
Task1_train_24189 | A sequence alteration has been identified in MYO19, PIGW (myosin XIX| phosphatidylinositol glycan anchor biosynthesis class W) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Hyperphosphatasia with intellectual disability syndrome 5 | GGCCGGCGGACACCATTACCCTGATAGGGCCTCGCCGTGAGGTCTGAGGGGCCGTGTGAGGTGCATGGCGCGCCGTTTCCTCTCCAGGCGCTCCTCTCAGGGCTACGGCCCTAGAAGATCTGGCCTGCACCAGCCCAAAGGACATGACAGGAGTGGGTAGCCCACGGGACACTGGCACGAGCGCCATGATGGGCGGAGACGCGCGGAATCGGCCGGCCCGGAAGTGCCAGCTGCCTGCGTCGGCCGGAAGTGCCGCGCGGGAGGCGGAAGCGGCTGGTTCCCGCGTGGTTTGGCGGGTGCAGCGGCAGTCCGGCTGCCCT... | GGCCGGCGGACACCATTACCCTGATAGGGCCTCGCCGTGAGGTCTGAGGGGCCGTGTGAGGTGCATGGCGCGCCGTTTCCTCTCCAGGCGCTCCTCTCAGGGCTACGGCCCTAGAAGATCTGGCCTGCACCAGCCCAAAGGACATGACAGGAGTGGGTAGCCCACGGGACACTGGCACGAGCGCCATGATGGGCGGAGACGCGCGGAATCGGCCGGCCCGGAAGTGCCAGCTGCCTGCGTCGGCCGGAAGTGCCGCGCGGGAGGCGGAAGCGGCTGGTTCCCGCGTGGTTTGGCGGGTGCAGCGGCAGTCCGGCTGCCCT... |
Task1_train_24190 | An alteration has been detected in MYO19, PIGW (myosin XIX| phosphatidylinositol glycan anchor biosynthesis class W) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hyperphosphatasia with intellectual disability syndrome 5 | GCCGTGAGGTCTGAGGGGCCGTGTGAGGTGCATGGCGCGCCGTTTCCTCTCCAGGCGCTCCTCTCAGGGCTACGGCCCTAGAAGATCTGGCCTGCACCAGCCCAAAGGACATGACAGGAGTGGGTAGCCCACGGGACACTGGCACGAGCGCCATGATGGGCGGAGACGCGCGGAATCGGCCGGCCCGGAAGTGCCAGCTGCCTGCGTCGGCCGGAAGTGCCGCGCGGGAGGCGGAAGCGGCTGGTTCCCGCGTGGTTTGGCGGGTGCAGCGGCAGTCCGGCTGCCCTTCCCACGTAGACCGTCTGCTGGGGGCGCCGGCA... | GCCGTGAGGTCTGAGGGGCCGTGTGAGGTGCATGGCGCGCCGTTTCCTCTCCAGGCGCTCCTCTCAGGGCTACGGCCCTAGAAGATCTGGCCTGCACCAGCCCAAAGGACATGACAGGAGTGGGTAGCCCACGGGACACTGGCACGAGCGCCATGATGGGCGGAGACGCGCGGAATCGGCCGGCCCGGAAGTGCCAGCTGCCTGCGTCGGCCGGAAGTGCCGCGCGGGAGGCGGAAGCGGCTGGTTCCCGCGTGGTTTGGCGGGTGCAGCGGCAGTCCGGCTGCCCTTCCCACGTAGACCGTCTGCTGGGGGCGCCGGCA... |
Task1_train_24191 | The following genetic variant occurs in MYO19, PIGW (myosin XIX| phosphatidylinositol glycan anchor biosynthesis class W) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | GCGTGGTTTGGCGGGTGCAGCGGCAGTCCGGCTGCCCTTCCCACGTAGACCGTCTGCTGGGGGCGCCGGCACCATTTGGAGTACGTGAGGTATACGGGTAGGGCGCGGCCAGGTCGGGCGTCTGTTAGGAAAAAGACTTTTTATTTTTATGTTTATTTTTTAAGAGACGGAGTCTCGCTCTGTCGCCCAGGTAGGAGTGCAGTGGCGCGATCTCGGCTCACTGCTGCCTTCCACCTCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTGGCATTACAGGCGCGCACCACCACGCTCAGCTAATTTTTAATTTTTCTTTTTT... | GCGTGGTTTGGCGGGTGCAGCGGCAGTCCGGCTGCCCTTCCCACGTAGACCGTCTGCTGGGGGCGCCGGCACCATTTGGAGTACGTGAGGTATACGGGTAGGGCGCGGCCAGGTCGGGCGTCTGTTAGGAAAAAGACTTTTTATTTTTATGTTTATTTTTTAAGAGACGGAGTCTCGCTCTGTCGCCCAGGTAGGAGTGCAGTGGCGCGATCTCGGCTCACTGCTGCCTTCCACCTCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTGGCATTACAGGCGCGCACCACCACGCTCAGCTAATTTTTAATTTTTCTTTTTT... |
Task1_train_24192 | This alteration occurs within gene MYO19, PIGW (myosin XIX| phosphatidylinositol glycan anchor biosynthesis class W) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Hyperphosphatasia with intellectual disability syndrome 5 | GTGGTTTGGCGGGTGCAGCGGCAGTCCGGCTGCCCTTCCCACGTAGACCGTCTGCTGGGGGCGCCGGCACCATTTGGAGTACGTGAGGTATACGGGTAGGGCGCGGCCAGGTCGGGCGTCTGTTAGGAAAAAGACTTTTTATTTTTATGTTTATTTTTTAAGAGACGGAGTCTCGCTCTGTCGCCCAGGTAGGAGTGCAGTGGCGCGATCTCGGCTCACTGCTGCCTTCCACCTCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTGGCATTACAGGCGCGCACCACCACGCTCAGCTAATTTTTAATTTTTCTTTTTTTT... | GTGGTTTGGCGGGTGCAGCGGCAGTCCGGCTGCCCTTCCCACGTAGACCGTCTGCTGGGGGCGCCGGCACCATTTGGAGTACGTGAGGTATACGGGTAGGGCGCGGCCAGGTCGGGCGTCTGTTAGGAAAAAGACTTTTTATTTTTATGTTTATTTTTTAAGAGACGGAGTCTCGCTCTGTCGCCCAGGTAGGAGTGCAGTGGCGCGATCTCGGCTCACTGCTGCCTTCCACCTCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTGGCATTACAGGCGCGCACCACCACGCTCAGCTAATTTTTAATTTTTCTTTTTTTT... |
Task1_train_24193 | A variant on Chromosome 17 in gene HNF1B (HNF1 homeobox B) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Renal cysts and diabetes syndrome | AGCAGGCCTGAGCTCTAGTCCTTGTTTTGCTACCATTGCTCTGTGTCACTTTGGCAAATCACTGCCTCTTTCTGGGCCTCAGTTCCTTTCTTCAAATTCCCTCCAAATTCTAACATTACAAGATTTTTAGAAAGATCCAGACTTCAGGGGCACCCCAGAGTATCCACTTCCCATGGGACACGCCCTTCCTAGACTCCAGTCAGAGGAGTACACAGGCTGTGTTTTCTGCCCTGCTCCCTGTCCCTCCAGCCCTAGCTCTCTGGGTCTCCTGTCAGCACACAGGATGCCTAAACCAACGACCCCGTGGTGACCTCAGCACA... | AGCAGGCCTGAGCTCTAGTCCTTGTTTTGCTACCATTGCTCTGTGTCACTTTGGCAAATCACTGCCTCTTTCTGGGCCTCAGTTCCTTTCTTCAAATTCCCTCCAAATTCTAACATTACAAGATTTTTAGAAAGATCCAGACTTCAGGGGCACCCCAGAGTATCCACTTCCCATGGGACACGCCCTTCCTAGACTCCAGTCAGAGGAGTACACAGGCTGTGTTTTCTGCCCTGCTCCCTGTCCCTCCAGCCCTAGCTCTCTGGGTCTCCTGTCAGCACACAGGATGCCTAAACCAACGACCCCGTGGTGACCTCAGCACA... |
Task1_train_24194 | This variant affects the gene HNF1B, LOC126862549 (HNF1 homeobox B| BRD4-independent group 4 enhancer GRCh37_chr17:36093401-36094600) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Renal cysts and diabetes syndrome | CTTGTTTGGAGGAGAGGAGCTGGGCTGGTGGTGGGGGGAGCCGTGGGAGAGCAGAGGGTTCAGGCTGTGAGTCTGGTTGGAGCTATAGGCGTCCATGGCCAGCTTTTGCCGGAATGCCTCCTCCTTCCTGCGGTTTGCAAACCAGTTGTAGACACGGACCTCAGTGACCAAGTTGGAGCCCAGGCCGTGGGCTTTGGAGGGGGACACCCCTCGCTGCAAACATTCTGCCCTGGGAATGGATGGAGGGGAGATGGTGAGTGAGGGGGGGCGGGGGGACTTGTTGGTGCTTGGCCAAAAACACACAATCACAGCAGTCTTGG... | CTTGTTTGGAGGAGAGGAGCTGGGCTGGTGGTGGGGGGAGCCGTGGGAGAGCAGAGGGTTCAGGCTGTGAGTCTGGTTGGAGCTATAGGCGTCCATGGCCAGCTTTTGCCGGAATGCCTCCTCCTTCCTGCGGTTTGCAAACCAGTTGTAGACACGGACCTCAGTGACCAAGTTGGAGCCCAGGCCGTGGGCTTTGGAGGGGGACACCCCTCGCTGCAAACATTCTGCCCTGGGAATGGATGGAGGGGAGATGGTGAGTGAGGGGGGGCGGGGGGACTTGTTGGTGCTTGGCCAAAAACACACAATCACAGCAGTCTTGG... |
Task1_train_24195 | The gene HNF1B, LOC126862549 (HNF1 homeobox B| BRD4-independent group 4 enhancer GRCh37_chr17:36093401-36094600) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Renal cysts and diabetes syndrome | TTGTTTGGAGGAGAGGAGCTGGGCTGGTGGTGGGGGGAGCCGTGGGAGAGCAGAGGGTTCAGGCTGTGAGTCTGGTTGGAGCTATAGGCGTCCATGGCCAGCTTTTGCCGGAATGCCTCCTCCTTCCTGCGGTTTGCAAACCAGTTGTAGACACGGACCTCAGTGACCAAGTTGGAGCCCAGGCCGTGGGCTTTGGAGGGGGACACCCCTCGCTGCAAACATTCTGCCCTGGGAATGGATGGAGGGGAGATGGTGAGTGAGGGGGGGCGGGGGGACTTGTTGGTGCTTGGCCAAAAACACACAATCACAGCAGTCTTGGT... | TTGTTTGGAGGAGAGGAGCTGGGCTGGTGGTGGGGGGAGCCGTGGGAGAGCAGAGGGTTCAGGCTGTGAGTCTGGTTGGAGCTATAGGCGTCCATGGCCAGCTTTTGCCGGAATGCCTCCTCCTTCCTGCGGTTTGCAAACCAGTTGTAGACACGGACCTCAGTGACCAAGTTGGAGCCCAGGCCGTGGGCTTTGGAGGGGGACACCCCTCGCTGCAAACATTCTGCCCTGGGAATGGATGGAGGGGAGATGGTGAGTGAGGGGGGGCGGGGGGACTTGTTGGTGCTTGGCCAAAAACACACAATCACAGCAGTCTTGGT... |
Task1_train_24196 | A variant was discovered on Chromosome 17, affecting HNF1B (HNF1 homeobox B). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Renal cysts and diabetes syndrome | TATTCCATAGCTTAGCGTAGTGTTTGGCACATAGTAGGTGCCTGTATAATAGTTACAGAAGGAAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGG... | TATTCCATAGCTTAGCGTAGTGTTTGGCACATAGTAGGTGCCTGTATAATAGTTACAGAAGGAAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGG... |
Task1_train_24197 | This sequence change occurs on Chromosome 17, altering HNF1B (HNF1 homeobox B). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Renal cysts and diabetes syndrome | TAGCGTAGTGTTTGGCACATAGTAGGTGCCTGTATAATAGTTACAGAAGGAAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGG... | TAGCGTAGTGTTTGGCACATAGTAGGTGCCTGTATAATAGTTACAGAAGGAAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGG... |
Task1_train_24198 | The variant affects gene HNF1B (HNF1 homeobox B), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; HNF1B-related disorder | TAGCGTAGTGTTTGGCACATAGTAGGTGCCTGTATAATAGTTACAGAAGGAAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGG... | TAGCGTAGTGTTTGGCACATAGTAGGTGCCTGTATAATAGTTACAGAAGGAAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGG... |
Task1_train_24199 | Gene HNF1B (HNF1 homeobox B), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Renal cysts and diabetes syndrome | CGTAGTGTTTGGCACATAGTAGGTGCCTGTATAATAGTTACAGAAGGAAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGG... | CGTAGTGTTTGGCACATAGTAGGTGCCTGTATAATAGTTACAGAAGGAAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGG... |
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