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_18700 | This variant affects gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) located on Chromosome 12. Evaluate its biological effect and specify any disease association. | Pathogenic; Noonan syndrome | GGGTGTGGTGGAAATAGGCCTGACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAG... | GGGTGTGGTGGAAATAGGCCTGACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAG... |
Task1_train_18701 | Gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Noonan syndrome and Noonan-related syndrome | GGGTGTGGTGGAAATAGGCCTGACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAG... | GGGTGTGGTGGAAATAGGCCTGACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAG... |
Task1_train_18702 | The gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Noonan syndrome | GACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTG... | GACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTG... |
Task1_train_18703 | Here is a variant affecting PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Noonan syndrome with multiple lentigines | GACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTG... | GACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTG... |
Task1_train_18704 | This mutation is located in gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Metachondromatosis | GACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTG... | GACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTG... |
Task1_train_18705 | Gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; LEOPARD syndrome 1 | GACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTG... | GACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTG... |
Task1_train_18706 | A genetic alteration is present in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Metachondromatosis | GACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTG... | GACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTG... |
Task1_train_18707 | An alteration has been detected in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Juvenile myelomonocytic leukemia | GACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTG... | GACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTG... |
Task1_train_18708 | The variant affects gene PTPN11 (protein tyrosine phosphatase non-receptor type 11), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; LEOPARD syndrome 1 | GACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTG... | GACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTG... |
Task1_train_18709 | The gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Noonan syndrome 1 | GACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTG... | GACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTG... |
Task1_train_18710 | Here’s a variant in PTPN11 (protein tyrosine phosphatase non-receptor type 11) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; RASopathy | GACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTG... | GACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTG... |
Task1_train_18711 | A sequence alteration has been identified in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Cardiovascular phenotype | GACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTG... | GACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTG... |
Task1_train_18712 | Chromosome 12 houses a mutation in gene PTPN11 (protein tyrosine phosphatase non-receptor type 11). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Noonan syndrome 1 | GACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTG... | GACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTG... |
Task1_train_18713 | The variant affects gene PTPN11 (protein tyrosine phosphatase non-receptor type 11), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Noonan syndrome and Noonan-related syndrome | GACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTG... | GACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTG... |
Task1_train_18714 | This alteration occurs within gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) located on Chromosome 12. Is it associated with a disease or is it a benign variant? | Pathogenic; Cafe-au-lait spot | ACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGG... | ACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGG... |
Task1_train_18715 | Given this context: Chromosome 12, gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Specific learning disability | ACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGG... | ACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGG... |
Task1_train_18716 | The gene PTPN11 (protein tyrosine phosphatase non-receptor type 11), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Abnormal facial shape | ACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGG... | ACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGG... |
Task1_train_18717 | Here is a variant affecting PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Scoliosis | ACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGG... | ACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGG... |
Task1_train_18718 | The following genetic variant occurs in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Intellectual disability, mild | ACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGG... | ACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGG... |
Task1_train_18719 | This is a variant in PTPN11 (protein tyrosine phosphatase non-receptor type 11), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; Noonan syndrome | ACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGG... | ACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGG... |
Task1_train_18720 | The gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Noonan syndrome with multiple lentigines | ACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGG... | ACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGG... |
Task1_train_18721 | This gene mutation involves PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; RASopathy | ACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGG... | ACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGG... |
Task1_train_18722 | The gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; LEOPARD syndrome 1 | ACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGG... | ACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGG... |
Task1_train_18723 | Located on Chromosome 12, this mutation impacts PTPN11 (protein tyrosine phosphatase non-receptor type 11). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Noonan syndrome 1 | ACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGG... | ACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGG... |
Task1_train_18724 | This alteration occurs within gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) located on Chromosome 12. Is it associated with a disease or is it a benign variant? | Pathogenic; Noonan syndrome and Noonan-related syndrome | ACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGG... | ACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGG... |
Task1_train_18725 | A genetic alteration is present in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Noonan syndrome | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... |
Task1_train_18726 | A mutation on Chromosome 12 affecting PTPN11 (protein tyrosine phosphatase non-receptor type 11) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Cardiovascular phenotype | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... |
Task1_train_18727 | This variant impacts the gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Juvenile myelomonocytic leukemia | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... |
Task1_train_18728 | The variant affects gene PTPN11 (protein tyrosine phosphatase non-receptor type 11), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Metachondromatosis | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... |
Task1_train_18729 | A variant on Chromosome 12 in gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; LEOPARD syndrome 1 | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... |
Task1_train_18730 | A mutation found in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Noonan syndrome 1 | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... |
Task1_train_18731 | A variant has been detected on Chromosome 12 in PTPN11 (protein tyrosine phosphatase non-receptor type 11). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Noonan syndrome 1 | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... |
Task1_train_18732 | A variant affecting Chromosome 12, within the gene PTPN11 (protein tyrosine phosphatase non-receptor type 11), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Epicanthus | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... |
Task1_train_18733 | The gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Depressed nasal ridge | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... |
Task1_train_18734 | The gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Abnormal pinna morphology | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... |
Task1_train_18735 | Located on Chromosome 12, this mutation impacts PTPN11 (protein tyrosine phosphatase non-receptor type 11). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Wide nasal bridge | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... |
Task1_train_18736 | The following genetic variant occurs in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Short stature | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... |
Task1_train_18737 | A change on Chromosome 12 affects gene PTPN11 (protein tyrosine phosphatase non-receptor type 11). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Abnormal cardiovascular system morphology | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... |
Task1_train_18738 | Given this context: Chromosome 12, gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Microcephaly | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... |
Task1_train_18739 | With a mutation on Chromosome 12 in gene PTPN11 (protein tyrosine phosphatase non-receptor type 11), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; RASopathy | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... | GATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGG... |
Task1_train_18740 | This sequence change occurs on Chromosome 12, altering PTPN11 (protein tyrosine phosphatase non-receptor type 11). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; RASopathy | TCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTC... | TCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTC... |
Task1_train_18741 | Mutation context: Chromosome 12, Gene PTPN11 (protein tyrosine phosphatase non-receptor type 11). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Noonan syndrome 1 | TCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTC... | TCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTC... |
Task1_train_18742 | A variant found in Chromosome 12 affects PTPN11 (protein tyrosine phosphatase non-receptor type 11). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Noonan syndrome 1 | TCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTC... | TCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTC... |
Task1_train_18743 | The variant affects gene PTPN11 (protein tyrosine phosphatase non-receptor type 11), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Juvenile myelomonocytic leukemia | TCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTC... | TCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTC... |
Task1_train_18744 | A mutation in PTPN11 (protein tyrosine phosphatase non-receptor type 11), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; LEOPARD syndrome 1 | TCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTC... | TCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTC... |
Task1_train_18745 | This alteration in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Metachondromatosis | TCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTC... | TCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTC... |
Task1_train_18746 | The gene PTPN11 (protein tyrosine phosphatase non-receptor type 11), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Cardiovascular phenotype | TCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTC... | TCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTC... |
Task1_train_18747 | Here is a variant affecting PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Noonan syndrome | TCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTC... | TCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTC... |
Task1_train_18748 | This variant affects gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) located on Chromosome 12. Evaluate its biological effect and specify any disease association. | Pathogenic; RASopathy | TCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTC... | TCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTC... |
Task1_train_18749 | A genetic alteration is present in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Noonan syndrome | TCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTC... | TCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTC... |
Task1_train_18750 | This gene mutation involves PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; Juvenile myelomonocytic leukemia | TCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTC... | TCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTC... |
Task1_train_18751 | This gene mutation involves PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; Noonan syndrome | CCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCT... | CCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCT... |
Task1_train_18752 | The gene PTPN11 (protein tyrosine phosphatase non-receptor type 11), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; RASopathy | CCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCT... | CCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCT... |
Task1_train_18753 | This mutation is located in gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Noonan syndrome 1 | CCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCT... | CCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCT... |
Task1_train_18754 | This variant affects gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) located on Chromosome 12. Evaluate its biological effect and specify any disease association. | Pathogenic; Noonan syndrome and Noonan-related syndrome | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... |
Task1_train_18755 | The variant affects gene PTPN11 (protein tyrosine phosphatase non-receptor type 11), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Cardiovascular phenotype | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... |
Task1_train_18756 | A variant was discovered in gene PTPN11 (protein tyrosine phosphatase non-receptor type 11), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; LEOPARD syndrome 1 | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... |
Task1_train_18757 | Gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; RASopathy | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... |
Task1_train_18758 | Given this context: Chromosome 12, gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Metachondromatosis | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... |
Task1_train_18759 | Gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Noonan syndrome 1 | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... |
Task1_train_18760 | This sequence change occurs on Chromosome 12, altering PTPN11 (protein tyrosine phosphatase non-receptor type 11). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Noonan syndrome | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... |
Task1_train_18761 | A variant has been detected on Chromosome 12 in PTPN11 (protein tyrosine phosphatase non-receptor type 11). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Juvenile myelomonocytic leukemia | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... |
Task1_train_18762 | Gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Juvenile myelomonocytic leukemia | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... |
Task1_train_18763 | The gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Metachondromatosis | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... |
Task1_train_18764 | Gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; LEOPARD syndrome 1 | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... |
Task1_train_18765 | This genomic variant is located on Chromosome 12, within the PTPN11 (protein tyrosine phosphatase non-receptor type 11) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Noonan syndrome 1 | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... |
Task1_train_18766 | This alteration in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Cardiovascular phenotype | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... |
Task1_train_18767 | This variant impacts the gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Neurodevelopmental disorder | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... |
Task1_train_18768 | A variant on Chromosome 12 in gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Juvenile myelomonocytic leukemia | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... |
Task1_train_18769 | This is a variant in PTPN11 (protein tyrosine phosphatase non-receptor type 11), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; Metachondromatosis | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... |
Task1_train_18770 | This genomic variant is located on Chromosome 12, within the PTPN11 (protein tyrosine phosphatase non-receptor type 11) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; LEOPARD syndrome 1 | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... |
Task1_train_18771 | This mutation is located in gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Noonan syndrome 1 | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... |
Task1_train_18772 | This sequence variant lies in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Noonan syndrome | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... |
Task1_train_18773 | This variant lies on Chromosome 12 and affects the gene PTPN11 (protein tyrosine phosphatase non-receptor type 11). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Juvenile myelomonocytic leukemia | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... |
Task1_train_18774 | This variant affects the gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Noonan syndrome 1 | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... |
Task1_train_18775 | This sequence variant lies in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; RASopathy | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... | CTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCG... |
Task1_train_18776 | A sequence alteration has been identified in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; RASopathy | TTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGA... | TTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGA... |
Task1_train_18777 | A genetic alteration is present in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Noonan syndrome | AAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAAC... | AAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAAC... |
Task1_train_18778 | A genomic change on Chromosome 12 affects PTPN11 (protein tyrosine phosphatase non-receptor type 11). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Noonan syndrome with multiple lentigines | TTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGAC... | TTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGAC... |
Task1_train_18779 | This variant impacts the gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; RASopathy | TTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGAC... | TTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGAC... |
Task1_train_18780 | This variant impacts the gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Noonan syndrome | TTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGAC... | TTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGAC... |
Task1_train_18781 | Consider a variant on Chromosome 12 in gene PTPN11 (protein tyrosine phosphatase non-receptor type 11). Determine its clinical classification and disease relevance. | Pathogenic; Noonan syndrome 1 | TTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGAC... | TTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGAC... |
Task1_train_18782 | The gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; PTPN11-related disorder | TTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGAC... | TTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGAC... |
Task1_train_18783 | Gene PTPN11 (protein tyrosine phosphatase non-receptor type 11), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Cardiovascular phenotype | TTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGAC... | TTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGAC... |
Task1_train_18784 | A sequence alteration has been identified in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Noonan syndrome 1 | TCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGACCTCAGGTGATC... | TCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGACCTCAGGTGATC... |
Task1_train_18785 | Here is a mutation in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Noonan syndrome | TCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGACCTCAGGTGATC... | TCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGACCTCAGGTGATC... |
Task1_train_18786 | A sequence alteration has been identified in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Noonan syndrome with multiple lentigines | TCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGACCTCAGGTGATC... | TCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGACCTCAGGTGATC... |
Task1_train_18787 | A change on Chromosome 12 affects gene PTPN11 (protein tyrosine phosphatase non-receptor type 11). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; See cases | TCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGACCTCAGGTGATC... | TCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGACCTCAGGTGATC... |
Task1_train_18788 | This variant impacts the gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; RASopathy | TCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGACCTCAGGTGATC... | TCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGACCTCAGGTGATC... |
Task1_train_18789 | Mutation context: Chromosome 12, Gene PTPN11 (protein tyrosine phosphatase non-receptor type 11). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; PTPN11-related disorder | TCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGACCTCAGGTGATC... | TCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGACCTCAGGTGATC... |
Task1_train_18790 | The gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Cardiovascular phenotype | TCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGACCTCAGGTGATC... | TCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGACCTCAGGTGATC... |
Task1_train_18791 | Given a variant located on Chromosome 12 and affecting PTPN11 (protein tyrosine phosphatase non-receptor type 11), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Noonan syndrome 3 | TCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGACCTCAGGTGATC... | TCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGACCTCAGGTGATC... |
Task1_train_18792 | This gene mutation involves PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; Noonan syndrome with multiple lentigines | CTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGACCTCAGGTGATCC... | CTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGACCTCAGGTGATCC... |
Task1_train_18793 | A change on Chromosome 12 affects gene PTPN11 (protein tyrosine phosphatase non-receptor type 11). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; RASopathy | TCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGACCTCAGGTGATCCA... | TCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGACCTCAGGTGATCCA... |
Task1_train_18794 | A sequence alteration has been identified in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Noonan syndrome 1 | TCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGACCTCAGGTGATCCA... | TCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGACCTCAGGTGATCCA... |
Task1_train_18795 | The gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; PTPN11-related disorder | TCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGACCTCAGGTGATCCA... | TCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGACCTCAGGTGATCCA... |
Task1_train_18796 | This mutation is located in gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not specified | TCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGACCTCAGGTGATCCA... | TCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAGAGACAAGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACCCTTGACCTCAGGTGATCCA... |
Task1_train_18797 | A variant was discovered on Chromosome 12, affecting RPH3A (rabphilin 3A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | ATGGAAGATGTTTCACACACCGTCCTAGGTGTGCTGCTCTGTTCTGACCCACAGGGCCAGGAGAAAGGCCAGAGGTCTTGGGGAAGTTGTAGGTAGATCACCCTCTTCACAACAACCAGTGTAGTGGAGAGCATGCCACATTTAAGAGATGGAAGACTTGGAGTTGAGCCCTTGTTTTTCCATTCTCTAGCTGTGTACTATTGGACCAGTCCTTAAGATTTTGGATATTCCCCTTTCTCCATCCAAACTCCACTTTCTTCATGGGTAAACTGAAGCCCTTTCTACTGAGTTTTCAGGGTGGATGGGCTGAATAAATATGA... | ATGGAAGATGTTTCACACACCGTCCTAGGTGTGCTGCTCTGTTCTGACCCACAGGGCCAGGAGAAAGGCCAGAGGTCTTGGGGAAGTTGTAGGTAGATCACCCTCTTCACAACAACCAGTGTAGTGGAGAGCATGCCACATTTAAGAGATGGAAGACTTGGAGTTGAGCCCTTGTTTTTCCATTCTCTAGCTGTGTACTATTGGACCAGTCCTTAAGATTTTGGATATTCCCCTTTCTCCATCCAAACTCCACTTTCTTCATGGGTAAACTGAAGCCCTTTCTACTGAGTTTTCAGGGTGGATGGGCTGAATAAATATGA... |
Task1_train_18798 | This variant affects the gene OAS1 (2'-5'-oligoadenylate synthetase 1) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Pulmonary alveolar proteinosis with hypogammaglobulinemia | CATTTGAAAAAAATCTGGAAAGCTCTATATCAAAACGTTTATAGAGGCAATTTTGTAGTGTTAGAATCATAGATGATCTTTCCACTTCCTGGTTTTTCTGACTTTTTTTCTTTTTGCAGTGGGCATGTATTGCTGGAAAATACCACAGACAACTGTGAAAGGATTTCATCAACAACAAAAAAAAGATAAAGAAGGAAACACAAAATCTGTTAAATAAGATTTATGTTGGCTGGAGGTTAAAATGCATTTCCAGAGCAGAGTTCAGAGAAAGGCTGGGCTGCTTGTTGCTGGCTAAAGGACAAAGGGTAAGTTTCAGGAAG... | CATTTGAAAAAAATCTGGAAAGCTCTATATCAAAACGTTTATAGAGGCAATTTTGTAGTGTTAGAATCATAGATGATCTTTCCACTTCCTGGTTTTTCTGACTTTTTTTCTTTTTGCAGTGGGCATGTATTGCTGGAAAATACCACAGACAACTGTGAAAGGATTTCATCAACAACAAAAAAAAGATAAAGAAGGAAACACAAAATCTGTTAAATAAGATTTATGTTGGCTGGAGGTTAAAATGCATTTCCAGAGCAGAGTTCAGAGAAAGGCTGGGCTGCTTGTTGCTGGCTAAAGGACAAAGGGTAAGTTTCAGGAAG... |
Task1_train_18799 | A genomic change on Chromosome 12 affects OAS1 (2'-5'-oligoadenylate synthetase 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Pulmonary alveolar proteinosis with hypogammaglobulinemia | GAAAATACCACAGACAACTGTGAAAGGATTTCATCAACAACAAAAAAAAGATAAAGAAGGAAACACAAAATCTGTTAAATAAGATTTATGTTGGCTGGAGGTTAAAATGCATTTCCAGAGCAGAGTTCAGAGAAAGGCTGGGCTGCTTGTTGCTGGCTAAAGGACAAAGGGTAAGTTTCAGGAAGCAGAAGAGTGAGCAGATGAAATTCAGCACTGGGATCAGGGGAGTGTCTGATTTGCAAAAGGAAAGTGCAAAGACAGCTCCTCCCTTCTGAGGAAACGAAACCAACAGCAGTCCAAGCTCAGTCAGCAGAAGAGAT... | GAAAATACCACAGACAACTGTGAAAGGATTTCATCAACAACAAAAAAAAGATAAAGAAGGAAACACAAAATCTGTTAAATAAGATTTATGTTGGCTGGAGGTTAAAATGCATTTCCAGAGCAGAGTTCAGAGAAAGGCTGGGCTGCTTGTTGCTGGCTAAAGGACAAAGGGTAAGTTTCAGGAAGCAGAAGAGTGAGCAGATGAAATTCAGCACTGGGATCAGGGGAGTGTCTGATTTGCAAAAGGAAAGTGCAAAGACAGCTCCTCCCTTCTGAGGAAACGAAACCAACAGCAGTCCAAGCTCAGTCAGCAGAAGAGAT... |
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