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_18500 | 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; RASopathy | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... |
Task1_train_18501 | 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 | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... |
Task1_train_18502 | 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; PTPN11-related disorder | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... |
Task1_train_18503 | 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; Cardiovascular phenotype | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... |
Task1_train_18504 | 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; Noonan syndrome 1 | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... |
Task1_train_18505 | 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; Male infertility with azoospermia or oligozoospermia due to single gene mutation | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... |
Task1_train_18506 | 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; Noonan syndrome and Noonan-related syndrome | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... |
Task1_train_18507 | 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; RASopathy | GTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCA... | GTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCA... |
Task1_train_18508 | 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 | GTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCA... | GTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCA... |
Task1_train_18509 | 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; Noonan syndrome and Noonan-related syndrome | GTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCA... | GTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCA... |
Task1_train_18510 | 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 1 | GTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCA... | GTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCA... |
Task1_train_18511 | 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 | GTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCA... | GTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCA... |
Task1_train_18512 | 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 | GTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCA... | GTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCA... |
Task1_train_18513 | 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; Metachondromatosis | GTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCA... | GTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCA... |
Task1_train_18514 | 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; Juvenile myelomonocytic leukemia | GTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCA... | GTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCA... |
Task1_train_18515 | 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; Noonan syndrome 3 | GTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCA... | GTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCA... |
Task1_train_18516 | 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 | AGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTAC... | AGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTAC... |
Task1_train_18517 | 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 | AGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTAC... | AGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTAC... |
Task1_train_18518 | Given this variant in gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Cardiovascular phenotype | AGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTAC... | AGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTAC... |
Task1_train_18519 | 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; PTPN11-related disorder | AGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTAC... | AGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTAC... |
Task1_train_18520 | 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; Noonan syndrome 1 | AGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTAC... | AGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTAC... |
Task1_train_18521 | 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 and Noonan-related syndrome | AGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTAC... | AGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTAC... |
Task1_train_18522 | 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; LEOPARD syndrome 1 | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... |
Task1_train_18523 | 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; RASopathy | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... |
Task1_train_18524 | 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; PTPN11-related disorder | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... |
Task1_train_18525 | 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 | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... |
Task1_train_18526 | 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; Noonan syndrome | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... |
Task1_train_18527 | 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; Metachondromatosis | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... |
Task1_train_18528 | 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 | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... |
Task1_train_18529 | Consider a variant on Chromosome 12 in gene PTPN11 (protein tyrosine phosphatase non-receptor type 11). Determine its clinical classification and disease relevance. | Pathogenic; Cardiovascular phenotype | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... |
Task1_train_18530 | 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 | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... |
Task1_train_18531 | 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; LEOPARD syndrome 1 | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... |
Task1_train_18532 | 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 1 | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... |
Task1_train_18533 | 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; LEOPARD syndrome 1 | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... |
Task1_train_18534 | 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; Metachondromatosis | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... |
Task1_train_18535 | 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; Juvenile myelomonocytic leukemia | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... |
Task1_train_18536 | 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; RASopathy | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... |
Task1_train_18537 | 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 3 | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... |
Task1_train_18538 | 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 1 | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... |
Task1_train_18539 | 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; Cardiovascular phenotype | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... |
Task1_train_18540 | 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 | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... |
Task1_train_18541 | 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; Juvenile myelomonocytic leukemia | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... | TGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCT... |
Task1_train_18542 | Consider a variant on Chromosome 12 in gene PTPN11 (protein tyrosine phosphatase non-receptor type 11). Determine its clinical classification and disease relevance. | Pathogenic; Short stature | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... |
Task1_train_18543 | This mutation occurs in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Abnormal cardiovascular system morphology | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... |
Task1_train_18544 | 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; LEOPARD syndrome 1 | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... |
Task1_train_18545 | 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 and Noonan-related syndrome | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... |
Task1_train_18546 | 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; Noonan syndrome 1 | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... |
Task1_train_18547 | 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 | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... |
Task1_train_18548 | 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; LEOPARD syndrome 1 | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... |
Task1_train_18549 | 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; Metachondromatosis | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... |
Task1_train_18550 | 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 | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... |
Task1_train_18551 | 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; Metachondromatosis | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... |
Task1_train_18552 | 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; Non-immune hydrops fetalis | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... |
Task1_train_18553 | This mutation occurs in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; RASopathy | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... |
Task1_train_18554 | 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; Juvenile myelomonocytic leukemia | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... |
Task1_train_18555 | 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; Noonan syndrome | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... |
Task1_train_18556 | 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; RASopathy | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... | GATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTA... |
Task1_train_18557 | 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; RASopathy | TTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAA... | TTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAA... |
Task1_train_18558 | 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; Noonan syndrome | CATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTT... | CATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTT... |
Task1_train_18559 | 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; RASopathy | AGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCAT... | AGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCAT... |
Task1_train_18560 | 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; RASopathy | GTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTT... | GTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTT... |
Task1_train_18561 | 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 | TGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTT... | TGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTT... |
Task1_train_18562 | 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 | GATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAAT... | GATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAAT... |
Task1_train_18563 | 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 | GATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAAT... | GATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAAT... |
Task1_train_18564 | 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 1 | GATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAAT... | GATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAAT... |
Task1_train_18565 | 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; Juvenile myelomonocytic leukemia | GATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAAT... | GATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAAT... |
Task1_train_18566 | 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; LEOPARD syndrome 1 | GATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAAT... | GATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAAT... |
Task1_train_18567 | 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; Noonan syndrome 1 | GATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAAT... | GATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAAT... |
Task1_train_18568 | 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 | GATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAAT... | GATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAAT... |
Task1_train_18569 | 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 | GATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAAT... | GATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAAT... |
Task1_train_18570 | 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; RASopathy | GATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAAT... | GATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAAT... |
Task1_train_18571 | 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; Noonan syndrome and Noonan-related syndrome | GATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAAT... | GATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAAT... |
Task1_train_18572 | Here is a genetic alteration in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; RASopathy | TGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGC... | TGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGC... |
Task1_train_18573 | 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 | TGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGC... | TGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGC... |
Task1_train_18574 | 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 and Noonan-related syndrome | TGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGC... | TGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGC... |
Task1_train_18575 | 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; not provided | GGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCA... | GGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCA... |
Task1_train_18576 | 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; RASopathy | GGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCA... | GGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCA... |
Task1_train_18577 | Here is a genetic alteration in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Noonan syndrome and Noonan-related syndrome | GGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCA... | GGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCA... |
Task1_train_18578 | 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 | GTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCAT... | GTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCAT... |
Task1_train_18579 | 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 | GTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCAT... | GTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCAT... |
Task1_train_18580 | 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; Noonan syndrome 1 | GTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCAT... | GTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCAT... |
Task1_train_18581 | Given this variant in gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Cardiovascular phenotype | GTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCAT... | GTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCAT... |
Task1_train_18582 | 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 | GTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCAT... | GTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCAT... |
Task1_train_18583 | 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; Metachondromatosis | GTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCAT... | GTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCAT... |
Task1_train_18584 | 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; Juvenile myelomonocytic leukemia | GTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCAT... | GTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCAT... |
Task1_train_18585 | 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 | GTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCAT... | GTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCAT... |
Task1_train_18586 | 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; Noonan syndrome | GTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCAT... | GTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCAT... |
Task1_train_18587 | 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; RASopathy | GTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCAT... | GTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCAT... |
Task1_train_18588 | 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 and Noonan-related syndrome | GTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCAT... | GTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCAT... |
Task1_train_18589 | Consider this mutation in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is this a benign change or a disease-causing variant? | Pathogenic; PTPN11-related disorder | TACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCAT... | TACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCAT... |
Task1_train_18590 | 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; Cardiovascular phenotype | TACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCAT... | TACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCAT... |
Task1_train_18591 | 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 | TACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCAT... | TACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCAT... |
Task1_train_18592 | 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; Noonan syndrome and Noonan-related syndrome | TACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCAT... | TACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCAT... |
Task1_train_18593 | 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; Noonan syndrome 3 | TACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCAT... | TACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCAT... |
Task1_train_18594 | 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; Metachondromatosis | TACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCAT... | TACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCAT... |
Task1_train_18595 | 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; LEOPARD syndrome 1 | TACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCAT... | TACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCAT... |
Task1_train_18596 | 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; Juvenile myelomonocytic leukemia | TACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCAT... | TACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCAT... |
Task1_train_18597 | 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 1 | TACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCAT... | TACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCAT... |
Task1_train_18598 | 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 1 | TACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCAT... | TACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCAT... |
Task1_train_18599 | 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; RASopathy | TACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCAT... | TACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCAT... |
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