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_18600 | 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 | TCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCATGTGAATATTTTATAACTTCTATATACTGTCACCAGCAGGTAGCGATTTAGTTGTGTCTAATATTTTAAAATGATATATAAT... | TCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCATGTGAATATTTTATAACTTCTATATACTGTCACCAGCAGGTAGCGATTTAGTTGTGTCTAATATTTTAAAATGATATATAAT... |
Task1_train_18601 | 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; Noonan syndrome 1 | TCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCATGTGAATATTTTATAACTTCTATATACTGTCACCAGCAGGTAGCGATTTAGTTGTGTCTAATATTTTAAAATGATATATAAT... | TCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCATGTGAATATTTTATAACTTCTATATACTGTCACCAGCAGGTAGCGATTTAGTTGTGTCTAATATTTTAAAATGATATATAAT... |
Task1_train_18602 | 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 | TCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCATGTGAATATTTTATAACTTCTATATACTGTCACCAGCAGGTAGCGATTTAGTTGTGTCTAATATTTTAAAATGATATATAAT... | TCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCATGTGAATATTTTATAACTTCTATATACTGTCACCAGCAGGTAGCGATTTAGTTGTGTCTAATATTTTAAAATGATATATAAT... |
Task1_train_18603 | 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 and Noonan-related syndrome | TCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCATGTGAATATTTTATAACTTCTATATACTGTCACCAGCAGGTAGCGATTTAGTTGTGTCTAATATTTTAAAATGATATATAAT... | TCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAGCTGGATCGCATTCTATCATGTGAATATTTTATAACTTCTATATACTGTCACCAGCAGGTAGCGATTTAGTTGTGTCTAATATTTTAAAATGATATATAAT... |
Task1_train_18604 | 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 | TTATGTGCTGATAATTTGTTTCTCTAGCTACCACCGTAGCTTCAGGCAAAAGGCTGTCAGCCAACTCTGTACAGTTTATTTCTAAATTTTACTGTTTTCAGTTGAGTATGGATGAAGAATAACTCAAAGTTTATTCTTTTGATGATGAGCCCTTAACACCACCTGCCATGATAGTACTTGCTTTCTGACCAAGATCCTGAGGGAAAAAGCCACTTTATTATTAGAACTATGTTAAGATGCTTCCCAAAAAACATGGAGCAGTATTGTCTCAAAGTCTGTCCTTGGATGGCTTTGGATGCCTACATCAGGACTGTCTGATG... | TTATGTGCTGATAATTTGTTTCTCTAGCTACCACCGTAGCTTCAGGCAAAAGGCTGTCAGCCAACTCTGTACAGTTTATTTCTAAATTTTACTGTTTTCAGTTGAGTATGGATGAAGAATAACTCAAAGTTTATTCTTTTGATGATGAGCCCTTAACACCACCTGCCATGATAGTACTTGCTTTCTGACCAAGATCCTGAGGGAAAAAGCCACTTTATTATTAGAACTATGTTAAGATGCTTCCCAAAAAACATGGAGCAGTATTGTCTCAAAGTCTGTCCTTGGATGGCTTTGGATGCCTACATCAGGACTGTCTGATG... |
Task1_train_18605 | 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; Inborn genetic diseases | TTATGTGCTGATAATTTGTTTCTCTAGCTACCACCGTAGCTTCAGGCAAAAGGCTGTCAGCCAACTCTGTACAGTTTATTTCTAAATTTTACTGTTTTCAGTTGAGTATGGATGAAGAATAACTCAAAGTTTATTCTTTTGATGATGAGCCCTTAACACCACCTGCCATGATAGTACTTGCTTTCTGACCAAGATCCTGAGGGAAAAAGCCACTTTATTATTAGAACTATGTTAAGATGCTTCCCAAAAAACATGGAGCAGTATTGTCTCAAAGTCTGTCCTTGGATGGCTTTGGATGCCTACATCAGGACTGTCTGATG... | TTATGTGCTGATAATTTGTTTCTCTAGCTACCACCGTAGCTTCAGGCAAAAGGCTGTCAGCCAACTCTGTACAGTTTATTTCTAAATTTTACTGTTTTCAGTTGAGTATGGATGAAGAATAACTCAAAGTTTATTCTTTTGATGATGAGCCCTTAACACCACCTGCCATGATAGTACTTGCTTTCTGACCAAGATCCTGAGGGAAAAAGCCACTTTATTATTAGAACTATGTTAAGATGCTTCCCAAAAAACATGGAGCAGTATTGTCTCAAAGTCTGTCCTTGGATGGCTTTGGATGCCTACATCAGGACTGTCTGATG... |
Task1_train_18606 | 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; RASopathy | TTATGTGCTGATAATTTGTTTCTCTAGCTACCACCGTAGCTTCAGGCAAAAGGCTGTCAGCCAACTCTGTACAGTTTATTTCTAAATTTTACTGTTTTCAGTTGAGTATGGATGAAGAATAACTCAAAGTTTATTCTTTTGATGATGAGCCCTTAACACCACCTGCCATGATAGTACTTGCTTTCTGACCAAGATCCTGAGGGAAAAAGCCACTTTATTATTAGAACTATGTTAAGATGCTTCCCAAAAAACATGGAGCAGTATTGTCTCAAAGTCTGTCCTTGGATGGCTTTGGATGCCTACATCAGGACTGTCTGATG... | TTATGTGCTGATAATTTGTTTCTCTAGCTACCACCGTAGCTTCAGGCAAAAGGCTGTCAGCCAACTCTGTACAGTTTATTTCTAAATTTTACTGTTTTCAGTTGAGTATGGATGAAGAATAACTCAAAGTTTATTCTTTTGATGATGAGCCCTTAACACCACCTGCCATGATAGTACTTGCTTTCTGACCAAGATCCTGAGGGAAAAAGCCACTTTATTATTAGAACTATGTTAAGATGCTTCCCAAAAAACATGGAGCAGTATTGTCTCAAAGTCTGTCCTTGGATGGCTTTGGATGCCTACATCAGGACTGTCTGATG... |
Task1_train_18607 | 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 | TTATGTGCTGATAATTTGTTTCTCTAGCTACCACCGTAGCTTCAGGCAAAAGGCTGTCAGCCAACTCTGTACAGTTTATTTCTAAATTTTACTGTTTTCAGTTGAGTATGGATGAAGAATAACTCAAAGTTTATTCTTTTGATGATGAGCCCTTAACACCACCTGCCATGATAGTACTTGCTTTCTGACCAAGATCCTGAGGGAAAAAGCCACTTTATTATTAGAACTATGTTAAGATGCTTCCCAAAAAACATGGAGCAGTATTGTCTCAAAGTCTGTCCTTGGATGGCTTTGGATGCCTACATCAGGACTGTCTGATG... | TTATGTGCTGATAATTTGTTTCTCTAGCTACCACCGTAGCTTCAGGCAAAAGGCTGTCAGCCAACTCTGTACAGTTTATTTCTAAATTTTACTGTTTTCAGTTGAGTATGGATGAAGAATAACTCAAAGTTTATTCTTTTGATGATGAGCCCTTAACACCACCTGCCATGATAGTACTTGCTTTCTGACCAAGATCCTGAGGGAAAAAGCCACTTTATTATTAGAACTATGTTAAGATGCTTCCCAAAAAACATGGAGCAGTATTGTCTCAAAGTCTGTCCTTGGATGGCTTTGGATGCCTACATCAGGACTGTCTGATG... |
Task1_train_18608 | 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 | TTATGTGCTGATAATTTGTTTCTCTAGCTACCACCGTAGCTTCAGGCAAAAGGCTGTCAGCCAACTCTGTACAGTTTATTTCTAAATTTTACTGTTTTCAGTTGAGTATGGATGAAGAATAACTCAAAGTTTATTCTTTTGATGATGAGCCCTTAACACCACCTGCCATGATAGTACTTGCTTTCTGACCAAGATCCTGAGGGAAAAAGCCACTTTATTATTAGAACTATGTTAAGATGCTTCCCAAAAAACATGGAGCAGTATTGTCTCAAAGTCTGTCCTTGGATGGCTTTGGATGCCTACATCAGGACTGTCTGATG... | TTATGTGCTGATAATTTGTTTCTCTAGCTACCACCGTAGCTTCAGGCAAAAGGCTGTCAGCCAACTCTGTACAGTTTATTTCTAAATTTTACTGTTTTCAGTTGAGTATGGATGAAGAATAACTCAAAGTTTATTCTTTTGATGATGAGCCCTTAACACCACCTGCCATGATAGTACTTGCTTTCTGACCAAGATCCTGAGGGAAAAAGCCACTTTATTATTAGAACTATGTTAAGATGCTTCCCAAAAAACATGGAGCAGTATTGTCTCAAAGTCTGTCCTTGGATGGCTTTGGATGCCTACATCAGGACTGTCTGATG... |
Task1_train_18609 | 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 1 | TTATGTGCTGATAATTTGTTTCTCTAGCTACCACCGTAGCTTCAGGCAAAAGGCTGTCAGCCAACTCTGTACAGTTTATTTCTAAATTTTACTGTTTTCAGTTGAGTATGGATGAAGAATAACTCAAAGTTTATTCTTTTGATGATGAGCCCTTAACACCACCTGCCATGATAGTACTTGCTTTCTGACCAAGATCCTGAGGGAAAAAGCCACTTTATTATTAGAACTATGTTAAGATGCTTCCCAAAAAACATGGAGCAGTATTGTCTCAAAGTCTGTCCTTGGATGGCTTTGGATGCCTACATCAGGACTGTCTGATG... | TTATGTGCTGATAATTTGTTTCTCTAGCTACCACCGTAGCTTCAGGCAAAAGGCTGTCAGCCAACTCTGTACAGTTTATTTCTAAATTTTACTGTTTTCAGTTGAGTATGGATGAAGAATAACTCAAAGTTTATTCTTTTGATGATGAGCCCTTAACACCACCTGCCATGATAGTACTTGCTTTCTGACCAAGATCCTGAGGGAAAAAGCCACTTTATTATTAGAACTATGTTAAGATGCTTCCCAAAAAACATGGAGCAGTATTGTCTCAAAGTCTGTCCTTGGATGGCTTTGGATGCCTACATCAGGACTGTCTGATG... |
Task1_train_18610 | 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; Juvenile myelomonocytic leukemia | TTACAGATGTGAACTACTGTGCCTGATCCAAAGTCAGATTTTCTTTGCTTACTTAGTCAAGTTCGTCTATGCTTTTATTATACTTAATATATTAGTATAGTTACTGTATTAGTATATTAGCATATTTAATATATTATTATACTTATCATACTTGAGTATATTGAGTATATTTACACTTTTAGTATATTTGTATACACACACCACATTTTTATTATTTATCTTTTTTTTGAGACAGAGTCTCCCTCTGTCTCCCAGGCTGAAGCACAGTTGGCTCACTGCAACCTCTGCCTCTTGGGCTCAAGTGATTCTCGTGCCTCACC... | TTACAGATGTGAACTACTGTGCCTGATCCAAAGTCAGATTTTCTTTGCTTACTTAGTCAAGTTCGTCTATGCTTTTATTATACTTAATATATTAGTATAGTTACTGTATTAGTATATTAGCATATTTAATATATTATTATACTTATCATACTTGAGTATATTGAGTATATTTACACTTTTAGTATATTTGTATACACACACCACATTTTTATTATTTATCTTTTTTTTGAGACAGAGTCTCCCTCTGTCTCCCAGGCTGAAGCACAGTTGGCTCACTGCAACCTCTGCCTCTTGGGCTCAAGTGATTCTCGTGCCTCACC... |
Task1_train_18611 | 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; Metachondromatosis | TTACAGATGTGAACTACTGTGCCTGATCCAAAGTCAGATTTTCTTTGCTTACTTAGTCAAGTTCGTCTATGCTTTTATTATACTTAATATATTAGTATAGTTACTGTATTAGTATATTAGCATATTTAATATATTATTATACTTATCATACTTGAGTATATTGAGTATATTTACACTTTTAGTATATTTGTATACACACACCACATTTTTATTATTTATCTTTTTTTTGAGACAGAGTCTCCCTCTGTCTCCCAGGCTGAAGCACAGTTGGCTCACTGCAACCTCTGCCTCTTGGGCTCAAGTGATTCTCGTGCCTCACC... | TTACAGATGTGAACTACTGTGCCTGATCCAAAGTCAGATTTTCTTTGCTTACTTAGTCAAGTTCGTCTATGCTTTTATTATACTTAATATATTAGTATAGTTACTGTATTAGTATATTAGCATATTTAATATATTATTATACTTATCATACTTGAGTATATTGAGTATATTTACACTTTTAGTATATTTGTATACACACACCACATTTTTATTATTTATCTTTTTTTTGAGACAGAGTCTCCCTCTGTCTCCCAGGCTGAAGCACAGTTGGCTCACTGCAACCTCTGCCTCTTGGGCTCAAGTGATTCTCGTGCCTCACC... |
Task1_train_18612 | 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 1 | TTACAGATGTGAACTACTGTGCCTGATCCAAAGTCAGATTTTCTTTGCTTACTTAGTCAAGTTCGTCTATGCTTTTATTATACTTAATATATTAGTATAGTTACTGTATTAGTATATTAGCATATTTAATATATTATTATACTTATCATACTTGAGTATATTGAGTATATTTACACTTTTAGTATATTTGTATACACACACCACATTTTTATTATTTATCTTTTTTTTGAGACAGAGTCTCCCTCTGTCTCCCAGGCTGAAGCACAGTTGGCTCACTGCAACCTCTGCCTCTTGGGCTCAAGTGATTCTCGTGCCTCACC... | TTACAGATGTGAACTACTGTGCCTGATCCAAAGTCAGATTTTCTTTGCTTACTTAGTCAAGTTCGTCTATGCTTTTATTATACTTAATATATTAGTATAGTTACTGTATTAGTATATTAGCATATTTAATATATTATTATACTTATCATACTTGAGTATATTGAGTATATTTACACTTTTAGTATATTTGTATACACACACCACATTTTTATTATTTATCTTTTTTTTGAGACAGAGTCTCCCTCTGTCTCCCAGGCTGAAGCACAGTTGGCTCACTGCAACCTCTGCCTCTTGGGCTCAAGTGATTCTCGTGCCTCACC... |
Task1_train_18613 | 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; LEOPARD syndrome 1 | TTACAGATGTGAACTACTGTGCCTGATCCAAAGTCAGATTTTCTTTGCTTACTTAGTCAAGTTCGTCTATGCTTTTATTATACTTAATATATTAGTATAGTTACTGTATTAGTATATTAGCATATTTAATATATTATTATACTTATCATACTTGAGTATATTGAGTATATTTACACTTTTAGTATATTTGTATACACACACCACATTTTTATTATTTATCTTTTTTTTGAGACAGAGTCTCCCTCTGTCTCCCAGGCTGAAGCACAGTTGGCTCACTGCAACCTCTGCCTCTTGGGCTCAAGTGATTCTCGTGCCTCACC... | TTACAGATGTGAACTACTGTGCCTGATCCAAAGTCAGATTTTCTTTGCTTACTTAGTCAAGTTCGTCTATGCTTTTATTATACTTAATATATTAGTATAGTTACTGTATTAGTATATTAGCATATTTAATATATTATTATACTTATCATACTTGAGTATATTGAGTATATTTACACTTTTAGTATATTTGTATACACACACCACATTTTTATTATTTATCTTTTTTTTGAGACAGAGTCTCCCTCTGTCTCCCAGGCTGAAGCACAGTTGGCTCACTGCAACCTCTGCCTCTTGGGCTCAAGTGATTCTCGTGCCTCACC... |
Task1_train_18614 | 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; RASopathy | TTACAGATGTGAACTACTGTGCCTGATCCAAAGTCAGATTTTCTTTGCTTACTTAGTCAAGTTCGTCTATGCTTTTATTATACTTAATATATTAGTATAGTTACTGTATTAGTATATTAGCATATTTAATATATTATTATACTTATCATACTTGAGTATATTGAGTATATTTACACTTTTAGTATATTTGTATACACACACCACATTTTTATTATTTATCTTTTTTTTGAGACAGAGTCTCCCTCTGTCTCCCAGGCTGAAGCACAGTTGGCTCACTGCAACCTCTGCCTCTTGGGCTCAAGTGATTCTCGTGCCTCACC... | TTACAGATGTGAACTACTGTGCCTGATCCAAAGTCAGATTTTCTTTGCTTACTTAGTCAAGTTCGTCTATGCTTTTATTATACTTAATATATTAGTATAGTTACTGTATTAGTATATTAGCATATTTAATATATTATTATACTTATCATACTTGAGTATATTGAGTATATTTACACTTTTAGTATATTTGTATACACACACCACATTTTTATTATTTATCTTTTTTTTGAGACAGAGTCTCCCTCTGTCTCCCAGGCTGAAGCACAGTTGGCTCACTGCAACCTCTGCCTCTTGGGCTCAAGTGATTCTCGTGCCTCACC... |
Task1_train_18615 | 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; RASopathy | CTGGCTCACAGTCCAAGGAAATGCTTGCCCAGAGAGGGCAAACTGCCTTAACTCCTTAACCTGAGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGAC... | CTGGCTCACAGTCCAAGGAAATGCTTGCCCAGAGAGGGCAAACTGCCTTAACTCCTTAACCTGAGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGAC... |
Task1_train_18616 | 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; RASopathy | CTCACAGTCCAAGGAAATGCTTGCCCAGAGAGGGCAAACTGCCTTAACTCCTTAACCTGAGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTT... | CTCACAGTCCAAGGAAATGCTTGCCCAGAGAGGGCAAACTGCCTTAACTCCTTAACCTGAGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTT... |
Task1_train_18617 | 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 | CAAGGAAATGCTTGCCCAGAGAGGGCAAACTGCCTTAACTCCTTAACCTGAGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAG... | CAAGGAAATGCTTGCCCAGAGAGGGCAAACTGCCTTAACTCCTTAACCTGAGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAG... |
Task1_train_18618 | 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; RASopathy | TTAACCTGAGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTA... | TTAACCTGAGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTA... |
Task1_train_18619 | 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; LEOPARD syndrome 1 | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... |
Task1_train_18620 | 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 | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... |
Task1_train_18621 | 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; Noonan syndrome and Noonan-related syndrome | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... |
Task1_train_18622 | 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 | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... |
Task1_train_18623 | 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 | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... |
Task1_train_18624 | 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; PTPN11-related disorder | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... |
Task1_train_18625 | 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; Neurodevelopmental abnormality | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... |
Task1_train_18626 | 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; RASopathy | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... |
Task1_train_18627 | 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 1 | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... |
Task1_train_18628 | 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; Juvenile myelomonocytic leukemia | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... |
Task1_train_18629 | 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 | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... |
Task1_train_18630 | 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 | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... |
Task1_train_18631 | 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 1 | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... |
Task1_train_18632 | 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 | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... |
Task1_train_18633 | 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 with multiple lentigines | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... | AGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTAC... |
Task1_train_18634 | 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; not provided | GCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTACT... | GCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTACT... |
Task1_train_18635 | 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; not provided | AAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTACTTTCTTGAT... | AAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTACTTTCTTGAT... |
Task1_train_18636 | 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; Noonan syndrome 1 | AAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTACTTTCTTGAT... | AAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTACTTTCTTGAT... |
Task1_train_18637 | 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 | AAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTACTTTCTTGAT... | AAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTACTTTCTTGAT... |
Task1_train_18638 | 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 | AAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTACTTTCTTGAT... | AAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTACTTTCTTGAT... |
Task1_train_18639 | 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 | AAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTACTTTCTTGAT... | AAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTACTTTCTTGAT... |
Task1_train_18640 | 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 | AAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTACTTTCTTGAT... | AAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTACTTTCTTGAT... |
Task1_train_18641 | 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; RASopathy | AAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTACTTTCTTGAT... | AAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTACTTTCTTGAT... |
Task1_train_18642 | 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 | AAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTACTTTCTTGAT... | AAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTACTTTCTTGAT... |
Task1_train_18643 | 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; Juvenile myelomonocytic leukemia | AAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTACTTTCTTGAT... | AAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTACTTTCTTGAT... |
Task1_train_18644 | 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 | AAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTACTTTCTTGAT... | AAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTACTTTCTTGAT... |
Task1_train_18645 | 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; LEOPARD syndrome 1 | AAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTACTTTCTTGAT... | AAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTACTTTCTTGAT... |
Task1_train_18646 | 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 | AAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTACTTTCTTGAT... | AAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGACTGTGTTTTTCCTTGTAGGACTCTTTGAGGGTAGCCATTTTGGCATTTTATATATAAATTTTCTTTTCTTAGCCTACCTTTTACTTTCTTGAT... |
Task1_train_18647 | 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 | GTGCATATGTGTATACATTTCAGCATAGAAAAACTGTGTGATTGGGGGTTGTGATCAAATTTGGAGAGCATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATG... | GTGCATATGTGTATACATTTCAGCATAGAAAAACTGTGTGATTGGGGGTTGTGATCAAATTTGGAGAGCATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATG... |
Task1_train_18648 | 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 | GTGCATATGTGTATACATTTCAGCATAGAAAAACTGTGTGATTGGGGGTTGTGATCAAATTTGGAGAGCATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATG... | GTGCATATGTGTATACATTTCAGCATAGAAAAACTGTGTGATTGGGGGTTGTGATCAAATTTGGAGAGCATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATG... |
Task1_train_18649 | 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; Metachondromatosis | GTGCATATGTGTATACATTTCAGCATAGAAAAACTGTGTGATTGGGGGTTGTGATCAAATTTGGAGAGCATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATG... | GTGCATATGTGTATACATTTCAGCATAGAAAAACTGTGTGATTGGGGGTTGTGATCAAATTTGGAGAGCATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATG... |
Task1_train_18650 | 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 and Noonan-related syndrome | GTGCATATGTGTATACATTTCAGCATAGAAAAACTGTGTGATTGGGGGTTGTGATCAAATTTGGAGAGCATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATG... | GTGCATATGTGTATACATTTCAGCATAGAAAAACTGTGTGATTGGGGGTTGTGATCAAATTTGGAGAGCATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATG... |
Task1_train_18651 | 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 1 | GTGCATATGTGTATACATTTCAGCATAGAAAAACTGTGTGATTGGGGGTTGTGATCAAATTTGGAGAGCATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATG... | GTGCATATGTGTATACATTTCAGCATAGAAAAACTGTGTGATTGGGGGTTGTGATCAAATTTGGAGAGCATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATG... |
Task1_train_18652 | 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; Non-immune hydrops fetalis | GTGCATATGTGTATACATTTCAGCATAGAAAAACTGTGTGATTGGGGGTTGTGATCAAATTTGGAGAGCATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATG... | GTGCATATGTGTATACATTTCAGCATAGAAAAACTGTGTGATTGGGGGTTGTGATCAAATTTGGAGAGCATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATG... |
Task1_train_18653 | 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; RASopathy | GTGCATATGTGTATACATTTCAGCATAGAAAAACTGTGTGATTGGGGGTTGTGATCAAATTTGGAGAGCATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATG... | GTGCATATGTGTATACATTTCAGCATAGAAAAACTGTGTGATTGGGGGTTGTGATCAAATTTGGAGAGCATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATG... |
Task1_train_18654 | 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; LEOPARD syndrome 1 | GTGCATATGTGTATACATTTCAGCATAGAAAAACTGTGTGATTGGGGGTTGTGATCAAATTTGGAGAGCATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATG... | GTGCATATGTGTATACATTTCAGCATAGAAAAACTGTGTGATTGGGGGTTGTGATCAAATTTGGAGAGCATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATG... |
Task1_train_18655 | 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; not provided | TGCATATGTGTATACATTTCAGCATAGAAAAACTGTGTGATTGGGGGTTGTGATCAAATTTGGAGAGCATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGG... | TGCATATGTGTATACATTTCAGCATAGAAAAACTGTGTGATTGGGGGTTGTGATCAAATTTGGAGAGCATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGG... |
Task1_train_18656 | 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; Noonan syndrome 1 | TGCATATGTGTATACATTTCAGCATAGAAAAACTGTGTGATTGGGGGTTGTGATCAAATTTGGAGAGCATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGG... | TGCATATGTGTATACATTTCAGCATAGAAAAACTGTGTGATTGGGGGTTGTGATCAAATTTGGAGAGCATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGG... |
Task1_train_18657 | 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; RASopathy | TGCATATGTGTATACATTTCAGCATAGAAAAACTGTGTGATTGGGGGTTGTGATCAAATTTGGAGAGCATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGG... | TGCATATGTGTATACATTTCAGCATAGAAAAACTGTGTGATTGGGGGTTGTGATCAAATTTGGAGAGCATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGG... |
Task1_train_18658 | 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; Noonan syndrome | TGCATATGTGTATACATTTCAGCATAGAAAAACTGTGTGATTGGGGGTTGTGATCAAATTTGGAGAGCATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGG... | TGCATATGTGTATACATTTCAGCATAGAAAAACTGTGTGATTGGGGGTTGTGATCAAATTTGGAGAGCATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGG... |
Task1_train_18659 | 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 3 | TGCATATGTGTATACATTTCAGCATAGAAAAACTGTGTGATTGGGGGTTGTGATCAAATTTGGAGAGCATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGG... | TGCATATGTGTATACATTTCAGCATAGAAAAACTGTGTGATTGGGGGTTGTGATCAAATTTGGAGAGCATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGG... |
Task1_train_18660 | 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 | CATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAG... | CATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAG... |
Task1_train_18661 | 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; PTPN11-related disorder | ATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAGA... | ATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAGA... |
Task1_train_18662 | 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 | ATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAGA... | ATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAGA... |
Task1_train_18663 | 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 | ATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAGA... | ATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAGA... |
Task1_train_18664 | 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; Noonan syndrome | ATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAGA... | ATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAGA... |
Task1_train_18665 | 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; LEOPARD syndrome 1 | ATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAGA... | ATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAGA... |
Task1_train_18666 | 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; RASopathy | ATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAGA... | ATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAGA... |
Task1_train_18667 | 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 and Noonan-related syndrome | ATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAGA... | ATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAGA... |
Task1_train_18668 | 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; Noonan syndrome 3 | ATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAGA... | ATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAGA... |
Task1_train_18669 | 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 | ATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAGA... | ATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAGA... |
Task1_train_18670 | 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; Metachondromatosis | ATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAGA... | ATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAGA... |
Task1_train_18671 | 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; LEOPARD syndrome 1 | ATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAGA... | ATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAGA... |
Task1_train_18672 | 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; Juvenile myelomonocytic leukemia | ATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAGA... | ATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAGA... |
Task1_train_18673 | 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 1 | ATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAGA... | ATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAGA... |
Task1_train_18674 | 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; Neoplasm | ATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAGA... | ATTGCTCTCATGTCTTATCAGGTCAGAGTCATTTTGTCAAATCTTGTAAACCATTCTTTGTGTGTGTCTATGCATGAAACATAGTCTTTCTCTTTCTGCATGCATATGTACATATACATGGTATATATGTATATCATATCTACATGGATATTGTAATGTATATGTATGAGGATGGGGGAAAGTGGAGACATTTGTAATACTGAGAAAAGGCAGTGAGGAATTTGCAGAGAAGCAGTTTGAGCTGTAGCATGGTACTAGTGACCTTGAGGAAGCCTTATCCTTTTTTTTTGGAATTTATTTTTTCAATTTTTAGAAATAGA... |
Task1_train_18675 | 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 | AGGAAAGCTTAGAACCGGGTGATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCT... | AGGAAAGCTTAGAACCGGGTGATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCT... |
Task1_train_18676 | 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; not specified | AGGAAAGCTTAGAACCGGGTGATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCT... | AGGAAAGCTTAGAACCGGGTGATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCT... |
Task1_train_18677 | 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; PTPN11-related disorder | AGGAAAGCTTAGAACCGGGTGATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCT... | AGGAAAGCTTAGAACCGGGTGATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCT... |
Task1_train_18678 | 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 | AGGAAAGCTTAGAACCGGGTGATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCT... | AGGAAAGCTTAGAACCGGGTGATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCT... |
Task1_train_18679 | 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 | AGGAAAGCTTAGAACCGGGTGATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCT... | AGGAAAGCTTAGAACCGGGTGATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCT... |
Task1_train_18680 | 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 with multiple lentigines | AGGAAAGCTTAGAACCGGGTGATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCT... | AGGAAAGCTTAGAACCGGGTGATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCT... |
Task1_train_18681 | 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; LEOPARD syndrome 1 | AGGAAAGCTTAGAACCGGGTGATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCT... | AGGAAAGCTTAGAACCGGGTGATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCT... |
Task1_train_18682 | Assess the clinical impact of this variant on gene PTPN11 (protein tyrosine phosphatase non-receptor type 11), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; RASopathy | AGGAAAGCTTAGAACCGGGTGATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCT... | AGGAAAGCTTAGAACCGGGTGATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCT... |
Task1_train_18683 | 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; Noonan syndrome | AGAACCGGGTGATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCTCTTTAACTGT... | AGAACCGGGTGATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCTCTTTAACTGT... |
Task1_train_18684 | 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; Noonan syndrome with multiple lentigines | AGAACCGGGTGATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCTCTTTAACTGT... | AGAACCGGGTGATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCTCTTTAACTGT... |
Task1_train_18685 | 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 and Noonan-related syndrome | AGAACCGGGTGATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCTCTTTAACTGT... | AGAACCGGGTGATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCTCTTTAACTGT... |
Task1_train_18686 | 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; Cardiovascular phenotype | AGAACCGGGTGATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCTCTTTAACTGT... | AGAACCGGGTGATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCTCTTTAACTGT... |
Task1_train_18687 | 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; Noonan syndrome 1 | AGAACCGGGTGATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCTCTTTAACTGT... | AGAACCGGGTGATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCTCTTTAACTGT... |
Task1_train_18688 | 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 | AGAACCGGGTGATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCTCTTTAACTGT... | AGAACCGGGTGATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCTCTTTAACTGT... |
Task1_train_18689 | A variant was discovered on Chromosome 12, affecting PTPN11 (protein tyrosine phosphatase non-receptor type 11). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Noonan syndrome and Noonan-related syndrome | ATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCTCTTTAACTGTAGGAAGAATTT... | ATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCTCTTTAACTGTAGGAAGAATTT... |
Task1_train_18690 | 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 | ATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCTCTTTAACTGTAGGAAGAATTT... | ATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCTCTTTAACTGTAGGAAGAATTT... |
Task1_train_18691 | 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 | ATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCTCTTTAACTGTAGGAAGAATTT... | ATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCTCTTTAACTGTAGGAAGAATTT... |
Task1_train_18692 | 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 with multiple lentigines | ATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCTCTTTAACTGTAGGAAGAATTT... | ATTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCTCTTTAACTGTAGGAAGAATTT... |
Task1_train_18693 | 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 with multiple lentigines | TTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCTCTTTAACTGTAGGAAGAATTTA... | TTCCTCAACCTCTTGATTTATTTAATTCTTTTCTGGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGGTGACAGCTCCTGCTGCCCCTCTAGGCCACAGCCTGTCCCTGTCTCCTAGCGCCCAGGGCTTGCTTTTACCTACCCACTCCTAGCTCTTTAACTGTAGGAAGAATTTA... |
Task1_train_18694 | 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 | GGGTGTGGTGGAAATAGGCCTGACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAG... | GGGTGTGGTGGAAATAGGCCTGACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAG... |
Task1_train_18695 | 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; Metachondromatosis | GGGTGTGGTGGAAATAGGCCTGACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAG... | GGGTGTGGTGGAAATAGGCCTGACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAG... |
Task1_train_18696 | 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; Juvenile myelomonocytic leukemia | GGGTGTGGTGGAAATAGGCCTGACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAG... | GGGTGTGGTGGAAATAGGCCTGACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAG... |
Task1_train_18697 | A variant was discovered on Chromosome 12, affecting PTPN11 (protein tyrosine phosphatase non-receptor type 11). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; LEOPARD syndrome 1 | GGGTGTGGTGGAAATAGGCCTGACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAG... | GGGTGTGGTGGAAATAGGCCTGACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAG... |
Task1_train_18698 | 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 1 | GGGTGTGGTGGAAATAGGCCTGACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAG... | GGGTGTGGTGGAAATAGGCCTGACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAG... |
Task1_train_18699 | 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; RASopathy | GGGTGTGGTGGAAATAGGCCTGACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAG... | GGGTGTGGTGGAAATAGGCCTGACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCTGACACTACGCCCGGCTAATTTTTGTATTTTAATAG... |
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